Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF AACS 0 genome.wustl.edu 37 12 125613986 125613986 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 125613986 125613986 C T SNP AACS ENST00000316519 human ensembl 74_37 +1 known missense c.1529 p.A510V 1.000 pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth - no_errors AACS HGNC ENSG00000081760 tier1 - - 212 0 0.00 115 41 26.28 AACS 0 genome.wustl.edu 37 12 125626670 125626670 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 125626670 125626670 C T SNP AACS ENST00000261686 human ensembl 74_37 +1 known missense c.1711 p.R571C 0.000 NULL pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth - no_errors AACS HGNC ENSG00000081760 tier1 rs148449574 - 63 0 0.00 51 26 33.77 AAK1 0 genome.wustl.edu 37 2 69704020 69704020 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 69704020 69704020 T - DEL AAK1 ENST00000409085 human ensembl 74_37 -1 known frame_shift_del c.2783 p.N928fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors AAK1 HGNC ENSG00000115977 tier1 45 0 0.00 26 14 35.00 AASDH 0 genome.wustl.edu 37 4 57209044 57209044 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 57209044 57209044 C T SNP AASDH ENST00000205214 human ensembl 74_37 -1 known missense c.2864 p.C955Y 0.999 superfamily_Quinonprotein_ADH-like_supfam pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like - no_errors AASDH HGNC ENSG00000157426 tier1 - - 21 0 0.00 16 14 46.67 ABCA12 0 genome.wustl.edu 37 2 215855716 215855716 + Missense_Mutation SNP A A T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 215855716 215855716 A T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.3334 p.F1112I 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 tier1 - - 15 0 0.00 7 9 56.25 ABCA12 0 genome.wustl.edu 37 2 215940284 215940285 + Frame_Shift_Del DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 215940284 215940285 AA - DEL ABCA12 ENST00000412081 human ensembl 74_37 -1 novel frame_shift_del c.220_219 p.S74fs 0.082:0.069 NULL NULL - no_errors ABCA12 HGNC ENSG00000144452 tier1 32 0 0.00 19 9 32.14 ABCA13 0 genome.wustl.edu 37 7 48312959 48312959 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 48312959 48312959 G A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known silent c.3696 p.R1232 0.030 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 - - 24 0 0.00 13 10 43.48 ABCA2 0 genome.wustl.edu 37 9 139908434 139908434 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 139908434 139908434 C T SNP ABCA2 ENST00000265662 human ensembl 74_37 -1 known missense c.4297 p.G1433R 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 tier1 - - 11 0 0.00 2 6 75.00 ABCA2 0 genome.wustl.edu 37 9 139909958 139909958 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 139909958 139909958 C T SNP ABCA2 ENST00000265662 human ensembl 74_37 -1 known missense c.3605 p.C1202Y 1.000 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 tier1 - - 129 0 0.00 53 36 40.45 ABCA5 0 genome.wustl.edu 37 17 67260954 67260954 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 67260954 67260954 G A SNP ABCA5 ENST00000392677 human ensembl 74_37 -1 known silent c.3240 p.I1080 0.054 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 tier1 - - 27 0 0.00 28 15 34.88 ABCA6 0 genome.wustl.edu 37 17 67125767 67125767 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 67125767 67125767 A - DEL ABCA6 ENST00000284425 human ensembl 74_37 -1 known frame_shift_del c.917 p.L306fs 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 tier1 30 0 0.00 17 13 43.33 ABCA8 0 genome.wustl.edu 37 17 66872639 66872639 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 66872639 66872639 C T SNP ABCA8 ENST00000430352 human ensembl 74_37 -1 known silent c.4332 p.P1444 0.055 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 tier1 rs143428358 - 63 0 0.00 41 4 8.89 ABCB10 0 genome.wustl.edu 37 1 229654633 229654633 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 229654633 229654633 A - DEL ABCB10 ENST00000498158 human ensembl 74_37 -1 known rna NULL NULL 0.079 - - - no_errors ABCB10 HGNC ENSG00000135776 tier1 34 0 0.00 44 13 22.81 ABCB6 0 genome.wustl.edu 37 2 220081123 220081123 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 220081123 220081123 G T SNP ABCB6 ENST00000265316 human ensembl 74_37 -1 known missense c.933 p.F311L 0.996 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB6 HGNC ENSG00000115657 tier1 - - 59 0 0.00 58 4 6.45 ABCC10 0 genome.wustl.edu 37 6 43395732 43395732 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 43395732 43395732 G T SNP ABCC10 ENST00000372530 human ensembl 74_37 +1 known missense c.16 p.A6S 0.996 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC10 HGNC ENSG00000124574 tier1 - - 87 0 0.00 50 4 7.41 ABCC11 0 genome.wustl.edu 37 16 48264408 48264408 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 48264408 48264408 G T SNP ABCC11 ENST00000356608 human ensembl 74_37 -1 known missense c.176 p.P59Q 0.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC11 HGNC ENSG00000121270 tier1 - - 45 0 0.00 56 4 6.67 ABCC13 0 genome.wustl.edu 37 21 15663705 15663707 + RNA DEL AAA AAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 15663705 15663707 AAA - DEL ABCC13 ENST00000471902 human ensembl 74_37 +1 putative rna NULL NULL 0.001:0.000:0.000 - - - no_errors ABCC13 HGNC ENSG00000243064 tier1 35 0 0.00 35 7 16.67 ABCC13 0 genome.wustl.edu 37 21 15663705 15663708 + RNA DEL AAAA AAAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 15663705 15663708 AAAA - DEL ABCC13 ENST00000471902 human ensembl 74_37 +1 putative rna NULL NULL 0.001:0.000:0.000:0.000 - - - no_errors ABCC13 HGNC ENSG00000243064 tier1 35 0 0.00 37 5 11.90 ABCC8 0 genome.wustl.edu 37 11 17414565 17414565 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 17414565 17414565 G A SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known silent c.4722 p.F1574 0.980 pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 tier1 - - 65 0 0.00 30 16 34.78 ABCE1 0 genome.wustl.edu 37 4 146033434 146033434 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 146033434 146033434 C T SNP ABCE1 ENST00000296577 human ensembl 74_37 +1 known missense c.754 p.R252C 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,pfam_RNaseL-inhib_metal-bd_dom,pfam_4Fe4S-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E - no_errors ABCE1 HGNC ENSG00000164163 tier1 - - 70 0 0.00 60 29 32.58 ABCG1 0 genome.wustl.edu 37 21 43691299 43691299 + Splice_Site SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 43691299 43691299 T C SNP ABCG1 ENST00000398437 human ensembl 74_37 +1 known splice_site c.842+2 e4+2 1.000 - - - no_errors ABCG1 HGNC ENSG00000160179 tier1 - - 40 0 0.00 24 20 45.45 ABHD10 0 genome.wustl.edu 37 3 111705797 111705797 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 111705797 111705797 C T SNP ABHD10 ENST00000273359 human ensembl 74_37 +1 known missense c.475 p.L159F 1.000 pfam_AB_hydrolase_1,pfam_Peptidase_S9 pfam_AB_hydrolase_1,pfam_Peptidase_S9 - no_errors ABHD10 HGNC ENSG00000144827 tier1 - - 53 0 0.00 30 18 37.50 ABHD17B 0 genome.wustl.edu 37 9 74481778 74481778 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 74481778 74481778 G T SNP ABHD17B ENST00000377041 human ensembl 74_37 -1 known missense c.792 p.H264Q 1.000 pfam_Peptidase_S9,pfam_Dienelactn_hydro pfam_Peptidase_S9,pfam_Dienelactn_hydro - no_errors ABHD17B HGNC ENSG00000107362 tier1 - - 62 0 0.00 54 5 8.47 ABLIM1 0 genome.wustl.edu 37 10 116205099 116205099 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 116205099 116205099 C T SNP ABLIM1 ENST00000277895 human ensembl 74_37 -1 known missense c.1799 p.R600Q 1.000 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM1 HGNC ENSG00000099204 tier1 rs148624929 - 95 0 0.00 36 24 40.00 ABLIM3 0 genome.wustl.edu 37 5 148630032 148630032 + Silent SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 148630032 148630032 C A SNP ABLIM3 ENST00000309868 human ensembl 74_37 +1 known silent c.1752 p.A584 1.000 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM3 HGNC ENSG00000173210 tier1 - - 104 0 0.00 47 35 42.68 ABR 0 genome.wustl.edu 37 17 916344 916344 + Splice_Site DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 916344 916344 C - DEL ABR ENST00000302538 human ensembl 74_37 -1 known splice_site_del c.1851+1 e17+1 1.000 - - - no_errors ABR HGNC ENSG00000159842 tier1 99 0 0.00 48 24 33.33 ACACA 0 genome.wustl.edu 37 17 35557399 35557399 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 35557399 35557399 G T SNP ACACA ENST00000353139 human ensembl 74_37 -1 known silent c.4084 p.R1362 0.985 pfam_AcCoA_COase_cen pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 13 0 0.00 30 3 9.09 ACLY 0 genome.wustl.edu 37 17 40066524 40066524 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 40066524 40066524 G T SNP ACLY ENST00000352035 human ensembl 74_37 -1 known missense c.296 p.T99K 0.833 pfam_ATP-grasp_succ-CoA_synth-type,pirsf_ATP-citrate_synthase pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase - no_errors ACLY HGNC ENSG00000131473 tier1 - - 53 0 0.00 39 5 11.36 ACSL5 0 genome.wustl.edu 37 10 114181709 114181709 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 114181709 114181709 C T SNP ACSL5 ENST00000356116 human ensembl 74_37 +1 known silent c.1560 p.H520 0.893 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL5 HGNC ENSG00000197142 tier1 - - 51 0 0.00 28 14 33.33 ACTB 0 genome.wustl.edu 37 7 5567138 5567138 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 5567138 5567138 A - DEL ACTB ENST00000464611 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ACTB HGNC ENSG00000075624 tier1 56 0 0.00 38 21 35.59 ACTR6 0 genome.wustl.edu 37 12 100598718 100598718 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 100598718 100598718 G A SNP ACTR6 ENST00000188312 human ensembl 74_37 +1 known silent c.69 p.S23 0.998 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR6 HGNC ENSG00000075089 tier1 - - 77 0 0.00 43 26 37.68 ACVR1B 0 genome.wustl.edu 37 12 52374794 52374794 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 52374794 52374794 G A SNP ACVR1B ENST00000257963 human ensembl 74_37 +1 known missense c.622 p.V208I 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ACVR1B HGNC ENSG00000135503 tier1 - - 71 0 0.00 38 19 33.33 ACVR1C 0 genome.wustl.edu 37 2 158412733 158412733 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 158412733 158412733 C T SNP ACVR1C ENST00000243349 human ensembl 74_37 -1 known missense c.416 p.R139Q 0.901 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ACVR1C HGNC ENSG00000123612 tier1 rs201171210 - 52 0 0.00 34 32 48.48 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 148683686 148683686 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1303 p.K437fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 tier1 79 0 0.00 30 59 66.29 ACY1 0 genome.wustl.edu 37 3 52021444 52021444 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 52021444 52021444 G - DEL ACY1 ENST00000458031 human ensembl 74_37 +1 known frame_shift_del c.1097 p.R366fs 0.999 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,tigrfam_N-acyl_aa_amidohydrolase pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,tigrfam_N-acyl_aa_amidohydrolase - no_errors ACY1 HGNC ENSG00000243989 tier1 47 0 0.00 14 15 51.72 ADAD1 0 genome.wustl.edu 37 4 123333870 123333870 + Silent SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 123333870 123333870 A G SNP ADAD1 ENST00000296513 human ensembl 74_37 +1 known silent c.1155 p.S385 0.965 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADAD1 HGNC ENSG00000164113 tier1 - - 45 0 0.00 30 23 43.40 ADAD1 0 genome.wustl.edu 37 4 123342478 123342478 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 123342478 123342478 G A SNP ADAD1 ENST00000296513 human ensembl 74_37 +1 known missense c.1550 p.R517Q 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADAD1 HGNC ENSG00000164113 tier1 - - 49 0 0.00 30 11 26.83 ADAM15 0 genome.wustl.edu 37 1 155032745 155032745 + Silent SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 155032745 155032745 T C SNP ADAM15 ENST00000356955 human ensembl 74_37 +1 known silent c.2133 p.L711 1.000 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM15 HGNC ENSG00000143537 tier1 - - 36 0 0.00 27 13 32.50 ADAM22 0 genome.wustl.edu 37 7 87762205 87762205 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 87762205 87762205 G A SNP ADAM22 ENST00000265727 human ensembl 74_37 +1 known missense c.1016 p.R339Q 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 tier1 - - 171 0 0.00 88 49 35.77 ADAM23 0 genome.wustl.edu 37 2 207460861 207460861 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 207460861 207460861 C - DEL ADAM23 ENST00000264377 human ensembl 74_37 +1 known frame_shift_del c.2334 p.K781fs 0.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM23 HGNC ENSG00000114948 tier1 74 0 0.00 19 40 67.80 ADAM32 0 genome.wustl.edu 37 8 39068767 39068767 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 39068767 39068767 A - DEL ADAM32 ENST00000379907 human ensembl 74_37 +1 known frame_shift_del c.1157 p.K388fs 0.517 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM32 HGNC ENSG00000197140 tier1 40 0 0.00 35 14 28.57 ADAM32 0 genome.wustl.edu 37 8 39114763 39114763 + Missense_Mutation SNP T T A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 39114763 39114763 T A SNP ADAM32 ENST00000379907 human ensembl 74_37 +1 known missense c.2063 p.L688H 0.001 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM32 HGNC ENSG00000197140 tier1 - - 28 0 0.00 34 15 30.61 ADAM7 0 genome.wustl.edu 37 8 24342860 24342860 + Missense_Mutation SNP A A T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 24342860 24342860 A T SNP ADAM7 ENST00000175238 human ensembl 74_37 +1 known missense c.946 p.T316S 0.992 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM7 HGNC ENSG00000069206 tier1 - - 58 0 0.00 57 23 28.75 ADAM7 0 genome.wustl.edu 37 8 24359015 24359015 + Nonsense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 24359015 24359015 G T SNP ADAM7 ENST00000175238 human ensembl 74_37 +1 known nonsense c.2134 p.E712* 0.995 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM7 HGNC ENSG00000069206 tier1 - - 78 0 0.00 117 8 6.40 ADAMDEC1 0 genome.wustl.edu 37 8 24257805 24257805 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 24257805 24257805 G T SNP ADAMDEC1 ENST00000256412 human ensembl 74_37 +1 known missense c.1134 p.Q378H 0.145 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAMDEC1 HGNC ENSG00000134028 tier1 - - 53 0 0.00 89 5 5.32 ADAMTS16 0 genome.wustl.edu 37 5 5140806 5140806 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 5140806 5140806 G A SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known silent c.102 p.A34 0.208 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 tier1 - - 43 0 0.00 61 10 14.08 ADAMTS7 0 genome.wustl.edu 37 15 79058838 79058838 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 79058838 79058838 G T SNP ADAMTS7 ENST00000388820 human ensembl 74_37 -1 known missense c.3415 p.R1139S 0.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 tier1 - - 50 0 0.00 19 11 36.67 ADAMTS8 0 genome.wustl.edu 37 11 130281317 130281317 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 130281317 130281317 G - DEL ADAMTS8 ENST00000257359 human ensembl 74_37 -1 known frame_shift_del c.1745 p.P582fs 0.014 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS8,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS8 HGNC ENSG00000134917 tier1 63 0 0.00 26 12 31.58 ADAMTS9 0 genome.wustl.edu 37 3 64672616 64672616 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 64672616 64672616 G A SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known silent c.144 p.Y48 1.000 pfam_Peptidase_M12B_N pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 tier1 - - 74 0 0.00 43 18 29.51 ADAMTSL1 0 genome.wustl.edu 37 9 18680349 18680350 + Frame_Shift_Ins INS - - G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 18680349 18680350 - G INS ADAMTSL1 ENST00000327883 human ensembl 74_37 +1 known frame_shift_ins c.1176_1177 p.I395fs 1.000:1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL1 HGNC ENSG00000178031 tier1 45 0 0.00 24 15 38.46 ADAMTSL1 0 genome.wustl.edu 37 9 18776908 18776908 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 18776908 18776908 C T SNP ADAMTSL1 ENST00000380548 human ensembl 74_37 +1 novel missense c.2681 p.A894V 0.137 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors ADAMTSL1 HGNC ENSG00000178031 tier1 - - 55 0 0.00 32 24 42.86 ADAMTSL4 0 genome.wustl.edu 37 1 150524368 150524369 + RNA DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 150524368 150524369 AA - DEL ADAMTSL4 ENST00000483335 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors ADAMTSL4 HGNC ENSG00000143382 tier1 14 0 0.00 20 5 20.00 ADAMTSL4 0 genome.wustl.edu 37 1 150530505 150530506 + Frame_Shift_Ins INS - - G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 150530505 150530506 - G INS ADAMTSL4 ENST00000369039 human ensembl 74_37 +1 known frame_shift_ins c.2331_2332 p.G780fs 1.000:1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ENSG00000143382 tier1 81 0 0.00 75 13 14.77 ADARB2-AS1 0 genome.wustl.edu 37 10 1569024 1569024 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 1569024 1569024 G A SNP ADARB2-AS1 ENST00000381301 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ADARB2-AS1 HGNC ENSG00000205696 tier1 - - 32 0 0.00 26 16 38.10 ADARB2-AS1 0 genome.wustl.edu 37 10 1577031 1577031 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 1577031 1577031 G A SNP ADARB2-AS1 ENST00000381301 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors ADARB2-AS1 HGNC ENSG00000205696 tier1 - - 32 0 0.00 36 14 28.00 ADCK3 0 genome.wustl.edu 37 1 227171736 227171736 + RNA DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 227171736 227171736 G - DEL ADCK3 ENST00000478406 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ADCK3 HGNC ENSG00000163050 tier1 42 0 0.00 41 11 21.15 ADCY2 0 genome.wustl.edu 37 5 7695879 7695879 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 7695879 7695879 A G SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known missense c.884 p.D295G 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 tier1 - - 32 0 0.00 50 17 25.37 ADCY5 0 genome.wustl.edu 37 3 123010123 123010123 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 123010123 123010123 C T SNP ADCY5 ENST00000462833 human ensembl 74_37 -1 known missense c.3164 p.R1055H 1.000 smart_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ENSG00000173175 tier1 - - 67 0 0.00 41 18 30.51 ADCY6 0 genome.wustl.edu 37 12 49168286 49168286 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 49168286 49168286 G A SNP ADCY6 ENST00000307885 human ensembl 74_37 -1 known silent c.2182 p.L728 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY6 HGNC ENSG00000174233 30 0 0.00 35 2 5.41 ADCY9 0 genome.wustl.edu 37 16 4016810 4016810 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 4016810 4016810 C T SNP ADCY9 ENST00000294016 human ensembl 74_37 -1 known missense c.3028 p.G1010R 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 tier1 - - 46 0 0.00 18 18 50.00 ADCY9 0 genome.wustl.edu 37 16 4039070 4039070 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 4039070 4039070 C T SNP ADCY9 ENST00000294016 human ensembl 74_37 -1 known silent c.2235 p.P745 0.443 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 tier1 - - 45 0 0.00 16 18 52.94 ADH7 0 genome.wustl.edu 37 4 100334325 100334325 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 100334325 100334325 G T SNP ADH7 ENST00000209665 human ensembl 74_37 -1 known silent c.1141 p.R381 0.078 superfamily_GroES-like pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like - no_errors ADH7 HGNC ENSG00000196344 55 0 0.00 44 3 6.38 ADM 0 genome.wustl.edu 37 11 10328153 10328154 + Frame_Shift_Ins INS - - C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 10328153 10328154 - C INS ADM ENST00000278175 human ensembl 74_37 +1 known frame_shift_ins c.523_524 p.S178fs 0.000:0.000 prints_Adrenomedullin pfam_Procalcitonin/adrenomedullin,prints_Adrenomedullin - no_errors ADM HGNC ENSG00000148926 tier1 44 0 0.00 32 6 15.79 ADORA3 0 genome.wustl.edu 37 1 112045780 112045780 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 112045780 112045780 A G SNP ADORA3 ENST00000369716 human ensembl 74_37 -1 known missense c.197 p.M66T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A3_rcpt,prints_GPCR_Rhodpsn - no_errors ADORA3 HGNC ENSG00000121933 tier1 - - 72 0 0.00 40 20 33.33 ADRB1 0 genome.wustl.edu 37 10 115804315 115804315 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 115804315 115804315 G A SNP ADRB1 ENST00000369295 human ensembl 74_37 +1 known missense c.424 p.V142M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_ADRB1_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_5HT6_rcpt - no_errors ADRB1 HGNC ENSG00000043591 tier1 - - 121 0 0.00 48 31 39.24 ADRBK1 0 genome.wustl.edu 37 11 67051342 67051342 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 67051342 67051342 C - DEL ADRBK1 ENST00000308595 human ensembl 74_37 +1 known frame_shift_del c.1413 p.P473fs 1.000 superfamily_Kinase-like_dom,smart_AGC-kinase_C,prints_GPCR_kinase pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors ADRBK1 HGNC ENSG00000173020 tier1 25 0 0.00 15 7 31.82 ADTRP 0 genome.wustl.edu 37 6 11714640 11714642 + RNA DEL AAA AAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 11714640 11714642 AAA - DEL ADTRP ENST00000512139 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.001 - - - no_errors ADTRP HGNC ENSG00000111863 tier1 52 0 0.00 16 20 55.56 AFAP1 0 genome.wustl.edu 37 4 7870447 7870447 + Splice_Site SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 7870447 7870447 C A SNP AFAP1 ENST00000420658 human ensembl 74_37 -1 known splice_site c.128-1 e2-1 1.000 - - - no_errors AFAP1 HGNC ENSG00000196526 tier1 - - 23 0 0.00 12 9 42.86 AFMID 0 genome.wustl.edu 37 17 76200772 76200772 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 76200772 76200772 C T SNP AFMID ENST00000327898 human ensembl 74_37 +1 known missense c.344 p.T115M 0.988 pfam_AB_hydrolase_3 pfam_AB_hydrolase_3 - no_errors AFMID HGNC ENSG00000183077 tier1 - - 98 0 0.00 49 24 32.43 AGAP3 0 genome.wustl.edu 37 7 150840884 150840884 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 150840884 150840884 C T SNP AGAP3 ENST00000397238 human ensembl 74_37 +1 known missense c.2590 p.R864W 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP3 HGNC ENSG00000133612 tier1 - - 61 0 0.00 59 4 6.35 AGBL1 0 genome.wustl.edu 37 15 86810253 86810253 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 86810253 86810253 G A SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known missense c.1646 p.R549Q 0.253 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 tier1 - - 41 0 0.00 26 12 31.58 AGBL4 0 genome.wustl.edu 37 1 49119009 49119009 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 49119009 49119009 C A SNP AGBL4 ENST00000371839 human ensembl 74_37 -1 known missense c.839 p.R280M 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,smart_Peptidase_M14 - no_errors AGBL4 HGNC ENSG00000186094 tier1 - - 77 0 0.00 58 24 29.27 AGL 0 genome.wustl.edu 37 1 100380976 100380976 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 100380976 100380976 G T SNP AGL ENST00000294724 human ensembl 74_37 +1 known missense c.4193 p.W1398L 1.000 pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,tigrfam_Glycogen_debranch_met pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met - no_errors AGL HGNC ENSG00000162688 tier1 - - 38 0 0.00 29 4 12.12 AGO4 0 genome.wustl.edu 37 1 36316704 36316704 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 36316704 36316704 A - DEL AGO4 ENST00000488778 human ensembl 74_37 +1 known rna NULL NULL 0.117 - - - no_errors AGO4 HGNC ENSG00000134698 tier1 16 0 0.00 23 7 23.33 AGPAT9 0 genome.wustl.edu 37 4 84519291 84519291 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 84519291 84519291 A G SNP AGPAT9 ENST00000264409 human ensembl 74_37 +1 known missense c.1084 p.I362V 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT9 HGNC ENSG00000138678 tier1 - - 80 0 0.00 40 43 51.81 AHCTF1 0 genome.wustl.edu 37 1 247003631 247003631 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 247003631 247003631 A - DEL AHCTF1 ENST00000470300 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AHCTF1 HGNC ENSG00000153207 tier1 32 0 0.00 47 11 18.97 AIM1L 0 genome.wustl.edu 37 1 26648510 26648510 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 26648510 26648510 C A SNP AIM1L ENST00000527815 human ensembl 74_37 -1 known missense c.2313 p.W771C 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1L HGNC ENSG00000176092 tier1 - - 61 0 0.00 36 27 42.86 AK9 0 genome.wustl.edu 37 6 109814612 109814612 + Missense_Mutation SNP G G C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 109814612 109814612 G C SNP AK9 ENST00000424296 human ensembl 74_37 -1 known missense c.5696 p.T1899S 0.985 NULL pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors AK9 HGNC ENSG00000155085 tier1 - - 74 0 0.00 50 38 43.18 AKAP9 0 genome.wustl.edu 37 7 91603085 91603085 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 91603085 91603085 A - DEL AKAP9 ENST00000359028 human ensembl 74_37 +1 known frame_shift_del c.145 p.K51fs 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 tier1 24 0 0.00 22 5 18.52 AKAP9 0 genome.wustl.edu 37 7 91695843 91695843 + Nonsense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 91695843 91695843 G T SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known nonsense c.6349 p.E2117* 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 tier1 - - 21 0 0.00 19 4 17.39 AKNA 0 genome.wustl.edu 37 9 117129899 117129899 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 117129899 117129899 C T SNP AKNA ENST00000307564 human ensembl 74_37 -1 known missense c.1652 p.R551Q 0.000 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 tier1 - - 29 0 0.00 14 9 39.13 AKR1B15 0 genome.wustl.edu 37 7 134261164 134261165 + Frame_Shift_Ins INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 134261164 134261165 - A INS AKR1B15 ENST00000423958 human ensembl 74_37 +1 known frame_shift_ins c.723_724 p.T243fs 1.000:1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1B15 HGNC ENSG00000227471 tier1 72 0 0.00 36 29 44.62 AKR1E2 0 genome.wustl.edu 37 10 4872921 4872921 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 4872921 4872921 C T SNP AKR1E2 ENST00000298375 human ensembl 74_37 +1 known missense c.94 p.R32W 0.966 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1E2 HGNC ENSG00000165568 tier1 - - 90 0 0.00 71 40 36.04 ALDH1A3 0 genome.wustl.edu 37 15 101438350 101438350 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 101438350 101438350 G - DEL ALDH1A3 ENST00000329841 human ensembl 74_37 +1 known frame_shift_del c.843 p.K284fs 0.008 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A3 HGNC ENSG00000184254 tier1 56 0 0.00 46 21 31.34 ALDH1L1 0 genome.wustl.edu 37 3 125831672 125831672 + Nonsense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 125831672 125831672 G A SNP ALDH1L1 ENST00000393434 human ensembl 74_37 -1 known nonsense c.2134 p.R712* 0.985 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L1 HGNC ENSG00000144908 tier1 - - 30 0 0.00 13 14 51.85 ALDH1L2 0 genome.wustl.edu 37 12 105464438 105464438 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 105464438 105464438 G A SNP ALDH1L2 ENST00000258494 human ensembl 74_37 -1 known missense c.338 p.P113L 1.000 pfam_Formyl_transf_N,superfamily_Formyl_transf_N,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L2 HGNC ENSG00000136010 tier1 - - 60 0 0.00 38 25 39.68 ALDH4A1 0 genome.wustl.edu 37 1 19199403 19199403 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 19199403 19199403 G A SNP ALDH4A1 ENST00000290597 human ensembl 74_37 -1 known missense c.1628 p.S543L 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH - no_errors ALDH4A1 HGNC ENSG00000159423 tier1 rs149468487 - 28 0 0.00 12 7 36.84 ALDOA 0 genome.wustl.edu 37 16 30078291 30078291 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 30078291 30078291 C - DEL ALDOA ENST00000395248 human ensembl 74_37 +1 novel frame_shift_del c.73 p.P26fs 0.001 NULL pfam_Aldolase_I - no_errors ALDOA HGNC ENSG00000149925 tier1 43 0 0.00 29 10 25.64 ALG1 0 genome.wustl.edu 37 16 5128869 5128869 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 5128869 5128869 G A SNP ALG1 ENST00000262374 human ensembl 74_37 +1 known silent c.852 p.T284 0.786 pfam_Glyco_trans_1 pfam_Glyco_trans_1 - no_errors ALG1 HGNC ENSG00000033011 tier1 - - 100 0 0.00 56 34 37.78 ALG1 0 genome.wustl.edu 37 16 5129771 5129771 + Silent SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 5129771 5129771 T C SNP ALG1 ENST00000262374 human ensembl 74_37 +1 known silent c.924 p.D308 0.000 pfam_Glyco_trans_1 pfam_Glyco_trans_1 - no_errors ALG1 HGNC ENSG00000033011 121 0 0.00 128 7 5.19 ALG13 0 genome.wustl.edu 37 X 110987996 110987996 + Silent SNP A A T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 110987996 110987996 A T SNP ALG13 ENST00000394780 human ensembl 74_37 +1 putative silent c.2796 p.P932 0.007 NULL pfam_Glyco_trans_28_C,pfam_OTU,pfscan_OTU,pfscan_Tudor - no_errors ALG13 HGNC ENSG00000101901 tier1 - - 9 0 0.00 3 4 57.14 ALG6 0 genome.wustl.edu 37 1 63836654 63836654 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 63836654 63836654 G T SNP ALG6 ENST00000371108 human ensembl 74_37 +1 known missense c.6 p.E2D 0.514 NULL pfam_Glyco_trans_ALG6/ALG8 - no_errors ALG6 HGNC ENSG00000088035 tier1 - - 131 0 0.00 72 49 40.50 ALMS1 0 genome.wustl.edu 37 2 73613032 73613034 + In_Frame_Del DEL GGA GGA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 73613032 73613034 GGA - DEL ALMS1 ENST00000264448 human ensembl 74_37 +1 known in_frame_del c.36_38 p.E16in_frame_del 0.989:0.996:1.000 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 tier1 25 0 0.00 33 7 17.50 ALMS1 0 genome.wustl.edu 37 2 73676528 73676528 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 73676528 73676528 C T SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known silent c.2871 p.S957 0.000 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 tier1 - - 13 0 0.00 12 13 52.00 ALOX12P2 0 genome.wustl.edu 37 17 6799719 6799719 + RNA SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 6799719 6799719 G T SNP ALOX12P2 ENST00000570890 human ensembl 74_37 +1 known rna NULL NULL 0.992 - - - no_errors ALOX12P2 HGNC ENSG00000262943 tier1 - - 104 0 0.00 95 5 5.00 ALPK2 0 genome.wustl.edu 37 18 56246390 56246390 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 56246390 56246390 G A SNP ALPK2 ENST00000361673 human ensembl 74_37 -1 known missense c.1618 p.P540S 0.058 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK2 HGNC ENSG00000198796 tier1 - - 33 0 0.00 15 9 37.50 ALPK2 0 genome.wustl.edu 37 18 56247704 56247704 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 56247704 56247704 C T SNP ALPK2 ENST00000361673 human ensembl 74_37 -1 known missense c.304 p.V102I 0.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK2 HGNC ENSG00000198796 tier1 - - 66 0 0.00 55 31 36.05 ALPK3 0 genome.wustl.edu 37 15 85382275 85382275 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 85382275 85382275 G T SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known missense c.975 p.L325F 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK3 HGNC ENSG00000136383 tier1 - - 88 0 0.00 64 5 7.25 ALS2CL 0 genome.wustl.edu 37 3 46722636 46722636 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 46722636 46722636 A G SNP ALS2CL ENST00000431015 human ensembl 74_37 -1 known missense c.1511 p.V504A 0.000 NULL pfam_MORN,superfamily_DH-domain,smart_MORN - no_errors ALS2CL HGNC ENSG00000178038 tier1 - - 79 0 0.00 62 6 8.82 ALS2CL 0 genome.wustl.edu 37 3 46729610 46729610 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 46729610 46729610 G T SNP ALS2CL ENST00000318962 human ensembl 74_37 -1 known missense c.280 p.R94S 0.110 superfamily_DH-domain pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9 - no_errors ALS2CL HGNC ENSG00000178038 47 0 0.00 32 2 5.88 ALS2CR12 0 genome.wustl.edu 37 2 202216070 202216070 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 202216070 202216070 G A SNP ALS2CR12 ENST00000286190 human ensembl 74_37 -1 known missense c.58 p.R20W 0.838 NULL superfamily_t-SNARE - no_errors ALS2CR12 HGNC ENSG00000155749 tier1 - - 66 0 0.00 38 15 28.30 ALX4 0 genome.wustl.edu 37 11 44286624 44286624 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 44286624 44286624 G - DEL ALX4 ENST00000329255 human ensembl 74_37 -1 known frame_shift_del c.1016 p.P339fs 0.977 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors ALX4 HGNC ENSG00000052850 tier1 65 0 0.00 41 21 33.87 AMACR 0 genome.wustl.edu 37 5 33989302 33989302 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 33989302 33989302 G A SNP AMACR ENST00000335606 human ensembl 74_37 -1 known missense c.1045 p.H349Y 1.000 superfamily_CoA-Trfase_III_dom pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom - no_errors AMACR HGNC ENSG00000242110 tier1 - - 53 0 0.00 74 26 26.00 AMER3 0 genome.wustl.edu 37 2 131520251 131520251 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 131520251 131520251 C - DEL AMER3 ENST00000321420 human ensembl 74_37 +1 known frame_shift_del c.606 p.P204fs 0.000 NULL pfam_Uncharacterised_FAM123 - no_errors AMER3 HGNC ENSG00000178171 tier1 29 0 0.00 15 9 37.50 AMFR 0 genome.wustl.edu 37 16 56396935 56396935 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 56396935 56396935 C T SNP AMFR ENST00000290649 human ensembl 74_37 -1 known silent c.1818 p.A606 0.000 NULL pfam_CUE,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_CUE,pfscan_CUE,pfscan_Znf_RING - no_errors AMFR HGNC ENSG00000159461 59 0 0.00 45 3 6.25 AMHR2 0 genome.wustl.edu 37 12 53825226 53825226 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 53825226 53825226 C A SNP AMHR2 ENST00000257863 human ensembl 74_37 +1 known missense c.1691 p.P564H 0.000 pirsf_Anti-muellerian_hrmn_rcpt_II pirsf_Anti-muellerian_hrmn_rcpt_II,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors AMHR2 HGNC ENSG00000135409 tier1 - - 34 0 0.00 23 10 30.30 AMOTL1 0 genome.wustl.edu 37 11 94602625 94602625 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 94602625 94602625 C T SNP AMOTL1 ENST00000433060 human ensembl 74_37 +1 known silent c.2751 p.T917 0.000 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL1 HGNC ENSG00000166025 tier1 - - 30 0 0.00 9 17 65.38 ANAPC1 0 genome.wustl.edu 37 2 112614257 112614258 + Splice_Site INS - - T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 112614257 112614258 0 T INS ANAPC1 ENST00000341068 human ensembl 74_37 -1 known splice_site_ins c.1450-2_1450-1 e12-1 0.994:0.992 - - - no_errors ANAPC1 HGNC ENSG00000153107 111 0 0.00 153 11 6.71 ANAPC16 0 genome.wustl.edu 37 10 73993364 73993364 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 73993364 73993364 T - DEL ANAPC16 ENST00000470481 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ANAPC16 HGNC ENSG00000166295 tier1 40 0 0.00 16 24 60.00 ANK2 0 genome.wustl.edu 37 4 114280135 114280135 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 114280135 114280135 G - DEL ANK2 ENST00000357077 human ensembl 74_37 +1 known frame_shift_del c.10361 p.G3456fs 0.005 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 tier1 49 0 0.00 32 15 31.91 ANK2 0 genome.wustl.edu 37 4 114279580 114279580 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 114279580 114279580 G T SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.9806 p.R3269M 0.002 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 22 0 0.00 13 2 13.33 ANKFY1 0 genome.wustl.edu 37 17 4071196 4071196 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 4071196 4071196 G A SNP ANKFY1 ENST00000570535 human ensembl 74_37 -1 known silent c.3513 p.C1171 1.000 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ENSG00000185722 tier1 - - 25 0 0.00 24 8 25.00 ANKHD1 0 genome.wustl.edu 37 5 139781739 139781739 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 139781739 139781739 G A SNP ANKHD1 ENST00000297183 human ensembl 74_37 +1 known missense c.187 p.G63S 0.592 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 tier1 - - 16 0 0.00 12 6 33.33 ANKK1 0 genome.wustl.edu 37 11 113270316 113270316 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 113270316 113270316 C T SNP ANKK1 ENST00000303941 human ensembl 74_37 +1 known missense c.1625 p.A542V 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors ANKK1 HGNC ENSG00000170209 tier1 - - 47 0 0.00 26 10 27.78 ANKMY1 0 genome.wustl.edu 37 2 241459933 241459933 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 241459933 241459933 C T SNP ANKMY1 ENST00000272972 human ensembl 74_37 -1 known missense c.1583 p.R528Q 0.017 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND - no_errors ANKMY1 HGNC ENSG00000144504 tier1 - - 39 0 0.00 23 5 17.86 ANKMY1 0 genome.wustl.edu 37 2 241494373 241494373 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 241494373 241494373 C T SNP ANKMY1 ENST00000361678 human ensembl 74_37 -1 known silent c.246 p.V82 0.175 NULL pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND - no_errors ANKMY1 HGNC ENSG00000144504 tier1 - - 26 0 0.00 29 8 21.62 ANKMY2 0 genome.wustl.edu 37 7 16640464 16640464 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 16640464 16640464 C T SNP ANKMY2 ENST00000306999 human ensembl 74_37 -1 known silent c.1248 p.K416 0.006 NULL pfam_Ankyrin_rpt,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND - no_errors ANKMY2 HGNC ENSG00000106524 43 0 0.00 25 2 7.41 ANKRD11 0 genome.wustl.edu 37 16 89347410 89347410 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 89347410 89347410 G A SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.5540 p.S1847L 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 tier1 - - 40 0 0.00 23 10 30.30 ANKRD11 0 genome.wustl.edu 37 16 89349640 89349641 + Frame_Shift_Ins INS - - T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 89349640 89349641 - T INS ANKRD11 ENST00000301030 human ensembl 74_37 -1 known frame_shift_ins c.3310_3309 p.D1103fs 1.000:1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 tier1 42 0 0.00 28 7 20.00 ANKRD11 0 genome.wustl.edu 37 16 89357574 89357574 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 89357574 89357574 G A SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.244 p.R82W 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 tier1 - - 41 0 0.00 16 17 51.52 ANKRD20A19P 0 genome.wustl.edu 37 13 24515468 24515468 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 24515468 24515468 T - DEL ANKRD20A19P ENST00000420143 human ensembl 74_37 -1 known rna NULL NULL 0.055 - - - no_errors ANKRD20A19P HGNC ENSG00000196593 tier1 154 0 0.00 145 70 32.56 ANKRD20A4 0 genome.wustl.edu 37 9 69421905 69421905 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 69421905 69421905 A 0 DEL ANKRD20A4 ENST00000357336 human ensembl 74_37 +1 known frame_shift_del c.1369 p.N459fs 0.373 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A4 HGNC ENSG00000172014 64 0 0.00 55 8 12.70 ANKRD20A5P 0 genome.wustl.edu 37 18 14179418 14179418 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 14179418 14179418 C T SNP ANKRD20A5P ENST00000581181 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 tier1 - - 110 0 0.00 61 34 35.79 ANKRD20A8P 0 genome.wustl.edu 37 2 95483039 95483039 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 95483039 95483039 T 0 DEL ANKRD20A8P ENST00000432432 human ensembl 74_37 -1 known rna NULL NULL 0.232 - - - no_errors ANKRD20A8P HGNC ENSG00000229089 71 0 0.00 45 32 41.56 ANKRD26 0 genome.wustl.edu 37 10 27368033 27368033 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 27368033 27368033 G A SNP ANKRD26 ENST00000436985 human ensembl 74_37 -1 known silent c.945 p.L315 0.000 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 tier1 - - 40 0 0.00 36 26 41.94 ANKRD27 0 genome.wustl.edu 37 19 33130392 33130392 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 33130392 33130392 A G SNP ANKRD27 ENST00000306065 human ensembl 74_37 -1 known missense c.986 p.M329T 1.000 pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt - no_errors ANKRD27 HGNC ENSG00000105186 tier1 - - 63 0 0.00 37 6 13.95 ANKRD30A 0 genome.wustl.edu 37 10 37431116 37431116 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 37431116 37431116 G A SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.1123 p.V375M 0.014 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 24 0 0.00 4 2 33.33 ANKRD30BP2 0 genome.wustl.edu 37 21 14421333 14421333 + RNA SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 14421333 14421333 C A SNP ANKRD30BP2 ENST00000471407 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ANKRD30BP2 HGNC ENSG00000224309 tier1 - - 76 0 0.00 46 25 35.21 ANKRD35 0 genome.wustl.edu 37 1 145562534 145562534 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 145562534 145562534 G A SNP ANKRD35 ENST00000355594 human ensembl 74_37 +1 known missense c.2222 p.R741Q 0.052 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD35 HGNC ENSG00000198483 tier1 - - 60 0 0.00 27 24 47.06 ANKRD35 0 genome.wustl.edu 37 1 145562653 145562653 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 145562653 145562653 G T SNP ANKRD35 ENST00000355594 human ensembl 74_37 +1 known missense c.2341 p.A781S 0.988 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD35 HGNC ENSG00000198483 tier1 - - 80 0 0.00 33 24 42.11 ANKRD36 0 genome.wustl.edu 37 2 97899538 97899538 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 97899538 97899538 C T SNP ANKRD36 ENST00000420699 human ensembl 74_37 +1 known silent c.4101 p.D1367 0.094 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 tier1 - - 29 0 0.00 25 13 34.21 ANKRD36C 0 genome.wustl.edu 37 2 96592969 96592969 + Silent SNP A A C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 96592969 96592969 A C SNP ANKRD36C ENST00000456556 human ensembl 74_37 -1 known silent c.1932 p.S644 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC ENSG00000174501 tier1 - - 187 0 0.00 106 109 50.70 ANKRD42 0 genome.wustl.edu 37 11 82966931 82966932 + Frame_Shift_Del DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 82966931 82966932 AA - DEL ANKRD42 ENST00000260047 human ensembl 74_37 +1 putative frame_shift_del c.1509_1510 p.K506fs 0.991:1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD42 HGNC ENSG00000137494 tier1 54 0 0.00 33 21 38.89 ANKRD49 0 genome.wustl.edu 37 11 94230120 94230120 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 94230120 94230120 A - DEL ANKRD49 ENST00000534911 human ensembl 74_37 +1 known frame_shift_del c.261 p.K90fs 1.000 NULL NULL - no_errors ANKRD49 HGNC ENSG00000168876 tier1 17 0 0.00 14 11 44.00 ANKRD50 0 genome.wustl.edu 37 4 125593559 125593559 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 125593559 125593559 C T SNP ANKRD50 ENST00000504087 human ensembl 74_37 -1 known missense c.873 p.M291I 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC ENSG00000151458 tier1 - - 46 0 0.00 34 10 22.73 ANKS1A 0 genome.wustl.edu 37 6 35051266 35051266 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 35051266 35051266 G A SNP ANKS1A ENST00000360359 human ensembl 74_37 +1 known missense c.2980 p.D994N 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1A HGNC ENSG00000064999 tier1 rs201592159 - 40 0 0.00 13 14 51.85 ANO1 0 genome.wustl.edu 37 11 70009451 70009451 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 70009451 70009451 C T SNP ANO1 ENST00000316296 human ensembl 74_37 +1 known missense c.1781 p.T594I 0.000 NULL pfam_Anoctamin - no_errors ANO1 HGNC ENSG00000131620 tier1 - - 50 0 0.00 18 12 40.00 ANO2 0 genome.wustl.edu 37 12 5687598 5687598 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 5687598 5687598 G T SNP ANO2 ENST00000356134 human ensembl 74_37 -1 known silent c.2323 p.R775 0.981 pfam_Anoctamin pfam_Anoctamin - no_errors ANO2 HGNC ENSG00000047617 tier1 - - 49 0 0.00 39 63 61.76 ANO9 0 genome.wustl.edu 37 11 428562 428562 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 428562 428562 G A SNP ANO9 ENST00000332826 human ensembl 74_37 -1 known silent c.1098 p.A366 0.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO9 HGNC ENSG00000185101 tier1 - - 57 0 0.00 29 13 30.95 ANP32A 0 genome.wustl.edu 37 15 69072248 69072248 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 69072248 69072248 G A SNP ANP32A ENST00000267918 human ensembl 74_37 -1 known rna NULL NULL 0.981 - - - no_errors ANP32A HGNC ENSG00000140350 tier1 - - 10 0 0.00 3 5 62.50 ANP32BP1 0 genome.wustl.edu 37 15 75614855 75614855 + RNA SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 75614855 75614855 C A SNP ANP32BP1 ENST00000564205 human ensembl 74_37 -1 known rna NULL NULL 0.670 - - - no_errors ANP32BP1 HGNC ENSG00000259790 tier1 - - 101 0 0.00 58 39 40.21 ANXA9 0 genome.wustl.edu 37 1 150955885 150955885 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 150955885 150955885 G T SNP ANXA9 ENST00000368947 human ensembl 74_37 +1 known missense c.147 p.R49S 1.000 pfam_Annexin_repeat,prints_AnnexinXXXI pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXXXI - no_errors ANXA9 HGNC ENSG00000143412 tier1 - - 41 0 0.00 69 4 5.48 AOC2 0 genome.wustl.edu 37 17 40996995 40996995 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 40996995 40996995 C T SNP AOC2 ENST00000253799 human ensembl 74_37 +1 known missense c.352 p.R118W 0.999 pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC2 HGNC ENSG00000131480 tier1 rs200726584 - 80 0 0.00 27 17 38.64 AP1M1 0 genome.wustl.edu 37 19 16314384 16314384 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 16314384 16314384 G - DEL AP1M1 ENST00000444449 human ensembl 74_37 +1 known frame_shift_del c.157 p.V55fs 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP1M1 HGNC ENSG00000072958 tier1 79 0 0.00 63 24 27.59 AP3B1 0 genome.wustl.edu 37 5 77334907 77334907 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 77334907 77334907 T - DEL AP3B1 ENST00000255194 human ensembl 74_37 -1 known frame_shift_del c.2769 p.K923fs 0.419 pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 tier1 69 0 0.00 58 25 30.12 AP4B1 0 genome.wustl.edu 37 1 114438761 114438761 + RNA SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 114438761 114438761 A G SNP AP4B1 ENST00000479285 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AP4B1 HGNC ENSG00000134262 tier1 - - 17 0 0.00 14 14 50.00 APAF1 0 genome.wustl.edu 37 12 99109237 99109237 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 99109237 99109237 G A SNP APAF1 ENST00000551964 human ensembl 74_37 +1 known silent c.2991 p.Q997 0.011 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep - no_errors APAF1 HGNC ENSG00000120868 tier1 - - 61 0 0.00 37 16 30.19 APAF1 0 genome.wustl.edu 37 12 99128498 99128498 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 99128498 99128498 G A SNP APAF1 ENST00000547666 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors APAF1 HGNC ENSG00000120868 tier1 - - 108 0 0.00 77 36 31.58 APBB1 0 genome.wustl.edu 37 11 6422905 6422905 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 6422905 6422905 C T SNP APBB1 ENST00000389906 human ensembl 74_37 -1 known missense c.1402 p.V468I 1.000 pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_WW_dom,pfam_PTB,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB1 HGNC ENSG00000166313 tier1 - - 70 0 0.00 32 26 44.83 APC 0 genome.wustl.edu 37 5 112043282 112043283 + RNA INS - - G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 112043282 112043283 - G INS APC ENST00000505350 human ensembl 74_37 +1 putative rna NULL NULL 0.028:0.026 - - - no_errors APC HGNC ENSG00000134982 tier1 19 0 0.00 11 6 35.29 APC 0 genome.wustl.edu 37 5 112154722 112154722 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 112154722 112154722 G A SNP APC ENST00000257430 human ensembl 74_37 +1 known silent c.993 p.S331 0.109 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 tier1 rs148343173 - 60 0 0.00 37 20 35.09 APLNR 0 genome.wustl.edu 37 11 57003870 57003870 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 57003870 57003870 G T SNP APLNR ENST00000257254 human ensembl 74_37 -1 known silent c.609 p.V203 0.871 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors APLNR HGNC ENSG00000134817 tier1 - - 55 0 0.00 25 4 13.79 APOBEC3D 0 genome.wustl.edu 37 22 39421260 39421260 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 39421260 39421260 C T SNP APOBEC3D ENST00000216099 human ensembl 74_37 +1 known silent c.396 p.A132 0.032 pfam_APOBEC_N,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3D HGNC ENSG00000243811 tier1 - - 66 0 0.00 39 29 42.03 APOBR 0 genome.wustl.edu 37 16 28507636 28507636 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 28507636 28507636 C T SNP APOBR ENST00000564831 human ensembl 74_37 +1 known missense c.1274 p.P425L 0.000 NULL NULL - no_errors APOBR HGNC ENSG00000184730 tier1 - - 29 0 0.00 20 15 42.86 APOC1 0 genome.wustl.edu 37 19 45419665 45419666 + Frame_Shift_Ins INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 45419665 45419666 - A INS APOC1 ENST00000592885 human ensembl 74_37 +1 novel frame_shift_ins c.277_278 p.T96fs 0.009:0.005 NULL pfam_ApoC-I - no_errors APOC1 HGNC ENSG00000130208 tier1 24 0 0.00 19 8 29.63 APPL1 0 genome.wustl.edu 37 3 57276921 57276921 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 57276921 57276921 A - DEL APPL1 ENST00000288266 human ensembl 74_37 +1 known frame_shift_del c.453 p.R154fs 0.881 NULL pfam_PTB/PI_dom,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom - no_errors APPL1 HGNC ENSG00000157500 tier1 134 0 0.00 103 51 33.12 APPL2 0 genome.wustl.edu 37 12 105589058 105589059 + Frame_Shift_Ins INS - - T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 105589058 105589059 - T INS APPL2 ENST00000551662 human ensembl 74_37 -1 known frame_shift_ins c.1240_1239 p.Q413fs 0.817:0.836 NULL pfam_PTB/PI_dom,pfam_Pleckstrin_homology,pfam_PTB,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom - no_errors APPL2 HGNC ENSG00000136044 tier1 120 0 0.00 109 44 28.76 APPL2 0 genome.wustl.edu 37 12 105600899 105600899 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 105600899 105600899 C T SNP APPL2 ENST00000551662 human ensembl 74_37 -1 known silent c.579 p.A193 0.048 NULL pfam_PTB/PI_dom,pfam_Pleckstrin_homology,pfam_PTB,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom - no_errors APPL2 HGNC ENSG00000136044 tier1 - - 52 0 0.00 26 7 21.21 APRT 0 genome.wustl.edu 37 16 88876196 88876196 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 88876196 88876196 C T SNP APRT ENST00000378364 human ensembl 74_37 -1 known silent c.453 p.L151 1.000 pfam_PRibTrfase_dom,tigrfam_Ade_phspho_trans pfam_PRibTrfase_dom,tigrfam_Ade_phspho_trans - no_errors APRT HGNC ENSG00000198931 tier1 - - 45 0 0.00 47 4 7.84 AQP10 0 genome.wustl.edu 37 1 154296077 154296077 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 154296077 154296077 G T SNP AQP10 ENST00000324978 human ensembl 74_37 +1 known missense c.502 p.G168W 0.000 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_10,prints_Aquaporin_3,tigrfam_MIP - no_errors AQP10 HGNC ENSG00000143595 tier1 - - 125 0 0.00 119 40 25.16 AQP12A 0 genome.wustl.edu 37 2 241631890 241631890 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 241631890 241631890 T C SNP AQP12A ENST00000429564 human ensembl 74_37 +1 known missense c.559 p.Y187H 0.018 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP - no_errors AQP12A HGNC ENSG00000184945 tier1 - - 39 0 0.00 30 6 16.67 AQP12B 0 genome.wustl.edu 37 2 241621696 241621696 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 241621696 241621696 A G SNP AQP12B ENST00000407834 human ensembl 74_37 -1 known missense c.559 p.Y187H 0.066 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP - no_errors AQP12B HGNC ENSG00000185176 tier1 - - 20 0 0.00 10 4 28.57 AQP3 0 genome.wustl.edu 37 9 33443746 33443746 + RNA SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 33443746 33443746 G T SNP AQP3 ENST00000493581 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors AQP3 HGNC ENSG00000165272 tier1 - - 62 0 0.00 39 4 9.30 AQPEP 0 genome.wustl.edu 37 5 115327857 115327857 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 115327857 115327857 G T SNP AQPEP ENST00000357872 human ensembl 74_37 +1 known missense c.1143 p.M381I 1.000 pfam_Peptidase_M1_N,prints_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_gn ENSG00000172901 tier1 - - 33 0 0.00 31 5 13.89 ARAP2 0 genome.wustl.edu 37 4 36160352 36160352 + Nonsense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 36160352 36160352 C A SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known nonsense c.2752 p.E918* 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 tier1 - - 45 0 0.00 20 10 33.33 ARAP2 0 genome.wustl.edu 37 4 36212270 36212270 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 36212270 36212270 G T SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known missense c.1229 p.A410D 0.967 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 tier1 - - 47 0 0.00 58 4 6.35 ARAP3 0 genome.wustl.edu 37 5 141052865 141052866 + RNA INS - - C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 141052865 141052866 - C INS ARAP3 ENST00000524066 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.001 - - - no_errors ARAP3 HGNC ENSG00000120318 tier1 18 0 0.00 17 4 19.05 ARFGEF1 0 genome.wustl.edu 37 8 68113742 68113742 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 68113742 68113742 G A SNP ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known missense c.5227 p.R1743C 1.000 NULL pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 tier1 - - 59 0 0.00 52 21 28.77 ARFIP1 0 genome.wustl.edu 37 4 153833145 153833145 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 153833145 153833145 A - DEL ARFIP1 ENST00000510497 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ARFIP1 HGNC ENSG00000164144 tier1 23 0 0.00 18 14 43.75 ARG1 0 genome.wustl.edu 37 6 131894346 131894346 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 131894346 131894346 A - DEL ARG1 ENST00000469293 human ensembl 74_37 +1 known rna NULL NULL 0.285 - - - no_errors ARG1 HGNC ENSG00000118520 tier1 23 0 0.00 16 8 33.33 ARGLU1 0 genome.wustl.edu 37 13 107196174 107196177 + RNA DEL AAAA AAAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 107196174 107196177 AAAA - DEL ARGLU1 ENST00000472226 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.246:0.234:0.000 - - - no_errors ARGLU1 HGNC ENSG00000134884 tier1 13 0 0.00 22 3 12.00 ARHGAP23 0 genome.wustl.edu 37 17 36623506 36623506 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 36623506 36623506 C T SNP ARHGAP23 ENST00000431231 human ensembl 74_37 +1 known missense c.1582 p.R528C 0.196 NULL pfam_RhoGAP_dom,pfam_PDZ,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP23 HGNC ENSG00000225485 tier1 - - 48 0 0.00 18 18 50.00 ARHGAP25 0 genome.wustl.edu 37 2 69002247 69002247 + RNA DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 69002247 69002247 C - DEL ARHGAP25 ENST00000463061 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ARHGAP25 HGNC ENSG00000163219 tier1 38 0 0.00 18 11 37.93 ARHGEF11 0 genome.wustl.edu 37 1 156904838 156904838 + RNA SNP G G C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 156904838 156904838 G C SNP ARHGEF11 ENST00000487682 human ensembl 74_37 -1 known rna NULL NULL 0.026 - - - no_errors ARHGEF11 HGNC ENSG00000132694 tier1 - - 83 0 0.00 84 17 16.83 ARHGEF15 0 genome.wustl.edu 37 17 8224297 8224298 + Frame_Shift_Ins INS - - C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 8224297 8224298 - C INS ARHGEF15 ENST00000361926 human ensembl 74_37 +1 known frame_shift_ins c.2512_2513 p.P841fs 0.000:0.001 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 tier1 28 0 0.00 20 5 20.00 ARHGEF18 0 genome.wustl.edu 37 19 7504999 7504999 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 7504999 7504999 C T SNP ARHGEF18 ENST00000359920 human ensembl 74_37 +1 known missense c.173 p.A58V 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF18 HGNC ENSG00000104880 tier1 - - 55 0 0.00 25 16 39.02 ARHGEF18 0 genome.wustl.edu 37 19 7534888 7534888 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 7534888 7534888 G A SNP ARHGEF18 ENST00000359920 human ensembl 74_37 +1 known missense c.3322 p.G1108S 0.001 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF18 HGNC ENSG00000104880 tier1 - - 43 0 0.00 16 12 42.86 ARHGEF25 0 genome.wustl.edu 37 12 58008378 58008378 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 58008378 58008378 G A SNP ARHGEF25 ENST00000333972 human ensembl 74_37 +1 known missense c.923 p.S308N 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF25 HGNC ENSG00000240771 tier1 - - 74 0 0.00 68 4 5.56 ARHGEF26 0 genome.wustl.edu 37 3 153973715 153973715 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 153973715 153973715 T - DEL ARHGEF26 ENST00000483068 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ARHGEF26 HGNC ENSG00000114790 tier1 15 0 0.00 4 9 69.23 ARHGEF37 0 genome.wustl.edu 37 5 148980676 148980676 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 148980676 148980676 G A SNP ARHGEF37 ENST00000333677 human ensembl 74_37 +1 known silent c.192 p.P64 0.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF37 HGNC ENSG00000183111 tier1 - - 68 0 0.00 54 25 31.65 ARID1A 0 genome.wustl.edu 37 1 27099461 27099462 + Frame_Shift_Ins INS - - TG TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 27099461 27099462 - TG INS ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_ins c.3698_3699 p.G1234fs 1.000:1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 tier1 27 0 0.00 24 13 35.14 ARID5A 0 genome.wustl.edu 37 2 97216896 97216896 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 97216896 97216896 C - DEL ARID5A ENST00000357485 human ensembl 74_37 +1 known frame_shift_del c.631 p.R213fs 0.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5A HGNC ENSG00000196843 tier1 40 0 0.00 24 2 7.69 ARMC4 0 genome.wustl.edu 37 10 28233164 28233164 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 28233164 28233164 C - DEL ARMC4 ENST00000305242 human ensembl 74_37 -1 known frame_shift_del c.1730 p.G577fs 1.000 superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 tier1 67 0 0.00 40 25 38.46 ARMC5 0 genome.wustl.edu 37 16 31474229 31474229 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 31474229 31474229 G A SNP ARMC5 ENST00000408912 human ensembl 74_37 +1 known missense c.1646 p.R549Q 0.960 NULL superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like - no_errors ARMC5 HGNC ENSG00000140691 tier1 - - 43 0 0.00 28 11 28.21 ARNTL2 0 genome.wustl.edu 37 12 27573424 27573424 + Nonsense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 27573424 27573424 G T SNP ARNTL2 ENST00000266503 human ensembl 74_37 +1 known nonsense c.1870 p.G624* 0.984 NULL pfam_PAS_fold,pfam_PAS_fold_3,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors ARNTL2 HGNC ENSG00000029153 25 0 0.00 57 4 6.56 ARSD 0 genome.wustl.edu 37 X 2828792 2828792 + Nonsense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 2828792 2828792 G T SNP ARSD ENST00000381154 human ensembl 74_37 -1 known nonsense c.1043 p.S348* 0.016 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSD HGNC ENSG00000006756 tier1 - - 61 0 0.00 69 4 5.48 ARSD-AS1 0 genome.wustl.edu 37 X 2822945 2822947 + RNA DEL TTT TTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 2822945 2822947 TTT - DEL ARSD-AS1 ENST00000414053 human ensembl 74_37 +1 known rna NULL NULL 0.012:0.010:0.007 - - - no_errors ARSD-AS1 HGNC ENSG00000229851 tier1 18 0 0.00 5 5 50.00 ARSJ 0 genome.wustl.edu 37 4 114823494 114823494 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 114823494 114823494 T - DEL ARSJ ENST00000315366 human ensembl 74_37 -1 known frame_shift_del c.1736 p.K579fs 0.628 NULL pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSJ HGNC ENSG00000180801 tier1 23 0 0.00 3 7 70.00 ARVCF 0 genome.wustl.edu 37 22 19967479 19967479 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 19967479 19967479 G A SNP ARVCF ENST00000263207 human ensembl 74_37 -1 known missense c.1183 p.R395C 0.989 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ENSG00000099889 tier1 - - 24 0 0.00 14 6 30.00 ASCC2 0 genome.wustl.edu 37 22 30189349 30189349 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 30189349 30189349 C A SNP ASCC2 ENST00000307790 human ensembl 74_37 -1 known missense c.1919 p.R640M 1.000 NULL pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE - no_errors ASCC2 HGNC ENSG00000100325 tier1 - - 51 0 0.00 30 16 34.78 ASF1A 0 genome.wustl.edu 37 6 119226836 119226836 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 119226836 119226836 G T SNP ASF1A ENST00000229595 human ensembl 74_37 +1 known missense c.245 p.G82V 1.000 pfam_Histone_chaperone_ASF1-like,superfamily_Histone_chaperone_ASF1-like pfam_Histone_chaperone_ASF1-like,superfamily_Histone_chaperone_ASF1-like - no_errors ASF1A HGNC ENSG00000111875 tier1 - - 55 0 0.00 47 5 9.62 ASH2L 0 genome.wustl.edu 37 8 37985908 37985908 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 37985908 37985908 A G SNP ASH2L ENST00000343823 human ensembl 74_37 +1 known missense c.1265 p.Y422C 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY - no_errors ASH2L HGNC ENSG00000129691 tier1 - - 62 0 0.00 65 27 29.35 ASIC1 0 genome.wustl.edu 37 12 50467800 50467800 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 50467800 50467800 C T SNP ASIC1 ENST00000552438 human ensembl 74_37 +1 putative missense c.433 p.R145W 1.000 pfam_Na+channel_ASC,prints_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC1 HGNC ENSG00000110881 tier1 - - 43 0 0.00 21 24 53.33 ASNSD1 0 genome.wustl.edu 37 2 190530112 190530112 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 190530112 190530112 G T SNP ASNSD1 ENST00000607829 human ensembl 74_37 +1 putative missense c.155 p.R52M 0.841 NULL NULL - no_errors ASNSD1 HGNC ENSG00000138381 tier1 - - 65 0 0.00 25 19 43.18 ASPM 0 genome.wustl.edu 37 1 197073232 197073232 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 197073232 197073232 T - DEL ASPM ENST00000367409 human ensembl 74_37 -1 known frame_shift_del c.5149 p.I1717fs 0.000 superfamily_ARM-type_fold pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 tier1 53 0 0.00 77 19 19.79 ASTE1 0 genome.wustl.edu 37 3 130733047 130733047 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 130733047 130733047 T - DEL ASTE1 ENST00000264992 human ensembl 74_37 -1 known frame_shift_del c.1894 p.R632fs 0.014 NULL pfam_XPG_DNA_repair_N - no_errors ASTE1 HGNC ENSG00000034533 tier1 17 0 0.00 18 8 30.77 ASTN1 0 genome.wustl.edu 37 1 176833508 176833508 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 176833508 176833508 G A SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known missense c.3821 p.A1274V 0.976 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 tier1 - - 64 0 0.00 35 15 30.00 ASXL1 0 genome.wustl.edu 37 20 31021423 31021423 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 31021423 31021423 C T SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known silent c.1422 p.P474 0.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 tier1 - - 52 0 0.00 16 16 50.00 ATAD2 0 genome.wustl.edu 37 8 124384893 124384893 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 124384893 124384893 T - DEL ATAD2 ENST00000287394 human ensembl 74_37 -1 known frame_shift_del c.354 p.E119fs 0.995 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 tier1 36 0 0.00 41 26 38.81 ATCAY 0 genome.wustl.edu 37 19 3913846 3913846 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 3913846 3913846 C T SNP ATCAY ENST00000301260 human ensembl 74_37 +1 known silent c.957 p.C319 0.937 smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors ATCAY HGNC ENSG00000167654 tier1 - - 33 0 0.00 30 16 34.78 ATF6 0 genome.wustl.edu 37 1 161751764 161751764 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 161751764 161751764 G T SNP ATF6 ENST00000367942 human ensembl 74_37 +1 known missense c.222 p.W74C 0.984 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF6 HGNC ENSG00000118217 tier1 - - 53 0 0.00 69 4 5.48 ATF7IP 0 genome.wustl.edu 37 12 14649259 14649261 + In_Frame_Del DEL ACC ACC - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 ACC ACC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 14649259 14649261 ACC - DEL ATF7IP ENST00000261168 human ensembl 74_37 +1 known in_frame_del c.3375_3377 p.P1127in_frame_del 0.882:1.000:1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 tier1 26 0 0.00 51 16 23.88 ATG2B 0 genome.wustl.edu 37 14 96783572 96783572 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 96783572 96783572 T - DEL ATG2B ENST00000359933 human ensembl 74_37 -1 known frame_shift_del c.3120 p.K1040fs 0.052 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 tier1 33 0 0.00 37 12 24.49 ATG2B 0 genome.wustl.edu 37 14 96788614 96788614 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 96788614 96788614 A - DEL ATG2B ENST00000488421 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ATG2B HGNC ENSG00000066739 tier1 18 0 0.00 32 8 20.00 ATG9A 0 genome.wustl.edu 37 2 220089461 220089461 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 220089461 220089461 C T SNP ATG9A ENST00000361242 human ensembl 74_37 -1 known missense c.632 p.R211H 1.000 pfam_Autophagy-rel_prot_9 pfam_Autophagy-rel_prot_9,superfamily_Cyt_c_oxidase_su3 - no_errors ATG9A HGNC ENSG00000198925 tier1 - - 38 0 0.00 36 16 30.77 ATG9B 0 genome.wustl.edu 37 7 150709313 150709314 + RNA INS - - T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 150709313 150709314 - T INS ATG9B ENST00000494791 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ATG9B HGNC ENSG00000181652 tier1 8 0 0.00 4 6 60.00 ATG9B 0 genome.wustl.edu 37 7 150720306 150720307 + RNA INS - - G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 150720306 150720307 - G INS ATG9B ENST00000473698 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.007 - - - no_errors ATG9B HGNC ENSG00000181652 tier1 51 0 0.00 36 12 25.00 ATG9B 0 genome.wustl.edu 37 7 150721484 150721484 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 150721484 150721484 C 0 DEL ATG9B ENST00000377974 human ensembl 74_37 -1 known frame_shift_del c.27 p.R10fs 0.511 NULL pfam_Autophagy-rel_prot_9 - no_errors ATG9B HGNC ENSG00000181652 10 0 0.00 6 3 33.33 ATL3 0 genome.wustl.edu 37 11 63398665 63398665 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 63398665 63398665 G T SNP ATL3 ENST00000332645 human ensembl 74_37 -1 known silent c.1467 p.G489 1.000 NULL pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors ATL3 HGNC ENSG00000184743 54 0 0.00 63 4 5.97 ATMIN 0 genome.wustl.edu 37 16 81077608 81077608 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 81077608 81077608 C T SNP ATMIN ENST00000299575 human ensembl 74_37 +1 known missense c.1505 p.T502M 0.000 NULL smart_Znf_C2H2-like - no_errors ATMIN HGNC ENSG00000166454 tier1 - - 46 0 0.00 29 13 30.95 ATP10A 0 genome.wustl.edu 37 15 25959230 25959230 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 25959230 25959230 C T SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known silent c.1935 p.P645 0.553 superfamily_HAD-like_dom pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 tier1 - - 196 0 0.00 88 58 39.73 ATP10A 0 genome.wustl.edu 37 15 26107956 26107956 + Silent SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 26107956 26107956 C A SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known silent c.288 p.L96 1.000 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 tier1 - - 80 0 0.00 50 17 25.37 ATP10B 0 genome.wustl.edu 37 5 160067536 160067536 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 160067536 160067536 C T SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known missense c.932 p.R311Q 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10B HGNC ENSG00000118322 tier1 - - 84 0 0.00 58 27 31.76 ATP13A2 0 genome.wustl.edu 37 1 17316763 17316763 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 17316763 17316763 C T SNP ATP13A2 ENST00000326735 human ensembl 74_37 -1 known silent c.2271 p.A757 0.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A2 HGNC ENSG00000159363 tier1 - - 76 0 0.00 30 19 38.78 ATP1A1 0 genome.wustl.edu 37 1 116927462 116927462 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 116927462 116927462 C T SNP ATP1A1 ENST00000295598 human ensembl 74_37 +1 known missense c.181 p.R61W 1.000 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A1 HGNC ENSG00000163399 tier1 - - 74 0 0.00 49 25 33.78 ATP1A1 0 genome.wustl.edu 37 1 116930848 116930849 + Frame_Shift_Ins INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 116930848 116930849 - A INS ATP1A1 ENST00000295598 human ensembl 74_37 +1 known frame_shift_ins c.483_484 p.N162fs 1.000:1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A1 HGNC ENSG00000163399 tier1 30 0 0.00 25 9 26.47 ATP1A2 0 genome.wustl.edu 37 1 160091008 160091008 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 160091008 160091008 G T SNP ATP1A2 ENST00000361216 human ensembl 74_37 +1 known missense c.144 p.E48D 1.000 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A2 HGNC ENSG00000018625 tier1 - - 82 0 0.00 112 6 5.08 ATP1A4 0 genome.wustl.edu 37 1 160125039 160125039 + Splice_Site SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 160125039 160125039 G A SNP ATP1A4 ENST00000368081 human ensembl 74_37 +1 known splice_site c.411+1 e3+1 1.000 - - - no_errors ATP1A4 HGNC ENSG00000132681 tier1 - - 27 0 0.00 41 19 31.67 ATP2A1 0 genome.wustl.edu 37 16 28913313 28913313 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 28913313 28913313 G A SNP ATP2A1 ENST00000357084 human ensembl 74_37 +1 known missense c.2230 p.V744I 1.000 superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A1 HGNC ENSG00000196296 tier1 - - 89 0 0.00 35 30 45.45 ATP2B1 0 genome.wustl.edu 37 12 90010583 90010583 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 90010583 90010583 G T SNP ATP2B1 ENST00000261173 human ensembl 74_37 -1 known missense c.2063 p.P688H 1.000 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B1 HGNC ENSG00000070961 50 0 0.00 54 3 5.26 ATP2B4 0 genome.wustl.edu 37 1 203689833 203689833 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 203689833 203689833 G A SNP ATP2B4 ENST00000357681 human ensembl 74_37 +1 known missense c.2563 p.V855M 1.000 tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B4 HGNC ENSG00000058668 tier1 - - 109 0 0.00 91 39 30.00 ATP5G2 0 genome.wustl.edu 37 12 54063863 54063863 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 54063863 54063863 G A SNP ATP5G2 ENST00000549748 human ensembl 74_37 -1 known silent c.75 p.N25 0.000 NULL NULL - no_errors ATP5G2 HGNC ENSG00000135390 tier1 - - 8 0 0.00 6 4 40.00 ATP6V0A4 0 genome.wustl.edu 37 7 138413561 138413561 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 138413561 138413561 G T SNP ATP6V0A4 ENST00000310018 human ensembl 74_37 -1 known missense c.1955 p.P652Q 0.998 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A4 HGNC ENSG00000105929 tier1 - - 36 0 0.00 26 10 27.78 ATP6V0A4 0 genome.wustl.edu 37 7 138417705 138417705 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 138417705 138417705 C T SNP ATP6V0A4 ENST00000310018 human ensembl 74_37 -1 known missense c.1825 p.A609T 1.000 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A4 HGNC ENSG00000105929 tier1 - - 61 0 0.00 58 4 6.45 ATP8B3 0 genome.wustl.edu 37 19 1788961 1788963 + In_Frame_Del DEL AGA AGA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 1788961 1788963 AGA - DEL ATP8B3 ENST00000539485 human ensembl 74_37 -1 known in_frame_del c.3034_3032 p.F1011in_frame_del 1.000:1.000:1.000 tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B3 HGNC ENSG00000130270 tier1 84 0 0.00 37 24 39.34 ATP8B3 0 genome.wustl.edu 37 19 1799764 1799766 + In_Frame_Del DEL AAA AAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 1799764 1799766 AAA - DEL ATP8B3 ENST00000526092 human ensembl 74_37 -1 putative in_frame_del c.1575_1573 p.F525in_frame_del 0.016:0.015:0.015 NULL pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom - no_errors ATP8B3 HGNC ENSG00000130270 tier1 9 0 0.00 9 5 35.71 ATP8B5P 0 genome.wustl.edu 37 9 35446471 35446471 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 35446471 35446471 G A SNP ATP8B5P ENST00000329395 human ensembl 74_37 +1 known rna NULL NULL 0.487 - - - no_errors ATP8B5P HGNC ENSG00000179766 tier1 - - 56 0 0.00 31 25 44.64 ATP9A 0 genome.wustl.edu 37 20 50235287 50235287 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 50235287 50235287 A G SNP ATP9A ENST00000338821 human ensembl 74_37 -1 known missense c.2264 p.V755A 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9A HGNC ENSG00000054793 tier1 - - 126 0 0.00 57 49 46.23 ATR 0 genome.wustl.edu 37 3 142274740 142274741 + Frame_Shift_Del DEL TT TT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 142274740 142274741 TT - DEL ATR ENST00000350721 human ensembl 74_37 -1 known frame_shift_del c.2320_2319 p.K773fs 0.000:0.001 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 tier1 39 0 0.00 38 12 24.00 ATRX 0 genome.wustl.edu 37 X 76763680 76763681 + RNA DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 76763680 76763681 AA - DEL ATRX ENST00000480283 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.001 - - - no_errors ATRX HGNC ENSG00000085224 tier1 12 0 0.00 9 3 25.00 ATRX 0 genome.wustl.edu 37 X 76891501 76891501 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 76891501 76891501 G T SNP ATRX ENST00000373344 human ensembl 74_37 -1 known missense c.4604 p.T1535N 1.000 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 78 0 0.00 63 4 5.97 ATXN2 0 genome.wustl.edu 37 12 111926574 111926574 + Missense_Mutation SNP C C G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 111926574 111926574 C G SNP ATXN2 ENST00000377617 human ensembl 74_37 -1 known missense c.2426 p.S809T 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2 HGNC ENSG00000204842 tier1 - - 60 0 0.00 50 31 38.27 ATXN8OS 0 genome.wustl.edu 37 13 70713521 70713521 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 70713521 70713521 G A SNP ATXN8OS ENST00000414504 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ATXN8OS HGNC ENSG00000230223 tier1 rs5002471 - 37 0 0.00 60 8 11.76 ATXN8OS 0 genome.wustl.edu 37 13 70713524 70713524 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 70713524 70713524 G A SNP ATXN8OS ENST00000414504 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ATXN8OS HGNC ENSG00000230223 tier1 rs112128542 - 36 0 0.00 60 8 11.76 AXDND1 0 genome.wustl.edu 37 1 179363073 179363073 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 179363073 179363073 G A SNP AXDND1 ENST00000367618 human ensembl 74_37 +1 known missense c.899 p.R300Q 0.969 pfam_Axonemal_dynein_light_chain pfam_Axonemal_dynein_light_chain - no_errors AXDND1 HGNC ENSG00000162779 tier1 - - 65 0 0.00 74 46 38.33 AXL 0 genome.wustl.edu 37 19 41727120 41727120 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 41727120 41727120 C T SNP AXL ENST00000301178 human ensembl 74_37 +1 known silent c.378 p.F126 0.020 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 tier1 - - 120 0 0.00 64 48 42.86 AXL 0 genome.wustl.edu 37 19 41743933 41743933 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 41743933 41743933 C - DEL AXL ENST00000301178 human ensembl 74_37 +1 known frame_shift_del c.868 p.H292fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 tier1 52 0 0.00 32 9 21.95 AZI1 0 genome.wustl.edu 37 17 79164775 79164775 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 79164775 79164775 C T SNP AZI1 ENST00000269392 human ensembl 74_37 -1 known missense c.2884 p.E962K 0.998 superfamily_t-SNARE superfamily_t-SNARE - no_errors AZI1 HGNC ENSG00000141577 tier1 - - 54 0 0.00 32 22 40.74 B2M 0 genome.wustl.edu 37 15 45003745 45003745 + Missense_Mutation SNP A A T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 45003745 45003745 A T SNP B2M ENST00000544417 human ensembl 74_37 +1 known missense c.1 p.M1L 0.685 NULL pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors B2M HGNC ENSG00000166710 tier1 - - 62 0 0.00 22 25 53.19 B2M 0 genome.wustl.edu 37 15 45007798 45007801 + Frame_Shift_Del DEL TCTA TCTA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TCTA TCTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 45007798 45007801 TCTA - DEL B2M ENST00000544417 human ensembl 74_37 +1 known frame_shift_del c.245_248 p.Y83fs 1.000:1.000:0.992:0.989 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors B2M HGNC ENSG00000166710 tier1 93 0 0.00 65 27 29.35 B2M 0 genome.wustl.edu 37 15 45007801 45007801 + Missense_Mutation SNP A A T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 45007801 45007801 A T SNP B2M ENST00000544417 human ensembl 74_37 +1 known missense c.248 p.Y83F 0.989 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors B2M HGNC ENSG00000166710 97 0 0.00 59 5 7.35 B3GAT2 0 genome.wustl.edu 37 6 71666061 71666061 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 71666061 71666061 G A SNP B3GAT2 ENST00000230053 human ensembl 74_37 -1 known silent c.72 p.D24 1.000 NULL pfam_Glyco_trans_43 - no_errors B3GAT2 HGNC ENSG00000112309 tier1 - - 69 0 0.00 19 13 40.62 B3GNT7 0 genome.wustl.edu 37 2 232263177 232263177 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 232263177 232263177 C T SNP B3GNT7 ENST00000287590 human ensembl 74_37 +1 known silent c.747 p.N249 1.000 pfam_Glyco_trans_31,pfam_Fringe-like pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT7 HGNC ENSG00000156966 tier1 - - 30 0 0.00 13 3 18.75 B4GALNT1 0 genome.wustl.edu 37 12 58025103 58025103 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 58025103 58025103 C - DEL B4GALNT1 ENST00000341156 human ensembl 74_37 -1 known frame_shift_del c.263 p.G88fs 0.099 pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT1 HGNC ENSG00000135454 tier1 43 0 0.00 27 8 22.86 B4GALNT1 0 genome.wustl.edu 37 12 58025802 58025802 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 58025802 58025802 C T SNP B4GALNT1 ENST00000341156 human ensembl 74_37 -1 known silent c.114 p.A38 0.367 pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT1 HGNC ENSG00000135454 tier1 - - 42 0 0.00 17 13 43.33 B4GALNT4 0 genome.wustl.edu 37 11 380921 380921 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 380921 380921 G - DEL B4GALNT4 ENST00000329962 human ensembl 74_37 +1 known frame_shift_del c.2966 p.G991fs 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC ENSG00000182272 tier1 58 0 0.00 25 21 45.65 B4GALT2 0 genome.wustl.edu 37 1 44451262 44451262 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 44451262 44451262 C T SNP B4GALT2 ENST00000309519 human ensembl 74_37 +1 known missense c.1024 p.R342C 1.000 pfam_Galactosyl_T_C pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT2 HGNC ENSG00000117411 15 0 0.00 6 3 33.33 B9D1 0 genome.wustl.edu 37 17 19261171 19261171 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 19261171 19261171 T - DEL B9D1 ENST00000261499 human ensembl 74_37 -1 known frame_shift_del c.226 p.S76fs 1.000 pfam_B9_dom pfam_B9_dom - no_errors B9D1 HGNC ENSG00000108641 tier1 49 0 0.00 20 15 42.86 BAHCC1 0 genome.wustl.edu 37 17 79409064 79409064 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 79409064 79409064 G A SNP BAHCC1 ENST00000307745 human ensembl 74_37 +1 known missense c.689 p.G230D 0.893 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors RP11-1055B8.7 Clone_based_vega_gene ENSG00000171282 tier1 - - 39 0 0.00 14 12 46.15 BAHCC1 0 genome.wustl.edu 37 17 79410506 79410506 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 79410506 79410506 C T SNP BAHCC1 ENST00000307745 human ensembl 74_37 +1 known missense c.2131 p.R711W 1.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors RP11-1055B8.7 Clone_based_vega_gene ENSG00000171282 22 0 0.00 16 7 30.43 BAI1 0 genome.wustl.edu 37 8 143603442 143603442 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 143603442 143603442 C T SNP BAI1 ENST00000323289 human ensembl 74_37 +1 known silent c.3141 p.R1047 1.000 pfam_GPCR_2_secretin-like,prints_GPCR_2_brain-spec_angio_inhib,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 tier1 - - 59 0 0.00 40 16 28.57 BAI2 0 genome.wustl.edu 37 1 32200983 32200984 + RNA DEL GA GA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 32200983 32200984 GA - DEL BAI2 ENST00000465256 human ensembl 74_37 -1 known rna NULL NULL 0.643:0.996 - - - no_errors BAI2 HGNC ENSG00000121753 tier1 33 0 0.00 10 7 41.18 BAI2 0 genome.wustl.edu 37 1 32201935 32201935 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 32201935 32201935 C T SNP BAI2 ENST00000373658 human ensembl 74_37 -1 known missense c.3187 p.G1063S 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 tier1 - - 65 0 0.00 18 31 62.00 BAI2 0 genome.wustl.edu 37 1 32221807 32221807 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 32221807 32221807 C T SNP BAI2 ENST00000373658 human ensembl 74_37 -1 known missense c.631 p.A211T 0.100 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 tier1 - - 21 0 0.00 12 8 40.00 BAIAP2 0 genome.wustl.edu 37 17 79077331 79077331 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 79077331 79077331 G A SNP BAIAP2 ENST00000321300 human ensembl 74_37 +1 known silent c.672 p.P224 0.001 pfam_IRSp53/MIM_homology_IMD pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2 HGNC ENSG00000175866 tier1 - - 16 0 0.00 7 5 41.67 BAIAP2-AS1 0 genome.wustl.edu 37 17 79006821 79006821 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 79006821 79006821 G A SNP BAIAP2-AS1 ENST00000573167 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors BAIAP2-AS1 HGNC ENSG00000226137 tier1 - - 69 0 0.00 30 12 28.57 BATF 0 genome.wustl.edu 37 14 76012833 76012833 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 76012833 76012833 C T SNP BATF ENST00000286639 human ensembl 74_37 +1 known missense c.197 p.A66V 1.000 pfam_bZIP,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors BATF HGNC ENSG00000156127 tier1 - - 49 0 0.00 16 13 43.33 BAX 0 genome.wustl.edu 37 19 49458971 49458971 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 49458971 49458971 G - DEL BAX ENST00000293288 human ensembl 74_37 +1 known frame_shift_del c.114 p.E41fs 0.588 NULL pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam - no_errors BAX HGNC ENSG00000087088 tier1 79 0 0.00 52 18 25.71 BAZ2A 0 genome.wustl.edu 37 12 56992712 56992712 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 56992712 56992712 C T SNP BAZ2A ENST00000551812 human ensembl 74_37 -1 known missense c.5492 p.R1831Q 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC ENSG00000076108 tier1 - - 30 0 0.00 9 10 52.63 BAZ2A 0 genome.wustl.edu 37 12 56995512 56995512 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 56995512 56995512 G T SNP BAZ2A ENST00000551812 human ensembl 74_37 -1 known missense c.3895 p.P1299T 0.471 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC ENSG00000076108 tier1 - - 38 0 0.00 17 22 56.41 BAZ2A 0 genome.wustl.edu 37 12 57000030 57000030 + Splice_Site SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 57000030 57000030 C T SNP BAZ2A ENST00000551812 human ensembl 74_37 -1 known splice_site c.2265+1 e12+1 1.000 - - - no_errors BAZ2A HGNC ENSG00000076108 tier1 - - 187 0 0.00 129 62 32.46 BBS10 0 genome.wustl.edu 37 12 76741019 76741019 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 76741019 76741019 C T SNP BBS10 ENST00000393262 human ensembl 74_37 -1 known missense c.746 p.R249H 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom - no_errors BBS10 HGNC ENSG00000179941 tier1 - - 34 0 0.00 22 12 35.29 BBS9 0 genome.wustl.edu 37 7 33296864 33296864 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 33296864 33296864 C T SNP BBS9 ENST00000242067 human ensembl 74_37 +1 known silent c.459 p.C153 0.998 NULL NULL - no_errors BBS9 HGNC ENSG00000122507 tier1 - - 52 0 0.00 36 4 10.00 BCAP29 0 genome.wustl.edu 37 7 107221266 107221266 + Nonsense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 107221266 107221266 G T SNP BCAP29 ENST00000379119 human ensembl 74_37 +1 known nonsense c.49 p.G17* 1.000 pfam_Bap31 pfam_Bap31 - no_errors BCAP29 HGNC ENSG00000075790 tier1 - - 33 0 0.00 28 20 41.67 BCHE 0 genome.wustl.edu 37 3 165547749 165547749 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 165547749 165547749 A - DEL BCHE ENST00000264381 human ensembl 74_37 -1 known frame_shift_del c.1073 p.L358fs 0.998 pfam_CarbesteraseB,prints_Cholinesterase pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 tier1 36 0 0.00 37 24 39.34 BCL2L2 0 genome.wustl.edu 37 14 23778157 23778157 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 23778157 23778157 T - DEL BCL2L2 ENST00000250405 human ensembl 74_37 +1 known frame_shift_del c.565 p.F190fs 1.000 NULL pfam_Blc2_fam,pfam_Bcl2_BH4,smart_Bcl2_BH4,pfscan_Bcl2-like,pfscan_Bcl2_BH4,prints_Apop_reg_BclW,prints_Blc2_fam - no_errors BCL2L2 HGNC ENSG00000129473 tier1 34 0 0.00 13 6 31.58 BCL9L 0 genome.wustl.edu 37 11 118768995 118768995 + RNA SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 118768995 118768995 C A SNP BCL9L ENST00000526143 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors BCL9L HGNC ENSG00000186174 tier1 - - 21 0 0.00 10 5 33.33 BCORL1 0 genome.wustl.edu 37 X 129149744 129149744 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 129149744 129149744 C - DEL BCORL1 ENST00000303743 human ensembl 74_37 +1 known frame_shift_del c.2996 p.Q1001fs 0.986 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 tier1 53 0 0.00 9 16 64.00 BDH2 0 genome.wustl.edu 37 4 104016363 104016363 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 104016363 104016363 G T SNP BDH2 ENST00000296424 human ensembl 74_37 -1 known missense c.148 p.P50T 0.698 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect - no_errors BDH2 HGNC ENSG00000164039 tier1 - - 70 0 0.00 60 4 6.25 BDNF 0 genome.wustl.edu 37 11 27679080 27679081 + RNA INS - - T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 27679080 27679081 - T INS BDNF ENST00000584049 human ensembl 74_37 -1 known rna NULL NULL 0.395:1.000 - - - no_errors BDNF HGNC ENSG00000176697 tier1 15 0 0.00 6 6 50.00 BDP1 0 genome.wustl.edu 37 5 70766232 70766233 + Frame_Shift_Ins INS - - T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 70766232 70766233 - T INS BDP1 ENST00000358731 human ensembl 74_37 +1 known frame_shift_ins c.930_931 p.L312fs 1.000:1.000 superfamily_Homeodomain-like,smart_SANT/Myb superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 tier1 32 0 0.00 30 16 34.78 BEND3 0 genome.wustl.edu 37 6 107391188 107391188 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 107391188 107391188 C T SNP BEND3 ENST00000369042 human ensembl 74_37 -1 known missense c.1207 p.E403K 1.000 NULL pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 tier1 - - 26 0 0.00 20 13 39.39 BEND3 0 genome.wustl.edu 37 6 107391210 107391210 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 107391210 107391210 C A SNP BEND3 ENST00000369042 human ensembl 74_37 -1 known missense c.1185 p.Q395H 1.000 NULL pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 tier1 - - 34 0 0.00 14 14 50.00 BEND7 0 genome.wustl.edu 37 10 13568140 13568140 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 13568140 13568140 A - DEL BEND7 ENST00000396900 human ensembl 74_37 -1 known frame_shift_del c.143 p.L48fs 1.000 NULL pfam_BEN_domain - no_errors BEND7 HGNC ENSG00000165626 tier1 59 0 0.00 53 21 28.38 BEST3 0 genome.wustl.edu 37 12 70049362 70049362 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 70049362 70049362 G - DEL BEST3 ENST00000330891 human ensembl 74_37 -1 known frame_shift_del c.1332 p.R445fs 0.001 NULL pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC ENSG00000127325 tier1 95 0 0.00 49 26 34.67 BHLHA15 0 genome.wustl.edu 37 7 97841874 97841874 + Silent SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 97841874 97841874 C A SNP BHLHA15 ENST00000314018 human ensembl 74_37 +1 known silent c.253 p.R85 0.995 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors BHLHA15 HGNC ENSG00000180535 tier1 - - 20 0 0.00 7 7 50.00 BICD1 0 genome.wustl.edu 37 12 32491758 32491758 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 32491758 32491758 G T SNP BICD1 ENST00000281474 human ensembl 74_37 +1 known missense c.2609 p.R870M 1.000 NULL pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC_like_C_dom - no_errors BICD1 HGNC ENSG00000151746 tier1 - - 46 0 0.00 77 5 6.10 BICD2 0 genome.wustl.edu 37 9 95481635 95481635 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 95481635 95481635 C A SNP BICD2 ENST00000356884 human ensembl 74_37 -1 known missense c.1292 p.G431V 1.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 tier1 - - 92 0 0.00 35 33 48.53 BIRC6 0 genome.wustl.edu 37 2 32626374 32626374 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 32626374 32626374 C T SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.1178 p.S393L 0.994 superfamily_WD40_repeat_dom pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 tier1 - - 109 0 0.00 52 40 43.48 BIRC6 0 genome.wustl.edu 37 2 32740485 32740485 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 32740485 32740485 G A SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.10997 p.R3666H 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 tier1 - - 79 0 0.00 52 32 37.65 BLK 0 genome.wustl.edu 37 8 11412845 11412845 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 11412845 11412845 G - DEL BLK ENST00000259089 human ensembl 74_37 +1 known frame_shift_del c.624 p.D210fs 0.569 smart_SH2,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors BLK HGNC ENSG00000136573 tier1 36 0 0.00 22 10 31.25 BLNK 0 genome.wustl.edu 37 10 97969609 97969609 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 97969609 97969609 G A SNP BLNK ENST00000224337 human ensembl 74_37 -1 known missense c.731 p.P244L 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors BLNK HGNC ENSG00000095585 tier1 - - 67 0 0.00 30 14 31.82 BMI1 0 genome.wustl.edu 37 10 22615824 22615824 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 22615824 22615824 A - DEL BMI1 ENST00000376663 human ensembl 74_37 +1 known frame_shift_del c.118 p.T41fs 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors BMI1 HGNC ENSG00000168283 tier1 66 0 0.00 49 28 36.36 BMP2 0 genome.wustl.edu 37 20 6751098 6751098 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 6751098 6751098 G A SNP BMP2 ENST00000378827 human ensembl 74_37 +1 known missense c.325 p.V109M 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP2 HGNC ENSG00000125845 tier1 - - 50 0 0.00 35 20 36.36 BMPR2 0 genome.wustl.edu 37 2 203420804 203420804 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 203420804 203420804 A G SNP BMPR2 ENST00000374580 human ensembl 74_37 +1 known missense c.2416 p.M806V 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR2 HGNC ENSG00000204217 tier1 - - 61 0 0.00 28 21 42.86 BMS1P20 0 genome.wustl.edu 37 22 22661547 22661547 + RNA SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 22661547 22661547 G T SNP BMS1P20 ENST00000426066 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors BMS1P20 HGNC ENSG00000236850 tier1 - - 362 0 0.00 202 91 31.06 BMS1P5 0 genome.wustl.edu 37 10 48930118 48930118 + RNA SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 48930118 48930118 T C SNP BMS1P5 ENST00000449800 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors BMS1P5 HGNC ENSG00000204164 tier1 - - 50 0 0.00 62 15 19.48 BNC1 0 genome.wustl.edu 37 15 83932172 83932172 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 83932172 83932172 G T SNP BNC1 ENST00000345382 human ensembl 74_37 -1 known missense c.1831 p.R611S 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 71 0 0.00 56 3 5.08 BRCA2 0 genome.wustl.edu 37 13 32899266 32899266 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 32899266 32899266 A G SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.370 p.M124V 0.000 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 tier1 - - 79 0 0.00 48 66 57.89 BRD1 0 genome.wustl.edu 37 22 50181346 50181346 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 50181346 50181346 C T SNP BRD1 ENST00000457780 human ensembl 74_37 -1 known missense c.2549 p.R850H 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD1 HGNC ENSG00000100425 tier1 - - 43 0 0.00 12 17 58.62 BRD3 0 genome.wustl.edu 37 9 136915646 136915646 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 136915646 136915646 G - DEL BRD3 ENST00000303407 human ensembl 74_37 -1 known frame_shift_del c.564 p.T189fs 0.954 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 tier1 58 0 0.00 33 16 32.65 BRD4 0 genome.wustl.edu 37 19 15376314 15376314 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 15376314 15376314 C T SNP BRD4 ENST00000263377 human ensembl 74_37 -1 known missense c.700 p.V234I 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 tier1 - - 100 0 0.00 43 31 41.89 BRSK2 0 genome.wustl.edu 37 11 1475821 1475821 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 1475821 1475821 G A SNP BRSK2 ENST00000382179 human ensembl 74_37 +1 known missense c.1789 p.V597M 0.978 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BRSK2 HGNC ENSG00000174672 tier1 - - 53 0 0.00 25 12 32.43 BRWD1 0 genome.wustl.edu 37 21 40558989 40558989 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 40558989 40558989 A - DEL BRWD1 ENST00000333229 human ensembl 74_37 -1 known frame_shift_del c.6926 p.L2309fs 0.001 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 tier1 46 0 0.00 24 15 38.46 BSN 0 genome.wustl.edu 37 3 49691163 49691163 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 49691163 49691163 G T SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.4174 p.G1392W 0.006 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 tier1 - - 66 0 0.00 51 4 7.27 BTBD17 0 genome.wustl.edu 37 17 72353398 72353398 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 72353398 72353398 C T SNP BTBD17 ENST00000375366 human ensembl 74_37 -1 known missense c.835 p.G279S 0.991 NULL pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD17 HGNC ENSG00000204347 12 0 0.00 4 3 42.86 BTBD18 0 genome.wustl.edu 37 11 57512577 57512577 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 57512577 57512577 C T SNP BTBD18 ENST00000422652 human ensembl 74_37 -1 known missense c.1168 p.G390R 0.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors BTBD18 HGNC ENSG00000233436 42 0 0.00 32 7 17.95 BTF3L4 0 genome.wustl.edu 37 1 52530571 52530571 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 52530571 52530571 A - DEL BTF3L4 ENST00000313334 human ensembl 74_37 +1 known frame_shift_del c.129 p.K45fs 0.252 pfam_Nas_poly-pep-assoc_cplx_dom,pfscan_Nas_poly-pep-assoc_cplx_dom pfam_Nas_poly-pep-assoc_cplx_dom,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors BTF3L4 HGNC ENSG00000134717 tier1 56 0 0.00 48 27 36.00 BZRAP1-AS1 0 genome.wustl.edu 37 17 56431059 56431059 + RNA SNP A A T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 56431059 56431059 A T SNP BZRAP1-AS1 ENST00000578025 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors BZRAP1-AS1 HGNC ENSG00000265148 tier1 - - 29 0 0.00 17 3 15.00 C10orf137 0 genome.wustl.edu 37 10 127409791 127409791 + Nonsense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 127409791 127409791 G T SNP C10orf137 ENST00000356792 human ensembl 74_37 +1 known nonsense c.127 p.G43* 1.000 NULL NULL - no_errors C10orf137 HGNC ENSG00000107938 tier1 - - 60 0 0.00 56 4 6.67 C10orf35 0 genome.wustl.edu 37 10 71391530 71391530 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 71391530 71391530 G A SNP C10orf35 ENST00000373279 human ensembl 74_37 +1 known missense c.31 p.V11M 0.993 NULL NULL - no_errors C10orf35 HGNC ENSG00000171224 tier1 - - 78 0 0.00 39 21 35.00 C10orf67 0 genome.wustl.edu 37 10 23611349 23611349 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 23611349 23611349 G A SNP C10orf67 ENST00000323327 human ensembl 74_37 -1 known silent c.448 p.L150 0.000 NULL NULL - no_errors C10orf67 HGNC ENSG00000179133 tier1 - - 46 0 0.00 33 11 25.00 C10orf68 0 genome.wustl.edu 37 10 33137552 33137552 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 33137552 33137552 G A SNP C10orf68 ENST00000375025 human ensembl 74_37 +1 known missense c.1722 p.M574I 0.000 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 tier1 - - 28 0 0.00 17 12 41.38 C10orf76 0 genome.wustl.edu 37 10 103771512 103771512 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 103771512 103771512 G T SNP C10orf76 ENST00000370033 human ensembl 74_37 -1 known missense c.799 p.Q267K 1.000 superfamily_ARM-type_fold pfam_DUF1741,superfamily_ARM-type_fold - no_errors C10orf76 HGNC ENSG00000120029 tier1 - - 42 0 0.00 39 8 17.02 C10orf88 0 genome.wustl.edu 37 10 124711510 124711510 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 124711510 124711510 T - DEL C10orf88 ENST00000481909 human ensembl 74_37 -1 known frame_shift_del c.401 p.N134fs 0.704 NULL NULL - no_errors C10orf88 HGNC ENSG00000119965 tier1 32 0 0.00 30 15 33.33 C12orf43 0 genome.wustl.edu 37 12 121442025 121442025 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 121442025 121442025 C A SNP C12orf43 ENST00000288757 human ensembl 74_37 -1 known missense c.720 p.K240N 0.053 NULL NULL - no_errors C12orf43 HGNC ENSG00000157895 tier1 - - 154 0 0.00 90 41 31.30 C12orf54 0 genome.wustl.edu 37 12 48882265 48882265 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 48882265 48882265 A - DEL C12orf54 ENST00000548913 human ensembl 74_37 +1 known rna NULL NULL 0.084 - - - no_errors C12orf54 HGNC ENSG00000177627 tier1 12 0 0.00 7 8 53.33 C12orf55 0 genome.wustl.edu 37 12 96912781 96912781 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 96912781 96912781 T C SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative missense c.874 p.W292R 0.988 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 tier1 - - 102 0 0.00 79 48 37.50 C12orf55 0 genome.wustl.edu 37 12 97024359 97024359 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 97024359 97024359 A - DEL C12orf55 ENST00000524981 human ensembl 74_37 +1 putative frame_shift_del c.4246 p.K1418fs 0.001 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 tier1 49 0 0.00 45 19 29.69 C12orf66 0 genome.wustl.edu 37 12 64587767 64587767 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 64587767 64587767 G A SNP C12orf66 ENST00000398055 human ensembl 74_37 -1 known missense c.1193 p.P398L 1.000 pfam_DUF2003 pfam_DUF2003 - no_errors C12orf66 HGNC ENSG00000174206 tier1 - - 64 0 0.00 33 27 45.00 C12orf66 0 genome.wustl.edu 37 12 64615932 64615932 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 64615932 64615932 G T SNP C12orf66 ENST00000398055 human ensembl 74_37 -1 known missense c.86 p.S29Y 1.000 pfam_DUF2003 pfam_DUF2003 - no_errors C12orf66 HGNC ENSG00000174206 tier1 - - 61 0 0.00 52 4 7.14 C12orf68 0 genome.wustl.edu 37 12 48578460 48578460 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 48578460 48578460 G T SNP C12orf68 ENST00000316554 human ensembl 74_37 +1 known silent c.555 p.L185 1.000 NULL NULL - no_errors C12orf68 HGNC ENSG00000177875 tier1 - - 47 0 0.00 44 4 8.33 C12orf68 0 genome.wustl.edu 37 12 48578355 48578355 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 48578355 48578355 C T SNP C12orf68 ENST00000316554 human ensembl 74_37 +1 known silent c.450 p.P150 0.941 NULL NULL - no_errors C12orf68 HGNC ENSG00000177875 29 0 0.00 39 3 7.14 C14orf169 0 genome.wustl.edu 37 14 73959974 73959974 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 73959974 73959974 T - DEL C14orf169 ENST00000531973 human ensembl 74_37 +1 known rna NULL NULL 0.897 - - - no_errors C14orf169 HGNC ENSG00000255242 tier1 39 0 0.00 19 7 26.92 C15orf39 0 genome.wustl.edu 37 15 75499804 75499804 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 75499804 75499804 C - DEL C15orf39 ENST00000360639 human ensembl 74_37 +1 known frame_shift_del c.1415 p.P474fs 0.848 NULL NULL - no_errors C15orf39 HGNC ENSG00000167173 tier1 88 0 0.00 35 31 46.97 C16orf82 0 genome.wustl.edu 37 16 27080038 27080041 + RNA DEL TTTT TTTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTTT TTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 27080038 27080041 TTTT - DEL C16orf82 ENST00000418886 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.004:0.008 - - - no_errors C16orf82 HGNC ENSG00000234186 tier1 13 0 0.00 0 5 100.00 C16orf86 0 genome.wustl.edu 37 16 67700903 67700903 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 67700903 67700903 G A SNP C16orf86 ENST00000403458 human ensembl 74_37 +1 known silent c.30 p.P10 0.001 NULL NULL - no_errors C16orf86 HGNC ENSG00000159761 tier1 - - 41 0 0.00 7 18 72.00 C16orf93 0 genome.wustl.edu 37 16 30772913 30772913 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 30772913 30772913 C T SNP C16orf93 ENST00000543610 human ensembl 74_37 -1 known missense c.157 p.A53T 0.000 NULL NULL - no_errors C16orf93 HGNC ENSG00000196118 tier1 - - 109 0 0.00 51 37 42.05 C17orf107 0 genome.wustl.edu 37 17 4803728 4803728 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 4803728 4803728 G A SNP C17orf107 ENST00000381365 human ensembl 74_37 +1 known missense c.473 p.R158Q 0.012 NULL NULL - no_errors C17orf107 HGNC ENSG00000205710 tier1 - - 70 0 0.00 32 21 39.62 C17orf72 0 genome.wustl.edu 37 17 62078849 62078849 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 62078849 62078849 C - DEL C17orf72 ENST00000412177 human ensembl 74_37 +1 known frame_shift_del c.493 p.S167fs 1.000 NULL NULL - no_errors C17orf72 HGNC ENSG00000224383 tier1 52 0 0.00 24 20 45.45 C17orf77 0 genome.wustl.edu 37 17 72588242 72588242 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 72588242 72588242 G A SNP C17orf77 ENST00000328023 human ensembl 74_37 +1 known silent c.57 p.A19 0.000 NULL NULL - no_errors C17orf77 HGNC ENSG00000182352 tier1 rs143787635 - 38 0 0.00 37 21 36.21 C19orf25 0 genome.wustl.edu 37 19 1474829 1474829 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 1474829 1474829 C T SNP C19orf25 ENST00000588871 human ensembl 74_37 -1 putative silent c.468 p.P156 0.002 NULL NULL - no_errors C19orf25 HGNC ENSG00000119559 tier1 - - 54 0 0.00 44 19 30.16 C19orf38 0 genome.wustl.edu 37 19 10961063 10961063 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 10961063 10961063 G - DEL C19orf38 ENST00000397820 human ensembl 74_37 +1 known frame_shift_del c.160 p.Q56fs 0.009 NULL NULL - no_errors C19orf38 HGNC ENSG00000214212 tier1 102 0 0.00 24 18 42.86 C19orf48 0 genome.wustl.edu 37 19 51301954 51301954 + RNA SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 51301954 51301954 G T SNP C19orf48 ENST00000595794 human ensembl 74_37 -1 known rna NULL NULL 0.212 - - - no_errors C19orf48 HGNC ENSG00000167747 tier1 - - 102 0 0.00 60 4 6.25 C1orf109 0 genome.wustl.edu 37 1 38155688 38155688 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 38155688 38155688 T - DEL C1orf109 ENST00000472584 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors C1orf109 HGNC ENSG00000116922 tier1 15 0 0.00 7 4 36.36 C1orf132 0 genome.wustl.edu 37 1 207975272 207975272 + RNA SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 207975272 207975272 C A SNP C1orf132 ENST00000385231 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors C1orf132 HGNC ENSG00000203709 tier1 - - 32 0 0.00 17 11 39.29 C1orf145 0 genome.wustl.edu 37 1 228400554 228400554 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 228400554 228400554 C T SNP C1orf145 ENST00000337335 human ensembl 74_37 -1 known silent c.294 p.T98 0.000 NULL NULL - no_errors C1orf145 HGNC ENSG00000162913 tier1 - - 78 0 0.00 56 26 31.71 C1orf167 0 genome.wustl.edu 37 1 11826586 11826586 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 11826586 11826586 C T SNP C1orf167 ENST00000433342 human ensembl 74_37 +1 known missense c.1313 p.A438V 0.017 NULL NULL - no_errors C1orf167 HGNC ENSG00000215910 tier1 - - 25 0 0.00 9 10 52.63 C1orf185 0 genome.wustl.edu 37 1 51613179 51613179 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 51613179 51613179 A - DEL C1orf185 ENST00000371759 human ensembl 74_37 +1 known frame_shift_del c.336 p.N114fs 0.029 NULL NULL - no_errors C1orf185 HGNC ENSG00000204006 tier1 50 0 0.00 35 31 46.97 C1orf185 0 genome.wustl.edu 37 1 51613355 51613355 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 51613355 51613355 G T SNP C1orf185 ENST00000371759 human ensembl 74_37 +1 known missense c.512 p.G171V 0.002 NULL NULL - no_errors C1orf185 HGNC ENSG00000204006 tier1 - - 64 0 0.00 64 4 5.88 C1orf63 0 genome.wustl.edu 37 1 25571794 25571795 + Splice_Site INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 25571794 25571795 - A INS C1orf63 ENST00000417642 human ensembl 74_37 -1 known splice_site_ins c.500-3_500-2 e2-2 0.972:0.056 - - - no_errors C1orf63 HGNC ENSG00000117616 tier1 16 0 0.00 25 5 16.67 C1orf86 0 genome.wustl.edu 37 1 2116003 2116005 + RNA DEL CTC CTC - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 2116003 2116005 CTC - DEL C1orf86 ENST00000469733 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors C1orf86 HGNC ENSG00000162585 tier1 48 0 0.00 17 7 29.17 C20orf112 0 genome.wustl.edu 37 20 31041556 31041556 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 31041556 31041556 G - DEL C20orf112 ENST00000359676 human ensembl 74_37 -1 known frame_shift_del c.396 p.Y133fs 0.034 NULL NULL - no_errors C20orf112 HGNC ENSG00000197183 tier1 45 0 0.00 24 13 35.14 C20orf26 0 genome.wustl.edu 37 20 20147072 20147073 + Frame_Shift_Ins INS - - T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 20147072 20147073 - T INS C20orf26 ENST00000245957 human ensembl 74_37 +1 known frame_shift_ins c.1237_1238 p.S415fs 1.000:1.000 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 tier1 112 0 0.00 79 48 37.80 C21orf2 0 genome.wustl.edu 37 21 45758217 45758217 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 45758217 45758217 G A SNP C21orf2 ENST00000496321 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C21orf2 HGNC ENSG00000160226 tier1 - - 38 0 0.00 7 15 68.18 C2CD3 0 genome.wustl.edu 37 11 73804962 73804963 + Frame_Shift_Del DEL GA GA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 73804962 73804963 GA - DEL C2CD3 ENST00000334126 human ensembl 74_37 -1 known frame_shift_del c.3243_3242 p.L1081fs 0.812:1.000 smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 tier1 59 0 0.00 35 16 31.37 C2orf42 0 genome.wustl.edu 37 2 70392682 70392682 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 70392682 70392682 T 0 DEL C2orf42 ENST00000264434 human ensembl 74_37 -1 known frame_shift_del c.1230 p.K410fs 1.000 NULL NULL - no_errors C2orf42 HGNC ENSG00000115998 55 0 0.00 47 7 12.96 C2orf71 0 genome.wustl.edu 37 2 29294162 29294162 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 29294162 29294162 G - DEL C2orf71 ENST00000331664 human ensembl 74_37 -1 known frame_shift_del c.2966 p.P989fs 0.000 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 tier1 84 0 0.00 55 23 29.49 C3 0 genome.wustl.edu 37 19 6694571 6694571 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 6694571 6694571 C A SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.3025 p.G1009C 1.000 pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 tier1 - - 36 0 0.00 24 24 50.00 C3 0 genome.wustl.edu 37 19 6697481 6697481 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 6697481 6697481 G - DEL C3 ENST00000245907 human ensembl 74_37 -1 known frame_shift_del c.2670 p.K891fs 0.014 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 tier1 80 0 0.00 61 36 37.11 C3orf20 0 genome.wustl.edu 37 3 14770040 14770040 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 14770040 14770040 G T SNP C3orf20 ENST00000253697 human ensembl 74_37 +1 known missense c.1785 p.K595N 0.000 NULL NULL - no_errors C3orf20 HGNC ENSG00000131379 tier1 - - 91 0 0.00 68 4 5.56 C3orf65 0 genome.wustl.edu 37 3 185434550 185434550 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 185434550 185434550 G A SNP C3orf65 ENST00000296270 human ensembl 74_37 +1 known missense c.383 p.G128E 0.000 NULL NULL - no_errors C3orf65 HGNC ENSG00000163915 tier1 - - 67 0 0.00 31 13 29.55 C4BPB 0 genome.wustl.edu 37 1 207268778 207268778 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 207268778 207268778 C T SNP C4BPB ENST00000451804 human ensembl 74_37 +1 known silent c.522 p.S174 0.004 NULL pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors C4BPB HGNC ENSG00000123843 12 0 0.00 10 3 23.08 C4orf50 0 genome.wustl.edu 37 4 5982016 5982016 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 5982016 5982016 G A SNP C4orf50 ENST00000531445 human ensembl 74_37 -1 known missense c.1475 p.A492V 0.000 NULL NULL - no_errors C4orf50 HGNC ENSG00000181215 tier1 - - 55 0 0.00 36 20 35.71 C5AR1 0 genome.wustl.edu 37 19 47824042 47824042 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 47824042 47824042 G A SNP C5AR1 ENST00000355085 human ensembl 74_37 +1 known silent c.1008 p.T336 0.000 prints_Anaphtx_C5AR1/C5AR2 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C5AR1/C5AR2,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Brdyknn_rcpt,prints_Formyl_pep_rcpt - no_errors C5AR1 HGNC ENSG00000197405 tier1 rs142511245 - 31 0 0.00 9 9 50.00 C6orf141 0 genome.wustl.edu 37 6 49518517 49518517 + Silent SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 49518517 49518517 T C SNP C6orf141 ENST00000371194 human ensembl 74_37 +1 known silent c.12 p.P4 0.000 NULL NULL - no_errors C6orf141 HGNC ENSG00000197261 tier1 - - 77 0 0.00 43 27 38.57 C6orf165 0 genome.wustl.edu 37 6 88120371 88120371 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 88120371 88120371 G A SNP C6orf165 ENST00000369562 human ensembl 74_37 +1 known silent c.177 p.V59 0.995 NULL pfam_DUF3508 - no_errors C6ORF165 Uniprot_gn ENSG00000272514 tier1 - - 67 0 0.00 39 20 33.90 C7orf55-LUC7L2 0 genome.wustl.edu 37 7 139056191 139056191 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 139056191 139056191 G A SNP C7orf55-LUC7L2 ENST00000541170 human ensembl 74_37 +1 known missense c.34 p.G12R 1.000 pfam_Luc7-rel pfam_Luc7-rel - no_errors C7orf55-LUC7L2 HGNC ENSG00000146963 tier1 - - 55 0 0.00 29 24 45.28 C8A 0 genome.wustl.edu 37 1 57378168 57378168 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 57378168 57378168 G A SNP C8A ENST00000361249 human ensembl 74_37 +1 known silent c.1473 p.L491 0.996 smart_MACPF,prints_MAC_perforin pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C8A HGNC ENSG00000157131 tier1 rs148316319 - 49 0 0.00 27 25 48.08 C8orf31 0 genome.wustl.edu 37 8 144126186 144126186 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 144126186 144126186 C T SNP C8orf31 ENST00000395172 human ensembl 74_37 +1 known missense c.307 p.R103C 0.000 NULL NULL - no_errors C8orf31 HGNC ENSG00000177335 tier1 - - 37 0 0.00 19 12 38.71 C8orf47 0 genome.wustl.edu 37 8 99102178 99102178 + Silent SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 99102178 99102178 A G SNP C8orf47 ENST00000318528 human ensembl 74_37 +1 known silent c.933 p.P311 0.000 NULL NULL - no_errors C8orf47 HGNC ENSG00000177459 tier1 - - 27 0 0.00 36 13 26.53 C8orf58 0 genome.wustl.edu 37 8 22458526 22458526 + Nonsense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 22458526 22458526 G T SNP C8orf58 ENST00000289989 human ensembl 74_37 +1 known nonsense c.172 p.E58* 0.055 NULL NULL - no_errors C8orf58 HGNC ENSG00000241852 tier1 - - 102 0 0.00 96 33 25.58 C9orf16 0 genome.wustl.edu 37 9 130925726 130925726 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 130925726 130925726 C T SNP C9orf16 ENST00000372994 human ensembl 74_37 +1 known silent c.84 p.Y28 0.993 pfam_UPF0184 pfam_UPF0184 - no_errors C9orf16 HGNC ENSG00000171159 tier1 - - 47 0 0.00 27 20 42.55 C9orf78 0 genome.wustl.edu 37 9 132595850 132595850 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 132595850 132595850 T - DEL C9orf78 ENST00000461762 human ensembl 74_37 -1 known rna NULL NULL 0.032 - - - no_errors C9orf78 HGNC ENSG00000136819 tier1 60 0 0.00 33 25 43.10 C9orf96 0 genome.wustl.edu 37 9 136259328 136259328 + RNA DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 136259328 136259328 G - DEL C9orf96 ENST00000462310 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors C9orf96 HGNC ENSG00000198870 tier1 66 0 0.00 33 14 29.79 CA10 0 genome.wustl.edu 37 17 50008356 50008357 + Frame_Shift_Ins INS - - C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 50008356 50008357 - C INS CA10 ENST00000340813 human ensembl 74_37 -1 known frame_shift_ins c.291_290 p.R98fs 0.994:1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA10 HGNC ENSG00000154975 tier1 62 0 0.00 27 28 50.91 CA5BP1 0 genome.wustl.edu 37 X 15721077 15721077 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 15721077 15721077 G A SNP CA5BP1 ENST00000380333 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CA5BP1 HGNC ENSG00000186312 tier1 - - 31 0 0.00 2 30 93.75 CACNA1E 0 genome.wustl.edu 37 1 181687262 181687262 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 181687262 181687262 C T SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.1597 p.R533C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 tier1 - - 67 0 0.00 99 12 10.81 CACNA1E 0 genome.wustl.edu 37 1 181726119 181726119 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 181726119 181726119 C T SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.4186 p.R1396C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 tier1 - - 99 0 0.00 73 33 31.13 CACNA1F 0 genome.wustl.edu 37 X 49087004 49087004 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 49087004 49087004 G A SNP CACNA1F ENST00000376265 human ensembl 74_37 -1 known missense c.589 p.P197S 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 tier1 - - 37 0 0.00 3 29 90.62 CACNA1H 0 genome.wustl.edu 37 16 1245456 1245456 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 1245456 1245456 T - DEL CACNA1H ENST00000348261 human ensembl 74_37 +1 known frame_shift_del c.436 p.F147fs 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 tier1 98 0 0.00 51 33 39.29 CACNA1S 0 genome.wustl.edu 37 1 201052298 201052298 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 201052298 201052298 C T SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known missense c.1385 p.R462H 0.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 tier1 rs146696298 - 48 0 0.00 37 13 26.00 CACNA2D4 0 genome.wustl.edu 37 12 2019083 2019083 + Nonsense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 2019083 2019083 C A SNP CACNA2D4 ENST00000382722 human ensembl 74_37 -1 known nonsense c.475 p.E159* 0.025 pfam_VWA_N pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D4 HGNC ENSG00000151062 tier1 - - 30 0 0.00 44 8 15.38 CACNG5 0 genome.wustl.edu 37 17 64873530 64873530 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 64873530 64873530 C T SNP CACNG5 ENST00000169565 human ensembl 74_37 +1 known missense c.80 p.A27V 0.997 pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su - no_errors CACNG5 HGNC ENSG00000075429 tier1 - - 72 0 0.00 37 25 40.32 CACNG5 0 genome.wustl.edu 37 17 64873628 64873628 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 64873628 64873628 C T SNP CACNG5 ENST00000169565 human ensembl 74_37 +1 known missense c.178 p.R60W 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su - no_errors CACNG5 HGNC ENSG00000075429 tier1 rs141219015 - 43 0 0.00 25 16 39.02 CACNG5 0 genome.wustl.edu 37 17 64881306 64881306 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 64881306 64881306 C T SNP CACNG5 ENST00000307139 human ensembl 74_37 +1 known silent c.777 p.P259 0.066 NULL pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su - no_errors CACNG5 HGNC ENSG00000075429 tier1 - - 52 0 0.00 24 13 35.14 CAD 0 genome.wustl.edu 37 2 27457496 27457496 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 27457496 27457496 G 0 DEL CAD ENST00000264705 human ensembl 74_37 +1 known frame_shift_del c.3729 p.E1245fs 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,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_dom,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 ENSG00000084774 78 0 0.00 87 7 7.45 CALD1 0 genome.wustl.edu 37 7 134653474 134653475 + RNA INS - - T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 134653474 134653475 - T INS CALD1 ENST00000466704 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.008 - - - no_errors CALD1 HGNC ENSG00000122786 tier1 35 0 0.00 20 7 25.93 CAMKK2 0 genome.wustl.edu 37 12 121678328 121678330 + In_Frame_Del DEL TTT TTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 121678328 121678330 TTT - DEL CAMKK2 ENST00000392474 human ensembl 74_37 -1 known in_frame_del c.1614_1612 p.K538in_frame_del 0.000:0.000:0.002 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMKK2 HGNC ENSG00000110931 tier1 55 0 0.00 16 16 50.00 CAMKK2 0 genome.wustl.edu 37 12 121712281 121712281 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 121712281 121712281 G - DEL CAMKK2 ENST00000324774 human ensembl 74_37 -1 known frame_shift_del c.49 p.Q17fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMKK2 HGNC ENSG00000110931 tier1 54 0 0.00 28 20 41.67 CAMSAP1 0 genome.wustl.edu 37 9 138715799 138715800 + Frame_Shift_Ins INS - - T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 138715799 138715800 - T INS CAMSAP1 ENST00000409386 human ensembl 74_37 -1 known frame_shift_ins c.1430_1429 p.T477fs 0.022:0.003 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 tier1 42 0 0.00 28 2 6.67 CAMSAP2 0 genome.wustl.edu 37 1 200822549 200822549 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 200822549 200822549 A - DEL CAMSAP2 ENST00000236925 human ensembl 74_37 +1 known frame_shift_del c.3782 p.K1263fs 0.945 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 tier1 26 0 0.00 24 5 17.24 CAMSAP3 0 genome.wustl.edu 37 19 7670318 7670318 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 7670318 7670318 G A SNP CAMSAP3 ENST00000446248 human ensembl 74_37 +1 known missense c.355 p.E119K 0.889 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 tier1 - - 29 0 0.00 8 6 42.86 CAMTA1 0 genome.wustl.edu 37 1 7723499 7723499 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 7723499 7723499 G A SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known missense c.892 p.G298R 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 tier1 - - 111 0 0.00 52 30 36.59 CAPG 0 genome.wustl.edu 37 2 85622671 85622671 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 85622671 85622671 G - DEL CAPG ENST00000263867 human ensembl 74_37 -1 known frame_shift_del c.971 p.P324fs 0.057 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors CAPG HGNC ENSG00000042493 tier1 41 0 0.00 21 18 46.15 CAPG 0 genome.wustl.edu 37 2 85622675 85622675 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 85622675 85622675 C T SNP CAPG ENST00000263867 human ensembl 74_37 -1 known missense c.967 p.A323T 0.933 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors CAPG HGNC ENSG00000042493 tier1 - - 38 0 0.00 22 15 40.54 CAPN11 0 genome.wustl.edu 37 6 44145101 44145101 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 44145101 44145101 C T SNP CAPN11 ENST00000398776 human ensembl 74_37 +1 known missense c.1360 p.R454W 0.635 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN11 HGNC ENSG00000137225 tier1 rs201179894 - 32 0 0.00 21 21 50.00 CAPN6 0 genome.wustl.edu 37 X 110495579 110495579 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 110495579 110495579 A G SNP CAPN6 ENST00000324068 human ensembl 74_37 -1 known missense c.655 p.Y219H 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN6 HGNC ENSG00000077274 tier1 - - 38 0 0.00 8 26 76.47 CAPZA2 0 genome.wustl.edu 37 7 116520180 116520180 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 116520180 116520180 T - DEL CAPZA2 ENST00000449080 human ensembl 74_37 +1 known frame_shift_del c.99 p.L36fs 0.021 NULL NULL - no_errors CAPZA2 HGNC ENSG00000198898 tier1 20 0 0.00 23 7 23.33 CARD8 0 genome.wustl.edu 37 19 48685631 48685633 + RNA DEL AAA AAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 48685631 48685633 AAA - DEL CARD8 ENST00000600800 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.001 - - - no_errors CARD8 HGNC ENSG00000105483 tier1 14 0 0.00 11 10 47.62 CARD9 0 genome.wustl.edu 37 9 139264771 139264771 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 139264771 139264771 C T SNP CARD9 ENST00000371732 human ensembl 74_37 -1 known missense c.926 p.R309H 0.997 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD9 HGNC ENSG00000187796 tier1 - - 51 0 0.00 18 16 47.06 CARKD 0 genome.wustl.edu 37 13 111277612 111277612 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 111277612 111277612 G A SNP CARKD ENST00000309957 human ensembl 74_37 +1 known missense c.373 p.V125I 1.000 pfam_YjeF_C_carb_kinase-rel,tigrfam_YjeF_C_carb_kinase-rel pfam_YjeF_C_carb_kinase-rel,tigrfam_YjeF_C_carb_kinase-rel - no_errors CARKD HGNC ENSG00000213995 tier1 rs147657999 - 36 0 0.00 16 25 60.98 CARM1 0 genome.wustl.edu 37 19 11032065 11032065 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 11032065 11032065 G A SNP CARM1 ENST00000327064 human ensembl 74_37 +1 known missense c.1630 p.V544I 1.000 NULL pfam_Histone-Arg_MeTrfase_N,pfam_Arg_MeTrfase,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11 - no_errors CARM1 HGNC ENSG00000142453 tier1 - - 84 0 0.00 49 4 7.55 CARNS1 0 genome.wustl.edu 37 11 67185908 67185908 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 67185908 67185908 C A SNP CARNS1 ENST00000445895 human ensembl 74_37 +1 known missense c.281 p.P94H 1.000 superfamily_TIL_dom superfamily_PreATP-grasp_dom,superfamily_TIL_dom,pfscan_ATP-grasp - no_errors CARNS1 HGNC ENSG00000172508 tier1 - - 109 0 0.00 65 41 38.68 CASP16 0 genome.wustl.edu 37 16 3194815 3194815 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 3194815 3194815 G A SNP CASP16 ENST00000571356 human ensembl 74_37 +1 known rna NULL NULL 0.958 - - - no_errors CASP16 HGNC ENSG00000228146 tier1 - - 54 0 0.00 40 25 38.46 CASP5 0 genome.wustl.edu 37 11 104868169 104868169 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 104868169 104868169 G T SNP CASP5 ENST00000393141 human ensembl 74_37 -1 known missense c.1186 p.L396I 0.416 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_p10 pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP5 HGNC ENSG00000137757 tier1 - - 70 0 0.00 88 5 5.38 CASZ1 0 genome.wustl.edu 37 1 10715751 10715751 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 10715751 10715751 G A SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known silent c.1620 p.H540 0.982 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 tier1 - - 69 0 0.00 36 18 33.33 CATSPER1 0 genome.wustl.edu 37 11 65793344 65793344 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 65793344 65793344 G A SNP CATSPER1 ENST00000312106 human ensembl 74_37 -1 known silent c.507 p.H169 0.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER1 HGNC ENSG00000175294 tier1 - - 59 0 0.00 28 16 36.36 CBLC 0 genome.wustl.edu 37 19 45295733 45295733 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 45295733 45295733 G A SNP CBLC ENST00000270279 human ensembl 74_37 +1 known missense c.1099 p.G367R 0.996 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING - no_errors CBLC HGNC ENSG00000142273 tier1 - - 41 0 0.00 16 12 42.86 CBR3-AS1 0 genome.wustl.edu 37 21 37504209 37504210 + RNA INS - - AAAT TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 37504209 37504210 0 AAAT INS CBR3-AS1 ENST00000413862 human ensembl 74_37 -1 known rna NULL NULL 0.997:0.993 - - - no_errors CBR3-AS1 HGNC ENSG00000236830 10 0 0.00 6 2 25.00 CBWD6 0 genome.wustl.edu 37 9 69218744 69218744 + RNA SNP T T A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 69218744 69218744 T A SNP CBWD6 ENST00000477430 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors CBWD6 HGNC ENSG00000204790 tier1 - - 30 0 0.00 66 10 13.16 CBWD6 0 genome.wustl.edu 37 9 69218755 69218755 + RNA SNP A A T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 69218755 69218755 A T SNP CBWD6 ENST00000477430 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CBWD6 HGNC ENSG00000204790 tier1 - - 33 0 0.00 65 10 13.33 CBWD6 0 genome.wustl.edu 37 9 69218762 69218762 + RNA SNP A A C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 69218762 69218762 A C SNP CBWD6 ENST00000477430 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CBWD6 HGNC ENSG00000204790 tier1 - - 33 0 0.00 58 17 22.67 CBWD6 0 genome.wustl.edu 37 9 69218763 69218763 + RNA SNP A A C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 69218763 69218763 A C SNP CBWD6 ENST00000477430 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors CBWD6 HGNC ENSG00000204790 tier1 - - 33 0 0.00 50 25 33.33 CBX6 0 genome.wustl.edu 37 22 39263028 39263028 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 39263028 39263028 C - DEL CBX6 ENST00000407418 human ensembl 74_37 -1 known frame_shift_del c.425 p.G142fs 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX6 HGNC ENSG00000183741 tier1 33 0 0.00 16 10 38.46 CBX8 0 genome.wustl.edu 37 17 77768661 77768662 + Frame_Shift_Ins INS - - G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 77768661 77768662 - G INS CBX8 ENST00000269385 human ensembl 74_37 -1 known frame_shift_ins c.943_942 p.S314fs 0.052:0.011 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CBX8 HGNC ENSG00000141570 tier1 22 0 0.00 9 2 18.18 CBX8 0 genome.wustl.edu 37 17 77768912 77768912 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 77768912 77768912 A G SNP CBX8 ENST00000269385 human ensembl 74_37 -1 known missense c.692 p.L231P 0.990 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CBX8 HGNC ENSG00000141570 tier1 - - 47 0 0.00 17 14 45.16 CCDC105 0 genome.wustl.edu 37 19 15122081 15122081 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 15122081 15122081 C T SNP CCDC105 ENST00000292574 human ensembl 74_37 +1 known silent c.444 p.N148 0.046 pfam_Tektin pfam_Tektin - no_errors CCDC105 HGNC ENSG00000160994 17 0 0.00 17 5 22.73 CCDC13 0 genome.wustl.edu 37 3 42799707 42799707 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 42799707 42799707 G T SNP CCDC13 ENST00000310232 human ensembl 74_37 -1 known missense c.131 p.A44D 0.000 NULL superfamily_Prefoldin - no_errors CCDC13 HGNC ENSG00000244607 tier1 - - 147 0 0.00 117 7 5.65 CCDC136 0 genome.wustl.edu 37 7 128455793 128455794 + Frame_Shift_Del DEL GT GT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 128455793 128455794 GT - DEL CCDC136 ENST00000297788 human ensembl 74_37 +1 known frame_shift_del c.3171_3172 p.C1058fs 0.000:0.000 NULL NULL - no_errors CCDC136 HGNC ENSG00000128596 tier1 45 0 0.00 27 13 32.50 CCDC142 0 genome.wustl.edu 37 2 74709916 74709916 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 74709916 74709916 G A SNP CCDC142 ENST00000393965 human ensembl 74_37 -1 known missense c.49 p.P17S 0.001 NULL NULL - no_errors CCDC142 HGNC ENSG00000135637 tier1 - - 36 0 0.00 17 11 39.29 CCDC144B 0 genome.wustl.edu 37 17 18528581 18528581 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 18528581 18528581 G A SNP CCDC144B ENST00000450277 human ensembl 74_37 -1 known rna NULL NULL 0.052 - - - no_errors CCDC144B HGNC ENSG00000154874 tier1 - - 73 0 0.00 30 24 44.44 CCDC150 0 genome.wustl.edu 37 2 197584490 197584491 + RNA DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 197584490 197584491 AA - DEL CCDC150 ENST00000461825 human ensembl 74_37 +1 putative rna NULL NULL 0.000:0.000 - - - no_errors CCDC150 HGNC ENSG00000144395 tier1 27 0 0.00 16 26 61.90 CCDC169 0 genome.wustl.edu 37 13 36857616 36857616 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 36857616 36857616 C T SNP CCDC169 ENST00000239859 human ensembl 74_37 -1 known missense c.305 p.R102Q 0.002 NULL NULL - no_errors CCDC169 HGNC ENSG00000242715 tier1 - - 67 0 0.00 86 12 12.24 CCDC19 0 genome.wustl.edu 37 1 159863013 159863013 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 159863013 159863013 G A SNP CCDC19 ENST00000368099 human ensembl 74_37 -1 known missense c.86 p.A29V 0.988 NULL NULL - no_errors CCDC19 HGNC ENSG00000213085 tier1 - - 69 0 0.00 70 38 35.19 CCDC3 0 genome.wustl.edu 37 10 12940451 12940451 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 12940451 12940451 G A SNP CCDC3 ENST00000378825 human ensembl 74_37 -1 known missense c.778 p.R260W 0.615 NULL NULL - no_errors CCDC3 HGNC ENSG00000151468 12 0 0.00 8 4 33.33 CCDC30 0 genome.wustl.edu 37 1 42948563 42948564 + RNA DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 42948563 42948564 AA - DEL CCDC30 ENST00000475614 human ensembl 74_37 +1 known rna NULL NULL 0.003:0.003 - - - no_errors CCDC30 HGNC ENSG00000186409 tier1 30 0 0.00 7 17 70.83 CCDC33 0 genome.wustl.edu 37 15 74573101 74573101 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 74573101 74573101 A - DEL CCDC33 ENST00000321288 human ensembl 74_37 +1 known frame_shift_del c.1591 p.G532fs 0.120 NULL pfam_C2_dom,superfamily_C2_dom - no_errors CCDC33 HGNC ENSG00000140481 tier1 61 0 0.00 46 17 26.98 CCDC33 0 genome.wustl.edu 37 15 74627334 74627334 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 74627334 74627334 C T SNP CCDC33 ENST00000321288 human ensembl 74_37 +1 known missense c.2755 p.R919C 0.993 NULL pfam_C2_dom,superfamily_C2_dom - no_errors CCDC33 HGNC ENSG00000140481 tier1 - - 76 0 0.00 39 19 32.76 CCDC40 0 genome.wustl.edu 37 17 78055751 78055751 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 78055751 78055751 C T SNP CCDC40 ENST00000397545 human ensembl 74_37 +1 known missense c.1883 p.T628M 0.003 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 tier1 - - 27 0 0.00 16 15 48.39 CCDC43 0 genome.wustl.edu 37 17 42756253 42756253 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 42756253 42756253 T - DEL CCDC43 ENST00000315286 human ensembl 74_37 -1 known frame_shift_del c.646 p.R216fs 1.000 NULL NULL - no_errors CCDC43 HGNC ENSG00000180329 tier1 83 0 0.00 49 16 24.62 CCDC43 0 genome.wustl.edu 37 17 42756261 42756261 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 42756261 42756261 T C SNP CCDC43 ENST00000315286 human ensembl 74_37 -1 known missense c.638 p.E213G 1.000 NULL NULL - no_errors CCDC43 HGNC ENSG00000180329 83 0 0.00 59 6 9.23 CCDC57 0 genome.wustl.edu 37 17 80121090 80121090 + Nonsense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 80121090 80121090 G A SNP CCDC57 ENST00000389641 human ensembl 74_37 -1 known nonsense c.2026 p.R676* 0.000 NULL NULL - no_errors CCDC57 HGNC ENSG00000176155 tier1 rs201336748 - 55 0 0.00 24 14 36.84 CCDC63 0 genome.wustl.edu 37 12 111321964 111321964 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 111321964 111321964 C T SNP CCDC63 ENST00000308208 human ensembl 74_37 +1 known silent c.984 p.A328 1.000 NULL NULL - no_errors CCDC63 HGNC ENSG00000173093 tier1 - - 75 0 0.00 51 37 42.05 CCDC77 0 genome.wustl.edu 37 12 521005 521005 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 521005 521005 C - DEL CCDC77 ENST00000239830 human ensembl 74_37 +1 known frame_shift_del c.131 p.E46fs 1.000 NULL NULL - no_errors CCDC77 HGNC ENSG00000120647 tier1 23 0 0.00 22 26 54.17 CCDC96 0 genome.wustl.edu 37 4 7043578 7043578 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 7043578 7043578 G A SNP CCDC96 ENST00000310085 human ensembl 74_37 -1 known missense c.1088 p.A363V 0.842 NULL NULL - no_errors CCDC96 HGNC ENSG00000173013 tier1 - - 23 0 0.00 9 8 47.06 CCER1 0 genome.wustl.edu 37 12 91348110 91348110 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 91348110 91348110 G 0 DEL CCER1 ENST00000358859 human ensembl 74_37 -1 known frame_shift_del c.410 p.P137fs 0.002 NULL NULL - no_errors CCER1 HGNC ENSG00000197651 16 0 0.00 16 5 23.81 CCL14 0 genome.wustl.edu 37 17 34312816 34312816 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 34312816 34312816 G T SNP CCL14 ENST00000435911 human ensembl 74_37 -1 known missense c.95 p.P32Q 0.000 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL14 HGNC ENSG00000213494 tier1 - - 65 0 0.00 54 5 8.47 CCNF 0 genome.wustl.edu 37 16 2499297 2499297 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 2499297 2499297 G T SNP CCNF ENST00000397066 human ensembl 74_37 +1 known silent c.1233 p.V411 0.949 pfam_Cyclin_C-dom,superfamily_Cyclin-like pfam_Cyclin_N,pfam_Cyclin_C-dom,pfam_F-box_dom,superfamily_Cyclin-like,superfamily_F-box_dom,smart_F-box_dom,smart_Cyclin-like,pfscan_F-box_dom - no_errors CCNF HGNC ENSG00000162063 tier1 - - 15 0 0.00 16 4 20.00 CCNF 0 genome.wustl.edu 37 16 2499426 2499426 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 2499426 2499426 C T SNP CCNF ENST00000397066 human ensembl 74_37 +1 known silent c.1362 p.A454 0.004 pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,pfam_Cyclin_C-dom,pfam_F-box_dom,superfamily_Cyclin-like,superfamily_F-box_dom,smart_F-box_dom,smart_Cyclin-like,pfscan_F-box_dom - no_errors CCNF HGNC ENSG00000162063 13 0 0.00 9 3 25.00 CCNL1 0 genome.wustl.edu 37 3 156866204 156866204 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 156866204 156866204 T - DEL CCNL1 ENST00000295926 human ensembl 74_37 -1 known frame_shift_del c.1407 p.K469fs 0.503 pirsf_Cyclin_L pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L - no_errors CCNL1 HGNC ENSG00000163660 tier1 122 0 0.00 66 35 34.65 CCNYL2 0 genome.wustl.edu 37 10 42928728 42928728 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 42928728 42928728 C T SNP CCNYL2 ENST00000483242 human ensembl 74_37 -1 known rna NULL NULL 0.977 - - - no_errors CCNYL2 HGNC ENSG00000182632 tier1 - - 175 0 0.00 120 59 32.96 CCSAP 0 genome.wustl.edu 37 1 229460198 229460198 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 229460198 229460198 A - DEL CCSAP ENST00000483092 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CCSAP HGNC ENSG00000154429 tier1 28 0 0.00 39 14 26.42 CCSAP 0 genome.wustl.edu 37 1 229460857 229460857 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 229460857 229460857 A - DEL CCSAP ENST00000483092 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CCSAP HGNC ENSG00000154429 tier1 34 0 0.00 43 21 32.81 CCSER1 0 genome.wustl.edu 37 4 91389480 91389480 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 91389480 91389480 C T SNP CCSER1 ENST00000333691 human ensembl 74_37 +1 known missense c.1699 p.P567S 0.263 NULL NULL - no_errors CCSER1 HGNC ENSG00000184305 tier1 - - 61 0 0.00 43 38 46.91 CCSER2 0 genome.wustl.edu 37 10 86133433 86133433 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 86133433 86133433 C A SNP CCSER2 ENST00000372088 human ensembl 74_37 +1 known missense c.1476 p.D492E 1.000 NULL NULL - no_errors CCSER2 HGNC ENSG00000107771 tier1 - - 52 0 0.00 44 21 32.31 CD109 0 genome.wustl.edu 37 6 74495145 74495145 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 74495145 74495145 G T SNP CD109 ENST00000287097 human ensembl 74_37 +1 known missense c.2282 p.G761V 1.000 pfam_Macroglobln_a2 pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 tier1 - - 49 0 0.00 50 6 10.71 CD160 0 genome.wustl.edu 37 1 145704302 145704302 + Nonsense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 145704302 145704302 G A SNP CD160 ENST00000235933 human ensembl 74_37 -1 known nonsense c.115 p.R39* 0.000 NULL NULL - no_errors CD160 HGNC ENSG00000117281 tier1 rs149851492 - 58 0 0.00 32 15 31.91 CD28 0 genome.wustl.edu 37 2 204571260 204571260 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 204571260 204571260 T C SNP CD28 ENST00000458610 human ensembl 74_37 +1 putative missense c.14 p.L5S 0.998 NULL pfam_Ig_V-set,smart_Ig_V-set_subgr,prints_CD28 - no_errors CD28 HGNC ENSG00000178562 tier1 - - 184 0 0.00 92 71 43.56 CD300C 0 genome.wustl.edu 37 17 72539041 72539041 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 72539041 72539041 G A SNP CD300C ENST00000330793 human ensembl 74_37 -1 known silent c.486 p.S162 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300C HGNC ENSG00000167850 tier1 - - 64 0 0.00 37 15 28.85 CD36 0 genome.wustl.edu 37 7 80286011 80286011 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 80286011 80286011 G A SNP CD36 ENST00000309881 human ensembl 74_37 +1 known silent c.276 p.T92 0.004 pfam_CD36,prints_CD36 pfam_CD36,prints_CD36_antigen,prints_CD36 - no_errors CD36 HGNC ENSG00000135218 tier1 - - 26 0 0.00 10 11 52.38 CD3EAP 0 genome.wustl.edu 37 19 45911872 45911872 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 45911872 45911872 A - DEL CD3EAP ENST00000589804 human ensembl 74_37 +1 known frame_shift_del c.652 p.N220fs 0.178 pfam_DNA-dir_RNA_pol1_su_RPA34 pfam_DNA-dir_RNA_pol1_su_RPA34 - no_errors CD3EAP HGNC ENSG00000117877 tier1 50 0 0.00 13 7 35.00 CD3G 0 genome.wustl.edu 37 11 118220583 118220583 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 118220583 118220583 A - DEL CD3G ENST00000532917 human ensembl 74_37 +1 known frame_shift_del c.205 p.K71fs 0.000 smart_Ig_sub2 pfam_Phos_immunorcpt_sig_ITAM,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM - no_errors CD3G HGNC ENSG00000160654 tier1 40 0 0.00 33 16 32.65 CD46 0 genome.wustl.edu 37 1 207930454 207930454 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 207930454 207930454 A - DEL CD46 ENST00000322875 human ensembl 74_37 +1 known frame_shift_del c.193 p.G67fs 0.001 pirsf_M_CF_CD46,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pirsf_M_CF_CD46,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CD46 HGNC ENSG00000117335 tier1 70 0 0.00 99 22 18.18 CD46 0 genome.wustl.edu 37 1 207934699 207934699 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 207934699 207934699 C T SNP CD46 ENST00000322875 human ensembl 74_37 +1 known missense c.581 p.A194V 0.000 pirsf_M_CF_CD46,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pirsf_M_CF_CD46,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CD46 HGNC ENSG00000117335 tier1 - - 98 0 0.00 105 49 31.82 CD47 0 genome.wustl.edu 37 3 107762206 107762206 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 107762206 107762206 T - DEL CD47 ENST00000471694 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors CD47 HGNC ENSG00000196776 tier1 21 0 0.00 26 7 21.21 CD5L 0 genome.wustl.edu 37 1 157805866 157805866 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 157805866 157805866 C A SNP CD5L ENST00000368174 human ensembl 74_37 -1 known missense c.135 p.W45C 1.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD5L HGNC ENSG00000073754 tier1 - - 41 0 0.00 35 16 31.37 CD72 0 genome.wustl.edu 37 9 35610103 35610103 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 35610103 35610103 C T SNP CD72 ENST00000490239 human ensembl 74_37 -1 known rna NULL NULL 0.191 - - - no_errors CD72 HGNC ENSG00000137101 tier1 - - 51 0 0.00 21 23 52.27 CD79A 0 genome.wustl.edu 37 19 42383610 42383610 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 42383610 42383610 C - DEL CD79A ENST00000221972 human ensembl 74_37 +1 known frame_shift_del c.385 p.R131fs 0.007 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Phos_immunorcpt_sig_ITAM,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM,pfscan_Ig-like_dom - no_errors CD79A HGNC ENSG00000105369 tier1 35 0 0.00 24 10 29.41 CD9 0 genome.wustl.edu 37 12 6347089 6347089 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 6347089 6347089 T - DEL CD9 ENST00000481267 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors CD9 HGNC ENSG00000010278 tier1 9 0 0.00 14 15 51.72 CD93 0 genome.wustl.edu 37 20 23065105 23065105 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 23065105 23065105 G T SNP CD93 ENST00000246006 human ensembl 74_37 -1 known silent c.1725 p.G575 0.263 NULL pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 tier1 - - 78 0 0.00 44 19 30.16 CDC123 0 genome.wustl.edu 37 10 12292343 12292343 + RNA SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 12292343 12292343 T C SNP CDC123 ENST00000498747 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CDC123 HGNC ENSG00000151465 tier1 - - 43 0 0.00 38 15 28.30 CDC14A 0 genome.wustl.edu 37 1 100889837 100889837 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 100889837 100889837 C - DEL CDC14A ENST00000361544 human ensembl 74_37 +1 known frame_shift_del c.369 p.Y126fs 0.021 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14A HGNC ENSG00000079335 tier1 97 0 0.00 56 31 35.63 CDC16 0 genome.wustl.edu 37 13 115012591 115012591 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 115012591 115012591 T - DEL CDC16 ENST00000494581 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors CDC16 HGNC ENSG00000130177 tier1 22 0 0.00 16 12 42.86 CDC42BPA 0 genome.wustl.edu 37 1 227219077 227219077 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 227219077 227219077 G A SNP CDC42BPA ENST00000334218 human ensembl 74_37 -1 known missense c.3592 p.R1198C 1.000 NULL pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPA HGNC ENSG00000143776 tier1 - - 31 0 0.00 38 10 20.83 CDC42BPA 0 genome.wustl.edu 37 1 227288919 227288919 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 227288919 227288919 G T SNP CDC42BPA ENST00000334218 human ensembl 74_37 -1 known missense c.2023 p.P675T 1.000 NULL pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPA HGNC ENSG00000143776 tier1 - - 58 0 0.00 71 6 7.79 CDC45 0 genome.wustl.edu 37 22 19496067 19496067 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 19496067 19496067 G A SNP CDC45 ENST00000437685 human ensembl 74_37 +1 known missense c.1166 p.R389H 1.000 pfam_CDC45 pfam_CDC45 - no_errors CDC45 HGNC ENSG00000093009 tier1 - - 78 0 0.00 51 23 30.67 CDC7 0 genome.wustl.edu 37 1 91967300 91967300 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 91967300 91967300 G T SNP CDC7 ENST00000234626 human ensembl 74_37 +1 known missense c.27 p.M9I 0.981 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDC7 HGNC ENSG00000097046 tier1 - - 50 0 0.00 46 4 7.84 CDC7 0 genome.wustl.edu 37 1 91978780 91978780 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 91978780 91978780 G T SNP CDC7 ENST00000234626 human ensembl 74_37 +1 known silent c.738 p.L246 0.004 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDC7 HGNC ENSG00000097046 26 0 0.00 31 4 11.43 CDCP2 0 genome.wustl.edu 37 1 54606938 54606938 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 54606938 54606938 G A SNP CDCP2 ENST00000371330 human ensembl 74_37 -1 novel missense c.596 p.T199I 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom - no_errors CDCP2 HGNC ENSG00000157211 tier1 - - 32 0 0.00 23 14 37.84 CDH18 0 genome.wustl.edu 37 5 19543993 19543993 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 19543993 19543993 T C SNP CDH18 ENST00000274170 human ensembl 74_37 -1 known missense c.1375 p.T459A 0.987 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 tier1 - - 75 0 0.00 118 38 24.36 CDH20 0 genome.wustl.edu 37 18 59166500 59166500 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 59166500 59166500 G A SNP CDH20 ENST00000262717 human ensembl 74_37 +1 known missense c.328 p.D110N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC ENSG00000101542 tier1 - - 51 0 0.00 30 19 38.78 CDHR2 0 genome.wustl.edu 37 5 176008500 176008500 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 176008500 176008500 G A SNP CDHR2 ENST00000261944 human ensembl 74_37 +1 known missense c.1975 p.G659S 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 tier1 - - 96 0 0.00 53 39 42.39 CDHR3 0 genome.wustl.edu 37 7 105664829 105664829 + Nonsense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 105664829 105664829 C T SNP CDHR3 ENST00000343407 human ensembl 74_37 +1 known nonsense c.586 p.Q196* 1.000 NULL superfamily_Cadherin-like,pfscan_Cadherin - no_errors CDHR3 HGNC ENSG00000128536 tier1 - - 107 0 0.00 84 30 26.32 CDK12 0 genome.wustl.edu 37 17 37650845 37650845 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 37650845 37650845 C T SNP CDK12 ENST00000447079 human ensembl 74_37 +1 known missense c.2317 p.R773C 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK12 HGNC ENSG00000167258 tier1 - - 42 0 0.00 23 15 39.47 CDK18 0 genome.wustl.edu 37 1 205501330 205501330 + RNA SNP T T G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 205501330 205501330 T G SNP CDK18 ENST00000509056 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CDK18 HGNC ENSG00000117266 tier1 - - 37 0 0.00 35 10 22.22 CDK5RAP2 0 genome.wustl.edu 37 9 123223027 123223028 + Splice_Site DEL TT TT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 123223027 123223028 TT - DEL CDK5RAP2 ENST00000480112 human ensembl 74_37 -1 known splice_site_del c.2104-3_2104-2 e19-2 0.979:0.982 - - - no_errors CDK5RAP2 HGNC ENSG00000136861 tier1 50 0 0.00 26 9 25.71 CDKAL1 0 genome.wustl.edu 37 6 20955679 20955679 + Nonsense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 20955679 20955679 G T SNP CDKAL1 ENST00000274695 human ensembl 74_37 +1 known nonsense c.772 p.E258* 1.000 pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase pfam_Methylthiotransferase_N,pfam_rSAM,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase - no_errors CDKAL1 HGNC ENSG00000145996 tier1 - - 59 0 0.00 68 4 5.56 CDR2L 0 genome.wustl.edu 37 17 72999572 72999572 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 72999572 72999572 G A SNP CDR2L ENST00000337231 human ensembl 74_37 +1 known silent c.801 p.P267 0.892 NULL NULL - no_errors CDR2L HGNC ENSG00000109089 tier1 - - 60 0 0.00 31 23 42.59 CDS2 0 genome.wustl.edu 37 20 5170988 5170991 + RNA DEL TTTT TTTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTTT TTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 5170988 5170991 TTTT - DEL CDS2 ENST00000379070 human ensembl 74_37 +1 known rna NULL NULL 0.003:0.004:0.004:0.002 - - - no_errors CDS2 HGNC ENSG00000101290 tier1 66 0 0.00 39 20 33.90 CDX2 0 genome.wustl.edu 37 13 28539139 28539139 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 28539139 28539139 C T SNP CDX2 ENST00000381020 human ensembl 74_37 -1 known silent c.555 p.T185 0.998 superfamily_Homeodomain-like,pfscan_Homeobox_dom pfam_Caudal_activation_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors CDX2 HGNC ENSG00000165556 tier1 - - 84 0 0.00 54 52 49.06 CEACAM18 0 genome.wustl.edu 37 19 51981849 51981849 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 51981849 51981849 G A SNP CEACAM18 ENST00000451626 human ensembl 74_37 +1 known missense c.136 p.A46T 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM18 HGNC ENSG00000213822 tier1 - - 64 0 0.00 28 19 40.43 CECR2 0 genome.wustl.edu 37 22 18028458 18028458 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 18028458 18028458 A G SNP CECR2 ENST00000400573 human ensembl 74_37 +1 novel missense c.3415 p.R1139G 0.017 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 tier1 - - 35 0 0.00 24 9 27.27 CECR6 0 genome.wustl.edu 37 22 17600401 17600401 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 17600401 17600401 G A SNP CECR6 ENST00000331437 human ensembl 74_37 -1 known silent c.1617 p.S539 0.000 NULL NULL - no_errors CECR6 HGNC ENSG00000183307 tier1 - - 36 0 0.00 21 16 43.24 CELF2 0 genome.wustl.edu 37 10 11207539 11207539 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 11207539 11207539 C T SNP CELF2 ENST00000450189 human ensembl 74_37 +1 known silent c.165 p.P55 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors CELF2 HGNC ENSG00000048740 tier1 - - 54 0 0.00 25 13 34.21 CELF2 0 genome.wustl.edu 37 10 11291153 11291153 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 11291153 11291153 A - DEL CELF2 ENST00000450189 human ensembl 74_37 +1 known frame_shift_del c.392 p.K132fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors CELF2 HGNC ENSG00000048740 tier1 57 0 0.00 31 19 38.00 CELP 0 genome.wustl.edu 37 9 135962433 135962433 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 135962433 135962433 G A SNP CELP ENST00000411440 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CELP HGNC ENSG00000170827 tier1 - - 24 0 0.00 15 7 31.82 CELSR2 0 genome.wustl.edu 37 1 109812405 109812405 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 109812405 109812405 C T SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.7070 p.T2357M 1.000 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 tier1 - - 36 0 0.00 15 3 16.67 CELSR2 0 genome.wustl.edu 37 1 109816043 109816043 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 109816043 109816043 C T SNP CELSR2 ENST00000498157 human ensembl 74_37 +1 known rna NULL NULL 0.232 - - - no_errors CELSR2 HGNC ENSG00000143126 tier1 - - 44 0 0.00 43 17 28.33 CELSR3 0 genome.wustl.edu 37 3 48697857 48697858 + Frame_Shift_Del DEL AG AG - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 48697857 48697858 AG - DEL CELSR3 ENST00000544264 human ensembl 74_37 -1 known frame_shift_del c.2211_2210 p.S737fs 0.098:1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 tier1 60 0 0.00 36 11 23.40 CEND1 0 genome.wustl.edu 37 11 788130 788130 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 788130 788130 T - DEL CEND1 ENST00000330106 human ensembl 74_37 -1 known frame_shift_del c.447 p.K149fs 0.985 NULL NULL - no_errors CEND1 HGNC ENSG00000184524 tier1 24 0 0.00 11 12 52.17 CEP290 0 genome.wustl.edu 37 12 88487681 88487681 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 88487681 88487681 T - DEL CEP290 ENST00000309041 human ensembl 74_37 -1 known frame_shift_del c.3181 p.I1061fs 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 tier1 43 0 0.00 44 17 27.87 CEP350 0 genome.wustl.edu 37 1 179993623 179993623 + Silent SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 179993623 179993623 T C SNP CEP350 ENST00000367607 human ensembl 74_37 +1 known silent c.3456 p.V1152 0.004 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 tier1 - - 42 0 0.00 71 17 19.32 CEPT1 0 genome.wustl.edu 37 1 111703576 111703578 + RNA DEL AAA AAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 111703576 111703578 AAA - DEL CEPT1 ENST00000480324 human ensembl 74_37 +1 known rna NULL NULL 0.207:0.326:0.318 - - - no_errors CEPT1 HGNC ENSG00000134255 tier1 19 0 0.00 14 4 22.22 CERK 0 genome.wustl.edu 37 22 47095243 47095243 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 47095243 47095243 G A SNP CERK ENST00000216264 human ensembl 74_37 -1 known missense c.910 p.R304W 1.000 NULL pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom - no_errors CERK HGNC ENSG00000100422 tier1 - - 94 0 0.00 36 32 47.06 CERS2 0 genome.wustl.edu 37 1 150937767 150937767 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 150937767 150937767 T - DEL CERS2 ENST00000345896 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CERS2 HGNC ENSG00000143418 tier1 14 0 0.00 26 15 36.59 CES1 0 genome.wustl.edu 37 16 55857578 55857578 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 55857578 55857578 G A SNP CES1 ENST00000360526 human ensembl 74_37 -1 known silent c.423 p.H141 0.907 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES1 HGNC ENSG00000198848 tier1 - - 491 0 0.00 319 110 25.64 CES5A 0 genome.wustl.edu 37 16 55903619 55903619 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 55903619 55903619 C T SNP CES5A ENST00000521992 human ensembl 74_37 -1 known missense c.542 p.G181D 0.961 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES5A HGNC ENSG00000159398 tier1 - - 55 0 0.00 35 15 30.00 CETN3 0 genome.wustl.edu 37 5 89701581 89701581 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 89701581 89701581 T - DEL CETN3 ENST00000283122 human ensembl 74_37 -1 known frame_shift_del c.189 p.A64fs 1.000 pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CETN3 HGNC ENSG00000153140 tier1 66 0 0.00 59 26 30.59 CGN 0 genome.wustl.edu 37 1 151491588 151491588 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 151491588 151491588 G T SNP CGN ENST00000271636 human ensembl 74_37 +1 known missense c.593 p.G198V 1.000 NULL pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 42 0 0.00 51 4 7.27 CHAF1A 0 genome.wustl.edu 37 19 4409561 4409564 + Frame_Shift_Del DEL CCTT CCTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 CCTT CCTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 4409561 4409564 CCTT - DEL CHAF1A ENST00000301280 human ensembl 74_37 +1 known frame_shift_del c.765_768 p.L256fs 0.006:0.007:0.000:0.000 NULL pfam_CAF1A - no_errors CHAF1A HGNC ENSG00000167670 tier1 62 0 0.00 32 12 27.27 CHAT 0 genome.wustl.edu 37 10 50827789 50827789 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 50827789 50827789 G A SNP CHAT ENST00000337653 human ensembl 74_37 +1 known missense c.406 p.V136M 0.993 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CHAT HGNC ENSG00000070748 tier1 rs201479289 - 56 0 0.00 22 8 26.67 CHAT 0 genome.wustl.edu 37 10 50854670 50854670 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 50854670 50854670 G A SNP CHAT ENST00000337653 human ensembl 74_37 +1 known missense c.1231 p.G411R 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CHAT HGNC ENSG00000070748 tier1 - - 65 0 0.00 31 19 37.25 CHCHD5 0 genome.wustl.edu 37 2 113346512 113346512 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 113346512 113346512 A - DEL CHCHD5 ENST00000469030 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CHCHD5 HGNC ENSG00000125611 tier1 43 0 0.00 21 20 48.78 CHD2 0 genome.wustl.edu 37 15 93521378 93521378 + RNA SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 93521378 93521378 G T SNP CHD2 ENST00000557340 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CHD2 HGNC ENSG00000173575 tier1 - - 78 0 0.00 69 4 5.48 CHD2 0 genome.wustl.edu 37 15 93528733 93528733 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 93528733 93528733 G T SNP CHD2 ENST00000557381 human ensembl 74_37 +1 putative missense c.3243 p.Q1081H 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 tier1 - - 56 0 0.00 64 4 5.88 CHD3 0 genome.wustl.edu 37 17 7797811 7797811 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 7797811 7797811 G A SNP CHD3 ENST00000330494 human ensembl 74_37 +1 known missense c.1154 p.C385Y 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 tier1 - - 73 0 0.00 37 24 39.34 CHD6 0 genome.wustl.edu 37 20 40054758 40054758 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 40054758 40054758 G A SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known silent c.4104 p.S1368 0.999 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 tier1 - - 37 0 0.00 26 15 36.59 CHD8 0 genome.wustl.edu 37 14 21899050 21899050 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 21899050 21899050 C T SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known silent c.753 p.Q251 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 tier1 - - 43 0 0.00 16 16 50.00 CHERP 0 genome.wustl.edu 37 19 16633994 16633994 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 16633994 16633994 G - DEL CHERP ENST00000546361 human ensembl 74_37 -1 known frame_shift_del c.1849 p.H617fs 0.998 NULL pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors CHERP HGNC ENSG00000085872 tier1 33 0 0.00 19 16 45.71 CHGA 0 genome.wustl.edu 37 14 93392964 93392964 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 93392964 93392964 C T SNP CHGA ENST00000216492 human ensembl 74_37 +1 known silent c.108 p.I36 0.998 pfam_Granin,prints_Chromogranin_AB pfam_Granin,prints_Chromogranin_AB - no_errors CHGA HGNC ENSG00000100604 tier1 - - 41 0 0.00 29 11 27.50 CHID1 0 genome.wustl.edu 37 11 893458 893458 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 893458 893458 G T SNP CHID1 ENST00000323541 human ensembl 74_37 -1 known missense c.760 p.L254I 0.998 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHID1 HGNC ENSG00000177830 tier1 - - 150 0 0.00 65 51 43.97 CHL1 0 genome.wustl.edu 37 3 439987 439987 + Nonsense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 439987 439987 G T SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known nonsense c.3172 p.E1058* 0.970 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_dom - no_errors CHL1 HGNC ENSG00000134121 tier1 - - 45 0 0.00 26 28 51.85 CHM 0 genome.wustl.edu 37 X 85118101 85118101 + Splice_Site DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 85118101 85118101 T - DEL CHM ENST00000467744 human ensembl 74_37 -1 known splice_site_del c.NULL NULL 0.003 - - - no_errors CHM HGNC ENSG00000188419 tier1 13 0 0.00 11 5 31.25 CHPF2 0 genome.wustl.edu 37 7 150932435 150932435 + Missense_Mutation SNP G G C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 150932435 150932435 G C SNP CHPF2 ENST00000035307 human ensembl 74_37 +1 known missense c.565 p.A189P 1.000 pfam_Fringe-like pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHPF2 HGNC ENSG00000033100 tier1 - - 57 0 0.00 27 21 42.86 CHPF2 0 genome.wustl.edu 37 7 150935268 150935268 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 150935268 150935268 G T SNP CHPF2 ENST00000035307 human ensembl 74_37 +1 known missense c.1820 p.C607F 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHPF2 HGNC ENSG00000033100 tier1 - - 34 0 0.00 24 4 14.29 CHPF2 0 genome.wustl.edu 37 7 150935672 150935672 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 150935672 150935672 T C SNP CHPF2 ENST00000035307 human ensembl 74_37 +1 known missense c.2224 p.Y742H 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHPF2 HGNC ENSG00000033100 tier1 - - 36 0 0.00 21 12 36.36 CHRD 0 genome.wustl.edu 37 3 184104414 184104414 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 184104414 184104414 G A SNP CHRD ENST00000204604 human ensembl 74_37 +1 known silent c.2067 p.A689 0.000 pirsf_Chordin pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C - no_errors CHRD HGNC ENSG00000090539 tier1 - - 8 0 0.00 3 5 62.50 CHRM3 0 genome.wustl.edu 37 1 240072235 240072235 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 240072235 240072235 C T SNP CHRM3 ENST00000255380 human ensembl 74_37 +1 known missense c.1484 p.A495V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 tier1 - - 51 0 0.00 22 18 45.00 CHRM3 0 genome.wustl.edu 37 1 240072444 240072444 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 240072444 240072444 A - DEL CHRM3 ENST00000255380 human ensembl 74_37 +1 known frame_shift_del c.1693 p.K567fs 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 tier1 46 0 0.00 21 21 50.00 CHRNB2 0 genome.wustl.edu 37 1 154544175 154544175 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 154544175 154544175 C T SNP CHRNB2 ENST00000368476 human ensembl 74_37 +1 known silent c.876 p.L292 0.886 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB2 HGNC ENSG00000160716 tier1 - - 49 0 0.00 38 16 29.63 CHST12 0 genome.wustl.edu 37 7 2473033 2473033 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 2473033 2473033 C T SNP CHST12 ENST00000258711 human ensembl 74_37 +1 known silent c.759 p.S253 0.076 pfam_Sulfotransferase,superfamily_P-loop_NTPase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors CHST12 HGNC ENSG00000136213 tier1 - - 67 0 0.00 27 25 48.08 CHST3 0 genome.wustl.edu 37 10 73768016 73768016 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 73768016 73768016 C T SNP CHST3 ENST00000373115 human ensembl 74_37 +1 known silent c.1227 p.H409 0.006 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST3 HGNC ENSG00000122863 tier1 - - 52 0 0.00 26 26 50.00 CHUK 0 genome.wustl.edu 37 10 101953783 101953783 + Silent SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 101953783 101953783 T C SNP CHUK ENST00000370397 human ensembl 74_37 -1 known silent c.1932 p.G644 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors CHUK HGNC ENSG00000213341 tier1 - - 64 0 0.00 57 34 37.36 CILP 0 genome.wustl.edu 37 15 65499358 65499358 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 65499358 65499358 G A SNP CILP ENST00000261883 human ensembl 74_37 -1 known silent c.186 p.I62 0.065 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP HGNC ENSG00000138615 tier1 - - 81 0 0.00 33 33 50.00 CISD3 0 genome.wustl.edu 37 17 36890761 36890761 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 36890761 36890761 G A SNP CISD3 ENST00000578573 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CISD3 HGNC ENSG00000230055 tier1 - - 11 0 0.00 8 8 50.00 CISD3 0 genome.wustl.edu 37 17 36890781 36890783 + RNA DEL AAA AAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 36890781 36890783 AAA - DEL CISD3 ENST00000578573 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors CISD3 HGNC ENSG00000230055 tier1 13 0 0.00 10 9 47.37 CLASP1 0 genome.wustl.edu 37 2 122135110 122135110 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 122135110 122135110 G A SNP CLASP1 ENST00000263710 human ensembl 74_37 -1 known missense c.3607 p.P1203S 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP1 HGNC ENSG00000074054 tier1 - - 51 0 0.00 31 16 34.04 CLASP1 0 genome.wustl.edu 37 2 122208519 122208519 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 122208519 122208519 G T SNP CLASP1 ENST00000263710 human ensembl 74_37 -1 known missense c.1493 p.A498D 1.000 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP1 HGNC ENSG00000074054 tier1 - - 60 0 0.00 49 5 9.26 CLASRP 0 genome.wustl.edu 37 19 45567329 45567329 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 45567329 45567329 G A SNP CLASRP ENST00000221455 human ensembl 74_37 +1 known missense c.965 p.R322H 0.963 NULL pfam_SWAP_N_domain - no_errors CLASRP HGNC ENSG00000104859 tier1 - - 30 0 0.00 17 29 63.04 CLCN5 0 genome.wustl.edu 37 X 49806967 49806967 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 49806967 49806967 G T SNP CLCN5 ENST00000376088 human ensembl 74_37 +1 known missense c.59 p.S20I 1.000 NULL pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-5 - no_errors CLCN5 HGNC ENSG00000171365 tier1 - - 52 0 0.00 34 5 12.82 CLEC16A 0 genome.wustl.edu 37 16 11272291 11272291 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 11272291 11272291 C T SNP CLEC16A ENST00000409790 human ensembl 74_37 +1 known missense c.2906 p.A969V 0.001 NULL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC ENSG00000038532 tier1 - - 53 0 0.00 21 16 43.24 CLEC18A 0 genome.wustl.edu 37 16 69985298 69985298 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 69985298 69985298 G 0 DEL CLEC18A ENST00000449317 human ensembl 74_37 +1 known frame_shift_del c.29 p.H12fs 0.000 NULL pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1 - no_errors CLEC18A HGNC ENSG00000157322 59 0 0.00 49 6 10.91 CLEC3B 0 genome.wustl.edu 37 3 45077350 45077350 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 45077350 45077350 C T SNP CLEC3B ENST00000296130 human ensembl 74_37 +1 known silent c.543 p.N181 0.002 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC3B HGNC ENSG00000163815 tier1 - - 71 0 0.00 60 4 6.25 CLEC9A 0 genome.wustl.edu 37 12 10205421 10205424 + RNA DEL TTTT TTTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTTT TTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 10205421 10205424 TTTT - DEL CLEC9A ENST00000544751 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.008:0.006 - - - no_errors CLEC9A HGNC ENSG00000197992 tier1 25 0 0.00 34 18 34.62 CLIC4 0 genome.wustl.edu 37 1 25124245 25124245 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 25124245 25124245 G T SNP CLIC4 ENST00000374379 human ensembl 74_37 +1 known missense c.85 p.G29C 1.000 superfamily_Thioredoxin-like_fold,tigrfam_Int_Cl_channel superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC4 HGNC ENSG00000169504 tier1 - - 71 0 0.00 50 37 42.53 CLIC5 0 genome.wustl.edu 37 6 45882249 45882249 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 45882249 45882249 C T SNP CLIC5 ENST00000484572 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CLIC5 HGNC ENSG00000112782 tier1 - - 12 0 0.00 11 7 38.89 CLIP2 0 genome.wustl.edu 37 7 73790972 73790972 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 73790972 73790972 G T SNP CLIP2 ENST00000223398 human ensembl 74_37 +1 known missense c.2241 p.Q747H 0.969 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 tier1 - - 42 0 0.00 28 20 41.67 CLK2 0 genome.wustl.edu 37 1 155232994 155232994 + RNA SNP C C G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 155232994 155232994 C G SNP CLK2 ENST00000476983 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CLK2 HGNC ENSG00000176444 tier1 - - 32 0 0.00 24 9 27.27 CLK2 0 genome.wustl.edu 37 1 155238599 155238600 + RNA INS - - G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 155238599 155238600 - G INS CLK2 ENST00000497188 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors CLK2 HGNC ENSG00000176444 tier1 31 0 0.00 16 7 30.43 CLN6 0 genome.wustl.edu 37 15 68500615 68500615 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 68500615 68500615 C T SNP CLN6 ENST00000249806 human ensembl 74_37 -1 known missense c.799 p.A267T 0.000 NULL NULL - no_errors CLN6 HGNC ENSG00000128973 tier1 - - 20 0 0.00 19 9 32.14 CLN8 0 genome.wustl.edu 37 8 1719218 1719218 + RNA SNP A A T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 1719218 1719218 A T SNP CLN8 ENST00000524258 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors CLN8 HGNC ENSG00000182372 tier1 - - 27 0 0.00 29 12 29.27 CLN8 0 genome.wustl.edu 37 8 1728667 1728667 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 1728667 1728667 C T SNP CLN8 ENST00000331222 human ensembl 74_37 +1 known silent c.795 p.F265 0.058 NULL pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors CLN8 HGNC ENSG00000182372 tier1 - - 33 0 0.00 18 8 30.77 CLP1 0 genome.wustl.edu 37 11 57428888 57428888 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 57428888 57428888 C T SNP CLP1 ENST00000525602 human ensembl 74_37 +1 known missense c.1258 p.R420W 1.000 pfam_Pre-mRNA_cleavage_cplxII_Clp1 pfam_Pre-mRNA_cleavage_cplxII_Clp1,superfamily_P-loop_NTPase - no_errors CLP1 HGNC ENSG00000172409 tier1 - - 28 0 0.00 16 13 44.83 CLPTM1L 0 genome.wustl.edu 37 5 1339037 1339037 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 1339037 1339037 C T SNP CLPTM1L ENST00000320895 human ensembl 74_37 -1 known missense c.537 p.M179I 1.000 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1L HGNC ENSG00000049656 tier1 - - 58 0 0.00 61 32 34.41 CLSTN2 0 genome.wustl.edu 37 3 140123554 140123554 + Missense_Mutation SNP A A T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 140123554 140123554 A T SNP CLSTN2 ENST00000458420 human ensembl 74_37 +1 known missense c.583 p.I195F 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 tier1 - - 91 0 0.00 78 5 6.02 CLSTN3 0 genome.wustl.edu 37 12 7310095 7310095 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 7310095 7310095 C T SNP CLSTN3 ENST00000266546 human ensembl 74_37 +1 known silent c.2538 p.S846 0.966 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC ENSG00000139182 tier1 - - 44 0 0.00 60 20 25.00 CLUH 0 genome.wustl.edu 37 17 2606773 2606774 + Frame_Shift_Ins INS - - G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 2606773 2606774 - G INS CLUH ENST00000435359 human ensembl 74_37 -1 known frame_shift_ins c.200_199 p.Q67fs 1.000:1.000 NULL superfamily_GSKIP_dom - no_errors CLUH HGNC ENSG00000132361 tier1 53 0 0.00 30 11 26.83 CLVS1 0 genome.wustl.edu 37 8 62212594 62212594 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 62212594 62212594 C T SNP CLVS1 ENST00000325897 human ensembl 74_37 +1 known missense c.208 p.R70C 1.000 pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors CLVS1 HGNC ENSG00000177182 tier1 - - 60 0 0.00 51 17 25.00 CMC1 0 genome.wustl.edu 37 3 28357733 28357733 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 28357733 28357733 T - DEL CMC1 ENST00000469102 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors CMC1 HGNC ENSG00000187118 tier1 26 0 0.00 20 15 42.86 CMYA5 0 genome.wustl.edu 37 5 79026843 79026844 + Frame_Shift_Ins INS - - CT TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 79026843 79026844 - CT INS CMYA5 ENST00000446378 human ensembl 74_37 +1 known frame_shift_ins c.2255_2256 p.S756fs 0.000:0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 tier1 21 0 0.00 12 12 50.00 CNIH4 0 genome.wustl.edu 37 1 224544611 224544611 + RNA SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 224544611 224544611 G T SNP CNIH4 ENST00000366860 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors CNIH4 HGNC ENSG00000143771 tier1 - - 65 0 0.00 69 4 5.48 CNKSR1 0 genome.wustl.edu 37 1 26514777 26514778 + Frame_Shift_Ins INS - - C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 26514777 26514778 - C INS CNKSR1 ENST00000374253 human ensembl 74_37 +1 known frame_shift_ins c.1528_1529 p.P513fs 0.000:0.000 NULL pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR1 HGNC ENSG00000142675 tier1 73 0 0.00 55 29 34.52 CNKSR1 0 genome.wustl.edu 37 1 26514778 26514778 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 26514778 26514778 C - DEL CNKSR1 ENST00000374253 human ensembl 74_37 +1 known frame_shift_del c.1529 p.P512fs 0.000 NULL pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR1 HGNC ENSG00000142675 tier1 73 0 0.00 59 25 29.76 CNKSR2 0 genome.wustl.edu 37 X 21627459 21627459 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 21627459 21627459 C T SNP CNKSR2 ENST00000379510 human ensembl 74_37 +1 known missense c.2416 p.R806W 1.000 NULL pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC ENSG00000149970 tier1 - - 28 0 0.00 7 24 77.42 CNN1 0 genome.wustl.edu 37 19 11649718 11649718 + RNA DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 11649718 11649718 C - DEL CNN1 ENST00000588468 human ensembl 74_37 +1 known rna NULL NULL 0.199 - - - no_errors CNN1 HGNC ENSG00000130176 tier1 78 0 0.00 51 24 32.00 CNNM2 0 genome.wustl.edu 37 10 104679763 104679763 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 104679763 104679763 C - DEL CNNM2 ENST00000369878 human ensembl 74_37 +1 known frame_shift_del c.1526 p.L511fs 1.000 NULL pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC ENSG00000148842 tier1 88 0 0.00 31 36 53.73 CNOT1 0 genome.wustl.edu 37 16 58575501 58575501 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 58575501 58575501 C A SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known missense c.4704 p.Q1568H 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 tier1 - - 41 0 0.00 28 20 41.67 CNPY3 0 genome.wustl.edu 37 6 42897358 42897360 + In_Frame_Del DEL TGC TGC - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 42897358 42897360 TGC - DEL CNPY3 ENST00000372836 human ensembl 74_37 +1 known in_frame_del c.50_52 p.L21in_frame_del 0.122:0.131:0.153 NULL pfam_DUF3456 - no_errors CNPY3 HGNC ENSG00000137161 tier1 35 0 0.00 14 5 26.32 CNPY3 0 genome.wustl.edu 37 6 42905914 42905914 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 42905914 42905914 C T SNP CNPY3 ENST00000372836 human ensembl 74_37 +1 known silent c.582 p.C194 1.000 pfam_DUF3456 pfam_DUF3456 - no_errors CNPY3 HGNC ENSG00000137161 tier1 - - 73 0 0.00 76 5 6.17 CNTLN 0 genome.wustl.edu 37 9 17135271 17135271 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 17135271 17135271 G - DEL CNTLN ENST00000380647 human ensembl 74_37 +1 known frame_shift_del c.208 p.A72fs 0.002 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 tier1 33 0 0.00 25 10 28.57 CNTLN 0 genome.wustl.edu 37 9 17135271 17135271 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 17135271 17135271 G T SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known missense c.208 p.G70W 0.002 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 33 0 0.00 20 5 14.29 CNTN2 0 genome.wustl.edu 37 1 205031075 205031075 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 205031075 205031075 C T SNP CNTN2 ENST00000331830 human ensembl 74_37 +1 known silent c.1056 p.G352 0.995 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN2 HGNC ENSG00000184144 tier1 - - 54 0 0.00 70 19 21.35 CNTN5 0 genome.wustl.edu 37 11 99827718 99827718 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 99827718 99827718 C T SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known missense c.854 p.T285M 1.000 smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN5 HGNC ENSG00000149972 tier1 - - 22 0 0.00 12 12 50.00 CNTNAP1 0 genome.wustl.edu 37 17 40844640 40844640 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 40844640 40844640 A G SNP CNTNAP1 ENST00000264638 human ensembl 74_37 +1 known missense c.2654 p.K885R 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 70 0 0.00 52 3 5.45 CNTNAP3 0 genome.wustl.edu 37 9 39102541 39102541 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 39102541 39102541 G 0 DEL CNTNAP3 ENST00000297668 human ensembl 74_37 -1 known frame_shift_del c.2708 p.P903fs 0.923 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3 HGNC ENSG00000106714 44 0 0.00 27 14 34.15 CNTRL 0 genome.wustl.edu 37 9 123935992 123935992 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 123935992 123935992 C T SNP CNTRL ENST00000238341 human ensembl 74_37 +1 known missense c.6724 p.R2242C 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 tier1 - - 36 0 0.00 17 6 26.09 COBLL1 0 genome.wustl.edu 37 2 165551296 165551297 + Frame_Shift_Del DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 165551296 165551297 AA - DEL COBLL1 ENST00000194871 human ensembl 74_37 -1 known frame_shift_del c.2921_2920 p.L974fs 0.972:0.886 NULL pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 tier1 22 0 0.00 5 18 78.26 COL11A1 0 genome.wustl.edu 37 1 103474067 103474067 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 103474067 103474067 C - DEL COL11A1 ENST00000358392 human ensembl 74_37 -1 known frame_shift_del c.1671 p.P558fs 0.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 tier1 46 0 0.00 28 18 39.13 COL11A2 0 genome.wustl.edu 37 6 33152023 33152023 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 33152023 33152023 G T SNP COL11A2 ENST00000341947 human ensembl 74_37 -1 known missense c.1018 p.P340T 0.910 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 tier1 - - 51 0 0.00 49 4 7.55 COL13A1 0 genome.wustl.edu 37 10 71658500 71658500 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 71658500 71658500 A - DEL COL13A1 ENST00000356340 human ensembl 74_37 +1 known frame_shift_del c.762 p.R256fs 0.992 NULL pfam_Collagen - no_errors COL13A1 HGNC ENSG00000197467 tier1 54 0 0.00 36 18 33.33 COL13A1 0 genome.wustl.edu 37 10 71697406 71697406 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 71697406 71697406 G A SNP COL13A1 ENST00000356340 human ensembl 74_37 +1 known missense c.1780 p.D594N 1.000 pfam_Collagen pfam_Collagen - no_errors COL13A1 HGNC ENSG00000197467 tier1 - - 67 0 0.00 11 13 54.17 COL14A1 0 genome.wustl.edu 37 8 121292216 121292216 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 121292216 121292216 C T SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known missense c.3524 p.S1175L 0.986 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 tier1 - - 78 0 0.00 98 43 30.50 COL21A1 0 genome.wustl.edu 37 6 56035809 56035809 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 56035809 56035809 T - DEL COL21A1 ENST00000244728 human ensembl 74_37 -1 known frame_shift_del c.758 p.K253fs 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL21A1 HGNC ENSG00000124749 tier1 97 0 0.00 71 32 31.07 COL25A1 0 genome.wustl.edu 37 4 109773420 109773420 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 109773420 109773420 G T SNP COL25A1 ENST00000399132 human ensembl 74_37 -1 known missense c.1361 p.P454H 1.000 pfam_Collagen pfam_Collagen - no_errors COL25A1 HGNC ENSG00000188517 tier1 - - 55 0 0.00 69 4 5.48 COL27A1 0 genome.wustl.edu 37 9 116924994 116924994 + Splice_Site DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 116924994 116924994 G - DEL COL27A1 ENST00000356083 human ensembl 74_37 +1 known splice_site_del c.63-1 e2-1 1.000 - - - no_errors COL27A1 HGNC ENSG00000196739 tier1 15 0 0.00 9 5 35.71 COL3A1 0 genome.wustl.edu 37 2 189868173 189868173 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 189868173 189868173 G T SNP COL3A1 ENST00000304636 human ensembl 74_37 +1 known missense c.2590 p.G864C 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL3A1 HGNC ENSG00000168542 tier1 - - 67 0 0.00 63 6 8.70 COL4A2 0 genome.wustl.edu 37 13 111117918 111117918 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 111117918 111117918 G T SNP COL4A2 ENST00000360467 human ensembl 74_37 +1 known missense c.1943 p.G648V 0.554 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 47 0 0.00 50 4 7.41 COL4A5 0 genome.wustl.edu 37 X 107929267 107929267 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 107929267 107929267 C T SNP COL4A5 ENST00000328300 human ensembl 74_37 +1 known missense c.4223 p.T1408I 0.781 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 tier1 - - 32 0 0.00 23 4 14.81 COL5A2 0 genome.wustl.edu 37 2 189904132 189904132 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 189904132 189904132 G A SNP COL5A2 ENST00000374866 human ensembl 74_37 -1 known missense c.3791 p.T1264M 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 tier1 - - 103 0 0.00 53 29 35.37 COL6A2 0 genome.wustl.edu 37 21 47531407 47531407 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 47531407 47531407 G T SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known missense c.17 p.C6F 0.000 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 tier1 - - 61 0 0.00 53 4 7.02 COL6A2 0 genome.wustl.edu 37 21 47532223 47532223 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 47532223 47532223 G A SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known missense c.446 p.R149H 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 tier1 rs143891262 - 19 0 0.00 7 4 36.36 COL6A3 0 genome.wustl.edu 37 2 238253013 238253013 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 238253013 238253013 G T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.7648 p.Q2550K 0.866 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 31 0 0.00 29 2 6.45 COL7A1 0 genome.wustl.edu 37 3 48616352 48616352 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 48616352 48616352 G A SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known silent c.5424 p.D1808 0.963 NULL pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 tier1 - - 31 0 0.00 14 12 46.15 COL9A1 0 genome.wustl.edu 37 6 70991130 70991130 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 70991130 70991130 G A SNP COL9A1 ENST00000357250 human ensembl 74_37 -1 known missense c.839 p.P280L 0.974 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 tier1 - - 42 0 0.00 17 7 29.17 COLEC10 0 genome.wustl.edu 37 8 120101974 120101974 + Silent SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 120101974 120101974 A G SNP COLEC10 ENST00000332843 human ensembl 74_37 +1 known silent c.204 p.G68 0.489 pfam_Collagen pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors COLEC10 HGNC ENSG00000184374 tier1 - - 40 0 0.00 48 15 23.81 COPA 0 genome.wustl.edu 37 1 160261861 160261861 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 160261861 160261861 G A SNP COPA ENST00000368069 human ensembl 74_37 -1 known missense c.3115 p.R1039C 1.000 pfam_Coatomer_asu_C,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 tier1 - - 50 0 0.00 55 21 27.63 COPB1 0 genome.wustl.edu 37 11 14486551 14486551 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 14486551 14486551 C T SNP COPB1 ENST00000249923 human ensembl 74_37 -1 known silent c.2316 p.P772 0.443 pfam_Coatomer_bsu_C,pirsf_COPB1 pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 - no_errors COPB1 HGNC ENSG00000129083 tier1 - - 46 0 0.00 22 18 45.00 COQ10B 0 genome.wustl.edu 37 2 198318518 198318518 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 198318518 198318518 T - DEL COQ10B ENST00000488445 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors COQ10B HGNC ENSG00000115520 tier1 36 0 0.00 19 16 45.71 CORIN 0 genome.wustl.edu 37 4 47788868 47788868 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 47788868 47788868 C T SNP CORIN ENST00000273857 human ensembl 74_37 -1 known missense c.283 p.D95N 0.004 pirsf_Peptidase_S1A_corin pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors CORIN HGNC ENSG00000145244 tier1 - - 49 0 0.00 37 26 41.27 COX16 0 genome.wustl.edu 37 14 70793016 70793017 + RNA DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 70793016 70793017 AA - DEL COX16 ENST00000557612 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.001 - - - no_errors COX16 HGNC ENSG00000133983 tier1 29 0 0.00 16 21 56.76 CPB1 0 genome.wustl.edu 37 3 148558742 148558742 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 148558742 148558742 C T SNP CPB1 ENST00000282957 human ensembl 74_37 +1 known missense c.454 p.R152C 0.992 pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPB1 HGNC ENSG00000153002 tier1 - - 35 0 0.00 27 14 34.15 CPEB4 0 genome.wustl.edu 37 5 173370047 173370047 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 173370047 173370047 G T SNP CPEB4 ENST00000265085 human ensembl 74_37 +1 known missense c.1277 p.R426M 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB4 HGNC ENSG00000113742 tier1 - - 53 0 0.00 71 4 5.33 CPED1 0 genome.wustl.edu 37 7 120704315 120704315 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 120704315 120704315 G A SNP CPED1 ENST00000310396 human ensembl 74_37 +1 known silent c.564 p.Q188 1.000 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 tier1 - - 81 0 0.00 53 32 37.21 CPLX4 0 genome.wustl.edu 37 18 56963955 56963955 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 56963955 56963955 G A SNP CPLX4 ENST00000299721 human ensembl 74_37 -1 known missense c.458 p.A153V 1.000 NULL pfam_Synaphin - no_errors CPLX4 HGNC ENSG00000166569 tier1 - - 65 0 0.00 40 21 34.43 CPNE6 0 genome.wustl.edu 37 14 24542776 24542776 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 24542776 24542776 T - DEL CPNE6 ENST00000537691 human ensembl 74_37 +1 known frame_shift_del c.402 p.F136fs 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE6 HGNC ENSG00000100884 tier1 59 0 0.00 39 17 30.36 CPNE8 0 genome.wustl.edu 37 12 39047419 39047420 + RNA INS - - AAA TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 39047419 39047420 - AAA INS CPNE8 ENST00000546603 human ensembl 74_37 -1 known rna NULL NULL 0.031:0.001 - - - no_errors CPNE8 HGNC ENSG00000139117 tier1 35 0 0.00 54 6 10.00 CPNE8 0 genome.wustl.edu 37 12 39047419 39047420 + RNA INS - - AAAA TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 39047419 39047420 - AAAA INS CPNE8 ENST00000546603 human ensembl 74_37 -1 known rna NULL NULL 0.031:0.001 - - - no_errors CPNE8 HGNC ENSG00000139117 tier1 35 0 0.00 47 13 21.67 CPNE8 0 genome.wustl.edu 37 12 39079292 39079292 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 39079292 39079292 C T SNP CPNE8 ENST00000331366 human ensembl 74_37 -1 known missense c.1271 p.R424K 1.000 pfam_Copine,smart_VWF_A,pfscan_VWF_A pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE8 HGNC ENSG00000139117 tier1 - - 91 0 0.00 43 34 44.16 CPNE9 0 genome.wustl.edu 37 3 9768856 9768856 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 9768856 9768856 C T SNP CPNE9 ENST00000383832 human ensembl 74_37 +1 known missense c.1462 p.R488W 1.000 smart_VWF_A,pfscan_VWF_A pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE9 HGNC ENSG00000144550 tier1 - - 63 0 0.00 33 18 34.62 CPSF1 0 genome.wustl.edu 37 8 145621896 145621898 + In_Frame_Del DEL CTT CTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 145621896 145621898 CTT - DEL CPSF1 ENST00000349769 human ensembl 74_37 -1 known in_frame_del c.2743_2741 p.E914in_frame_del 1.000:0.999:1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 tier1 39 0 0.00 34 12 26.09 CPSF6 0 genome.wustl.edu 37 12 69650552 69650552 + Missense_Mutation SNP T T A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 69650552 69650552 T A SNP CPSF6 ENST00000266679 human ensembl 74_37 +1 known missense c.450 p.H150Q 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPSF6 HGNC ENSG00000111605 tier1 - - 79 0 0.00 45 48 51.61 CPT1B 0 genome.wustl.edu 37 22 51010669 51010669 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 51010669 51010669 G A SNP CPT1B ENST00000312108 human ensembl 74_37 -1 known missense c.1421 p.A474V 0.994 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1B HGNC ENSG00000205560 tier1 - - 27 0 0.00 16 13 44.83 CR1 0 genome.wustl.edu 37 1 207787753 207787753 + Nonsense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 207787753 207787753 C T SNP CR1 ENST00000367049 human ensembl 74_37 +1 known nonsense c.6580 p.R2194* 0.477 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 tier1 rs55749440 - 176 0 0.00 230 41 15.13 CR2 0 genome.wustl.edu 37 1 207642015 207642018 + Frame_Shift_Del DEL TGTT TGTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TGTT TGTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 207642015 207642018 TGTT - DEL CR2 ENST00000367057 human ensembl 74_37 +1 known frame_shift_del c.589_592 p.S199fs 0.960:0.990:0.985:0.986 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 tier1 127 0 0.00 97 30 23.62 CRB1 0 genome.wustl.edu 37 1 197390734 197390734 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 197390734 197390734 C T SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known silent c.1776 p.I592 0.002 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 29 0 0.00 38 2 5.00 CRCT1 0 genome.wustl.edu 37 1 152488094 152488094 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 152488094 152488094 G - DEL CRCT1 ENST00000368790 human ensembl 74_37 +1 known frame_shift_del c.235 p.G80fs 0.677 NULL NULL - no_errors CRCT1 HGNC ENSG00000169509 tier1 14 0 0.00 12 9 42.86 CREBBP 0 genome.wustl.edu 37 16 3828084 3828085 + Frame_Shift_Ins INS - - C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 3828084 3828085 - C INS CREBBP ENST00000262367 human ensembl 74_37 -1 known frame_shift_ins c.2041_2040 p.N680fs 1.000:1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 tier1 95 0 0.00 77 30 28.04 CRMP1 0 genome.wustl.edu 37 4 5843033 5843033 + Splice_Site SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 5843033 5843033 A G SNP CRMP1 ENST00000324989 human ensembl 74_37 -1 known splice_site c.1153+2 e8+2 1.000 - - - no_errors CRMP1 HGNC ENSG00000072832 10 0 0.00 7 3 30.00 CROCC 0 genome.wustl.edu 37 1 17297165 17297165 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 17297165 17297165 C T SNP CROCC ENST00000375541 human ensembl 74_37 +1 known missense c.5687 p.T1896I 0.947 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 tier1 - - 54 0 0.00 25 22 46.81 CROCCP3 0 genome.wustl.edu 37 1 16809912 16809912 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 16809912 16809912 C T SNP CROCCP3 ENST00000263511 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors CROCCP3 HGNC ENSG00000080947 tier1 - - 163 0 0.00 91 41 31.06 CRY2 0 genome.wustl.edu 37 11 45891125 45891125 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 45891125 45891125 G T SNP CRY2 ENST00000443527 human ensembl 74_37 +1 known silent c.1014 p.T338 0.986 pfam_Photolyase_FAD-bd/Cryptochr_C,superfamily_Photolyase_FAD-bd/Cryptochr_C pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N - no_errors CRY2 HGNC ENSG00000121671 73 0 0.00 38 2 5.00 CRYAA 0 genome.wustl.edu 37 21 44589921 44589922 + Frame_Shift_Del DEL CC CC - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 44589921 44589922 CC - DEL CRYAA ENST00000398133 human ensembl 74_37 +1 putative frame_shift_del c.87_88 p.H33fs 0.026:0.029 superfamily_HSP20-like_chaperone pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors CRYAA HGNC ENSG00000160202 tier1 32 0 0.00 33 25 43.10 CRYAB 0 genome.wustl.edu 37 11 111779648 111779648 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 111779648 111779648 C T SNP CRYAB ENST00000227251 human ensembl 74_37 -1 known missense c.368 p.R123Q 1.000 pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP pfam_Alpha-crystallin_N,pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors CRYAB HGNC ENSG00000109846 tier1 - - 56 0 0.00 24 19 44.19 CRYBA4 0 genome.wustl.edu 37 22 27024395 27024395 + Splice_Site SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 27024395 27024395 G A SNP CRYBA4 ENST00000354760 human ensembl 74_37 +1 known splice_site c.443+1 e4+1 1.000 - - - no_errors CRYBA4 HGNC ENSG00000196431 21 0 0.00 18 6 25.00 CRYBG3 0 genome.wustl.edu 37 3 97596787 97596787 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 97596787 97596787 A - DEL CRYBG3 ENST00000182096 human ensembl 74_37 +1 known frame_shift_del c.905 p.G304fs 1.000 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC ENSG00000080200 tier1 44 0 0.00 36 16 30.77 CSDE1 0 genome.wustl.edu 37 1 115292534 115292534 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 115292534 115292534 A - DEL CSDE1 ENST00000524652 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CSDE1 HGNC ENSG00000009307 tier1 53 0 0.00 22 18 45.00 CSF2RA 0 genome.wustl.edu 37 X 1428554 1428554 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 1428554 1428554 C T SNP CSF2RA ENST00000498153 human ensembl 74_37 +1 known rna NULL NULL 0.053 - - - no_errors CSF2RA HGNC ENSG00000198223 tier1 - - 33 0 0.00 17 22 56.41 CSF2RB 0 genome.wustl.edu 37 22 37328884 37328884 + Nonsense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 37328884 37328884 C T SNP CSF2RB ENST00000262825 human ensembl 74_37 +1 known nonsense c.1108 p.R370* 0.000 pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC ENSG00000100368 tier1 - - 44 0 0.00 19 19 50.00 CSF3R 0 genome.wustl.edu 37 1 36938156 36938156 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 36938156 36938156 G A SNP CSF3R ENST00000373103 human ensembl 74_37 -1 known missense c.805 p.R269C 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF3R HGNC ENSG00000119535 tier1 - - 78 0 0.00 35 23 39.66 CSH2 0 genome.wustl.edu 37 17 61949908 61949908 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 61949908 61949908 G T SNP CSH2 ENST00000336844 human ensembl 74_37 -1 known missense c.485 p.P162H 0.001 superfamily_4_helix_cytokine-like_core pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors CSH2 HGNC ENSG00000213218 tier1 - - 96 0 0.00 87 5 5.43 CSMD2 0 genome.wustl.edu 37 1 34011768 34011768 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 34011768 34011768 C T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.8969 p.R2990H 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 tier1 - - 33 0 0.00 25 9 26.47 CSMD2 0 genome.wustl.edu 37 1 34190222 34190222 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 34190222 34190222 C T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.2779 p.A927T 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 tier1 - - 54 0 0.00 14 8 36.36 CSMD3 0 genome.wustl.edu 37 8 113241029 113241029 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 113241029 113241029 A - DEL CSMD3 ENST00000297405 human ensembl 74_37 -1 known frame_shift_del c.10920 p.F3640fs 1.000 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 36 0 0.00 39 9 18.75 CSMD3 0 genome.wustl.edu 37 8 113349856 113349856 + Nonsense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 113349856 113349856 C A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known nonsense c.6757 p.G2253* 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 39 0 0.00 45 15 25.00 CSNK1A1 0 genome.wustl.edu 37 5 148875308 148875311 + RNA DEL AAAA AAAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 148875308 148875311 AAAA - DEL CSNK1A1 ENST00000412431 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.004:0.004:0.004 - - - no_errors CTB-89H12.4 Clone_based_vega_gene ENSG00000230551 tier1 26 0 0.00 23 6 20.69 CSNK1G2-AS1 0 genome.wustl.edu 37 19 1954179 1954179 + RNA SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 1954179 1954179 G T SNP CSNK1G2-AS1 ENST00000314315 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CSNK1G2-AS1 HGNC ENSG00000180846 tier1 - - 51 0 0.00 41 6 12.77 CSRNP3 0 genome.wustl.edu 37 2 166535346 166535346 + Nonsense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 166535346 166535346 C T SNP CSRNP3 ENST00000314499 human ensembl 74_37 +1 known nonsense c.841 p.R281* 1.000 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP3 HGNC ENSG00000178662 tier1 - - 53 0 0.00 28 32 53.33 CTBP2 0 genome.wustl.edu 37 10 126692022 126692022 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 126692022 126692022 C T SNP CTBP2 ENST00000309035 human ensembl 74_37 -1 known missense c.1718 p.R573H 1.000 NULL pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC ENSG00000175029 tier1 - - 198 0 0.00 93 65 40.88 CTBS 0 genome.wustl.edu 37 1 85020568 85020568 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 85020568 85020568 T - DEL CTBS ENST00000477677 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CTBS HGNC ENSG00000117151 tier1 17 0 0.00 18 6 25.00 CTC1 0 genome.wustl.edu 37 17 8132624 8132624 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 8132624 8132624 C T SNP CTC1 ENST00000315684 human ensembl 74_37 -1 known missense c.3152 p.R1051Q 0.236 NULL NULL - no_errors CTC1 HGNC ENSG00000178971 tier1 - - 63 0 0.00 29 32 52.46 CTDP1 0 genome.wustl.edu 37 18 77496373 77496373 + Nonsense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 77496373 77496373 G T SNP CTDP1 ENST00000299543 human ensembl 74_37 +1 known nonsense c.2599 p.E867* 1.000 pfam_FCP1_C pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk - no_errors CTDP1 HGNC ENSG00000060069 tier1 - - 35 0 0.00 47 6 11.32 CTNNA2 0 genome.wustl.edu 37 2 80085237 80085237 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 80085237 80085237 G A SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known missense c.499 p.A167T 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 tier1 - - 51 0 0.00 26 15 34.88 CTNS 0 genome.wustl.edu 37 17 3559997 3559997 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 3559997 3559997 G A SNP CTNS ENST00000381870 human ensembl 74_37 +1 known missense c.589 p.G197R 0.998 tigrfam_LC_transporter smart_CTNS,tigrfam_LC_transporter - no_errors CTNS HGNC ENSG00000040531 tier1 rs113994207 - 44 0 0.00 26 14 35.00 CTPS1 0 genome.wustl.edu 37 1 41462979 41462979 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 41462979 41462979 T - DEL CTPS1 ENST00000486889 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors CTPS1 HGNC ENSG00000171793 tier1 93 0 0.00 46 39 45.88 CTTNBP2NL 0 genome.wustl.edu 37 1 112999451 112999451 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 112999451 112999451 G A SNP CTTNBP2NL ENST00000271277 human ensembl 74_37 +1 known missense c.1337 p.G446D 1.000 NULL pfam_Cortactin-binding_p2_N - no_errors CTTNBP2NL HGNC ENSG00000143079 tier1 - - 21 0 0.00 26 15 36.59 CUBN 0 genome.wustl.edu 37 10 16990497 16990497 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 16990497 16990497 G A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.5189 p.T1730M 0.000 superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 tier1 rs201958183 - 69 0 0.00 19 14 42.42 CUBN 0 genome.wustl.edu 37 10 17165597 17165597 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 17165597 17165597 G - DEL CUBN ENST00000377833 human ensembl 74_37 -1 known frame_shift_del c.479 p.P160fs 0.470 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 tier1 35 0 0.00 19 5 20.83 CUL2 0 genome.wustl.edu 37 10 35360127 35360127 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 35360127 35360127 G A SNP CUL2 ENST00000537177 human ensembl 74_37 -1 known missense c.176 p.S59L 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL2 HGNC ENSG00000108094 tier1 - - 41 0 0.00 20 23 53.49 CUL4B 0 genome.wustl.edu 37 X 119666201 119666201 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 119666201 119666201 A - DEL CUL4B ENST00000497616 human ensembl 74_37 -1 known rna NULL NULL 0.026 - - - no_errors CUL4B HGNC ENSG00000158290 tier1 9 0 0.00 6 8 57.14 CUX2 0 genome.wustl.edu 37 12 111749924 111749924 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 111749924 111749924 C T SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known missense c.1921 p.R641C 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 tier1 - - 25 0 0.00 17 8 32.00 CWC27 0 genome.wustl.edu 37 5 64181325 64181326 + Frame_Shift_Ins INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 64181325 64181326 - A INS CWC27 ENST00000381070 human ensembl 74_37 +1 known frame_shift_ins c.994_995 p.V335fs 1.000:1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors CWC27 HGNC ENSG00000153015 tier1 40 0 0.00 34 12 26.09 CWF19L1 0 genome.wustl.edu 37 10 101992924 101992925 + RNA DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 101992924 101992925 AA - DEL CWF19L1 ENST00000468709 human ensembl 74_37 -1 known rna NULL NULL 0.167:0.180 - - - no_errors CWF19L1 HGNC ENSG00000095485 tier1 15 0 0.00 9 7 43.75 CWF19L2 0 genome.wustl.edu 37 11 107200652 107200652 + Missense_Mutation SNP A A T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 107200652 107200652 A T SNP CWF19L2 ENST00000282251 human ensembl 74_37 -1 known missense c.2533 p.F845I 1.000 pfam_Cwf19-like_C_dom-2 pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L2 HGNC ENSG00000152404 tier1 - - 68 0 0.00 39 36 48.00 CWF19L2 0 genome.wustl.edu 37 11 107299560 107299560 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 107299560 107299560 T - DEL CWF19L2 ENST00000282251 human ensembl 74_37 -1 known frame_shift_del c.1398 p.E467fs 0.186 NULL pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L2 HGNC ENSG00000152404 tier1 115 0 0.00 60 40 40.00 CXADRP3 0 genome.wustl.edu 37 18 14478362 14478362 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 14478362 14478362 G A SNP CXADRP3 ENST00000581457 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CXADRP3 HGNC ENSG00000265766 tier1 - - 54 0 0.00 29 16 35.56 CXCL16 0 genome.wustl.edu 37 17 4637776 4637777 + Splice_Site INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 4637776 4637777 - A INS CXCL16 ENST00000293778 human ensembl 74_37 -1 known splice_site_ins c.822-3_4 e6-2 0.001:0.000 - - - no_errors CXCL16 HGNC ENSG00000161921 tier1 32 0 0.00 26 7 21.21 CXXC4 0 genome.wustl.edu 37 4 105393330 105393332 + RNA DEL TTT TTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 105393330 105393332 TTT - DEL CXXC4 ENST00000466963 human ensembl 74_37 -1 known rna NULL NULL 0.073:0.076:0.062 - - - no_errors CXXC4 HGNC ENSG00000168772 tier1 38 0 0.00 28 13 31.71 CYB5R3 0 genome.wustl.edu 37 22 43040443 43040443 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 43040443 43040443 G A SNP CYB5R3 ENST00000361740 human ensembl 74_37 -1 known missense c.73 p.R25C 0.025 NULL pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase - no_errors CYB5R3 HGNC ENSG00000100243 tier1 - - 66 0 0.00 42 21 33.33 CYFIP1 0 genome.wustl.edu 37 15 22945143 22945144 + Frame_Shift_Del DEL GC GC - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 GC GC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 22945143 22945144 GC - DEL CYFIP1 ENST00000313077 human ensembl 74_37 +1 known frame_shift_del c.1214_1215 p.H407fs 1.000:0.996 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 tier1 31 0 0.00 15 11 42.31 CYFIP2 0 genome.wustl.edu 37 5 156786063 156786063 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 156786063 156786063 G T SNP CYFIP2 ENST00000442283 human ensembl 74_37 +1 known missense c.577 p.G193W 1.000 pfam_Cytoplasmic_FMR1-int,superfamily_Chemokine_IL8-like_dom pfam_Cytoplasmic_FMR1-int,superfamily_Chemokine_IL8-like_dom - no_errors CYFIP2 HGNC ENSG00000055163 tier1 - - 84 0 0.00 76 4 5.00 CYGB 0 genome.wustl.edu 37 17 74524670 74524670 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 74524670 74524670 G A SNP CYGB ENST00000293230 human ensembl 74_37 -1 known missense c.563 p.S188L 0.879 NULL pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Globin_lamprey/hagfish,prints_Myoglobin - no_errors CYGB HGNC ENSG00000161544 tier1 - - 85 0 0.00 40 24 37.50 CYP11B2 0 genome.wustl.edu 37 8 143994741 143994741 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 143994741 143994741 C T SNP CYP11B2 ENST00000323110 human ensembl 74_37 -1 known missense c.1081 p.E361K 0.961 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP11B2 HGNC ENSG00000179142 tier1 rs202173105 - 79 0 0.00 52 22 29.73 CYP11B2 0 genome.wustl.edu 37 8 143995767 143995767 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 143995767 143995767 G A SNP CYP11B2 ENST00000323110 human ensembl 74_37 -1 known silent c.867 p.I289 0.972 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP11B2 HGNC ENSG00000179142 tier1 - - 76 0 0.00 68 25 26.88 CYP24A1 0 genome.wustl.edu 37 20 52782309 52782309 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 52782309 52782309 G T SNP CYP24A1 ENST00000216862 human ensembl 74_37 -1 known missense c.704 p.A235D 0.981 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP24A1 HGNC ENSG00000019186 tier1 - - 54 0 0.00 38 5 11.63 CYP2C9 0 genome.wustl.edu 37 10 96740985 96740985 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 96740985 96740985 G T SNP CYP2C9 ENST00000260682 human ensembl 74_37 +1 known missense c.1007 p.S336I 0.928 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C9 HGNC ENSG00000138109 92 0 0.00 76 4 5.00 CYP2U1 0 genome.wustl.edu 37 4 108866275 108866275 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 108866275 108866275 G A SNP CYP2U1 ENST00000332884 human ensembl 74_37 +1 known missense c.640 p.G214R 0.996 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like - no_errors CYP2U1 HGNC ENSG00000155016 tier1 - - 54 0 0.00 32 19 37.25 CYP46A1 0 genome.wustl.edu 37 14 100182232 100182232 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 100182232 100182232 G A SNP CYP46A1 ENST00000261835 human ensembl 74_37 +1 known missense c.779 p.R260H 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP46A1 HGNC ENSG00000036530 tier1 - - 64 0 0.00 35 27 43.55 CYP4Z1 0 genome.wustl.edu 37 1 47534379 47534379 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 47534379 47534379 C T SNP CYP4Z1 ENST00000334194 human ensembl 74_37 +1 known missense c.263 p.T88M 0.017 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4Z1 HGNC ENSG00000186160 tier1 - - 158 0 0.00 87 58 40.00 DAAM2 0 genome.wustl.edu 37 6 39869234 39869234 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 39869234 39869234 C T SNP DAAM2 ENST00000274867 human ensembl 74_37 +1 known missense c.2968 p.R990C 1.000 smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DAAM2 HGNC ENSG00000146122 tier1 - - 13 0 0.00 9 4 30.77 DAB2IP 0 genome.wustl.edu 37 9 124530759 124530759 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 124530759 124530759 G T SNP DAB2IP ENST00000408936 human ensembl 74_37 +1 known missense c.1746 p.E582D 1.000 superfamily_Rho_GTPase_activation_prot,smart_RasGAP pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 tier1 - - 45 0 0.00 46 4 8.00 DAOA-AS1 0 genome.wustl.edu 37 13 106118696 106118697 + RNA INS - - T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 106118696 106118697 - T INS DAOA-AS1 ENST00000448407 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors DAOA-AS1 HGNC ENSG00000232307 tier1 115 0 0.00 110 26 19.12 DAPK1 0 genome.wustl.edu 37 9 90321801 90321802 + Frame_Shift_Ins INS - - G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 90321801 90321802 - G INS DAPK1 ENST00000469640 human ensembl 74_37 +1 known frame_shift_ins c.3890_3891 p.Y1300fs 1.000:1.000 NULL pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 tier1 43 0 0.00 14 8 36.36 DBH 0 genome.wustl.edu 37 9 136507451 136507451 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 136507451 136507451 C T SNP DBH ENST00000393056 human ensembl 74_37 +1 known silent c.609 p.P203 0.007 superfamily_PHM/PNGase_F_dom pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors DBH HGNC ENSG00000123454 tier1 - - 85 0 0.00 43 34 44.16 DBX1 0 genome.wustl.edu 37 11 20177882 20177882 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 20177882 20177882 G A SNP DBX1 ENST00000227256 human ensembl 74_37 -1 known missense c.1027 p.R343W 0.583 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors DBX1 HGNC ENSG00000109851 tier1 - - 50 0 0.00 18 24 57.14 DCAF12L1 0 genome.wustl.edu 37 X 125686220 125686220 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 125686220 125686220 G A SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known silent c.372 p.D124 0.996 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 tier1 - - 48 0 0.00 10 31 75.61 DCAF4 0 genome.wustl.edu 37 14 73407001 73407001 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 73407001 73407001 C - DEL DCAF4 ENST00000358377 human ensembl 74_37 +1 known frame_shift_del c.267 p.L91fs 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4 HGNC ENSG00000119599 tier1 74 0 0.00 59 7 10.61 DCAF6 0 genome.wustl.edu 37 1 168032896 168032896 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 168032896 168032896 C T SNP DCAF6 ENST00000367840 human ensembl 74_37 +1 known missense c.2338 p.R780W 0.999 superfamily_WD40_repeat_dom,pfscan_IQ_motif_EF-hand-BS pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom - no_errors DCAF6 HGNC ENSG00000143164 tier1 - - 18 0 0.00 33 11 25.00 DCAF6 0 genome.wustl.edu 37 1 168034905 168034905 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 168034905 168034905 G A SNP DCAF6 ENST00000367840 human ensembl 74_37 +1 known silent c.2517 p.R839 0.993 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom - no_errors DCAF6 HGNC ENSG00000143164 tier1 - - 29 0 0.00 62 4 6.06 DCAF7 0 genome.wustl.edu 37 17 61667770 61667770 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 61667770 61667770 A - DEL DCAF7 ENST00000577702 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DCAF7 HGNC ENSG00000136485 tier1 89 0 0.00 50 32 39.02 DCAF8 0 genome.wustl.edu 37 1 160209917 160209917 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 160209917 160209917 C T SNP DCAF8 ENST00000608310 human ensembl 74_37 -1 known missense c.755 p.R252H 0.997 NULL pfam_Pex19,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8 HGNC ENSG00000132716 tier1 - - 59 0 0.00 35 17 32.69 DCAKD 0 genome.wustl.edu 37 17 43107517 43107518 + Frame_Shift_Ins INS - - G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 43107517 43107518 - G INS DCAKD ENST00000342350 human ensembl 74_37 -1 known frame_shift_ins c.347_346 p.L116fs 1.000:1.000 pfam_Depp_CoAkinase,superfamily_P-loop_NTPase,tigrfam_Depp_CoAkinase pfam_Depp_CoAkinase,superfamily_P-loop_NTPase,tigrfam_Depp_CoAkinase - no_errors DCAKD HGNC ENSG00000172992 tier1 124 0 0.00 86 45 34.35 DCHS2 0 genome.wustl.edu 37 4 155411314 155411314 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 155411314 155411314 G A SNP DCHS2 ENST00000339452 human ensembl 74_37 -1 known silent c.1194 p.R398 0.961 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 39 0 0.00 17 12 41.38 DCLK2 0 genome.wustl.edu 37 4 151177234 151177234 + Missense_Mutation SNP G G C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 151177234 151177234 G C SNP DCLK2 ENST00000302176 human ensembl 74_37 +1 known missense c.2187 p.R729S 0.010 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK2 HGNC ENSG00000170390 tier1 - - 54 0 0.00 40 29 42.03 DCLK3 0 genome.wustl.edu 37 3 36756896 36756896 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 36756896 36756896 G T SNP DCLK3 ENST00000416516 human ensembl 74_37 -1 known silent c.1870 p.R624 0.002 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DCLK3 HGNC ENSG00000163673 54 0 0.00 42 3 6.67 DCLRE1C 0 genome.wustl.edu 37 10 14951099 14951101 + In_Frame_Del DEL CTT CTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 14951099 14951101 CTT - DEL DCLRE1C ENST00000378278 human ensembl 74_37 -1 known in_frame_del c.1387_1385 p.E462in_frame_del 0.001:0.990:1.000 NULL pfam_DRMBL - no_errors DCLRE1C HGNC ENSG00000152457 tier1 56 0 0.00 30 12 28.57 DCP1A 0 genome.wustl.edu 37 3 53381515 53381517 + In_Frame_Del DEL CTC CTC - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 53381515 53381517 CTC - DEL DCP1A ENST00000607628 human ensembl 74_37 -1 known in_frame_del c.30_28 p.E10in_frame_del 1.000:1.000:1.000 pfam_DCP1 pfam_DCP1 - no_errors DCP1A HGNC ENSG00000162290 tier1 34 0 0.00 36 11 23.40 DCSTAMP 0 genome.wustl.edu 37 8 105367351 105367351 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 105367351 105367351 A - DEL DCSTAMP ENST00000297581 human ensembl 74_37 +1 known frame_shift_del c.1276 p.R428fs 0.229 superfamily_ABC1_TM_dom pfam_DC_STAMP-like,superfamily_ABC1_TM_dom - no_errors DCSTAMP HGNC ENSG00000164935 tier1 27 0 0.00 16 6 27.27 DCTN6 0 genome.wustl.edu 37 8 30036928 30036928 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 30036928 30036928 C A SNP DCTN6 ENST00000523666 human ensembl 74_37 +1 known missense c.199 p.P67T 0.999 NULL superfamily_Trimer_LpxA-like - no_errors DCTN6 HGNC ENSG00000104671 tier1 - - 74 0 0.00 81 23 21.70 DCUN1D5 0 genome.wustl.edu 37 11 102935036 102935036 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 102935036 102935036 G A SNP DCUN1D5 ENST00000260247 human ensembl 74_37 -1 known missense c.626 p.A209V 1.000 pfam_PONY_dom pfam_PONY_dom - no_errors DCUN1D5 HGNC ENSG00000137692 tier1 - - 23 0 0.00 20 11 35.48 DDAH1 0 genome.wustl.edu 37 1 85787205 85787205 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 85787205 85787205 G T SNP DDAH1 ENST00000284031 human ensembl 74_37 -1 known missense c.788 p.S263Y 1.000 pfam_Amidino_trans pfam_Amidino_trans - no_errors DDAH1 HGNC ENSG00000153904 tier1 - - 78 0 0.00 58 4 6.45 DDC 0 genome.wustl.edu 37 7 50544324 50544324 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 50544324 50544324 G A SNP DDC ENST00000357936 human ensembl 74_37 -1 known missense c.1039 p.R347W 1.000 pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC - no_errors DDC HGNC ENSG00000132437 11 0 0.00 1 3 75.00 DDHD1 0 genome.wustl.edu 37 14 53570518 53570518 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 53570518 53570518 G T SNP DDHD1 ENST00000323669 human ensembl 74_37 -1 known missense c.895 p.P299T 1.000 NULL pfam_DDHD,pfscan_DDHD - no_errors DDHD1 HGNC ENSG00000100523 tier1 - - 49 0 0.00 63 4 5.97 DDR2 0 genome.wustl.edu 37 1 162748376 162748376 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 162748376 162748376 T C SNP DDR2 ENST00000367921 human ensembl 74_37 +1 known missense c.2290 p.F764L 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC ENSG00000162733 tier1 - - 98 0 0.00 99 28 21.88 DDX19A 0 genome.wustl.edu 37 16 70405395 70405395 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 70405395 70405395 G T SNP DDX19A ENST00000302243 human ensembl 74_37 +1 known missense c.1304 p.R435M 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX19A HGNC ENSG00000168872 tier1 - - 32 0 0.00 14 15 51.72 DDX23 0 genome.wustl.edu 37 12 49230537 49230537 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 49230537 49230537 G T SNP DDX23 ENST00000308025 human ensembl 74_37 -1 known missense c.1051 p.R351S 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX23 HGNC ENSG00000174243 45 0 0.00 43 3 6.52 DDX3X 0 genome.wustl.edu 37 X 41192965 41192965 + RNA SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 41192965 41192965 A G SNP DDX3X ENST00000478993 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors DDX3X HGNC ENSG00000215301 tier1 - - 11 0 0.00 3 5 62.50 DDX3X 0 genome.wustl.edu 37 X 41201775 41201775 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 41201775 41201775 C T SNP DDX3X ENST00000399959 human ensembl 74_37 +1 known silent c.312 p.Y104 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3X HGNC ENSG00000215301 tier1 - - 48 0 0.00 12 37 75.51 DDX3Y 0 genome.wustl.edu 37 Y 15026659 15026661 + RNA DEL TTT TTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 Y 15026659 15026661 TTT - DEL DDX3Y ENST00000472510 human ensembl 74_37 +1 putative rna NULL NULL 0.001:0.000:0.000 - - - no_errors DDX3Y HGNC ENSG00000067048 tier1 21 0 0.00 6 7 53.85 DDX5 0 genome.wustl.edu 37 17 62496720 62496720 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 62496720 62496720 G T SNP DDX5 ENST00000225792 human ensembl 74_37 -1 known missense c.1388 p.A463D 1.000 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX5 HGNC ENSG00000108654 tier1 - - 67 0 0.00 70 4 5.41 DDX59 0 genome.wustl.edu 37 1 200619669 200619669 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 200619669 200619669 G A SNP DDX59 ENST00000331314 human ensembl 74_37 -1 known missense c.1198 p.H400Y 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX59 HGNC ENSG00000118197 tier1 - - 63 0 0.00 59 27 31.03 DEDD 0 genome.wustl.edu 37 1 161091815 161091818 + RNA DEL AAAA AAAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 161091815 161091818 AAAA - DEL DEDD ENST00000486041 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000:1.000:1.000 - - - no_errors DEDD HGNC ENSG00000158796 tier1 11 0 0.00 14 6 30.00 DEDD 0 genome.wustl.edu 37 1 161092920 161092920 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 161092920 161092920 G T SNP DEDD ENST00000368005 human ensembl 74_37 -1 known missense c.525 p.S175R 0.987 NULL pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED - no_errors DEDD HGNC ENSG00000158796 tier1 - - 52 0 0.00 69 4 5.48 DEDD2 0 genome.wustl.edu 37 19 42713965 42713965 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 42713965 42713965 C T SNP DEDD2 ENST00000595337 human ensembl 74_37 -1 known missense c.476 p.R159Q 1.000 NULL pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED - no_errors DEDD2 HGNC ENSG00000160570 tier1 - - 44 0 0.00 27 25 48.08 DEFB124 0 genome.wustl.edu 37 20 30060721 30060722 + RNA DEL CA CA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 30060721 30060722 CA - DEL DEFB124 ENST00000481595 human ensembl 74_37 -1 known rna NULL NULL 0.435:0.465 - - - no_errors DEFB124 HGNC ENSG00000180383 tier1 15 0 0.00 8 4 33.33 DENND2C 0 genome.wustl.edu 37 1 115127989 115127989 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 115127989 115127989 A - DEL DENND2C ENST00000495031 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DENND2C HGNC ENSG00000175984 tier1 10 0 0.00 9 4 30.77 DENND4A 0 genome.wustl.edu 37 15 66007940 66007940 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 66007940 66007940 C T SNP DENND4A ENST00000443035 human ensembl 74_37 -1 known missense c.1829 p.R610Q 1.000 pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC ENSG00000174485 tier1 - - 42 0 0.00 27 22 44.90 DENND5B 0 genome.wustl.edu 37 12 31586118 31586118 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 31586118 31586118 G T SNP DENND5B ENST00000306833 human ensembl 74_37 -1 known missense c.2182 p.H728N 1.000 NULL pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run - no_errors DENND5B HGNC ENSG00000170456 40 0 0.00 69 4 5.48 DENND6B 0 genome.wustl.edu 37 22 50751527 50751528 + Frame_Shift_Ins INS - - G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 50751527 50751528 - G INS DENND6B ENST00000413817 human ensembl 74_37 -1 known frame_shift_ins c.1358_1357 p.Q453fs 1.000:1.000 pfam_Afi1_N pfam_Afi1_N,pfam_DENN_dom,pfam_ABL9/DENND6_dom - no_errors DENND6B HGNC ENSG00000205593 tier1 54 0 0.00 27 9 25.00 DEPDC5 0 genome.wustl.edu 37 22 32271244 32271244 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 32271244 32271244 C T SNP DEPDC5 ENST00000494060 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DEPDC5 HGNC ENSG00000100150 tier1 - - 43 0 0.00 17 11 39.29 DFFB 0 genome.wustl.edu 37 1 3782236 3782236 + Silent SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 3782236 3782236 C A SNP DFFB ENST00000339350 human ensembl 74_37 +1 known silent c.271 p.R91 0.000 NULL pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom - no_errors DFFB HGNC ENSG00000169598 tier1 - - 30 0 0.00 21 18 46.15 DGKI 0 genome.wustl.edu 37 7 137257514 137257514 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 137257514 137257514 G T SNP DGKI ENST00000288490 human ensembl 74_37 -1 known missense c.1832 p.P611H 1.000 pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 28 0 0.00 35 3 7.89 DHRS4L1 0 genome.wustl.edu 37 14 24520063 24520063 + RNA SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 24520063 24520063 G T SNP DHRS4L1 ENST00000558293 human ensembl 74_37 +1 known rna NULL NULL 0.252 - - - no_errors RP11-468E2.9 Clone_based_vega_gene ENSG00000225766 tier1 - - 88 0 0.00 55 4 6.78 DHX16 0 genome.wustl.edu 37 6 30638221 30638221 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 30638221 30638221 C T SNP DHX16 ENST00000376442 human ensembl 74_37 -1 known missense c.632 p.R211H 1.000 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX16 HGNC ENSG00000204560 tier1 rs200028840 - 24 0 0.00 21 16 43.24 DHX34 0 genome.wustl.edu 37 19 47884244 47884244 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 47884244 47884244 C A SNP DHX34 ENST00000328771 human ensembl 74_37 +1 known missense c.3154 p.L1052I 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX34 HGNC ENSG00000134815 tier1 - - 28 0 0.00 13 12 48.00 DHX37 0 genome.wustl.edu 37 12 125438447 125438447 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 125438447 125438447 G A SNP DHX37 ENST00000308736 human ensembl 74_37 -1 known missense c.2674 p.R892W 0.997 superfamily_P-loop_NTPase pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX37 HGNC ENSG00000150990 tier1 - - 36 0 0.00 18 17 48.57 DHX38 0 genome.wustl.edu 37 16 72141562 72141562 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 72141562 72141562 G A SNP DHX38 ENST00000268482 human ensembl 74_37 +1 known missense c.2828 p.G943E 1.000 pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX38 HGNC ENSG00000140829 tier1 - - 103 0 0.00 57 37 39.36 DHX57 0 genome.wustl.edu 37 2 39085933 39085933 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 39085933 39085933 G T SNP DHX57 ENST00000295373 human ensembl 74_37 -1 known missense c.1457 p.P486H 0.838 NULL pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_P-loop_NTPase,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX57 HGNC ENSG00000163214 tier1 - - 34 0 0.00 27 3 10.00 DIEXF 0 genome.wustl.edu 37 1 210006627 210006627 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 210006627 210006627 C T SNP DIEXF ENST00000491415 human ensembl 74_37 +1 known silent c.486 p.H162 0.826 NULL pfam_Digest_organ_expansion_fac-prd,superfamily_P-loop_NTPase - no_errors DIEXF HGNC ENSG00000117597 tier1 - - 78 0 0.00 60 29 32.58 DIO3OS 0 genome.wustl.edu 37 14 102024806 102024806 + RNA DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 102024806 102024806 G - DEL DIO3OS ENST00000554735 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DIO3OS HGNC ENSG00000258498 tier1 36 0 0.00 24 12 33.33 DISC1 0 genome.wustl.edu 37 1 231858326 231858326 + Silent SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 231858326 231858326 T C SNP DISC1 ENST00000317586 human ensembl 74_37 +1 known silent c.1089 p.H363 0.045 NULL NULL - no_errors DISC1 HGNC ENSG00000162946 tier1 - - 70 0 0.00 93 29 23.77 DKFZP434H168 0 genome.wustl.edu 37 16 56226638 56226639 + RNA INS - - CACA TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 56226638 56226639 - CACA INS DKFZP434H168 ENST00000567381 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.271 - - - no_errors CTD-2050B12.2 Clone_based_vega_gene ENSG00000261439 tier1 51 0 0.00 41 9 18.00 DLC1 0 genome.wustl.edu 37 8 12973135 12973135 + Silent SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 12973135 12973135 T C SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known silent c.1380 p.L460 0.080 pfam_SAM_2 pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 tier1 - - 36 0 0.00 29 10 25.64 DLG2 0 genome.wustl.edu 37 11 83182726 83182726 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 83182726 83182726 G A SNP DLG2 ENST00000376104 human ensembl 74_37 -1 known missense c.2389 p.R797W 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_Guanylate_kin-like pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG2 HGNC ENSG00000150672 tier1 - - 34 0 0.00 17 12 41.38 DLG2 0 genome.wustl.edu 37 11 83770365 83770365 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 83770365 83770365 G T SNP DLG2 ENST00000376104 human ensembl 74_37 -1 known silent c.912 p.G304 0.696 pfam_PDZ,superfamily_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG2 HGNC ENSG00000150672 tier1 - - 35 0 0.00 24 4 14.29 DLG4 0 genome.wustl.edu 37 17 7095249 7095249 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 7095249 7095249 C T SNP DLG4 ENST00000399510 human ensembl 74_37 -1 known missense c.2068 p.A690T 1.000 pirsf_M-assoc_guanylate_kinase,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pirsf_M-assoc_guanylate_kinase,pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,pfam_L27_1,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG4 HGNC ENSG00000132535 tier1 - - 39 0 0.00 16 10 38.46 DLGAP4 0 genome.wustl.edu 37 20 35155512 35155512 + RNA SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 35155512 35155512 A G SNP DLGAP4 ENST00000475894 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors DLGAP4 HGNC ENSG00000080845 tier1 - - 26 0 0.00 27 12 30.77 DLGAP4 0 genome.wustl.edu 37 20 35156540 35156543 + RNA DEL TTTT TTTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTTT TTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 35156540 35156543 TTTT - DEL DLGAP4 ENST00000475894 human ensembl 74_37 +1 known rna NULL NULL 0.010:0.004:0.002:0.003 - - - no_errors DLGAP4 HGNC ENSG00000080845 tier1 47 0 0.00 33 15 31.25 DLGAP5 0 genome.wustl.edu 37 14 55625371 55625371 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 55625371 55625371 T - DEL DLGAP5 ENST00000247191 human ensembl 74_37 -1 known frame_shift_del c.1742 p.N581fs 0.680 pfam_GKAP pfam_GKAP - no_errors DLGAP5 HGNC ENSG00000126787 tier1 67 0 0.00 50 26 34.21 DLL1 0 genome.wustl.edu 37 6 170592659 170592659 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 170592659 170592659 G A SNP DLL1 ENST00000366756 human ensembl 74_37 -1 known missense c.1708 p.R570W 0.993 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL1 HGNC ENSG00000198719 tier1 - - 64 0 0.00 26 14 35.00 DLX6 0 genome.wustl.edu 37 7 96635421 96635423 + In_Frame_Del DEL GCC GCC - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 96635421 96635423 GCC - DEL DLX6 ENST00000518156 human ensembl 74_37 +1 known in_frame_del c.132_134 p.P48in_frame_del 1.000:1.000:0.992 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX6 HGNC ENSG00000006377 tier1 49 0 0.00 49 7 12.50 DLX6 0 genome.wustl.edu 37 7 96635545 96635547 + In_Frame_Del DEL CAC CAC - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 CAC CAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 96635545 96635547 CAC - DEL DLX6 ENST00000518156 human ensembl 74_37 +1 known in_frame_del c.256_258 p.H89in_frame_del 0.872:0.883:0.914 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX6 HGNC ENSG00000006377 tier1 8 0 0.00 4 3 42.86 DMC1 0 genome.wustl.edu 37 22 38962674 38962674 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 38962674 38962674 G A SNP DMC1 ENST00000216024 human ensembl 74_37 -1 known missense c.164 p.T55I 1.000 superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like,tigrfam_DMC1_rcmbase pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,pfam_Circ_KaiC/RadA,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,pfscan_RecA_monomer-monomer_interface,tigrfam_DMC1_rcmbase - no_errors DMC1 HGNC ENSG00000100206 tier1 - - 87 0 0.00 46 25 35.21 DMXL2 0 genome.wustl.edu 37 15 51787281 51787281 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 51787281 51787281 G T SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.4723 p.L1575I 0.939 pfam_Rav1p_C pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 tier1 - - 26 0 0.00 15 10 40.00 DMXL2 0 genome.wustl.edu 37 15 51860757 51860758 + Splice_Site INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 51860757 51860758 - A INS DMXL2 ENST00000543779 human ensembl 74_37 -1 known splice_site_ins c.214-3_214-2 e3-2 1.000:0.998 - - - no_errors DMXL2 HGNC ENSG00000104093 tier1 29 0 0.00 22 15 40.54 DNAH1 0 genome.wustl.edu 37 3 52431015 52431015 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 52431015 52431015 C T SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known silent c.11742 p.S3914 0.002 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 tier1 - - 44 0 0.00 11 14 56.00 DNAH10 0 genome.wustl.edu 37 12 124298415 124298415 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 124298415 124298415 G T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.3382 p.D1128Y 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 tier1 - - 61 0 0.00 61 12 16.44 DNAH10 0 genome.wustl.edu 37 12 124335572 124335572 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 124335572 124335572 G A SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known silent c.5886 p.L1962 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 tier1 - - 40 0 0.00 24 15 38.46 DNAH11 0 genome.wustl.edu 37 7 21857862 21857862 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 21857862 21857862 G T SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.10617 p.L3539F 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 tier1 - - 41 0 0.00 46 6 11.54 DNAH14 0 genome.wustl.edu 37 1 225230734 225230735 + Frame_Shift_Ins INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 225230734 225230735 - A INS DNAH14 ENST00000430092 human ensembl 74_37 +1 known frame_shift_ins c.1686_1687 p.H564fs 0.000:0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 tier1 38 0 0.00 41 22 34.92 DNAH17 0 genome.wustl.edu 37 17 76491157 76491157 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 76491157 76491157 C T SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.5884 p.D1962N 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 tier1 - - 37 0 0.00 14 15 51.72 DNAH3 0 genome.wustl.edu 37 16 20952745 20952745 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 20952745 20952745 G T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.11632 p.Q3878K 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 tier1 - - 72 0 0.00 43 5 10.42 DNAH5 0 genome.wustl.edu 37 5 13751302 13751302 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 13751302 13751302 G T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.11096 p.P3699H 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 121 0 0.00 166 44 20.95 DNAH7 0 genome.wustl.edu 37 2 196602560 196602560 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 196602560 196602560 A - DEL DNAH7 ENST00000484183 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors DNAH7 HGNC ENSG00000118997 tier1 14 0 0.00 13 6 31.58 DNAH9 0 genome.wustl.edu 37 17 11738145 11738145 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 11738145 11738145 G T SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.9437 p.C3146F 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 26 0 0.00 37 3 7.50 DNAJA1 0 genome.wustl.edu 37 9 33030485 33030485 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 33030485 33030485 G T SNP DNAJA1 ENST00000330899 human ensembl 74_37 +1 known missense c.463 p.G155C 1.000 pfam_HSP_DnaJ_Cys-rich_dom,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,pfscan_HSP_DnaJ_Cys-rich_dom pfam_DnaJ_C,pfam_DnaJ_domain,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain - no_errors DNAJA1 HGNC ENSG00000086061 tier1 - - 25 0 0.00 28 15 34.88 DNAJA1 0 genome.wustl.edu 37 9 33037063 33037063 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 33037063 33037063 C T SNP DNAJA1 ENST00000330899 human ensembl 74_37 +1 known missense c.925 p.P309S 1.000 pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_C,pfam_DnaJ_domain,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain - no_errors DNAJA1 HGNC ENSG00000086061 tier1 - - 76 0 0.00 61 7 10.29 DNAJB2 0 genome.wustl.edu 37 2 220149370 220149370 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 220149370 220149370 G T SNP DNAJB2 ENST00000336576 human ensembl 74_37 +1 known silent c.636 p.L212 1.000 smart_Ubiquitin-int_motif pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB2 HGNC ENSG00000135924 tier1 - - 80 0 0.00 58 4 6.45 DNAJC11 0 genome.wustl.edu 37 1 6696231 6696231 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 6696231 6696231 C T SNP DNAJC11 ENST00000377577 human ensembl 74_37 -1 known missense c.1600 p.V534I 0.999 pfam_DnaJ-like_C11_C pfam_DnaJ-like_C11_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC11 HGNC ENSG00000007923 tier1 - - 42 0 0.00 41 4 8.89 DNAJC16 0 genome.wustl.edu 37 1 15895341 15895341 + RNA SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 15895341 15895341 A G SNP DNAJC16 ENST00000483270 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors DNAJC16 HGNC ENSG00000116138 tier1 - - 37 0 0.00 13 11 45.83 DNAJC21 0 genome.wustl.edu 37 5 34949704 34949704 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 34949704 34949704 A - DEL DNAJC21 ENST00000382021 human ensembl 74_37 +1 known frame_shift_del c.1242 p.K416fs 0.000 NULL pfam_DnaJ_domain,pfam_Znf_C2H2_jaz,superfamily_DnaJ_domain,smart_DnaJ_domain,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC21 HGNC ENSG00000168724 tier1 109 0 0.00 170 47 21.66 DNAJC27 0 genome.wustl.edu 37 2 25180754 25180754 + Nonsense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 25180754 25180754 C T SNP DNAJC27 ENST00000264711 human ensembl 74_37 -1 known nonsense c.330 p.W110* 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,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_DnaJ_domain,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_DnaJ_domain,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_Small_GTPase,prints_DnaJ_domain,tigrfam_Small_GTP-bd_dom - no_errors DNAJC27 HGNC ENSG00000115137 tier1 - - 34 0 0.00 19 13 40.62 DNLZ 0 genome.wustl.edu 37 9 139257455 139257455 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 139257455 139257455 G T SNP DNLZ ENST00000371738 human ensembl 74_37 -1 known missense c.354 p.D118E 1.000 pfam_Znf_DNL-typ pfam_Znf_DNL-typ - no_errors DNLZ HGNC ENSG00000213221 tier1 - - 74 0 0.00 68 4 5.56 DNM1 0 genome.wustl.edu 37 9 131016963 131016963 + Silent SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 131016963 131016963 T C SNP DNM1 ENST00000372923 human ensembl 74_37 +1 known silent c.2565 p.P855 1.000 NULL pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM1 HGNC ENSG00000106976 tier1 - - 58 0 0.00 44 24 35.29 DNM1 0 genome.wustl.edu 37 9 131013112 131013112 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 131013112 131013112 G 0 DEL DNM1 ENST00000372923 human ensembl 74_37 +1 known frame_shift_del c.2427 p.A812fs 1.000 NULL pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM1 HGNC ENSG00000106976 10 0 0.00 7 3 30.00 DNM1P46 0 genome.wustl.edu 37 15 100330968 100330969 + RNA DEL AC AC - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 100330968 100330969 AC - DEL DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 0.008:0.009 - - - no_errors DNM1P46 HGNC ENSG00000182397 tier1 16 0 0.00 11 6 35.29 DNM1P51 0 genome.wustl.edu 37 15 84953251 84953251 + RNA SNP T T A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 84953251 84953251 T A SNP DNM1P51 ENST00000558801 human ensembl 74_37 -1 known rna NULL NULL 0.055 - - - no_errors DNM1P51 HGNC ENSG00000235370 tier1 - - 50 0 0.00 34 16 32.00 DNM1P51 0 genome.wustl.edu 37 15 84957359 84957359 + RNA SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 84957359 84957359 T C SNP DNM1P51 ENST00000558801 human ensembl 74_37 -1 known rna NULL NULL 0.953 - - - no_errors DNM1P51 HGNC ENSG00000235370 tier1 - - 205 0 0.00 108 27 20.00 DNM1P51 0 genome.wustl.edu 37 15 84957408 84957408 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 84957408 84957408 C T SNP DNM1P51 ENST00000558801 human ensembl 74_37 -1 known rna NULL NULL 0.868 - - - no_errors DNM1P51 HGNC ENSG00000235370 tier1 - - 251 0 0.00 129 27 17.31 DNM1P51 0 genome.wustl.edu 37 15 84957409 84957409 + RNA SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 84957409 84957409 A G SNP DNM1P51 ENST00000558801 human ensembl 74_37 -1 known rna NULL NULL 0.867 - - - no_errors DNM1P51 HGNC ENSG00000235370 tier1 - - 251 0 0.00 130 29 18.24 DNM1P51 0 genome.wustl.edu 37 15 84957430 84957430 + RNA SNP G G C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 84957430 84957430 G C SNP DNM1P51 ENST00000558801 human ensembl 74_37 -1 known rna NULL NULL 0.977 - - - no_errors DNM1P51 HGNC ENSG00000235370 tier1 - - 270 0 0.00 136 62 31.31 DNMT3A 0 genome.wustl.edu 37 2 25505431 25505431 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 25505431 25505431 C - DEL DNMT3A ENST00000264709 human ensembl 74_37 -1 known frame_shift_del c.327 p.Q110fs 0.978 NULL pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3A HGNC ENSG00000119772 tier1 49 0 0.00 27 11 28.95 DNMT3B 0 genome.wustl.edu 37 20 31384650 31384651 + Frame_Shift_Ins INS - - G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 31384650 31384651 - G INS DNMT3B ENST00000328111 human ensembl 74_37 +1 known frame_shift_ins c.1352_1353 p.L454fs 1.000:1.000 NULL pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3B HGNC ENSG00000088305 tier1 52 0 0.00 33 21 38.89 DNMT3L 0 genome.wustl.edu 37 21 45666415 45666417 + In_Frame_Del DEL TTC TTC - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 45666415 45666417 TTC - DEL DNMT3L ENST00000270172 human ensembl 74_37 -1 known in_frame_del c.1029_1027 p.E343in_frame_del 0.000:0.000:0.001 NULL superfamily_Znf_FYVE_PHD - no_errors DNMT3L HGNC ENSG00000142182 tier1 57 0 0.00 47 20 29.85 DOC2A 0 genome.wustl.edu 37 16 30021446 30021446 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 30021446 30021446 G T SNP DOC2A ENST00000350119 human ensembl 74_37 -1 known missense c.98 p.S33Y 1.000 pirsf_Doc2 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Doc2,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors DOC2A HGNC ENSG00000149927 tier1 - - 48 0 0.00 35 5 12.50 DOCK10 0 genome.wustl.edu 37 2 225781494 225781494 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 225781494 225781494 G T SNP DOCK10 ENST00000258390 human ensembl 74_37 -1 known missense c.251 p.T84K 0.994 pfam_DOCK_C/D_N pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 tier1 - - 60 0 0.00 64 4 5.88 DOCK3 0 genome.wustl.edu 37 3 51352461 51352461 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 51352461 51352461 G T SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.3304 p.V1102L 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 tier1 - - 44 0 0.00 38 4 9.52 DOCK3 0 genome.wustl.edu 37 3 51417604 51417604 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 51417604 51417604 C - DEL DOCK3 ENST00000266037 human ensembl 74_37 +1 known frame_shift_del c.5549 p.P1852fs 0.115 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 tier1 63 0 0.00 31 28 47.46 DOCK5 0 genome.wustl.edu 37 8 25230154 25230154 + Nonsense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 25230154 25230154 G T SNP DOCK5 ENST00000276440 human ensembl 74_37 +1 known nonsense c.3604 p.E1202* 1.000 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 ENSG00000147459 tier1 - - 68 0 0.00 73 4 5.19 DOCK5 0 genome.wustl.edu 37 8 25240190 25240190 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 25240190 25240190 A - DEL DOCK5 ENST00000276440 human ensembl 74_37 +1 known frame_shift_del c.4027 p.R1345fs 1.000 NULL 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 ENSG00000147459 tier1 47 0 0.00 43 22 33.85 DOCK7 0 genome.wustl.edu 37 1 62941104 62941104 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 62941104 62941104 A - DEL DOCK7 ENST00000467758 human ensembl 74_37 -1 known rna NULL NULL 0.057 - - - no_errors DOCK7 HGNC ENSG00000116641 tier1 13 0 0.00 5 13 72.22 DOCK9 0 genome.wustl.edu 37 13 99502312 99502312 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 99502312 99502312 A - DEL DOCK9 ENST00000339416 human ensembl 74_37 -1 known frame_shift_del c.4005 p.F1335fs 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 tier1 27 0 0.00 46 12 20.69 DOK6 0 genome.wustl.edu 37 18 67345063 67345063 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 67345063 67345063 C T SNP DOK6 ENST00000382713 human ensembl 74_37 +1 known missense c.383 p.A128V 1.000 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK6 HGNC ENSG00000206052 tier1 - - 80 0 0.00 54 38 40.86 DOT1L 0 genome.wustl.edu 37 19 2226760 2226760 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 2226760 2226760 C T SNP DOT1L ENST00000398665 human ensembl 74_37 +1 known missense c.4240 p.R1414W 0.989 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 18 0 0.00 8 5 38.46 DPAGT1 0 genome.wustl.edu 37 11 118969143 118969143 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 118969143 118969143 A - DEL DPAGT1 ENST00000354202 human ensembl 74_37 -1 known frame_shift_del c.698 p.F233fs 1.000 pfam_Glycosyl_transferase_4 pfam_Glycosyl_transferase_4 - no_errors DPAGT1 HGNC ENSG00000172269 tier1 47 0 0.00 38 18 32.14 DPH2 0 genome.wustl.edu 37 1 44435689 44435689 + RNA SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 44435689 44435689 A G SNP DPH2 ENST00000471934 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DPH2 HGNC ENSG00000132768 tier1 - - 30 0 0.00 15 12 44.44 DPP7 0 genome.wustl.edu 37 9 140006327 140006327 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 140006327 140006327 C - DEL DPP7 ENST00000371579 human ensembl 74_37 -1 known frame_shift_del c.1205 p.G402fs 0.000 pfam_Peptidase_S28 pfam_Peptidase_S28,pfam_AB_hydrolase_1 - no_errors DPP7 HGNC ENSG00000176978 tier1 43 0 0.00 11 10 47.62 DPY19L2 0 genome.wustl.edu 37 12 64062105 64062105 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 64062105 64062105 G A SNP DPY19L2 ENST00000324472 human ensembl 74_37 -1 known silent c.69 p.R23 0.839 NULL pfam_Dpy-19 - no_errors DPY19L2 HGNC ENSG00000177990 tier1 - - 53 0 0.00 16 20 55.56 DPY19L2P1 0 genome.wustl.edu 37 7 35131548 35131548 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 35131548 35131548 G A SNP DPY19L2P1 ENST00000436258 human ensembl 74_37 -1 known rna NULL NULL 0.985 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 tier1 - - 87 0 0.00 53 16 23.19 DSC1 0 genome.wustl.edu 37 18 28711575 28711575 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 28711575 28711575 G T SNP DSC1 ENST00000257198 human ensembl 74_37 -1 known silent c.2469 p.T823 0.970 pfam_Cadherin_cytoplasmic-dom,prints_Cadherin/Desmocollin pfam_Cadherin,pfam_Cadherin_pro_dom,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin/Desmocollin,prints_Cadherin,prints_Desmosomal_cadherin - no_errors DSC1 HGNC ENSG00000134765 tier1 - - 94 0 0.00 61 43 41.35 DSG4 0 genome.wustl.edu 37 18 28993367 28993367 + Missense_Mutation SNP A A C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 28993367 28993367 A C SNP DSG4 ENST00000359747 human ensembl 74_37 +1 known missense c.2989 p.S997R 0.004 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG4 HGNC ENSG00000175065 tier1 - - 71 0 0.00 51 33 39.29 DST 0 genome.wustl.edu 37 6 56473882 56473882 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 56473882 56473882 C T SNP DST ENST00000370754 human ensembl 74_37 -1 known silent c.5445 p.A1815 0.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 44 0 0.00 29 26 47.27 DST 0 genome.wustl.edu 37 6 56819248 56819248 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 56819248 56819248 C - DEL DST ENST00000370754 human ensembl 74_37 -1 known frame_shift_del c.138 p.R46fs 1.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 82 0 0.00 46 15 24.59 DSTYK 0 genome.wustl.edu 37 1 205117339 205117339 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 205117339 205117339 G A SNP DSTYK ENST00000367162 human ensembl 74_37 -1 known missense c.2596 p.R866W 0.999 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DSTYK HGNC ENSG00000133059 tier1 - - 29 0 0.00 42 11 20.75 DTL 0 genome.wustl.edu 37 1 212254045 212254045 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 212254045 212254045 C T SNP DTL ENST00000366991 human ensembl 74_37 +1 known missense c.1214 p.T405M 0.353 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DTL HGNC ENSG00000143476 tier1 - - 79 0 0.00 81 20 19.80 DTNBP1 0 genome.wustl.edu 37 6 15523213 15523213 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 15523213 15523213 T C SNP DTNBP1 ENST00000355917 human ensembl 74_37 -1 known missense c.1052 p.D351G 1.000 NULL pfam_Dysbindin,superfamily_Trp_syn_b_sub_like_PLP_eny_SF - no_errors DTNBP1 HGNC ENSG00000047579 tier1 - - 42 0 0.00 24 10 29.41 DUOX2 0 genome.wustl.edu 37 15 45405204 45405204 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 45405204 45405204 G A SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known silent c.141 p.H47 0.950 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 tier1 - - 42 0 0.00 15 20 57.14 DUSP10 0 genome.wustl.edu 37 1 221874930 221874931 + RNA DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 221874930 221874931 AA - DEL DUSP10 ENST00000468085 human ensembl 74_37 -1 known rna NULL NULL 0.966:0.957 - - - no_errors DUSP10 HGNC ENSG00000143507 tier1 11 0 0.00 24 8 25.00 DUSP10 0 genome.wustl.edu 37 1 221875662 221875663 + RNA DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 221875662 221875663 AA - DEL DUSP10 ENST00000468085 human ensembl 74_37 -1 known rna NULL NULL 0.040:0.067 - - - no_errors DUSP10 HGNC ENSG00000143507 tier1 23 0 0.00 18 6 25.00 DUSP5 0 genome.wustl.edu 37 10 112266859 112266859 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 112266859 112266859 A G SNP DUSP5 ENST00000369583 human ensembl 74_37 +1 known missense c.695 p.D232G 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP5 HGNC ENSG00000138166 tier1 - - 51 0 0.00 24 13 35.14 DVL2 0 genome.wustl.edu 37 17 7129207 7129207 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 7129207 7129207 C T SNP DVL2 ENST00000005340 human ensembl 74_37 -1 known missense c.2188 p.E730K 1.000 NULL pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_2,prints_Dishevelled_fam - no_errors DVL2 HGNC ENSG00000004975 tier1 - - 73 0 0.00 34 21 38.18 DYNC1H1 0 genome.wustl.edu 37 14 102494139 102494139 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 102494139 102494139 C T SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.9232 p.R3078W 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 tier1 - - 67 0 0.00 28 27 49.09 DYNC2H1 0 genome.wustl.edu 37 11 103006263 103006263 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 103006263 103006263 T C SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.2245 p.W749R 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 47 0 0.00 33 19 36.54 DYNLT1 0 genome.wustl.edu 37 6 159058760 159058760 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 159058760 159058760 A - DEL DYNLT1 ENST00000367085 human ensembl 74_37 -1 known frame_shift_del c.236 p.L79fs 0.000 NULL pfam_Tctex - no_errors DYNLT1 HGNC ENSG00000146425 tier1 25 0 0.00 7 10 58.82 DYRK1A 0 genome.wustl.edu 37 21 38877824 38877824 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 38877824 38877824 T C SNP DYRK1A ENST00000398960 human ensembl 74_37 +1 known missense c.1478 p.V493A 0.996 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK1A HGNC ENSG00000157540 37 0 0.00 23 2 8.00 DZIP1L 0 genome.wustl.edu 37 3 137822704 137822704 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 137822704 137822704 C T SNP DZIP1L ENST00000327532 human ensembl 74_37 -1 known missense c.110 p.R37H 1.000 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 tier1 - - 60 0 0.00 50 4 7.41 EAF1-AS1 0 genome.wustl.edu 37 3 15480599 15480599 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 15480599 15480599 T - DEL EAF1-AS1 ENST00000494875 human ensembl 74_37 -1 known rna NULL NULL 0.925 - - - no_errors EAF1-AS1 HGNC ENSG00000249786 tier1 28 0 0.00 34 7 17.07 EAPP 0 genome.wustl.edu 37 14 34998660 34998660 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 34998660 34998660 T - DEL EAPP ENST00000250454 human ensembl 74_37 -1 known frame_shift_del c.374 p.K125fs 1.000 NULL pfam_E2F-assoc_phosphoprotein - no_errors EAPP HGNC ENSG00000129518 tier1 63 0 0.00 46 15 24.59 EBF3 0 genome.wustl.edu 37 10 131761680 131761680 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 131761680 131761680 G A SNP EBF3 ENST00000355311 human ensembl 74_37 -1 known missense c.242 p.P81L 1.000 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF3 HGNC ENSG00000108001 tier1 - - 103 0 0.00 58 25 30.12 EBF3 0 genome.wustl.edu 37 10 131761704 131761704 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 131761704 131761704 G A SNP EBF3 ENST00000355311 human ensembl 74_37 -1 known missense c.218 p.A73V 1.000 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF3 HGNC ENSG00000108001 99 0 0.00 75 4 5.06 EBI3 0 genome.wustl.edu 37 19 4233255 4233255 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 4233255 4233255 C - DEL EBI3 ENST00000221847 human ensembl 74_37 +1 known frame_shift_del c.330 p.W112fs 0.004 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors EBI3 HGNC ENSG00000105246 tier1 104 0 0.00 66 7 9.59 ECE1 0 genome.wustl.edu 37 1 21554464 21554464 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 21554464 21554464 C T SNP ECE1 ENST00000374893 human ensembl 74_37 -1 known missense c.1741 p.G581R 1.000 pfam_Peptidase_M13_C,prints_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECE1 HGNC ENSG00000117298 tier1 - - 37 0 0.00 28 14 33.33 ECE1 0 genome.wustl.edu 37 1 21586835 21586835 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 21586835 21586835 A G SNP ECE1 ENST00000374893 human ensembl 74_37 -1 known missense c.544 p.Y182H 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECE1 HGNC ENSG00000117298 tier1 - - 49 0 0.00 39 6 13.33 ECE2 0 genome.wustl.edu 37 3 184001715 184001715 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 184001715 184001715 G A SNP ECE2 ENST00000402825 human ensembl 74_37 +1 known missense c.1313 p.R438H 0.999 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC ENSG00000145194 tier1 - - 40 0 0.00 50 10 16.67 ECEL1 0 genome.wustl.edu 37 2 233350693 233350693 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 233350693 233350693 G A SNP ECEL1 ENST00000304546 human ensembl 74_37 -1 known missense c.671 p.A224V 0.003 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECEL1 HGNC ENSG00000171551 tier1 - - 30 0 0.00 16 6 27.27 ECM1 0 genome.wustl.edu 37 1 150483621 150483621 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 150483621 150483621 C T SNP ECM1 ENST00000369049 human ensembl 74_37 +1 known missense c.736 p.R246C 1.000 pfam_ECM1,superfamily_Serum_albumin-like pfam_ECM1,superfamily_Serum_albumin-like - no_errors ECM1 HGNC ENSG00000143369 tier1 - - 72 0 0.00 56 22 28.21 ECSIT 0 genome.wustl.edu 37 19 11624897 11624897 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 11624897 11624897 G A SNP ECSIT ENST00000270517 human ensembl 74_37 -1 known missense c.236 p.A79V 0.010 pfam_ECSIT pfam_ECSIT - no_errors ECSIT HGNC ENSG00000130159 tier1 - - 49 0 0.00 21 17 44.74 ECT2L 0 genome.wustl.edu 37 6 139165650 139165650 + Nonsense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 139165650 139165650 C T SNP ECT2L ENST00000367682 human ensembl 74_37 +1 known nonsense c.697 p.R233* 0.000 NULL pfam_DH-domain,pfam_F-box_dom,superfamily_DH-domain,superfamily_F-box_dom,smart_DH-domain,pfscan_DH-domain - no_errors ECT2L HGNC ENSG00000203734 tier1 - - 46 0 0.00 45 5 10.00 EDEM2 0 genome.wustl.edu 37 20 33730239 33730239 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 33730239 33730239 G T SNP EDEM2 ENST00000374492 human ensembl 74_37 -1 known missense c.301 p.L101I 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM2 HGNC ENSG00000088298 tier1 - - 50 0 0.00 70 4 5.41 EDIL3 0 genome.wustl.edu 37 5 83362376 83362376 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 83362376 83362376 G A SNP EDIL3 ENST00000296591 human ensembl 74_37 -1 known missense c.701 p.A234V 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd_dom,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 EDIL3 HGNC ENSG00000164176 tier1 - - 50 0 0.00 35 28 44.44 EEF2 0 genome.wustl.edu 37 19 3980633 3980633 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 3980633 3980633 G A SNP EEF2 ENST00000309311 human ensembl 74_37 -1 known missense c.1225 p.R409W 0.987 superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC ENSG00000167658 tier1 - - 57 0 0.00 25 19 43.18 EFEMP2 0 genome.wustl.edu 37 11 65634513 65634513 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 65634513 65634513 C T SNP EFEMP2 ENST00000307998 human ensembl 74_37 -1 known missense c.1208 p.R403Q 1.000 NULL pfam_EGF-like_Ca-bd_dom,superfamily_TIL_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors EFEMP2 HGNC ENSG00000172638 46 0 0.00 49 3 5.77 EFHC2 0 genome.wustl.edu 37 X 44094659 44094660 + Frame_Shift_Ins INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 44094659 44094660 - A INS EFHC2 ENST00000420999 human ensembl 74_37 -1 known frame_shift_ins c.1315_1314 p.A438fs 1.000:0.996 smart_Uncharacterised_DM10 pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_hand_dom - no_errors EFHC2 HGNC ENSG00000183690 tier1 23 0 0.00 10 13 56.52 EFTUD1P1 0 genome.wustl.edu 37 15 84770803 84770803 + RNA SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 84770803 84770803 A G SNP EFTUD1P1 ENST00000558187 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors EFTUD1P1 HGNC ENSG00000259404 tier1 - - 134 0 0.00 71 53 42.74 EGFLAM 0 genome.wustl.edu 37 5 38370435 38370435 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 38370435 38370435 C T SNP EGFLAM ENST00000354891 human ensembl 74_37 +1 known missense c.583 p.R195W 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 tier1 - - 41 0 0.00 79 17 17.71 EGLN2 0 genome.wustl.edu 37 19 41313052 41313052 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 41313052 41313052 G A SNP EGLN2 ENST00000303961 human ensembl 74_37 +1 known missense c.973 p.G325S 1.000 pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors EGLN2 HGNC ENSG00000269858 tier1 - - 70 0 0.00 20 22 52.38 EGR2 0 genome.wustl.edu 37 10 64573471 64573473 + In_Frame_Del DEL GGC GGC - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 GGC GGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 64573471 64573473 GGC - DEL EGR2 ENST00000242480 human ensembl 74_37 -1 known in_frame_del c.927_925 p.A309in_frame_del 1.000:1.000:0.861 NULL pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR2 HGNC ENSG00000122877 tier1 52 0 0.00 41 13 24.07 EID1 0 genome.wustl.edu 37 15 49170653 49170653 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 49170653 49170653 G A SNP EID1 ENST00000530028 human ensembl 74_37 +1 known missense c.280 p.E94K 0.846 NULL NULL - no_errors EID1 HGNC ENSG00000255302 tier1 - - 90 0 0.00 38 33 46.48 EIF2A 0 genome.wustl.edu 37 3 150293481 150293481 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 150293481 150293481 G A SNP EIF2A ENST00000460851 human ensembl 74_37 +1 known missense c.1429 p.D477N 1.000 pirsf_TIF2A pfam_TIF_beta_prop-like,pirsf_TIF2A - no_errors EIF2A HGNC ENSG00000144895 tier1 - - 20 0 0.00 17 18 51.43 EIF2AK4 0 genome.wustl.edu 37 15 40280227 40280227 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 40280227 40280227 A G SNP EIF2AK4 ENST00000263791 human ensembl 74_37 +1 known missense c.2447 p.Q816R 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_dom - no_errors EIF2AK4 HGNC ENSG00000128829 tier1 - - 83 0 0.00 33 32 49.23 EIF2AK4 0 genome.wustl.edu 37 15 40309342 40309342 + Nonsense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 40309342 40309342 C T SNP EIF2AK4 ENST00000263791 human ensembl 74_37 +1 known nonsense c.3964 p.Q1322* 1.000 pirsf_Ser/Thr_kinase_GCN2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_dom - no_errors EIF2AK4 HGNC ENSG00000128829 tier1 - - 76 0 0.00 74 4 5.13 EIF2AK4 0 genome.wustl.edu 37 15 40326639 40326639 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 40326639 40326639 A - DEL EIF2AK4 ENST00000263791 human ensembl 74_37 +1 known frame_shift_del c.4886 p.K1631fs 1.000 pirsf_Ser/Thr_kinase_GCN2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_dom - no_errors EIF2AK4 HGNC ENSG00000128829 tier1 66 0 0.00 45 22 32.84 EIF2D 0 genome.wustl.edu 37 1 206765123 206765123 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 206765123 206765123 G A SNP EIF2D ENST00000271764 human ensembl 74_37 -1 known missense c.1739 p.P580L 1.000 NULL pfam_TIF_SUI1,superfamily_TIF_SUI1,superfamily_SWIB_MDM2_domain,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,pfscan_TIF_SUI1 - no_errors EIF2D HGNC ENSG00000143486 tier1 - - 87 0 0.00 101 27 21.09 EIF4B 0 genome.wustl.edu 37 12 53400172 53400172 + RNA DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 53400172 53400172 C - DEL EIF4B ENST00000551527 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors EIF4B HGNC ENSG00000063046 tier1 50 0 0.00 38 11 22.45 EIF4E1B 0 genome.wustl.edu 37 5 176070674 176070674 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 176070674 176070674 C T SNP EIF4E1B ENST00000318682 human ensembl 74_37 +1 known missense c.235 p.R79W 1.000 pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom - no_errors EIF4E1B HGNC ENSG00000175766 tier1 - - 56 0 0.00 30 29 49.15 EIF4EBP2 0 genome.wustl.edu 37 10 72179687 72179687 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 72179687 72179687 G T SNP EIF4EBP2 ENST00000373218 human ensembl 74_37 +1 known missense c.163 p.D55Y 1.000 pfam_EIF4EBP pfam_EIF4EBP - no_errors EIF4EBP2 HGNC ENSG00000148730 28 0 0.00 32 3 8.57 EIF4G1 0 genome.wustl.edu 37 3 184045617 184045617 + Splice_Site SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 184045617 184045617 G T SNP EIF4G1 ENST00000352767 human ensembl 74_37 +1 known splice_site c.3802-1 e25-1 1.000 - - - no_errors EIF4G1 HGNC ENSG00000114867 22 0 0.00 21 2 8.70 ELAVL1 0 genome.wustl.edu 37 19 8028566 8028566 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 8028566 8028566 C A SNP ELAVL1 ENST00000351593 human ensembl 74_37 -1 known missense c.863 p.W288L 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL1 HGNC ENSG00000066044 tier1 - - 50 0 0.00 27 19 41.30 ELAVL2 0 genome.wustl.edu 37 9 23692567 23692567 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 23692567 23692567 C T SNP ELAVL2 ENST00000380117 human ensembl 74_37 -1 known silent c.1068 p.T356 1.000 tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL2 HGNC ENSG00000107105 tier1 - - 27 0 0.00 29 14 32.56 ELAVL3 0 genome.wustl.edu 37 19 11591485 11591485 + RNA DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 11591485 11591485 G - DEL ELAVL3 ENST00000592218 human ensembl 74_37 -1 putative rna NULL NULL 0.999 - - - no_errors ELAVL3 HGNC ENSG00000196361 tier1 62 0 0.00 33 29 46.77 ELL2 0 genome.wustl.edu 37 5 95297452 95297452 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 95297452 95297452 G A SNP ELL2 ENST00000506628 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ELL2 HGNC ENSG00000118985 tier1 - - 19 0 0.00 7 6 42.86 ELMO2 0 genome.wustl.edu 37 20 45014792 45014792 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 45014792 45014792 G A SNP ELMO2 ENST00000439931 human ensembl 74_37 -1 known silent c.648 p.T216 1.000 pfam_DUF3361,superfamily_ARM-type_fold pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO2 HGNC ENSG00000062598 tier1 rs145510870 - 30 0 0.00 19 6 24.00 ELMO3 0 genome.wustl.edu 37 16 67236803 67236803 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 67236803 67236803 G A SNP ELMO3 ENST00000393997 human ensembl 74_37 +1 known missense c.1730 p.R577Q 1.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO3 HGNC ENSG00000102890 tier1 - - 52 0 0.00 20 20 50.00 ELMSAN1 0 genome.wustl.edu 37 14 74205773 74205773 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 74205773 74205773 G - DEL ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known frame_shift_del c.939 p.N314fs 0.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 tier1 50 0 0.00 14 10 41.67 ELOVL2 0 genome.wustl.edu 37 6 10995330 10995330 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 10995330 10995330 T - DEL ELOVL2 ENST00000354666 human ensembl 74_37 -1 known frame_shift_del c.415 p.T139fs 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL2 HGNC ENSG00000197977 tier1 54 0 0.00 31 5 13.89 ELP2 0 genome.wustl.edu 37 18 33725927 33725927 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 33725927 33725927 G T SNP ELP2 ENST00000358232 human ensembl 74_37 +1 known missense c.909 p.Q303H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ELP2 HGNC ENSG00000134759 tier1 - - 37 0 0.00 56 5 8.20 ELP3 0 genome.wustl.edu 37 8 27987107 27987107 + Silent SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 27987107 27987107 T C SNP ELP3 ENST00000256398 human ensembl 74_37 +1 known silent c.706 p.L236 1.000 pfam_rSAM,smart_Elp3/MiaB/NifB,pirsf_Hist_AcTrfase_ELP3,tigrfam_Hist_AcTrfase_ELP3 pfam_rSAM,pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,smart_Elp3/MiaB/NifB,pirsf_Hist_AcTrfase_ELP3,pfscan_GNAT_dom,tigrfam_Hist_AcTrfase_ELP3 - no_errors ELP3 HGNC ENSG00000134014 tier1 - - 84 0 0.00 101 28 21.71 ELP4 0 genome.wustl.edu 37 11 31561258 31561258 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 31561258 31561258 G T SNP ELP4 ENST00000395934 human ensembl 74_37 +1 known silent c.309 p.L103 1.000 pfam_Elongator_complex_protein_4 pfam_Elongator_complex_protein_4,superfamily_P-loop_NTPase - no_errors ELP4 HGNC ENSG00000109911 tier1 - - 63 0 0.00 45 4 8.16 EMC3 0 genome.wustl.edu 37 3 10015329 10015329 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 10015329 10015329 G T SNP EMC3 ENST00000245046 human ensembl 74_37 -1 known silent c.477 p.L159 0.942 pfam_DUF106_TM,pirsf_UCP010045_TM_euk pfam_DUF106_TM,pirsf_UCP010045_TM_euk - no_errors EMC3 HGNC ENSG00000125037 tier1 - - 73 0 0.00 70 4 5.41 EMX2 0 genome.wustl.edu 37 10 119305214 119305214 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 119305214 119305214 G A SNP EMX2 ENST00000553456 human ensembl 74_37 +1 known missense c.478 p.A160T 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif - no_errors EMX2 HGNC ENSG00000170370 tier1 - - 88 0 0.00 45 35 43.75 ENKUR 0 genome.wustl.edu 37 10 25288338 25288339 + Frame_Shift_Del DEL AG AG - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 25288338 25288339 AG - DEL ENKUR ENST00000331161 human ensembl 74_37 -1 known frame_shift_del c.215_214 p.L72fs 0.376:0.161 NULL NULL - no_errors ENKUR HGNC ENSG00000151023 tier1 45 0 0.00 39 35 47.30 ENO1 0 genome.wustl.edu 37 1 8927293 8927293 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 8927293 8927293 G A SNP ENO1 ENST00000234590 human ensembl 74_37 -1 known silent c.327 p.N109 0.971 pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO1 HGNC ENSG00000074800 tier1 - - 52 0 0.00 29 18 38.30 ENO4 0 genome.wustl.edu 37 10 118618628 118618628 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 118618628 118618628 A - DEL ENO4 ENST00000341276 human ensembl 74_37 +1 known frame_shift_del c.616 p.K208fs 0.942 NULL pfam_Enolase_C,pfam_Enolase_N - no_errors ENO4 HGNC ENSG00000188316 tier1 55 0 0.00 36 30 45.45 ENPP3 0 genome.wustl.edu 37 6 132043497 132043497 + Silent SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 132043497 132043497 T C SNP ENPP3 ENST00000357639 human ensembl 74_37 +1 known silent c.1698 p.N566 0.051 NULL pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom - no_errors ENPP3 HGNC ENSG00000154269 tier1 - - 112 0 0.00 78 7 8.24 ENSG00000188850 0 genome.wustl.edu 37 5 43348817 43348820 + RNA DEL AAAA AAAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 43348817 43348820 AAAA - DEL ENSG00000188850 ENST00000511991 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001:0.002:0.003 - - - no_errors RP11-159F24.2 Clone_based_vega_gene ENSG00000188850 tier1 13 0 0.00 16 14 46.67 ENSG00000188971 0 genome.wustl.edu 37 2 69693391 69693392 + RNA INS - - G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 69693391 69693392 - G INS ENSG00000188971 ENST00000339092 human ensembl 74_37 -1 known rna NULL NULL 0.417:0.405 - - - no_errors RP11-427H3.3 Clone_based_vega_gene ENSG00000188971 tier1 50 0 0.00 25 10 28.57 ENSG00000200630 0 genome.wustl.edu 37 8 13017741 13017741 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 13017741 13017741 T - DEL ENSG00000200630 ENST00000363760 human ensembl 74_37 +1 novel rna NULL NULL 0.567 - - - no_errors Y_RNA RFAM ENSG00000200630 tier1 10 0 0.00 7 3 30.00 ENSG00000203394 0 genome.wustl.edu 37 1 21069616 21069617 + RNA DEL TT TT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 21069616 21069617 TT - DEL ENSG00000203394 ENST00000413451 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors RP5-930J4.4 Clone_based_vega_gene ENSG00000203394 tier1 20 0 0.00 18 7 28.00 ENSG00000204791 0 genome.wustl.edu 37 8 145104649 145104649 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 145104649 145104649 C T SNP ENSG00000204791 ENST00000528912 human ensembl 74_37 +1 known rna NULL NULL 0.055 - - - no_errors CTD-3065J16.6 Clone_based_vega_gene ENSG00000204791 tier1 - - 16 0 0.00 9 7 43.75 ENSG00000206113 0 genome.wustl.edu 37 4 2428672 2428672 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 2428672 2428672 C T SNP ENSG00000206113 ENST00000382849 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-503N18.1 Clone_based_vega_gene ENSG00000206113 tier1 - - 91 0 0.00 38 25 39.68 ENSG00000206567 0 genome.wustl.edu 37 3 10048499 10048499 + RNA SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 10048499 10048499 G T SNP ENSG00000206567 ENST00000383808 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors AC022007.5 Clone_based_vega_gene ENSG00000206567 tier1 - - 36 0 0.00 18 18 50.00 ENSG00000211518 0 genome.wustl.edu 37 7 88269891 88269893 + RNA DEL TTT TTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 88269891 88269893 TTT - DEL ENSG00000211518 ENST00000390184 human ensembl 74_37 +1 novel rna NULL NULL 0.475:0.436:0.392 - - - no_errors AC006988.1 Clone_based_ensembl_gene ENSG00000211518 tier1 21 0 0.00 10 14 58.33 ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 65790 65790 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 GL000212.1 65790 65790 G A SNP ENSG00000212857 ENST00000391545 human ensembl 74_37 +1 known silent c.1539 p.T513 NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000212857 tier1 - - 89 0 0.00 68 25 26.88 ENSG00000212999 0 genome.wustl.edu 37 8 93897074 93897075 + Frame_Shift_Ins INS - - G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 93897074 93897075 - G INS ENSG00000212999 ENST00000391681 human ensembl 74_37 +1 novel frame_shift_ins c.32_33 p.W14fs 0.969:0.807 NULL NULL - no_errors AC117834.1 Clone_based_ensembl_gene ENSG00000212999 tier1 21 0 0.00 33 11 25.00 ENSG00000213225 0 genome.wustl.edu 37 2 130989054 130989054 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 130989054 130989054 C T SNP ENSG00000213225 ENST00000450578 human ensembl 74_37 +1 known rna NULL NULL 0.719 - - - no_errors AC018804.7 Clone_based_vega_gene ENSG00000213225 tier1 - - 78 0 0.00 43 30 41.10 ENSG00000214797 0 genome.wustl.edu 37 11 59038011 59038012 + RNA DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 59038011 59038012 AA - DEL ENSG00000214797 ENST00000399003 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-1036E20.9 Clone_based_vega_gene ENSG00000214797 tier1 25 0 0.00 10 18 64.29 ENSG00000216022 0 genome.wustl.edu 37 10 53399574 53399574 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 53399574 53399574 G A SNP ENSG00000216022 ENST00000401203 human ensembl 74_37 -1 novel rna NULL NULL 0.001 - - - no_errors AC068062.1 Clone_based_ensembl_gene ENSG00000216022 tier1 - - 22 0 0.00 6 7 53.85 ENSG00000216037 0 genome.wustl.edu 37 1 95970583 95970583 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 95970583 95970583 A - DEL ENSG00000216037 ENST00000401218 human ensembl 74_37 -1 novel rna NULL NULL 0.009 - - - no_errors AL356479.1 Clone_based_ensembl_gene ENSG00000216037 tier1 49 0 0.00 31 27 46.55 ENSG00000216113 0 genome.wustl.edu 37 8 104863916 104863916 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 104863916 104863916 C T SNP ENSG00000216113 ENST00000401294 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AP001572.1 Clone_based_ensembl_gene ENSG00000216113 tier1 - - 22 0 0.00 10 7 41.18 ENSG00000221060 0 genome.wustl.edu 37 14 70270922 70270922 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 70270922 70270922 T - DEL ENSG00000221060 ENST00000408133 human ensembl 74_37 -1 novel rna NULL NULL 0.003 - - - no_errors SNORA11 RFAM ENSG00000221060 tier1 16 0 0.00 9 11 55.00 ENSG00000221219 0 genome.wustl.edu 37 4 54969778 54969778 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 54969778 54969778 G A SNP ENSG00000221219 ENST00000408292 human ensembl 74_37 -1 novel rna NULL NULL 0.002 - - - no_errors AC110298.1 Clone_based_ensembl_gene ENSG00000221219 tier1 rs28628203 - 67 0 0.00 35 15 30.00 ENSG00000221244 0 genome.wustl.edu 37 5 1004312 1004312 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 1004312 1004312 T - DEL ENSG00000221244 ENST00000408317 human ensembl 74_37 +1 novel rna NULL NULL 0.050 - - - no_errors AC116351.2 Clone_based_ensembl_gene ENSG00000221244 tier1 47 0 0.00 45 14 23.73 ENSG00000221734 0 genome.wustl.edu 37 9 117554475 117554476 + RNA DEL GT GT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 117554475 117554476 GT - DEL ENSG00000221734 ENST00000408807 human ensembl 74_37 +1 novel rna NULL NULL 0.007:0.006 - - - no_errors AL390240.1 Clone_based_ensembl_gene ENSG00000221734 tier1 15 0 0.00 7 3 30.00 ENSG00000222899 0 genome.wustl.edu 37 14 27396917 27396919 + RNA DEL AAA AAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 27396917 27396919 AAA - DEL ENSG00000222899 ENST00000410967 human ensembl 74_37 +1 novel rna NULL NULL 0.000:0.001:0.000 - - - no_errors AL110292.1 Clone_based_ensembl_gene ENSG00000222899 tier1 122 0 0.00 120 40 25.00 ENSG00000223231 0 genome.wustl.edu 37 1 84259638 84259638 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 84259638 84259638 A - DEL ENSG00000223231 ENST00000411299 human ensembl 74_37 +1 novel rna NULL NULL 0.062 - - - no_errors AL035706.1 Clone_based_ensembl_gene ENSG00000223231 tier1 11 0 0.00 7 13 65.00 ENSG00000223697 0 genome.wustl.edu 37 8 133854715 133854717 + RNA DEL TTT TTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 133854715 133854717 TTT - DEL ENSG00000223697 ENST00000608375 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.002:0.000 - - - no_errors AF230666.2 Clone_based_vega_gene ENSG00000223697 tier1 16 0 0.00 16 25 60.98 ENSG00000224666 0 genome.wustl.edu 37 6 36359695 36359698 + RNA DEL TTTA TTTA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTTA TTTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 36359695 36359698 TTTA - DEL ENSG00000224666 ENST00000411643 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001:0.002:0.005 - - - no_errors RP1-50J22.4 Clone_based_vega_gene ENSG00000224666 tier1 20 0 0.00 7 7 50.00 ENSG00000225241 0 genome.wustl.edu 37 1 144598579 144598579 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 144598579 144598579 C T SNP ENSG00000225241 ENST00000419820 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-640M9.2 Clone_based_vega_gene ENSG00000225241 tier1 - - 57 0 0.00 52 7 11.86 ENSG00000225782 0 genome.wustl.edu 37 1 220836379 220836379 + RNA SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 220836379 220836379 G T SNP ENSG00000225782 ENST00000446040 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-322F10.2 Clone_based_vega_gene ENSG00000225782 tier1 - - 55 0 0.00 67 6 8.22 ENSG00000226849 0 genome.wustl.edu 37 1 11132251 11132251 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 11132251 11132251 A - DEL ENSG00000226849 ENST00000452378 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP4-635E18.7 Clone_based_vega_gene ENSG00000226849 tier1 38 0 0.00 16 15 48.39 ENSG00000228172 0 genome.wustl.edu 37 1 26143253 26143253 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 26143253 26143253 T - DEL ENSG00000228172 ENST00000442055 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP1-317E23.3 Clone_based_vega_gene ENSG00000228172 tier1 52 0 0.00 39 15 27.78 ENSG00000228189 0 genome.wustl.edu 37 9 91262294 91262294 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 91262294 91262294 C T SNP ENSG00000228189 ENST00000418343 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP13-60M5.2 Clone_based_vega_gene ENSG00000228189 tier1 - - 89 0 0.00 38 36 48.65 ENSG00000228436 0 genome.wustl.edu 37 1 39341838 39341838 + RNA SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 39341838 39341838 G T SNP ENSG00000228436 ENST00000443161 human ensembl 74_37 +1 known rna NULL NULL 0.277 - - - no_errors RP5-864K19.4 Clone_based_vega_gene ENSG00000228436 tier1 - - 70 0 0.00 45 5 10.00 ENSG00000229481 0 genome.wustl.edu 37 19 38321455 38321455 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 38321455 38321455 C T SNP ENSG00000229481 ENST00000443870 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors CTD-2554C21.3 Clone_based_vega_gene ENSG00000229481 tier1 - - 45 0 0.00 25 22 46.81 ENSG00000230490 0 genome.wustl.edu 37 13 34098474 34098475 + RNA INS - - T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 34098474 34098475 - T INS ENSG00000230490 ENST00000454681 human ensembl 74_37 -1 known rna NULL NULL 0.004:0.002 - - - no_errors RP11-141M1.3 Clone_based_vega_gene ENSG00000230490 tier1 25 0 0.00 19 9 32.14 ENSG00000230615 0 genome.wustl.edu 37 1 44569721 44569721 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 44569721 44569721 G A SNP ENSG00000230615 ENST00000434244 human ensembl 74_37 +1 known rna NULL NULL 0.993 - - - no_errors RP5-1198O20.4 Clone_based_vega_gene ENSG00000230615 tier1 - - 36 0 0.00 22 23 51.11 ENSG00000231345 0 genome.wustl.edu 37 10 52419262 52419262 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 52419262 52419262 C T SNP ENSG00000231345 ENST00000449695 human ensembl 74_37 +1 known rna NULL NULL 0.951 - - - no_errors RP11-564C4.6 Clone_based_vega_gene ENSG00000231345 tier1 - - 25 0 0.00 12 8 40.00 ENSG00000232043 0 genome.wustl.edu 37 20 49191303 49191303 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 49191303 49191303 C T SNP ENSG00000232043 ENST00000431019 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP4-530I15.9 Clone_based_vega_gene ENSG00000232043 tier1 - - 15 0 0.00 13 11 45.83 ENSG00000232220 0 genome.wustl.edu 37 19 54378026 54378029 + RNA DEL TTTT TTTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTTT TTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 54378026 54378029 TTTT - DEL ENSG00000232220 ENST00000413496 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.000:0.000 - - - no_errors AC008440.5 Clone_based_vega_gene ENSG00000232220 tier1 98 0 0.00 71 12 14.46 ENSG00000232220 0 genome.wustl.edu 37 19 54378033 54378033 + RNA SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 54378033 54378033 T C SNP ENSG00000232220 ENST00000413496 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC008440.5 Clone_based_vega_gene ENSG00000232220 tier1 rs1143256 - 87 0 0.00 66 15 18.52 ENSG00000232220 0 genome.wustl.edu 37 19 54379104 54379105 + RNA DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 54379104 54379105 AA - DEL ENSG00000232220 ENST00000413496 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors AC008440.5 Clone_based_vega_gene ENSG00000232220 tier1 16 0 0.00 8 4 33.33 ENSG00000232335 0 genome.wustl.edu 37 1 36208989 36208989 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 36208989 36208989 A - DEL ENSG00000232335 ENST00000373226 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-435D7.3 Clone_based_vega_gene ENSG00000232335 tier1 63 0 0.00 39 16 29.09 ENSG00000232532 0 genome.wustl.edu 37 6 90630851 90630851 + RNA SNP T T G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 90630851 90630851 T G SNP ENSG00000232532 ENST00000458201 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-63K6.7 Clone_based_vega_gene ENSG00000232532 tier1 - - 49 0 0.00 36 18 33.33 ENSG00000232783 0 genome.wustl.edu 37 3 197838274 197838276 + RNA DEL AAA AAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 197838274 197838276 AAA - DEL ENSG00000232783 ENST00000411596 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001:0.001 - - - no_errors AC073135.3 Clone_based_vega_gene ENSG00000232783 tier1 16 0 0.00 27 5 15.62 ENSG00000233030 0 genome.wustl.edu 37 1 149764212 149764213 + RNA INS - - G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 149764212 149764213 - G INS ENSG00000233030 ENST00000428289 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors RP11-196G18.3 Clone_based_vega_gene ENSG00000233030 tier1 8 0 0.00 12 5 29.41 ENSG00000234117 0 genome.wustl.edu 37 6 116818039 116818039 + RNA SNP T T A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 116818039 116818039 T A SNP ENSG00000234117 ENST00000420595 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-259P20.1 Clone_based_vega_gene ENSG00000234117 tier1 - - 42 0 0.00 28 16 36.36 ENSG00000234277 0 genome.wustl.edu 37 1 227618299 227618299 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 227618299 227618299 A - DEL ENSG00000234277 ENST00000445817 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CTD-2090I13.1 Clone_based_vega_gene ENSG00000234277 tier1 35 0 0.00 38 16 29.63 ENSG00000234484 0 genome.wustl.edu 37 6 133073948 133073948 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 133073948 133073948 A - DEL ENSG00000234484 ENST00000430895 human ensembl 74_37 +1 known rna NULL NULL 0.029 - - - no_errors RP1-55C23.7 Clone_based_vega_gene ENSG00000234484 tier1 10 0 0.00 11 3 21.43 ENSG00000234921 0 genome.wustl.edu 37 9 126794643 126794643 + RNA DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 126794643 126794643 G - DEL ENSG00000234921 ENST00000429482 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-85O21.5 Clone_based_vega_gene ENSG00000234921 tier1 17 0 0.00 13 6 31.58 ENSG00000236817 0 genome.wustl.edu 37 1 247729207 247729209 + RNA DEL TTT TTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 247729207 247729209 TTT - DEL ENSG00000236817 ENST00000435333 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.001 - - - no_errors RP11-978I15.10 Clone_based_vega_gene ENSG00000236817 tier1 31 0 0.00 58 9 13.43 ENSG00000236986 0 genome.wustl.edu 37 9 134008392 134008392 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 134008392 134008392 T - DEL ENSG00000236986 ENST00000587264 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-544A12.4 Clone_based_vega_gene ENSG00000236986 tier1 16 0 0.00 12 9 42.86 ENSG00000241358 0 genome.wustl.edu 37 3 146119248 146119248 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 146119248 146119248 G A SNP ENSG00000241358 ENST00000490344 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-758I14.3 Clone_based_vega_gene ENSG00000241358 tier1 - - 68 0 0.00 28 26 48.15 ENSG00000242048 0 genome.wustl.edu 37 7 151504031 151504031 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 151504031 151504031 A - DEL ENSG00000242048 ENST00000462083 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors RP13-452N2.1 Clone_based_vega_gene ENSG00000242048 tier1 25 0 0.00 16 5 23.81 ENSG00000242288 0 genome.wustl.edu 37 10 75434061 75434061 + RNA SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 75434061 75434061 C A SNP ENSG00000242288 ENST00000399449 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors RP11-464F9.1 Clone_based_vega_gene ENSG00000242288 tier1 - - 44 0 0.00 69 9 11.54 ENSG00000243008 0 genome.wustl.edu 37 13 25157681 25157681 + RNA SNP G G C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 25157681 25157681 G C SNP ENSG00000243008 ENST00000453498 human ensembl 74_37 +1 known rna NULL NULL 0.881 - - - no_errors RP11-556N21.1 Clone_based_vega_gene ENSG00000243008 tier1 - - 143 0 0.00 173 12 6.49 ENSG00000245156 0 genome.wustl.edu 37 11 66039143 66039143 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 66039143 66039143 A - DEL ENSG00000245156 ENST00000501708 human ensembl 74_37 -1 known rna NULL NULL 0.020 - - - no_errors RP11-867G23.3 Clone_based_vega_gene ENSG00000245156 tier1 22 0 0.00 10 31 75.61 ENSG00000246790 0 genome.wustl.edu 37 11 121323408 121323408 + RNA SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 121323408 121323408 C A SNP ENSG00000246790 ENST00000501964 human ensembl 74_37 -1 known rna NULL NULL 0.083 - - - no_errors RP11-730K11.1 Clone_based_vega_gene ENSG00000246790 tier1 - - 54 0 0.00 21 18 46.15 ENSG00000247373 0 genome.wustl.edu 37 12 124069475 124069475 + RNA SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 124069475 124069475 C A SNP ENSG00000247373 ENST00000498967 human ensembl 74_37 -1 known rna NULL NULL 0.603 - - - no_errors RP11-486O12.2 Clone_based_vega_gene ENSG00000247373 tier1 - - 23 0 0.00 13 10 43.48 ENSG00000248015 0 genome.wustl.edu 37 19 1395345 1395345 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 1395345 1395345 C T SNP ENSG00000248015 ENST00000501448 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC005329.7 Clone_based_vega_gene ENSG00000248015 tier1 - - 11 0 0.00 6 8 57.14 ENSG00000248245 0 genome.wustl.edu 37 5 132559937 132559937 + RNA SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 132559937 132559937 G T SNP ENSG00000248245 ENST00000502776 human ensembl 74_37 +1 known rna NULL NULL 0.016 - - - no_errors CTB-49A3.2 Clone_based_vega_gene ENSG00000248245 tier1 - - 72 0 0.00 55 4 6.78 ENSG00000248840 0 genome.wustl.edu 37 4 3314643 3314644 + RNA INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 3314643 3314644 - A INS ENSG00000248840 ENST00000600073 human ensembl 74_37 +1 known rna NULL NULL 0.003:0.004 - - - no_errors RP11-357G3.2 Clone_based_vega_gene ENSG00000248840 tier1 19 0 0.00 13 6 31.58 ENSG00000249428 0 genome.wustl.edu 37 4 2453979 2453979 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 2453979 2453979 G A SNP ENSG00000249428 ENST00000506607 human ensembl 74_37 +1 putative missense c.302 p.R101Q 0.999 NULL NULL - no_errors RP11-503N18.3 Clone_based_vega_gene ENSG00000249428 tier1 - - 60 0 0.00 30 30 50.00 ENSG00000251095 0 genome.wustl.edu 37 4 90647546 90647546 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 90647546 90647546 A - DEL ENSG00000251095 ENST00000508021 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-115D19.1 Clone_based_vega_gene ENSG00000251095 tier1 24 0 0.00 25 7 21.88 ENSG00000251429 0 genome.wustl.edu 37 4 159198967 159198967 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 159198967 159198967 G A SNP ENSG00000251429 ENST00000512016 human ensembl 74_37 +1 known rna NULL NULL 0.114 - - - no_errors RP11-597D13.7 Clone_based_vega_gene ENSG00000251429 tier1 - - 41 0 0.00 12 13 52.00 ENSG00000251680 0 genome.wustl.edu 37 5 129098338 129098338 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 129098338 129098338 C T SNP ENSG00000251680 ENST00000503616 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors CTC-575N7.1 Clone_based_vega_gene ENSG00000251680 tier1 - - 95 0 0.00 60 32 34.78 ENSG00000252176 0 genome.wustl.edu 37 8 39418478 39418483 + RNA DEL TGTGTG TGTGTG - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TGTGTG TGTGTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 39418478 39418483 TGTGTG 0 DEL ENSG00000252176 ENST00000516367 human ensembl 74_37 +1 novel rna NULL NULL 0.000:0.000:0.000:0.000:0.000:0.000 - - - no_errors AC123767.1 Clone_based_ensembl_gene ENSG00000252176 22 0 0.00 28 16 36.36 ENSG00000252664 0 genome.wustl.edu 37 Y 18174668 18174668 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 Y 18174668 18174668 G A SNP ENSG00000252664 ENST00000516855 human ensembl 74_37 +1 novel rna NULL NULL 0.263 - - - no_errors AC017020.1 Clone_based_ensembl_gene ENSG00000252664 tier1 - - 12 0 0.00 2 10 83.33 ENSG00000253334 0 genome.wustl.edu 37 8 82727641 82727641 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 82727641 82727641 A - DEL ENSG00000253334 ENST00000524337 human ensembl 74_37 +1 known rna NULL NULL 0.496 - - - no_errors RP13-923O23.6 Clone_based_vega_gene ENSG00000253334 tier1 28 0 0.00 14 10 41.67 ENSG00000253722 0 genome.wustl.edu 37 8 94745547 94745548 + RNA INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 94745547 94745548 - A INS ENSG00000253722 ENST00000517998 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors RP11-10N23.4 Clone_based_vega_gene ENSG00000253722 tier1 16 0 0.00 8 3 27.27 ENSG00000253917 0 genome.wustl.edu 37 4 3923361 3923361 + RNA DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 3923361 3923361 G - DEL ENSG00000253917 ENST00000514073 human ensembl 74_37 -1 known rna NULL NULL 0.471 - - - no_errors AC226119.5 Clone_based_vega_gene ENSG00000253917 tier1 64 0 0.00 28 13 31.71 ENSG00000254154 0 genome.wustl.edu 37 1 177898421 177898421 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 177898421 177898421 A - DEL ENSG00000254154 ENST00000354921 human ensembl 74_37 -1 known rna NULL NULL 0.047 - - - no_errors RP4-798P15.3 Clone_based_vega_gene ENSG00000254154 tier1 19 0 0.00 7 6 46.15 ENSG00000254420 0 genome.wustl.edu 37 11 78154811 78154812 + RNA DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 78154811 78154812 AA - DEL ENSG00000254420 ENST00000534168 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.006 - - - no_errors RP11-452H21.1 Clone_based_vega_gene ENSG00000254420 tier1 30 0 0.00 11 22 66.67 ENSG00000254741 0 genome.wustl.edu 37 8 144662012 144662012 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 144662012 144662012 C T SNP ENSG00000254741 ENST00000529247 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-661A12.7 Clone_based_vega_gene ENSG00000254741 tier1 - - 58 0 0.00 51 23 31.08 ENSG00000257042 0 genome.wustl.edu 37 12 28122681 28122681 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 28122681 28122681 A - DEL ENSG00000257042 ENST00000538113 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-993B23.3 Clone_based_vega_gene ENSG00000257042 tier1 33 0 0.00 43 11 20.37 ENSG00000257434 0 genome.wustl.edu 37 12 75434784 75434784 + RNA SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 75434784 75434784 G T SNP ENSG00000257434 ENST00000547040 human ensembl 74_37 +1 known rna NULL NULL 0.980 - - - no_errors RP11-81K13.1 Clone_based_vega_gene ENSG00000257434 tier1 - - 53 0 0.00 59 4 6.35 ENSG00000257434 0 genome.wustl.edu 37 12 75435987 75435988 + RNA DEL TT TT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 75435987 75435988 TT - DEL ENSG00000257434 ENST00000547040 human ensembl 74_37 +1 known rna NULL NULL 0.005:0.007 - - - no_errors RP11-81K13.1 Clone_based_vega_gene ENSG00000257434 tier1 19 0 0.00 14 11 44.00 ENSG00000257769 0 genome.wustl.edu 37 16 15702390 15702390 + RNA DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 15702390 15702390 G - DEL ENSG00000257769 ENST00000549756 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTB-193M12.1 Clone_based_vega_gene ENSG00000257769 tier1 35 0 0.00 18 13 41.94 ENSG00000257913 0 genome.wustl.edu 37 12 49412241 49412241 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 49412241 49412241 G A SNP ENSG00000257913 ENST00000547395 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-386G11.5 Clone_based_vega_gene ENSG00000257913 tier1 - - 54 0 0.00 26 13 33.33 ENSG00000257913 0 genome.wustl.edu 37 12 49412461 49412461 + RNA DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 49412461 49412461 G - DEL ENSG00000257913 ENST00000547395 human ensembl 74_37 +1 known rna NULL NULL 0.377 - - - no_errors RP11-386G11.5 Clone_based_vega_gene ENSG00000257913 tier1 56 0 0.00 26 22 45.83 ENSG00000258727 0 genome.wustl.edu 37 14 24034973 24034974 + RNA INS - - C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 24034973 24034974 - C INS ENSG00000258727 ENST00000555968 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-66N24.3 Clone_based_vega_gene ENSG00000258727 tier1 40 0 0.00 20 7 25.93 ENSG00000258745 0 genome.wustl.edu 37 14 51379086 51379087 + RNA INS - - T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 51379086 51379087 - T INS ENSG00000258745 ENST00000557343 human ensembl 74_37 +1 known rna NULL NULL 0.329:0.559 - - - no_errors RP11-218E20.5 Clone_based_vega_gene ENSG00000258745 tier1 12 0 0.00 7 2 22.22 ENSG00000258908 0 genome.wustl.edu 37 14 20943125 20943125 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 20943125 20943125 T - DEL ENSG00000258908 ENST00000554678 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-203M5.8 Clone_based_vega_gene ENSG00000258908 tier1 40 0 0.00 30 9 23.08 ENSG00000259180 0 genome.wustl.edu 37 15 55972661 55972663 + RNA DEL TTT TTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 55972661 55972663 TTT - DEL ENSG00000259180 ENST00000561155 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors RP11-420M1.2 Clone_based_vega_gene ENSG00000259180 tier1 15 0 0.00 10 11 52.38 ENSG00000259211 0 genome.wustl.edu 37 15 40756486 40756486 + RNA SNP T T G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 40756486 40756486 T G SNP ENSG00000259211 ENST00000559730 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-64K12.8 Clone_based_vega_gene ENSG00000259211 tier1 - - 15 0 0.00 3 4 57.14 ENSG00000259241 0 genome.wustl.edu 37 15 51987960 51987960 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 51987960 51987960 A - DEL ENSG00000259241 ENST00000559918 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors RP11-313P18.2 Clone_based_vega_gene ENSG00000259241 tier1 23 0 0.00 27 2 6.90 ENSG00000260415 0 genome.wustl.edu 37 12 52204038 52204039 + Frame_Shift_Ins INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 52204038 52204039 - A INS ENSG00000260415 ENST00000599343 human ensembl 74_37 +1 known frame_shift_ins c.80_81 p.K31fs 0.000:0.001 NULL NULL - no_errors AC068987.1 Clone_based_ensembl_gene ENSG00000260415 tier1 27 0 0.00 21 12 36.36 ENSG00000260465 0 genome.wustl.edu 37 16 66755236 66755236 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 66755236 66755236 T - DEL ENSG00000260465 ENST00000569274 human ensembl 74_37 +1 known rna NULL NULL 0.712 - - - no_errors RP11-63M22.2 Clone_based_vega_gene ENSG00000260465 tier1 36 0 0.00 18 16 47.06 ENSG00000260628 0 genome.wustl.edu 37 16 31998189 31998189 + RNA SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 31998189 31998189 C A SNP ENSG00000260628 ENST00000568570 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-1166P10.1 Clone_based_vega_gene ENSG00000260628 tier1 - - 75 0 0.00 40 26 39.39 ENSG00000261238 0 genome.wustl.edu 37 16 51183171 51183171 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 51183171 51183171 T - DEL ENSG00000261238 ENST00000570060 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors AC009166.5 Clone_based_vega_gene ENSG00000261238 tier1 9 0 0.00 10 8 44.44 ENSG00000261286 0 genome.wustl.edu 37 16 84493954 84493954 + RNA DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 84493954 84493954 G - DEL ENSG00000261286 ENST00000565700 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-517C16.2 Clone_based_vega_gene ENSG00000261286 tier1 74 0 0.00 84 10 10.64 ENSG00000261317 0 genome.wustl.edu 37 16 90038592 90038592 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 90038592 90038592 G A SNP ENSG00000261317 ENST00000565150 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-566K11.5 Clone_based_vega_gene ENSG00000261317 tier1 - - 55 0 0.00 30 20 40.00 ENSG00000261460 0 genome.wustl.edu 37 15 72638557 72638557 + RNA DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 72638557 72638557 C - DEL ENSG00000261460 ENST00000570175 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-106M3.3 Clone_based_vega_gene ENSG00000261460 tier1 32 0 0.00 21 13 38.24 ENSG00000264558 0 genome.wustl.edu 37 17 45760047 45760047 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 45760047 45760047 A - DEL ENSG00000264558 ENST00000578482 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-138C9.1 Clone_based_vega_gene ENSG00000264558 tier1 26 0 0.00 21 9 30.00 ENSG00000264714 0 genome.wustl.edu 37 18 10727320 10727320 + RNA SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 10727320 10727320 C A SNP ENSG00000264714 ENST00000581724 human ensembl 74_37 +1 known rna NULL NULL 0.185 - - - no_errors RP11-21G15.1 Clone_based_vega_gene ENSG00000264714 tier1 - - 19 0 0.00 16 4 20.00 ENSG00000265194 0 genome.wustl.edu 37 9 21861903 21861904 + RNA DEL TT TT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 21861903 21861904 TT - DEL ENSG00000265194 ENST00000581788 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-70L8.4 Clone_based_vega_gene ENSG00000265194 tier1 26 0 0.00 6 7 53.85 ENSG00000265209 0 genome.wustl.edu 37 16 57908381 57908382 + RNA DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 57908381 57908382 AA - DEL ENSG00000265209 ENST00000580935 human ensembl 74_37 -1 novel rna NULL NULL 0.000:0.000 - - - no_errors AC010543.1 Clone_based_ensembl_gene ENSG00000265209 tier1 23 0 0.00 13 11 45.83 ENSG00000265803 0 genome.wustl.edu 37 6 158596080 158596081 + RNA DEL AC AC - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 158596080 158596081 AC - DEL ENSG00000265803 ENST00000580588 human ensembl 74_37 +1 novel rna NULL NULL 0.000:0.001 - - - no_errors AL590703.1 Clone_based_ensembl_gene ENSG00000265803 tier1 30 0 0.00 20 6 23.08 ENSG00000266002 0 genome.wustl.edu 37 17 57477848 57477849 + RNA DEL TT TT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 57477848 57477849 TT - DEL ENSG00000266002 ENST00000585190 human ensembl 74_37 -1 known rna NULL NULL 0.648:0.971 - - - no_errors RP11-567L7.5 Clone_based_vega_gene ENSG00000266002 tier1 27 0 0.00 37 10 21.28 ENSG00000266775 0 genome.wustl.edu 37 17 28885005 28885005 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 28885005 28885005 A - DEL ENSG00000266775 ENST00000582125 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-218M11.6 Clone_based_vega_gene ENSG00000266775 tier1 68 0 0.00 47 10 17.54 ENSG00000266865 0 genome.wustl.edu 37 17 29349145 29349145 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 29349145 29349145 G A SNP ENSG00000266865 ENST00000579692 human ensembl 74_37 +1 known rna NULL NULL 0.185 - - - no_errors RP11-848P1.9 Clone_based_vega_gene ENSG00000266865 tier1 - - 27 0 0.00 37 5 11.90 ENSG00000266903 0 genome.wustl.edu 37 19 45202434 45202434 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 45202434 45202434 G A SNP ENSG00000266903 ENST00000590796 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTB-171A8.1 Clone_based_vega_gene ENSG00000266903 tier1 - - 40 0 0.00 29 7 19.44 ENSG00000267040 0 genome.wustl.edu 37 18 55335787 55335789 + RNA DEL AAA AAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 55335787 55335789 AAA - DEL ENSG00000267040 ENST00000592201 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors RP11-35G9.3 Clone_based_vega_gene ENSG00000267040 tier1 24 0 0.00 16 9 36.00 ENSG00000267848 0 genome.wustl.edu 37 20 62585044 62585044 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 62585044 62585044 A - DEL ENSG00000267848 ENST00000595604 human ensembl 74_37 +1 known frame_shift_del c.38 p.K16fs 0.024 NULL NULL - no_errors AL118506.1 Clone_based_ensembl_gene ENSG00000267848 tier1 12 0 0.00 7 3 30.00 ENSG00000268163 0 genome.wustl.edu 37 19 57988704 57988704 + RNA SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 57988704 57988704 C A SNP ENSG00000268163 ENST00000415705 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC004076.9 Clone_based_vega_gene ENSG00000268163 tier1 - - 61 0 0.00 44 20 31.25 ENSG00000268241 0 genome.wustl.edu 37 2 175201785 175201785 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 175201785 175201785 G A SNP ENSG00000268241 ENST00000595354 human ensembl 74_37 -1 known missense c.367 p.R123C 1.000 NULL NULL - no_errors AC018470.1 Clone_based_ensembl_gene ENSG00000268241 tier1 - - 20 0 0.00 4 3 42.86 ENSG00000268713 0 genome.wustl.edu 37 19 57773719 57773721 + RNA DEL AAA AAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 57773719 57773721 AAA - DEL ENSG00000268713 ENST00000600047 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.002:0.001 - - - no_errors CTC-444N24.8 Clone_based_vega_gene ENSG00000268713 tier1 46 0 0.00 22 41 65.08 ENSG00000269243 0 genome.wustl.edu 37 19 16244264 16244265 + RNA DEL TT TT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 16244264 16244265 TT - DEL ENSG00000269243 ENST00000599676 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors CTD-2231E14.8 Clone_based_vega_gene ENSG00000269243 tier1 20 0 0.00 6 15 71.43 ENSG00000269939 0 genome.wustl.edu 37 11 82896644 82896644 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 82896644 82896644 T - DEL ENSG00000269939 ENST00000602322 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-727A23.11 Clone_based_vega_gene ENSG00000269939 tier1 67 0 0.00 63 32 33.68 ENSG00000270726 0 genome.wustl.edu 37 X 155255058 155255058 + RNA DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 155255058 155255058 C - DEL ENSG00000270726 ENST00000285718 human ensembl 74_37 +1 known rna NULL NULL 0.076 - - - no_errors AJ271736.10 Clone_based_vega_gene ENSG00000270726 tier1 288 0 0.00 216 29 11.84 ENSG00000271894 0 genome.wustl.edu 37 2 56612188 56612188 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 56612188 56612188 T - DEL ENSG00000271894 ENST00000607540 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-482H16.1 Clone_based_vega_gene ENSG00000271894 tier1 67 0 0.00 41 17 29.31 ENSG00000272054 0 genome.wustl.edu 37 2 37438026 37438027 + RNA INS - - C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 37438026 37438027 - C INS ENSG00000272054 ENST00000606229 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-423P10.2 Clone_based_vega_gene ENSG00000272054 tier1 19 0 0.00 17 6 26.09 ENSG00000272179 0 genome.wustl.edu 37 X 119678199 119678199 + RNA SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 119678199 119678199 T C SNP ENSG00000272179 ENST00000605987 human ensembl 74_37 +1 novel rna NULL NULL 0.001 - - - no_errors snoU13 RFAM ENSG00000272179 tier1 - - 12 0 0.00 3 6 66.67 ENSG00000272299 0 genome.wustl.edu 37 13 64411581 64411582 + RNA DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 64411581 64411582 AA - DEL ENSG00000272299 ENST00000606894 human ensembl 74_37 -1 known rna NULL NULL 0.288:0.278 - - - no_errors RP11-394A14.4 Clone_based_vega_gene ENSG00000272299 tier1 20 0 0.00 9 16 64.00 ENSG00000272842 0 genome.wustl.edu 37 9 19371688 19371688 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 19371688 19371688 A - DEL ENSG00000272842 ENST00000609609 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-513M16.7 Clone_based_vega_gene ENSG00000272842 tier1 53 0 0.00 33 17 34.00 ENSG00000272913 0 genome.wustl.edu 37 2 96192343 96192343 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 96192343 96192343 G A SNP ENSG00000272913 ENST00000609975 human ensembl 74_37 -1 known rna NULL NULL 0.058 - - - no_errors RP11-440D17.3 Clone_based_vega_gene ENSG00000272913 tier1 - - 10 0 0.00 2 4 66.67 ENSG00000273192 0 genome.wustl.edu 37 22 50297002 50297002 + RNA DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 50297002 50297002 G - DEL ENSG00000273192 ENST00000610245 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CITF22-1A6.3 Clone_based_vega_gene ENSG00000273192 tier1 66 0 0.00 31 11 26.19 ENSG00000273333 0 genome.wustl.edu 37 6 32153476 32153476 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 32153476 32153476 A - DEL ENSG00000273333 ENST00000559458 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors XXbac-BPG300A18.13 Clone_based_vega_gene ENSG00000273333 tier1 33 0 0.00 17 22 56.41 ENSG00000273443 0 genome.wustl.edu 37 1 998660 998660 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 998660 998660 G A SNP ENSG00000273443 ENST00000442292 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-54O7.18 Clone_based_vega_gene ENSG00000273443 tier1 - - 48 0 0.00 32 15 31.91 EOMES 0 genome.wustl.edu 37 3 27761750 27761750 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 27761750 27761750 G A SNP EOMES ENST00000449599 human ensembl 74_37 -1 known silent c.948 p.F316 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors EOMES HGNC ENSG00000163508 tier1 - - 31 0 0.00 16 9 36.00 EP300 0 genome.wustl.edu 37 22 41574679 41574679 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 41574679 41574679 C - DEL EP300 ENST00000263253 human ensembl 74_37 +1 known frame_shift_del c.6964 p.H2324fs 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 tier1 50 0 0.00 16 9 36.00 EPG5 0 genome.wustl.edu 37 18 43532399 43532399 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 43532399 43532399 G T SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known missense c.1219 p.L407M 0.972 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 tier1 - - 40 0 0.00 47 4 7.84 EPHA10 0 genome.wustl.edu 37 1 38219906 38219906 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 38219906 38219906 C T SNP EPHA10 ENST00000427468 human ensembl 74_37 -1 known silent c.987 p.P329 0.978 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA10 HGNC ENSG00000183317 tier1 - - 176 0 0.00 67 47 41.23 EPHA5 0 genome.wustl.edu 37 4 66535355 66535355 + Nonsense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 66535355 66535355 G A SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known nonsense c.106 p.R36* 0.363 pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 tier1 - - 19 0 0.00 4 4 50.00 EPHB2 0 genome.wustl.edu 37 1 23239995 23239995 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 23239995 23239995 A - DEL EPHB2 ENST00000400191 human ensembl 74_37 +1 known frame_shift_del c.2893 p.I967fs 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 tier1 96 0 0.00 40 30 42.86 EPN1 0 genome.wustl.edu 37 19 56203122 56203122 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 56203122 56203122 G A SNP EPN1 ENST00000411543 human ensembl 74_37 +1 known silent c.1023 p.S341 0.027 NULL pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN1 HGNC ENSG00000063245 tier1 - - 68 0 0.00 43 16 26.23 EPN1 0 genome.wustl.edu 37 19 56203184 56203184 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 56203184 56203184 G - DEL EPN1 ENST00000411543 human ensembl 74_37 +1 known frame_shift_del c.1085 p.G364fs 1.000 NULL pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN1 HGNC ENSG00000063245 tier1 36 0 0.00 22 5 18.52 EPS15L1 0 genome.wustl.edu 37 19 16472690 16472690 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 16472690 16472690 T - DEL EPS15L1 ENST00000455140 human ensembl 74_37 -1 known frame_shift_del c.2486 p.K829fs 1.000 NULL superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15L1 HGNC ENSG00000127527 tier1 71 0 0.00 52 25 32.47 EPS8L1 0 genome.wustl.edu 37 19 55598783 55598783 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 55598783 55598783 G A SNP EPS8L1 ENST00000201647 human ensembl 74_37 +1 known missense c.2065 p.V689M 0.998 superfamily_SAM/pointed pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L1 HGNC ENSG00000131037 tier1 - - 32 0 0.00 12 7 36.84 EPS8L3 0 genome.wustl.edu 37 1 110300959 110300959 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 110300959 110300959 G T SNP EPS8L3 ENST00000369805 human ensembl 74_37 -1 known silent c.699 p.P233 0.000 NULL pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L3 HGNC ENSG00000198758 76 0 0.00 53 3 5.36 ERAL1 0 genome.wustl.edu 37 17 27185670 27185670 + Missense_Mutation SNP A A C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 27185670 27185670 A C SNP ERAL1 ENST00000254928 human ensembl 74_37 +1 known missense c.788 p.K263T 0.939 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_GTP_binding_domain,pfam_MIRO-like,pfam_Dynamin_GTPase,pfam_AIG1,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_KH_prok-type,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors ERAL1 HGNC ENSG00000132591 tier1 - - 38 0 0.00 17 18 51.43 ERBB2 0 genome.wustl.edu 37 17 37866417 37866417 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 37866417 37866417 C T SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.722 p.A241V 0.999 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB2 HGNC ENSG00000141736 tier1 - - 28 0 0.00 16 10 38.46 ERBB2 0 genome.wustl.edu 37 17 37881000 37881000 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 37881000 37881000 G T SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.2329 p.V777L 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB2 HGNC ENSG00000141736 tier1 rs121913471 - 99 0 0.00 46 20 30.30 ERBB3 0 genome.wustl.edu 37 12 56495024 56495024 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 56495024 56495024 C T SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known silent c.3381 p.R1127 0.134 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 tier1 - - 16 0 0.00 10 10 50.00 ERBB4 0 genome.wustl.edu 37 2 212989493 212989493 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 212989493 212989493 T C SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.218 p.D73G 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 tier1 - - 43 0 0.00 16 20 55.56 ERC2 0 genome.wustl.edu 37 3 55544295 55544298 + RNA DEL AAAA AAAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 55544295 55544298 AAAA - DEL ERC2 ENST00000484530 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.000:0.000 - - - no_errors ERC2 HGNC ENSG00000187672 tier1 26 0 0.00 10 7 41.18 ERC2 0 genome.wustl.edu 37 3 56330173 56330173 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 56330173 56330173 G T SNP ERC2 ENST00000288221 human ensembl 74_37 -1 known silent c.948 p.G316 0.240 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 tier1 - - 99 0 0.00 84 6 6.67 ERCC6 0 genome.wustl.edu 37 10 50684358 50684358 + Splice_Site SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 50684358 50684358 T C SNP ERCC6 ENST00000355832 human ensembl 74_37 -1 known splice_site c.2287-2 e11-2 0.993 - - - no_errors ERCC6 HGNC ENSG00000225830 tier1 - - 34 0 0.00 19 18 47.37 ERCC8 0 genome.wustl.edu 37 5 60187968 60187968 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 60187968 60187968 T - DEL ERCC8 ENST00000462279 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ERCC8 HGNC ENSG00000049167 tier1 60 0 0.00 31 6 16.22 ERF 0 genome.wustl.edu 37 19 42753368 42753368 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 42753368 42753368 C - DEL ERF ENST00000222329 human ensembl 74_37 -1 known frame_shift_del c.896 p.G299fs 0.941 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ERF HGNC ENSG00000105722 tier1 52 0 0.00 19 15 44.12 ERG 0 genome.wustl.edu 37 21 39947607 39947607 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 39947607 39947607 C T SNP ERG ENST00000398919 human ensembl 74_37 -1 known silent c.18 p.P6 0.470 NULL pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ERG HGNC ENSG00000157554 tier1 - - 43 0 0.00 31 12 27.91 ERO1LB 0 genome.wustl.edu 37 1 236415381 236415381 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 236415381 236415381 G A SNP ERO1LB ENST00000354619 human ensembl 74_37 -1 known missense c.317 p.P106L 1.000 pfam_Ero1,pirsf_Ero1 pfam_Ero1,pirsf_Ero1 - no_errors ERO1LB HGNC ENSG00000086619 tier1 - - 25 0 0.00 18 14 43.75 ERP29 0 genome.wustl.edu 37 12 112457621 112457623 + In_Frame_Del DEL AGC AGC - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AGC AGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 112457621 112457623 AGC - DEL ERP29 ENST00000261735 human ensembl 74_37 +1 known in_frame_del c.206_208 p.Q70in_frame_del 1.000:1.000:1.000 pfam_ERp29_N,superfamily_Thioredoxin-like_fold,pirsf_ER_p29 pfam_ERp29_N,pfam_ER_p29_C,superfamily_ER_p29_C,superfamily_Thioredoxin-like_fold,pirsf_ER_p29 - no_errors ERP29 HGNC ENSG00000089248 tier1 64 0 0.00 36 29 44.62 ESRP1 0 genome.wustl.edu 37 8 95686611 95686611 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 95686611 95686611 A - DEL ESRP1 ENST00000433389 human ensembl 74_37 +1 known frame_shift_del c.1528 p.N512fs 1.000 smart_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 tier1 98 0 0.00 80 21 20.79 ETAA1 0 genome.wustl.edu 37 2 67626314 67626314 + Silent SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 67626314 67626314 A G SNP ETAA1 ENST00000272342 human ensembl 74_37 +1 known silent c.237 p.T79 0.896 NULL NULL - no_errors ETAA1 HGNC ENSG00000143971 tier1 - - 58 0 0.00 31 25 44.64 ETV3 0 genome.wustl.edu 37 1 157094756 157094756 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 157094756 157094756 G - DEL ETV3 ENST00000368192 human ensembl 74_37 -1 known frame_shift_del c.1416 p.K473fs 0.991 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV3 HGNC ENSG00000117036 tier1 41 0 0.00 43 13 23.21 EVC2 0 genome.wustl.edu 37 4 5617231 5617231 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 5617231 5617231 C T SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known missense c.2747 p.S916N 0.485 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 tier1 - - 77 0 0.00 64 25 28.09 EXOC4 0 genome.wustl.edu 37 7 133059721 133059721 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 133059721 133059721 G T SNP EXOC4 ENST00000253861 human ensembl 74_37 +1 known missense c.1147 p.A383S 1.000 NULL pfam_Sec8_exocyst - no_errors EXOC4 HGNC ENSG00000131558 tier1 - - 48 0 0.00 33 14 29.79 EXOSC10 0 genome.wustl.edu 37 1 11136981 11136981 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 11136981 11136981 G A SNP EXOSC10 ENST00000376936 human ensembl 74_37 -1 known missense c.1904 p.A635V 0.056 NULL pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_HRDC_dom,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_HRDC_dom,pfscan_HRDC_dom - no_errors EXOSC10 HGNC ENSG00000171824 tier1 - - 25 0 0.00 21 17 44.74 F2R 0 genome.wustl.edu 37 5 76028423 76028423 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 76028423 76028423 G A SNP F2R ENST00000319211 human ensembl 74_37 +1 known missense c.373 p.V125I 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thrmbn_rcpt,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors F2R HGNC ENSG00000181104 tier1 - - 94 0 0.00 59 42 41.58 F8 0 genome.wustl.edu 37 X 154194908 154194908 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 154194908 154194908 C T SNP F8 ENST00000360256 human ensembl 74_37 -1 known missense c.1064 p.R355Q 0.001 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 tier1 rs146581224 - 35 0 0.00 7 27 79.41 FADS2 0 genome.wustl.edu 37 11 61615632 61615632 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 61615632 61615632 G T SNP FADS2 ENST00000278840 human ensembl 74_37 +1 known missense c.620 p.G207V 1.000 pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5-like_heme/steroid-bd - no_errors FADS2 HGNC ENSG00000134824 tier1 - - 69 0 0.00 37 4 9.76 FAHD2A 0 genome.wustl.edu 37 2 96078465 96078466 + Frame_Shift_Ins INS - - C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 96078465 96078466 - C INS FAHD2A ENST00000233379 human ensembl 74_37 +1 known frame_shift_ins c.835_836 p.G282fs 1.000:0.997 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel - no_errors FAHD2A HGNC ENSG00000115042 tier1 67 0 0.00 36 18 33.33 FAHD2B 0 genome.wustl.edu 37 2 97749725 97749725 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 97749725 97749725 G - DEL FAHD2B ENST00000272610 human ensembl 74_37 -1 known frame_shift_del c.842 p.P281fs 1.000 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel - no_errors FAHD2B HGNC ENSG00000144199 tier1 80 0 0.00 58 24 29.27 FAHD2B 0 genome.wustl.edu 37 2 97756048 97756048 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 97756048 97756048 T C SNP FAHD2B ENST00000272610 human ensembl 74_37 -1 known missense c.260 p.Q87R 0.189 NULL pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel - no_errors FAHD2B HGNC ENSG00000144199 tier1 - - 123 0 0.00 58 34 36.96 FAHD2B 0 genome.wustl.edu 37 2 97757244 97757244 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 97757244 97757244 G A SNP FAHD2B ENST00000272610 human ensembl 74_37 -1 known missense c.200 p.T67M 0.991 NULL pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel - no_errors FAHD2B HGNC ENSG00000144199 tier1 - - 102 0 0.00 49 36 42.35 FAM104B 0 genome.wustl.edu 37 X 55172586 55172586 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 55172586 55172586 G A SNP FAM104B ENST00000425133 human ensembl 74_37 -1 known silent c.282 p.S94 0.008 NULL NULL - no_errors FAM104B HGNC ENSG00000182518 28 0 0.00 50 4 7.41 FAM111B 0 genome.wustl.edu 37 11 58892343 58892343 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 58892343 58892343 A G SNP FAM111B ENST00000343597 human ensembl 74_37 +1 known missense c.773 p.E258G 0.001 NULL superfamily_Trypsin-like_Pept_dom - no_errors FAM111B HGNC ENSG00000189057 tier1 - - 25 0 0.00 15 8 34.78 FAM111B 0 genome.wustl.edu 37 11 58893105 58893105 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 58893105 58893105 G T SNP FAM111B ENST00000343597 human ensembl 74_37 +1 known missense c.1535 p.C512F 0.001 superfamily_Trypsin-like_Pept_dom superfamily_Trypsin-like_Pept_dom - no_errors FAM111B HGNC ENSG00000189057 35 0 0.00 39 3 7.14 FAM117A 0 genome.wustl.edu 37 17 47795063 47795063 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 47795063 47795063 G T SNP FAM117A ENST00000240364 human ensembl 74_37 -1 known missense c.722 p.P241H 0.985 NULL NULL - no_errors FAM117A HGNC ENSG00000121104 tier1 - - 72 0 0.00 48 5 9.43 FAM120A 0 genome.wustl.edu 37 9 96259883 96259884 + Splice_Site INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 96259883 96259884 - A INS FAM120A ENST00000333936 human ensembl 74_37 +1 known splice_site_ins c.933+2_933+1 e4+2 1.000:0.997 - - - no_errors FAM120A HGNC ENSG00000048828 tier1 37 0 0.00 52 11 17.46 FAM124A 0 genome.wustl.edu 37 13 51825749 51825749 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 51825749 51825749 C T SNP FAM124A ENST00000280057 human ensembl 74_37 +1 known silent c.354 p.S118 0.001 NULL NULL - no_errors FAM124A HGNC ENSG00000150510 tier1 - - 21 0 0.00 18 8 30.77 FAM131A 0 genome.wustl.edu 37 3 184062461 184062461 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 184062461 184062461 G A SNP FAM131A ENST00000383847 human ensembl 74_37 +1 known silent c.804 p.P268 0.001 NULL NULL - no_errors FAM131A HGNC ENSG00000175182 tier1 - - 113 0 0.00 66 34 34.00 FAM131C 0 genome.wustl.edu 37 1 16385004 16385004 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 16385004 16385004 G A SNP FAM131C ENST00000375662 human ensembl 74_37 -1 known silent c.771 p.T257 0.004 NULL superfamily_Chromodomain-like - no_errors FAM131C HGNC ENSG00000185519 63 0 0.00 58 6 9.38 FAM133A 0 genome.wustl.edu 37 X 92964950 92964950 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 92964950 92964950 A - DEL FAM133A ENST00000322139 human ensembl 74_37 +1 known frame_shift_del c.532 p.R180fs 0.996 NULL NULL - no_errors FAM133A HGNC ENSG00000179083 tier1 13 0 0.00 3 6 66.67 FAM135B 0 genome.wustl.edu 37 8 139144926 139144926 + Silent SNP C C G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 139144926 139144926 C G SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known silent c.4131 p.L1377 1.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 tier1 - - 43 0 0.00 37 25 40.32 FAM135B 0 genome.wustl.edu 37 8 139151309 139151309 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 139151309 139151309 G T SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.3821 p.S1274Y 1.000 pfam_DUF676_lipase-like pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 tier1 - - 60 0 0.00 49 17 25.76 FAM135B 0 genome.wustl.edu 37 8 139163952 139163952 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 139163952 139163952 G T SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known silent c.2766 p.G922 0.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 35 0 0.00 41 3 6.82 FAM13A 0 genome.wustl.edu 37 4 89708944 89708946 + In_Frame_Del DEL GGC GGC - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 GGC GGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 89708944 89708946 GGC - DEL FAM13A ENST00000264344 human ensembl 74_37 -1 known in_frame_del c.1231_1229 p.R410in_frame_del 0.947:0.929:0.952 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13A HGNC ENSG00000138640 tier1 45 0 0.00 29 18 38.30 FAM151A 0 genome.wustl.edu 37 1 55081757 55081757 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 55081757 55081757 G - DEL FAM151A ENST00000302250 human ensembl 74_37 -1 known frame_shift_del c.351 p.T118fs 0.037 pfam_DUF2181 pfam_DUF2181 - no_errors FAM151A HGNC ENSG00000162391 tier1 43 0 0.00 29 15 34.09 FAM155B 0 genome.wustl.edu 37 X 68725612 68725613 + Frame_Shift_Ins INS - - C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 68725612 68725613 - C INS FAM155B ENST00000252338 human ensembl 74_37 +1 known frame_shift_ins c.487_488 p.L166fs 0.069:0.029 NULL NULL - no_errors FAM155B HGNC ENSG00000130054 tier1 25 0 0.00 9 13 59.09 FAM155B 0 genome.wustl.edu 37 X 68725612 68725613 + Frame_Shift_Ins INS - - CC TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 68725612 68725613 - CC INS FAM155B ENST00000252338 human ensembl 74_37 +1 known frame_shift_ins c.487_488 p.L167fs 0.069:0.029 NULL NULL - no_errors FAM155B HGNC ENSG00000130054 tier1 25 0 0.00 19 3 13.64 FAM155B 0 genome.wustl.edu 37 X 68725688 68725688 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 68725688 68725688 A G SNP FAM155B ENST00000252338 human ensembl 74_37 +1 known missense c.563 p.K188R 1.000 NULL NULL - no_errors FAM155B HGNC ENSG00000130054 tier1 - - 21 0 0.00 1 13 92.86 FAM163A 0 genome.wustl.edu 37 1 179783147 179783147 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 179783147 179783147 G A SNP FAM163A ENST00000341785 human ensembl 74_37 +1 known silent c.327 p.T109 0.977 NULL NULL - no_errors FAM163A HGNC ENSG00000143340 tier1 - - 62 0 0.00 44 25 36.23 FAM166A 0 genome.wustl.edu 37 9 140140255 140140255 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 140140255 140140255 C T SNP FAM166A ENST00000344774 human ensembl 74_37 -1 known missense c.107 p.G36E 1.000 pfam_UPF0573/UPF0605 pfam_UPF0573/UPF0605 - no_errors FAM166A HGNC ENSG00000188163 tier1 - - 30 0 0.00 17 4 19.05 FAM171A1 0 genome.wustl.edu 37 10 15256454 15256454 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 15256454 15256454 G T SNP FAM171A1 ENST00000378116 human ensembl 74_37 -1 known missense c.1133 p.S378Y 0.319 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 tier1 - - 46 0 0.00 50 4 7.41 FAM174A 0 genome.wustl.edu 37 5 99871109 99871109 + RNA SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 99871109 99871109 C A SNP FAM174A ENST00000509040 human ensembl 74_37 +1 putative rna NULL NULL 0.036 - - - no_errors FAM174A HGNC ENSG00000174132 tier1 - - 69 0 0.00 37 32 46.38 FAM179B 0 genome.wustl.edu 37 14 45433438 45433438 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 45433438 45433438 C T SNP FAM179B ENST00000361577 human ensembl 74_37 +1 known missense c.1814 p.A605V 0.895 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 tier1 - - 62 0 0.00 33 19 36.54 FAM184A 0 genome.wustl.edu 37 6 119338013 119338013 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 119338013 119338013 C T SNP FAM184A ENST00000338891 human ensembl 74_37 -1 known missense c.1429 p.E477K 1.000 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 tier1 - - 62 0 0.00 50 32 39.02 FAM184B 0 genome.wustl.edu 37 4 17634191 17634191 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 17634191 17634191 C T SNP FAM184B ENST00000265018 human ensembl 74_37 -1 known silent c.3147 p.P1049 0.000 NULL NULL - no_errors FAM184B HGNC ENSG00000047662 tier1 - - 137 0 0.00 98 65 39.88 FAM184B 0 genome.wustl.edu 37 4 17634192 17634192 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 17634192 17634192 G A SNP FAM184B ENST00000265018 human ensembl 74_37 -1 known missense c.3146 p.P1049L 0.000 NULL NULL - no_errors FAM184B HGNC ENSG00000047662 tier1 - - 137 0 0.00 112 50 30.49 FAM184B 0 genome.wustl.edu 37 4 17711179 17711179 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 17711179 17711179 G A SNP FAM184B ENST00000265018 human ensembl 74_37 -1 known missense c.230 p.A77V 0.018 NULL NULL - no_errors FAM184B HGNC ENSG00000047662 tier1 - - 58 0 0.00 33 13 28.26 FAM204A 0 genome.wustl.edu 37 10 120095902 120095902 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 120095902 120095902 C T SNP FAM204A ENST00000369172 human ensembl 74_37 -1 known missense c.26 p.G9D 1.000 NULL NULL - no_errors FAM204A HGNC ENSG00000165669 tier1 - - 76 0 0.00 30 23 43.40 FAM205B 0 genome.wustl.edu 37 9 34834815 34834815 + RNA SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 34834815 34834815 G T SNP FAM205B ENST00000455647 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM205B HGNC ENSG00000257198 tier1 - - 38 0 0.00 54 4 6.90 FAM206A 0 genome.wustl.edu 37 9 111698011 111698011 + RNA SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 111698011 111698011 T C SNP FAM206A ENST00000466200 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors FAM206A HGNC ENSG00000119328 tier1 - - 17 0 0.00 15 7 31.82 FAM214B 0 genome.wustl.edu 37 9 35106613 35106613 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 35106613 35106613 C T SNP FAM214B ENST00000322813 human ensembl 74_37 -1 known silent c.981 p.G327 0.463 NULL NULL - no_errors FAM214B HGNC ENSG00000005238 tier1 - - 29 0 0.00 12 9 42.86 FAM227A 0 genome.wustl.edu 37 22 39024946 39024946 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 39024946 39024946 A - DEL FAM227A ENST00000543295 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM227A HGNC ENSG00000184949 tier1 37 0 0.00 13 7 35.00 FAM228B 0 genome.wustl.edu 37 2 24392365 24392365 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 24392365 24392365 A - DEL FAM228B ENST00000468799 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM228B HGNC ENSG00000219626 tier1 15 0 0.00 4 5 55.56 FAM230A 0 genome.wustl.edu 37 22 20708955 20708955 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 20708955 20708955 C T SNP FAM230A ENST00000434783 human ensembl 74_37 +1 known silent c.687 p.V229 0.052 superfamily_Kinase-like_dom pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors FAM230A HGNC ENSG00000188280 tier1 - - 62 0 0.00 25 28 52.83 FAM230A 0 genome.wustl.edu 37 22 20710199 20710199 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 20710199 20710199 C T SNP FAM230A ENST00000434783 human ensembl 74_37 +1 known missense c.1931 p.A644V 0.004 superfamily_Kinase-like_dom pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors FAM230A HGNC ENSG00000188280 tier1 - - 77 0 0.00 53 28 34.57 FAM230A 0 genome.wustl.edu 37 22 20710754 20710754 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 20710754 20710754 C T SNP FAM230A ENST00000434783 human ensembl 74_37 +1 known missense c.2486 p.T829M 0.000 NULL pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors FAM230A HGNC ENSG00000188280 tier1 - - 262 0 0.00 168 33 16.42 FAM230B 0 genome.wustl.edu 37 22 21539696 21539696 + RNA SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 21539696 21539696 T C SNP FAM230B ENST00000451257 human ensembl 74_37 +1 known rna NULL NULL 0.566 - - - no_errors FAM230B HGNC ENSG00000215498 tier1 - - 74 0 0.00 50 11 18.03 FAM25C 0 genome.wustl.edu 37 10 49207770 49207770 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 49207770 49207770 G A SNP FAM25C ENST00000342763 human ensembl 74_37 -1 known silent c.30 p.A10 0.005 prints_FAM25 prints_FAM25 - no_errors FAM25C HGNC ENSG00000188279 tier1 - - 184 0 0.00 135 29 17.68 FAM26E 0 genome.wustl.edu 37 6 116836792 116836792 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 116836792 116836792 G A SNP FAM26E ENST00000368599 human ensembl 74_37 +1 known silent c.570 p.A190 0.236 NULL NULL - no_errors FAM26E HGNC ENSG00000178033 tier1 - - 61 0 0.00 64 25 28.09 FAM71A 0 genome.wustl.edu 37 1 212798457 212798457 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 212798457 212798457 C A SNP FAM71A ENST00000294829 human ensembl 74_37 +1 known missense c.238 p.L80I 0.453 NULL pfam_DUF3699 - no_errors FAM71A HGNC ENSG00000162771 tier1 - - 83 0 0.00 73 29 28.43 FAM71E2 0 genome.wustl.edu 37 19 55869962 55869962 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 55869962 55869962 C A SNP FAM71E2 ENST00000424985 human ensembl 74_37 -1 novel missense c.2274 p.Q758H 0.000 NULL pfam_DUF3699 - no_errors FAM71E2 HGNC ENSG00000180043 tier1 - - 83 0 0.00 43 32 42.67 FAM83C 0 genome.wustl.edu 37 20 33875260 33875260 + Missense_Mutation SNP A A C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 33875260 33875260 A C SNP FAM83C ENST00000374408 human ensembl 74_37 -1 known missense c.1322 p.V441G 0.067 NULL pfam_DUF1669 - no_errors FAM83C HGNC ENSG00000125998 tier1 - - 59 0 0.00 36 23 38.98 FAM83E 0 genome.wustl.edu 37 19 49113185 49113185 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 49113185 49113185 G A SNP FAM83E ENST00000263266 human ensembl 74_37 -1 known missense c.706 p.R236W 0.882 pfam_DUF1669 pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase - no_errors FAM83E HGNC ENSG00000105523 tier1 - - 77 0 0.00 38 20 34.48 FAM83G 0 genome.wustl.edu 37 17 18891589 18891589 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 18891589 18891589 G A SNP FAM83G ENST00000345041 human ensembl 74_37 -1 known missense c.661 p.R221W 1.000 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83G HGNC ENSG00000188522 tier1 - - 53 0 0.00 30 14 31.82 FAM84B 0 genome.wustl.edu 37 8 127568850 127568850 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 127568850 127568850 C T SNP FAM84B ENST00000304916 human ensembl 74_37 -1 known missense c.785 p.R262H 0.994 NULL pfam_LRAT-like_dom - no_errors FAM84B HGNC ENSG00000168672 tier1 - - 93 0 0.00 67 17 20.24 FAM86B3P 0 genome.wustl.edu 37 8 8098200 8098200 + RNA SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 8098200 8098200 A G SNP FAM86B3P ENST00000310542 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors FAM86B3P HGNC ENSG00000173295 tier1 - - 75 0 0.00 94 19 16.81 FAM87A 0 genome.wustl.edu 37 8 327602 327602 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 327602 327602 C T SNP FAM87A ENST00000330148 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors FAM87A HGNC ENSG00000182366 13 0 0.00 17 8 32.00 FAM98A 0 genome.wustl.edu 37 2 33810498 33810498 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 33810498 33810498 C A SNP FAM98A ENST00000238823 human ensembl 74_37 -1 known missense c.902 p.R301M 1.000 pfam_Uncharacterised_FAM98 pfam_Uncharacterised_FAM98 - no_errors FAM98A HGNC ENSG00000119812 tier1 - - 25 0 0.00 12 7 36.84 FANCE 0 genome.wustl.edu 37 6 35425714 35425715 + Frame_Shift_Ins INS - - C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 35425714 35425715 - C INS FANCE ENST00000229769 human ensembl 74_37 +1 known frame_shift_ins c.922_923 p.V311fs 0.000:0.000 pfam_Fanconi_anaemia_gr_E_prot_C pfam_Fanconi_anaemia_gr_E_prot_C - no_errors FANCE HGNC ENSG00000112039 tier1 47 0 0.00 41 14 25.45 FANCF 0 genome.wustl.edu 37 11 22646528 22646528 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 22646528 22646528 G A SNP FANCF ENST00000327470 human ensembl 74_37 -1 known silent c.829 p.L277 0.592 NULL NULL - no_errors FANCF HGNC ENSG00000183161 tier1 - - 27 0 0.00 20 14 41.18 FANCM 0 genome.wustl.edu 37 14 45645955 45645955 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 45645955 45645955 A - DEL FANCM ENST00000267430 human ensembl 74_37 +1 known frame_shift_del c.3998 p.V1336fs 0.008 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 tier1 34 0 0.00 31 14 31.11 FARP1 0 genome.wustl.edu 37 13 99047581 99047581 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 99047581 99047581 C T SNP FARP1 ENST00000376586 human ensembl 74_37 +1 known missense c.1265 p.P422L 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP1 HGNC ENSG00000152767 tier1 - - 35 0 0.00 19 23 54.76 FASN 0 genome.wustl.edu 37 17 80041180 80041180 + Silent SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 80041180 80041180 C A SNP FASN ENST00000306749 human ensembl 74_37 -1 known silent c.5463 p.G1821 0.002 smart_PKS_ER pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 tier1 - - 117 0 0.00 42 27 39.13 FASN 0 genome.wustl.edu 37 17 80047566 80047566 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 80047566 80047566 G - DEL FASN ENST00000306749 human ensembl 74_37 -1 known frame_shift_del c.1907 p.P636fs 0.705 pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_acyl_transferase pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 tier1 89 0 0.00 40 30 42.86 FASTKD5 0 genome.wustl.edu 37 20 3128000 3128001 + Frame_Shift_Ins INS - - C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 3128000 3128001 - C INS FASTKD5 ENST00000380266 human ensembl 74_37 -1 known frame_shift_ins c.1717_1716 p.P572fs 1.000:0.997 pfam_FAST_2 pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD5 HGNC ENSG00000215251 tier1 17 0 0.00 15 8 34.78 FAT3 0 genome.wustl.edu 37 11 92085985 92085985 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 92085985 92085985 G T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.707 p.R236L 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 66 0 0.00 57 4 6.56 FAT3 0 genome.wustl.edu 37 11 92534013 92534013 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 92534013 92534013 G T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.7834 p.D2612Y 0.998 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 56 0 0.00 26 26 50.00 FAT3 0 genome.wustl.edu 37 11 92534496 92534496 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 92534496 92534496 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.8317 p.R2773C 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 52 0 0.00 33 17 34.00 FAT3 0 genome.wustl.edu 37 11 92577336 92577336 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 92577336 92577336 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.10803 p.H3601 0.067 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 94 0 0.00 31 28 46.67 FAT3 0 genome.wustl.edu 37 11 92600024 92600024 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 92600024 92600024 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.11776 p.R3926C 0.994 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 75 0 0.00 39 30 43.48 FAT4 0 genome.wustl.edu 37 4 126408620 126408620 + Nonsense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 126408620 126408620 G T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known nonsense c.12937 p.G4313* 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 43 0 0.00 38 2 5.00 FBN2 0 genome.wustl.edu 37 5 127607801 127607801 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 127607801 127607801 T C SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.7850 p.E2617G 1.000 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 tier1 - - 48 0 0.00 22 28 56.00 FBN2 0 genome.wustl.edu 37 5 127638705 127638705 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 127638705 127638705 G A SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known silent c.5877 p.C1959 1.000 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 tier1 - - 44 0 0.00 24 30 55.56 FBN2 0 genome.wustl.edu 37 5 127873215 127873215 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 127873215 127873215 C T SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.82 p.G28S 0.089 pirsf_FBN pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 tier1 - - 24 0 0.00 10 11 52.38 FBN3 0 genome.wustl.edu 37 19 8153004 8153004 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 8153004 8153004 C T SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known missense c.6436 p.G2146R 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 tier1 - - 68 0 0.00 35 19 35.19 FBRS 0 genome.wustl.edu 37 16 30675549 30675549 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 30675549 30675549 C - DEL FBRS ENST00000356166 human ensembl 74_37 +1 known frame_shift_del c.1069 p.K359fs 1.000 NULL prints_AUTS2 - no_errors FBRS HGNC ENSG00000156860 tier1 53 0 0.00 28 8 22.22 FBRS 0 genome.wustl.edu 37 16 30680769 30680769 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 30680769 30680769 T C SNP FBRS ENST00000356166 human ensembl 74_37 +1 known missense c.2746 p.Y916H 0.994 NULL prints_AUTS2 - no_errors FBRS HGNC ENSG00000156860 tier1 - - 47 0 0.00 31 14 31.11 FBXO18 0 genome.wustl.edu 37 10 5957464 5957464 + Nonsense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 5957464 5957464 G T SNP FBXO18 ENST00000379999 human ensembl 74_37 +1 known nonsense c.1648 p.E550* 0.004 superfamily_P-loop_NTPase pfam_UvrD-like_ATP-bd,pfam_F-box_dom,superfamily_P-loop_NTPase,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO18 HGNC ENSG00000134452 53 0 0.00 56 3 5.08 FBXO25 0 genome.wustl.edu 37 8 382898 382898 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 382898 382898 A - DEL FBXO25 ENST00000276326 human ensembl 74_37 +1 known frame_shift_del c.251 p.K85fs 1.000 NULL superfamily_F-box_dom - no_errors FBXO25 HGNC ENSG00000147364 tier1 122 0 0.00 154 40 20.62 FBXO43 0 genome.wustl.edu 37 8 101153207 101153207 + Silent SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 101153207 101153207 A G SNP FBXO43 ENST00000428847 human ensembl 74_37 -1 known silent c.1275 p.D425 0.000 NULL pfam_Znf_C6HC,superfamily_F-box_dom,smart_Znf_C6HC - no_errors FBXO43 HGNC ENSG00000156509 tier1 - - 49 0 0.00 44 23 34.33 FBXO46 0 genome.wustl.edu 37 19 46215043 46215043 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 46215043 46215043 G A SNP FBXO46 ENST00000317683 human ensembl 74_37 -1 known missense c.1711 p.R571C 0.016 superfamily_F-box_dom superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO46 HGNC ENSG00000177051 tier1 - - 93 0 0.00 35 31 46.97 FBXO46 0 genome.wustl.edu 37 19 46215926 46215926 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 46215926 46215926 G A SNP FBXO46 ENST00000317683 human ensembl 74_37 -1 known silent c.828 p.S276 0.988 NULL superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO46 HGNC ENSG00000177051 11 0 0.00 2 4 66.67 FBXO6 0 genome.wustl.edu 37 1 11733420 11733420 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 11733420 11733420 A G SNP FBXO6 ENST00000376753 human ensembl 74_37 +1 known missense c.596 p.E199G 0.994 pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom pfam_F-box-assoc_dom,pfam_F-box_dom,superfamily_Galactose-bd-like,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom,pfscan_F-box-assoc_dom - no_errors FBXO6 HGNC ENSG00000116663 tier1 - - 57 0 0.00 24 11 30.56 FBXW10 0 genome.wustl.edu 37 17 18681823 18681823 + Missense_Mutation SNP T T A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 18681823 18681823 T A SNP FBXW10 ENST00000308799 human ensembl 74_37 +1 known missense c.2398 p.L800M 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW10 HGNC ENSG00000171931 tier1 - - 93 0 0.00 64 39 37.86 FBXW5 0 genome.wustl.edu 37 9 139836708 139836708 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 139836708 139836708 C T SNP FBXW5 ENST00000325285 human ensembl 74_37 -1 known missense c.886 p.A296T 0.000 superfamily_Quinoprot_gluc/sorb_DH pfam_WD40_repeat,pfam_F-box_dom,superfamily_Quinoprot_gluc/sorb_DH,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW5 HGNC ENSG00000159069 tier1 - - 66 0 0.00 28 23 45.10 FBXW7 0 genome.wustl.edu 37 4 153247289 153247289 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 153247289 153247289 G A SNP FBXW7 ENST00000281708 human ensembl 74_37 -1 known missense c.1513 p.R505C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 tier1 rs149680468 - 46 0 0.00 21 13 38.24 FCGBP 0 genome.wustl.edu 37 19 40395898 40395898 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 40395898 40395898 G A SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.7499 p.A2500V 0.288 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 tier1 - - 183 0 0.00 95 28 22.76 FCGBP 0 genome.wustl.edu 37 19 40421199 40421199 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 40421199 40421199 C T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.2722 p.E908K 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 tier1 - - 65 0 0.00 24 19 44.19 FCGR3B 0 genome.wustl.edu 37 1 161594337 161594337 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 161594337 161594337 C T SNP FCGR3B ENST00000294800 human ensembl 74_37 -1 known missense c.670 p.G224R 0.174 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCGR3B HGNC ENSG00000162747 tier1 - - 151 0 0.00 156 28 15.22 FCRL3 0 genome.wustl.edu 37 1 157660325 157660325 + Splice_Site SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 157660325 157660325 T C SNP FCRL3 ENST00000492769 human ensembl 74_37 -1 known splice_site c.1430-2 e8-2 0.871 - - - no_errors FCRL3 HGNC ENSG00000160856 tier1 - - 29 0 0.00 13 8 38.10 FEM1A 0 genome.wustl.edu 37 19 4792859 4792859 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 4792859 4792859 G - DEL FEM1A ENST00000269856 human ensembl 74_37 +1 known frame_shift_del c.993 p.G333fs 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1A HGNC ENSG00000141965 tier1 132 0 0.00 54 27 33.33 FER1L6 0 genome.wustl.edu 37 8 125131921 125131921 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 125131921 125131921 A - DEL FER1L6 ENST00000399018 human ensembl 74_37 +1 known frame_shift_del c.5464 p.K1823fs 1.000 superfamily_ABC1_TM_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 tier1 71 0 0.00 77 18 18.95 FER1L6-AS1 0 genome.wustl.edu 37 8 125026586 125026587 + RNA INS - - C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 125026586 125026587 - C INS FER1L6-AS1 ENST00000518567 human ensembl 74_37 -1 known rna NULL NULL 0.286:0.299 - - - no_errors FER1L6-AS1 HGNC ENSG00000181171 tier1 52 0 0.00 51 17 25.00 FERMT2 0 genome.wustl.edu 37 14 53360081 53360082 + Frame_Shift_Ins INS - - T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 53360081 53360082 - T INS FERMT2 ENST00000343279 human ensembl 74_37 -1 known frame_shift_ins c.456_455 p.K153fs 1.000:1.000 pfam_FERM_N,smart_Band_41_domain pfam_FERM_central,pfam_Pleckstrin_homology,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT2 HGNC ENSG00000073712 tier1 34 0 0.00 22 8 26.67 FGF10 0 genome.wustl.edu 37 5 44310592 44310592 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 44310592 44310592 G A SNP FGF10 ENST00000264664 human ensembl 74_37 -1 known silent c.366 p.A122 0.588 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF10 HGNC ENSG00000070193 tier1 rs200392834 - 88 0 0.00 133 39 22.67 FGF3 0 genome.wustl.edu 37 11 69631126 69631126 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 69631126 69631126 A G SNP FGF3 ENST00000334134 human ensembl 74_37 -1 known missense c.286 p.Y96H 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF3 HGNC ENSG00000186895 tier1 - - 77 0 0.00 34 27 44.26 FGFBP1 0 genome.wustl.edu 37 4 15938178 15938178 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 15938178 15938178 T - DEL FGFBP1 ENST00000259988 human ensembl 74_37 -1 known frame_shift_del c.78 p.V27fs 0.001 pfam_FGF1-bd pfam_FGF1-bd - no_errors FGFBP1 HGNC ENSG00000137440 tier1 77 0 0.00 54 18 25.00 FGFR1OP 0 genome.wustl.edu 37 6 167438458 167438458 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 167438458 167438458 T - DEL FGFR1OP ENST00000496181 human ensembl 74_37 +1 known rna NULL NULL 0.043 - - - no_errors FGFR1OP HGNC ENSG00000213066 tier1 16 0 0.00 17 11 39.29 FGFRL1 0 genome.wustl.edu 37 4 1018800 1018800 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 1018800 1018800 C A SNP FGFRL1 ENST00000264748 human ensembl 74_37 +1 known missense c.1180 p.L394M 0.699 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FGFRL1 HGNC ENSG00000127418 tier1 - - 51 0 0.00 22 10 31.25 FHOD3 0 genome.wustl.edu 37 18 34205516 34205516 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 34205516 34205516 C - DEL FHOD3 ENST00000257209 human ensembl 74_37 +1 known frame_shift_del c.1000 p.S336fs 0.999 superfamily_ARM-type_fold pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 tier1 81 0 0.00 42 25 37.31 FIGF 0 genome.wustl.edu 37 X 15364159 15364159 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 15364159 15364159 T - DEL FIGF ENST00000488351 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FIGF HGNC ENSG00000165197 tier1 17 0 0.00 5 13 72.22 FIGLA 0 genome.wustl.edu 37 2 71017547 71017547 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 71017547 71017547 C T SNP FIGLA ENST00000332372 human ensembl 74_37 -1 known missense c.224 p.R75H 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors FIGLA HGNC ENSG00000183733 tier1 - - 12 0 0.00 5 6 54.55 FLG 0 genome.wustl.edu 37 1 152277634 152277634 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 152277634 152277634 A G SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.9728 p.V3243A 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 rs3126068 - 164 0 0.00 166 53 24.20 FLG 0 genome.wustl.edu 37 1 152283692 152283692 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 152283692 152283692 T C SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.3670 p.K1224E 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 210 0 0.00 223 66 22.84 FLG 0 genome.wustl.edu 37 1 152283696 152283696 + Missense_Mutation SNP C C G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 152283696 152283696 C G SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.3666 p.K1222N 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 213 0 0.00 231 71 23.51 FLII 0 genome.wustl.edu 37 17 18150067 18150067 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 18150067 18150067 G A SNP FLII ENST00000327031 human ensembl 74_37 -1 known silent c.2892 p.G964 0.009 smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors FLII HGNC ENSG00000177731 tier1 - - 89 0 0.00 44 29 39.73 FLOT1 0 genome.wustl.edu 37 6 30697904 30697904 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 30697904 30697904 G A SNP FLOT1 ENST00000376389 human ensembl 74_37 -1 known silent c.1149 p.S383 0.980 NULL pfam_Band_7,smart_Band_7 - no_errors FLOT1 HGNC ENSG00000137312 tier1 - - 39 0 0.00 13 9 40.91 FLRT2 0 genome.wustl.edu 37 14 86089811 86089811 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 86089811 86089811 C T SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known silent c.1953 p.S651 0.922 NULL pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 tier1 - - 16 0 0.00 11 5 31.25 FLRT2 0 genome.wustl.edu 37 14 86090075 86090076 + RNA DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 86090075 86090076 AA - DEL FLRT2 ENST00000553650 human ensembl 74_37 +1 putative rna NULL NULL 1.000:1.000 - - - no_errors FLRT2 HGNC ENSG00000185070 tier1 44 0 0.00 25 12 32.43 FLT1 0 genome.wustl.edu 37 13 28893668 28893668 + Nonsense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 28893668 28893668 G A SNP FLT1 ENST00000282397 human ensembl 74_37 -1 known nonsense c.3178 p.R1060* 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt - no_errors FLT1 HGNC ENSG00000102755 11 0 0.00 14 3 17.65 FLYWCH1 0 genome.wustl.edu 37 16 2983467 2983467 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 2983467 2983467 C A SNP FLYWCH1 ENST00000399667 human ensembl 74_37 +1 known missense c.1133 p.P378Q 0.003 NULL pfam_Znf_FLYWCH - no_errors FLYWCH1 HGNC ENSG00000059122 tier1 - - 62 0 0.00 34 19 35.85 FMN2 0 genome.wustl.edu 37 1 240370225 240370225 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 240370225 240370225 G T SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.2113 p.A705S 0.002 NULL pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 tier1 - - 37 0 0.00 27 9 25.00 FMNL1 0 genome.wustl.edu 37 17 43319736 43319736 + Silent SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 43319736 43319736 T C SNP FMNL1 ENST00000328118 human ensembl 74_37 +1 known silent c.1914 p.T638 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL1 HGNC ENSG00000184922 tier1 - - 69 0 0.00 18 16 47.06 FNDC1 0 genome.wustl.edu 37 6 159653240 159653241 + Frame_Shift_Del DEL CT CT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 159653240 159653241 CT - DEL FNDC1 ENST00000297267 human ensembl 74_37 +1 known frame_shift_del c.1696_1697 p.L566fs 0.000:0.067 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 tier1 45 0 0.00 18 13 41.94 FOCAD 0 genome.wustl.edu 37 9 20988415 20988415 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 20988415 20988415 C T SNP FOCAD ENST00000338382 human ensembl 74_37 +1 known missense c.4991 p.T1664M 1.000 pfam_DUF3028 pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 tier1 - - 33 0 0.00 21 13 38.24 FOSL2 0 genome.wustl.edu 37 2 28634811 28634813 + In_Frame_Del DEL GGA GGA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 28634811 28634813 GGA - DEL FOSL2 ENST00000264716 human ensembl 74_37 +1 known in_frame_del c.477_479 p.E162in_frame_del 1.000:1.000:1.000 pfam_bZIP,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSL2 HGNC ENSG00000075426 tier1 33 0 0.00 23 16 41.03 FOXD1 0 genome.wustl.edu 37 5 72744084 72744086 + In_Frame_Del DEL TCC TCC - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 72744084 72744086 TCC - DEL FOXD1 ENST00000499003 human ensembl 74_37 -1 known in_frame_del c.104_102 p.E34in_frame_del 0.996:0.998:0.999 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD1 HGNC ENSG00000251493 tier1 20 0 0.00 16 8 33.33 FOXD4L5 0 genome.wustl.edu 37 9 70177789 70177789 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 70177789 70177789 G A SNP FOXD4L5 ENST00000377420 human ensembl 74_37 -1 known silent c.195 p.G65 0.026 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L5 HGNC ENSG00000204779 tier1 - - 84 0 0.00 68 12 15.00 FOXF1 0 genome.wustl.edu 37 16 86545069 86545069 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 86545069 86545069 C 0 DEL FOXF1 ENST00000262426 human ensembl 74_37 +1 known frame_shift_del c.894 p.L300fs 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXF1 HGNC ENSG00000103241 10 0 0.00 10 4 28.57 FOXI2 0 genome.wustl.edu 37 10 129536832 129536832 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 129536832 129536832 A G SNP FOXI2 ENST00000388920 human ensembl 74_37 +1 known missense c.560 p.D187G 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXI2 HGNC ENSG00000186766 tier1 - - 64 0 0.00 28 19 40.43 FOXN3 0 genome.wustl.edu 37 14 89878615 89878615 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 89878615 89878615 C T SNP FOXN3 ENST00000261302 human ensembl 74_37 -1 known missense c.206 p.S69N 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN3 HGNC ENSG00000053254 tier1 - - 44 0 0.00 32 12 27.27 FOXP1 0 genome.wustl.edu 37 3 71008342 71008344 + RNA DEL TTT TTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 71008342 71008344 TTT - DEL FOXP1 ENST00000460805 human ensembl 74_37 -1 known rna NULL NULL 0.439:0.024:0.024 - - - no_errors FOXP1 HGNC ENSG00000114861 tier1 39 0 0.00 33 11 25.00 FOXP1 0 genome.wustl.edu 37 3 71026132 71026132 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 71026132 71026132 C T SNP FOXP1 ENST00000318789 human ensembl 74_37 -1 known missense c.1490 p.R497Q 1.000 pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXP1 HGNC ENSG00000114861 tier1 - - 55 0 0.00 56 6 9.68 FOXP4 0 genome.wustl.edu 37 6 41554855 41554855 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 41554855 41554855 C T SNP FOXP4 ENST00000307972 human ensembl 74_37 +1 known missense c.619 p.P207S 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP4 HGNC ENSG00000137166 9 0 0.00 3 5 62.50 FPGS 0 genome.wustl.edu 37 9 130569113 130569113 + RNA DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 130569113 130569113 G - DEL FPGS ENST00000497386 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors FPGS HGNC ENSG00000136877 tier1 42 0 0.00 18 16 47.06 FRAS1 0 genome.wustl.edu 37 4 79350351 79350351 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 79350351 79350351 C T SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.4814 p.A1605V 0.277 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 tier1 - - 91 0 0.00 59 44 42.72 FRAS1 0 genome.wustl.edu 37 4 79371317 79371317 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 79371317 79371317 G A SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.6287 p.R2096H 0.025 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 tier1 - - 68 0 0.00 34 19 35.85 FREM2 0 genome.wustl.edu 37 13 39432168 39432168 + Missense_Mutation SNP A A C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 39432168 39432168 A C SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.7213 p.T2405P 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 tier1 - - 78 0 0.00 90 29 24.37 FRMD4A 0 genome.wustl.edu 37 10 13696452 13696452 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 13696452 13696452 G - DEL FRMD4A ENST00000357447 human ensembl 74_37 -1 known frame_shift_del c.3014 p.P1005fs 1.000 NULL pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 tier1 33 0 0.00 14 17 54.84 FRMD6 0 genome.wustl.edu 37 14 52156598 52156598 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 52156598 52156598 G T SNP FRMD6 ENST00000344768 human ensembl 74_37 +1 known missense c.44 p.R15L 1.000 smart_Band_41_domain pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD6 HGNC ENSG00000139926 51 0 0.00 23 3 11.54 FRZB 0 genome.wustl.edu 37 2 183731079 183731079 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 183731079 183731079 C T SNP FRZB ENST00000295113 human ensembl 74_37 -1 known missense c.202 p.A68T 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors FRZB HGNC ENSG00000162998 tier1 - - 115 0 0.00 49 35 41.67 FSIP2 0 genome.wustl.edu 37 2 186658445 186658445 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 186658445 186658445 A - DEL FSIP2 ENST00000343098 human ensembl 74_37 +1 known frame_shift_del c.6849 p.I2285fs 0.143 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 tier1 16 0 0.00 20 7 25.93 FSIP2 0 genome.wustl.edu 37 2 186666048 186666048 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 186666048 186666048 G A SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known silent c.12282 p.E4094 0.986 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 tier1 - - 51 0 0.00 30 22 42.31 FTMT 0 genome.wustl.edu 37 5 121187966 121187966 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 121187966 121187966 G A SNP FTMT ENST00000321339 human ensembl 74_37 +1 known missense c.308 p.R103Q 0.999 pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron - no_errors FTMT HGNC ENSG00000181867 tier1 - - 47 0 0.00 33 19 36.54 FTSJ2 0 genome.wustl.edu 37 7 2275111 2275111 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 2275111 2275111 G A SNP FTSJ2 ENST00000242257 human ensembl 74_37 -1 known silent c.387 p.D129 1.000 pfam_rRNA_MeTrfase_FtsJ_dom,pirsf_rRNA-MeTfrase_E pfam_rRNA_MeTrfase_FtsJ_dom,pirsf_rRNA-MeTfrase_E - no_errors FTSJ2 HGNC ENSG00000122687 tier1 - - 38 0 0.00 23 12 34.29 FUBP1 0 genome.wustl.edu 37 1 78444659 78444659 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 78444659 78444659 G - DEL FUBP1 ENST00000436586 human ensembl 74_37 -1 known frame_shift_del c.30 p.S11fs 0.020 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP1 HGNC ENSG00000162613 tier1 112 0 0.00 50 29 36.71 FUT7 0 genome.wustl.edu 37 9 139926112 139926112 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 139926112 139926112 G T SNP FUT7 ENST00000314412 human ensembl 74_37 -1 known missense c.79 p.L27I 0.026 NULL pfam_Glyco_trans_10 - no_errors FUT7 HGNC ENSG00000180549 tier1 - - 21 0 0.00 7 5 41.67 FZD10 0 genome.wustl.edu 37 12 130647719 130647719 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 130647719 130647719 G A SNP FZD10 ENST00000229030 human ensembl 74_37 +1 known missense c.232 p.G78S 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD10 HGNC ENSG00000111432 tier1 - - 33 0 0.00 9 15 62.50 FZD10 0 genome.wustl.edu 37 12 130648109 130648109 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 130648109 130648109 G A SNP FZD10 ENST00000229030 human ensembl 74_37 +1 known missense c.622 p.A208T 1.000 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD10 HGNC ENSG00000111432 19 0 0.00 13 3 18.75 FZR1 0 genome.wustl.edu 37 19 3534441 3534441 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 3534441 3534441 C T SNP FZR1 ENST00000395095 human ensembl 74_37 +1 known missense c.1370 p.A457V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FZR1 HGNC ENSG00000105325 tier1 - - 75 0 0.00 45 29 39.19 G2E3 0 genome.wustl.edu 37 14 31066642 31066642 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 31066642 31066642 C T SNP G2E3 ENST00000206595 human ensembl 74_37 +1 known missense c.545 p.A182V 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT - no_errors G2E3 HGNC ENSG00000092140 tier1 - - 23 0 0.00 27 13 32.50 GAA 0 genome.wustl.edu 37 17 78078888 78078888 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 78078888 78078888 G T SNP GAA ENST00000302262 human ensembl 74_37 +1 known missense c.503 p.R168L 0.822 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors GAA HGNC ENSG00000171298 tier1 - - 54 0 0.00 64 4 5.88 GABRA1 0 genome.wustl.edu 37 5 161300245 161300246 + Frame_Shift_Ins INS - - T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 161300245 161300246 - T INS GABRA1 ENST00000023897 human ensembl 74_37 +1 known frame_shift_ins c.378_379 p.H128fs 0.975:1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 tier1 61 0 0.00 52 18 25.71 GABRB1 0 genome.wustl.edu 37 4 47427773 47427773 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 47427773 47427773 G A SNP GABRB1 ENST00000295454 human ensembl 74_37 +1 known missense c.1163 p.S388N 0.191 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB1 HGNC ENSG00000163288 tier1 - - 59 0 0.00 32 16 33.33 GABRB3 0 genome.wustl.edu 37 15 26806289 26806289 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 26806289 26806289 G A SNP GABRB3 ENST00000299267 human ensembl 74_37 -1 known silent c.870 p.N290 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC ENSG00000166206 tier1 - - 77 0 0.00 45 32 41.56 GABRD 0 genome.wustl.edu 37 1 1961475 1961475 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 1961475 1961475 G A SNP GABRD ENST00000378585 human ensembl 74_37 +1 known silent c.1113 p.T371 0.732 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAd_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRD HGNC ENSG00000187730 tier1 - - 57 0 0.00 40 4 9.09 GABRG2 0 genome.wustl.edu 37 5 161580287 161580288 + Frame_Shift_Ins INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 161580287 161580288 - A INS GABRG2 ENST00000356592 human ensembl 74_37 +1 known frame_shift_ins c.1341_1342 p.M448fs 1.000:1.000 superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG2 HGNC ENSG00000113327 tier1 71 0 0.00 37 20 35.09 GAK 0 genome.wustl.edu 37 4 870338 870338 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 870338 870338 G T SNP GAK ENST00000314167 human ensembl 74_37 -1 known silent c.2034 p.A678 0.060 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_Kinase-like_dom,superfamily_DnaJ_domain,superfamily_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_domain,pfscan_Prot_kinase_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors GAK HGNC ENSG00000178950 tier1 - - 59 0 0.00 47 4 7.84 GAK 0 genome.wustl.edu 37 4 884355 884355 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 884355 884355 G - DEL GAK ENST00000314167 human ensembl 74_37 -1 known frame_shift_del c.1046 p.P349fs 0.018 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_Kinase-like_dom,superfamily_DnaJ_domain,superfamily_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_domain,pfscan_Prot_kinase_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors GAK HGNC ENSG00000178950 tier1 79 0 0.00 39 27 40.91 GAL3ST1 0 genome.wustl.edu 37 22 30951276 30951276 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 30951276 30951276 G A SNP GAL3ST1 ENST00000338911 human ensembl 74_37 -1 known silent c.936 p.N312 1.000 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST1 HGNC ENSG00000128242 tier1 - - 96 0 0.00 51 25 32.05 GAL3ST1 0 genome.wustl.edu 37 22 30953322 30953322 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 30953322 30953322 C T SNP GAL3ST1 ENST00000338911 human ensembl 74_37 -1 known missense c.58 p.A20T 0.021 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST1 HGNC ENSG00000128242 tier1 - - 45 0 0.00 8 8 50.00 GAL3ST3 0 genome.wustl.edu 37 11 65810450 65810450 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 65810450 65810450 C T SNP GAL3ST3 ENST00000312006 human ensembl 74_37 -1 known missense c.824 p.R275H 1.000 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST3 HGNC ENSG00000175229 tier1 - - 11 0 0.00 9 6 40.00 GALE 0 genome.wustl.edu 37 1 24124802 24124804 + RNA DEL TTT TTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 24124802 24124804 TTT - DEL GALE ENST00000467493 human ensembl 74_37 -1 known rna NULL NULL 0.017:0.021:0.022 - - - no_errors GALE HGNC ENSG00000117308 tier1 52 0 0.00 30 6 16.67 GALNT10 0 genome.wustl.edu 37 5 153789185 153789185 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 153789185 153789185 G A SNP GALNT10 ENST00000297107 human ensembl 74_37 +1 known missense c.1249 p.A417T 0.672 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT10 HGNC ENSG00000164574 tier1 - - 37 0 0.00 27 15 35.71 GALR1 0 genome.wustl.edu 37 18 74962958 74962958 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 74962958 74962958 G A SNP GALR1 ENST00000299727 human ensembl 74_37 +1 known missense c.454 p.A152T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GAL1_rcpt,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_NPY_rcpt - no_errors GALR1 HGNC ENSG00000166573 26 0 0.00 14 5 26.32 GALR2 0 genome.wustl.edu 37 17 74073035 74073035 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 74073035 74073035 C T SNP GALR2 ENST00000329003 human ensembl 74_37 +1 known silent c.687 p.R229 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GAL2_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_GAL2_rcpt - no_errors GALR2 HGNC ENSG00000182687 tier1 - - 53 0 0.00 13 18 58.06 GAPDHS 0 genome.wustl.edu 37 19 36034636 36034636 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 36034636 36034636 C T SNP GAPDHS ENST00000222286 human ensembl 74_37 +1 known silent c.963 p.L321 0.952 pirsf_GlycerAld/Erythrose_P_DH,pfam_GlycerAld_3-P_DH_cat,tigrfam_Glyceraldehyde-3-P_DH_1 pirsf_GlycerAld/Erythrose_P_DH,pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 - no_errors GAPDHS HGNC ENSG00000105679 tier1 - - 72 0 0.00 38 27 41.54 GARS 0 genome.wustl.edu 37 7 30661090 30661090 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 30661090 30661090 G T SNP GARS ENST00000389266 human ensembl 74_37 +1 known missense c.1441 p.V481L 1.000 pfscan_aa-tRNA-synth_II,tigrfam_tRNA-synt_gly pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,prints_tRNA-synt_gly,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_tRNA-synt_gly - no_errors GARS HGNC ENSG00000106105 59 0 0.00 58 4 6.45 GAS5 0 genome.wustl.edu 37 1 173834997 173834997 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 173834997 173834997 G A SNP GAS5 ENST00000414075 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GAS5 HGNC ENSG00000234741 tier1 - - 75 0 0.00 52 27 34.18 GATA3 0 genome.wustl.edu 37 10 8105978 8105979 + Frame_Shift_Ins INS - - G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 8105978 8105979 - G INS GATA3 ENST00000379328 human ensembl 74_37 +1 known frame_shift_ins c.801_802 p.A268fs 0.984:1.000 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 tier1 66 0 0.00 33 25 43.10 GBE1 0 genome.wustl.edu 37 3 81635292 81635292 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 81635292 81635292 C - DEL GBE1 ENST00000429644 human ensembl 74_37 -1 known frame_shift_del c.1286 p.G429fs 0.014 superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom - no_errors GBE1 HGNC ENSG00000114480 tier1 27 0 0.00 24 14 36.84 GBF1 0 genome.wustl.edu 37 10 104136853 104136853 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 104136853 104136853 G A SNP GBF1 ENST00000369983 human ensembl 74_37 +1 known missense c.4447 p.V1483M 0.999 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors GBF1 HGNC ENSG00000107862 tier1 - - 57 0 0.00 25 20 44.44 GBP3 0 genome.wustl.edu 37 1 89473442 89473442 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 89473442 89473442 T - DEL GBP3 ENST00000370481 human ensembl 74_37 -1 known frame_shift_del c.1753 p.T585fs 0.000 NULL pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP3 HGNC ENSG00000117226 tier1 147 0 0.00 116 54 31.76 GCC2 0 genome.wustl.edu 37 2 109086477 109086477 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 109086477 109086477 A - DEL GCC2 ENST00000309863 human ensembl 74_37 +1 known frame_shift_del c.692 p.N233fs 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 tier1 14 0 0.00 16 4 20.00 GCFC2 0 genome.wustl.edu 37 2 75916352 75916352 + Splice_Site SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 75916352 75916352 C A SNP GCFC2 ENST00000321027 human ensembl 74_37 -1 known splice_site c.1340-1 e10-1 1.000 - - - no_errors GCFC2 HGNC ENSG00000005436 tier1 - - 27 0 0.00 23 11 32.35 GCGR 0 genome.wustl.edu 37 17 79769607 79769607 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 79769607 79769607 C T SNP GCGR ENST00000400723 human ensembl 74_37 +1 known silent c.738 p.G246 0.932 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_glucagon_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt - no_errors GCGR HGNC ENSG00000215644 tier1 - - 123 0 0.00 69 37 34.58 GDAP2 0 genome.wustl.edu 37 1 118430389 118430389 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 118430389 118430389 G A SNP GDAP2 ENST00000369443 human ensembl 74_37 -1 known missense c.961 p.R321C 1.000 NULL pfam_Macro_dom,superfamily_CRAL-TRIO_dom,smart_Macro_dom,smart_CRAL-TRIO_dom,pfscan_Macro_dom - no_errors GDAP2 HGNC ENSG00000196505 tier1 rs146263543 - 119 0 0.00 91 41 31.06 GFPT2 0 genome.wustl.edu 37 5 179745817 179745817 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 179745817 179745817 T C SNP GFPT2 ENST00000253778 human ensembl 74_37 -1 known missense c.934 p.M312V 1.000 tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC ENSG00000131459 tier1 - - 58 0 0.00 19 21 52.50 GGNBP1 0 genome.wustl.edu 37 6 33556739 33556739 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 33556739 33556739 T C SNP GGNBP1 ENST00000374458 human ensembl 74_37 +1 known missense c.266 p.I89T 0.000 NULL NULL - no_errors GGNBP1 HGNC ENSG00000204188 tier1 - - 63 0 0.00 35 20 36.36 GGNBP2 0 genome.wustl.edu 37 17 34913100 34913100 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 34913100 34913100 C T SNP GGNBP2 ENST00000304718 human ensembl 74_37 +1 known missense c.352 p.P118S 1.000 NULL NULL - no_errors GGNBP2 HGNC ENSG00000005955 tier1 - - 91 0 0.00 41 29 41.43 GGNBP2 0 genome.wustl.edu 37 17 34934522 34934522 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 34934522 34934522 C T SNP GGNBP2 ENST00000304718 human ensembl 74_37 +1 known missense c.751 p.R251W 1.000 NULL NULL - no_errors GGNBP2 HGNC ENSG00000005955 tier1 - - 75 0 0.00 35 28 44.44 GGT7 0 genome.wustl.edu 37 20 33437806 33437806 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 33437806 33437806 G A SNP GGT7 ENST00000336431 human ensembl 74_37 -1 novel missense c.1783 p.R595C 1.000 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT7 HGNC ENSG00000131067 tier1 - - 88 0 0.00 39 30 43.48 GIPC1 0 genome.wustl.edu 37 19 14590322 14590322 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 14590322 14590322 G A SNP GIPC1 ENST00000345425 human ensembl 74_37 -1 known missense c.670 p.R224C 0.995 superfamily_PDZ,pirsf_UCP038083_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC1 HGNC ENSG00000123159 tier1 - - 32 0 0.00 14 12 46.15 GIPC3 0 genome.wustl.edu 37 19 3589527 3589527 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 3589527 3589527 G - DEL GIPC3 ENST00000322315 human ensembl 74_37 +1 known frame_shift_del c.679 p.A229fs 0.803 pirsf_UCP038083_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC3 HGNC ENSG00000179855 tier1 80 0 0.00 53 32 37.65 GJA3 0 genome.wustl.edu 37 13 20716933 20716933 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 20716933 20716933 G A SNP GJA3 ENST00000241125 human ensembl 74_37 -1 known silent c.495 p.A165 0.996 pfam_Connexin_CCC,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin46 - no_errors GJA3 HGNC ENSG00000121743 tier1 - - 68 0 0.00 49 49 50.00 GLI3 0 genome.wustl.edu 37 7 42005573 42005573 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 42005573 42005573 G 0 DEL GLI3 ENST00000395925 human ensembl 74_37 -1 known frame_shift_del c.3098 p.P1033fs 0.131 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 20 0 0.00 5 3 37.50 GLI4 0 genome.wustl.edu 37 8 144358905 144358905 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 144358905 144358905 C T SNP GLI4 ENST00000340042 human ensembl 74_37 +1 known silent c.1062 p.G354 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI4 HGNC ENSG00000250571 tier1 - - 33 0 0.00 27 16 37.21 GLIS1 0 genome.wustl.edu 37 1 53990500 53990500 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 53990500 53990500 G A SNP GLIS1 ENST00000312233 human ensembl 74_37 -1 known missense c.1018 p.R340C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS1 HGNC ENSG00000174332 tier1 - - 62 0 0.00 36 17 32.08 GLIS3 0 genome.wustl.edu 37 9 4286007 4286007 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 4286007 4286007 T - DEL GLIS3 ENST00000471664 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GLIS3 HGNC ENSG00000107249 tier1 45 0 0.00 20 9 31.03 GLS2 0 genome.wustl.edu 37 12 56881845 56881845 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 56881845 56881845 G T SNP GLS2 ENST00000311966 human ensembl 74_37 -1 known silent c.58 p.R20 0.898 NULL pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS2 HGNC ENSG00000135423 24 0 0.00 27 2 6.90 GMEB1 0 genome.wustl.edu 37 1 29041386 29041387 + RNA DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 29041386 29041387 AA - DEL GMEB1 ENST00000480454 human ensembl 74_37 +1 known rna NULL NULL 0.252:0.049 - - - no_errors GMEB1 HGNC ENSG00000162419 tier1 17 0 0.00 5 6 54.55 GMIP 0 genome.wustl.edu 37 19 19745476 19745476 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 19745476 19745476 C T SNP GMIP ENST00000203556 human ensembl 74_37 -1 known missense c.1924 p.A642T 0.756 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors GMIP HGNC ENSG00000089639 tier1 - - 77 0 0.00 35 20 36.36 GMIP 0 genome.wustl.edu 37 19 19748865 19748865 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 19748865 19748865 G A SNP GMIP ENST00000203556 human ensembl 74_37 -1 known missense c.791 p.A264V 0.009 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors GMIP HGNC ENSG00000089639 tier1 - - 39 0 0.00 13 8 38.10 GNA12 0 genome.wustl.edu 37 7 2768249 2768249 + RNA SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 2768249 2768249 C A SNP GNA12 ENST00000491117 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors GNA12 HGNC ENSG00000146535 tier1 - - 16 0 0.00 15 16 51.61 GNAI2 0 genome.wustl.edu 37 3 50294248 50294248 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 50294248 50294248 C T SNP GNAI2 ENST00000313601 human ensembl 74_37 +1 known silent c.687 p.S229 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_Gprotein_alpha - no_errors GNAI2 HGNC ENSG00000114353 tier1 - - 145 0 0.00 59 43 42.16 GNB1 0 genome.wustl.edu 37 1 1720538 1720538 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 1720538 1720538 G A SNP GNB1 ENST00000378609 human ensembl 74_37 -1 known silent c.870 p.D290 0.857 pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GNB1 HGNC ENSG00000078369 tier1 - - 40 0 0.00 22 10 31.25 GNB1L 0 genome.wustl.edu 37 22 19808206 19808206 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 19808206 19808206 G A SNP GNB1L ENST00000329517 human ensembl 74_37 -1 known missense c.169 p.R57W 0.978 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GNB1L HGNC ENSG00000185838 tier1 rs138225912 - 69 0 0.00 23 27 54.00 GNE 0 genome.wustl.edu 37 9 36249366 36249366 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 36249366 36249366 C T SNP GNE ENST00000396594 human ensembl 74_37 -1 known missense c.80 p.R27Q 0.000 NULL pfam_UDP_GlcNAc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-GlcNAc_Epase - no_errors GNE HGNC ENSG00000159921 14 0 0.00 12 4 25.00 GOLGA3 0 genome.wustl.edu 37 12 133349866 133349866 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 133349866 133349866 C T SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known missense c.4322 p.S1441N 1.000 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 tier1 - - 32 0 0.00 12 15 55.56 GOLGA6A 0 genome.wustl.edu 37 15 74363576 74363576 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 74363576 74363576 C A SNP GOLGA6A ENST00000290438 human ensembl 74_37 -1 known missense c.1843 p.G615C 0.563 NULL NULL - no_errors GOLGA6A HGNC ENSG00000159289 tier1 - - 29 0 0.00 20 16 44.44 GOLGA6C 0 genome.wustl.edu 37 15 75558448 75558448 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 75558448 75558448 G A SNP GOLGA6C ENST00000300576 human ensembl 74_37 +1 known missense c.850 p.E284K 0.999 NULL NULL - no_errors GOLGA6C HGNC ENSG00000167195 tier1 - - 41 0 0.00 81 17 17.35 GOLGA6C 0 genome.wustl.edu 37 15 75562260 75562260 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 75562260 75562260 C T SNP GOLGA6C ENST00000300576 human ensembl 74_37 +1 known missense c.1888 p.P630S 0.994 NULL NULL - no_errors GOLGA6C HGNC ENSG00000167195 tier1 - - 27 0 0.00 11 6 33.33 GOLGA6L1 0 genome.wustl.edu 37 15 22742753 22742753 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 22742753 22742753 C T SNP GOLGA6L1 ENST00000316397 human ensembl 74_37 +1 known missense c.1138 p.R380W 0.069 prints_Tropomyosin superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors GOLGA6L1 HGNC ENSG00000197414 tier1 - - 532 0 0.00 371 96 20.56 GOLGA6L3 0 genome.wustl.edu 37 15 83014112 83014112 + Silent SNP A A T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 83014112 83014112 A T SNP GOLGA6L3 ENST00000557886 human ensembl 74_37 -1 putative silent c.471 p.S157 0.343 NULL NULL - no_errors RP13-996F3.4 Clone_based_vega_gene ENSG00000259243 tier1 - - 55 0 0.00 63 12 15.79 GOLGA8B 0 genome.wustl.edu 37 15 34820022 34820022 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 34820022 34820022 C T SNP GOLGA8B ENST00000438958 human ensembl 74_37 -1 known silent c.1713 p.A571 1.000 NULL NULL - no_errors GOLGA8B HGNC ENSG00000215252 tier1 - - 205 0 0.00 131 35 21.08 GOLIM4 0 genome.wustl.edu 37 3 167747677 167747677 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 167747677 167747677 G T SNP GOLIM4 ENST00000470487 human ensembl 74_37 -1 known missense c.1324 p.H442N 0.012 NULL NULL - no_errors GOLIM4 HGNC ENSG00000173905 64 0 0.00 61 4 6.15 GON4L 0 genome.wustl.edu 37 1 155823541 155823541 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 155823541 155823541 C T SNP GON4L ENST00000368331 human ensembl 74_37 -1 known missense c.31 p.V11M 0.001 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 tier1 - - 92 0 0.00 85 34 28.57 GOT1L1 0 genome.wustl.edu 37 8 37791834 37791834 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 37791834 37791834 T - DEL GOT1L1 ENST00000307599 human ensembl 74_37 -1 known frame_shift_del c.1243 p.T415fs 0.000 NULL pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,prints_Asp_trans - no_errors GOT1L1 HGNC ENSG00000169154 tier1 79 0 0.00 87 24 21.62 GPALPP1 0 genome.wustl.edu 37 13 45602078 45602078 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 45602078 45602078 A - DEL GPALPP1 ENST00000361121 human ensembl 74_37 +1 known frame_shift_del c.963 p.K323fs 1.000 pfam_DUF3752 pfam_DUF3752 - no_errors GPALPP1 HGNC ENSG00000133114 tier1 70 0 0.00 118 12 9.23 GPATCH4 0 genome.wustl.edu 37 1 156571203 156571203 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 156571203 156571203 T C SNP GPATCH4 ENST00000438976 human ensembl 74_37 -1 known missense c.29 p.D10G 0.007 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH4 HGNC ENSG00000160818 tier1 - - 38 0 0.00 34 19 35.85 GPIHBP1 0 genome.wustl.edu 37 8 144297286 144297286 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 144297286 144297286 A G SNP GPIHBP1 ENST00000330824 human ensembl 74_37 +1 known missense c.448 p.T150A 0.000 NULL pfam_LY6_UPAR - no_errors GPIHBP1 HGNC ENSG00000182851 tier1 - - 32 0 0.00 17 12 41.38 GPNMB 0 genome.wustl.edu 37 7 23313743 23313743 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 23313743 23313743 G T SNP GPNMB ENST00000381990 human ensembl 74_37 +1 known missense c.1619 p.G540V 0.348 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors GPNMB HGNC ENSG00000136235 tier1 - - 58 0 0.00 45 4 8.16 GPR101 0 genome.wustl.edu 37 X 136113358 136113358 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 136113358 136113358 G A SNP GPR101 ENST00000298110 human ensembl 74_37 -1 known missense c.476 p.A159V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR101 HGNC ENSG00000165370 tier1 - - 39 0 0.00 6 25 80.65 GPR114 0 genome.wustl.edu 37 16 57600566 57600566 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 57600566 57600566 G - DEL GPR114 ENST00000340339 human ensembl 74_37 +1 known frame_shift_del c.602 p.G203fs 0.995 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR114 HGNC ENSG00000159618 tier1 32 0 0.00 14 5 26.32 GPR115 0 genome.wustl.edu 37 6 47678531 47678531 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 47678531 47678531 T C SNP GPR115 ENST00000371220 human ensembl 74_37 +1 known missense c.380 p.F127S 0.471 prints_GPCR_2_Ig-hepta_rcpt pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR115 HGNC ENSG00000153294 tier1 - - 59 0 0.00 48 23 31.94 GPR115 0 genome.wustl.edu 37 6 47678561 47678561 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 47678561 47678561 A - DEL GPR115 ENST00000371220 human ensembl 74_37 +1 known frame_shift_del c.410 p.K139fs 0.923 prints_GPCR_2_Ig-hepta_rcpt pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR115 HGNC ENSG00000153294 tier1 72 0 0.00 38 32 45.71 GPR116 0 genome.wustl.edu 37 6 46851912 46851912 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 46851912 46851912 C T SNP GPR116 ENST00000265417 human ensembl 74_37 -1 known missense c.425 p.R142H 0.000 prints_GPCR_2_Ig-hepta_rcpt pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like - no_errors GPR116 HGNC ENSG00000069122 tier1 - - 45 0 0.00 25 11 30.56 GPR123 0 genome.wustl.edu 37 10 134902466 134902466 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 134902466 134902466 G 0 DEL GPR123 ENST00000607359 human ensembl 74_37 +1 putative frame_shift_del c.1685 p.G564fs 0.000 NULL pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like - no_errors GPR123 HGNC ENSG00000197177 24 0 0.00 21 10 32.26 GPR124 0 genome.wustl.edu 37 8 37692814 37692814 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 37692814 37692814 C T SNP GPR124 ENST00000412232 human ensembl 74_37 +1 known silent c.1731 p.G577 0.828 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR124 HGNC ENSG00000020181 tier1 - - 74 0 0.00 34 18 34.62 GPR124 0 genome.wustl.edu 37 8 37696506 37696506 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 37696506 37696506 C T SNP GPR124 ENST00000412232 human ensembl 74_37 +1 known silent c.2292 p.G764 0.025 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR124 HGNC ENSG00000020181 tier1 rs147055217 - 50 0 0.00 34 11 24.44 GPR144 0 genome.wustl.edu 37 9 127214852 127214852 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 127214852 127214852 G A SNP GPR144 ENST00000334810 human ensembl 74_37 +1 known missense c.188 p.R63Q 0.027 superfamily_C-type_lectin_fold pfam_GPCR_2_secretin-like,pfam_Pentaxin,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_C-type_lectin_fold,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_Pentaxin,prints_GPCR_2_secretin-like - no_errors GPR144 HGNC ENSG00000180264 tier1 - - 104 0 0.00 58 24 29.27 GPR144 0 genome.wustl.edu 37 9 127220451 127220451 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 127220451 127220451 C A SNP GPR144 ENST00000334810 human ensembl 74_37 +1 known missense c.1621 p.L541I 0.097 NULL pfam_GPCR_2_secretin-like,pfam_Pentaxin,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_C-type_lectin_fold,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_Pentaxin,prints_GPCR_2_secretin-like - no_errors GPR144 HGNC ENSG00000180264 tier1 - - 51 0 0.00 23 19 45.24 GPR158 0 genome.wustl.edu 37 10 25889407 25889407 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 25889407 25889407 T - DEL GPR158 ENST00000490549 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors GPR158 HGNC ENSG00000151025 tier1 9 0 0.00 4 3 42.86 GPR174 0 genome.wustl.edu 37 X 78427238 78427238 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 78427238 78427238 C T SNP GPR174 ENST00000276077 human ensembl 74_37 +1 known missense c.734 p.P245L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR174 HGNC ENSG00000147138 tier1 - - 15 0 0.00 3 14 82.35 GPR18 0 genome.wustl.edu 37 13 99907471 99907471 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 99907471 99907471 G A SNP GPR18 ENST00000340807 human ensembl 74_37 -1 known missense c.656 p.T219M 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR18 HGNC ENSG00000125245 tier1 - - 60 0 0.00 38 19 33.33 GPR183 0 genome.wustl.edu 37 13 99947438 99947438 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 99947438 99947438 C A SNP GPR183 ENST00000376414 human ensembl 74_37 -1 known missense c.962 p.R321M 1.000 pfam_7TM_GPCR_olfarory/Srsx pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR183 HGNC ENSG00000169508 tier1 - - 84 0 0.00 84 22 20.75 GPR20 0 genome.wustl.edu 37 8 142367058 142367058 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 142367058 142367058 G A SNP GPR20 ENST00000377741 human ensembl 74_37 -1 known silent c.966 p.S322 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR20 HGNC ENSG00000204882 tier1 - - 89 0 0.00 79 30 27.52 GPR20 0 genome.wustl.edu 37 8 142367352 142367352 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 142367352 142367352 C T SNP GPR20 ENST00000377741 human ensembl 74_37 -1 known silent c.672 p.S224 0.005 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR20 HGNC ENSG00000204882 tier1 - - 47 0 0.00 27 16 37.21 GPR20 0 genome.wustl.edu 37 8 142367375 142367375 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 142367375 142367375 C T SNP GPR20 ENST00000377741 human ensembl 74_37 -1 known missense c.649 p.G217S 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR20 HGNC ENSG00000204882 tier1 - - 44 0 0.00 28 14 33.33 GPR37 0 genome.wustl.edu 37 7 124387326 124387326 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 124387326 124387326 G A SNP GPR37 ENST00000303921 human ensembl 74_37 -1 known silent c.1095 p.N365 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37 HGNC ENSG00000170775 tier1 - - 118 0 0.00 64 32 32.99 GPR68 0 genome.wustl.edu 37 14 91700596 91700596 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 91700596 91700596 C T SNP GPR68 ENST00000238699 human ensembl 74_37 -1 known missense c.829 p.A277T 0.054 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_OGR1_rcpt,prints_GPCR_Rhodpsn,prints_Psych_rcpt - no_errors GPR68 HGNC ENSG00000119714 tier1 - - 44 0 0.00 29 25 46.30 GPR83 0 genome.wustl.edu 37 11 94134356 94134356 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 94134356 94134356 G T SNP GPR83 ENST00000243673 human ensembl 74_37 -1 known missense c.58 p.H20N 0.003 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GPR83 HGNC ENSG00000123901 tier1 - - 18 0 0.00 13 11 45.83 GPR84 0 genome.wustl.edu 37 12 54756738 54756738 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 54756738 54756738 G T SNP GPR84 ENST00000267015 human ensembl 74_37 -1 known missense c.898 p.P300T 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR84 HGNC ENSG00000139572 tier1 - - 85 0 0.00 67 4 5.63 GPR84 0 genome.wustl.edu 37 12 54757554 54757554 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 54757554 54757554 C - DEL GPR84 ENST00000267015 human ensembl 74_37 -1 known frame_shift_del c.82 p.V28fs 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR84 HGNC ENSG00000139572 tier1 60 0 0.00 29 16 35.56 GPR87 0 genome.wustl.edu 37 3 151012592 151012593 + Frame_Shift_Ins INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 151012592 151012593 - A INS GPR87 ENST00000260843 human ensembl 74_37 -1 known frame_shift_ins c.442_441 p.G147fs 1.000:0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y14_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,prints_P2Y14_rcpt - no_errors GPR87 HGNC ENSG00000138271 tier1 45 0 0.00 22 7 24.14 GPR89A 0 genome.wustl.edu 37 1 145811901 145811901 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 145811901 145811901 C T SNP GPR89A ENST00000313835 human ensembl 74_37 -1 known missense c.308 p.R103Q 1.000 NULL pfam_ABA_GPCR_dom,pfam_Golgi_pH-regulator_cons_dom - no_errors GPR89A HGNC ENSG00000117262 tier1 - - 35 0 0.00 37 18 32.73 GPR98 0 genome.wustl.edu 37 5 90124781 90124781 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 90124781 90124781 T - DEL GPR98 ENST00000405460 human ensembl 74_37 +1 known frame_shift_del c.16389 p.F5465fs 0.351 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 tier1 28 0 0.00 13 10 43.48 GPRC5B 0 genome.wustl.edu 37 16 19884026 19884026 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 19884026 19884026 G T SNP GPRC5B ENST00000537135 human ensembl 74_37 -1 known missense c.220 p.L74M 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5B HGNC ENSG00000167191 tier1 - - 60 0 0.00 21 22 51.16 GPRC6A 0 genome.wustl.edu 37 6 117113925 117113925 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 117113925 117113925 G T SNP GPRC6A ENST00000310357 human ensembl 74_37 -1 known missense c.2161 p.L721I 0.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2 - no_errors GPRC6A HGNC ENSG00000173612 tier1 - - 46 0 0.00 24 12 33.33 GPX5 0 genome.wustl.edu 37 6 28502011 28502011 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 28502011 28502011 A - DEL GPX5 ENST00000442674 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GPX5 HGNC ENSG00000224586 tier1 13 0 0.00 4 5 55.56 GRB14 0 genome.wustl.edu 37 2 165365288 165365288 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 165365288 165365288 T - DEL GRB14 ENST00000263915 human ensembl 74_37 -1 known frame_shift_del c.891 p.K297fs 0.015 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB14 HGNC ENSG00000115290 tier1 41 0 0.00 28 16 36.36 GREB1 0 genome.wustl.edu 37 2 11758984 11758984 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 11758984 11758984 G A SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known missense c.3983 p.R1328Q 0.957 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 29 0 0.00 17 10 37.04 GREB1L 0 genome.wustl.edu 37 18 19034430 19034430 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 19034430 19034430 G T SNP GREB1L ENST00000424526 human ensembl 74_37 +1 known silent c.2088 p.L696 1.000 NULL superfamily_P-loop_NTPase - no_errors GREB1L HGNC ENSG00000141449 tier1 - - 54 0 0.00 43 5 10.42 GRIA4 0 genome.wustl.edu 37 11 105850924 105850924 + RNA SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 105850924 105850924 A G SNP GRIA4 ENST00000533094 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors GRIA4 HGNC ENSG00000152578 tier1 - - 31 0 0.00 25 16 39.02 GRID1 0 genome.wustl.edu 37 10 87361805 87361805 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 87361805 87361805 C T SNP GRID1 ENST00000552278 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GRID1 HGNC ENSG00000182771 tier1 - - 49 0 0.00 40 24 37.50 GRID2 0 genome.wustl.edu 37 4 93225753 93225754 + RNA DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 93225753 93225754 AA - DEL GRID2 ENST00000505687 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors GRID2 HGNC ENSG00000152208 tier1 43 0 0.00 18 21 53.85 GRID2IP 0 genome.wustl.edu 37 7 6550665 6550665 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 6550665 6550665 G T SNP GRID2IP ENST00000457091 human ensembl 74_37 -1 putative missense c.1429 p.P477T 0.193 NULL pfam_FH2_Formin,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_FH2_Formin,pfscan_PDZ - no_errors GRID2IP HGNC ENSG00000215045 tier1 - - 77 0 0.00 41 5 10.87 GRIK2 0 genome.wustl.edu 37 6 102503432 102503432 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 102503432 102503432 A - DEL GRIK2 ENST00000421544 human ensembl 74_37 +1 known frame_shift_del c.2539 p.N849fs 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 tier1 20 0 0.00 5 12 70.59 GRIK3 0 genome.wustl.edu 37 1 37315825 37315825 + RNA DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 37315825 37315825 G - DEL GRIK3 ENST00000479620 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GRIK3 HGNC ENSG00000163873 tier1 20 0 0.00 9 5 35.71 GRIK3 0 genome.wustl.edu 37 1 37316015 37316015 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 37316015 37316015 C A SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known missense c.1223 p.W408L 1.000 superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 tier1 - - 76 0 0.00 29 20 40.00 GRIK3 0 genome.wustl.edu 37 1 37319265 37319265 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 37319265 37319265 G A SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known missense c.1163 p.T388M 0.989 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 tier1 rs142974275 - 62 0 0.00 29 19 39.58 GRIK3 0 genome.wustl.edu 37 1 37324816 37324816 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 37324816 37324816 C T SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known missense c.997 p.V333M 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 31 0 0.00 23 2 8.00 GRIN2A 0 genome.wustl.edu 37 16 9857619 9857619 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 9857619 9857619 G A SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known missense c.3782 p.A1261V 0.031 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 tier1 - - 110 0 0.00 59 28 32.18 GRIN2B 0 genome.wustl.edu 37 12 14019063 14019063 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 14019063 14019063 C T SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known missense c.80 p.R27H 0.256 NULL pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 tier1 rs200727145 - 15 0 0.00 3 13 81.25 GRK5 0 genome.wustl.edu 37 10 121189930 121189930 + Nonsense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 121189930 121189930 G T SNP GRK5 ENST00000392870 human ensembl 74_37 +1 known nonsense c.577 p.G193* 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK5 HGNC ENSG00000198873 96 0 0.00 69 4 5.48 GRM1 0 genome.wustl.edu 37 6 146351349 146351349 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 146351349 146351349 G A SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known silent c.696 p.T232 0.019 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 tier1 - - 28 0 0.00 9 16 64.00 GRM4 0 genome.wustl.edu 37 6 34003759 34003759 + Nonsense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 34003759 34003759 G A SNP GRM4 ENST00000374181 human ensembl 74_37 -1 known nonsense c.2128 p.Q710* 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_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B - no_errors GRM4 HGNC ENSG00000124493 tier1 - - 35 0 0.00 27 21 43.75 GRN 0 genome.wustl.edu 37 17 42428095 42428095 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 42428095 42428095 G A SNP GRN ENST00000053867 human ensembl 74_37 +1 known missense c.635 p.R212Q 0.000 smart_Granulin pfam_Granulin,smart_Granulin - no_errors GRN HGNC ENSG00000030582 tier1 rs63750787 - 56 0 0.00 53 6 10.17 GTF2F2 0 genome.wustl.edu 37 13 45781549 45781550 + RNA DEL TC TC - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 45781549 45781550 TC - DEL GTF2F2 ENST00000494087 human ensembl 74_37 +1 known rna NULL NULL 0.825:0.930 - - - no_errors GTF2F2 HGNC ENSG00000188342 tier1 62 0 0.00 64 21 24.71 GTF2IRD1 0 genome.wustl.edu 37 7 73961439 73961439 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 73961439 73961439 C A SNP GTF2IRD1 ENST00000265755 human ensembl 74_37 +1 known missense c.1739 p.A580D 1.000 pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2IRD1 HGNC ENSG00000006704 tier1 - - 65 0 0.00 40 21 34.43 GTF3C2 0 genome.wustl.edu 37 2 27551017 27551017 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 27551017 27551017 G T SNP GTF3C2 ENST00000264720 human ensembl 74_37 -1 known missense c.2296 p.P766T 0.313 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GTF3C2 HGNC ENSG00000115207 tier1 - - 44 0 0.00 39 4 9.30 GTPBP2 0 genome.wustl.edu 37 6 43588291 43588292 + RNA DEL TA TA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 43588291 43588292 TA - DEL GTPBP2 ENST00000476510 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors GTPBP2 HGNC ENSG00000172432 tier1 11 0 0.00 4 7 63.64 GUCY1A3 0 genome.wustl.edu 37 4 156632032 156632032 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 156632032 156632032 T C SNP GUCY1A3 ENST00000296518 human ensembl 74_37 +1 known missense c.715 p.C239R 0.991 superfamily_NO_sig/Golgi_transp_ligand-bd pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A3 HGNC ENSG00000164116 tier1 - - 31 0 0.00 17 10 37.04 GUCY2C 0 genome.wustl.edu 37 12 14832637 14832637 + Nonsense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 14832637 14832637 G A SNP GUCY2C ENST00000261170 human ensembl 74_37 -1 known nonsense c.784 p.R262* 0.006 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 tier1 - - 45 0 0.00 59 20 25.32 GUSBP2 0 genome.wustl.edu 37 6 26856819 26856819 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 26856819 26856819 G A SNP GUSBP2 ENST00000463434 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GUSBP2 HGNC ENSG00000241549 tier1 - - 117 0 0.00 64 39 37.86 GXYLT1 0 genome.wustl.edu 37 12 42499672 42499672 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 42499672 42499672 T C SNP GXYLT1 ENST00000398675 human ensembl 74_37 -1 known missense c.812 p.N271S 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GXYLT1 HGNC ENSG00000151233 tier1 - - 29 0 0.00 19 9 32.14 GZF1 0 genome.wustl.edu 37 20 23347639 23347639 + Splice_Site SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 23347639 23347639 G T SNP GZF1 ENST00000338121 human ensembl 74_37 +1 known splice_site c.1365-1 e2-1 1.000 - - - no_errors GZF1 HGNC ENSG00000125812 tier1 - - 31 0 0.00 26 4 13.33 GZMK 0 genome.wustl.edu 37 5 54326289 54326289 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 54326289 54326289 G A SNP GZMK ENST00000231009 human ensembl 74_37 +1 known silent c.240 p.V80 1.000 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors GZMK HGNC ENSG00000113088 tier1 - - 109 0 0.00 75 58 43.61 H1FNT 0 genome.wustl.edu 37 12 48723224 48723224 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 48723224 48723224 G A SNP H1FNT ENST00000335017 human ensembl 74_37 +1 known silent c.150 p.S50 0.000 NULL NULL - no_errors H1FNT HGNC ENSG00000187166 tier1 - - 30 0 0.00 11 12 52.17 H1FX-AS1 0 genome.wustl.edu 37 3 129036981 129036981 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 129036981 129036981 G A SNP H1FX-AS1 ENST00000383461 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors H1FX-AS1 HGNC ENSG00000206417 tier1 - - 34 0 0.00 19 5 20.83 HAP1 0 genome.wustl.edu 37 17 39890494 39890494 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 39890494 39890494 C T SNP HAP1 ENST00000310778 human ensembl 74_37 -1 known silent c.393 p.T131 0.000 pfam_HAP1_N pfam_HAP1_N - no_errors HAP1 HGNC ENSG00000173805 13 0 0.00 4 3 42.86 HAPLN4 0 genome.wustl.edu 37 19 19371676 19371676 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 19371676 19371676 C T SNP HAPLN4 ENST00000291481 human ensembl 74_37 -1 known missense c.430 p.E144K 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN4 HGNC ENSG00000187664 tier1 - - 60 0 0.00 25 21 45.65 HAUS6 0 genome.wustl.edu 37 9 19058188 19058188 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 19058188 19058188 G A SNP HAUS6 ENST00000380502 human ensembl 74_37 -1 known silent c.2577 p.P859 0.224 NULL NULL - no_errors HAUS6 HGNC ENSG00000147874 tier1 rs147153475 - 98 0 0.00 69 32 31.68 HAX1 0 genome.wustl.edu 37 1 154246356 154246357 + Frame_Shift_Ins INS - - G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 154246356 154246357 - G INS HAX1 ENST00000483970 human ensembl 74_37 +1 known frame_shift_ins c.447_448 p.V151fs 0.892:0.777 pirsf_HS1--assoc_X-1 pirsf_HS1--assoc_X-1 - no_errors HAX1 HGNC ENSG00000143575 tier1 34 0 0.00 38 8 17.39 HCN1 0 genome.wustl.edu 37 5 45262495 45262495 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 45262495 45262495 G A SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known missense c.2201 p.P734L 0.004 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 tier1 - - 52 0 0.00 32 60 65.22 HCN1 0 genome.wustl.edu 37 5 45267271 45267271 + Missense_Mutation SNP T T A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 45267271 45267271 T A SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known missense c.1703 p.N568I 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 tier1 - - 90 0 0.00 118 34 22.37 HDAC11 0 genome.wustl.edu 37 3 13538267 13538268 + Frame_Shift_Ins INS - - C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 13538267 13538268 - C INS HDAC11 ENST00000295757 human ensembl 74_37 +1 known frame_shift_ins c.284_285 p.V98fs 1.000:1.000 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,prints_His_deacetylse - no_errors HDAC11 HGNC ENSG00000163517 tier1 63 0 0.00 47 25 34.72 HDAC3 0 genome.wustl.edu 37 5 141005807 141005807 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 141005807 141005807 C T SNP HDAC3 ENST00000305264 human ensembl 74_37 -1 known missense c.874 p.V292M 1.000 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC3 HGNC ENSG00000171720 tier1 - - 113 0 0.00 51 56 52.34 HDAC4 0 genome.wustl.edu 37 2 240016733 240016733 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 240016733 240016733 G T SNP HDAC4 ENST00000345617 human ensembl 74_37 -1 known missense c.2238 p.F746L 0.191 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 tier1 - - 83 0 0.00 67 7 9.46 HDAC4 0 genome.wustl.edu 37 2 240036792 240036792 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 240036792 240036792 G A SNP HDAC4 ENST00000345617 human ensembl 74_37 -1 known missense c.1733 p.P578L 0.502 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 tier1 rs201187772 - 97 0 0.00 40 23 36.51 HDAC6 0 genome.wustl.edu 37 X 48681613 48681613 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 48681613 48681613 G T SNP HDAC6 ENST00000444343 human ensembl 74_37 +1 known missense c.2846 p.G949V 0.004 NULL pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 79 0 0.00 67 4 5.63 HDAC9 0 genome.wustl.edu 37 7 18869172 18869172 + Splice_Site SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 18869172 18869172 G T SNP HDAC9 ENST00000441542 human ensembl 74_37 +1 known splice_site c.2466+1 e18+1 1.000 - - - no_errors HDAC9 HGNC ENSG00000048052 27 0 0.00 22 2 8.33 HDGF 0 genome.wustl.edu 37 1 156713319 156713319 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 156713319 156713319 G A SNP HDGF ENST00000477306 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors HDGF HGNC ENSG00000143321 tier1 - - 46 0 0.00 48 22 31.43 HDLBP 0 genome.wustl.edu 37 2 242179021 242179021 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 242179021 242179021 T C SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known missense c.2606 p.D869G 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 tier1 - - 31 0 0.00 18 13 41.94 HEATR5A 0 genome.wustl.edu 37 14 31852855 31852855 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 31852855 31852855 G A SNP HEATR5A ENST00000389961 human ensembl 74_37 -1 known missense c.1450 p.R484C 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5A HGNC ENSG00000129493 tier1 - - 41 0 0.00 24 18 42.86 HEATR5B 0 genome.wustl.edu 37 2 37208635 37208635 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 37208635 37208635 A - DEL HEATR5B ENST00000233099 human ensembl 74_37 -1 known frame_shift_del c.6214 p.*2072fs 1.000 NULL superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 tier1 28 0 0.00 19 13 40.62 HECW2 0 genome.wustl.edu 37 2 197184627 197184627 + Silent SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 197184627 197184627 A G SNP HECW2 ENST00000260983 human ensembl 74_37 -1 known silent c.987 p.D329 1.000 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW2 HGNC ENSG00000138411 18 0 0.00 12 9 42.86 HEG1 0 genome.wustl.edu 37 3 124733606 124733606 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 124733606 124733606 G A SNP HEG1 ENST00000477536 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors HEG1 HGNC ENSG00000173706 tier1 - - 33 0 0.00 19 18 47.37 HELLS 0 genome.wustl.edu 37 10 96352051 96352051 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 96352051 96352051 A - DEL HELLS ENST00000371332 human ensembl 74_37 +1 known frame_shift_del c.1971 p.R660fs 0.958 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELLS HGNC ENSG00000119969 tier1 32 0 0.00 40 17 29.82 HEPH 0 genome.wustl.edu 37 X 65393488 65393489 + Frame_Shift_Ins INS - - G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 65393488 65393489 - G INS HEPH ENST00000519389 human ensembl 74_37 +1 known frame_shift_ins c.632_633 p.S214fs 0.997:0.835 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 tier1 34 0 0.00 13 13 50.00 HEPHL1 0 genome.wustl.edu 37 11 93844770 93844770 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 93844770 93844770 C T SNP HEPHL1 ENST00000315765 human ensembl 74_37 +1 known silent c.3276 p.N1092 0.004 NULL pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPHL1 HGNC ENSG00000181333 tier1 - - 19 0 0.00 10 13 56.52 HERC2 0 genome.wustl.edu 37 15 28447658 28447658 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 28447658 28447658 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.7315 p.A2439T 0.844 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 tier1 - - 17 0 0.00 14 9 39.13 HERC2P2 0 genome.wustl.edu 37 15 23311345 23311345 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 23311345 23311345 G A SNP HERC2P2 ENST00000559248 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P2 HGNC ENSG00000140181 tier1 - - 27 0 0.00 6 16 72.73 HERC2P8 0 genome.wustl.edu 37 16 33106788 33106788 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 33106788 33106788 G A SNP HERC2P8 ENST00000564795 human ensembl 74_37 -1 known rna NULL NULL 0.759 - - - no_errors HERC2P8 HGNC ENSG00000261599 tier1 - - 18 0 0.00 14 6 30.00 HERC4 0 genome.wustl.edu 37 10 69716603 69716604 + RNA DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 69716603 69716604 AA - DEL HERC4 ENST00000480158 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors HERC4 HGNC ENSG00000148634 tier1 29 0 0.00 7 10 58.82 HERPUD2 0 genome.wustl.edu 37 7 35675005 35675005 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 35675005 35675005 C T SNP HERPUD2 ENST00000311350 human ensembl 74_37 -1 known silent c.681 p.Q227 0.998 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors HERPUD2 HGNC ENSG00000122557 tier1 - - 73 0 0.00 43 41 48.81 HFE 0 genome.wustl.edu 37 6 26093113 26093113 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 26093113 26093113 C - DEL HFE ENST00000357618 human ensembl 74_37 +1 known frame_shift_del c.817 p.P274fs 0.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HFE HGNC ENSG00000010704 tier1 98 0 0.00 21 41 66.13 HFE 0 genome.wustl.edu 37 6 26093117 26093117 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 26093117 26093117 C T SNP HFE ENST00000357618 human ensembl 74_37 +1 known missense c.821 p.P274L 0.018 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HFE HGNC ENSG00000010704 99 0 0.00 56 5 8.20 HGFAC 0 genome.wustl.edu 37 4 3443798 3443800 + In_Frame_Del DEL CTG CTG - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 3443798 3443800 CTG - DEL HGFAC ENST00000382774 human ensembl 74_37 +1 known in_frame_del c.70_72 p.L27in_frame_del 0.997:0.997:0.998 pirsf_Coagulation_fac_XIIa/HGFA pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 tier1 48 0 0.00 25 3 10.71 HGFAC 0 genome.wustl.edu 37 4 3444594 3444594 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 3444594 3444594 C 0 DEL HGFAC ENST00000382774 human ensembl 74_37 +1 known frame_shift_del c.253 p.P86fs 0.000 pirsf_Coagulation_fac_XIIa/HGFA pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 24 0 0.00 11 5 31.25 HHIP 0 genome.wustl.edu 37 4 145658978 145658978 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 145658978 145658978 A - DEL HHIP ENST00000296575 human ensembl 74_37 +1 known frame_shift_del c.1972 p.G660fs 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HHIP HGNC ENSG00000164161 tier1 68 0 0.00 36 26 41.94 HIF1A 0 genome.wustl.edu 37 14 62162351 62162351 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 62162351 62162351 C T SNP HIF1A ENST00000553999 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors HIF1A HGNC ENSG00000100644 tier1 - - 17 0 0.00 4 5 55.56 HIF1A 0 genome.wustl.edu 37 14 62207881 62207881 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 62207881 62207881 G A SNP HIF1A ENST00000539097 human ensembl 74_37 +1 known missense c.2140 p.V714M 0.810 NULL pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_HIF-1_alpha,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors HIF1A HGNC ENSG00000100644 tier1 - - 25 0 0.00 11 16 59.26 HILPDA 0 genome.wustl.edu 37 7 128097964 128097964 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 128097964 128097964 A - DEL HILPDA ENST00000466473 human ensembl 74_37 +1 known rna NULL NULL 0.015 - - - no_errors HILPDA HGNC ENSG00000135245 tier1 25 0 0.00 8 9 52.94 HILS1 0 genome.wustl.edu 37 17 48258285 48258288 + RNA DEL AAAA AAAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 48258285 48258288 AAAA - DEL HILS1 ENST00000504307 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.000:0.000 - - - no_errors HILS1 HGNC ENSG00000188662 tier1 45 0 0.00 21 13 38.24 HIPK1 0 genome.wustl.edu 37 1 114499264 114499264 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 114499264 114499264 G T SNP HIPK1 ENST00000369558 human ensembl 74_37 +1 known missense c.1423 p.D475Y 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK1 HGNC ENSG00000163349 tier1 - - 46 0 0.00 48 4 7.69 HIPK4 0 genome.wustl.edu 37 19 40895566 40895566 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 40895566 40895566 C T SNP HIPK4 ENST00000291823 human ensembl 74_37 -1 known missense c.244 p.A82T 0.989 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK4 HGNC ENSG00000160396 tier1 - - 47 0 0.00 37 20 35.09 HIST1H2AD 0 genome.wustl.edu 37 6 26199227 26199228 + Frame_Shift_Ins INS - - G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 26199227 26199228 - G INS HIST1H2AD ENST00000341023 human ensembl 74_37 -1 known frame_shift_ins c.245_244 p.R82fs 1.000:1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AD HGNC ENSG00000196866 tier1 124 0 0.00 43 93 68.38 HIST1H2BN 0 genome.wustl.edu 37 6 27806814 27806814 + Silent SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 27806814 27806814 C A SNP HIST1H2BN ENST00000396980 human ensembl 74_37 +1 known silent c.375 p.S125 1.000 superfamily_Histone-fold pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BN HGNC ENSG00000233822 90 0 0.00 65 4 5.80 HIVEP3 0 genome.wustl.edu 37 1 42046841 42046841 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 42046841 42046841 G A SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known missense c.3628 p.P1210S 0.996 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 tier1 - - 55 0 0.00 46 4 8.00 HIVEP3 0 genome.wustl.edu 37 1 42048989 42048989 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 42048989 42048989 G A SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known missense c.1480 p.R494C 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 tier1 - - 60 0 0.00 81 10 10.99 HIVEP3 0 genome.wustl.edu 37 1 42049670 42049670 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 42049670 42049670 G A SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known missense c.799 p.R267W 0.992 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 tier1 - - 30 0 0.00 14 10 41.67 HLA-DMB 0 genome.wustl.edu 37 6 32906673 32906673 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 32906673 32906673 T C SNP HLA-DMB ENST00000418107 human ensembl 74_37 -1 known missense c.125 p.Y42C 0.273 pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N pfam_Ig_C1-set,pfam_MHC_II_b_N,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DMB HGNC ENSG00000242574 tier1 - - 77 0 0.00 15 39 72.22 HLA-F 0 genome.wustl.edu 37 6 29694802 29694803 + Frame_Shift_Ins INS - - T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 29694802 29694803 - T INS HLA-F ENST00000259951 human ensembl 74_37 +1 known frame_shift_ins c.1179_1180 p.L395fs 1.000:1.000 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-F HGNC ENSG00000204642 tier1 67 0 0.00 68 7 9.33 HLA-J 0 genome.wustl.edu 37 6 29976018 29976018 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 29976018 29976018 C T SNP HLA-J ENST00000462773 human ensembl 74_37 +1 known rna NULL NULL 0.693 - - - no_errors HLA-J HGNC ENSG00000204622 tier1 - - 65 0 0.00 40 23 36.51 HLTF 0 genome.wustl.edu 37 3 148766718 148766718 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 148766718 148766718 C T SNP HLTF ENST00000310053 human ensembl 74_37 -1 known missense c.1688 p.R563Q 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_HIP116_Rad5p_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HIP116_Rad5p_N,smart_Helicase_ATP-bd,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HLTF HGNC ENSG00000071794 tier1 - - 83 0 0.00 72 4 5.26 HLX 0 genome.wustl.edu 37 1 221054587 221054587 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 221054587 221054587 G T SNP HLX ENST00000366903 human ensembl 74_37 +1 known missense c.644 p.G215V 0.765 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors HLX HGNC ENSG00000136630 tier1 - - 70 0 0.00 85 6 6.52 HMCN1 0 genome.wustl.edu 37 1 185962483 185962483 + RNA SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 185962483 185962483 G T SNP HMCN1 ENST00000485744 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 44 0 0.00 67 4 5.63 HMCN1 0 genome.wustl.edu 37 1 186083133 186083133 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 186083133 186083133 C - DEL HMCN1 ENST00000271588 human ensembl 74_37 +1 known frame_shift_del c.11154 p.Q3720fs 0.991 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 48 0 0.00 32 13 28.89 HMGA1 0 genome.wustl.edu 37 6 34211248 34211250 + In_Frame_Del DEL ACC ACC - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 ACC ACC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 34211248 34211250 ACC - DEL HMGA1 ENST00000311487 human ensembl 74_37 +1 known in_frame_del c.223_225 p.T78in_frame_del 1.000:1.000:1.000 prints_HMGI/HMGY smart_AT_hook_DNA-bd_motif,prints_HMGI/HMGY,prints_AT_hook-like - no_errors HMGA1 HGNC ENSG00000137309 tier1 65 0 0.00 44 32 42.11 HMGB1 0 genome.wustl.edu 37 13 31035515 31035515 + Missense_Mutation SNP T T A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 31035515 31035515 T A SNP HMGB1 ENST00000339872 human ensembl 74_37 -1 known missense c.627 p.E209D 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGB1 HGNC ENSG00000189403 tier1 - - 30 0 0.00 47 11 18.97 HMGB1 0 genome.wustl.edu 37 13 31037600 31037600 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 31037600 31037600 T - DEL HMGB1 ENST00000468384 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors HMGB1 HGNC ENSG00000189403 tier1 44 0 0.00 47 21 30.88 HMGB2 0 genome.wustl.edu 37 4 174254086 174254086 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 174254086 174254086 G A SNP HMGB2 ENST00000296503 human ensembl 74_37 -1 known silent c.357 p.G119 0.942 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGB2 HGNC ENSG00000164104 tier1 - - 53 0 0.00 49 20 28.99 HMGN2P46 0 genome.wustl.edu 37 15 45848231 45848234 + RNA DEL TTTT TTTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTTT TTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 45848231 45848234 TTTT - DEL HMGN2P46 ENST00000313559 human ensembl 74_37 +1 known rna NULL NULL 0.997:0.996:0.997:0.996 - - - no_errors HMGN2P46 HGNC ENSG00000179362 tier1 14 0 0.00 16 12 42.86 HMHA1 0 genome.wustl.edu 37 19 1080107 1080107 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 1080107 1080107 G A SNP HMHA1 ENST00000313093 human ensembl 74_37 +1 known missense c.1693 p.A565T 0.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors HMHA1 HGNC ENSG00000180448 tier1 - - 52 0 0.00 32 19 37.25 HMOX1 0 genome.wustl.edu 37 22 35782901 35782901 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 35782901 35782901 G A SNP HMOX1 ENST00000216117 human ensembl 74_37 +1 known missense c.368 p.R123H 0.000 pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase,prints_Haem_Oase - no_errors HMOX1 HGNC ENSG00000100292 tier1 - - 53 0 0.00 20 10 33.33 HMX2 0 genome.wustl.edu 37 10 124907930 124907930 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 124907930 124907930 G A SNP HMX2 ENST00000339992 human ensembl 74_37 +1 known silent c.36 p.P12 0.963 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HMX2 HGNC ENSG00000188816 tier1 - - 96 0 0.00 33 38 53.52 HNRNPCL1 0 genome.wustl.edu 37 1 12908012 12908012 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 12908012 12908012 G A SNP HNRNPCL1 ENST00000317869 human ensembl 74_37 -1 known missense c.131 p.A44V 1.000 pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors HNRNPCL1 HGNC ENSG00000179172 tier1 - - 309 0 0.00 240 24 9.09 HNRNPKP3 0 genome.wustl.edu 37 11 43283606 43283607 + RNA DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 43283606 43283607 AA - DEL HNRNPKP3 ENST00000511537 human ensembl 74_37 -1 known rna NULL NULL 0.986:0.995 - - - no_errors HNRNPKP3 HGNC ENSG00000251557 tier1 8 0 0.00 3 3 50.00 HNRNPM 0 genome.wustl.edu 37 19 8550769 8550769 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 8550769 8550769 T C SNP HNRNPM ENST00000325495 human ensembl 74_37 +1 known missense c.1457 p.M486T 1.000 NULL pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPM HGNC ENSG00000099783 tier1 - - 28 0 0.00 17 7 29.17 HNRNPUL1 0 genome.wustl.edu 37 19 41808818 41808818 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 41808818 41808818 G - DEL HNRNPUL1 ENST00000392006 human ensembl 74_37 +1 known frame_shift_del c.1936 p.G647fs 0.979 NULL pfam_SPRY_rcpt,pfam_SAP_dom,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPUL1 HGNC ENSG00000105323 tier1 24 0 0.00 10 6 37.50 HOMEZ 0 genome.wustl.edu 37 14 23745310 23745310 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 23745310 23745310 A - DEL HOMEZ ENST00000431326 human ensembl 74_37 -1 known frame_shift_del c.1133 p.L378fs 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOMEZ HGNC ENSG00000215271 tier1 76 0 0.00 74 41 35.65 HOOK3 0 genome.wustl.edu 37 8 42814435 42814435 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 42814435 42814435 G A SNP HOOK3 ENST00000307602 human ensembl 74_37 +1 known missense c.593 p.R198K 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_t-SNARE - no_errors HOOK3 HGNC ENSG00000168172 tier1 - - 21 0 0.00 27 7 20.59 HOXA-AS3 0 genome.wustl.edu 37 7 27193435 27193435 + RNA SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 27193435 27193435 A G SNP HOXA-AS3 ENST00000518947 human ensembl 74_37 +1 known rna NULL NULL 0.036 - - - no_errors HOXA-AS3 HGNC ENSG00000254369 tier1 - - 54 0 0.00 32 28 46.67 HOXA-AS3 0 genome.wustl.edu 37 7 27194267 27194267 + RNA DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 27194267 27194267 G - DEL HOXA-AS3 ENST00000518947 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HOXA-AS3 HGNC ENSG00000254369 tier1 36 0 0.00 30 8 21.05 HOXD8 0 genome.wustl.edu 37 2 176995458 176995458 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 176995458 176995458 C - DEL HOXD8 ENST00000313173 human ensembl 74_37 +1 known frame_shift_del c.364 p.C124fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXD8 HGNC ENSG00000175879 tier1 17 0 0.00 6 3 33.33 HOXD8 0 genome.wustl.edu 37 2 176995458 176995458 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 176995458 176995458 C T SNP HOXD8 ENST00000313173 human ensembl 74_37 +1 known missense c.364 p.P122S 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXD8 HGNC ENSG00000175879 17 0 0.00 4 2 22.22 HP1BP3 0 genome.wustl.edu 37 1 21106855 21106855 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 21106855 21106855 C T SNP HP1BP3 ENST00000312239 human ensembl 74_37 -1 known missense c.79 p.A27T 1.000 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15 - no_errors HP1BP3 HGNC ENSG00000127483 tier1 rs142958960 - 61 0 0.00 45 31 39.74 HPCAL4 0 genome.wustl.edu 37 1 40148347 40148347 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 40148347 40148347 G A SNP HPCAL4 ENST00000372844 human ensembl 74_37 -1 known missense c.437 p.T146M 1.000 pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors HPCAL4 HGNC ENSG00000116983 tier1 - - 45 0 0.00 23 18 43.90 HPCAL4 0 genome.wustl.edu 37 1 40150207 40150207 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 40150207 40150207 G T SNP HPCAL4 ENST00000372844 human ensembl 74_37 -1 known missense c.69 p.S23R 1.000 prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors HPCAL4 HGNC ENSG00000116983 tier1 - - 72 0 0.00 55 6 9.84 HPDL 0 genome.wustl.edu 37 1 45793177 45793177 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 45793177 45793177 C T SNP HPDL ENST00000334815 human ensembl 74_37 +1 known silent c.357 p.A119 0.055 pirsf_4OHPhenylPyrv_dOase pirsf_4OHPhenylPyrv_dOase - no_errors HPDL HGNC ENSG00000186603 20 0 0.00 11 3 21.43 HPS6 0 genome.wustl.edu 37 10 103826768 103826768 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 103826768 103826768 C A SNP HPS6 ENST00000299238 human ensembl 74_37 +1 known missense c.1537 p.L513I 0.292 pirsf_BLOC-2_complex_Hps6_subunit pirsf_BLOC-2_complex_Hps6_subunit - no_errors HPS6 HGNC ENSG00000166189 tier1 - - 56 0 0.00 32 14 30.43 HPX 0 genome.wustl.edu 37 11 6461398 6461398 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 6461398 6461398 G T SNP HPX ENST00000265983 human ensembl 74_37 -1 known silent c.333 p.I111 0.999 pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Hemopexin_chordata pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Hemopexin_chordata - no_errors HPX HGNC ENSG00000110169 tier1 - - 68 0 0.00 44 4 8.33 HRH4 0 genome.wustl.edu 37 18 22057444 22057444 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 22057444 22057444 G A SNP HRH4 ENST00000256906 human ensembl 74_37 +1 known missense c.1091 p.R364H 0.374 prints_Histamine_H4_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H4_rcpt,prints_GPCR_Rhodpsn - no_errors HRH4 HGNC ENSG00000134489 tier1 rs149820026 - 58 0 0.00 37 22 37.29 HRNR 0 genome.wustl.edu 37 1 152187631 152187631 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 152187631 152187631 G A SNP HRNR ENST00000368801 human ensembl 74_37 -1 known silent c.6474 p.R2158 0.003 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 - - 430 0 0.00 413 25 5.68 HRNR 0 genome.wustl.edu 37 1 152189041 152189041 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 152189041 152189041 G A SNP HRNR ENST00000368801 human ensembl 74_37 -1 known silent c.5064 p.R1688 0.003 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 - - 80 0 0.00 60 8 11.76 HRNR 0 genome.wustl.edu 37 1 152192466 152192466 + Nonsense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 152192466 152192466 G A SNP HRNR ENST00000368801 human ensembl 74_37 -1 known nonsense c.1639 p.R547* 0.004 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 rs142288299 - 154 0 0.00 85 48 36.09 HSD17B1 0 genome.wustl.edu 37 17 40706467 40706469 + In_Frame_Del DEL AGA AGA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 40706467 40706469 AGA - DEL HSD17B1 ENST00000585807 human ensembl 74_37 +1 known in_frame_del c.584_586 p.K196in_frame_del 0.189:0.353:0.739 pirsf_17beta_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B1 HGNC ENSG00000108786 tier1 72 0 0.00 40 20 33.33 HSD17B4 0 genome.wustl.edu 37 5 118809676 118809678 + In_Frame_Del DEL AAG AAG - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 118809676 118809678 AAG - DEL HSD17B4 ENST00000256216 human ensembl 74_37 +1 known in_frame_del c.186_188 p.R65in_frame_del 1.000:1.000:1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR pfam_MaoC_dom,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 ENSG00000133835 tier1 83 0 0.00 61 26 29.89 HSD17B4 0 genome.wustl.edu 37 5 118865647 118865647 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 118865647 118865647 C T SNP HSD17B4 ENST00000256216 human ensembl 74_37 +1 known missense c.1826 p.S609F 0.766 NULL pfam_MaoC_dom,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 ENSG00000133835 tier1 - - 39 0 0.00 24 22 47.83 HSD3B1 0 genome.wustl.edu 37 1 120054190 120054190 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 120054190 120054190 G T SNP HSD3B1 ENST00000235547 human ensembl 74_37 +1 known missense c.216 p.K72N 0.132 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA - no_errors HSD3B1 HGNC ENSG00000203857 tier1 - - 102 0 0.00 65 4 5.80 HSPA12A 0 genome.wustl.edu 37 10 118434562 118434562 + Silent SNP A A C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 118434562 118434562 A C SNP HSPA12A ENST00000369209 human ensembl 74_37 -1 known silent c.1758 p.R586 0.748 NULL NULL - no_errors HSPA12A HGNC ENSG00000165868 tier1 - - 40 0 0.00 11 7 38.89 HSPA2 0 genome.wustl.edu 37 14 65009180 65009180 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 65009180 65009180 G A SNP HSPA2 ENST00000247207 human ensembl 74_37 +1 known missense c.1613 p.R538Q 0.987 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA2 HGNC ENSG00000126803 tier1 - - 18 0 0.00 7 11 61.11 HSPBP1 0 genome.wustl.edu 37 19 55785874 55785874 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 55785874 55785874 C T SNP HSPBP1 ENST00000255631 human ensembl 74_37 -1 known missense c.532 p.A178T 0.807 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HSPBP1 HGNC ENSG00000133265 tier1 - - 20 0 0.00 20 4 16.67 HSPG2 0 genome.wustl.edu 37 1 22149323 22149323 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 22149323 22149323 T - DEL HSPG2 ENST00000486901 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HSPG2 HGNC ENSG00000142798 tier1 38 0 0.00 16 11 40.74 HSPG2 0 genome.wustl.edu 37 1 22168102 22168102 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 22168102 22168102 G A SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known silent c.9258 p.H3086 0.003 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 tier1 rs142555110 - 158 0 0.00 77 40 34.19 HSPH1 0 genome.wustl.edu 37 13 31722127 31722127 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 31722127 31722127 G T SNP HSPH1 ENST00000445273 human ensembl 74_37 -1 known silent c.1353 p.P451 0.037 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPH1 HGNC ENSG00000120694 tier1 - - 33 0 0.00 56 8 12.50 HTATIP2 0 genome.wustl.edu 37 11 20388803 20388803 + Silent SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 20388803 20388803 T C SNP HTATIP2 ENST00000419348 human ensembl 74_37 +1 known silent c.381 p.G127 0.995 pfam_Semialdehyde_DH_NAD-bd pfam_Semialdehyde_DH_NAD-bd - no_errors HTATIP2 HGNC ENSG00000109854 tier1 - - 53 0 0.00 48 47 48.96 HTR3D 0 genome.wustl.edu 37 3 183749570 183749570 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 183749570 183749570 G T SNP HTR3D ENST00000428798 human ensembl 74_37 +1 known missense c.41 p.G14V 0.000 NULL pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd - no_errors HTR3D HGNC ENSG00000186090 tier1 - - 38 0 0.00 39 4 9.30 HTRA3 0 genome.wustl.edu 37 4 8293255 8293255 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 8293255 8293255 C T SNP HTRA3 ENST00000307358 human ensembl 74_37 +1 known silent c.867 p.S289 0.147 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,pfam_Kazal_dom,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA3 HGNC ENSG00000170801 tier1 - - 32 0 0.00 11 11 50.00 HTT 0 genome.wustl.edu 37 4 3127292 3127294 + In_Frame_Del DEL AGA AGA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 3127292 3127294 AGA - DEL HTT ENST00000355072 human ensembl 74_37 +1 known in_frame_del c.1338_1340 p.E449in_frame_del 0.996:1.000:1.000 superfamily_ARM-type_fold pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 tier1 75 0 0.00 32 23 41.82 HTT 0 genome.wustl.edu 37 4 3158915 3158915 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 3158915 3158915 G A SNP HTT ENST00000355072 human ensembl 74_37 +1 known missense c.3742 p.A1248T 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 tier1 - - 59 0 0.00 45 16 26.23 HUWE1 0 genome.wustl.edu 37 X 53577971 53577971 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 53577971 53577971 C A SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.9276 p.E3092D 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 tier1 - - 25 0 0.00 6 13 68.42 HUWE1 0 genome.wustl.edu 37 X 53587251 53587251 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 53587251 53587251 C T SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.7634 p.R2545H 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 tier1 - - 38 0 0.00 4 24 85.71 HVCN1 0 genome.wustl.edu 37 12 111099112 111099112 + Missense_Mutation SNP C C G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 111099112 111099112 C G SNP HVCN1 ENST00000242607 human ensembl 74_37 -1 known missense c.163 p.E55Q 0.018 NULL pfam_Ion_trans_dom - no_errors HVCN1 HGNC ENSG00000122986 tier1 - - 148 0 0.00 96 45 31.91 HYAL4 0 genome.wustl.edu 37 7 123509154 123509154 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 123509154 123509154 G A SNP HYAL4 ENST00000223026 human ensembl 74_37 +1 known missense c.827 p.R276H 0.044 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL4 HGNC ENSG00000106302 tier1 - - 35 0 0.00 27 11 28.95 HYDIN 0 genome.wustl.edu 37 16 70889081 70889081 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 70889081 70889081 G A SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative silent c.12393 p.S4131 0.701 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 - - 26 0 0.00 8 13 61.90 HYDIN 0 genome.wustl.edu 37 16 71220808 71220808 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 71220808 71220808 T - DEL HYDIN ENST00000538248 human ensembl 74_37 -1 known frame_shift_del c.72 p.K24fs 0.169 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 25 0 0.00 17 7 29.17 HYDIN 0 genome.wustl.edu 37 16 70934983 70934983 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 70934983 70934983 G 0 DEL HYDIN ENST00000393567 human ensembl 74_37 -1 putative frame_shift_del c.8972 p.P2991fs 0.097 superfamily_PapD-like superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 60 0 0.00 41 8 16.33 HYDIN 0 genome.wustl.edu 37 16 71052314 71052314 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 71052314 71052314 T 0 DEL HYDIN ENST00000448089 human ensembl 74_37 -1 known frame_shift_del c.3218 p.N1073fs 0.002 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 11 0 0.00 3 4 57.14 IARS 0 genome.wustl.edu 37 9 95022503 95022503 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 95022503 95022503 T - DEL IARS ENST00000375643 human ensembl 74_37 -1 known frame_shift_del c.1801 p.M601fs 1.000 pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Ile-tRNA-ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS HGNC ENSG00000196305 tier1 151 0 0.00 106 41 27.89 IBA57-AS1 0 genome.wustl.edu 37 1 228351834 228351834 + Missense_Mutation SNP A A T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 228351834 228351834 A T SNP IBA57-AS1 ENST00000366713 human ensembl 74_37 -1 known missense c.317 p.I106N 0.004 NULL NULL - no_errors IBA57-AS1 HGNC ENSG00000203684 tier1 - - 32 0 0.00 33 11 25.00 ICOSLG 0 genome.wustl.edu 37 21 45649927 45649927 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 45649927 45649927 G A SNP ICOSLG ENST00000400379 human ensembl 74_37 -1 putative missense c.908 p.A303V 0.001 NULL pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors ICOSLG HGNC ENSG00000160223 tier1 - - 18 0 0.00 5 4 44.44 IDH3B 0 genome.wustl.edu 37 20 2639423 2639423 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 2639423 2639423 C T SNP IDH3B ENST00000380843 human ensembl 74_37 -1 known missense c.1132 p.G378S 0.994 tigrfam_Isocitrate_DH_NAD pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD - no_errors IDH3B HGNC ENSG00000101365 tier1 - - 63 0 0.00 48 23 32.39 IDO1 0 genome.wustl.edu 37 8 39785442 39785442 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 39785442 39785442 G A SNP IDO1 ENST00000518237 human ensembl 74_37 +1 known missense c.950 p.R317H 0.776 pfam_Indolamine_dOase pfam_Indolamine_dOase - no_errors IDO1 HGNC ENSG00000131203 tier1 - - 121 0 0.00 117 49 29.52 IDO2 0 genome.wustl.edu 37 8 39871110 39871110 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 39871110 39871110 C T SNP IDO2 ENST00000502986 human ensembl 74_37 +1 known missense c.785 p.A262V 0.000 pfam_Indolamine_dOase pfam_Indolamine_dOase - no_errors IDO2 HGNC ENSG00000188676 tier1 - - 65 0 0.00 55 30 35.29 IDO2 0 genome.wustl.edu 37 8 39871188 39871188 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 39871188 39871188 A G SNP IDO2 ENST00000502986 human ensembl 74_37 +1 known missense c.863 p.H288R 0.993 pfam_Indolamine_dOase pfam_Indolamine_dOase - no_errors IDO2 HGNC ENSG00000188676 tier1 - - 89 0 0.00 108 18 14.29 IFI44 0 genome.wustl.edu 37 1 79129487 79129487 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 79129487 79129487 A - DEL IFI44 ENST00000370747 human ensembl 74_37 +1 known frame_shift_del c.1326 p.K444fs 0.000 NULL pfam_TLDc,superfamily_P-loop_NTPase - no_errors IFI44 HGNC ENSG00000137965 tier1 45 0 0.00 46 21 31.34 IFNB1 0 genome.wustl.edu 37 9 21077745 21077745 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 21077745 21077745 G T SNP IFNB1 ENST00000380232 human ensembl 74_37 -1 known missense c.124 p.L42M 0.996 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNB1 HGNC ENSG00000171855 tier1 - - 40 0 0.00 14 13 48.15 IFNE 0 genome.wustl.edu 37 9 21481450 21481450 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 21481450 21481450 G T SNP IFNE ENST00000448696 human ensembl 74_37 -1 known missense c.244 p.H82N 0.858 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNE HGNC ENSG00000184995 21 0 0.00 18 2 10.00 IFNL2 0 genome.wustl.edu 37 19 39760216 39760216 + Missense_Mutation SNP T T G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 39760216 39760216 T G SNP IFNL2 ENST00000331982 human ensembl 74_37 +1 known missense c.359 p.V120G 0.001 NULL NULL - no_errors IFNL2 HGNC ENSG00000183709 tier1 - - 140 0 0.00 129 15 10.34 IFNL2 0 genome.wustl.edu 37 19 39760220 39760220 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 39760220 39760220 C T SNP IFNL2 ENST00000331982 human ensembl 74_37 +1 known silent c.363 p.D121 0.000 NULL NULL - no_errors IFNL2 HGNC ENSG00000183709 tier1 - - 145 0 0.00 136 18 11.69 IFNL2 0 genome.wustl.edu 37 19 39760143 39760143 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 39760143 39760143 A G SNP IFNL2 ENST00000331982 human ensembl 74_37 +1 known missense c.286 p.M96V 0.009 NULL NULL - no_errors IFNL2 HGNC ENSG00000183709 100 0 0.00 91 10 9.90 IFNL3 0 genome.wustl.edu 37 19 39734659 39734659 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 39734659 39734659 G A SNP IFNL3 ENST00000413851 human ensembl 74_37 -1 known missense c.397 p.L133F 0.018 NULL NULL - no_errors IFNL3 HGNC ENSG00000197110 tier1 rs149832972 - 138 0 0.00 75 7 8.54 IFNL3 0 genome.wustl.edu 37 19 39734490 39734490 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 39734490 39734490 G A SNP IFNL3 ENST00000413851 human ensembl 74_37 -1 known missense c.466 p.H156Y 0.959 NULL NULL - no_errors IFNL3 HGNC ENSG00000197110 207 0 0.00 90 9 9.09 IFT172 0 genome.wustl.edu 37 2 27682634 27682634 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 27682634 27682634 C - DEL IFT172 ENST00000260570 human ensembl 74_37 -1 known frame_shift_del c.2584 p.D862fs 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 tier1 84 0 0.00 69 27 28.12 IFT172 0 genome.wustl.edu 37 2 27695198 27695198 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 27695198 27695198 G A SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known silent c.1443 p.T481 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 tier1 - - 35 0 0.00 23 15 39.47 IFT80 0 genome.wustl.edu 37 3 160156368 160156368 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 160156368 160156368 T - DEL IFT80 ENST00000483754 human ensembl 74_37 -1 known frame_shift_del c.604 p.S202fs 0.000 NULL pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RP11-432B6.3 Clone_based_vega_gene ENSG00000248710 tier1 22 0 0.00 12 9 42.86 IFT81 0 genome.wustl.edu 37 12 110655906 110655906 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 110655906 110655906 G T SNP IFT81 ENST00000242591 human ensembl 74_37 +1 known missense c.1906 p.A636S 0.997 NULL NULL - no_errors IFT81 HGNC ENSG00000122970 tier1 - - 78 0 0.00 67 6 8.22 IGF1R 0 genome.wustl.edu 37 15 99442809 99442809 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 99442809 99442809 A - DEL IGF1R ENST00000268035 human ensembl 74_37 +1 known frame_shift_del c.1206 p.N404fs 0.966 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors IGF1R HGNC ENSG00000140443 tier1 77 0 0.00 56 27 32.53 IGF2 0 genome.wustl.edu 37 11 2156651 2156651 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 2156651 2156651 C T SNP IGF2 ENST00000434045 human ensembl 74_37 -1 known missense c.271 p.G91R 1.000 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Insulin_family,prints_Insulin-like_growth_factor pfam_IGF2_C,pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_IGF2,prints_Insulin_family,prints_Insulin-like_growth_factor - no_errors IGF2 HGNC ENSG00000167244 tier1 - - 134 0 0.00 67 50 42.74 IGF2R 0 genome.wustl.edu 37 6 160496984 160496984 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 160496984 160496984 T C SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known missense c.5272 p.Y1758H 1.000 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 tier1 - - 143 0 0.00 84 37 30.58 IGFN1 0 genome.wustl.edu 37 1 201179060 201179060 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 201179060 201179060 C T SNP IGFN1 ENST00000335211 human ensembl 74_37 +1 known missense c.5039 p.A1680V 0.001 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_dom - no_errors IGFN1 HGNC ENSG00000163395 tier1 - - 124 0 0.00 130 49 27.37 IGLV6-57 0 genome.wustl.edu 37 22 22550472 22550472 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 22550472 22550472 G T SNP IGLV6-57 ENST00000390285 human ensembl 74_37 +1 known missense c.149 p.S50I 0.000 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGLV6-57 HGNC ENSG00000211640 tier1 - - 42 0 0.00 43 4 8.51 IGLV6-57 0 genome.wustl.edu 37 22 22550623 22550623 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 22550623 22550623 G T SNP IGLV6-57 ENST00000390285 human ensembl 74_37 +1 known silent c.300 p.L100 0.000 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGLV6-57 HGNC ENSG00000211640 tier1 - - 43 0 0.00 35 4 10.26 IGSF10 0 genome.wustl.edu 37 3 151164703 151164703 + Silent SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 151164703 151164703 A G SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known silent c.3066 p.I1022 0.001 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 tier1 - - 40 0 0.00 24 20 45.45 IGSF10 0 genome.wustl.edu 37 3 151165983 151165983 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 151165983 151165983 G T SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.1786 p.H596N 0.291 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 tier1 - - 59 0 0.00 35 19 35.19 IGSF9 0 genome.wustl.edu 37 1 159899747 159899747 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 159899747 159899747 G A SNP IGSF9 ENST00000368094 human ensembl 74_37 -1 known missense c.2083 p.R695C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9 HGNC ENSG00000085552 tier1 - - 69 0 0.00 56 13 18.84 IGSF9B 0 genome.wustl.edu 37 11 133795702 133795702 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 133795702 133795702 G A SNP IGSF9B ENST00000321016 human ensembl 74_37 -1 known missense c.1966 p.R656C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9B HGNC ENSG00000080854 tier1 - - 67 0 0.00 29 22 43.14 IKBKAP 0 genome.wustl.edu 37 9 111660955 111660955 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 111660955 111660955 G T SNP IKBKAP ENST00000374647 human ensembl 74_37 -1 known missense c.2279 p.P760H 1.000 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 tier1 - - 51 0 0.00 57 6 9.52 IL13RA1 0 genome.wustl.edu 37 X 117904307 117904307 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 117904307 117904307 G A SNP IL13RA1 ENST00000371637 human ensembl 74_37 +1 known missense c.80 p.R27H 0.000 NULL NULL - no_errors IL13RA1 HGNC ENSG00000131724 tier1 - - 53 0 0.00 5 19 79.17 IL15RA 0 genome.wustl.edu 37 10 6008125 6008125 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 6008125 6008125 G T SNP IL15RA ENST00000379977 human ensembl 74_37 -1 known missense c.266 p.P89H 0.981 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors IL15RA HGNC ENSG00000134470 tier1 - - 40 0 0.00 41 4 8.89 IL16 0 genome.wustl.edu 37 15 81598438 81598438 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 81598438 81598438 C T SNP IL16 ENST00000302987 human ensembl 74_37 +1 known missense c.3610 p.P1204S 0.000 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_IL-16 - no_errors IL16 HGNC ENSG00000172349 tier1 - - 33 0 0.00 20 7 25.93 IL17RC 0 genome.wustl.edu 37 3 9962221 9962221 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 9962221 9962221 T C SNP IL17RC ENST00000295981 human ensembl 74_37 +1 known missense c.725 p.V242A 0.980 NULL pfam_SEFIR - no_errors IL17RC HGNC ENSG00000163702 tier1 - - 57 0 0.00 27 23 46.00 IL17RD 0 genome.wustl.edu 37 3 57131680 57131680 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 57131680 57131680 G A SNP IL17RD ENST00000296318 human ensembl 74_37 -1 known missense c.2051 p.T684M 0.000 NULL pfam_SEFIR,superfamily_TIR_dom - no_errors IL17RD HGNC ENSG00000144730 tier1 - - 59 0 0.00 42 18 30.00 IL17RD 0 genome.wustl.edu 37 3 57132270 57132270 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 57132270 57132270 G A SNP IL17RD ENST00000296318 human ensembl 74_37 -1 known silent c.1461 p.D487 0.983 pfam_SEFIR pfam_SEFIR,superfamily_TIR_dom - no_errors IL17RD HGNC ENSG00000144730 tier1 - - 30 0 0.00 11 4 26.67 IL19 0 genome.wustl.edu 37 1 207010076 207010076 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 207010076 207010076 C T SNP IL19 ENST00000340758 human ensembl 74_37 +1 known silent c.183 p.H61 0.000 superfamily_4_helix_cytokine-like_core pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core,prints_IL-19,prints_IL-24 - no_errors IL19 HGNC ENSG00000142224 tier1 - - 53 0 0.00 53 23 30.26 IL1RL1 0 genome.wustl.edu 37 2 102956601 102956601 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 102956601 102956601 A - DEL IL1RL1 ENST00000233954 human ensembl 74_37 +1 known frame_shift_del c.316 p.K107fs 0.010 NULL pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,prints_IL-1_rcpt_I/II-typ,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL1RL1 HGNC ENSG00000115602 tier1 25 0 0.00 26 9 25.71 IL1RL2 0 genome.wustl.edu 37 2 102851427 102851427 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 102851427 102851427 G A SNP IL1RL2 ENST00000264257 human ensembl 74_37 +1 known silent c.1368 p.S456 0.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ,prints_IL-1_rcpt_I-typ - no_errors IL1RL2 HGNC ENSG00000115598 tier1 - - 70 0 0.00 56 25 30.86 IL36G 0 genome.wustl.edu 37 2 113737642 113737643 + Frame_Shift_Ins INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 113737642 113737643 - A INS IL36G ENST00000259205 human ensembl 74_37 +1 known frame_shift_ins c.217_218 p.D73fs 0.000:0.000 pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1 pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36,prints_IL-1 - no_errors IL36G HGNC ENSG00000136688 tier1 32 0 0.00 17 10 37.04 ILK 0 genome.wustl.edu 37 11 6629392 6629392 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 6629392 6629392 C - DEL ILK ENST00000299421 human ensembl 74_37 +1 known frame_shift_del c.206 p.L71fs 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Integrin-linked_kinase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ILK HGNC ENSG00000166333 tier1 91 0 0.00 40 21 34.43 IMMT 0 genome.wustl.edu 37 2 86385684 86385685 + RNA DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 86385684 86385685 AA - DEL IMMT ENST00000490238 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors IMMT HGNC ENSG00000132305 tier1 60 0 0.00 42 19 31.15 IMPDH1 0 genome.wustl.edu 37 7 128035269 128035269 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 128035269 128035269 G T SNP IMPDH1 ENST00000338791 human ensembl 74_37 -1 known missense c.1321 p.R441S 1.000 pfam_IMP_DH_GMPRt,pfam_2Npropane_dOase,pfam_FMN-dep_DH,tigrfam_IMP_DH pfam_IMP_DH_GMPRt,pfam_CBS_dom,pfam_2Npropane_dOase,pfam_FMN-dep_DH,smart_CBS_dom,tigrfam_IMP_DH - no_errors IMPDH1 HGNC ENSG00000106348 tier1 - - 63 0 0.00 51 4 7.27 INO80 0 genome.wustl.edu 37 15 41371904 41371904 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 41371904 41371904 G A SNP INO80 ENST00000361937 human ensembl 74_37 -1 known missense c.1126 p.R376W 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors INO80 HGNC ENSG00000128908 tier1 - - 104 0 0.00 57 36 38.71 INO80D 0 genome.wustl.edu 37 2 206882406 206882406 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 206882406 206882406 T - DEL INO80D ENST00000403263 human ensembl 74_37 -1 known frame_shift_del c.1540 p.M514fs 1.000 NULL NULL - no_errors INO80D HGNC ENSG00000114933 tier1 59 0 0.00 34 23 40.35 INPP4A 0 genome.wustl.edu 37 2 99181151 99181151 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 99181151 99181151 C T SNP INPP4A ENST00000074304 human ensembl 74_37 +1 known missense c.2092 p.H698Y 1.000 NULL superfamily_C2_dom - no_errors INPP4A HGNC ENSG00000040933 tier1 - - 59 0 0.00 23 14 37.84 INPP5B 0 genome.wustl.edu 37 1 38355359 38355359 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 38355359 38355359 G A SNP INPP5B ENST00000373023 human ensembl 74_37 -1 known missense c.907 p.R303C 1.000 NULL pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors INPP5B HGNC ENSG00000204084 tier1 - - 48 0 0.00 34 21 38.18 INSM2 0 genome.wustl.edu 37 14 36005057 36005057 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 36005057 36005057 T - DEL INSM2 ENST00000307169 human ensembl 74_37 +1 known frame_shift_del c.1599 p.F535fs 0.624 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors INSM2 HGNC ENSG00000168348 tier1 70 0 0.00 38 19 33.33 INTS1 0 genome.wustl.edu 37 7 1534466 1534466 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 1534466 1534466 G T SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known silent c.2280 p.P760 0.008 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 tier1 - - 52 0 0.00 51 4 7.27 INTS10 0 genome.wustl.edu 37 8 19684060 19684060 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 19684060 19684060 A - DEL INTS10 ENST00000397977 human ensembl 74_37 +1 known frame_shift_del c.1130 p.T379fs 1.000 NULL NULL - no_errors INTS10 HGNC ENSG00000104613 tier1 55 0 0.00 59 16 21.33 INTS10 0 genome.wustl.edu 37 8 19709225 19709225 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 19709225 19709225 G A SNP INTS10 ENST00000397977 human ensembl 74_37 +1 known missense c.2042 p.R681H 1.000 NULL NULL - no_errors INTS10 HGNC ENSG00000104613 tier1 - - 59 0 0.00 51 18 26.09 IPO4 0 genome.wustl.edu 37 14 24654089 24654089 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 24654089 24654089 G A SNP IPO4 ENST00000354464 human ensembl 74_37 -1 known silent c.1506 p.S502 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors IPO4 HGNC ENSG00000196497 tier1 - - 62 0 0.00 31 27 45.00 IQCF1 0 genome.wustl.edu 37 3 51929229 51929229 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 51929229 51929229 G T SNP IQCF1 ENST00000310914 human ensembl 74_37 -1 known missense c.295 p.Q99K 0.642 superfamily_P-loop_NTPase pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCF1 HGNC ENSG00000173389 tier1 - - 22 0 0.00 21 4 16.00 IQGAP2 0 genome.wustl.edu 37 5 76003254 76003254 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 76003254 76003254 A - DEL IQGAP2 ENST00000508410 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors IQGAP2 HGNC ENSG00000145703 tier1 44 0 0.00 44 5 10.20 IQSEC2 0 genome.wustl.edu 37 X 53285056 53285056 + Missense_Mutation SNP C C G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 53285056 53285056 C G SNP IQSEC2 ENST00000396435 human ensembl 74_37 -1 known missense c.925 p.E309Q 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_P-loop_NTPase,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC2 HGNC ENSG00000124313 tier1 - - 32 0 0.00 5 21 80.77 IQUB 0 genome.wustl.edu 37 7 123092969 123092969 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 123092969 123092969 C T SNP IQUB ENST00000324698 human ensembl 74_37 -1 known missense c.2204 p.R735H 0.000 NULL pfam_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors IQUB HGNC ENSG00000164675 tier1 - - 24 0 0.00 17 11 39.29 IRF2BP2 0 genome.wustl.edu 37 1 234743089 234743089 + Nonsense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 234743089 234743089 G A SNP IRF2BP2 ENST00000366609 human ensembl 74_37 -1 novel nonsense c.1558 p.Q520* 1.000 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BP2 HGNC ENSG00000168264 tier1 - - 65 0 0.00 71 4 5.26 IRS1 0 genome.wustl.edu 37 2 227663183 227663183 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 227663183 227663183 T C SNP IRS1 ENST00000305123 human ensembl 74_37 -1 known missense c.272 p.E91G 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 tier1 - - 79 0 0.00 40 41 50.62 IRS1 0 genome.wustl.edu 37 2 227663189 227663189 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 227663189 227663189 C T SNP IRS1 ENST00000305123 human ensembl 74_37 -1 known missense c.266 p.R89Q 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 tier1 - - 89 0 0.00 56 28 33.33 IRS2 0 genome.wustl.edu 37 13 110435020 110435020 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 110435020 110435020 C T SNP IRS2 ENST00000375856 human ensembl 74_37 -1 known silent c.3381 p.P1127 0.228 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 ENSG00000185950 tier1 - - 28 0 0.00 29 11 27.50 IRS2 0 genome.wustl.edu 37 13 110436713 110436713 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 110436713 110436713 G A SNP IRS2 ENST00000375856 human ensembl 74_37 -1 known missense c.1688 p.A563V 0.157 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 ENSG00000185950 tier1 - - 24 0 0.00 14 8 36.36 IRX1 0 genome.wustl.edu 37 5 3599698 3599698 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 3599698 3599698 C T SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known silent c.636 p.G212 0.995 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 tier1 - - 56 0 0.00 59 15 20.27 IRX1 0 genome.wustl.edu 37 5 3599713 3599713 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 3599713 3599713 C T SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known silent c.651 p.A217 0.995 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 tier1 - - 53 0 0.00 49 18 26.87 IRX1 0 genome.wustl.edu 37 5 3600309 3600309 + Missense_Mutation SNP T T A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 3600309 3600309 T A SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known missense c.1247 p.V416D 0.003 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 tier1 - - 20 0 0.00 10 22 68.75 ISL2 0 genome.wustl.edu 37 15 76633630 76633630 + Silent SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 76633630 76633630 C A SNP ISL2 ENST00000290759 human ensembl 74_37 +1 known silent c.951 p.A317 0.999 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors ISL2 HGNC ENSG00000159556 tier1 - - 32 0 0.00 12 11 47.83 ISM1 0 genome.wustl.edu 37 20 13269234 13269234 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 13269234 13269234 G A SNP ISM1 ENST00000262487 human ensembl 74_37 +1 known missense c.691 p.V231I 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt - no_errors ISM1 HGNC ENSG00000101230 tier1 - - 65 0 0.00 28 15 34.88 ISM1 0 genome.wustl.edu 37 20 13279856 13279856 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 13279856 13279856 C T SNP ISM1 ENST00000262487 human ensembl 74_37 +1 known missense c.1145 p.A382V 1.000 pfam_AMOP,smart_AMOP,pfscan_AMOP pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt - no_errors ISM1 HGNC ENSG00000101230 tier1 - - 21 0 0.00 15 10 40.00 ITGA10 0 genome.wustl.edu 37 1 145532467 145532467 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 145532467 145532467 A G SNP ITGA10 ENST00000369304 human ensembl 74_37 +1 known missense c.920 p.H307R 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA10 HGNC ENSG00000143127 tier1 - - 29 0 0.00 10 20 66.67 ITGA2 0 genome.wustl.edu 37 5 52351981 52351982 + Splice_Site INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 52351981 52351982 - A INS ITGA2 ENST00000296585 human ensembl 74_37 +1 known splice_site_ins c.1096+2_1096+1 e9+2 1.000:1.000 - - - no_errors ITGA2 HGNC ENSG00000164171 tier1 21 0 0.00 19 10 34.48 ITGA2 0 genome.wustl.edu 37 5 52369001 52369001 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 52369001 52369001 C T SNP ITGA2 ENST00000296585 human ensembl 74_37 +1 known missense c.2483 p.T828M 0.159 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA2 HGNC ENSG00000164171 tier1 rs79932422 - 46 0 0.00 23 22 48.89 ITGA4 0 genome.wustl.edu 37 2 182347339 182347339 + Missense_Mutation SNP A A T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 182347339 182347339 A T SNP ITGA4 ENST00000397033 human ensembl 74_37 +1 known missense c.1002 p.R334S 0.981 pfam_FG-GAP,smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 tier1 - - 116 0 0.00 66 37 35.92 ITGA8 0 genome.wustl.edu 37 10 15573078 15573078 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 15573078 15573078 G T SNP ITGA8 ENST00000378076 human ensembl 74_37 -1 known missense c.2953 p.P985T 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 tier1 - - 39 0 0.00 54 4 6.90 ITGAD 0 genome.wustl.edu 37 16 31425890 31425890 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 31425890 31425890 G - DEL ITGAD ENST00000389202 human ensembl 74_37 +1 known frame_shift_del c.2115 p.I707fs 0.803 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAD HGNC ENSG00000156886 tier1 71 0 0.00 42 19 31.15 ITGB4 0 genome.wustl.edu 37 17 73732134 73732134 + Nonsense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 73732134 73732134 C T SNP ITGB4 ENST00000200181 human ensembl 74_37 +1 known nonsense c.1660 p.R554* 1.000 pirsf_Integrin_bsu-4,pfam_EGF_extracell pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 tier1 rs121912462 - 39 0 0.00 14 11 44.00 ITPKA 0 genome.wustl.edu 37 15 41794044 41794044 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 41794044 41794044 C T SNP ITPKA ENST00000260386 human ensembl 74_37 +1 known silent c.798 p.G266 0.973 pfam_IPK pfam_IPK - no_errors ITPKA HGNC ENSG00000137825 tier1 - - 54 0 0.00 27 26 49.06 ITPKB 0 genome.wustl.edu 37 1 226924171 226924171 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 226924171 226924171 G T SNP ITPKB ENST00000272117 human ensembl 74_37 -1 known missense c.989 p.A330D 0.000 NULL pfam_IPK - no_errors ITPKB HGNC ENSG00000143772 tier1 - - 70 0 0.00 86 5 5.49 ITPR2 0 genome.wustl.edu 37 12 26629856 26629856 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 26629856 26629856 G T SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known missense c.6208 p.P2070T 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 tier1 - - 38 0 0.00 73 4 5.19 ITPRIP 0 genome.wustl.edu 37 10 106074319 106074319 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 106074319 106074319 G A SNP ITPRIP ENST00000278071 human ensembl 74_37 -1 known silent c.1491 p.A497 0.922 NULL NULL - no_errors ITPRIP HGNC ENSG00000148841 tier1 - - 31 0 0.00 23 12 34.29 ITSN1 0 genome.wustl.edu 37 21 35209308 35209309 + RNA INS - - C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 35209308 35209309 - C INS ITSN1 ENST00000472548 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors ITSN1 HGNC ENSG00000205726 tier1 36 0 0.00 23 21 47.73 IVD 0 genome.wustl.edu 37 15 40705232 40705232 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 40705232 40705232 G T SNP IVD ENST00000487418 human ensembl 74_37 +1 known missense c.739 p.G247W 1.000 superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors IVD HGNC ENSG00000128928 tier1 - - 44 0 0.00 45 4 8.16 IVL 0 genome.wustl.edu 37 1 152883089 152883089 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 152883089 152883089 G T SNP IVL ENST00000368764 human ensembl 74_37 +1 known missense c.816 p.Q272H 0.120 pfam_Involucrin_rpt pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 tier1 - - 98 0 0.00 101 28 21.71 JKAMP 0 genome.wustl.edu 37 14 59961902 59961902 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 59961902 59961902 G A SNP JKAMP ENST00000356057 human ensembl 74_37 +1 known missense c.442 p.V148I 0.002 pfam_DUF766 pfam_DUF766 - no_errors JKAMP HGNC ENSG00000050130 tier1 - - 107 0 0.00 83 34 29.06 JMJD1C 0 genome.wustl.edu 37 10 64974152 64974152 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 64974152 64974152 T C SNP JMJD1C ENST00000399262 human ensembl 74_37 -1 known missense c.1775 p.E592G 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 tier1 - - 45 0 0.00 33 17 34.00 JMJD7-PLA2G4B 0 genome.wustl.edu 37 15 42127036 42127036 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 42127036 42127036 C T SNP JMJD7-PLA2G4B ENST00000382448 human ensembl 74_37 +1 known missense c.163 p.R55C 1.000 NULL pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors JMJD7-PLA2G4B HGNC ENSG00000168970 tier1 - - 57 0 0.00 26 6 18.75 JPH3 0 genome.wustl.edu 37 16 87723991 87723991 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 87723991 87723991 G T SNP JPH3 ENST00000284262 human ensembl 74_37 +1 known silent c.2025 p.V675 0.895 pirsf_Junctophilin pirsf_Junctophilin,pfam_MORN,smart_MORN - no_errors JPH3 HGNC ENSG00000154118 tier1 - - 72 0 0.00 46 7 13.21 JSRP1 0 genome.wustl.edu 37 19 2252783 2252783 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 2252783 2252783 C T SNP JSRP1 ENST00000300961 human ensembl 74_37 -1 known missense c.541 p.A181T 0.010 NULL NULL - no_errors JSRP1 HGNC ENSG00000167476 tier1 - - 65 0 0.00 30 17 36.17 KALRN 0 genome.wustl.edu 37 3 124397062 124397062 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 124397062 124397062 C T SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.7219 p.R2407C 1.000 NULL pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 tier1 - - 48 0 0.00 29 10 25.64 KANK1 0 genome.wustl.edu 37 9 742405 742405 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 742405 742405 C T SNP KANK1 ENST00000382297 human ensembl 74_37 +1 known silent c.3897 p.N1299 0.911 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 tier1 - - 29 0 0.00 19 12 38.71 KANSL2 0 genome.wustl.edu 37 12 49075916 49075916 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 49075916 49075916 G A SNP KANSL2 ENST00000550347 human ensembl 74_37 -1 putative missense c.49 p.L17F 0.007 NULL NULL - no_errors KANSL2 HGNC ENSG00000139620 tier1 - - 22 0 0.00 13 5 27.78 KAT2B 0 genome.wustl.edu 37 3 20142821 20142821 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 20142821 20142821 G T SNP KAT2B ENST00000263754 human ensembl 74_37 +1 known missense c.712 p.A238S 0.980 pirsf_Hist_acetylase_PCAF,pfam_PCAF_N pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom - no_errors KAT2B HGNC ENSG00000114166 tier1 - - 59 0 0.00 62 4 6.06 KAT6A 0 genome.wustl.edu 37 8 41838388 41838388 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 41838388 41838388 G T SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.883 p.P295T 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 28 0 0.00 57 3 5.00 KCNA6 0 genome.wustl.edu 37 12 4919978 4919978 + Silent SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 4919978 4919978 C A SNP KCNA6 ENST00000280684 human ensembl 74_37 +1 known silent c.771 p.S257 0.999 prints_K_chnl_volt-dep_Kv1.6 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC ENSG00000151079 tier1 - - 26 0 0.00 51 12 19.05 KCNAB2 0 genome.wustl.edu 37 1 6111717 6111717 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 6111717 6111717 C T SNP KCNAB2 ENST00000378083 human ensembl 74_37 +1 known missense c.121 p.R41W 1.000 NULL pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB2,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB2 HGNC ENSG00000069424 14 0 0.00 6 4 40.00 KCNB2 0 genome.wustl.edu 37 8 73480397 73480397 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 73480397 73480397 A - DEL KCNB2 ENST00000523207 human ensembl 74_37 +1 known frame_shift_del c.428 p.E146fs 1.000 prints_K_chnl_volt-dep_Kv2 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 tier1 52 0 0.00 33 15 31.25 KCNB2 0 genome.wustl.edu 37 8 73849363 73849363 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 73849363 73849363 C T SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known silent c.1773 p.T591 0.022 pfam_K_chnl_volt-dep_Kv2 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 tier1 rs146092769 - 22 0 0.00 25 8 24.24 KCNC3 0 genome.wustl.edu 37 19 50819305 50819305 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 50819305 50819305 G - DEL KCNC3 ENST00000391818 human ensembl 74_37 -1 known frame_shift_del c.224 p.P75fs 1.000 NULL NULL - no_errors KCNC3 HGNC ENSG00000131398 tier1 24 0 0.00 13 10 43.48 KCND3 0 genome.wustl.edu 37 1 112525257 112525257 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 112525257 112525257 G A SNP KCND3 ENST00000315987 human ensembl 74_37 -1 known missense c.92 p.P31L 1.000 pfam_Shal-type,prints_K_chnl_volt-dep_Kv4.3 pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND3 HGNC ENSG00000171385 tier1 - - 50 0 0.00 26 16 38.10 KCNH1 0 genome.wustl.edu 37 1 210948724 210948724 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 210948724 210948724 C T SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known missense c.2078 p.R693Q 1.000 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 tier1 - - 58 0 0.00 58 35 37.63 KCNH2 0 genome.wustl.edu 37 7 150647021 150647021 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 150647021 150647021 C T SNP KCNH2 ENST00000430723 human ensembl 74_37 -1 known missense c.2633 p.R878H 0.021 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,tigrfam_PAS - no_errors KCNH2 HGNC ENSG00000055118 tier1 - - 71 0 0.00 47 8 14.55 KCNH3 0 genome.wustl.edu 37 12 49937631 49937631 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 49937631 49937631 C T SNP KCNH3 ENST00000550434 human ensembl 74_37 +1 known rna NULL NULL 0.017 - - - no_errors KCNH3 HGNC ENSG00000135519 tier1 - - 79 0 0.00 79 6 7.06 KCNH3 0 genome.wustl.edu 37 12 49943310 49943310 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 49943310 49943310 C T SNP KCNH3 ENST00000257981 human ensembl 74_37 +1 known missense c.1555 p.R519C 1.000 superfamily_cNMP-bd-like pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC ENSG00000135519 tier1 - - 88 0 0.00 33 25 43.10 KCNH8 0 genome.wustl.edu 37 3 19190243 19190243 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 19190243 19190243 A - DEL KCNH8 ENST00000328405 human ensembl 74_37 +1 known frame_shift_del c.32 p.N12fs 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 tier1 112 0 0.00 54 32 37.21 KCNJ10 0 genome.wustl.edu 37 1 160011799 160011799 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 160011799 160011799 C T SNP KCNJ10 ENST00000368089 human ensembl 74_37 -1 known missense c.524 p.R175Q 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.2,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ10 HGNC ENSG00000177807 tier1 - - 35 0 0.00 48 15 23.81 KCNT1 0 genome.wustl.edu 37 9 138594199 138594199 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 138594199 138594199 G A SNP KCNT1 ENST00000298480 human ensembl 74_37 +1 known missense c.95 p.G32D 0.288 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT1 HGNC ENSG00000107147 tier1 - - 17 0 0.00 4 8 66.67 KCNU1 0 genome.wustl.edu 37 8 36793351 36793351 + Silent SNP T T G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 36793351 36793351 T G SNP KCNU1 ENST00000399881 human ensembl 74_37 +1 known silent c.3363 p.P1121 0.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 tier1 - - 48 0 0.00 46 25 35.21 KCNV1 0 genome.wustl.edu 37 8 110980379 110980379 + Nonsense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 110980379 110980379 G A SNP KCNV1 ENST00000297404 human ensembl 74_37 -1 known nonsense c.1441 p.R481* 1.000 prints_K_chnl_volt-dep_Kv8 pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 tier1 - - 47 0 0.00 51 22 30.14 KCNV1 0 genome.wustl.edu 37 8 110984520 110984520 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 110984520 110984520 G T SNP KCNV1 ENST00000297404 human ensembl 74_37 -1 known missense c.958 p.L320M 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 36 0 0.00 48 3 5.88 KCTD15 0 genome.wustl.edu 37 19 34304928 34304928 + RNA DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 34304928 34304928 C - DEL KCTD15 ENST00000592363 human ensembl 74_37 +1 putative rna NULL NULL 0.001 - - - no_errors KCTD15 HGNC ENSG00000153885 tier1 22 0 0.00 24 9 27.27 KCTD19 0 genome.wustl.edu 37 16 67325658 67325658 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 67325658 67325658 G - DEL KCTD19 ENST00000304372 human ensembl 74_37 -1 known frame_shift_del c.2301 p.V768fs 0.051 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD19 HGNC ENSG00000168676 tier1 70 0 0.00 13 20 60.61 KCTD8 0 genome.wustl.edu 37 4 44177100 44177100 + Nonsense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 44177100 44177100 G A SNP KCTD8 ENST00000360029 human ensembl 74_37 -1 known nonsense c.1129 p.Q377* 0.968 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD8 HGNC ENSG00000183783 tier1 - - 107 0 0.00 126 15 10.64 KDM1B 0 genome.wustl.edu 37 6 18212815 18212815 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 18212815 18212815 G T SNP KDM1B ENST00000388870 human ensembl 74_37 +1 known missense c.1966 p.G656C 1.000 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_Znf_CW,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_SWIRM,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pfscan_SWIRM,pfscan_Znf_CW - no_errors KDM1B HGNC ENSG00000165097 tier1 - - 98 0 0.00 103 7 6.36 KDM4A-AS1 0 genome.wustl.edu 37 1 44169066 44169069 + RNA DEL TTTT TTTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTTT TTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 44169066 44169069 TTTT - DEL KDM4A-AS1 ENST00000453015 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.002:0.003:0.002 - - - no_errors KDM4A-AS1 HGNC ENSG00000236200 tier1 13 0 0.00 5 3 37.50 KDM4E 0 genome.wustl.edu 37 11 94758856 94758856 + Silent SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 94758856 94758856 T C SNP KDM4E ENST00000450979 human ensembl 74_37 +1 known silent c.135 p.L45 0.040 pfam_TF_JmjN,smart_TF_JmjN,pfscan_TF_JmjN pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4E HGNC ENSG00000235268 tier1 rs2020207 - 32 0 0.00 20 6 23.08 KDM5A 0 genome.wustl.edu 37 12 416953 416953 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 416953 416953 T - DEL KDM5A ENST00000399788 human ensembl 74_37 -1 known frame_shift_del c.3597 p.G1200fs 0.987 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 tier1 40 0 0.00 78 23 22.77 KDM5B 0 genome.wustl.edu 37 1 202710852 202710853 + Splice_Site INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 202710852 202710853 - A INS KDM5B ENST00000367264 human ensembl 74_37 -1 known splice_site_ins c.2698-3_2698-2 e20-2 1.000:0.010 - - - no_errors KDM5B HGNC ENSG00000117139 tier1 23 0 0.00 45 13 22.41 KDM6B 0 genome.wustl.edu 37 17 7750429 7750429 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 7750429 7750429 C T SNP KDM6B ENST00000254846 human ensembl 74_37 +1 known missense c.916 p.R306W 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 tier1 - - 31 0 0.00 17 14 45.16 KEAP1 0 genome.wustl.edu 37 19 10610581 10610581 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 10610581 10610581 C T SNP KEAP1 ENST00000171111 human ensembl 74_37 -1 known silent c.129 p.T43 0.979 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KEAP1 HGNC ENSG00000079999 tier1 - - 59 0 0.00 26 10 27.78 KHDRBS3 0 genome.wustl.edu 37 8 136659489 136659492 + RNA DEL AAAA AAAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 136659489 136659492 AAAA - DEL KHDRBS3 ENST00000518728 human ensembl 74_37 +1 putative rna NULL NULL 1.000:1.000:1.000:0.910 - - - no_errors KHDRBS3 HGNC ENSG00000131773 tier1 9 0 0.00 19 13 40.62 KIAA0100 0 genome.wustl.edu 37 17 26962454 26962454 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 26962454 26962454 G A SNP KIAA0100 ENST00000528896 human ensembl 74_37 -1 known silent c.2151 p.G717 0.000 NULL pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 tier1 - - 83 0 0.00 46 43 48.31 KIAA0195 0 genome.wustl.edu 37 17 73490811 73490811 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 73490811 73490811 C T SNP KIAA0195 ENST00000314256 human ensembl 74_37 +1 known silent c.2511 p.I837 0.929 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 tier1 - - 130 0 0.00 67 48 41.74 KIAA0226 0 genome.wustl.edu 37 3 197428645 197428645 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 197428645 197428645 A G SNP KIAA0226 ENST00000296343 human ensembl 74_37 -1 known missense c.661 p.Y221H 0.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors KIAA0226 HGNC ENSG00000145016 tier1 - - 120 0 0.00 90 39 30.23 KIAA0226L 0 genome.wustl.edu 37 13 46946506 46946506 + Silent SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 46946506 46946506 A G SNP KIAA0226L ENST00000389908 human ensembl 74_37 -1 known silent c.105 p.T35 0.000 NULL NULL - no_errors KIAA0226L HGNC ENSG00000102445 tier1 - - 119 0 0.00 98 39 28.47 KIAA0355 0 genome.wustl.edu 37 19 34818368 34818368 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 34818368 34818368 G T SNP KIAA0355 ENST00000299505 human ensembl 74_37 +1 known missense c.748 p.A250S 1.000 NULL NULL - no_errors KIAA0355 HGNC ENSG00000166398 tier1 - - 58 0 0.00 48 4 7.69 KIAA1161 0 genome.wustl.edu 37 9 34371719 34371719 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 34371719 34371719 C T SNP KIAA1161 ENST00000297625 human ensembl 74_37 -1 known missense c.1121 p.R374H 0.999 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF - no_errors KIAA1161 HGNC ENSG00000164976 tier1 - - 17 0 0.00 13 9 40.91 KIAA1199 0 genome.wustl.edu 37 15 81217986 81217986 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 81217986 81217986 C T SNP KIAA1199 ENST00000220244 human ensembl 74_37 +1 known silent c.2310 p.A770 0.142 superfamily_Pectin_lyase_fold/virulence pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 tier1 - - 92 0 0.00 39 25 39.06 KIAA1217 0 genome.wustl.edu 37 10 24784015 24784018 + RNA DEL AAAA AAAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 24784015 24784018 AAAA - DEL KIAA1217 ENST00000460373 human ensembl 74_37 +1 putative rna NULL NULL 0.000:0.003:0.002:0.000 - - - no_errors KIAA1217 HGNC ENSG00000120549 tier1 23 0 0.00 19 11 36.67 KIAA1244 0 genome.wustl.edu 37 6 138655275 138655275 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 138655275 138655275 G A SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known missense c.5292 p.M1764I 1.000 NULL pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 tier1 - - 26 0 0.00 12 6 33.33 KIAA1377 0 genome.wustl.edu 37 11 101793464 101793465 + Frame_Shift_Ins INS - - T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 101793464 101793465 - T INS KIAA1377 ENST00000263468 human ensembl 74_37 +1 known frame_shift_ins c.221_222 p.V76fs 1.000:1.000 NULL NULL - no_errors KIAA1377 HGNC ENSG00000110318 tier1 24 0 0.00 25 9 26.47 KIAA1456 0 genome.wustl.edu 37 8 12878882 12878882 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 12878882 12878882 G A SNP KIAA1456 ENST00000524591 human ensembl 74_37 +1 known missense c.694 p.E232K 0.695 NULL pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel - no_errors KIAA1456 HGNC ENSG00000250305 tier1 - - 54 0 0.00 60 17 22.08 KIAA1467 0 genome.wustl.edu 37 12 13221246 13221246 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 13221246 13221246 T C SNP KIAA1467 ENST00000197268 human ensembl 74_37 +1 known missense c.1151 p.V384A 0.999 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors KIAA1467 HGNC ENSG00000084444 tier1 - - 62 0 0.00 87 16 15.53 KIAA1549 0 genome.wustl.edu 37 7 138603524 138603524 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 138603524 138603524 A - DEL KIAA1549 ENST00000422774 human ensembl 74_37 -1 known frame_shift_del c.848 p.L283fs 0.001 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 tier1 24 0 0.00 17 6 26.09 KIAA1614 0 genome.wustl.edu 37 1 180885573 180885574 + Frame_Shift_Ins INS - - C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 180885573 180885574 - C INS KIAA1614 ENST00000367588 human ensembl 74_37 +1 known frame_shift_ins c.334_335 p.K114fs 0.003:0.003 NULL NULL - no_errors KIAA1614 HGNC ENSG00000135835 tier1 85 0 0.00 70 24 25.53 KIAA1731 0 genome.wustl.edu 37 11 93433117 93433117 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 93433117 93433117 C - DEL KIAA1731 ENST00000411936 human ensembl 74_37 +1 known frame_shift_del c.5039 p.P1682fs 0.000 NULL NULL - no_errors KIAA1731 HGNC ENSG00000166004 tier1 55 0 0.00 38 17 30.91 KIAA1755 0 genome.wustl.edu 37 20 36868084 36868084 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 36868084 36868084 G - DEL KIAA1755 ENST00000279024 human ensembl 74_37 -1 known frame_shift_del c.1593 p.S532fs 0.182 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 tier1 46 0 0.00 26 22 45.83 KIAA1875 0 genome.wustl.edu 37 8 145166383 145166383 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 145166383 145166383 G A SNP KIAA1875 ENST00000323662 human ensembl 74_37 +1 putative silent c.2481 p.P827 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1875 HGNC ENSG00000179698 tier1 - - 55 0 0.00 38 18 32.14 KIAA1875 0 genome.wustl.edu 37 8 145169722 145169722 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 145169722 145169722 A G SNP KIAA1875 ENST00000323662 human ensembl 74_37 +1 putative missense c.3985 p.M1329V 0.782 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1875 HGNC ENSG00000179698 tier1 - - 54 0 0.00 49 27 35.53 KIAA2013 0 genome.wustl.edu 37 1 11983512 11983512 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 11983512 11983512 C T SNP KIAA2013 ENST00000376576 human ensembl 74_37 -1 known silent c.1068 p.T356 0.035 pfam_DUF2152 pfam_DUF2152 - no_errors KIAA2013 HGNC ENSG00000116685 tier1 - - 87 0 0.00 60 45 42.86 KIAA2018 0 genome.wustl.edu 37 3 113374557 113374557 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 113374557 113374557 C T SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known missense c.5972 p.R1991H 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 tier1 - - 71 0 0.00 32 24 42.86 KIAA2018 0 genome.wustl.edu 37 3 113380090 113380090 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 113380090 113380090 T - DEL KIAA2018 ENST00000316407 human ensembl 74_37 -1 known frame_shift_del c.439 p.I147fs 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 tier1 84 0 0.00 61 21 25.61 KIAA2026 0 genome.wustl.edu 37 9 5920370 5920370 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 5920370 5920370 T - DEL KIAA2026 ENST00000399933 human ensembl 74_37 -1 novel frame_shift_del c.5626 p.I1876fs 1.000 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 tier1 78 0 0.00 49 29 37.18 KIAA2026 0 genome.wustl.edu 37 9 5968044 5968044 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 5968044 5968044 T - DEL KIAA2026 ENST00000399933 human ensembl 74_37 -1 novel frame_shift_del c.2187 p.A730fs 1.000 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 tier1 52 0 0.00 33 23 41.07 KIDINS220 0 genome.wustl.edu 37 2 8890414 8890414 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 8890414 8890414 G - DEL KIDINS220 ENST00000256707 human ensembl 74_37 -1 known frame_shift_del c.3242 p.P1081fs 0.969 NULL pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 tier1 25 0 0.00 11 6 35.29 KIF13B 0 genome.wustl.edu 37 8 29035024 29035024 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 29035024 29035024 G T SNP KIF13B ENST00000524189 human ensembl 74_37 -1 known silent c.792 p.G264 0.851 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 tier1 - - 52 0 0.00 60 4 6.25 KIF14 0 genome.wustl.edu 37 1 200586843 200586843 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 200586843 200586843 C T SNP KIF14 ENST00000367350 human ensembl 74_37 -1 known missense c.1009 p.E337K 0.147 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF14 HGNC ENSG00000118193 tier1 rs147387069 - 107 0 0.00 143 47 24.61 KIF20B 0 genome.wustl.edu 37 10 91497987 91497987 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 91497987 91497987 A - DEL KIF20B ENST00000416354 human ensembl 74_37 +1 known frame_shift_del c.3479 p.N1162fs 0.300 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 tier1 26 0 0.00 21 11 34.38 KIF21A 0 genome.wustl.edu 37 12 39720131 39720131 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 39720131 39720131 A - DEL KIF21A ENST00000395670 human ensembl 74_37 -1 known frame_shift_del c.3336 p.F1112fs 0.242 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 tier1 17 0 0.00 20 5 20.00 KIF21A 0 genome.wustl.edu 37 12 39726722 39726722 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 39726722 39726722 A G SNP KIF21A ENST00000395670 human ensembl 74_37 -1 known missense c.2675 p.L892S 1.000 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 tier1 - - 69 0 0.00 35 17 32.08 KIF21B 0 genome.wustl.edu 37 1 200954050 200954050 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 200954050 200954050 C T SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known missense c.3740 p.R1247H 1.000 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 tier1 - - 67 0 0.00 61 25 29.07 KIF21B 0 genome.wustl.edu 37 1 200956173 200956173 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 200956173 200956173 G A SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known missense c.3565 p.R1189W 1.000 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 tier1 - - 58 0 0.00 45 16 26.23 KIF24 0 genome.wustl.edu 37 9 34257623 34257623 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 34257623 34257623 T - DEL KIF24 ENST00000379166 human ensembl 74_37 -1 known frame_shift_del c.1982 p.K661fs 0.000 NULL pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_P-loop_NTPase,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC ENSG00000186638 tier1 69 0 0.00 36 23 38.98 KIF26B 0 genome.wustl.edu 37 1 245849621 245849621 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 245849621 245849621 C T SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known silent c.3336 p.G1112 0.001 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 22 0 0.00 40 6 13.04 KIF27 0 genome.wustl.edu 37 9 86452378 86452378 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 86452378 86452378 G T SNP KIF27 ENST00000297814 human ensembl 74_37 -1 known silent c.3744 p.V1248 0.005 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC ENSG00000165115 tier1 - - 38 0 0.00 33 4 10.81 KIF27 0 genome.wustl.edu 37 9 86495276 86495276 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 86495276 86495276 C T SNP KIF27 ENST00000297814 human ensembl 74_37 -1 known missense c.2579 p.R860Q 0.998 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC ENSG00000165115 tier1 rs200952027 - 48 0 0.00 27 5 15.62 KIF3B 0 genome.wustl.edu 37 20 30898271 30898271 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 30898271 30898271 G A SNP KIF3B ENST00000375712 human ensembl 74_37 +1 known missense c.691 p.D231N 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3B HGNC ENSG00000101350 tier1 - - 54 0 0.00 30 6 16.67 KIF6 0 genome.wustl.edu 37 6 39513391 39513391 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 39513391 39513391 G A SNP KIF6 ENST00000287152 human ensembl 74_37 -1 known missense c.1255 p.R419C 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF6 HGNC ENSG00000164627 tier1 - - 54 0 0.00 28 21 42.86 KIF6 0 genome.wustl.edu 37 6 39580993 39580993 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 39580993 39580993 A - DEL KIF6 ENST00000287152 human ensembl 74_37 -1 known frame_shift_del c.611 p.L204fs 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF6 HGNC ENSG00000164627 tier1 39 0 0.00 35 18 33.96 KIN 0 genome.wustl.edu 37 10 7801789 7801789 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 7801789 7801789 A - DEL KIN ENST00000543003 human ensembl 74_37 -1 known frame_shift_del c.865 p.*289fs 0.031 NULL pfam_DNA/RNA-bd_Kin17_cons_domain - no_errors KIN HGNC ENSG00000151657 tier1 27 0 0.00 22 10 31.25 KIR3DL1 0 genome.wustl.edu 37 19 55333053 55333053 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 55333053 55333053 C T SNP KIR3DL1 ENST00000402254 human ensembl 74_37 +1 known missense c.689 p.P230L 0.001 smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DL1 HGNC ENSG00000167633 tier1 - - 131 0 0.00 58 63 52.07 KIR3DL1 0 genome.wustl.edu 37 19 55340914 55340914 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 55340914 55340914 A - DEL KIR3DL1 ENST00000391728 human ensembl 74_37 +1 known frame_shift_del c.1099 p.N369fs 0.004 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DL1 HGNC ENSG00000167633 tier1 238 0 0.00 129 64 33.16 KIRREL 0 genome.wustl.edu 37 1 158054356 158054356 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 158054356 158054356 C T SNP KIRREL ENST00000368173 human ensembl 74_37 +1 known missense c.497 p.A166V 0.989 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL HGNC ENSG00000183853 tier1 - - 67 0 0.00 41 13 23.64 KIRREL 0 genome.wustl.edu 37 1 158064153 158064153 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 158064153 158064153 C T SNP KIRREL ENST00000368173 human ensembl 74_37 +1 known silent c.1818 p.I606 0.270 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL HGNC ENSG00000183853 tier1 - - 28 0 0.00 35 15 30.00 KIRREL3 0 genome.wustl.edu 37 11 126299148 126299148 + Nonsense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 126299148 126299148 G A SNP KIRREL3 ENST00000525144 human ensembl 74_37 -1 known nonsense c.1732 p.R578* 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL3 HGNC ENSG00000149571 tier1 - - 64 0 0.00 37 22 36.67 KIT 0 genome.wustl.edu 37 4 55561889 55561889 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 55561889 55561889 C T SNP KIT ENST00000288135 human ensembl 74_37 +1 known silent c.279 p.G93 0.995 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors KIT HGNC ENSG00000157404 tier1 - - 31 0 0.00 21 18 46.15 KITLG 0 genome.wustl.edu 37 12 88900860 88900860 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 88900860 88900860 A G SNP KITLG ENST00000228280 human ensembl 74_37 -1 known missense c.659 p.L220S 0.961 pfam_SCF,pirsf_SCF pfam_SCF,superfamily_4_helix_cytokine-like_core,pirsf_SCF - no_errors KITLG HGNC ENSG00000049130 tier1 - - 30 0 0.00 28 12 30.00 KLF13 0 genome.wustl.edu 37 15 31669829 31669830 + RNA INS - - T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 31669829 31669830 - T INS KLF13 ENST00000558673 human ensembl 74_37 +1 known rna NULL NULL 0.009:0.003 - - - no_errors KLF13 HGNC ENSG00000169926 tier1 77 0 0.00 61 24 28.24 KLF15 0 genome.wustl.edu 37 3 126070691 126070691 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 126070691 126070691 C T SNP KLF15 ENST00000296233 human ensembl 74_37 -1 known missense c.1075 p.G359S 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF15 HGNC ENSG00000163884 tier1 - - 77 0 0.00 31 21 40.38 KLF17 0 genome.wustl.edu 37 1 44595030 44595030 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 44595030 44595030 C T SNP KLF17 ENST00000372299 human ensembl 74_37 +1 known silent c.87 p.N29 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF17 HGNC ENSG00000171872 tier1 - - 41 0 0.00 31 15 32.61 KLF3 0 genome.wustl.edu 37 4 38690459 38690460 + Frame_Shift_Ins INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 38690459 38690460 - A INS KLF3 ENST00000261438 human ensembl 74_37 +1 known frame_shift_ins c.311_312 p.Y107fs 0.010:0.008 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 tier1 47 0 0.00 35 14 28.57 KLF3 0 genome.wustl.edu 37 4 38690460 38690460 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 38690460 38690460 A - DEL KLF3 ENST00000261438 human ensembl 74_37 +1 known frame_shift_del c.312 p.K106fs 0.008 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 tier1 46 0 0.00 33 16 32.65 KLF3 0 genome.wustl.edu 37 4 38690547 38690547 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 38690547 38690547 G A SNP KLF3 ENST00000261438 human ensembl 74_37 +1 known silent c.399 p.R133 0.894 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 tier1 - - 66 0 0.00 37 22 37.29 KLF7 0 genome.wustl.edu 37 2 207945785 207945786 + RNA INS - - TGTG TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 207945785 207945786 - TGTG INS KLF7 ENST00000467833 human ensembl 74_37 -1 putative rna NULL NULL 1.000:1.000 - - - no_errors KLF7 HGNC ENSG00000118263 tier1 34 0 0.00 50 15 23.08 KLHL17 0 genome.wustl.edu 37 1 900526 900526 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 900526 900526 G A SNP KLHL17 ENST00000338591 human ensembl 74_37 +1 known silent c.1884 p.P628 0.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL17 HGNC ENSG00000187961 tier1 rs146302352 - 167 0 0.00 75 45 37.19 KLHL29 0 genome.wustl.edu 37 2 23785143 23785143 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 23785143 23785143 C T SNP KLHL29 ENST00000486442 human ensembl 74_37 +1 known missense c.77 p.T26M 0.954 NULL pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL29 HGNC ENSG00000119771 tier1 - - 73 0 0.00 38 19 33.33 KLHL38 0 genome.wustl.edu 37 8 124664405 124664405 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 124664405 124664405 G T SNP KLHL38 ENST00000325995 human ensembl 74_37 -1 known silent c.762 p.T254 0.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL38 HGNC ENSG00000175946 40 0 0.00 52 3 5.45 KLHL41 0 genome.wustl.edu 37 2 170366496 170366496 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 170366496 170366496 A - DEL KLHL41 ENST00000284669 human ensembl 74_37 +1 known frame_shift_del c.208 p.K72fs 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL41 HGNC ENSG00000239474 tier1 33 0 0.00 29 14 32.56 KLHL42 0 genome.wustl.edu 37 12 27950769 27950769 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 27950769 27950769 G - DEL KLHL42 ENST00000381271 human ensembl 74_37 +1 known frame_shift_del c.1188 p.C399fs 0.988 NULL pfam_Kelch_1,pfam_BACK,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL42 HGNC ENSG00000087448 tier1 41 0 0.00 51 21 29.17 KLHL7 0 genome.wustl.edu 37 7 23180534 23180534 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 23180534 23180534 G T SNP KLHL7 ENST00000339077 human ensembl 74_37 +1 known missense c.589 p.D197Y 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL7 HGNC ENSG00000122550 tier1 - - 42 0 0.00 67 4 5.63 KLRD1 0 genome.wustl.edu 37 12 10466007 10466007 + Splice_Site SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 10466007 10466007 A G SNP KLRD1 ENST00000336164 human ensembl 74_37 +1 known splice_site c.316-2 e5-2 0.324 - - - no_errors KLRD1 HGNC ENSG00000134539 tier1 - - 45 0 0.00 44 19 30.16 KMT2B 0 genome.wustl.edu 37 19 36210763 36210764 + Frame_Shift_Ins INS - - CC TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 36210763 36210764 - CC INS KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_ins c.514_515 p.K175fs 0.976:0.976 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 tier1 55 0 0.00 37 17 31.48 KMT2B 0 genome.wustl.edu 37 19 36229256 36229256 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 36229256 36229256 G A SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known missense c.7946 p.R2649H 1.000 pirsf_MeTrfase_trithorax,pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 tier1 - - 24 0 0.00 7 6 46.15 KMT2B 0 genome.wustl.edu 37 19 36210771 36210771 + Silent SNP A A C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 36210771 36210771 A C SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known silent c.522 p.P174 1.000 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 57 0 0.00 53 4 7.02 KPNA3 0 genome.wustl.edu 37 13 50279819 50279819 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 50279819 50279819 T - DEL KPNA3 ENST00000261667 human ensembl 74_37 -1 known frame_shift_del c.1310 p.N437fs 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA3 HGNC ENSG00000102753 tier1 61 0 0.00 65 52 44.44 KRI1 0 genome.wustl.edu 37 19 10668530 10668530 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 10668530 10668530 C T SNP KRI1 ENST00000312962 human ensembl 74_37 -1 known silent c.1419 p.K473 0.003 pfam_KRR1-interact_protein_1 pfam_KRR1-interact_protein_1 - no_errors KRI1 HGNC ENSG00000129347 tier1 - - 42 0 0.00 31 10 24.39 KRT10 0 genome.wustl.edu 37 17 38976864 38976864 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 38976864 38976864 G A SNP KRT10 ENST00000269576 human ensembl 74_37 -1 known missense c.766 p.R256C 1.000 pfam_IF,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT10 HGNC ENSG00000186395 tier1 - - 74 0 0.00 83 7 7.78 KRT33A 0 genome.wustl.edu 37 17 39506827 39506827 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 39506827 39506827 C T SNP KRT33A ENST00000007735 human ensembl 74_37 -1 known missense c.193 p.D65N 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT33A HGNC ENSG00000006059 tier1 - - 147 0 0.00 87 50 36.23 KRT6B 0 genome.wustl.edu 37 12 52841135 52841135 + Nonsense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 52841135 52841135 C A SNP KRT6B ENST00000252252 human ensembl 74_37 -1 known nonsense c.1534 p.G512* 0.979 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC ENSG00000185479 tier1 - - 95 0 0.00 69 7 9.21 KRT74 0 genome.wustl.edu 37 12 52967393 52967393 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 52967393 52967393 G A SNP KRT74 ENST00000305620 human ensembl 74_37 -1 known missense c.169 p.R57W 0.000 NULL pfam_IF,prints_Keratin_II - no_errors KRT74 HGNC ENSG00000170484 56 0 0.00 66 4 5.71 KRT9 0 genome.wustl.edu 37 17 39728172 39728172 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 39728172 39728172 C T SNP KRT9 ENST00000246662 human ensembl 74_37 -1 known missense c.73 p.G25R 0.052 NULL pfam_IF,prints_Keratin_I - no_errors KRT9 HGNC ENSG00000171403 12 0 0.00 12 3 20.00 KRTAP10-2 0 genome.wustl.edu 37 21 45970364 45970364 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 45970364 45970364 C T SNP KRTAP10-2 ENST00000498210 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors KRTAP10-2 HGNC ENSG00000205445 tier1 - - 79 0 0.00 46 23 33.33 KRTAP16-1 0 genome.wustl.edu 37 17 39464111 39464111 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 39464111 39464111 T - DEL KRTAP16-1 ENST00000391352 human ensembl 74_37 -1 known frame_shift_del c.1395 p.K465fs 0.028 NULL NULL - no_errors KRTAP16-1 HGNC ENSG00000212657 tier1 36 0 0.00 18 12 40.00 KRTAP22-2 0 genome.wustl.edu 37 21 31962612 31962612 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 31962612 31962612 A G SNP KRTAP22-2 ENST00000382830 human ensembl 74_37 -1 known missense c.82 p.C28R 0.000 NULL NULL - no_errors KRTAP22-2 HGNC ENSG00000206106 tier1 - - 42 0 0.00 38 21 35.59 KRTAP4-3 0 genome.wustl.edu 37 17 39324124 39324124 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 39324124 39324124 G A SNP KRTAP4-3 ENST00000391356 human ensembl 74_37 -1 known missense c.301 p.R101C 0.012 NULL pfam_Keratin-assoc - no_errors KRTAP4-3 HGNC ENSG00000196156 tier1 - - 234 0 0.00 129 83 39.15 KSR2 0 genome.wustl.edu 37 12 117964887 117964887 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 117964887 117964887 G T SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known missense c.1840 p.P614T 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 tier1 - - 51 0 0.00 48 4 7.69 L2HGDH 0 genome.wustl.edu 37 14 50735881 50735881 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 50735881 50735881 C T SNP L2HGDH ENST00000267436 human ensembl 74_37 -1 known silent c.906 p.P302 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors L2HGDH HGNC ENSG00000087299 tier1 rs144701373 - 36 0 0.00 22 12 35.29 LACE1 0 genome.wustl.edu 37 6 108840979 108840979 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 108840979 108840979 G T SNP LACE1 ENST00000368977 human ensembl 74_37 +1 known missense c.1283 p.S428I 1.000 NULL pfam_ATPase_AFG1-like,superfamily_P-loop_NTPase - no_errors LACE1 HGNC ENSG00000135537 39 0 0.00 69 4 5.48 LAD1 0 genome.wustl.edu 37 1 201355590 201355590 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 201355590 201355590 C - DEL LAD1 ENST00000367313 human ensembl 74_37 -1 known frame_shift_del c.941 p.G314fs 0.000 pirsf_Ladinin_1 pirsf_Ladinin_1 - no_errors LAD1 HGNC ENSG00000159166 tier1 114 0 0.00 97 31 24.22 LAMA1 0 genome.wustl.edu 37 18 6948545 6948545 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 6948545 6948545 C A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.8567 p.S2856I 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 - - 98 0 0.00 59 46 43.81 LAMA1 0 genome.wustl.edu 37 18 6961668 6961668 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 6961668 6961668 C T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.7543 p.A2515T 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 - - 40 0 0.00 22 13 37.14 LAMA1 0 genome.wustl.edu 37 18 7049079 7049079 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 7049079 7049079 G A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.766 p.R256C 0.998 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 rs150637419 - 50 0 0.00 27 13 32.50 LAMA5 0 genome.wustl.edu 37 20 60888272 60888272 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 60888272 60888272 C T SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.8827 p.G2943S 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 tier1 - - 45 0 0.00 43 16 27.12 LAMA5 0 genome.wustl.edu 37 20 60895716 60895716 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 60895716 60895716 G A SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.6658 p.R2220W 0.996 pfam_Laminin_I pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 38 0 0.00 14 9 39.13 LAMB2 0 genome.wustl.edu 37 3 49163123 49163123 + RNA SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 49163123 49163123 A G SNP LAMB2 ENST00000464891 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors LAMB2 HGNC ENSG00000172037 tier1 - - 56 0 0.00 18 12 40.00 LAMB4 0 genome.wustl.edu 37 7 107703340 107703340 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 107703340 107703340 G A SNP LAMB4 ENST00000205386 human ensembl 74_37 -1 known missense c.3161 p.P1054L 0.158 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 tier1 - - 34 0 0.00 25 12 32.43 LAMC2 0 genome.wustl.edu 37 1 183196723 183196723 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 183196723 183196723 G A SNP LAMC2 ENST00000264144 human ensembl 74_37 +1 known silent c.1359 p.P453 0.001 smart_EG-like_dom pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin - no_errors LAMC2 HGNC ENSG00000058085 tier1 - - 60 0 0.00 46 15 24.59 LAMC3 0 genome.wustl.edu 37 9 133936593 133936594 + Frame_Shift_Ins INS - - C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 133936593 133936594 - C INS LAMC3 ENST00000361069 human ensembl 74_37 +1 known frame_shift_ins c.2330_2331 p.G781fs 1.000:1.000 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 tier1 47 0 0.00 19 8 29.63 LAMC3 0 genome.wustl.edu 37 9 133946903 133946903 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 133946903 133946903 G T SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known silent c.3102 p.T1034 1.000 NULL pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 tier1 - - 74 0 0.00 44 21 32.31 LARP1 0 genome.wustl.edu 37 5 154173390 154173390 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 154173390 154173390 C - DEL LARP1 ENST00000336314 human ensembl 74_37 +1 known frame_shift_del c.668 p.T226fs 0.999 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 tier1 77 0 0.00 42 19 31.15 LARP6 0 genome.wustl.edu 37 15 71125091 71125091 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 71125091 71125091 G A SNP LARP6 ENST00000299213 human ensembl 74_37 -1 known missense c.776 p.A259V 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd,prints_Lupus_La - no_errors LARP6 HGNC ENSG00000166173 tier1 - - 52 0 0.00 25 9 26.47 LATS1 0 genome.wustl.edu 37 6 149983001 149983001 + Missense_Mutation SNP T T A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 149983001 149983001 T A SNP LATS1 ENST00000253339 human ensembl 74_37 -1 known missense c.3257 p.D1086V 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS1 HGNC ENSG00000131023 tier1 - - 108 0 0.00 78 42 35.00 LBH 0 genome.wustl.edu 37 2 30480657 30480658 + RNA DEL TT TT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 30480657 30480658 TT - DEL LBH ENST00000467242 human ensembl 74_37 +1 known rna NULL NULL 0.930:0.934 - - - no_errors LBH HGNC ENSG00000213626 tier1 39 0 0.00 22 9 29.03 LBR 0 genome.wustl.edu 37 1 225592358 225592358 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 225592358 225592358 G T SNP LBR ENST00000272163 human ensembl 74_37 -1 known silent c.1534 p.R512 1.000 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_DUF1295 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor - no_errors LBR HGNC ENSG00000143815 tier1 - - 42 0 0.00 60 4 6.25 LCN2 0 genome.wustl.edu 37 9 130914272 130914272 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 130914272 130914272 A - DEL LCN2 ENST00000372998 human ensembl 74_37 +1 known frame_shift_del c.449 p.N151fs 0.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_N_gelatinase,prints_PstgldnD_synth,prints_Lipocalin,prints_A1-microglobln - no_errors LCN2 HGNC ENSG00000148346 tier1 23 0 0.00 20 11 35.48 LCNL1 0 genome.wustl.edu 37 9 139879317 139879317 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 139879317 139879317 G T SNP LCNL1 ENST00000408973 human ensembl 74_37 +1 known missense c.349 p.G117W 0.000 superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like - no_errors LCNL1 HGNC ENSG00000214402 tier1 - - 141 0 0.00 99 9 8.33 LEPROTL1 0 genome.wustl.edu 37 8 29961841 29961841 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 29961841 29961841 T - DEL LEPROTL1 ENST00000523116 human ensembl 74_37 +1 known frame_shift_del c.118 p.Y42fs 1.000 pfam_VPS55 pfam_VPS55 - no_errors LEPROTL1 HGNC ENSG00000104660 tier1 80 0 0.00 101 38 27.34 LETMD1 0 genome.wustl.edu 37 12 51445997 51445997 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 51445997 51445997 G A SNP LETMD1 ENST00000418425 human ensembl 74_37 +1 novel missense c.397 p.A133T 0.802 pfam_LETM1 pfam_LETM1 - no_errors LETMD1 HGNC ENSG00000050426 tier1 - - 63 0 0.00 48 31 39.24 LGR6 0 genome.wustl.edu 37 1 202287187 202287187 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 202287187 202287187 G A SNP LGR6 ENST00000367278 human ensembl 74_37 +1 known missense c.1756 p.V586M 0.516 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn - no_errors LGR6 HGNC ENSG00000133067 tier1 rs143028945 - 82 0 0.00 101 25 19.84 LHX4 0 genome.wustl.edu 37 1 180243372 180243372 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 180243372 180243372 G - DEL LHX4 ENST00000263726 human ensembl 74_37 +1 known frame_shift_del c.831 p.D279fs 1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX4 HGNC ENSG00000121454 tier1 59 0 0.00 53 17 24.29 LILRA3 0 genome.wustl.edu 37 19 54802012 54802012 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 54802012 54802012 C T SNP LILRA3 ENST00000251390 human ensembl 74_37 -1 known silent c.1176 p.A392 0.347 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA3 HGNC ENSG00000170866 tier1 rs149110195 - 190 0 0.00 107 70 39.55 LILRA4 0 genome.wustl.edu 37 19 54844919 54844919 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 54844919 54844919 G - DEL LILRA4 ENST00000291759 human ensembl 74_37 -1 known frame_shift_del c.1424 p.P475fs 0.004 pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA4 HGNC ENSG00000239961 tier1 108 0 0.00 57 21 26.92 LILRA4 0 genome.wustl.edu 37 19 54848276 54848276 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 54848276 54848276 G - DEL LILRA4 ENST00000291759 human ensembl 74_37 -1 known frame_shift_del c.1091 p.P364fs 0.001 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA4 HGNC ENSG00000239961 tier1 200 0 0.00 102 62 37.80 LILRB5 0 genome.wustl.edu 37 19 54759311 54759311 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 54759311 54759311 C T SNP LILRB5 ENST00000450632 human ensembl 74_37 -1 known missense c.763 p.V255I 0.001 smart_Ig_sub,smart_Ig_sub2 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB5 HGNC ENSG00000105609 tier1 - - 111 0 0.00 54 42 43.75 LIMCH1 0 genome.wustl.edu 37 4 41634825 41634825 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 41634825 41634825 C T SNP LIMCH1 ENST00000503057 human ensembl 74_37 +1 known missense c.1661 p.P554L 0.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMCH1 HGNC ENSG00000064042 tier1 - - 86 0 0.00 57 38 40.00 LINC00052 0 genome.wustl.edu 37 15 88121520 88121521 + RNA DEL TC TC - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 88121520 88121521 TC - DEL LINC00052 ENST00000560153 human ensembl 74_37 +1 known rna NULL NULL 0.018:0.021 - - - no_errors LINC00052 HGNC ENSG00000259527 tier1 58 0 0.00 27 16 37.21 LINC00461 0 genome.wustl.edu 37 5 87969079 87969079 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 87969079 87969079 A - DEL LINC00461 ENST00000505030 human ensembl 74_37 -1 known rna NULL NULL 0.276 - - - no_errors LINC00461 HGNC ENSG00000245526 tier1 52 0 0.00 42 15 26.32 LINC00477 0 genome.wustl.edu 37 12 24736735 24736735 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 24736735 24736735 A - DEL LINC00477 ENST00000483544 human ensembl 74_37 -1 known rna NULL NULL 0.092 - - - no_errors LINC00477 HGNC ENSG00000197503 tier1 33 0 0.00 15 48 76.19 LINC00488 0 genome.wustl.edu 37 3 108897049 108897049 + RNA DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 108897049 108897049 G - DEL LINC00488 ENST00000494582 human ensembl 74_37 +1 known rna NULL NULL 0.115 - - - no_errors LINC00488 HGNC ENSG00000214381 tier1 71 0 0.00 24 16 40.00 LINC00610 0 genome.wustl.edu 37 11 36293077 36293077 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 36293077 36293077 C T SNP LINC00610 ENST00000355500 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00610 HGNC ENSG00000196559 tier1 - - 44 0 0.00 18 13 41.94 LINC00615 0 genome.wustl.edu 37 12 91340253 91340253 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 91340253 91340253 T - DEL LINC00615 ENST00000546725 human ensembl 74_37 +1 known rna NULL NULL 0.148 - - - no_errors LINC00615 HGNC ENSG00000196243 tier1 23 0 0.00 7 7 50.00 LINC00634 0 genome.wustl.edu 37 22 42354516 42354516 + RNA DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 42354516 42354516 G 0 DEL LINC00634 ENST00000381348 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors LINC00634 HGNC ENSG00000205704 15 0 0.00 5 5 50.00 LINC00862 0 genome.wustl.edu 37 1 200311674 200311674 + RNA DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 200311674 200311674 C - DEL LINC00862 ENST00000367355 human ensembl 74_37 -1 known rna NULL NULL 0.026 - - - no_errors LINC00862 HGNC ENSG00000203721 tier1 19 0 0.00 22 11 33.33 LINC00862 0 genome.wustl.edu 37 1 200311673 200311674 + RNA DEL AC AC - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 200311673 200311674 AC 0 DEL LINC00862 ENST00000367355 human ensembl 74_37 -1 known rna NULL NULL 0.022:0.026 - - - no_errors LINC00862 HGNC ENSG00000203721 19 0 0.00 32 9 21.95 LINC00910 0 genome.wustl.edu 37 17 41465839 41465839 + RNA DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 41465839 41465839 G - DEL LINC00910 ENST00000341011 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00910 HGNC ENSG00000188825 tier1 52 0 0.00 28 15 34.88 LINC00937 0 genome.wustl.edu 37 12 8549046 8549046 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 8549046 8549046 G A SNP LINC00937 ENST00000538304 human ensembl 74_37 -1 known rna NULL NULL 0.428 - - - no_errors LINC00937 HGNC ENSG00000226091 tier1 - - 33 0 0.00 7 42 85.71 LINC00943 0 genome.wustl.edu 37 12 127229809 127229809 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 127229809 127229809 T - DEL LINC00943 ENST00000345111 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors LINC00943 HGNC ENSG00000189238 tier1 37 0 0.00 23 6 20.69 LINC00982 0 genome.wustl.edu 37 1 2979350 2979350 + RNA SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 2979350 2979350 G T SNP LINC00982 ENST00000321399 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00982 HGNC ENSG00000177133 tier1 - - 84 0 0.00 44 44 50.00 LINC00982 0 genome.wustl.edu 37 1 2984123 2984123 + RNA SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 2984123 2984123 G T SNP LINC00982 ENST00000321336 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00982 HGNC ENSG00000177133 tier1 - - 22 0 0.00 4 10 71.43 LIPF 0 genome.wustl.edu 37 10 90429680 90429680 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 90429680 90429680 G T SNP LIPF ENST00000394375 human ensembl 74_37 +1 known missense c.539 p.G180V 1.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPF HGNC ENSG00000182333 tier1 - - 69 0 0.00 84 5 5.56 LIPF 0 genome.wustl.edu 37 10 90438259 90438259 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 90438259 90438259 G T SNP LIPF ENST00000394375 human ensembl 74_37 +1 known missense c.1048 p.G350C 0.860 pfam_AB_hydrolase_1 pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPF HGNC ENSG00000182333 tier1 - - 145 0 0.00 81 44 35.20 LLGL2 0 genome.wustl.edu 37 17 73560612 73560612 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 73560612 73560612 G A SNP LLGL2 ENST00000375227 human ensembl 74_37 +1 known missense c.1060 p.A354T 0.000 NULL pfam_LLGL2,superfamily_WD40_repeat_dom,prints_Lethal2_giant - no_errors LLGL2 HGNC ENSG00000073350 tier1 - - 152 0 0.00 55 36 39.56 LLGL2 0 genome.wustl.edu 37 17 73565329 73565329 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 73565329 73565329 G T SNP LLGL2 ENST00000392550 human ensembl 74_37 +1 known missense c.1504 p.D502Y 1.000 superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL2 HGNC ENSG00000073350 66 0 0.00 56 3 5.08 LMAN1 0 genome.wustl.edu 37 18 57013285 57013285 + Splice_Site DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 57013285 57013285 T - DEL LMAN1 ENST00000251047 human ensembl 74_37 -1 known splice_site_del c.823-2 e8-2 1.000 - - - no_errors LMAN1 HGNC ENSG00000074695 tier1 31 0 0.00 24 12 33.33 LMLN 0 genome.wustl.edu 37 3 197748396 197748396 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 197748396 197748396 C A SNP LMLN ENST00000330198 human ensembl 74_37 +1 known missense c.1445 p.P482H 1.000 pfam_Peptidase_M8 pfam_Peptidase_M8 - no_errors LMLN HGNC ENSG00000185621 tier1 - - 27 0 0.00 25 28 52.83 LMNA 0 genome.wustl.edu 37 1 156106205 156106205 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 156106205 156106205 G A SNP LMNA ENST00000368300 human ensembl 74_37 +1 known missense c.1358 p.R453Q 1.000 pfam_Lamin_tail_dom pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNA HGNC ENSG00000160789 tier1 - - 122 0 0.00 106 7 6.14 LMNB2 0 genome.wustl.edu 37 19 2434830 2434830 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 2434830 2434830 G A SNP LMNB2 ENST00000325327 human ensembl 74_37 -1 known missense c.937 p.R313C 0.942 pfam_IF pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNB2 HGNC ENSG00000176619 tier1 - - 25 0 0.00 13 12 48.00 LOC100128006 0 genome.wustl.edu 37 17 12666295 12666295 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 12666295 12666295 G A SNP LOC100128006 ENST00000584772 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-1090M7.1 Clone_based_vega_gene ENSG00000265489 tier1 - - 11 0 0.00 9 8 47.06 LOC100128374 0 genome.wustl.edu 37 7 1885537 1885537 + RNA SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 1885537 1885537 C A SNP LOC100128374 ENST00000480694 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC110781.3 Clone_based_vega_gene ENSG00000176349 tier1 - - 49 0 0.00 21 17 44.74 LOC100128714 0 genome.wustl.edu 37 15 26147715 26147715 + Splice_Site SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 26147715 26147715 T C SNP LOC100128714 ENST00000383019 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.000 - - - no_errors RP11-1084I9.1 Clone_based_vega_gene ENSG00000206187 tier1 - - 21 0 0.00 10 6 35.29 LOC100129029 0 genome.wustl.edu 37 2 159516742 159516742 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 159516742 159516742 C T SNP LOC100129029 ENST00000342892 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC005042.4 Clone_based_vega_gene ENSG00000204380 tier1 - - 25 0 0.00 19 14 42.42 LOC100129138 0 genome.wustl.edu 37 1 104615648 104615648 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 104615648 104615648 C T SNP LOC100129138 ENST00000418362 human ensembl 74_37 +1 known rna NULL NULL 0.975 - - - no_errors RP11-364B6.1 Clone_based_vega_gene ENSG00000215869 tier1 - - 8 0 0.00 11 4 26.67 LOC100130331 0 genome.wustl.edu 37 1 238090646 238090646 + RNA SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 238090646 238090646 C A SNP LOC100130331 ENST00000450451 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-193H5.1 Clone_based_vega_gene ENSG00000237250 tier1 - - 48 0 0.00 20 10 33.33 LOC100131825 0 genome.wustl.edu 37 1 159166613 159166613 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 159166613 159166613 T - DEL LOC100131825 ENST00000415675 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTA-134P22.2 Clone_based_vega_gene ENSG00000225670 tier1 23 0 0.00 11 9 45.00 LOC100134368 0 genome.wustl.edu 37 16 436712 436714 + RNA DEL AAA AAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 436712 436714 AAA - DEL LOC100134368 ENST00000457760 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001:0.000 - - - no_errors Z97634.3 Clone_based_vega_gene ENSG00000236829 tier1 10 0 0.00 7 4 36.36 LOC100288175 0 genome.wustl.edu 37 1 998558 998558 + RNA DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 998558 998558 G - DEL LOC100288175 ENST00000394517 human ensembl 74_37 +1 known rna NULL NULL 0.500 - - - no_errors RP11-465B22.3 Clone_based_vega_gene ENSG00000217801 tier1 91 0 0.00 43 28 39.44 LOC100289283 0 genome.wustl.edu 37 16 29821984 29821986 + RNA DEL TTT TTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 29821984 29821986 TTT - DEL LOC100289283 ENST00000569981 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.004:0.969 - - - no_errors AC009133.14 Clone_based_vega_gene ENSG00000238045 tier1 49 0 0.00 22 10 31.25 LOC100294362 0 genome.wustl.edu 37 17 78326965 78326965 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 78326965 78326965 G A SNP LOC100294362 ENST00000575034 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2047H16.4 Clone_based_vega_gene ENSG00000263069 tier1 - - 38 0 0.00 23 13 36.11 LOC100506060 0 genome.wustl.edu 37 16 70253647 70253647 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 70253647 70253647 G A SNP LOC100506060 ENST00000573141 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-296I10.6 Clone_based_vega_gene ENSG00000261556 tier1 - - 24 0 0.00 54 16 22.86 LOC100506710 0 genome.wustl.edu 37 9 37080331 37080331 + RNA SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 37080331 37080331 C A SNP LOC100506710 ENST00000429493 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-220I1.1 Clone_based_vega_gene ENSG00000233137 tier1 - - 85 0 0.00 41 17 29.31 LOC100631378 0 genome.wustl.edu 37 19 38324095 38324095 + RNA SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 38324095 38324095 G T SNP LOC100631378 ENST00000433142 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC016582.2 Clone_based_vega_gene ENSG00000225868 46 0 0.00 43 3 6.52 LOC101927051 0 genome.wustl.edu 37 22 38038868 38038868 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 38038868 38038868 G A SNP LOC101927051 ENST00000456099 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors Z83844.1 Clone_based_vega_gene ENSG00000233360 tier1 - - 69 0 0.00 37 25 40.32 LOC101927188 0 genome.wustl.edu 37 18 6956263 6956265 + RNA DEL TTT TTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 6956263 6956265 TTT - DEL LOC101927188 ENST00000584722 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001:0.000 - - - no_errors RP11-781P6.1 Clone_based_vega_gene ENSG00000265069 tier1 13 0 0.00 5 4 44.44 LOC101927599 0 genome.wustl.edu 37 19 37068397 37068399 + RNA DEL TTT TTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 37068397 37068399 TTT - DEL LOC101927599 ENST00000448373 human ensembl 74_37 +1 known rna NULL NULL 0.124:0.125:0.126 - - - no_errors AC092295.7 Clone_based_vega_gene ENSG00000233527 tier1 32 0 0.00 17 2 10.53 LOC101928780 0 genome.wustl.edu 37 19 54628061 54628061 + RNA DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 54628061 54628061 C - DEL LOC101928780 ENST00000452097 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC012314.8 Clone_based_vega_gene ENSG00000237017 tier1 88 0 0.00 44 22 33.33 LOC101928781 0 genome.wustl.edu 37 10 63212571 63212571 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 63212571 63212571 G A SNP LOC101928781 ENST00000389640 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-809M12.1 Clone_based_vega_gene ENSG00000237233 tier1 - - 18 0 0.00 20 8 28.57 LOC101928930 0 genome.wustl.edu 37 12 54474095 54474095 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 54474095 54474095 C T SNP LOC101928930 ENST00000505259 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-834C11.7 Clone_based_vega_gene ENSG00000250654 tier1 - - 34 0 0.00 16 12 41.38 LOC101929290 0 genome.wustl.edu 37 8 11177526 11177529 + RNA DEL TTTT TTTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTTT TTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 11177526 11177529 TTTT - DEL LOC101929290 ENST00000498997 human ensembl 74_37 -1 known rna NULL NULL 0.005:0.001:0.000:0.000 - - - no_errors AF131216.6 Clone_based_vega_gene ENSG00000246477 tier1 22 0 0.00 28 9 24.32 LOC101929438 0 genome.wustl.edu 37 1 144520891 144520891 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 144520891 144520891 C T SNP LOC101929438 ENST00000411760 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-640M9.1 Clone_based_vega_gene ENSG00000236943 tier1 - - 75 0 0.00 10 49 83.05 LOC101929948 0 genome.wustl.edu 37 14 19563232 19563232 + RNA SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 19563232 19563232 T C SNP LOC101929948 ENST00000548748 human ensembl 74_37 -1 known rna NULL NULL 0.050 - - - no_errors CTD-2311B13.5 Clone_based_vega_gene ENSG00000258252 tier1 - - 43 0 0.00 38 47 55.29 LOC283335 0 genome.wustl.edu 37 12 53447261 53447261 + RNA SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 53447261 53447261 A G SNP LOC283335 ENST00000546793 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-983P16.4 Clone_based_vega_gene ENSG00000257337 tier1 - - 41 0 0.00 14 9 39.13 LOC283683 0 genome.wustl.edu 37 15 23108668 23108668 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 23108668 23108668 A - DEL LOC283683 ENST00000561063 human ensembl 74_37 -1 known rna NULL NULL 0.058 - - - no_errors RP11-566K19.6 Clone_based_vega_gene ENSG00000259344 tier1 84 0 0.00 45 23 33.82 LOC285556 0 genome.wustl.edu 37 4 100573085 100573085 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 100573085 100573085 G A SNP LOC285556 ENST00000511828 human ensembl 74_37 -1 putative silent c.2721 p.N907 0.000 NULL NULL - no_errors RP11-766F14.2 Clone_based_vega_gene ENSG00000248713 tier1 - - 27 0 0.00 10 12 54.55 LOC388906 0 genome.wustl.edu 37 22 42670108 42670108 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 42670108 42670108 C T SNP LOC388906 ENST00000332965 human ensembl 74_37 +1 known rna NULL NULL 0.015 - - - no_errors Z83851.3 Clone_based_vega_gene ENSG00000182057 tier1 - - 56 0 0.00 38 23 37.70 LOC400553 0 genome.wustl.edu 37 16 88123704 88123704 + RNA DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 88123704 88123704 C - DEL LOC400553 ENST00000378417 human ensembl 74_37 -1 known rna NULL NULL 0.233 - - - no_errors RP11-863P13.4 Clone_based_vega_gene ENSG00000205037 tier1 50 0 0.00 24 7 22.58 LOC401127 0 genome.wustl.edu 37 4 39482010 39482010 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 39482010 39482010 C T SNP LOC401127 ENST00000513652 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-472B18.1 Clone_based_vega_gene ENSG00000224097 tier1 - - 24 0 0.00 16 5 23.81 LOC652276 0 genome.wustl.edu 37 16 2653650 2653650 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 2653650 2653650 G A SNP LOC652276 ENST00000399702 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AC141586.5 Clone_based_vega_gene ENSG00000215154 tier1 - - 98 0 0.00 44 26 37.14 LOC653712 0 genome.wustl.edu 37 3 128584401 128584401 + RNA SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 128584401 128584401 A G SNP LOC653712 ENST00000480931 human ensembl 74_37 -1 known rna NULL NULL 0.168 - - - no_errors RP11-723O4.2 Clone_based_vega_gene ENSG00000231305 tier1 - - 31 0 0.00 24 14 36.84 LOC728715 0 genome.wustl.edu 37 12 9727638 9727638 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 9727638 9727638 G A SNP LOC728715 ENST00000520314 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors RP11-726G1.1 Clone_based_vega_gene ENSG00000214776 40 0 0.00 65 8 10.96 LOC729224 0 genome.wustl.edu 37 2 202979799 202979800 + RNA INS - - T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 202979799 202979800 - T INS LOC729224 ENST00000409819 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors AC079354.3 Clone_based_vega_gene ENSG00000222035 tier1 27 0 0.00 18 10 35.71 LOXHD1 0 genome.wustl.edu 37 18 44140248 44140248 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 44140248 44140248 C A SNP LOXHD1 ENST00000536736 human ensembl 74_37 -1 known missense c.2859 p.E953D 0.007 NULL pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom - no_errors LOXHD1 HGNC ENSG00000167210 tier1 - - 30 0 0.00 21 19 47.50 LOXL2 0 genome.wustl.edu 37 8 23225572 23225572 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 23225572 23225572 C T SNP LOXL2 ENST00000389131 human ensembl 74_37 -1 known missense c.293 p.R98Q 1.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL2 HGNC ENSG00000134013 tier1 rs138761125 - 41 0 0.00 30 12 28.57 LPAL2 0 genome.wustl.edu 37 6 160887595 160887595 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 160887595 160887595 T - DEL LPAL2 ENST00000606083 human ensembl 74_37 -1 known rna NULL NULL 0.621 - - - no_errors LPAL2 HGNC ENSG00000213071 tier1 13 0 0.00 5 6 54.55 LPAR1 0 genome.wustl.edu 37 9 113704388 113704388 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 113704388 113704388 G T SNP LPAR1 ENST00000538760 human ensembl 74_37 -1 known silent c.109 p.R37 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG2,prints_LPA_rcpt,prints_GPCR_Rhodpsn - no_errors LPAR1 HGNC ENSG00000198121 tier1 - - 48 0 0.00 17 13 43.33 LPHN3 0 genome.wustl.edu 37 4 62812670 62812670 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 62812670 62812670 G T SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known missense c.2458 p.G820C 1.000 pfam_DUF3497 pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 tier1 - - 129 0 0.00 110 9 7.56 LPIN3 0 genome.wustl.edu 37 20 39977440 39977440 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 39977440 39977440 T C SNP LPIN3 ENST00000373257 human ensembl 74_37 +1 known missense c.470 p.V157A 0.004 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN3 HGNC ENSG00000132793 tier1 - - 28 0 0.00 15 10 40.00 LRAT 0 genome.wustl.edu 37 4 155665742 155665742 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 155665742 155665742 G A SNP LRAT ENST00000336356 human ensembl 74_37 +1 known silent c.264 p.T88 0.090 NULL pfam_LRAT-like_dom - no_errors LRAT HGNC ENSG00000121207 tier1 - - 25 0 0.00 7 11 57.89 LRBA 0 genome.wustl.edu 37 4 151765309 151765309 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 151765309 151765309 G T SNP LRBA ENST00000357115 human ensembl 74_37 -1 known missense c.4512 p.D1504E 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 tier1 - - 60 0 0.00 65 4 5.80 LRG1 0 genome.wustl.edu 37 19 4538425 4538425 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 4538425 4538425 G A SNP LRG1 ENST00000306390 human ensembl 74_37 -1 known missense c.571 p.R191C 0.885 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRG1 HGNC ENSG00000171236 tier1 - - 59 0 0.00 27 27 50.00 LRIG2 0 genome.wustl.edu 37 1 113661870 113661870 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 113661870 113661870 G A SNP LRIG2 ENST00000361127 human ensembl 74_37 +1 known missense c.2696 p.R899Q 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG2 HGNC ENSG00000198799 tier1 - - 56 0 0.00 38 23 37.70 LRIT2 0 genome.wustl.edu 37 10 85984820 85984820 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 85984820 85984820 G T SNP LRIT2 ENST00000538192 human ensembl 74_37 -1 known missense c.161 p.S54Y 0.723 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIT2 HGNC ENSG00000204033 tier1 - - 27 0 0.00 32 4 11.11 LRP1 0 genome.wustl.edu 37 12 57605984 57605984 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 57605984 57605984 C T SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known silent c.13434 p.G4478 0.845 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 tier1 - - 15 0 0.00 10 8 44.44 LRP10 0 genome.wustl.edu 37 14 23346171 23346171 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 23346171 23346171 G A SNP LRP10 ENST00000359591 human ensembl 74_37 +1 known missense c.1577 p.R526H 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP10 HGNC ENSG00000197324 tier1 - - 63 0 0.00 29 18 38.30 LRP12 0 genome.wustl.edu 37 8 105501486 105501487 + RNA INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 105501486 105501487 - A INS LRP12 ENST00000518375 human ensembl 74_37 -1 putative rna NULL NULL 1.000:1.000 - - - no_errors LRP12 HGNC ENSG00000147650 tier1 22 0 0.00 36 7 16.28 LRP12 0 genome.wustl.edu 37 8 105502452 105502452 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 105502452 105502452 T - DEL LRP12 ENST00000518375 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors LRP12 HGNC ENSG00000147650 tier1 39 0 0.00 23 55 70.51 LRP12 0 genome.wustl.edu 37 8 105509429 105509429 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 105509429 105509429 A - DEL LRP12 ENST00000424843 human ensembl 74_37 -1 known frame_shift_del c.1294 p.C432fs 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 tier1 90 0 0.00 56 53 48.62 LRP1B 0 genome.wustl.edu 37 2 141201960 141201960 + Silent SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 141201960 141201960 T C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.10233 p.P3411 0.010 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 64 0 0.00 51 26 33.77 LRP1B 0 genome.wustl.edu 37 2 141259309 141259309 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 141259309 141259309 T C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.8797 p.K2933E 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 57 0 0.00 29 19 39.58 LRP1B 0 genome.wustl.edu 37 2 141946015 141946015 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 141946015 141946015 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.988 p.A330T 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 21 0 0.00 12 14 53.85 LRRC16B 0 genome.wustl.edu 37 14 24529193 24529193 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 24529193 24529193 G T SNP LRRC16B ENST00000342740 human ensembl 74_37 +1 known missense c.1883 p.R628L 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 tier1 - - 73 0 0.00 22 13 37.14 LRRC24 0 genome.wustl.edu 37 8 145748682 145748682 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 145748682 145748682 G - DEL LRRC24 ENST00000529415 human ensembl 74_37 -1 known frame_shift_del c.719 p.P240fs 0.998 smart_Cys-rich_flank_reg_C pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC24 HGNC ENSG00000254402 tier1 56 0 0.00 68 25 26.88 LRRC37A2 0 genome.wustl.edu 37 17 44632696 44632696 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 44632696 44632696 T C SNP LRRC37A2 ENST00000333412 human ensembl 74_37 +1 known missense c.4960 p.Y1654H 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A2 HGNC ENSG00000238083 tier1 - - 61 0 0.00 11 53 81.54 LRRC37A3 0 genome.wustl.edu 37 17 62855814 62855814 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 62855814 62855814 C T SNP LRRC37A3 ENST00000319651 human ensembl 74_37 -1 known missense c.4450 p.V1484I 0.100 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 tier1 - - 157 0 0.00 118 59 33.33 LRRC37A7P 0 genome.wustl.edu 37 18 29304406 29304406 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 29304406 29304406 G A SNP LRRC37A7P ENST00000583900 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors LRRC37A7P HGNC ENSG00000265158 tier1 - - 23 0 0.00 10 10 50.00 LRRC37B 0 genome.wustl.edu 37 17 30348815 30348815 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 30348815 30348815 G A SNP LRRC37B ENST00000341671 human ensembl 74_37 +1 known missense c.650 p.R217H 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37B HGNC ENSG00000185158 tier1 rs145638325 - 34 0 0.00 19 25 56.82 LRRC48 0 genome.wustl.edu 37 17 17891352 17891352 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 17891352 17891352 C T SNP LRRC48 ENST00000313838 human ensembl 74_37 +1 known silent c.384 p.D128 0.014 NULL NULL - no_errors LRRC48 HGNC ENSG00000171962 tier1 - - 34 0 0.00 12 17 58.62 LRRC6 0 genome.wustl.edu 37 8 133637520 133637520 + Missense_Mutation SNP T T A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 133637520 133637520 T A SNP LRRC6 ENST00000250173 human ensembl 74_37 -1 known missense c.834 p.L278F 0.995 NULL superfamily_HSP20-like_chaperone,smart_U2A'_phosphoprotein32A_C,pfscan_CS_dom - no_errors LRRC6 HGNC ENSG00000129295 tier1 - - 112 0 0.00 97 44 31.21 LRRC6 0 genome.wustl.edu 37 8 133637521 133637521 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 133637521 133637521 A G SNP LRRC6 ENST00000250173 human ensembl 74_37 -1 known missense c.833 p.L278S 0.988 NULL superfamily_HSP20-like_chaperone,smart_U2A'_phosphoprotein32A_C,pfscan_CS_dom - no_errors LRRC6 HGNC ENSG00000129295 tier1 - - 112 0 0.00 97 44 31.21 LRRC6 0 genome.wustl.edu 37 8 133687535 133687535 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 133687535 133687535 C T SNP LRRC6 ENST00000521430 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LRRC6 HGNC ENSG00000129295 tier1 - - 16 0 0.00 14 4 22.22 LRRC66 0 genome.wustl.edu 37 4 52860637 52860637 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 52860637 52860637 C T SNP LRRC66 ENST00000343457 human ensembl 74_37 -1 known missense c.2551 p.V851I 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC66 HGNC ENSG00000188993 tier1 - - 85 0 0.00 57 23 28.75 LRRC8D 0 genome.wustl.edu 37 1 90399253 90399253 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 90399253 90399253 C T SNP LRRC8D ENST00000337338 human ensembl 74_37 +1 known missense c.626 p.T209M 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8D HGNC ENSG00000171492 tier1 - - 37 0 0.00 22 8 26.67 LRRIQ3 0 genome.wustl.edu 37 1 74549888 74549889 + Frame_Shift_Ins INS - - T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 74549888 74549889 - T INS LRRIQ3 ENST00000415760 human ensembl 74_37 -1 known frame_shift_ins c.880_879 p.L293fs 0.998:0.995 NULL pfam_Leu-rich_rpt,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 tier1 22 0 0.00 30 11 26.83 LRRK1 0 genome.wustl.edu 37 15 101566237 101566237 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 101566237 101566237 G A SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known missense c.2300 p.R767H 1.000 pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors LRRK1 HGNC ENSG00000154237 tier1 - - 111 0 0.00 68 28 29.17 LRRK1 0 genome.wustl.edu 37 15 101593468 101593468 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 101593468 101593468 G T SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known missense c.3897 p.K1299N 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors LRRK1 HGNC ENSG00000154237 tier1 - - 70 0 0.00 42 4 8.70 LRRK2 0 genome.wustl.edu 37 12 40702287 40702287 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 40702287 40702287 A - DEL LRRK2 ENST00000298910 human ensembl 74_37 +1 known frame_shift_del c.3978 p.K1328fs 0.982 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 tier1 35 0 0.00 27 17 38.64 LRTM1 0 genome.wustl.edu 37 3 54958868 54958868 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 54958868 54958868 C A SNP LRTM1 ENST00000273286 human ensembl 74_37 -1 known missense c.382 p.D128Y 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM1 HGNC ENSG00000144771 tier1 - - 54 0 0.00 18 16 47.06 LTBP2 0 genome.wustl.edu 37 14 74995695 74995695 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 74995695 74995695 G A SNP LTBP2 ENST00000261978 human ensembl 74_37 -1 known silent c.2118 p.G706 0.176 pfam_TB_dom,superfamily_TB_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 tier1 - - 68 0 0.00 31 19 38.00 LTBP3 0 genome.wustl.edu 37 11 65315233 65315233 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 65315233 65315233 C T SNP LTBP3 ENST00000301873 human ensembl 74_37 -1 known missense c.1906 p.G636S 0.319 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP3 HGNC ENSG00000168056 tier1 - - 62 0 0.00 30 15 33.33 LTN1 0 genome.wustl.edu 37 21 30339206 30339207 + Frame_Shift_Del DEL TT TT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 30339206 30339207 TT - DEL LTN1 ENST00000389194 human ensembl 74_37 -1 known frame_shift_del c.1745_1744 p.N582fs 0.000:0.034 superfamily_ARM-type_fold pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 tier1 61 0 0.00 38 26 40.62 LY6G6E 0 genome.wustl.edu 37 6 31680129 31680129 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 31680129 31680129 G T SNP LY6G6E ENST00000383418 human ensembl 74_37 -1 known missense c.367 p.L123I 0.000 NULL NULL - no_errors LY6G6E HGNC ENSG00000255552 tier1 - - 29 0 0.00 18 3 14.29 LYAR 0 genome.wustl.edu 37 4 4285408 4285408 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 4285408 4285408 T C SNP LYAR ENST00000343470 human ensembl 74_37 -1 known missense c.62 p.H21R 0.997 NULL pfam_Znf_C2H2_LYAR - no_errors LYAR HGNC ENSG00000145220 tier1 - - 65 0 0.00 48 22 31.43 LYN 0 genome.wustl.edu 37 8 56864612 56864612 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 56864612 56864612 G A SNP LYN ENST00000519728 human ensembl 74_37 +1 known missense c.575 p.G192D 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors LYN HGNC ENSG00000254087 tier1 - - 64 0 0.00 70 17 19.54 LYPLAL1 0 genome.wustl.edu 37 1 219366651 219366651 + RNA SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 219366651 219366651 T C SNP LYPLAL1 ENST00000496776 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LYPLAL1 HGNC ENSG00000143353 tier1 - - 20 0 0.00 24 10 29.41 LYST 0 genome.wustl.edu 37 1 235897834 235897834 + Nonsense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 235897834 235897834 G T SNP LYST ENST00000389793 human ensembl 74_37 -1 known nonsense c.8484 p.C2828* 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 tier1 - - 66 0 0.00 65 4 5.80 LYST 0 genome.wustl.edu 37 1 235914600 235914600 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 235914600 235914600 C T SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.7690 p.A2564T 0.993 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 tier1 - - 64 0 0.00 30 26 46.43 LZTR1 0 genome.wustl.edu 37 22 21345976 21345976 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 21345976 21345976 G A SNP LZTR1 ENST00000215739 human ensembl 74_37 +1 known missense c.851 p.R284H 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1 pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC ENSG00000099949 tier1 - - 42 0 0.00 18 17 48.57 LZTS1 0 genome.wustl.edu 37 8 20110344 20110344 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 20110344 20110344 G A SNP LZTS1 ENST00000265801 human ensembl 74_37 -1 known silent c.1098 p.Y366 0.838 NULL NULL - no_errors LZTS1 HGNC ENSG00000061337 tier1 - - 23 0 0.00 24 7 22.58 MACC1 0 genome.wustl.edu 37 7 20199466 20199466 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 20199466 20199466 T - DEL MACC1 ENST00000332878 human ensembl 74_37 -1 known frame_shift_del c.518 p.N173fs 1.000 NULL pfam_SH3_2,superfamily_DEATH-like_dom - no_errors MACC1 HGNC ENSG00000183742 tier1 17 0 0.00 15 8 34.78 MACF1 0 genome.wustl.edu 37 1 39951743 39951746 + RNA DEL AAAA AAAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 39951743 39951746 AAAA - DEL MACF1 ENST00000496360 human ensembl 74_37 +1 known rna NULL NULL 0.084:0.001:0.001:0.000 - - - no_errors MACF1 HGNC ENSG00000127603 tier1 37 0 0.00 35 19 35.19 MAD2L1 0 genome.wustl.edu 37 4 120982060 120982060 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 120982060 120982060 C T SNP MAD2L1 ENST00000296509 human ensembl 74_37 -1 known silent c.414 p.T138 0.012 pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd - no_errors MAD2L1 HGNC ENSG00000164109 tier1 - - 51 0 0.00 38 22 36.67 MADCAM1 0 genome.wustl.edu 37 19 498664 498666 + In_Frame_Del DEL AGG AGG - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 498664 498666 AGG - DEL MADCAM1 ENST00000215637 human ensembl 74_37 +1 known in_frame_del c.506_508 p.E173in_frame_del 0.029:0.036:0.046 pfam_Adhes-Ig-like pfam_Adhes-Ig-like,smart_Ig_sub,pfscan_Ig-like_dom - no_errors MADCAM1 HGNC ENSG00000099866 tier1 29 0 0.00 24 3 11.11 MADD 0 genome.wustl.edu 37 11 47310955 47310955 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 47310955 47310955 G A SNP MADD ENST00000311027 human ensembl 74_37 +1 known silent c.2727 p.A909 0.955 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 tier1 - - 66 0 0.00 36 21 36.84 MAFK 0 genome.wustl.edu 37 7 1579726 1579726 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 1579726 1579726 C T SNP MAFK ENST00000343242 human ensembl 74_37 +1 known silent c.186 p.R62 0.006 pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors MAFK HGNC ENSG00000198517 tier1 - - 85 0 0.00 38 12 24.00 MAGEA10 0 genome.wustl.edu 37 X 151303084 151303084 + Nonsense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 151303084 151303084 C A SNP MAGEA10 ENST00000244096 human ensembl 74_37 -1 known nonsense c.1009 p.E337* 0.002 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA10 HGNC ENSG00000124260 26 0 0.00 27 3 10.00 MAGEC1 0 genome.wustl.edu 37 X 140994824 140994824 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 140994824 140994824 C A SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.1634 p.P545H 0.001 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 - - 43 0 0.00 9 23 71.88 MAGI2 0 genome.wustl.edu 37 7 77797325 77797325 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 77797325 77797325 C T SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known missense c.2504 p.G835D 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 123 0 0.00 79 5 5.95 MAMDC4 0 genome.wustl.edu 37 9 139753253 139753253 + Silent SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 139753253 139753253 C A SNP MAMDC4 ENST00000445819 human ensembl 74_37 +1 known silent c.3141 p.T1047 0.001 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt - no_errors MAMDC4 HGNC ENSG00000177943 tier1 - - 10 0 0.00 6 6 50.00 MAML3 0 genome.wustl.edu 37 4 140810429 140810429 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 140810429 140810429 G T SNP MAML3 ENST00000398940 human ensembl 74_37 -1 known silent c.741 p.S247 0.000 NULL NULL - no_errors MAML3 HGNC ENSG00000196782 tier1 - - 52 0 0.00 62 4 5.97 MAMLD1 0 genome.wustl.edu 37 X 149638719 149638719 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 149638719 149638719 G A SNP MAMLD1 ENST00000432680 human ensembl 74_37 +1 known missense c.799 p.A267T 0.000 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 tier1 - - 8 0 0.00 2 9 81.82 MAN1A2 0 genome.wustl.edu 37 1 118065513 118065513 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 118065513 118065513 G T SNP MAN1A2 ENST00000356554 human ensembl 74_37 +1 known missense c.1860 p.E620D 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1A2 HGNC ENSG00000198162 tier1 - - 76 0 0.00 69 6 8.00 MAP1B 0 genome.wustl.edu 37 5 71494172 71494172 + Nonsense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 71494172 71494172 C T SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known nonsense c.4990 p.R1664* 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 29 0 0.00 14 3 17.65 MAP2K7 0 genome.wustl.edu 37 19 7975078 7975078 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 7975078 7975078 C T SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known missense c.397 p.R133C 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP2K7 HGNC ENSG00000076984 tier1 - - 24 0 0.00 15 5 25.00 MAP3K1 0 genome.wustl.edu 37 5 56177848 56177849 + In_Frame_Ins INS - - CAA TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 56177848 56177849 - CAA INS MAP3K1 ENST00000399503 human ensembl 74_37 +1 novel in_frame_ins c.2821_2822 p.945in_frame_insT 0.964:0.958 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom - no_errors MAP3K1 HGNC ENSG00000095015 tier1 25 0 0.00 25 6 19.35 MAP3K5 0 genome.wustl.edu 37 6 136972139 136972139 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 136972139 136972139 C T SNP MAP3K5 ENST00000359015 human ensembl 74_37 -1 known missense c.1771 p.V591M 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 tier1 - - 69 0 0.00 26 16 38.10 MAP3K5 0 genome.wustl.edu 37 6 137019800 137019800 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 137019800 137019800 G T SNP MAP3K5 ENST00000359015 human ensembl 74_37 -1 known silent c.633 p.T211 0.750 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 tier1 - - 37 0 0.00 21 13 38.24 MAP3K5 0 genome.wustl.edu 37 6 137113057 137113057 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 137113057 137113057 C T SNP MAP3K5 ENST00000359015 human ensembl 74_37 -1 known missense c.239 p.R80Q 0.986 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 tier1 - - 63 0 0.00 33 26 43.33 MAP3K5 0 genome.wustl.edu 37 6 137018373 137018373 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 137018373 137018373 G T SNP MAP3K5 ENST00000359015 human ensembl 74_37 -1 known missense c.959 p.S320Y 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 25 0 0.00 12 2 14.29 MAP3K6 0 genome.wustl.edu 37 1 27684951 27684951 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 27684951 27684951 C T SNP MAP3K6 ENST00000357582 human ensembl 74_37 -1 known missense c.2735 p.S912N 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K6 HGNC ENSG00000142733 tier1 - - 40 0 0.00 20 14 41.18 MAP3K7 0 genome.wustl.edu 37 6 91246115 91246115 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 91246115 91246115 C T SNP MAP3K7 ENST00000369329 human ensembl 74_37 -1 known missense c.1297 p.G433R 1.000 pirsf_MAPKKK7 pirsf_MAPKKK7,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K7 HGNC ENSG00000135341 tier1 - - 22 0 0.00 10 14 58.33 MAP4K5 0 genome.wustl.edu 37 14 50886759 50886759 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 50886759 50886759 G T SNP MAP4K5 ENST00000013125 human ensembl 74_37 -1 known missense c.2519 p.A840D 1.000 NULL pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K5 HGNC ENSG00000012983 tier1 - - 46 0 0.00 73 4 5.19 MAPK8IP3 0 genome.wustl.edu 37 16 1798334 1798334 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 1798334 1798334 C T SNP MAPK8IP3 ENST00000250894 human ensembl 74_37 +1 known missense c.1081 p.R361C 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC ENSG00000138834 tier1 - - 43 0 0.00 19 14 42.42 MAPK8IP3 0 genome.wustl.edu 37 16 1818241 1818241 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 1818241 1818241 G - DEL MAPK8IP3 ENST00000250894 human ensembl 74_37 +1 known frame_shift_del c.3601 p.G1202fs 0.844 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC ENSG00000138834 tier1 65 0 0.00 33 12 26.67 MAPKAP1 0 genome.wustl.edu 37 9 128327728 128327728 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 128327728 128327728 T - DEL MAPKAP1 ENST00000448439 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors MAPKAP1 HGNC ENSG00000119487 tier1 9 0 0.00 4 7 63.64 MAPKAP1 0 genome.wustl.edu 37 9 128347905 128347905 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 128347905 128347905 G A SNP MAPKAP1 ENST00000265960 human ensembl 74_37 -1 known silent c.600 p.S200 0.918 pfam_SIN1 pfam_SIN1 - no_errors MAPKAP1 HGNC ENSG00000119487 tier1 - - 108 0 0.00 53 42 43.75 MAPKAPK2 0 genome.wustl.edu 37 1 206904645 206904646 + RNA DEL GT GT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 206904645 206904646 GT - DEL MAPKAPK2 ENST00000479009 human ensembl 74_37 +1 putative rna NULL NULL 0.000:0.000 - - - no_errors MAPKAPK2 HGNC ENSG00000162889 tier1 18 0 0.00 20 6 23.08 MAPKBP1 0 genome.wustl.edu 37 15 42105843 42105843 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 42105843 42105843 G A SNP MAPKBP1 ENST00000456763 human ensembl 74_37 +1 known missense c.862 p.V288M 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MAPKBP1 HGNC ENSG00000137802 tier1 - - 72 0 0.00 36 20 35.71 MAPKBP1 0 genome.wustl.edu 37 15 42115240 42115240 + Nonsense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 42115240 42115240 G T SNP MAPKBP1 ENST00000456763 human ensembl 74_37 +1 known nonsense c.3436 p.G1146* 0.985 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MAPKBP1 HGNC ENSG00000137802 tier1 - - 53 0 0.00 36 4 10.00 MAPRE3 0 genome.wustl.edu 37 2 27248516 27248517 + Frame_Shift_Ins INS - - C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 27248516 27248517 - C INS MAPRE3 ENST00000233121 human ensembl 74_37 +1 known frame_shift_ins c.535_536 p.C182fs 0.999:1.000 NULL pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,superfamily_EB1_C,pfscan_CH-domain - no_errors MAPRE3 HGNC ENSG00000084764 tier1 40 0 0.00 30 14 31.82 MARK1 0 genome.wustl.edu 37 1 220825486 220825486 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 220825486 220825486 G T SNP MARK1 ENST00000366917 human ensembl 74_37 +1 known missense c.1730 p.R577L 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors MARK1 HGNC ENSG00000116141 tier1 - - 64 0 0.00 86 6 6.52 MARK2 0 genome.wustl.edu 37 11 63665754 63665754 + Splice_Site SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 63665754 63665754 T C SNP MARK2 ENST00000402010 human ensembl 74_37 +1 known splice_site c.337+2 e4+2 1.000 - - - no_errors MARK2 HGNC ENSG00000072518 tier1 - - 54 0 0.00 20 16 44.44 MARK4 0 genome.wustl.edu 37 19 45790780 45790780 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 45790780 45790780 G A SNP MARK4 ENST00000262891 human ensembl 74_37 +1 known missense c.1352 p.R451Q 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors MARK4 HGNC ENSG00000007047 tier1 - - 47 0 0.00 21 15 41.67 MARS 0 genome.wustl.edu 37 12 57894297 57894297 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 57894297 57894297 G A SNP MARS ENST00000262027 human ensembl 74_37 +1 known missense c.1285 p.E429K 1.000 pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Met-tRNA_synth pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS HGNC ENSG00000166986 tier1 - - 41 0 0.00 26 14 35.00 MARS2 0 genome.wustl.edu 37 2 198571219 198571219 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 198571219 198571219 C T SNP MARS2 ENST00000282276 human ensembl 74_37 +1 known missense c.1090 p.R364C 0.345 pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,pfam_Cys-tRNA/MSH_ligase,tigrfam_Met-tRNA_synth pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS2 HGNC ENSG00000247626 tier1 - - 130 0 0.00 61 30 32.97 MAST2 0 genome.wustl.edu 37 1 46496366 46496366 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 46496366 46496366 G T SNP MAST2 ENST00000361297 human ensembl 74_37 +1 known missense c.2641 p.D881Y 1.000 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST2 HGNC ENSG00000086015 66 0 0.00 62 4 6.06 MASTL 0 genome.wustl.edu 37 10 27459056 27459056 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 27459056 27459056 A - DEL MASTL ENST00000375940 human ensembl 74_37 +1 known frame_shift_del c.1168 p.K391fs 0.077 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MASTL HGNC ENSG00000120539 tier1 36 0 0.00 14 5 26.32 MBD5 0 genome.wustl.edu 37 2 149221353 149221353 + Nonsense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 149221353 149221353 G T SNP MBD5 ENST00000407073 human ensembl 74_37 +1 known nonsense c.262 p.E88* 1.000 smart_Methyl_CpG_DNA-bd superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom - no_errors MBD5 HGNC ENSG00000204406 18 0 0.00 30 4 11.76 MBL1P 0 genome.wustl.edu 37 10 81680652 81680652 + RNA SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 81680652 81680652 G T SNP MBL1P ENST00000480805 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MBL1P HGNC ENSG00000242600 61 0 0.00 52 9 14.75 MBL1P 0 genome.wustl.edu 37 10 81680656 81680656 + RNA SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 81680656 81680656 A G SNP MBL1P ENST00000480805 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MBL1P HGNC ENSG00000242600 61 0 0.00 16 10 15.38 MBOAT1 0 genome.wustl.edu 37 6 20152936 20152936 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 20152936 20152936 C T SNP MBOAT1 ENST00000324607 human ensembl 74_37 -1 known missense c.164 p.R55H 0.742 NULL pfam_MBOAT_fam - no_errors MBOAT1 HGNC ENSG00000172197 tier1 - - 48 0 0.00 22 14 38.89 MBTPS1 0 genome.wustl.edu 37 16 84108235 84108235 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 84108235 84108235 G A SNP MBTPS1 ENST00000343411 human ensembl 74_37 -1 known silent c.1560 p.N520 0.979 NULL pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors MBTPS1 HGNC ENSG00000140943 tier1 - - 61 0 0.00 26 30 53.57 MBTPS1 0 genome.wustl.edu 37 16 84127327 84127327 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 84127327 84127327 G A SNP MBTPS1 ENST00000343411 human ensembl 74_37 -1 known missense c.725 p.T242M 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors MBTPS1 HGNC ENSG00000140943 tier1 - - 46 0 0.00 34 14 28.57 MBTPS1 0 genome.wustl.edu 37 16 84132850 84132850 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 84132850 84132850 G T SNP MBTPS1 ENST00000343411 human ensembl 74_37 -1 known missense c.229 p.L77M 1.000 NULL pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors MBTPS1 HGNC ENSG00000140943 72 0 0.00 90 7 7.22 MCAM 0 genome.wustl.edu 37 11 119182249 119182249 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 119182249 119182249 G T SNP MCAM ENST00000264036 human ensembl 74_37 -1 known silent c.1398 p.V466 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MCAM HGNC ENSG00000076706 55 0 0.00 33 3 8.33 MCHR2 0 genome.wustl.edu 37 6 100382357 100382358 + Frame_Shift_Ins INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 100382357 100382358 - A INS MCHR2 ENST00000281806 human ensembl 74_37 -1 known frame_shift_ins c.624_623 p.L210fs 1.000:1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt - no_errors MCHR2 HGNC ENSG00000152034 tier1 38 0 0.00 33 12 26.67 MCM2 0 genome.wustl.edu 37 3 127339610 127339610 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 127339610 127339610 C T SNP MCM2 ENST00000265056 human ensembl 74_37 +1 known missense c.2335 p.R779C 0.996 pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_MCM2,pfam_Mg_chelatse_chII,pfam_ATPase_AAA-3,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM2,prints_MCM_DNA-dep_ATPase - no_errors MCM2 HGNC ENSG00000073111 tier1 - - 43 0 0.00 19 15 44.12 MCM3AP-AS1 0 genome.wustl.edu 37 21 47662235 47662237 + RNA DEL TTT TTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 47662235 47662237 TTT - DEL MCM3AP-AS1 ENST00000421927 human ensembl 74_37 +1 known rna NULL NULL 0.165:0.204:0.305 - - - no_errors MCM3AP-AS1 HGNC ENSG00000215424 tier1 27 0 0.00 23 10 30.30 MCOLN1 0 genome.wustl.edu 37 19 7595268 7595268 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 7595268 7595268 C T SNP MCOLN1 ENST00000264079 human ensembl 74_37 +1 known missense c.1456 p.R486C 1.000 pfam_PKD1_2_channel pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF - no_errors MCOLN1 HGNC ENSG00000090674 tier1 - - 54 0 0.00 25 18 41.86 MCPH1 0 genome.wustl.edu 37 8 6289099 6289099 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 6289099 6289099 A - DEL MCPH1 ENST00000344683 human ensembl 74_37 +1 known frame_shift_del c.313 p.K107fs 0.022 NULL pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1 - no_errors MCPH1 HGNC ENSG00000147316 tier1 13 0 0.00 18 11 37.93 MCPH1 0 genome.wustl.edu 37 8 6479132 6479132 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 6479132 6479132 G A SNP MCPH1 ENST00000344683 human ensembl 74_37 +1 known missense c.2372 p.R791H 0.000 superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1 - no_errors MCPH1 HGNC ENSG00000147316 tier1 - - 107 0 0.00 82 33 28.45 MCTP1 0 genome.wustl.edu 37 5 94050578 94050578 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 94050578 94050578 T - DEL MCTP1 ENST00000515393 human ensembl 74_37 -1 known frame_shift_del c.2624 p.K875fs 1.000 pfam_PRibTrfase_C pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom - no_errors MCTP1 HGNC ENSG00000175471 tier1 47 0 0.00 55 22 28.57 MDGA2 0 genome.wustl.edu 37 14 47530713 47530713 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 47530713 47530713 G T SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known missense c.1264 p.R422S 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 tier1 - - 31 0 0.00 10 9 47.37 MDH1B 0 genome.wustl.edu 37 2 207620188 207620188 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 207620188 207620188 G A SNP MDH1B ENST00000374412 human ensembl 74_37 -1 known missense c.455 p.T152M 0.001 NULL pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C - no_errors MDH1B HGNC ENSG00000138400 tier1 - - 40 0 0.00 18 19 51.35 MDN1 0 genome.wustl.edu 37 6 90458950 90458950 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 90458950 90458950 C T SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.3754 p.D1252N 1.000 superfamily_P-loop_NTPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 tier1 - - 47 0 0.00 37 16 30.19 MEAF6 0 genome.wustl.edu 37 1 37967411 37967411 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 37967411 37967411 C T SNP MEAF6 ENST00000373075 human ensembl 74_37 -1 known missense c.527 p.R176Q 1.000 NULL pfam_Hist_AcTrfase_NuA4_cplx - no_errors MEAF6 HGNC ENSG00000163875 tier1 - - 89 0 0.00 70 44 38.26 MECOM 0 genome.wustl.edu 37 3 168833257 168833257 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 168833257 168833257 T - DEL MECOM ENST00000494292 human ensembl 74_37 -1 known frame_shift_del c.2403 p.G802fs 1.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC ENSG00000085276 tier1 101 0 0.00 66 25 27.47 MED13L 0 genome.wustl.edu 37 12 116412999 116412999 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 116412999 116412999 C T SNP MED13L ENST00000281928 human ensembl 74_37 -1 known missense c.5708 p.R1903H 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 tier1 - - 38 0 0.00 21 25 54.35 MED14 0 genome.wustl.edu 37 X 40588606 40588608 + RNA DEL AAA AAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 40588606 40588608 AAA - DEL MED14 ENST00000463072 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.610 - - - no_errors MED14 HGNC ENSG00000180182 tier1 17 0 0.00 12 12 50.00 MED23 0 genome.wustl.edu 37 6 131919846 131919846 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 131919846 131919846 T - DEL MED23 ENST00000368058 human ensembl 74_37 -1 known frame_shift_del c.2294 p.N765fs 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 tier1 30 0 0.00 21 14 40.00 MED24 0 genome.wustl.edu 37 17 38182920 38182920 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 38182920 38182920 G T SNP MED24 ENST00000394128 human ensembl 74_37 -1 known missense c.1789 p.L597M 0.905 pfam_Mediator_Med24_N pfam_Mediator_Med24_N - no_errors MED24 HGNC ENSG00000008838 tier1 - - 58 0 0.00 43 33 43.42 MED26 0 genome.wustl.edu 37 19 16687924 16687925 + Frame_Shift_Ins INS - - G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 16687924 16687925 - G INS MED26 ENST00000263390 human ensembl 74_37 -1 known frame_shift_ins c.717_716 p.G240fs 0.775:0.991 NULL pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors MED26 HGNC ENSG00000105085 tier1 21 0 0.00 9 6 40.00 MEG3 0 genome.wustl.edu 37 14 101301181 101301181 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 101301181 101301181 T - DEL MEG3 ENST00000398461 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MEG3 HGNC ENSG00000214548 tier1 26 0 0.00 12 6 33.33 MEGF6 0 genome.wustl.edu 37 1 3417208 3417208 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 3417208 3417208 C T SNP MEGF6 ENST00000356575 human ensembl 74_37 -1 known missense c.2696 p.R899Q 0.000 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF6 HGNC ENSG00000162591 tier1 - - 150 0 0.00 55 30 35.29 MEGF8 0 genome.wustl.edu 37 19 42838221 42838221 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 42838221 42838221 C T SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known silent c.414 p.R138 1.000 superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 tier1 - - 77 0 0.00 45 16 26.23 MEGF8 0 genome.wustl.edu 37 19 42857956 42857956 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 42857956 42857956 G T SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known missense c.3791 p.G1264V 1.000 superfamily_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 58 0 0.00 50 3 5.56 METTL12 0 genome.wustl.edu 37 11 62434855 62434855 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 62434855 62434855 C T SNP METTL12 ENST00000398922 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors METTL12 HGNC ENSG00000214756 tier1 - - 18 0 0.00 6 6 50.00 METTL13 0 genome.wustl.edu 37 1 171757033 171757033 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 171757033 171757033 G T SNP METTL13 ENST00000361735 human ensembl 74_37 +1 known missense c.1272 p.Q424H 1.000 NULL pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase - no_errors METTL13 HGNC ENSG00000010165 85 0 0.00 76 4 5.00 METTL15 0 genome.wustl.edu 37 11 28318379 28318379 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 28318379 28318379 G A SNP METTL15 ENST00000303459 human ensembl 74_37 +1 known missense c.679 p.G227R 1.000 pfam_RsmH,superfamily_SAM-dep_MeTrfase_MraW_recog,tigrfam_RsmH pfam_RsmH,superfamily_SAM-dep_MeTrfase_MraW_recog,tigrfam_RsmH - no_errors METTL15 HGNC ENSG00000169519 tier1 rs145080229 - 102 0 0.00 44 22 32.84 METTL18 0 genome.wustl.edu 37 1 169762095 169762095 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 169762095 169762095 C A SNP METTL18 ENST00000303469 human ensembl 74_37 -1 known missense c.742 p.D248Y 0.001 NULL pfam_Nicotinamide_N-MeTfrase-like,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom - no_errors METTL18 HGNC ENSG00000171806 tier1 - - 49 0 0.00 74 16 17.78 METTL21EP 0 genome.wustl.edu 37 13 103544906 103544909 + RNA DEL TTTT TTTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTTT TTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 103544906 103544909 TTTT - DEL METTL21EP ENST00000605100 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001:0.000:0.002 - - - no_errors METTL21EP HGNC ENSG00000250878 tier1 39 0 0.00 24 26 52.00 MEX3A 0 genome.wustl.edu 37 1 156051672 156051672 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 156051672 156051672 G A SNP MEX3A ENST00000532414 human ensembl 74_37 -1 known silent c.118 p.L40 0.984 NULL pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3A HGNC ENSG00000254726 tier1 - - 26 0 0.00 31 10 24.39 MFN2 0 genome.wustl.edu 37 1 12064057 12064057 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 12064057 12064057 G A SNP MFN2 ENST00000235329 human ensembl 74_37 +1 known missense c.1169 p.C390Y 1.000 superfamily_P-loop_NTPase pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN2 HGNC ENSG00000116688 tier1 - - 39 0 0.00 27 8 22.86 MFRP 0 genome.wustl.edu 37 11 119213688 119213688 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 119213688 119213688 G - DEL MFRP ENST00000449574 human ensembl 74_37 -1 known frame_shift_del c.1150 p.H384fs 0.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB_dom,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors MFRP HGNC ENSG00000235718 tier1 22 0 0.00 13 11 45.83 MFSD8 0 genome.wustl.edu 37 4 128854191 128854191 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 128854191 128854191 G T SNP MFSD8 ENST00000296468 human ensembl 74_37 -1 known missense c.812 p.A271D 0.608 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD8 HGNC ENSG00000164073 tier1 - - 58 0 0.00 64 4 5.88 MGAT5B 0 genome.wustl.edu 37 17 74900438 74900438 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 74900438 74900438 C - DEL MGAT5B ENST00000428789 human ensembl 74_37 +1 known frame_shift_del c.657 p.P221fs 0.987 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MGAT5B HGNC ENSG00000167889 tier1 102 0 0.00 49 17 25.76 MICAL3 0 genome.wustl.edu 37 22 18291687 18291687 + Missense_Mutation SNP A A C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 18291687 18291687 A C SNP MICAL3 ENST00000441493 human ensembl 74_37 -1 known missense c.5573 p.L1858R 1.000 pfam_DUF3585 pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 tier1 - - 44 0 0.00 32 4 11.11 MICAL3 0 genome.wustl.edu 37 22 18387473 18387473 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 18387473 18387473 T C SNP MICAL3 ENST00000441493 human ensembl 74_37 -1 known missense c.397 p.T133A 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 tier1 - - 112 0 0.00 44 30 39.47 MICALL2 0 genome.wustl.edu 37 7 1484824 1484824 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 1484824 1484824 C T SNP MICALL2 ENST00000297508 human ensembl 74_37 -1 known silent c.882 p.S294 0.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL2 HGNC ENSG00000164877 tier1 - - 85 0 0.00 31 18 36.73 MIER1 0 genome.wustl.edu 37 1 67425468 67425469 + RNA INS - - T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 67425468 67425469 - T INS MIER1 ENST00000493357 human ensembl 74_37 +1 known rna NULL NULL 0.365:0.205 - - - no_errors MIER1 HGNC ENSG00000198160 tier1 18 0 0.00 23 11 32.35 MIIP 0 genome.wustl.edu 37 1 12089365 12089365 + RNA SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 12089365 12089365 C A SNP MIIP ENST00000466860 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIIP HGNC ENSG00000116691 tier1 - - 95 0 0.00 67 40 37.38 MINK1 0 genome.wustl.edu 37 17 4784488 4784488 + Missense_Mutation SNP A A T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 4784488 4784488 A T SNP MINK1 ENST00000355280 human ensembl 74_37 +1 known missense c.242 p.N81I 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MINK1 HGNC ENSG00000141503 tier1 - - 54 0 0.00 25 18 41.86 MIOS 0 genome.wustl.edu 37 7 7612169 7612169 + Silent SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 7612169 7612169 T C SNP MIOS ENST00000340080 human ensembl 74_37 +1 known silent c.63 p.C21 1.000 NULL smart_WD40_repeat - no_errors MIOS HGNC ENSG00000164654 tier1 - - 81 0 0.00 49 30 37.97 MIR1293 0 genome.wustl.edu 37 12 50627995 50627997 + RNA DEL TTT TTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 50627995 50627997 TTT - DEL MIR1293 ENST00000408677 human ensembl 74_37 -1 known rna NULL NULL 0.541:0.545:0.544 - - - no_errors MIR1293 HGNC ENSG00000221604 tier1 17 0 0.00 25 3 10.71 MIR1303 0 genome.wustl.edu 37 5 154065370 154065370 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 154065370 154065370 T - DEL MIR1303 ENST00000408625 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors MIR1303 HGNC ENSG00000221552 tier1 10 0 0.00 12 4 25.00 MIR133A1 0 genome.wustl.edu 37 18 19408832 19408833 + RNA DEL TT TT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 19408832 19408833 TT - DEL MIR133A1 ENST00000581072 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors MIR133A1 HGNC ENSG00000265142 tier1 13 0 0.00 10 8 44.44 MIR146A 0 genome.wustl.edu 37 5 159912629 159912629 + RNA SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 159912629 159912629 G T SNP MIR146A ENST00000517927 human ensembl 74_37 +1 known rna NULL NULL 0.022 - - - no_errors MIR146A HGNC ENSG00000253522 tier1 - - 8 0 0.00 4 5 55.56 MIR205HG 0 genome.wustl.edu 37 1 209605629 209605629 + RNA SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 209605629 209605629 A G SNP MIR205HG ENST00000366437 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors MIR205HG HGNC ENSG00000230937 tier1 - - 40 0 0.00 45 10 18.18 MIR3613 0 genome.wustl.edu 37 13 50570574 50570575 + RNA DEL TT TT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 50570574 50570575 TT - DEL MIR3613 ENST00000579844 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors MIR3613 HGNC ENSG00000264864 tier1 39 0 0.00 48 15 23.81 MIR3613 0 genome.wustl.edu 37 13 50570605 50570606 + RNA DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 50570605 50570606 AA - DEL MIR3613 ENST00000579844 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors MIR3613 HGNC ENSG00000264864 tier1 41 0 0.00 35 16 31.37 MIR3908 0 genome.wustl.edu 37 12 124021036 124021039 + RNA DEL TTTT TTTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTTT TTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 124021036 124021039 TTTT - DEL MIR3908 ENST00000579798 human ensembl 74_37 +1 known rna NULL NULL 0.136:0.138:0.140:0.142 - - - no_errors MIR3908 HGNC ENSG00000266655 tier1 8 0 0.00 18 4 18.18 MIR3926-2 0 genome.wustl.edu 37 8 12584756 12584756 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 12584756 12584756 A - DEL MIR3926-2 ENST00000578598 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors MIR3926-2 HGNC ENSG00000266206 tier1 37 0 0.00 41 8 16.33 MIR3938 0 genome.wustl.edu 37 3 55886574 55886574 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 55886574 55886574 A - DEL MIR3938 ENST00000582157 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR3938 HGNC ENSG00000264013 tier1 33 0 0.00 28 9 24.32 MIR624 0 genome.wustl.edu 37 14 31483858 31483858 + RNA SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 31483858 31483858 G T SNP MIR624 ENST00000385217 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors MIR624 HGNC ENSG00000207952 tier1 - - 113 0 0.00 100 11 9.91 MIR644A 0 genome.wustl.edu 37 20 33054130 33054130 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 33054130 33054130 T - DEL MIR644A ENST00000385262 human ensembl 74_37 +1 known rna NULL NULL 0.030 - - - no_errors MIR644A HGNC ENSG00000207997 tier1 75 0 0.00 63 35 35.71 MIR663B 0 genome.wustl.edu 37 2 133014620 133014620 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 133014620 133014620 G A SNP MIR663B ENST00000408361 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors MIR663B HGNC ENSG00000221288 tier1 - - 188 0 0.00 160 19 10.61 MIS18BP1 0 genome.wustl.edu 37 14 45711241 45711241 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 45711241 45711241 T 0 DEL MIS18BP1 ENST00000310806 human ensembl 74_37 -1 known frame_shift_del c.1139 p.N380fs 0.064 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 53 0 0.00 72 4 5.26 MITF 0 genome.wustl.edu 37 3 69788686 69788686 + RNA SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 69788686 69788686 C A SNP MITF ENST00000461511 human ensembl 74_37 +1 known rna NULL NULL 0.916 - - - no_errors MITF HGNC ENSG00000187098 tier1 - - 35 0 0.00 19 10 34.48 MKI67 0 genome.wustl.edu 37 10 129903982 129903982 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 129903982 129903982 G A SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.6122 p.A2041V 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 tier1 - - 79 0 0.00 52 42 44.68 MKI67 0 genome.wustl.edu 37 10 129901402 129901402 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 129901402 129901402 C T SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.8702 p.S2901N 0.003 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 44 0 0.00 35 4 10.26 MKL1 0 genome.wustl.edu 37 22 40807711 40807711 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 40807711 40807711 G T SNP MKL1 ENST00000355630 human ensembl 74_37 -1 known missense c.2479 p.L827M 1.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL1 HGNC ENSG00000196588 tier1 - - 44 0 0.00 29 4 12.12 MKL2 0 genome.wustl.edu 37 16 14346300 14346300 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 14346300 14346300 C - DEL MKL2 ENST00000341243 human ensembl 74_37 +1 known frame_shift_del c.2611 p.R873fs 1.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL2 HGNC ENSG00000186260 tier1 34 0 0.00 21 12 36.36 MKRN2 0 genome.wustl.edu 37 3 12613765 12613765 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 12613765 12613765 T C SNP MKRN2 ENST00000170447 human ensembl 74_37 +1 known missense c.535 p.C179R 1.000 pfam_Znf_CCCH,smart_Znf_CCCH pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN2 HGNC ENSG00000075975 tier1 - - 64 0 0.00 43 18 29.51 MLIP 0 genome.wustl.edu 37 6 54002313 54002313 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 54002313 54002313 G T SNP MLIP ENST00000502396 human ensembl 74_37 +1 putative missense c.1446 p.Q482H 0.207 NULL NULL - no_errors MLIP HGNC ENSG00000146147 tier1 - - 27 0 0.00 13 8 38.10 MLLT3 0 genome.wustl.edu 37 9 20363485 20363485 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 20363485 20363485 G T SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known missense c.1320 p.S440R 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 tier1 - - 56 0 0.00 38 5 11.36 MLLT3 0 genome.wustl.edu 37 9 20414367 20414367 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 20414367 20414367 G A SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known silent c.477 p.S159 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 tier1 - - 61 0 0.00 56 7 11.11 MLXIP 0 genome.wustl.edu 37 12 122620180 122620180 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 122620180 122620180 G - DEL MLXIP ENST00000319080 human ensembl 74_37 +1 known frame_shift_del c.1999 p.G668fs 0.001 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLXIP HGNC ENSG00000175727 tier1 75 0 0.00 40 33 45.21 MMACHC 0 genome.wustl.edu 37 1 45973942 45973942 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 45973942 45973942 G T SNP MMACHC ENST00000401061 human ensembl 74_37 +1 known missense c.335 p.R112L 1.000 NULL NULL - no_errors MMACHC HGNC ENSG00000132763 tier1 - - 38 0 0.00 27 4 12.90 MMEL1 0 genome.wustl.edu 37 1 2530095 2530095 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 2530095 2530095 G T SNP MMEL1 ENST00000378412 human ensembl 74_37 -1 known silent c.1176 p.A392 0.950 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MMEL1 HGNC ENSG00000142606 tier1 - - 62 0 0.00 38 4 9.52 MMP24 0 genome.wustl.edu 37 20 33857673 33857673 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 33857673 33857673 G T SNP MMP24 ENST00000246186 human ensembl 74_37 +1 known missense c.1305 p.R435S 0.811 pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP24 HGNC ENSG00000125966 73 0 0.00 62 4 6.06 MMP9 0 genome.wustl.edu 37 20 44641089 44641089 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 44641089 44641089 G A SNP MMP9 ENST00000372330 human ensembl 74_37 +1 known missense c.1198 p.A400T 0.998 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP9 HGNC ENSG00000100985 tier1 - - 81 0 0.00 35 21 37.50 MN1 0 genome.wustl.edu 37 22 28196395 28196395 + Missense_Mutation SNP C C G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 28196395 28196395 C G SNP MN1 ENST00000302326 human ensembl 74_37 -1 known missense c.137 p.G46A 1.000 NULL NULL - no_errors MN1 HGNC ENSG00000169184 tier1 - - 53 0 0.00 40 5 11.11 MNS1 0 genome.wustl.edu 37 15 56735707 56735707 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 56735707 56735707 C T SNP MNS1 ENST00000260453 human ensembl 74_37 -1 known missense c.932 p.R311Q 1.000 NULL NULL - no_errors MNS1 HGNC ENSG00000138587 tier1 rs140554714 - 39 0 0.00 15 11 42.31 MOB1B 0 genome.wustl.edu 37 4 71840885 71840885 + Nonsense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 71840885 71840885 G A SNP MOB1B ENST00000309395 human ensembl 74_37 +1 known nonsense c.291 p.W97* 1.000 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB1B HGNC ENSG00000173542 tier1 - - 42 0 0.00 48 27 36.00 MOB3A 0 genome.wustl.edu 37 19 2078178 2078178 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 2078178 2078178 C T SNP MOB3A ENST00000357066 human ensembl 74_37 -1 known missense c.382 p.A128T 1.000 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB3A HGNC ENSG00000172081 tier1 - - 46 0 0.00 25 13 34.21 MOCOS 0 genome.wustl.edu 37 18 33836815 33836815 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 33836815 33836815 T - DEL MOCOS ENST00000588132 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MOCOS HGNC ENSG00000075643 tier1 14 0 0.00 10 7 41.18 MOGS 0 genome.wustl.edu 37 2 74692123 74692123 + Missense_Mutation SNP G G C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 74692123 74692123 G C SNP MOGS ENST00000233616 human ensembl 74_37 -1 known missense c.252 p.D84E 1.000 pfam_Glycoside_hydrolase_63 pfam_Glycoside_hydrolase_63,superfamily_6-hairpin_glycosidase-like - no_errors MOGS HGNC ENSG00000115275 tier1 - - 21 0 0.00 17 5 22.73 MON1A 0 genome.wustl.edu 37 3 49947762 49947762 + Missense_Mutation SNP T T G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 49947762 49947762 T G SNP MON1A ENST00000296473 human ensembl 74_37 -1 known missense c.1460 p.D487A 0.989 pfam_Vacuolar_fusion_protein_MON1 pfam_Vacuolar_fusion_protein_MON1,superfamily_Longin-like_dom,prints_Vacuolar_fusion_protein_MON1 - no_errors MON1A HGNC ENSG00000164077 tier1 - - 23 0 0.00 21 9 30.00 MORC3 0 genome.wustl.edu 37 21 37711111 37711111 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 37711111 37711111 C T SNP MORC3 ENST00000400485 human ensembl 74_37 +1 known missense c.500 p.A167V 0.893 superfamily_HATPase_ATP-bd pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC ENSG00000159256 tier1 - - 45 0 0.00 20 11 35.48 MORN1 0 genome.wustl.edu 37 1 2318863 2318863 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 2318863 2318863 C T SNP MORN1 ENST00000378531 human ensembl 74_37 -1 known missense c.353 p.R118Q 0.829 pfam_MORN,smart_MORN pfam_MORN,smart_MORN - no_errors MORN1 HGNC ENSG00000116151 tier1 rs146451358 - 55 0 0.00 32 28 46.67 MOS 0 genome.wustl.edu 37 8 57026410 57026410 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 57026410 57026410 C T SNP MOS ENST00000311923 human ensembl 74_37 -1 known silent c.132 p.P44 0.019 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MOS HGNC ENSG00000172680 tier1 - - 22 0 0.00 23 6 20.69 MOSPD1 0 genome.wustl.edu 37 X 134033048 134033048 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 134033048 134033048 T - DEL MOSPD1 ENST00000462060 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MOSPD1 HGNC ENSG00000101928 tier1 22 0 0.00 5 14 73.68 MOSPD1 0 genome.wustl.edu 37 X 134033227 134033227 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 134033227 134033227 T - DEL MOSPD1 ENST00000462060 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors MOSPD1 HGNC ENSG00000101928 tier1 20 0 0.00 10 9 47.37 MOXD1 0 genome.wustl.edu 37 6 132722421 132722421 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 132722421 132722421 C T SNP MOXD1 ENST00000367963 human ensembl 74_37 -1 known missense c.145 p.A49T 0.979 pfam_DOMON_domain,smart_DOMON_domain,pfscan_DOMON_domain pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors MOXD1 HGNC ENSG00000079931 tier1 - - 10 0 0.00 5 8 61.54 MPHOSPH9 0 genome.wustl.edu 37 12 123706322 123706322 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 123706322 123706322 A - DEL MPHOSPH9 ENST00000392425 human ensembl 74_37 -1 known frame_shift_del c.13 p.S5fs 0.977 NULL superfamily_Prefoldin - no_errors MPHOSPH9 HGNC ENSG00000051825 tier1 72 0 0.00 67 30 30.93 MPHOSPH9 0 genome.wustl.edu 37 12 123641367 123641367 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 123641367 123641367 G T SNP MPHOSPH9 ENST00000392425 human ensembl 74_37 -1 known missense c.3083 p.S1028Y 1.000 NULL superfamily_Prefoldin - no_errors MPHOSPH9 HGNC ENSG00000051825 21 0 0.00 39 3 7.14 MPP6 0 genome.wustl.edu 37 7 24708156 24708156 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 24708156 24708156 G T SNP MPP6 ENST00000222644 human ensembl 74_37 +1 known missense c.991 p.A331S 1.000 NULL pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP6 HGNC ENSG00000105926 tier1 - - 56 0 0.00 76 8 9.52 MPP7 0 genome.wustl.edu 37 10 28348538 28348538 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 28348538 28348538 A - DEL MPP7 ENST00000496637 human ensembl 74_37 -1 known frame_shift_del c.1339 p.Y447fs 0.021 NULL pfam_L27_C,pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,superfamily_P-loop_NTPase,smart_L27,smart_PDZ,smart_SH3_domain,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_SH3_domain - no_errors MPP7 HGNC ENSG00000150054 tier1 51 0 0.00 45 14 23.73 MPPED2 0 genome.wustl.edu 37 11 30433064 30433064 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 30433064 30433064 G A SNP MPPED2 ENST00000358117 human ensembl 74_37 -1 known missense c.836 p.P279L 1.000 NULL pfam_PEstase_dom - no_errors MPPED2 HGNC ENSG00000066382 tier1 - - 97 0 0.00 77 6 7.23 MPRIP 0 genome.wustl.edu 37 17 17035001 17035001 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 17035001 17035001 C - DEL MPRIP ENST00000395811 human ensembl 74_37 +1 known frame_shift_del c.490 p.T166fs 1.000 NULL pfam_Pleckstrin_homology,superfamily_Ferritin-like_SF,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors MPRIP HGNC ENSG00000133030 tier1 64 0 0.00 34 15 30.61 MRAP 0 genome.wustl.edu 37 21 33684112 33684112 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 33684112 33684112 G A SNP MRAP ENST00000303645 human ensembl 74_37 +1 known silent c.324 p.A108 0.000 NULL NULL - no_errors MRAP HGNC ENSG00000170262 tier1 - - 34 0 0.00 21 11 34.38 MRGPRF 0 genome.wustl.edu 37 11 68772931 68772931 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 68772931 68772931 T C SNP MRGPRF ENST00000309099 human ensembl 74_37 -1 known missense c.847 p.N283D 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRF HGNC ENSG00000172935 tier1 - - 15 0 0.00 6 6 50.00 MRPL15 0 genome.wustl.edu 37 8 55055256 55055256 + Nonsense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 55055256 55055256 G T SNP MRPL15 ENST00000260102 human ensembl 74_37 +1 known nonsense c.463 p.E155* 1.000 pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P - no_errors MRPL15 HGNC ENSG00000137547 56 0 0.00 76 4 5.00 MRPL32 0 genome.wustl.edu 37 7 42977165 42977165 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 42977165 42977165 C T SNP MRPL32 ENST00000223324 human ensembl 74_37 +1 known missense c.557 p.T186I 1.000 NULL pfam_Ribosomal_L32p,superfamily_Ribosomal_zn-bd - no_errors MRPL32 HGNC ENSG00000106591 tier1 - - 13 0 0.00 14 7 33.33 MRS2 0 genome.wustl.edu 37 6 24415278 24415278 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 24415278 24415278 G T SNP MRS2 ENST00000443868 human ensembl 74_37 +1 known silent c.615 p.G205 1.000 NULL NULL - no_errors MRS2 HGNC ENSG00000124532 tier1 - - 52 0 0.00 55 5 8.33 MS4A14 0 genome.wustl.edu 37 11 60165441 60165441 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 60165441 60165441 G T SNP MS4A14 ENST00000300187 human ensembl 74_37 +1 known missense c.255 p.W85C 1.000 pfam_CD20-like pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 65 0 0.00 73 4 5.19 MSH4 0 genome.wustl.edu 37 1 76288248 76288248 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 76288248 76288248 T - DEL MSH4 ENST00000263187 human ensembl 74_37 +1 known frame_shift_del c.1144 p.F383fs 1.000 pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH4 HGNC ENSG00000057468 tier1 29 0 0.00 29 10 25.64 MSH6 0 genome.wustl.edu 37 2 48025912 48025912 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 48025912 48025912 G A SNP MSH6 ENST00000234420 human ensembl 74_37 +1 known missense c.790 p.E264K 1.000 pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom - no_errors MSH6 HGNC ENSG00000116062 tier1 - - 21 0 0.00 16 7 30.43 MSMO1 0 genome.wustl.edu 37 4 166259012 166259012 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 166259012 166259012 G T SNP MSMO1 ENST00000261507 human ensembl 74_37 +1 known missense c.327 p.Q109H 1.000 NULL pfam_Fatty_acid_hydroxylase - no_errors MSMO1 HGNC ENSG00000052802 tier1 - - 57 0 0.00 72 4 5.26 MSN 0 genome.wustl.edu 37 X 64955272 64955272 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 64955272 64955272 G T SNP MSN ENST00000360270 human ensembl 74_37 +1 known missense c.939 p.K313N 1.000 pirsf_ERM pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors MSN HGNC ENSG00000147065 tier1 - - 42 0 0.00 9 25 73.53 MSR1 0 genome.wustl.edu 37 8 16012654 16012654 + Splice_Site SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 16012654 16012654 C A SNP MSR1 ENST00000262101 human ensembl 74_37 -1 known splice_site c.818-1 e5-1 1.000 - - - no_errors MSR1 HGNC ENSG00000038945 tier1 - - 41 0 0.00 50 22 30.56 MSRB1 0 genome.wustl.edu 37 16 1991122 1991122 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 1991122 1991122 C A SNP MSRB1 ENST00000399753 human ensembl 74_37 -1 putative missense c.340 p.G114W 0.000 NULL pfam_Met_Sox_Rdtase_MsrB,superfamily_Mss4-like - no_errors MSRB1 HGNC ENSG00000198736 tier1 - - 38 0 0.00 23 13 36.11 MST1 0 genome.wustl.edu 37 3 49724603 49724603 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 49724603 49724603 C T SNP MST1 ENST00000449682 human ensembl 74_37 -1 known missense c.586 p.G196S 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors MST1 HGNC ENSG00000173531 tier1 - - 68 0 0.00 27 17 38.64 MSX1 0 genome.wustl.edu 37 4 4864475 4864475 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 4864475 4864475 C T SNP MSX1 ENST00000382723 human ensembl 74_37 +1 known missense c.517 p.R173C 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MSX1 HGNC ENSG00000163132 tier1 - - 44 0 0.00 17 22 56.41 MTERF 0 genome.wustl.edu 37 7 91509449 91509449 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 91509449 91509449 A - DEL MTERF ENST00000481516 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors MTERF HGNC ENSG00000127989 tier1 19 0 0.00 14 4 22.22 MTHFD1L 0 genome.wustl.edu 37 6 151331085 151331085 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 151331085 151331085 C T SNP MTHFD1L ENST00000367321 human ensembl 74_37 +1 known silent c.2256 p.G752 0.093 pfam_Formate_THF_ligase,superfamily_P-loop_NTPase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase - no_errors MTHFD1L HGNC ENSG00000120254 tier1 - - 18 0 0.00 8 13 61.90 MTHFD2L 0 genome.wustl.edu 37 4 75041109 75041109 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 75041109 75041109 T C SNP MTHFD2L ENST00000395759 human ensembl 74_37 +1 known missense c.440 p.L147S 1.000 pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD2L HGNC ENSG00000163738 tier1 - - 85 0 0.00 75 9 10.71 MTMR2 0 genome.wustl.edu 37 11 95568534 95568535 + Frame_Shift_Del DEL TC TC - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 95568534 95568535 TC - DEL MTMR2 ENST00000346299 human ensembl 74_37 -1 known frame_shift_del c.1852_1851 p.E617fs 1.000:0.986 NULL pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR2 HGNC ENSG00000087053 tier1 37 0 0.00 46 12 20.69 MTMR3 0 genome.wustl.edu 37 22 30415781 30415781 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 30415781 30415781 C T SNP MTMR3 ENST00000401950 human ensembl 74_37 +1 known silent c.2133 p.G711 0.000 NULL pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors MTMR3 HGNC ENSG00000100330 tier1 - - 17 0 0.00 15 9 37.50 MTMR4 0 genome.wustl.edu 37 17 56573108 56573108 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 56573108 56573108 G T SNP MTMR4 ENST00000323456 human ensembl 74_37 -1 known missense c.2395 p.L799I 0.006 NULL pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR4 HGNC ENSG00000108389 49 0 0.00 47 4 7.84 MTMR6 0 genome.wustl.edu 37 13 25831386 25831386 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 25831386 25831386 G T SNP MTMR6 ENST00000381801 human ensembl 74_37 -1 known missense c.1043 p.S348Y 1.000 smart_Tyr_Pase_cat pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat - no_errors MTMR6 HGNC ENSG00000139505 tier1 - - 36 0 0.00 44 4 8.33 MTMR9 0 genome.wustl.edu 37 8 11172559 11172560 + Frame_Shift_Del DEL AG AG - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 11172559 11172560 AG - DEL MTMR9 ENST00000221086 human ensembl 74_37 +1 known frame_shift_del c.1099_1100 p.E368fs 1.000:1.000 NULL pfam_Myotubularin-like_Pase_dom - no_errors MTMR9 HGNC ENSG00000104643 tier1 81 0 0.00 71 22 23.66 MTNR1B 0 genome.wustl.edu 37 11 92715303 92715303 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 92715303 92715303 C T SNP MTNR1B ENST00000257068 human ensembl 74_37 +1 known missense c.914 p.A305V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Mel_1A_rcpt - no_errors MTNR1B HGNC ENSG00000134640 tier1 - - 53 0 0.00 32 18 36.00 MTOR 0 genome.wustl.edu 37 1 11204705 11204705 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 11204705 11204705 C A SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.4872 p.Q1624H 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 tier1 - - 46 0 0.00 13 11 45.83 MTR 0 genome.wustl.edu 37 1 237061140 237061140 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 237061140 237061140 T - DEL MTR ENST00000470570 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MTR HGNC ENSG00000116984 tier1 17 0 0.00 15 3 16.67 MTRF1 0 genome.wustl.edu 37 13 41826691 41826691 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 41826691 41826691 A - DEL MTRF1 ENST00000239852 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MTRF1 HGNC ENSG00000120662 tier1 17 0 0.00 6 19 76.00 MTRF1L 0 genome.wustl.edu 37 6 153311100 153311100 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 153311100 153311100 T C SNP MTRF1L ENST00000367233 human ensembl 74_37 -1 known missense c.1073 p.E358G 1.000 NULL pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF - no_errors MTRF1L HGNC ENSG00000112031 tier1 - - 66 0 0.00 46 23 33.33 MTSS1 0 genome.wustl.edu 37 8 125597329 125597329 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 125597329 125597329 T - DEL MTSS1 ENST00000518547 human ensembl 74_37 -1 known frame_shift_del c.459 p.R155fs 1.000 pfam_IRSp53/MIM_homology_IMD pfam_IRSp53/MIM_homology_IMD,pfscan_WH2_dom - no_errors MTSS1 HGNC ENSG00000170873 tier1 54 0 0.00 88 24 21.43 MTUS1 0 genome.wustl.edu 37 8 17504627 17504627 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 17504627 17504627 A - DEL MTUS1 ENST00000518889 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors MTUS1 HGNC ENSG00000129422 tier1 24 0 0.00 16 11 40.74 MTX1 0 genome.wustl.edu 37 1 155180357 155180357 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 155180357 155180357 G A SNP MTX1 ENST00000368376 human ensembl 74_37 +1 known missense c.617 p.R206Q 0.982 pfam_Sam37/metaxin pfam_Sam37/metaxin,superfamily_Glutathione-S-Trfase_C-like - no_errors MTX1 HGNC ENSG00000173171 tier1 - - 101 0 0.00 84 41 32.54 MUC12 0 genome.wustl.edu 37 7 100648029 100648029 + Missense_Mutation SNP A A T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 100648029 100648029 A T SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known missense c.14185 p.A4729S 0.000 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 75 0 0.00 40 31 43.66 MUC16 0 genome.wustl.edu 37 19 9069367 9069367 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 9069367 9069367 A G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.18079 p.S6027P 0.240 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 24 0 0.00 27 5 15.62 MUC16 0 genome.wustl.edu 37 19 9089043 9089043 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 9089043 9089043 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.2772 p.S924R 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 70 0 0.00 44 31 41.33 MUC17 0 genome.wustl.edu 37 7 100685146 100685146 + Silent SNP T T G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 100685146 100685146 T G SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known silent c.10449 p.V3483 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 102 0 0.00 53 44 45.36 MUC2 0 genome.wustl.edu 37 11 1093922 1093922 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 1093922 1093922 C T SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.5741 p.T1914M 0.002 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 tier1 - - 57 0 0.00 17 11 39.29 MUC2 0 genome.wustl.edu 37 11 1102508 1102508 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 1102508 1102508 C T SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.7892 p.T2631M 0.775 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 tier1 - - 31 0 0.00 16 5 23.81 MUC5B 0 genome.wustl.edu 37 11 1263254 1263254 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 1263254 1263254 C A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.5153 p.P1718H 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 tier1 - - 36 0 0.00 15 4 21.05 MUM1L1 0 genome.wustl.edu 37 X 105451090 105451090 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 105451090 105451090 C - DEL MUM1L1 ENST00000337685 human ensembl 74_37 +1 known frame_shift_del c.1665 p.L556fs 0.387 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MUM1L1 HGNC ENSG00000157502 tier1 16 0 0.00 3 6 66.67 MUM1L1 0 genome.wustl.edu 37 X 105451232 105451232 + Nonsense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 105451232 105451232 G T SNP MUM1L1 ENST00000337685 human ensembl 74_37 +1 known nonsense c.1807 p.E603* 1.000 superfamily_PyrdxlP-dep_Trfase superfamily_PyrdxlP-dep_Trfase - no_errors MUM1L1 HGNC ENSG00000157502 tier1 - - 19 0 0.00 16 3 15.79 MUT 0 genome.wustl.edu 37 6 49423796 49423796 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 49423796 49423796 G T SNP MUT ENST00000274813 human ensembl 74_37 -1 known missense c.908 p.P303Q 1.000 pfam_MeMalonylCoA_mutase_a/b_cat,superfamily_Cbl-dep_enz_cat,tigrfam_MMCoA_mutase_a_cat pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C - no_errors MUT HGNC ENSG00000146085 tier1 - - 51 0 0.00 61 4 6.15 MVK 0 genome.wustl.edu 37 12 110019240 110019240 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 110019240 110019240 C - DEL MVK ENST00000228510 human ensembl 74_37 +1 known frame_shift_del c.412 p.A141fs 1.000 pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Mev_gal_kin pfam_GHMP_kinase_N_dom,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Mev_gal_kin - no_errors MVK HGNC ENSG00000110921 tier1 51 0 0.00 22 15 40.54 MVP 0 genome.wustl.edu 37 16 29855904 29855904 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 29855904 29855904 C T SNP MVP ENST00000357402 human ensembl 74_37 +1 known silent c.1725 p.I575 0.770 pfam_MVP_shoulder pfam_Vault_N,pfam_MVP_shoulder - no_errors MVP HGNC ENSG00000013364 tier1 - - 52 0 0.00 34 15 30.61 MXI1 0 genome.wustl.edu 37 10 112045287 112045287 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 112045287 112045287 T - DEL MXI1 ENST00000485566 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MXI1 HGNC ENSG00000119950 tier1 17 0 0.00 16 6 27.27 MXI1 0 genome.wustl.edu 37 10 112046251 112046254 + RNA DEL AAAA AAAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 112046251 112046254 AAAA - DEL MXI1 ENST00000485566 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000:0.998:0.431 - - - no_errors MXI1 HGNC ENSG00000119950 tier1 94 0 0.00 71 29 29.00 MYCBP2-AS1 0 genome.wustl.edu 37 13 77661891 77661891 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 77661891 77661891 A - DEL MYCBP2-AS1 ENST00000422231 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MYCBP2-AS1 HGNC ENSG00000236051 tier1 12 0 0.00 11 4 26.67 MYEF2 0 genome.wustl.edu 37 15 48441553 48441553 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 48441553 48441553 C T SNP MYEF2 ENST00000324324 human ensembl 74_37 -1 known missense c.1394 p.S465N 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MYEF2 HGNC ENSG00000104177 tier1 rs200959924 - 22 0 0.00 15 5 25.00 MYH11 0 genome.wustl.edu 37 16 15820795 15820797 + In_Frame_Del DEL CTT CTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 15820795 15820797 CTT - DEL MYH11 ENST00000396324 human ensembl 74_37 -1 known in_frame_del c.3789_3787 p.K1263in_frame_del 1.000:1.000:1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 tier1 72 0 0.00 40 21 34.43 MYH11 0 genome.wustl.edu 37 16 15857682 15857682 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 15857682 15857682 G T SNP MYH11 ENST00000396324 human ensembl 74_37 -1 known missense c.1121 p.T374K 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 tier1 - - 70 0 0.00 51 5 8.93 MYH13 0 genome.wustl.edu 37 17 10216613 10216613 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 10216613 10216613 C A SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.4043 p.R1348L 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 tier1 - - 110 0 0.00 68 22 24.18 MYH14 0 genome.wustl.edu 37 19 50783570 50783570 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 50783570 50783570 G A SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known missense c.4220 p.R1407H 0.992 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 tier1 - - 78 0 0.00 34 21 38.18 MYH4 0 genome.wustl.edu 37 17 10356509 10356509 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 10356509 10356509 A G SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known missense c.3071 p.L1024P 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 tier1 rs150138598 - 208 0 0.00 145 79 35.27 MYH4 0 genome.wustl.edu 37 17 10370033 10370033 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 10370033 10370033 A - DEL MYH4 ENST00000255381 human ensembl 74_37 -1 known frame_shift_del c.30 p.F10fs 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 tier1 40 0 0.00 34 16 32.00 MYL10 0 genome.wustl.edu 37 7 101259565 101259565 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 101259565 101259565 C A SNP MYL10 ENST00000223167 human ensembl 74_37 -1 known missense c.468 p.E156D 1.000 pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYL10 HGNC ENSG00000106436 tier1 - - 108 0 0.00 56 33 37.08 MYLK3 0 genome.wustl.edu 37 16 46746626 46746626 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 46746626 46746626 A G SNP MYLK3 ENST00000394809 human ensembl 74_37 -1 known missense c.2048 p.V683A 0.999 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MYLK3 HGNC ENSG00000140795 tier1 - - 40 0 0.00 17 12 41.38 MYO15A 0 genome.wustl.edu 37 17 18023733 18023733 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 18023733 18023733 G A SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.1619 p.R540H 0.913 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 tier1 - - 31 0 0.00 13 9 40.91 MYO15B 0 genome.wustl.edu 37 17 73616646 73616646 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 73616646 73616646 G A SNP MYO15B ENST00000578382 human ensembl 74_37 +1 known rna NULL NULL 0.388 - - - no_errors MYO15B HGNC ENSG00000266714 tier1 - - 66 0 0.00 21 18 46.15 MYO16 0 genome.wustl.edu 37 13 109661386 109661386 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 109661386 109661386 T - DEL MYO16 ENST00000356711 human ensembl 74_37 +1 known frame_shift_del c.2518 p.F842fs 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 tier1 48 0 0.00 43 36 45.57 MYO16 0 genome.wustl.edu 37 13 109792622 109792622 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 109792622 109792622 G A SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known silent c.3996 p.R1332 0.925 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 tier1 - - 33 0 0.00 25 13 34.21 MYO18A 0 genome.wustl.edu 37 17 27401360 27401360 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 27401360 27401360 C T SNP MYO18A ENST00000529578 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors MYO18A HGNC ENSG00000196535 tier1 - - 20 0 0.00 12 9 42.86 MYO18A 0 genome.wustl.edu 37 17 27448877 27448877 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 27448877 27448877 C T SNP MYO18A ENST00000354329 human ensembl 74_37 -1 known missense c.1186 p.V396I 0.949 superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 tier1 - - 59 0 0.00 22 13 37.14 MYO18B 0 genome.wustl.edu 37 22 26173631 26173631 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 26173631 26173631 C T SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.1951 p.R651W 0.992 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 tier1 - - 139 0 0.00 59 43 42.16 MYO18B 0 genome.wustl.edu 37 22 26239856 26239856 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 26239856 26239856 A - DEL MYO18B ENST00000335473 human ensembl 74_37 +1 known frame_shift_del c.3363 p.R1123fs 0.001 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 tier1 38 0 0.00 30 2 6.25 MYO18B 0 genome.wustl.edu 37 22 26422673 26422673 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 26422673 26422673 A G SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.6733 p.S2245G 0.870 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 tier1 - - 38 0 0.00 18 6 25.00 MYO18B 0 genome.wustl.edu 37 22 26423570 26423570 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 26423570 26423570 G A SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.7630 p.E2544K 0.001 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 tier1 - - 27 0 0.00 11 8 42.11 MYO19 0 genome.wustl.edu 37 17 34862904 34862904 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 34862904 34862904 G - DEL MYO19 ENST00000431794 human ensembl 74_37 -1 known frame_shift_del c.1542 p.C515fs 0.926 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO19 HGNC ENSG00000141140 tier1 52 0 0.00 35 16 31.37 MYO1A 0 genome.wustl.edu 37 12 57422573 57422573 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 57422573 57422573 T - DEL MYO1A ENST00000300119 human ensembl 74_37 -1 known frame_shift_del c.3098 p.K1033fs 1.000 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1A HGNC ENSG00000166866 tier1 77 0 0.00 52 23 30.67 MYO1C 0 genome.wustl.edu 37 17 1386310 1386310 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 1386310 1386310 G A SNP MYO1C ENST00000359786 human ensembl 74_37 -1 known missense c.391 p.R131C 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1C HGNC ENSG00000197879 tier1 rs200048542 - 55 0 0.00 37 15 28.85 MYO5C 0 genome.wustl.edu 37 15 52571792 52571792 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 52571792 52571792 G A SNP MYO5C ENST00000261839 human ensembl 74_37 -1 known missense c.218 p.T73M 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC ENSG00000128833 tier1 - - 44 0 0.00 34 19 35.85 MYO6 0 genome.wustl.edu 37 6 76591494 76591494 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 76591494 76591494 G A SNP MYO6 ENST00000369981 human ensembl 74_37 +1 known missense c.2375 p.R792H 1.000 superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 tier1 - - 118 0 0.00 54 49 47.57 MYO7A 0 genome.wustl.edu 37 11 76901075 76901075 + Missense_Mutation SNP A A T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 76901075 76901075 A T SNP MYO7A ENST00000409709 human ensembl 74_37 +1 known missense c.3641 p.N1214I 1.000 pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 tier1 - - 90 0 0.00 42 17 28.81 MYOD1 0 genome.wustl.edu 37 11 17741518 17741518 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 17741518 17741518 G A SNP MYOD1 ENST00000250003 human ensembl 74_37 +1 known silent c.189 p.S63 0.801 pfam_Basic,smart_Basic pfam_Basic,pfam_Myf5,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYOD1 HGNC ENSG00000129152 tier1 - - 28 0 0.00 10 4 28.57 MYOM1 0 genome.wustl.edu 37 18 3135553 3135554 + Frame_Shift_Ins INS - - C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 3135553 3135554 - C INS MYOM1 ENST00000356443 human ensembl 74_37 -1 known frame_shift_ins c.2201_2200 p.D734fs 1.000:1.000 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM1 HGNC ENSG00000101605 tier1 27 0 0.00 16 8 33.33 MYOM2 0 genome.wustl.edu 37 8 2044147 2044147 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 2044147 2044147 T C SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known missense c.2186 p.L729P 0.996 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 tier1 - - 69 0 0.00 63 40 38.83 MYOM2 0 genome.wustl.edu 37 8 2088683 2088683 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 2088683 2088683 G - DEL MYOM2 ENST00000262113 human ensembl 74_37 +1 known frame_shift_del c.3838 p.S1282fs 1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 tier1 42 0 0.00 43 11 20.37 MYRF 0 genome.wustl.edu 37 11 61539013 61539013 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 61539013 61539013 C - DEL MYRF ENST00000278836 human ensembl 74_37 +1 known frame_shift_del c.782 p.S264fs 1.000 NULL pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors MYRF HGNC ENSG00000124920 tier1 70 0 0.00 28 27 49.09 NAA25 0 genome.wustl.edu 37 12 112486138 112486138 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 112486138 112486138 C T SNP NAA25 ENST00000261745 human ensembl 74_37 -1 known missense c.1838 p.R613H 1.000 pfam_N-acetylTrfase_B_cplx_non-cat pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 tier1 - - 38 0 0.00 24 22 47.83 NADK 0 genome.wustl.edu 37 1 1688163 1688163 + RNA DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 1688163 1688163 C - DEL NADK ENST00000492768 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NADK HGNC ENSG00000008130 tier1 22 0 0.00 15 13 46.43 NALCN 0 genome.wustl.edu 37 13 101742266 101742266 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 101742266 101742266 C T SNP NALCN ENST00000251127 human ensembl 74_37 -1 known silent c.3321 p.A1107 0.066 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 tier1 - - 47 0 0.00 41 13 24.07 NALCN 0 genome.wustl.edu 37 13 101763504 101763504 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 101763504 101763504 C T SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.2266 p.V756M 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 tier1 rs149203278 - 81 0 0.00 62 14 18.42 NAMPT 0 genome.wustl.edu 37 7 105909653 105909653 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 105909653 105909653 C A SNP NAMPT ENST00000222553 human ensembl 74_37 -1 known missense c.553 p.G185C 1.000 superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nicotinamide_PRibTrfase pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nicotinamide_PRibTrfase - no_errors NAMPT HGNC ENSG00000105835 tier1 - - 75 0 0.00 53 14 20.90 NAPB 0 genome.wustl.edu 37 20 23360531 23360531 + Silent SNP A A C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 23360531 23360531 A C SNP NAPB ENST00000377026 human ensembl 74_37 -1 known silent c.708 p.T236 0.996 prints_NSF_attach prints_NSF_attach - no_errors NAPB HGNC ENSG00000125814 tier1 - - 22 0 0.00 17 4 19.05 NAPSB 0 genome.wustl.edu 37 19 50837602 50837602 + RNA DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 50837602 50837602 C - DEL NAPSB ENST00000527780 human ensembl 74_37 -1 known rna NULL NULL 0.853 - - - no_errors NAPSB HGNC ENSG00000131401 tier1 78 0 0.00 47 33 41.25 NAT10 0 genome.wustl.edu 37 11 34158541 34158541 + Nonsense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 34158541 34158541 G T SNP NAT10 ENST00000257829 human ensembl 74_37 +1 known nonsense c.2179 p.G727* 1.000 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,superfamily_P-loop_NTPase,pfscan_GNAT_dom - no_errors NAT10 HGNC ENSG00000135372 tier1 - - 82 0 0.00 67 5 6.94 NAV2 0 genome.wustl.edu 37 11 19735426 19735426 + Missense_Mutation SNP T T G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 19735426 19735426 T G SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.185 p.V62G 0.964 superfamily_CH-domain pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 tier1 - - 63 0 0.00 26 23 46.94 NBEA 0 genome.wustl.edu 37 13 36026232 36026232 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 36026232 36026232 C T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.6308 p.T2103M 1.000 pfam_DUF1088 pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 tier1 - - 25 0 0.00 10 15 60.00 NBEAL2 0 genome.wustl.edu 37 3 47041439 47041439 + Missense_Mutation SNP T T A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 47041439 47041439 T A SNP NBEAL2 ENST00000450053 human ensembl 74_37 +1 known missense c.3850 p.W1284R 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 tier1 - - 42 0 0.00 14 14 50.00 NBN 0 genome.wustl.edu 37 8 90965666 90965666 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 90965666 90965666 T 0 DEL NBN ENST00000265433 human ensembl 74_37 -1 known frame_shift_del c.1651 p.R551fs 1.000 pirsf_Nibrin_met pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom - no_errors NBN HGNC ENSG00000104320 72 0 0.00 149 9 5.70 NBPF10 0 genome.wustl.edu 37 1 145367737 145367737 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 145367737 145367737 A - DEL NBPF10 ENST00000342960 human ensembl 74_37 +1 known frame_shift_del c.10333 p.R3447fs 0.003 NULL pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 tier1 86 0 0.00 116 19 14.07 NBPF14 0 genome.wustl.edu 37 1 148010136 148010136 + Missense_Mutation SNP T T G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 148010136 148010136 T G SNP NBPF14 ENST00000369219 human ensembl 74_37 -1 known missense c.1767 p.E589D 0.007 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF14 HGNC ENSG00000122497 76 0 0.00 80 5 5.88 NBPF18P 0 genome.wustl.edu 37 1 151991293 151991293 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 151991293 151991293 C T SNP NBPF18P ENST00000432386 human ensembl 74_37 +1 known rna NULL NULL 0.056 - - - no_errors NBPF18P HGNC ENSG00000229021 tier1 - - 109 0 0.00 77 40 34.19 NBPF3 0 genome.wustl.edu 37 1 21809667 21809667 + Missense_Mutation SNP C C G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 21809667 21809667 C G SNP NBPF3 ENST00000318249 human ensembl 74_37 +1 known missense c.1690 p.P564A 0.000 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF3 HGNC ENSG00000142794 tier1 rs139757131 - 63 0 0.00 55 17 23.61 NCAM2 0 genome.wustl.edu 37 21 22881230 22881230 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 22881230 22881230 G A SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known silent c.2136 p.L712 0.176 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 tier1 - - 66 0 0.00 45 17 27.42 NCAPD2 0 genome.wustl.edu 37 12 6630171 6630171 + Nonsense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 6630171 6630171 C T SNP NCAPD2 ENST00000315579 human ensembl 74_37 +1 known nonsense c.1609 p.R537* 0.719 superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 - no_errors NCAPD2 HGNC ENSG00000010292 tier1 - - 42 0 0.00 46 16 25.81 NCAPD3 0 genome.wustl.edu 37 11 134048586 134048586 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 134048586 134048586 G - DEL NCAPD3 ENST00000534548 human ensembl 74_37 -1 known frame_shift_del c.2725 p.Q909fs 1.000 superfamily_ARM-type_fold,pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC ENSG00000151503 tier1 54 0 0.00 33 32 49.23 NCAPG2 0 genome.wustl.edu 37 7 158483385 158483385 + Nonsense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 158483385 158483385 G A SNP NCAPG2 ENST00000409339 human ensembl 74_37 -1 known nonsense c.412 p.R138* 0.004 superfamily_ARM-type_fold pfam_Condensin2_G2,superfamily_ARM-type_fold - no_errors NCAPG2 HGNC ENSG00000146918 tier1 - - 43 0 0.00 32 17 34.69 NCEH1 0 genome.wustl.edu 37 3 172365826 172365826 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 172365826 172365826 T - DEL NCEH1 ENST00000538775 human ensembl 74_37 -1 known frame_shift_del c.313 p.S105fs 0.989 pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase - no_errors NCEH1 HGNC ENSG00000144959 tier1 27 0 0.00 9 6 40.00 NCL 0 genome.wustl.edu 37 2 232326561 232326561 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 232326561 232326561 G T SNP NCL ENST00000322723 human ensembl 74_37 -1 known silent c.303 p.A101 1.000 NULL pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors NCL HGNC ENSG00000115053 tier1 - - 227 0 0.00 143 12 7.74 NCOA3 0 genome.wustl.edu 37 20 46279857 46279857 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 46279857 46279857 G A SNP NCOA3 ENST00000371998 human ensembl 74_37 +1 known silent c.3783 p.Q1261 0.971 pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA3 HGNC ENSG00000124151 86 0 0.00 60 4 5.88 NCOA6 0 genome.wustl.edu 37 20 33346694 33346694 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 33346694 33346694 G - DEL NCOA6 ENST00000359003 human ensembl 74_37 -1 known frame_shift_del c.557 p.P186fs 0.996 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 tier1 45 0 0.00 30 9 23.08 NCOR2 0 genome.wustl.edu 37 12 124846745 124846745 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 124846745 124846745 G A SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known silent c.3024 p.S1008 0.001 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 tier1 - - 34 0 0.00 26 12 31.58 NDFIP1 0 genome.wustl.edu 37 5 141511526 141511527 + RNA DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 141511526 141511527 AA - DEL NDFIP1 ENST00000509436 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors NDFIP1 HGNC ENSG00000131507 tier1 9 0 0.00 7 5 41.67 NDFIP2 0 genome.wustl.edu 37 13 80117695 80117695 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 80117695 80117695 G A SNP NDFIP2 ENST00000218652 human ensembl 74_37 +1 known missense c.718 p.A240T 1.000 pfam_NEDD4/BSD2 pfam_NEDD4/BSD2 - no_errors NDFIP2 HGNC ENSG00000102471 tier1 - - 75 0 0.00 57 68 54.40 NDST1 0 genome.wustl.edu 37 5 149918868 149918868 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 149918868 149918868 G T SNP NDST1 ENST00000261797 human ensembl 74_37 +1 known missense c.1516 p.D506Y 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST1 HGNC ENSG00000070614 tier1 - - 54 0 0.00 33 4 10.81 NDST4 0 genome.wustl.edu 37 4 115767053 115767053 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 115767053 115767053 C T SNP NDST4 ENST00000264363 human ensembl 74_37 -1 known missense c.2041 p.A681T 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST4 HGNC ENSG00000138653 tier1 - - 54 0 0.00 43 24 35.82 NDUFA9 0 genome.wustl.edu 37 12 4794302 4794303 + Frame_Shift_Del DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 4794302 4794303 AA - DEL NDUFA9 ENST00000540688 human ensembl 74_37 +1 putative frame_shift_del c.51_52 p.N21fs 0.000:0.000 NULL NULL - no_errors NDUFA9 HGNC ENSG00000139180 tier1 10 0 0.00 9 15 62.50 NDUFAF1 0 genome.wustl.edu 37 15 41688939 41688939 + Nonsense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 41688939 41688939 C A SNP NDUFAF1 ENST00000260361 human ensembl 74_37 -1 known nonsense c.319 p.G107* 0.995 NULL pfam_NADH-UbQ_OxRdtase-assoc_prot30,superfamily_Galactose-bd-like - no_errors NDUFAF1 HGNC ENSG00000137806 tier1 - - 37 0 0.00 23 8 25.81 NDUFC2 0 genome.wustl.edu 37 11 77784147 77784147 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 77784147 77784147 A - DEL NDUFC2 ENST00000281031 human ensembl 74_37 -1 known frame_shift_del c.207 p.F69fs 0.809 pfam_NADH-UbQ_OxRdtase_b14.5b_su,pirsf_NADH-UbQ_OxRdtase_b14.5b_su pfam_NADH-UbQ_OxRdtase_b14.5b_su,pirsf_NADH-UbQ_OxRdtase_b14.5b_su - no_errors NDUFC2 HGNC ENSG00000151366 tier1 29 0 0.00 32 10 23.81 NDUFV3 0 genome.wustl.edu 37 21 44323366 44323366 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 44323366 44323366 T C SNP NDUFV3 ENST00000354250 human ensembl 74_37 +1 known missense c.244 p.S82P 0.005 NULL NULL - no_errors NDUFV3 HGNC ENSG00000160194 tier1 - - 83 0 0.00 62 14 18.42 NEB 0 genome.wustl.edu 37 2 152350344 152350344 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 152350344 152350344 G T SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.24617 p.T8206K 0.907 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 42 0 0.00 41 4 8.89 NEB 0 genome.wustl.edu 37 2 152420128 152420128 + Silent SNP T T G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 152420128 152420128 T G SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.18685 p.R6229 1.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 76 0 0.00 43 13 23.21 NEB 0 genome.wustl.edu 37 2 152424871 152424871 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 152424871 152424871 G - DEL NEB ENST00000397345 human ensembl 74_37 -1 known frame_shift_del c.17695 p.L5899fs 0.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 77 0 0.00 64 34 34.69 NEFL 0 genome.wustl.edu 37 8 24813280 24813280 + RNA SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 24813280 24813280 G T SNP NEFL ENST00000221169 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors NEFL HGNC ENSG00000104725 tier1 - - 33 0 0.00 35 13 27.08 NEK10 0 genome.wustl.edu 37 3 27352478 27352478 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 27352478 27352478 C A SNP NEK10 ENST00000341435 human ensembl 74_37 -1 known missense c.598 p.D200Y 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NEK10 HGNC ENSG00000163491 tier1 - - 16 0 0.00 13 11 45.83 NEK2 0 genome.wustl.edu 37 1 211847831 211847831 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 211847831 211847831 A G SNP NEK2 ENST00000366999 human ensembl 74_37 -1 novel missense c.121 p.Y41H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NEK2 HGNC ENSG00000117650 tier1 - - 28 0 0.00 52 12 18.46 NELFE 0 genome.wustl.edu 37 6 31926206 31926206 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 31926206 31926206 G - DEL NELFE ENST00000375429 human ensembl 74_37 -1 known frame_shift_del c.18 p.G7fs 0.996 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NELFE HGNC ENSG00000204356 tier1 89 0 0.00 43 30 41.10 NET1 0 genome.wustl.edu 37 10 5495005 5495005 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 5495005 5495005 T - DEL NET1 ENST00000465087 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NET1 HGNC ENSG00000173848 tier1 8 0 0.00 2 5 71.43 NETO1 0 genome.wustl.edu 37 18 70532046 70532046 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 70532046 70532046 C T SNP NETO1 ENST00000327305 human ensembl 74_37 -1 known missense c.217 p.E73K 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt - no_errors NETO1 HGNC ENSG00000166342 tier1 - - 100 0 0.00 51 32 38.55 NEUROG2 0 genome.wustl.edu 37 4 113435994 113435994 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 113435994 113435994 G A SNP NEUROG2 ENST00000313341 human ensembl 74_37 -1 known missense c.638 p.T213M 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors NEUROG2 HGNC ENSG00000178403 tier1 - - 43 0 0.00 20 22 52.38 NEUROG3 0 genome.wustl.edu 37 10 71332332 71332332 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 71332332 71332332 G A SNP NEUROG3 ENST00000242462 human ensembl 74_37 -1 known silent c.468 p.C156 0.049 superfamily_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors NEUROG3 HGNC ENSG00000122859 tier1 - - 31 0 0.00 18 16 47.06 NF1 0 genome.wustl.edu 37 17 29546092 29546092 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 29546092 29546092 G A SNP NF1 ENST00000358273 human ensembl 74_37 +1 known missense c.1597 p.V533I 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 tier1 - - 34 0 0.00 30 22 42.31 NFKB1 0 genome.wustl.edu 37 4 103533682 103533682 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 103533682 103533682 G A SNP NFKB1 ENST00000226574 human ensembl 74_37 +1 known silent c.2511 p.A837 1.000 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain pfam_RHD,pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like_dom,smart_IPT,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_Dor,prints_Ankyrin_rpt - no_errors NFKB1 HGNC ENSG00000109320 tier1 - - 52 0 0.00 46 27 36.99 NFKBIB 0 genome.wustl.edu 37 19 39398218 39398218 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 39398218 39398218 C T SNP NFKBIB ENST00000313582 human ensembl 74_37 +1 known silent c.888 p.H296 0.453 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors NFKBIB HGNC ENSG00000104825 tier1 - - 41 0 0.00 14 15 51.72 NHSL1 0 genome.wustl.edu 37 6 138754349 138754349 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 138754349 138754349 G T SNP NHSL1 ENST00000427025 human ensembl 74_37 -1 known missense c.1145 p.T382K 0.000 NULL NULL - no_errors NHSL1 HGNC ENSG00000135540 tier1 - - 77 0 0.00 65 5 7.14 NHSL2 0 genome.wustl.edu 37 X 71354500 71354500 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 71354500 71354500 C T SNP NHSL2 ENST00000540800 human ensembl 74_37 +1 known missense c.706 p.R236W 0.999 NULL NULL - no_errors NHSL2 HGNC ENSG00000204131 tier1 - - 26 0 0.00 3 9 75.00 NINJ2 0 genome.wustl.edu 37 12 675233 675233 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 675233 675233 G A SNP NINJ2 ENST00000305108 human ensembl 74_37 -1 known missense c.283 p.R95W 1.000 pfam_Ninjurin pfam_Ninjurin - no_errors NINJ2 HGNC ENSG00000171840 tier1 - - 57 0 0.00 85 15 15.00 NINJ2 0 genome.wustl.edu 37 12 772503 772503 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 772503 772503 G A SNP NINJ2 ENST00000305108 human ensembl 74_37 -1 known silent c.162 p.I54 0.000 NULL pfam_Ninjurin - no_errors NINJ2 HGNC ENSG00000171840 tier1 - - 51 0 0.00 68 20 22.73 NISCH 0 genome.wustl.edu 37 3 52507760 52507760 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 52507760 52507760 G A SNP NISCH ENST00000345716 human ensembl 74_37 +1 known missense c.680 p.C227Y 1.000 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC ENSG00000010322 tier1 - - 124 0 0.00 72 41 36.28 NIT1 0 genome.wustl.edu 37 1 161090515 161090515 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 161090515 161090515 G T SNP NIT1 ENST00000368009 human ensembl 74_37 +1 known missense c.944 p.R315M 1.000 pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors NIT1 HGNC ENSG00000158793 tier1 - - 30 0 0.00 43 4 8.51 NIT1 0 genome.wustl.edu 37 1 161090539 161090539 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 161090539 161090539 G T SNP NIT1 ENST00000368009 human ensembl 74_37 +1 known missense c.968 p.G323V 1.000 NULL pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors NIT1 HGNC ENSG00000158793 tier1 - - 25 0 0.00 24 5 17.24 NKD1 0 genome.wustl.edu 37 16 50659407 50659407 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 50659407 50659407 C T SNP NKD1 ENST00000268459 human ensembl 74_37 +1 known silent c.378 p.C126 1.000 NULL pfscan_EF_hand_dom - no_errors NKD1 HGNC ENSG00000140807 tier1 - - 33 0 0.00 20 10 33.33 NKD2 0 genome.wustl.edu 37 5 1038447 1038447 + Missense_Mutation SNP C C G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 1038447 1038447 C G SNP NKD2 ENST00000296849 human ensembl 74_37 +1 known missense c.1315 p.H439D 1.000 NULL pfscan_EF_hand_dom - no_errors NKD2 HGNC ENSG00000145506 80 0 0.00 88 8 7.02 NKD2 0 genome.wustl.edu 37 5 1038449 1038449 + Missense_Mutation SNP C C G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 1038449 1038449 C G SNP NKD2 ENST00000296849 human ensembl 74_37 +1 known missense c.1317 p.H439Q 1.000 NULL pfscan_EF_hand_dom - no_errors NKD2 HGNC ENSG00000145506 79 0 0.00 88 9 9.28 NKRF 0 genome.wustl.edu 37 X 118722358 118722359 + RNA DEL TT TT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 118722358 118722359 TT - DEL NKRF ENST00000487600 human ensembl 74_37 -1 known rna NULL NULL 0.949:0.947 - - - no_errors NKRF HGNC ENSG00000186416 tier1 16 0 0.00 14 13 48.15 NKTR 0 genome.wustl.edu 37 3 42659102 42659102 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 42659102 42659102 A - DEL NKTR ENST00000232978 human ensembl 74_37 +1 known frame_shift_del c.99 p.T35fs 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 tier1 62 0 0.00 48 22 31.43 NKX2-8 0 genome.wustl.edu 37 14 37050375 37050375 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 37050375 37050375 G T SNP NKX2-8 ENST00000258829 human ensembl 74_37 -1 known missense c.452 p.P151H 0.005 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-8 HGNC ENSG00000136327 tier1 - - 33 0 0.00 8 12 60.00 NLGN4Y 0 genome.wustl.edu 37 Y 16953112 16953113 + Frame_Shift_Ins INS - - C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 Y 16953112 16953113 - C INS NLGN4Y ENST00000382868 human ensembl 74_37 +1 known frame_shift_ins c.2592_2593 p.H865fs 0.997:1.000 NULL pfam_CarbesteraseB,prints_Neuroligin - no_errors NLGN4Y HGNC ENSG00000165246 tier1 59 0 0.00 10 40 80.00 NLGN4Y 0 genome.wustl.edu 37 Y 16952604 16952604 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 Y 16952604 16952604 G A SNP NLGN4Y ENST00000382868 human ensembl 74_37 +1 known missense c.2084 p.R695H 1.000 NULL pfam_CarbesteraseB,prints_Neuroligin - no_errors NLGN4Y HGNC ENSG00000165246 126 0 0.00 123 14 10.22 NLN 0 genome.wustl.edu 37 5 65088303 65088303 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 65088303 65088303 G A SNP NLN ENST00000380985 human ensembl 74_37 +1 known missense c.1348 p.A450T 1.000 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors NLN HGNC ENSG00000123213 tier1 - - 30 0 0.00 26 15 36.59 NLRP12 0 genome.wustl.edu 37 19 54313244 54313244 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 54313244 54313244 C T SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known missense c.1669 p.A557T 0.996 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 tier1 - - 25 0 0.00 17 13 43.33 NLRP13 0 genome.wustl.edu 37 19 56413508 56413508 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 56413508 56413508 G T SNP NLRP13 ENST00000342929 human ensembl 74_37 -1 known missense c.2682 p.N894K 0.011 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC ENSG00000173572 39 0 0.00 36 4 10.00 NLRP3 0 genome.wustl.edu 37 1 247607260 247607260 + RNA SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 247607260 247607260 C A SNP NLRP3 ENST00000532083 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NLRP3 HGNC ENSG00000162711 tier1 - - 189 0 0.00 209 78 27.18 NLRP7 0 genome.wustl.edu 37 19 55450978 55450978 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 55450978 55450978 C T SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known silent c.1293 p.P431 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 tier1 - - 22 0 0.00 16 7 30.43 NLRP9 0 genome.wustl.edu 37 19 56244870 56244870 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 56244870 56244870 G T SNP NLRP9 ENST00000332836 human ensembl 74_37 -1 known silent c.327 p.L109 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 tier1 - - 43 0 0.00 35 4 10.26 NME5 0 genome.wustl.edu 37 5 137451362 137451362 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 137451362 137451362 T - DEL NME5 ENST00000514481 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors NME5 HGNC ENSG00000112981 tier1 60 0 0.00 56 36 39.13 NMT2 0 genome.wustl.edu 37 10 15175068 15175068 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 15175068 15175068 G T SNP NMT2 ENST00000378165 human ensembl 74_37 -1 known missense c.586 p.P196T 1.000 pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT2 HGNC ENSG00000152465 tier1 - - 97 0 0.00 57 4 6.56 NMT2 0 genome.wustl.edu 37 10 15175251 15175251 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 15175251 15175251 G A SNP NMT2 ENST00000378165 human ensembl 74_37 -1 known missense c.503 p.A168V 0.976 pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT2 HGNC ENSG00000152465 tier1 - - 110 0 0.00 50 27 35.06 NOBOX 0 genome.wustl.edu 37 7 144101720 144101720 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 144101720 144101720 C T SNP NOBOX ENST00000467773 human ensembl 74_37 -1 known missense c.139 p.G47R 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors NOBOX HGNC ENSG00000106410 tier1 - - 105 0 0.00 60 43 41.75 NOL10 0 genome.wustl.edu 37 2 10815951 10815951 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 10815951 10815951 G T SNP NOL10 ENST00000381685 human ensembl 74_37 -1 known silent c.258 p.S86 0.997 superfamily_WD40_repeat_dom pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors NOL10 HGNC ENSG00000115761 tier1 - - 25 0 0.00 15 9 37.50 NOL8 0 genome.wustl.edu 37 9 95072527 95072527 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 95072527 95072527 G A SNP NOL8 ENST00000442668 human ensembl 74_37 -1 known missense c.2612 p.S871L 0.983 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NOL8 HGNC ENSG00000198000 tier1 - - 38 0 0.00 20 10 33.33 NONO 0 genome.wustl.edu 37 X 70510542 70510544 + In_Frame_Del DEL CAT CAT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 CAT CAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 70510542 70510544 CAT - DEL NONO ENST00000276079 human ensembl 74_37 +1 known in_frame_del c.55_57 p.H20in_frame_del 1.000:1.000:1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors NONO HGNC ENSG00000147140 tier1 51 0 0.00 9 28 75.68 NOP14 0 genome.wustl.edu 37 4 2939958 2939958 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 2939958 2939958 A - DEL NOP14 ENST00000398071 human ensembl 74_37 -1 known frame_shift_del c.2403 p.F801fs 0.010 NULL pfam_Nop14 - no_errors NOP14 HGNC ENSG00000087269 tier1 16 0 0.00 21 12 36.36 NOP14 0 genome.wustl.edu 37 4 2950090 2950090 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 2950090 2950090 G A SNP NOP14 ENST00000416614 human ensembl 74_37 -1 known missense c.1328 p.S443L 0.260 pfam_Nop14 pfam_Nop14 - no_errors NOP14 HGNC ENSG00000087269 tier1 rs148438590 - 71 0 0.00 35 26 42.62 NOP14-AS1 0 genome.wustl.edu 37 4 2952780 2952780 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 2952780 2952780 A - DEL NOP14-AS1 ENST00000515194 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NOP14-AS1 HGNC ENSG00000249673 tier1 21 0 0.00 8 6 42.86 NOTCH4 0 genome.wustl.edu 37 6 32164716 32164716 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 32164716 32164716 G A SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known missense c.5186 p.A1729V 1.000 pirsf_Notch,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 tier1 - - 65 0 0.00 32 20 37.04 NOTCH4 0 genome.wustl.edu 37 6 32181998 32181998 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 32181998 32181998 G T SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known missense c.2056 p.P686T 0.817 pirsf_Notch,smart_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 tier1 - - 14 0 0.00 4 6 60.00 NOTCH4 0 genome.wustl.edu 37 6 32191658 32191659 + In_Frame_Ins INS - - AGC TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 32191658 32191659 - AGC INS NOTCH4 ENST00000375023 human ensembl 74_37 -1 known in_frame_ins c.48_47 p.17in_frame_insL 0.002:0.003 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 tier1 31 0 0.00 25 13 34.21 NOTO 0 genome.wustl.edu 37 2 73435720 73435720 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 73435720 73435720 G A SNP NOTO ENST00000398468 human ensembl 74_37 +1 known missense c.575 p.R192Q 0.001 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors NOTO HGNC ENSG00000214513 tier1 - - 30 0 0.00 17 9 34.62 NPAP1 0 genome.wustl.edu 37 15 24921798 24921798 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 24921798 24921798 C - DEL NPAP1 ENST00000329468 human ensembl 74_37 +1 known frame_shift_del c.784 p.P263fs 0.001 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 tier1 18 0 0.00 21 12 36.36 NPAT 0 genome.wustl.edu 37 11 108044069 108044069 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 108044069 108044069 T - DEL NPAT ENST00000278612 human ensembl 74_37 -1 known frame_shift_del c.1642 p.S548fs 0.000 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors NPAT HGNC ENSG00000149308 tier1 34 0 0.00 32 10 23.81 NPAT 0 genome.wustl.edu 37 11 108093362 108093362 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 108093362 108093362 C T SNP NPAT ENST00000610253 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors NPAT HGNC ENSG00000149308 tier1 - - 68 0 0.00 37 21 36.21 NPBWR1 0 genome.wustl.edu 37 8 53852639 53852639 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 53852639 53852639 G A SNP NPBWR1 ENST00000331251 human ensembl 74_37 +1 known missense c.172 p.V58M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt - no_errors NPBWR1 HGNC ENSG00000183729 tier1 - - 84 0 0.00 65 32 32.99 NPEPL1 0 genome.wustl.edu 37 20 57268948 57268948 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 57268948 57268948 C T SNP NPEPL1 ENST00000356091 human ensembl 74_37 +1 known silent c.306 p.C102 1.000 NULL pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB - no_errors NPEPL1 HGNC ENSG00000215440 tier1 - - 23 0 0.00 11 10 47.62 NPEPL1 0 genome.wustl.edu 37 20 57289000 57289000 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 57289000 57289000 G A SNP NPEPL1 ENST00000356091 human ensembl 74_37 +1 known missense c.1153 p.A385T 0.994 pfam_Peptidase_M17_C pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB - no_errors NPEPL1 HGNC ENSG00000215440 tier1 - - 66 0 0.00 37 31 45.59 NPHP1 0 genome.wustl.edu 37 2 110881594 110881594 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 110881594 110881594 T C SNP NPHP1 ENST00000316534 human ensembl 74_37 -1 known missense c.1976 p.D659G 0.911 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NPHP1 HGNC ENSG00000144061 tier1 - - 77 0 0.00 72 12 14.29 NPHP4 0 genome.wustl.edu 37 1 5925296 5925296 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 5925296 5925296 C T SNP NPHP4 ENST00000378156 human ensembl 74_37 -1 known missense c.3682 p.V1228I 0.987 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 tier1 - - 94 0 0.00 63 34 35.05 NPIPB11 0 genome.wustl.edu 37 16 29395119 29395119 + Silent SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 29395119 29395119 C A SNP NPIPB11 ENST00000524087 human ensembl 74_37 -1 putative silent c.1134 p.R378 0.000 NULL NULL - no_errors NPIPB11 HGNC ENSG00000254206 tier1 - - 51 0 0.00 48 4 7.69 NPR2 0 genome.wustl.edu 37 9 35792472 35792472 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 35792472 35792472 C T SNP NPR2 ENST00000342694 human ensembl 74_37 +1 known missense c.67 p.R23W 0.991 superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR2 HGNC ENSG00000159899 tier1 - - 133 0 0.00 69 43 38.39 NPR3 0 genome.wustl.edu 37 5 32712514 32712514 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 32712514 32712514 G A SNP NPR3 ENST00000265074 human ensembl 74_37 +1 known missense c.632 p.R211Q 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_Ntpep_rcpt - no_errors NPR3 HGNC ENSG00000113389 tier1 - - 56 0 0.00 43 12 21.82 NPRL3 0 genome.wustl.edu 37 16 162652 162652 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 162652 162652 C T SNP NPRL3 ENST00000399953 human ensembl 74_37 -1 known silent c.516 p.A172 0.194 pfam_NPR3 pfam_NPR3,superfamily_Galactose-bd-like - no_errors NPRL3 HGNC ENSG00000103148 tier1 - - 32 0 0.00 14 8 36.36 NPY 0 genome.wustl.edu 37 7 24324976 24324976 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 24324976 24324976 C T SNP NPY ENST00000242152 human ensembl 74_37 +1 known silent c.117 p.D39 1.000 pfam_Pancreatic_hormone-like,smart_Pancreatic_hormone-like,pfscan_Pancreatic_hormone-like,prints_Pancreatic_hormone-like pfam_Pancreatic_hormone-like,smart_Pancreatic_hormone-like,pfscan_Pancreatic_hormone-like,prints_Pancreatic_hormone-like - no_errors NPY HGNC ENSG00000122585 tier1 - - 37 0 0.00 19 19 50.00 NPY2R 0 genome.wustl.edu 37 4 156135406 156135406 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 156135406 156135406 G A SNP NPY2R ENST00000329476 human ensembl 74_37 +1 known silent c.315 p.P105 0.846 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPFF_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors NPY2R HGNC ENSG00000185149 tier1 - - 57 0 0.00 29 22 43.14 NQO1 0 genome.wustl.edu 37 16 69752048 69752048 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 69752048 69752048 G A SNP NQO1 ENST00000320623 human ensembl 74_37 -1 known missense c.281 p.A94V 0.871 pfam_Flavodoxin_fold,pfam_FMN_Rdtase-like pfam_Flavodoxin_fold,pfam_FMN_Rdtase-like - no_errors NQO1 HGNC ENSG00000181019 tier1 - - 43 0 0.00 7 18 72.00 NR2C2AP 0 genome.wustl.edu 37 19 19312794 19312794 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 19312794 19312794 G T SNP NR2C2AP ENST00000331552 human ensembl 74_37 -1 known silent c.360 p.A120 0.692 superfamily_Galactose-bd-like pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like - no_errors NR2C2AP HGNC ENSG00000184162 tier1 - - 56 0 0.00 33 4 10.81 NR4A2 0 genome.wustl.edu 37 2 157182418 157182418 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 157182418 157182418 C - DEL NR4A2 ENST00000539077 human ensembl 74_37 -1 known frame_shift_del c.1668 p.L557fs 0.001 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_NURR_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A2 HGNC ENSG00000153234 tier1 18 0 0.00 16 6 27.27 NR4A2 0 genome.wustl.edu 37 2 157185943 157185943 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 157185943 157185943 C T SNP NR4A2 ENST00000539077 human ensembl 74_37 -1 known silent c.789 p.P263 1.000 prints_Retinoic_acid_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A2 HGNC ENSG00000153234 tier1 - - 82 0 0.00 29 25 46.30 NRAS 0 genome.wustl.edu 37 1 115252224 115252224 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 115252224 115252224 A G SNP NRAS ENST00000369535 human ensembl 74_37 -1 known missense c.416 p.I139T 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors NRAS HGNC ENSG00000213281 tier1 - - 137 0 0.00 152 10 6.13 NRCAM 0 genome.wustl.edu 37 7 107790216 107790216 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 107790216 107790216 G A SNP NRCAM ENST00000522550 human ensembl 74_37 -1 known rna NULL NULL 0.586 - - - no_errors NRCAM HGNC ENSG00000091129 tier1 - - 14 0 0.00 8 7 46.67 NRD1 0 genome.wustl.edu 37 1 52257299 52257299 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 52257299 52257299 C T SNP NRD1 ENST00000354831 human ensembl 74_37 -1 known missense c.3115 p.G1039R 1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors NRD1 HGNC ENSG00000078618 tier1 - - 67 0 0.00 39 27 40.91 NRD1 0 genome.wustl.edu 37 1 52290994 52290994 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 52290994 52290994 G T SNP NRD1 ENST00000354831 human ensembl 74_37 -1 known missense c.1205 p.A402D 1.000 pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors NRD1 HGNC ENSG00000078618 tier1 - - 72 0 0.00 67 4 5.63 NRXN2 0 genome.wustl.edu 37 11 64453270 64453270 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 64453270 64453270 C T SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known missense c.1000 p.A334T 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 tier1 - - 97 0 0.00 57 37 39.36 NSD1 0 genome.wustl.edu 37 5 176721015 176721015 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 176721015 176721015 G - DEL NSD1 ENST00000439151 human ensembl 74_37 +1 known frame_shift_del c.6646 p.E2217fs 1.000 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 tier1 70 0 0.00 33 20 37.74 NSD1 0 genome.wustl.edu 37 5 176721680 176721680 + Silent SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 176721680 176721680 A G SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known silent c.7311 p.K2437 0.996 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 tier1 - - 18 0 0.00 22 10 30.30 NSMAF 0 genome.wustl.edu 37 8 59511868 59511868 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 59511868 59511868 G T SNP NSMAF ENST00000427130 human ensembl 74_37 -1 known missense c.1601 p.S534Y 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NSMAF HGNC ENSG00000035681 tier1 - - 47 0 0.00 60 5 7.69 NTAN1 0 genome.wustl.edu 37 16 15131990 15131990 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 15131990 15131990 T - DEL NTAN1 ENST00000287706 human ensembl 74_37 -1 known frame_shift_del c.831 p.K277fs 0.819 NULL NULL - no_errors NTAN1 HGNC ENSG00000157045 tier1 96 0 0.00 67 31 31.63 NTM 0 genome.wustl.edu 37 11 131240692 131240692 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 131240692 131240692 A - DEL NTM ENST00000477098 human ensembl 74_37 +1 putative rna NULL NULL 0.619 - - - no_errors NTM HGNC ENSG00000182667 tier1 37 0 0.00 18 18 50.00 NTM 0 genome.wustl.edu 37 11 131530880 131530880 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 131530880 131530880 A - DEL NTM ENST00000477098 human ensembl 74_37 +1 putative rna NULL NULL 0.999 - - - no_errors NTM HGNC ENSG00000182667 tier1 18 0 0.00 30 5 14.29 NTM 0 genome.wustl.edu 37 11 132205624 132205626 + RNA DEL TTT TTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 132205624 132205626 TTT - DEL NTM ENST00000474900 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.011:0.009 - - - no_errors NTM HGNC ENSG00000182667 tier1 30 0 0.00 18 7 28.00 NTM 0 genome.wustl.edu 37 11 132206462 132206462 + RNA SNP A A T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 132206462 132206462 A T SNP NTM ENST00000474900 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors NTM HGNC ENSG00000182667 tier1 - - 41 0 0.00 32 13 28.89 NTN3 0 genome.wustl.edu 37 16 2522299 2522299 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 2522299 2522299 C - DEL NTN3 ENST00000293973 human ensembl 74_37 +1 known frame_shift_del c.597 p.P201fs 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain - no_errors NTN3 HGNC ENSG00000162068 tier1 53 0 0.00 31 13 29.55 NTRK3 0 genome.wustl.edu 37 15 88576214 88576214 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 88576214 88576214 C T SNP NTRK3 ENST00000360948 human ensembl 74_37 -1 known missense c.1459 p.G487S 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC ENSG00000140538 tier1 - - 65 0 0.00 35 16 31.37 NUAK1 0 genome.wustl.edu 37 12 106460763 106460763 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 106460763 106460763 G A SNP NUAK1 ENST00000261402 human ensembl 74_37 -1 known silent c.1803 p.C601 0.973 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NUAK1 HGNC ENSG00000074590 tier1 rs149780357 - 36 0 0.00 31 20 39.22 NUAK2 0 genome.wustl.edu 37 1 205273406 205273406 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 205273406 205273406 G T SNP NUAK2 ENST00000367157 human ensembl 74_37 -1 known missense c.1059 p.F353L 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NUAK2 HGNC ENSG00000163545 tier1 - - 37 0 0.00 24 5 17.24 NUB1 0 genome.wustl.edu 37 7 151046320 151046320 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 151046320 151046320 A - DEL NUB1 ENST00000568733 human ensembl 74_37 +1 known frame_shift_del c.351 p.D120fs 0.301 NULL pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors NUB1 HGNC ENSG00000013374 tier1 49 0 0.00 24 13 35.14 NUBPL 0 genome.wustl.edu 37 14 32031398 32031398 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 32031398 32031398 G T SNP NUBPL ENST00000281081 human ensembl 74_37 +1 known missense c.233 p.G78V 1.000 pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1,superfamily_P-loop_NTPase pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1,superfamily_P-loop_NTPase - no_errors NUBPL HGNC ENSG00000151413 24 0 0.00 26 4 13.33 NUDC 0 genome.wustl.edu 37 1 27272047 27272047 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 27272047 27272047 G A SNP NUDC ENST00000484772 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NUDC HGNC ENSG00000090273 tier1 - - 59 0 0.00 41 15 26.79 NUMA1 0 genome.wustl.edu 37 11 71730662 71730662 + Silent SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 71730662 71730662 A G SNP NUMA1 ENST00000393695 human ensembl 74_37 -1 known silent c.462 p.A154 1.000 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 tier1 - - 55 0 0.00 29 17 36.96 NUP107 0 genome.wustl.edu 37 12 69126366 69126366 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 69126366 69126366 A - DEL NUP107 ENST00000401003 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NUP107 HGNC ENSG00000111581 tier1 36 0 0.00 16 23 58.97 NUP133 0 genome.wustl.edu 37 1 229586482 229586483 + RNA INS - - TT TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 229586482 229586483 - TT INS NUP133 ENST00000485119 human ensembl 74_37 -1 known rna NULL NULL 0.004:0.002 - - - no_errors NUP133 HGNC ENSG00000069248 tier1 11 0 0.00 10 2 16.67 NUP210 0 genome.wustl.edu 37 3 13361314 13361314 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 13361314 13361314 C T SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known missense c.5332 p.A1778T 0.987 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 tier1 - - 91 0 0.00 37 33 47.14 NUP210 0 genome.wustl.edu 37 3 13417860 13417860 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 13417860 13417860 G A SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known silent c.1224 p.Y408 0.998 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 tier1 - - 125 0 0.00 78 54 40.91 NUP210L 0 genome.wustl.edu 37 1 153965404 153965404 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 153965404 153965404 A - DEL NUP210L ENST00000368559 human ensembl 74_37 -1 known frame_shift_del c.5574 p.F1858fs 0.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 tier1 66 0 0.00 67 26 27.96 NUP210L 0 genome.wustl.edu 37 1 153965412 153965412 + Splice_Site SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 153965412 153965412 C A SNP NUP210L ENST00000368559 human ensembl 74_37 -1 known splice_site c.5567-1 e40-1 0.930 - - - no_errors NUP210L HGNC ENSG00000143552 tier1 - - 58 0 0.00 65 30 31.25 NUP214 0 genome.wustl.edu 37 9 134072693 134072693 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 134072693 134072693 G T SNP NUP214 ENST00000451030 human ensembl 74_37 +1 known missense c.3815 p.S1272I 0.019 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 62 0 0.00 59 4 6.25 NUP88 0 genome.wustl.edu 37 17 5294889 5294889 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 5294889 5294889 C A SNP NUP88 ENST00000573584 human ensembl 74_37 -1 known missense c.1476 p.W492C 0.995 pfam_Nucleoporin_Nup88 pfam_Nucleoporin_Nup88 - no_errors NUP88 HGNC ENSG00000108559 tier1 - - 73 0 0.00 33 23 40.35 NUPL2 0 genome.wustl.edu 37 7 23224773 23224773 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 23224773 23224773 G - DEL NUPL2 ENST00000258742 human ensembl 74_37 +1 known frame_shift_del c.206 p.G71fs 1.000 NULL smart_Znf_CCCH - no_errors NUPL2 HGNC ENSG00000136243 tier1 56 0 0.00 25 6 19.35 NYNRIN 0 genome.wustl.edu 37 14 24885036 24885036 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 24885036 24885036 G A SNP NYNRIN ENST00000382554 human ensembl 74_37 +1 known missense c.4081 p.G1361S 0.996 superfamily_RNaseH-like_dom pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 tier1 - - 76 0 0.00 42 19 30.65 OAS2 0 genome.wustl.edu 37 12 113442830 113442830 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 113442830 113442830 A - DEL OAS2 ENST00000342315 human ensembl 74_37 +1 known frame_shift_del c.1271 p.N426fs 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 ENSG00000111335 tier1 26 0 0.00 26 16 38.10 OAT 0 genome.wustl.edu 37 10 126091634 126091634 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 126091634 126091634 A - DEL OAT ENST00000471127 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors OAT HGNC ENSG00000065154 tier1 50 0 0.00 27 12 30.77 OBSCN 0 genome.wustl.edu 37 1 228402129 228402129 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 228402129 228402129 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.1513 p.V505M 1.000 superfamily_Fibronectin_type3,smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 124 0 0.00 95 26 21.49 OBSCN 0 genome.wustl.edu 37 1 228552687 228552687 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 228552687 228552687 C - DEL OBSCN ENST00000422127 human ensembl 74_37 +1 known frame_shift_del c.18847 p.P6284fs 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 122 0 0.00 101 31 23.48 OBSCN 0 genome.wustl.edu 37 1 228560743 228560743 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 228560743 228560743 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.22264 p.V7422M 0.792 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 32 0 0.00 19 9 32.14 OBSL1 0 genome.wustl.edu 37 2 220416864 220416864 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 220416864 220416864 C T SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.5383 p.A1795T 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 tier1 - - 19 0 0.00 9 9 50.00 OBSL1 0 genome.wustl.edu 37 2 220432447 220432447 + Missense_Mutation SNP T T G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 220432447 220432447 T G SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.1527 p.R509S 0.981 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 tier1 - - 80 0 0.00 34 26 43.33 OCIAD1 0 genome.wustl.edu 37 4 48859372 48859372 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 48859372 48859372 A - DEL OCIAD1 ENST00000264312 human ensembl 74_37 +1 known frame_shift_del c.690 p.E233fs 0.300 NULL pfam_OCIA - no_errors OCIAD1 HGNC ENSG00000109180 tier1 75 0 0.00 37 16 30.19 OCIAD2 0 genome.wustl.edu 37 4 48887522 48887522 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 48887522 48887522 G T SNP OCIAD2 ENST00000508632 human ensembl 74_37 -1 known missense c.444 p.D148E 0.000 NULL pfam_OCIA - no_errors OCIAD2 HGNC ENSG00000145247 tier1 - - 48 0 0.00 48 12 20.00 OCLN 0 genome.wustl.edu 37 5 68805316 68805316 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 68805316 68805316 C T SNP OCLN ENST00000355237 human ensembl 74_37 +1 known silent c.399 p.D133 0.998 pfam_Marvel,pirsf_Occludin pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel,pirsf_Occludin,prints_Occludin - no_errors OCLN HGNC ENSG00000197822 tier1 - - 100 0 0.00 46 35 43.21 OCSTAMP 0 genome.wustl.edu 37 20 45174347 45174347 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 45174347 45174347 C T SNP OCSTAMP ENST00000279028 human ensembl 74_37 -1 known silent c.666 p.A222 0.000 NULL pfam_DC_STAMP-like - no_errors OCSTAMP HGNC ENSG00000149635 tier1 - - 30 0 0.00 10 11 52.38 OGFOD1 0 genome.wustl.edu 37 16 56492432 56492433 + Frame_Shift_Ins INS - - T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 56492432 56492433 - T INS OGFOD1 ENST00000565682 human ensembl 74_37 +1 known frame_shift_ins c.308_309 p.S106fs 0.001:0.001 NULL NULL - no_errors OGFOD1 HGNC ENSG00000087263 tier1 74 0 0.00 55 29 34.52 OGG1 0 genome.wustl.edu 37 3 9799001 9799001 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 9799001 9799001 G - DEL OGG1 ENST00000302003 human ensembl 74_37 +1 known frame_shift_del c.1222 p.G409fs 0.000 NULL pfam_OGG_N,pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,tigrfam_Ogg - no_errors OGG1 HGNC ENSG00000114026 tier1 12 0 0.00 13 3 18.75 OGN 0 genome.wustl.edu 37 9 95155368 95155368 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 95155368 95155368 G A SNP OGN ENST00000262551 human ensembl 74_37 -1 known missense c.427 p.P143S 0.999 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors OGN HGNC ENSG00000106809 tier1 - - 82 0 0.00 54 31 36.47 OLFML2B 0 genome.wustl.edu 37 1 161953561 161953561 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 161953561 161953561 G T SNP OLFML2B ENST00000294794 human ensembl 74_37 -1 known silent c.2157 p.S719 1.000 pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 tier1 - - 130 0 0.00 100 43 30.07 ONECUT1 0 genome.wustl.edu 37 15 53081749 53081749 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 53081749 53081749 C T SNP ONECUT1 ENST00000305901 human ensembl 74_37 -1 known silent c.333 p.P111 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors ONECUT1 HGNC ENSG00000169856 tier1 - - 85 0 0.00 34 22 39.29 ONECUT2 0 genome.wustl.edu 37 18 55103827 55103827 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 55103827 55103827 C T SNP ONECUT2 ENST00000491143 human ensembl 74_37 +1 known silent c.879 p.N293 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors ONECUT2 HGNC ENSG00000119547 tier1 - - 34 0 0.00 18 8 30.77 OPLAH 0 genome.wustl.edu 37 8 145109541 145109542 + Frame_Shift_Ins INS - - G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 145109541 145109542 - G INS OPLAH ENST00000426825 human ensembl 74_37 -1 known frame_shift_ins c.2609_2608 p.H870fs 1.000:1.000 pfam_Hydantoinase_B pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 tier1 56 0 0.00 49 7 12.50 OPN4 0 genome.wustl.edu 37 10 88421075 88421075 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 88421075 88421075 C T SNP OPN4 ENST00000372071 human ensembl 74_37 +1 known missense c.1036 p.P346S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opsin pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN4 HGNC ENSG00000122375 tier1 - - 35 0 0.00 23 4 14.81 OPRK1 0 genome.wustl.edu 37 8 54147421 54147421 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 54147421 54147421 G A SNP OPRK1 ENST00000265572 human ensembl 74_37 -1 known missense c.508 p.R170C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Opioid_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Kappa_opi_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OPRK1 HGNC ENSG00000082556 tier1 rs201421010 - 86 0 0.00 60 26 30.23 OPTN 0 genome.wustl.edu 37 10 13151192 13151192 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 13151192 13151192 C - DEL OPTN ENST00000263036 human ensembl 74_37 +1 known frame_shift_del c.70 p.H26fs 1.000 NULL pfam_NEMO_N - no_errors OPTN HGNC ENSG00000123240 tier1 25 0 0.00 9 5 35.71 OR10A7 0 genome.wustl.edu 37 12 55615174 55615174 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 55615174 55615174 C T SNP OR10A7 ENST00000326258 human ensembl 74_37 +1 known silent c.366 p.R122 0.992 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 OR10A7 HGNC ENSG00000179919 tier1 - - 79 0 0.00 79 5 5.95 OR10AG1 0 genome.wustl.edu 37 11 55735743 55735743 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 55735743 55735743 G T SNP OR10AG1 ENST00000312345 human ensembl 74_37 -1 known missense c.197 p.T66K 0.022 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 OR10AG1 HGNC ENSG00000174970 tier1 - - 38 0 0.00 24 15 38.46 OR10J1 0 genome.wustl.edu 37 1 159410055 159410055 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 159410055 159410055 G A SNP OR10J1 ENST00000423932 human ensembl 74_37 +1 known silent c.507 p.T169 0.004 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J1 HGNC ENSG00000196184 tier1 rs149860482 - 90 0 0.00 70 25 26.32 OR10X1 0 genome.wustl.edu 37 1 158549366 158549366 + Silent SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 158549366 158549366 A G SNP OR10X1 ENST00000368150 human ensembl 74_37 -1 known silent c.324 p.I108 0.982 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10X1 HGNC ENSG00000186400 tier1 - - 82 0 0.00 82 5 5.75 OR2A7 0 genome.wustl.edu 37 7 143956190 143956190 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 143956190 143956190 A 0 DEL OR2A7 ENST00000493325 human ensembl 74_37 -1 known frame_shift_del c.532 p.C178fs 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors OR2A7 HGNC ENSG00000243896 29 0 0.00 32 3 8.57 OR2L3 0 genome.wustl.edu 37 1 248224623 248224623 + Missense_Mutation SNP T T G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 248224623 248224623 T G SNP OR2L3 ENST00000359959 human ensembl 74_37 +1 known missense c.640 p.S214A 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L3 HGNC ENSG00000198128 tier1 - - 172 0 0.00 190 29 13.24 OR2L3 0 genome.wustl.edu 37 1 248224643 248224643 + Silent SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 248224643 248224643 T C SNP OR2L3 ENST00000359959 human ensembl 74_37 +1 known silent c.660 p.V220 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L3 HGNC ENSG00000198128 tier1 - - 166 0 0.00 178 39 17.97 OR2T33 0 genome.wustl.edu 37 1 248436945 248436945 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 248436945 248436945 A G SNP OR2T33 ENST00000318021 human ensembl 74_37 -1 known missense c.172 p.Y58H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T33 HGNC ENSG00000177212 tier1 - - 107 0 0.00 107 34 24.11 OR4M1 0 genome.wustl.edu 37 14 20248642 20248642 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 20248642 20248642 A G SNP OR4M1 ENST00000315957 human ensembl 74_37 +1 known missense c.161 p.H54R 0.570 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M1 HGNC ENSG00000176299 tier1 - - 218 0 0.00 149 46 23.59 OR4P4 0 genome.wustl.edu 37 11 55406142 55406142 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 55406142 55406142 T - DEL OR4P4 ENST00000314612 human ensembl 74_37 +1 known frame_shift_del c.309 p.F105fs 0.097 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 OR4P4 HGNC ENSG00000181927 tier1 38 0 0.00 9 21 70.00 OR51A7 0 genome.wustl.edu 37 11 4928790 4928790 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 4928790 4928790 C T SNP OR51A7 ENST00000359350 human ensembl 74_37 +1 known missense c.191 p.A64V 0.801 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR51A7 HGNC ENSG00000176895 tier1 - - 40 0 0.00 17 12 41.38 OR51E2 0 genome.wustl.edu 37 11 4703475 4703475 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 4703475 4703475 A - DEL OR51E2 ENST00000396950 human ensembl 74_37 -1 known frame_shift_del c.467 p.F156fs 0.027 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51E2 HGNC ENSG00000167332 tier1 36 0 0.00 18 5 21.74 OR51G1 0 genome.wustl.edu 37 11 4944874 4944874 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 4944874 4944874 G A SNP OR51G1 ENST00000321961 human ensembl 74_37 -1 known silent c.696 p.S232 0.566 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51G1 HGNC ENSG00000176879 tier1 - - 52 0 0.00 36 23 38.98 OR51G2 0 genome.wustl.edu 37 11 4936759 4936759 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 4936759 4936759 C T SNP OR51G2 ENST00000322013 human ensembl 74_37 -1 known silent c.135 p.P45 0.585 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51G2 HGNC ENSG00000176893 tier1 - - 32 0 0.00 19 12 38.71 OR52A1 0 genome.wustl.edu 37 11 5173098 5173098 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 5173098 5173098 G T SNP OR52A1 ENST00000328942 human ensembl 74_37 -1 known silent c.502 p.R168 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52A1 HGNC ENSG00000182070 tier1 - - 30 0 0.00 23 3 11.54 OR52N5 0 genome.wustl.edu 37 11 5799652 5799652 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 5799652 5799652 A - DEL OR52N5 ENST00000317093 human ensembl 74_37 -1 known frame_shift_del c.213 p.F71fs 0.971 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR52N5 HGNC ENSG00000181009 tier1 13 0 0.00 3 13 81.25 OR5AR1 0 genome.wustl.edu 37 11 56431959 56431959 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 56431959 56431959 C T SNP OR5AR1 ENST00000302969 human ensembl 74_37 +1 known silent c.798 p.Y266 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AR1 HGNC ENSG00000172459 tier1 - - 44 0 0.00 32 18 36.00 OR5B12 0 genome.wustl.edu 37 11 58207226 58207226 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 58207226 58207226 G T SNP OR5B12 ENST00000302572 human ensembl 74_37 -1 known silent c.399 p.T133 0.135 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR5B12 HGNC ENSG00000172362 tier1 - - 87 0 0.00 81 40 33.06 OR5D14 0 genome.wustl.edu 37 11 55563149 55563149 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 55563149 55563149 A G SNP OR5D14 ENST00000335605 human ensembl 74_37 +1 known missense c.118 p.T40A 0.309 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D14 HGNC ENSG00000186113 tier1 - - 154 0 0.00 104 46 30.67 OR6C70 0 genome.wustl.edu 37 12 55863619 55863619 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 55863619 55863619 A - DEL OR6C70 ENST00000327335 human ensembl 74_37 -1 known frame_shift_del c.304 p.Y102fs 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C70 HGNC ENSG00000184954 tier1 24 0 0.00 26 17 39.53 OR6C70 0 genome.wustl.edu 37 12 55863764 55863764 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 55863764 55863764 G T SNP OR6C70 ENST00000327335 human ensembl 74_37 -1 known silent c.159 p.L53 0.963 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C70 HGNC ENSG00000184954 tier1 - - 26 0 0.00 41 4 8.89 OR6C76 0 genome.wustl.edu 37 12 55820521 55820521 + Nonsense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 55820521 55820521 C T SNP OR6C76 ENST00000328314 human ensembl 74_37 +1 known nonsense c.484 p.Q162* 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C76 HGNC ENSG00000185821 tier1 - - 100 0 0.00 55 45 45.00 OR7C2 0 genome.wustl.edu 37 19 15052470 15052470 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 15052470 15052470 C T SNP OR7C2 ENST00000248072 human ensembl 74_37 +1 known missense c.170 p.T57I 0.003 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7C2 HGNC ENSG00000127529 tier1 rs139042107 - 71 0 0.00 42 25 37.31 OR7D2 0 genome.wustl.edu 37 19 9296598 9296598 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 9296598 9296598 G T SNP OR7D2 ENST00000344248 human ensembl 74_37 +1 known silent c.141 p.L47 0.993 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7D2 HGNC ENSG00000188000 tier1 - - 81 0 0.00 75 4 5.06 OR7E14P 0 genome.wustl.edu 37 11 17074030 17074030 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 17074030 17074030 C T SNP OR7E14P ENST00000530490 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors OR7E14P HGNC ENSG00000184669 tier1 - - 136 0 0.00 89 44 33.08 OR8G1 0 genome.wustl.edu 37 11 124120822 124120822 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 124120822 124120822 G A SNP OR8G1 ENST00000341493 human ensembl 74_37 +1 known missense c.400 p.V134I 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8G1 HGNC ENSG00000197849 tier1 - - 164 0 0.00 79 63 44.37 ORAI3 0 genome.wustl.edu 37 16 30965124 30965124 + Nonsense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 30965124 30965124 G T SNP ORAI3 ENST00000318663 human ensembl 74_37 +1 known nonsense c.847 p.E283* 1.000 pfam_CRAC_channel pfam_CRAC_channel - no_errors ORAI3 HGNC ENSG00000175938 tier1 - - 41 0 0.00 19 4 17.39 OSBPL1A 0 genome.wustl.edu 37 18 21745097 21745097 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 21745097 21745097 T - DEL OSBPL1A ENST00000319481 human ensembl 74_37 -1 known frame_shift_del c.2682 p.K894fs 0.958 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 tier1 51 0 0.00 33 27 45.00 OSBPL1A 0 genome.wustl.edu 37 18 21761133 21761133 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 21761133 21761133 G T SNP OSBPL1A ENST00000319481 human ensembl 74_37 -1 known silent c.1788 p.L596 0.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 tier1 - - 39 0 0.00 35 6 14.63 OSBPL2 0 genome.wustl.edu 37 20 60854257 60854258 + Frame_Shift_Ins INS - - C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 60854257 60854258 - C INS OSBPL2 ENST00000313733 human ensembl 74_37 +1 known frame_shift_ins c.536_537 p.I182fs 1.000:1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd - no_errors OSBPL2 HGNC ENSG00000130703 tier1 80 0 0.00 59 31 34.44 OSBPL6 0 genome.wustl.edu 37 2 179201135 179201135 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 179201135 179201135 G A SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known silent c.702 p.S234 0.020 NULL pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 tier1 - - 20 0 0.00 8 10 55.56 OSBPL7 0 genome.wustl.edu 37 17 45885767 45885767 + Splice_Site SNP T T G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 45885767 45885767 T G SNP OSBPL7 ENST00000007414 human ensembl 74_37 -1 known splice_site c.2421-2 e22-2 1.000 - - - no_errors OSBPL7 HGNC ENSG00000006025 tier1 - - 56 0 0.00 36 22 37.93 OSCAR 0 genome.wustl.edu 37 19 54600285 54600285 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 54600285 54600285 G T SNP OSCAR ENST00000356532 human ensembl 74_37 -1 known silent c.249 p.S83 0.000 smart_Ig_sub smart_Ig_sub - no_errors OSCAR HGNC ENSG00000170909 48 0 0.00 43 4 8.51 OTOF 0 genome.wustl.edu 37 2 26741944 26741944 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 26741944 26741944 C T SNP OTOF ENST00000272371 human ensembl 74_37 -1 known silent c.261 p.K87 1.000 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 34 0 0.00 19 2 9.52 OTOG 0 genome.wustl.edu 37 11 17663676 17663676 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 17663676 17663676 C T SNP OTOG ENST00000399391 human ensembl 74_37 +1 known silent c.8334 p.P2778 0.690 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom - no_errors OTOG HGNC ENSG00000188162 tier1 - - 72 0 0.00 49 4 7.55 OTUD5 0 genome.wustl.edu 37 X 48814242 48814242 + Splice_Site SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 48814242 48814242 C T SNP OTUD5 ENST00000484499 human ensembl 74_37 -1 known splice_site c.NULL NULL 1.000 - - - no_errors OTUD5 HGNC ENSG00000068308 tier1 - - 22 0 0.00 7 12 63.16 OTX1 0 genome.wustl.edu 37 2 63281286 63281286 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 63281286 63281286 C T SNP OTX1 ENST00000282549 human ensembl 74_37 +1 known missense c.202 p.R68W 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Otx_TF_C,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Otx1_TF,prints_Otx_TF - no_errors OTX1 HGNC ENSG00000115507 tier1 - - 61 0 0.00 35 32 47.76 PA2G4 0 genome.wustl.edu 37 12 56505296 56505296 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 56505296 56505296 A - DEL PA2G4 ENST00000303305 human ensembl 74_37 +1 known frame_shift_del c.1102 p.K369fs 1.000 tigrfam_Pap_1 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1 - no_errors PA2G4 HGNC ENSG00000170515 tier1 40 0 0.00 17 10 37.04 PABPC3 0 genome.wustl.edu 37 13 25671275 25671275 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 25671275 25671275 G A SNP PABPC3 ENST00000281589 human ensembl 74_37 +1 known silent c.939 p.A313 0.996 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 PABPC3 HGNC ENSG00000151846 tier1 - - 66 0 0.00 62 16 20.25 PABPN1L 0 genome.wustl.edu 37 16 88933000 88933001 + Frame_Shift_Ins INS - - G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 88933000 88933001 - G INS PABPN1L ENST00000427766 human ensembl 74_37 -1 known frame_shift_ins c.15_14 p.S6fs 0.028:0.047 NULL NULL - no_errors PABPN1L HGNC ENSG00000205022 tier1 49 0 0.00 13 11 45.83 PACSIN2 0 genome.wustl.edu 37 22 43287045 43287045 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 43287045 43287045 G T SNP PACSIN2 ENST00000263246 human ensembl 74_37 -1 known missense c.361 p.H121N 1.000 NULL pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PACSIN2 HGNC ENSG00000100266 tier1 - - 104 0 0.00 76 4 5.00 PAFAH1B2 0 genome.wustl.edu 37 11 117031887 117031887 + Silent SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 117031887 117031887 T C SNP PAFAH1B2 ENST00000527958 human ensembl 74_37 +1 known silent c.198 p.L66 0.997 pfam_Lipase_GDSL pfam_Lipase_GDSL - no_errors PAFAH1B2 HGNC ENSG00000168092 tier1 - - 91 0 0.00 71 39 35.14 PAIP2B 0 genome.wustl.edu 37 2 71417056 71417056 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 71417056 71417056 G T SNP PAIP2B ENST00000244221 human ensembl 74_37 -1 known missense c.234 p.D78E 1.000 NULL pfam_Ataxin-2_C - no_errors PAIP2B HGNC ENSG00000124374 tier1 - - 52 0 0.00 51 4 7.27 PAN2 0 genome.wustl.edu 37 12 56720180 56720180 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 56720180 56720180 C T SNP PAN2 ENST00000425394 human ensembl 74_37 -1 known missense c.1276 p.V426M 1.000 NULL pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19/C67,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19/C67 - no_errors PAN2 HGNC ENSG00000135473 tier1 rs140591449 - 97 0 0.00 40 27 40.30 PANK4 0 genome.wustl.edu 37 1 2450662 2450662 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 2450662 2450662 C T SNP PANK4 ENST00000378466 human ensembl 74_37 -1 known missense c.955 p.V319M 0.994 pfam_Type_II_PanK,pirsf_PanK_long,tigrfam_Type_II_PanK pfam_Type_II_PanK,pfam_DUF89,superfamily_DUF89,pirsf_PanK_long,tigrfam_Type_II_PanK - no_errors PANK4 HGNC ENSG00000157881 tier1 - - 75 0 0.00 31 29 48.33 PAPD5 0 genome.wustl.edu 37 16 50248153 50248153 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 50248153 50248153 A - DEL PAPD5 ENST00000436909 human ensembl 74_37 +1 known frame_shift_del c.739 p.T248fs 1.000 pfam_Nucleotidyltransferase pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD5 HGNC ENSG00000121274 tier1 48 0 0.00 41 22 34.92 PAPD5 0 genome.wustl.edu 37 16 50257096 50257096 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 50257096 50257096 G A SNP PAPD5 ENST00000436909 human ensembl 74_37 +1 known silent c.1134 p.R378 1.000 NULL pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD5 HGNC ENSG00000121274 tier1 - - 43 0 0.00 27 19 40.43 PAPD5 0 genome.wustl.edu 37 16 50263455 50263455 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 50263455 50263455 A - DEL PAPD5 ENST00000573002 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors PAPD5 HGNC ENSG00000121274 tier1 46 0 0.00 22 17 43.59 PAPD5 0 genome.wustl.edu 37 16 50264212 50264213 + RNA DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 50264212 50264213 AA - DEL PAPD5 ENST00000573002 human ensembl 74_37 +1 known rna NULL NULL 0.053:0.065 - - - no_errors PAPD5 HGNC ENSG00000121274 tier1 13 0 0.00 11 2 15.38 PAPLN 0 genome.wustl.edu 37 14 73720568 73720568 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 73720568 73720568 G A SNP PAPLN ENST00000427855 human ensembl 74_37 +1 known missense c.1201 p.V401M 0.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m - no_errors PAPLN HGNC ENSG00000100767 tier1 - - 70 0 0.00 43 31 41.89 PAPLN 0 genome.wustl.edu 37 14 73729128 73729128 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 73729128 73729128 C T SNP PAPLN ENST00000427855 human ensembl 74_37 +1 known silent c.2316 p.F772 0.968 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m - no_errors PAPLN HGNC ENSG00000100767 tier1 rs144000569 - 74 0 0.00 38 25 39.68 PAPPA2 0 genome.wustl.edu 37 1 176708821 176708821 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 176708821 176708821 C T SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known silent c.3858 p.G1286 0.516 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 tier1 - - 64 0 0.00 53 23 30.26 PARP1 0 genome.wustl.edu 37 1 226549886 226549889 + RNA DEL TTTT TTTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTTT TTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 226549886 226549889 TTTT - DEL PARP1 ENST00000491816 human ensembl 74_37 -1 known rna NULL NULL 0.004:0.004:0.004:0.004 - - - no_errors PARP1 HGNC ENSG00000143799 tier1 34 0 0.00 38 7 15.56 PARP12 0 genome.wustl.edu 37 7 139741628 139741628 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 139741628 139741628 G T SNP PARP12 ENST00000263549 human ensembl 74_37 -1 known missense c.998 p.S333Y 0.000 pfscan_WWE-dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Znf_CCCH,smart_Znf_CCCH,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP12 HGNC ENSG00000059378 tier1 - - 56 0 0.00 50 4 7.41 PARP6 0 genome.wustl.edu 37 15 72552881 72552881 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 72552881 72552881 G - DEL PARP6 ENST00000287196 human ensembl 74_37 -1 known frame_shift_del c.694 p.Q232fs 1.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP6 HGNC ENSG00000137817 tier1 72 0 0.00 51 6 10.53 PBRM1 0 genome.wustl.edu 37 3 52662977 52662977 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 52662977 52662977 G A SNP PBRM1 ENST00000296302 human ensembl 74_37 -1 known missense c.1376 p.A459V 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 tier1 - - 41 0 0.00 20 14 40.00 PBX1 0 genome.wustl.edu 37 1 164529145 164529145 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 164529145 164529145 G T SNP PBX1 ENST00000420696 human ensembl 74_37 +1 known missense c.86 p.G29V 1.000 NULL pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PBX1 HGNC ENSG00000185630 tier1 - - 39 0 0.00 43 17 28.33 PC 0 genome.wustl.edu 37 11 66616042 66616042 + RNA SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 66616042 66616042 A G SNP PC ENST00000528224 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors PC HGNC ENSG00000173599 tier1 - - 47 0 0.00 6 9 56.25 PCDH1 0 genome.wustl.edu 37 5 141243705 141243705 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 141243705 141243705 G A SNP PCDH1 ENST00000287008 human ensembl 74_37 -1 known missense c.2191 p.R731C 0.460 pfam_Cadherin,superfamily_Cadherin-like pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 tier1 - - 24 0 0.00 4 9 69.23 PCDH10 0 genome.wustl.edu 37 4 134071772 134071772 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 134071772 134071772 C T SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known silent c.477 p.Y159 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 tier1 - - 27 0 0.00 16 13 44.83 PCDH11X 0 genome.wustl.edu 37 X 91133118 91133118 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 91133118 91133118 C T SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.1879 p.P627S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 tier1 - - 24 0 0.00 2 24 92.31 PCDH15 0 genome.wustl.edu 37 10 55566542 55566542 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 55566542 55566542 C - DEL PCDH15 ENST00000414778 human ensembl 74_37 -1 known frame_shift_del c.4843 p.A1615fs 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 51 0 0.00 25 19 43.18 PCDH15 0 genome.wustl.edu 37 10 55568657 55568657 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 55568657 55568657 G T SNP PCDH15 ENST00000395445 human ensembl 74_37 -1 novel missense c.5153 p.P1718H 0.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 85 0 0.00 84 5 5.62 PCDH15 0 genome.wustl.edu 37 10 55719505 55719505 + Nonsense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 55719505 55719505 G A SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known nonsense c.3109 p.Q1037* 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 34 0 0.00 29 24 45.28 PCDH17 0 genome.wustl.edu 37 13 58207948 58207948 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 58207948 58207948 C T SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.1268 p.T423M 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 tier1 - - 52 0 0.00 52 15 22.39 PCDH17 0 genome.wustl.edu 37 13 58208562 58208562 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 58208562 58208562 G T SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.1882 p.V628L 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 22 0 0.00 24 3 11.11 PCDH19 0 genome.wustl.edu 37 X 99662505 99662505 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 99662505 99662505 G - DEL PCDH19 ENST00000373034 human ensembl 74_37 -1 known frame_shift_del c.1091 p.P364fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 tier1 14 0 0.00 2 6 75.00 PCDH7 0 genome.wustl.edu 37 4 30723074 30723074 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 30723074 30723074 G A SNP PCDH7 ENST00000543491 human ensembl 74_37 +1 known silent c.30 p.A10 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 tier1 - - 47 0 0.00 24 12 33.33 PCDH9 0 genome.wustl.edu 37 13 67800478 67800478 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 67800478 67800478 C T SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.2095 p.E699K 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 tier1 - - 68 0 0.00 53 19 26.39 PCDHA1 0 genome.wustl.edu 37 5 140167669 140167669 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 140167669 140167669 C T SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known silent c.1794 p.D598 0.949 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 PCDHA1 HGNC ENSG00000204970 tier1 - - 213 0 0.00 102 85 44.97 PCDHA11 0 genome.wustl.edu 37 5 140250122 140250122 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 140250122 140250122 G A SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known silent c.1434 p.A478 0.034 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 PCDHA11 HGNC ENSG00000249158 tier1 - - 242 0 0.00 131 93 41.52 PCDHA11 0 genome.wustl.edu 37 5 140250469 140250469 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 140250469 140250469 G A SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.1781 p.R594H 0.390 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 PCDHA11 HGNC ENSG00000249158 tier1 - - 181 0 0.00 102 52 33.77 PCDHA12 0 genome.wustl.edu 37 5 140256774 140256774 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 140256774 140256774 G A SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known missense c.1717 p.A573T 0.001 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 tier1 - - 225 0 0.00 98 73 42.69 PCDHA3 0 genome.wustl.edu 37 5 140180927 140180927 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 140180927 140180927 G A SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known missense c.145 p.A49T 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 tier1 - - 108 0 0.00 66 43 39.45 PCDHA3 0 genome.wustl.edu 37 5 140182156 140182156 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 140182156 140182156 C T SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known silent c.1374 p.S458 0.001 superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 tier1 - - 217 0 0.00 112 100 47.17 PCDHA8 0 genome.wustl.edu 37 5 140221181 140221181 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 140221181 140221181 G A SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known missense c.275 p.R92H 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 tier1 - - 145 0 0.00 75 54 41.86 PCDHA8 0 genome.wustl.edu 37 5 140223137 140223137 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 140223137 140223137 C T SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known missense c.2231 p.A744V 0.021 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 tier1 - - 75 0 0.00 40 38 48.72 PCDHA9 0 genome.wustl.edu 37 5 140229984 140229984 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 140229984 140229984 G A SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known missense c.1904 p.R635H 0.943 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 PCDHA9 HGNC ENSG00000204961 tier1 - - 149 0 0.00 76 53 41.09 PCDHB13 0 genome.wustl.edu 37 5 140595235 140595235 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 140595235 140595235 T C SNP PCDHB13 ENST00000341948 human ensembl 74_37 +1 known missense c.1540 p.F514L 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC ENSG00000187372 tier1 - - 201 0 0.00 165 9 5.17 PCDHB4 0 genome.wustl.edu 37 5 140502487 140502487 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 140502487 140502487 A - DEL PCDHB4 ENST00000194152 human ensembl 74_37 +1 known frame_shift_del c.907 p.K305fs 0.078 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 tier1 22 0 0.00 13 7 35.00 PCDHB4 0 genome.wustl.edu 37 5 140503236 140503236 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 140503236 140503236 C T SNP PCDHB4 ENST00000194152 human ensembl 74_37 +1 known silent c.1656 p.D552 0.843 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 tier1 - - 139 0 0.00 86 61 41.50 PCDHB8 0 genome.wustl.edu 37 5 140559277 140559277 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 140559277 140559277 C T SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known silent c.1662 p.D554 0.988 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 209 0 0.00 144 9 5.88 PCDHGA1 0 genome.wustl.edu 37 5 140712338 140712338 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 140712338 140712338 C T SNP PCDHGA1 ENST00000517417 human ensembl 74_37 +1 known missense c.2087 p.A696V 0.999 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC ENSG00000204956 tier1 - - 129 0 0.00 70 70 50.00 PCDHGA11 0 genome.wustl.edu 37 5 140801619 140801619 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 140801619 140801619 C T SNP PCDHGA11 ENST00000398587 human ensembl 74_37 +1 known silent c.825 p.N275 0.570 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 tier1 - - 38 0 0.00 38 13 25.49 PCDHGA11 0 genome.wustl.edu 37 5 140801720 140801721 + Frame_Shift_Ins INS - - T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 140801720 140801721 - T INS PCDHGA11 ENST00000398587 human ensembl 74_37 +1 known frame_shift_ins c.926_927 p.E311fs 1.000:1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 tier1 34 0 0.00 35 10 22.22 PCDHGA11 0 genome.wustl.edu 37 5 140802149 140802149 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 140802149 140802149 T - DEL PCDHGA11 ENST00000398587 human ensembl 74_37 +1 known frame_shift_del c.1355 p.P454fs 0.000 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 tier1 58 0 0.00 32 16 33.33 PCDHGA12 0 genome.wustl.edu 37 5 140810542 140810542 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 140810542 140810542 G A SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known silent c.216 p.T72 0.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 tier1 - - 34 0 0.00 20 18 46.15 PCDHGA5 0 genome.wustl.edu 37 5 140744613 140744613 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 140744613 140744613 C T SNP PCDHGA5 ENST00000518069 human ensembl 74_37 +1 known missense c.716 p.A239V 0.174 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 tier1 - - 26 0 0.00 12 7 36.84 PCDHGA9 0 genome.wustl.edu 37 5 140784404 140784404 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 140784404 140784404 G A SNP PCDHGA9 ENST00000573521 human ensembl 74_37 +1 known missense c.1885 p.A629T 0.011 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA9 HGNC ENSG00000261934 tier1 - - 104 0 0.00 61 37 37.76 PCDHGB3 0 genome.wustl.edu 37 5 140750891 140750892 + Frame_Shift_Del DEL AG AG - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 140750891 140750892 AG - DEL PCDHGB3 ENST00000576222 human ensembl 74_37 +1 known frame_shift_del c.930_931 p.D313fs 0.133:0.069 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB3 HGNC ENSG00000262209 tier1 48 0 0.00 25 18 41.86 PCDHGC3 0 genome.wustl.edu 37 5 140857922 140857922 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 140857922 140857922 G A SNP PCDHGC3 ENST00000308177 human ensembl 74_37 +1 known missense c.2239 p.V747M 0.884 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC3 HGNC ENSG00000240184 tier1 - - 41 0 0.00 27 11 28.95 PCLO 0 genome.wustl.edu 37 7 82791762 82791762 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 82791762 82791762 G A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.147 p.S49 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 145 0 0.00 65 41 38.68 PCNT 0 genome.wustl.edu 37 21 47863768 47863768 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 47863768 47863768 C - DEL PCNT ENST00000359568 human ensembl 74_37 +1 known frame_shift_del c.9746 p.P3251fs 0.023 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 tier1 98 0 0.00 37 25 40.32 PCNXL2 0 genome.wustl.edu 37 1 233134043 233134043 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 233134043 233134043 G A SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known silent c.5745 p.G1915 0.000 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 tier1 - - 39 0 0.00 14 17 54.84 PCNXL2 0 genome.wustl.edu 37 1 233337948 233337949 + Frame_Shift_Del DEL TT TT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 233337948 233337949 TT - DEL PCNXL2 ENST00000430153 human ensembl 74_37 -1 known frame_shift_del c.809_808 p.K270fs 0.000:0.005 NULL NULL - no_errors PCNXL2 HGNC ENSG00000135749 tier1 79 0 0.00 39 26 40.00 PCNXL3 0 genome.wustl.edu 37 11 65403715 65403715 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 65403715 65403715 G A SNP PCNXL3 ENST00000355703 human ensembl 74_37 +1 known missense c.5530 p.G1844S 0.338 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 tier1 - - 45 0 0.00 25 18 40.91 PCNXL4 0 genome.wustl.edu 37 14 60591260 60591260 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 60591260 60591260 G A SNP PCNXL4 ENST00000404681 human ensembl 74_37 +1 known missense c.2371 p.A791T 0.000 NULL pfam_Pecanex - no_errors PCNXL4 HGNC ENSG00000126773 tier1 - - 15 0 0.00 12 12 50.00 PCSK9 0 genome.wustl.edu 37 1 55521773 55521773 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 55521773 55521773 C T SNP PCSK9 ENST00000302118 human ensembl 74_37 +1 known missense c.907 p.R303C 0.669 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_Inhibitor_I9,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK9 HGNC ENSG00000169174 35 0 0.00 22 9 29.03 PDCD1LG2 0 genome.wustl.edu 37 9 5557753 5557756 + Splice_Site DEL GTAA GTAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 GTAA GTAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 5557753 5557756 GTAA - DEL PDCD1LG2 ENST00000397747 human ensembl 74_37 +1 known splice_site_del c.766+1_766+1 e4+1 1.000:1.000:0.997:0.998 - - - no_errors PDCD1LG2 HGNC ENSG00000197646 tier1 66 0 0.00 25 11 30.56 PDCL 0 genome.wustl.edu 37 9 125582521 125582521 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 125582521 125582521 C T SNP PDCL ENST00000259467 human ensembl 74_37 -1 known missense c.749 p.R250H 1.000 pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,prints_Phosducin - no_errors PDCL HGNC ENSG00000136940 tier1 - - 23 0 0.00 16 10 38.46 PDE4B 0 genome.wustl.edu 37 1 66838073 66838073 + Missense_Mutation SNP T T G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 66838073 66838073 T G SNP PDE4B ENST00000329654 human ensembl 74_37 +1 known missense c.1923 p.I641M 1.000 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC ENSG00000184588 tier1 - - 50 0 0.00 20 16 44.44 PDE4C 0 genome.wustl.edu 37 19 18330172 18330172 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 18330172 18330172 C T SNP PDE4C ENST00000355502 human ensembl 74_37 -1 known missense c.838 p.A280T 0.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4C HGNC ENSG00000105650 tier1 - - 68 0 0.00 30 37 55.22 PDGFC 0 genome.wustl.edu 37 4 157688926 157688926 + Missense_Mutation SNP T T G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 157688926 157688926 T G SNP PDGFC ENST00000502773 human ensembl 74_37 -1 known missense c.920 p.E307A 1.000 pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom pfam_CUB_dom,pfam_PDGF/VEGF_dom,superfamily_CUB_dom,smart_CUB_dom,smart_PDGF/VEGF_dom,pfscan_CUB_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFC HGNC ENSG00000145431 tier1 - - 34 0 0.00 19 16 45.71 PDGFRB 0 genome.wustl.edu 37 5 149493445 149493445 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 149493445 149493445 A - DEL PDGFRB ENST00000520851 human ensembl 74_37 -1 putative rna NULL NULL 0.978 - - - no_errors PDGFRB HGNC ENSG00000113721 tier1 28 0 0.00 9 9 50.00 PDGFRB 0 genome.wustl.edu 37 5 149513315 149513315 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 149513315 149513315 C T SNP PDGFRB ENST00000261799 human ensembl 74_37 -1 known silent c.768 p.R256 0.225 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors PDGFRB HGNC ENSG00000113721 tier1 - - 40 0 0.00 31 13 29.55 PDLIM2 0 genome.wustl.edu 37 8 22447194 22447195 + Frame_Shift_Ins INS - - C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 22447194 22447195 - C INS PDLIM2 ENST00000308354 human ensembl 74_37 +1 known frame_shift_ins c.1453_1454 p.R487fs 0.421:0.939 NULL pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM2 HGNC ENSG00000120913 tier1 58 0 0.00 74 29 28.16 PDLIM4 0 genome.wustl.edu 37 5 131607782 131607782 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 131607782 131607782 G A SNP PDLIM4 ENST00000253754 human ensembl 74_37 +1 known missense c.853 p.G285S 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM4 HGNC ENSG00000131435 tier1 rs202040278 - 46 0 0.00 15 14 48.28 PDS5B 0 genome.wustl.edu 37 13 33344888 33344888 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 33344888 33344888 A - DEL PDS5B ENST00000315596 human ensembl 74_37 +1 known frame_shift_del c.4161 p.N1390fs 0.002 NULL superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 tier1 15 0 0.00 8 10 55.56 PDSS1 0 genome.wustl.edu 37 10 27035432 27035432 + RNA SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 27035432 27035432 C A SNP PDSS1 ENST00000470978 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors PDSS1 HGNC ENSG00000148459 tier1 - - 53 0 0.00 46 31 40.26 PDXDC2P 0 genome.wustl.edu 37 16 70072984 70072984 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 70072984 70072984 T - DEL PDXDC2P ENST00000530079 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PDXDC2P HGNC ENSG00000196696 tier1 21 0 0.00 16 12 42.86 PDZD3 0 genome.wustl.edu 37 11 119058335 119058335 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 119058335 119058335 C - DEL PDZD3 ENST00000392817 human ensembl 74_37 +1 known frame_shift_del c.781 p.A264fs 0.987 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD3 HGNC ENSG00000172367 tier1 42 0 0.00 38 2 5.00 PDZD7 0 genome.wustl.edu 37 10 102778605 102778605 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 102778605 102778605 C T SNP PDZD7 ENST00000370215 human ensembl 74_37 -1 known missense c.1298 p.R433H 0.998 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD7 HGNC ENSG00000186862 tier1 - - 77 0 0.00 28 21 42.86 PDZD7 0 genome.wustl.edu 37 10 102783244 102783244 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 102783244 102783244 C T SNP PDZD7 ENST00000370215 human ensembl 74_37 -1 known missense c.491 p.R164Q 0.997 superfamily_PDZ,smart_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD7 HGNC ENSG00000186862 tier1 - - 48 0 0.00 36 4 10.00 PDZD9 0 genome.wustl.edu 37 16 21995730 21995730 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 21995730 21995730 G T SNP PDZD9 ENST00000424898 human ensembl 74_37 -1 known missense c.653 p.A218D 0.669 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD9 HGNC ENSG00000155714 121 0 0.00 126 8 5.93 PEG3 0 genome.wustl.edu 37 19 57325797 57325797 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 57325797 57325797 C A SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.4013 p.G1338V 0.740 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 tier1 - - 27 0 0.00 23 15 39.47 PEMT 0 genome.wustl.edu 37 17 17409600 17409600 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 17409600 17409600 C T SNP PEMT ENST00000435340 human ensembl 74_37 -1 putative missense c.562 p.G188R 0.766 NULL pfam_Phopholipid_MeTrfase - no_errors PEMT HGNC ENSG00000133027 tier1 - - 92 0 0.00 56 33 37.08 PENK 0 genome.wustl.edu 37 8 57358249 57358249 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 57358249 57358249 G A SNP PENK ENST00000518770 human ensembl 74_37 -1 putative silent c.264 p.G88 0.000 NULL pfam_Opioid_neupept,prints_Proenkphlin_A - no_errors PENK HGNC ENSG00000181195 35 0 0.00 26 10 27.78 PER1 0 genome.wustl.edu 37 17 8046844 8046844 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 8046844 8046844 C T SNP PER1 ENST00000317276 human ensembl 74_37 -1 known missense c.2812 p.A938T 0.258 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER1 HGNC ENSG00000179094 tier1 - - 25 0 0.00 8 7 46.67 PER1 0 genome.wustl.edu 37 17 8052896 8052896 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 8052896 8052896 C T SNP PER1 ENST00000317276 human ensembl 74_37 -1 known missense c.737 p.R246Q 0.975 superfamily_PAS,smart_PAS pfam_Period_circadian-like_C,pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER1 HGNC ENSG00000179094 tier1 rs139250084 - 70 0 0.00 41 26 38.81 PER2 0 genome.wustl.edu 37 2 239161960 239161960 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 239161960 239161960 G T SNP PER2 ENST00000254657 human ensembl 74_37 -1 known missense c.2704 p.P902T 0.754 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER2 HGNC ENSG00000132326 71 0 0.00 62 4 5.97 PER3 0 genome.wustl.edu 37 1 7887253 7887253 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 7887253 7887253 C T SNP PER3 ENST00000361923 human ensembl 74_37 +1 known missense c.2240 p.P747L 0.001 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 15 0 0.00 5 6 54.55 PEX1 0 genome.wustl.edu 37 7 92132381 92132381 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 92132381 92132381 C T SNP PEX1 ENST00000248633 human ensembl 74_37 -1 known missense c.2200 p.V734I 0.032 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Peroxisome_synth_fac_1_a/b,pfam_PEX-1N,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase - no_errors PEX1 HGNC ENSG00000127980 tier1 rs141510219 - 52 0 0.00 38 18 32.14 PEX14 0 genome.wustl.edu 37 1 10596278 10596278 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 10596278 10596278 G T SNP PEX14 ENST00000356607 human ensembl 74_37 +1 known silent c.93 p.T31 0.895 pfam_Pex14_N pfam_Pex14_N - no_errors PEX14 HGNC ENSG00000142655 tier1 - - 49 0 0.00 34 5 12.82 PFKL 0 genome.wustl.edu 37 21 45742906 45742906 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 45742906 45742906 G A SNP PFKL ENST00000403390 human ensembl 74_37 +1 known missense c.1612 p.A538T 0.996 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKL HGNC ENSG00000141959 tier1 - - 56 0 0.00 49 18 26.87 PGK2 0 genome.wustl.edu 37 6 49754577 49754577 + Silent SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 49754577 49754577 A G SNP PGK2 ENST00000304801 human ensembl 74_37 -1 known silent c.324 p.C108 0.995 pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase - no_errors PGK2 HGNC ENSG00000170950 tier1 - - 90 0 0.00 40 20 33.33 PGPEP1L 0 genome.wustl.edu 37 15 99512698 99512698 + Silent SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 99512698 99512698 T C SNP PGPEP1L ENST00000378919 human ensembl 74_37 -1 known silent c.327 p.V109 0.000 pfam_Peptidase_C15,superfamily_Peptidase_C15-like pfam_Peptidase_C15,superfamily_Peptidase_C15-like - no_errors PGPEP1L HGNC ENSG00000183571 tier1 - - 53 0 0.00 28 12 30.00 PGPEP1L 0 genome.wustl.edu 37 15 99512874 99512874 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 99512874 99512874 C T SNP PGPEP1L ENST00000378919 human ensembl 74_37 -1 known missense c.151 p.V51M 0.989 pfam_Peptidase_C15,superfamily_Peptidase_C15-like pfam_Peptidase_C15,superfamily_Peptidase_C15-like - no_errors PGPEP1L HGNC ENSG00000183571 tier1 rs201422918 - 67 0 0.00 57 4 6.56 PGR 0 genome.wustl.edu 37 11 100962608 100962608 + Splice_Site SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 100962608 100962608 C A SNP PGR ENST00000325455 human ensembl 74_37 -1 known splice_site c.1790-1 e3-1 1.000 - - - no_errors PGR HGNC ENSG00000082175 tier1 - - 51 0 0.00 21 13 38.24 PHACTR3 0 genome.wustl.edu 37 20 58416532 58416532 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 58416532 58416532 C T SNP PHACTR3 ENST00000371015 human ensembl 74_37 +1 known missense c.1529 p.A510V 1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR3 HGNC ENSG00000087495 tier1 - - 47 0 0.00 41 17 28.81 PHACTR3 0 genome.wustl.edu 37 20 58422169 58422169 + Splice_Site SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 58422169 58422169 G T SNP PHACTR3 ENST00000371015 human ensembl 74_37 +1 known splice_site c.1665-1 e13-1 1.000 - - - no_errors PHACTR3 HGNC ENSG00000087495 tier1 - - 26 0 0.00 39 4 9.30 PHF15 0 genome.wustl.edu 37 5 133897992 133897992 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 133897992 133897992 G T SNP PHF15 ENST00000395003 human ensembl 74_37 +1 known missense c.787 p.A263S 1.000 superfamily_Znf_FYVE_PHD pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF15 HGNC ENSG00000043143 tier1 - - 89 0 0.00 69 4 5.48 PHF15 0 genome.wustl.edu 37 5 133914940 133914940 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 133914940 133914940 G T SNP PHF15 ENST00000395003 human ensembl 74_37 +1 known missense c.2306 p.G769V 0.880 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF15 HGNC ENSG00000043143 45 0 0.00 44 4 8.33 PHF17 0 genome.wustl.edu 37 4 129752963 129752963 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 129752963 129752963 G A SNP PHF17 ENST00000226319 human ensembl 74_37 +1 known missense c.50 p.G17D 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF17 HGNC ENSG00000077684 tier1 - - 121 0 0.00 73 35 32.11 PHF17 0 genome.wustl.edu 37 4 129783389 129783389 + Silent SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 129783389 129783389 T C SNP PHF17 ENST00000413543 human ensembl 74_37 +1 known silent c.1512 p.I504 0.990 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF17 HGNC ENSG00000077684 tier1 - - 34 0 0.00 17 10 37.04 PHF2 0 genome.wustl.edu 37 9 96422612 96422612 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 96422612 96422612 A - DEL PHF2 ENST00000359246 human ensembl 74_37 +1 known frame_shift_del c.1468 p.K492fs 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 tier1 28 0 0.00 14 7 33.33 PHF2 0 genome.wustl.edu 37 9 96422679 96422679 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 96422679 96422679 C A SNP PHF2 ENST00000359246 human ensembl 74_37 +1 known missense c.1535 p.P512H 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 tier1 - - 12 0 0.00 4 5 55.56 PHF2 0 genome.wustl.edu 37 9 96422621 96422621 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 96422621 96422621 A G SNP PHF2 ENST00000359246 human ensembl 74_37 +1 known missense c.1477 p.T493A 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 24 0 0.00 14 4 22.22 PHF2 0 genome.wustl.edu 37 9 96422642 96422642 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 96422642 96422642 C A SNP PHF2 ENST00000359246 human ensembl 74_37 +1 known missense c.1498 p.P500T 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 21 0 0.00 10 3 23.08 PHF20L1 0 genome.wustl.edu 37 8 133826909 133826909 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 133826909 133826909 A - DEL PHF20L1 ENST00000395386 human ensembl 74_37 +1 putative frame_shift_del c.958 p.N322fs 1.000 NULL pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Tudor-like_plant - no_errors PHF20L1 HGNC ENSG00000129292 tier1 31 0 0.00 38 9 19.15 PHF21B 0 genome.wustl.edu 37 22 45289355 45289355 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 45289355 45289355 G A SNP PHF21B ENST00000313237 human ensembl 74_37 -1 known silent c.942 p.S314 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21B HGNC ENSG00000056487 tier1 - - 38 0 0.00 20 13 39.39 PHF21B 0 genome.wustl.edu 37 22 45289398 45289398 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 45289398 45289398 C T SNP PHF21B ENST00000313237 human ensembl 74_37 -1 known missense c.899 p.R300Q 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21B HGNC ENSG00000056487 tier1 - - 51 0 0.00 19 16 45.71 PHF3 0 genome.wustl.edu 37 6 64415953 64415953 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 64415953 64415953 A - DEL PHF3 ENST00000262043 human ensembl 74_37 +1 known frame_shift_del c.3402 p.V1137fs 0.986 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 tier1 30 0 0.00 21 14 40.00 PHGR1 0 genome.wustl.edu 37 15 40648457 40648457 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 40648457 40648457 C 0 DEL PHGR1 ENST00000448599 human ensembl 74_37 +1 known frame_shift_del c.202 p.P69fs 0.000 NULL NULL - no_errors PHGR1 HGNC ENSG00000233041 8 0 0.00 3 4 57.14 PHKG2 0 genome.wustl.edu 37 16 30767570 30767570 + Silent SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 30767570 30767570 A G SNP PHKG2 ENST00000563588 human ensembl 74_37 +1 known silent c.624 p.P208 0.601 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Phosph_kin_gamma,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PHKG2 HGNC ENSG00000156873 tier1 - - 95 0 0.00 80 6 6.98 PHLPP1 0 genome.wustl.edu 37 18 60645905 60645905 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 60645905 60645905 C T SNP PHLPP1 ENST00000262719 human ensembl 74_37 +1 known silent c.4395 p.G1465 0.708 NULL pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 tier1 - - 50 0 0.00 21 15 41.67 PHTF2 0 genome.wustl.edu 37 7 77539699 77539699 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 77539699 77539699 T C SNP PHTF2 ENST00000248550 human ensembl 74_37 +1 known missense c.749 p.L250P 1.000 NULL pfam_TF_homeodomain_male - no_errors PHTF2 HGNC ENSG00000006576 tier1 - - 67 0 0.00 54 32 37.21 PHTF2 0 genome.wustl.edu 37 7 77569581 77569581 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 77569581 77569581 T - DEL PHTF2 ENST00000248550 human ensembl 74_37 +1 known frame_shift_del c.1702 p.L570fs 1.000 NULL pfam_TF_homeodomain_male - no_errors PHTF2 HGNC ENSG00000006576 tier1 50 0 0.00 58 22 27.50 PHYHIP 0 genome.wustl.edu 37 8 22084495 22084495 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 22084495 22084495 A G SNP PHYHIP ENST00000454243 human ensembl 74_37 -1 known missense c.209 p.M70T 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PHYHIP HGNC ENSG00000168490 tier1 - - 31 0 0.00 27 8 22.86 PI4KA 0 genome.wustl.edu 37 22 21119499 21119499 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 21119499 21119499 C T SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known silent c.2463 p.E821 0.994 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 tier1 - - 13 0 0.00 21 12 36.36 PIAS1 0 genome.wustl.edu 37 15 68438944 68438944 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 68438944 68438944 G T SNP PIAS1 ENST00000249636 human ensembl 74_37 +1 known missense c.734 p.R245L 1.000 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS1 HGNC ENSG00000033800 tier1 - - 52 0 0.00 47 5 9.62 PIAS1 0 genome.wustl.edu 37 15 68438931 68438931 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 68438931 68438931 G T SNP PIAS1 ENST00000249636 human ensembl 74_37 +1 known missense c.721 p.V241L 1.000 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS1 HGNC ENSG00000033800 51 0 0.00 46 3 6.12 PIAS4 0 genome.wustl.edu 37 19 4033558 4033558 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 4033558 4033558 C T SNP PIAS4 ENST00000262971 human ensembl 74_37 +1 known silent c.1122 p.Y374 0.959 pfscan_Znf_MIZ pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS4 HGNC ENSG00000105229 tier1 - - 67 0 0.00 33 25 43.10 PIEZO2 0 genome.wustl.edu 37 18 10752835 10752835 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 10752835 10752835 G T SNP PIEZO2 ENST00000582913 human ensembl 74_37 -1 known silent c.3933 p.L1311 1.000 NULL NULL - no_errors PIEZO2 HGNC ENSG00000154864 tier1 - - 21 0 0.00 18 8 30.77 PIEZO2 0 genome.wustl.edu 37 18 10759835 10759835 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 10759835 10759835 G A SNP PIEZO2 ENST00000582913 human ensembl 74_37 -1 known silent c.3490 p.L1164 1.000 NULL NULL - no_errors PIEZO2 HGNC ENSG00000154864 tier1 - - 37 0 0.00 22 15 40.54 PIGC 0 genome.wustl.edu 37 1 172362949 172362949 + RNA DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 172362949 172362949 G - DEL PIGC ENST00000484368 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors PIGC HGNC ENSG00000135845 tier1 59 0 0.00 59 30 33.71 PIGQ 0 genome.wustl.edu 37 16 624168 624168 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 624168 624168 G T SNP PIGQ ENST00000026218 human ensembl 74_37 +1 known missense c.94 p.V32F 1.000 NULL pfam_GlcNAc_Gpi1 - no_errors PIGQ HGNC ENSG00000007541 tier1 - - 42 0 0.00 43 4 8.51 PIK3AP1 0 genome.wustl.edu 37 10 98363714 98363714 + RNA DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 98363714 98363714 G - DEL PIK3AP1 ENST00000489982 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PIK3AP1 HGNC ENSG00000155629 tier1 22 0 0.00 16 2 11.11 PIK3C2B 0 genome.wustl.edu 37 1 204425245 204425245 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 204425245 204425245 G A SNP PIK3C2B ENST00000496872 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PIK3C2B HGNC ENSG00000133056 tier1 - - 30 0 0.00 30 11 26.83 PIK3CB 0 genome.wustl.edu 37 3 138456559 138456559 + Missense_Mutation SNP A A C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 138456559 138456559 A C SNP PIK3CB ENST00000289153 human ensembl 74_37 -1 known missense c.791 p.I264S 1.000 pfam_PI3K_Ras-bd_dom,smart_PI3K_Ras-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CB HGNC ENSG00000051382 tier1 - - 41 0 0.00 19 13 40.62 PIK3R6 0 genome.wustl.edu 37 17 8736327 8736327 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 8736327 8736327 G A SNP PIK3R6 ENST00000311434 human ensembl 74_37 -1 known silent c.681 p.H227 0.978 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R6 HGNC ENSG00000174083 tier1 - - 48 0 0.00 27 11 28.95 PIK3R6 0 genome.wustl.edu 37 17 8741940 8741940 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 8741940 8741940 C T SNP PIK3R6 ENST00000311434 human ensembl 74_37 -1 known missense c.130 p.E44K 0.984 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R6 HGNC ENSG00000174083 tier1 - - 19 0 0.00 20 16 44.44 PIKFYVE 0 genome.wustl.edu 37 2 209190598 209190598 + Missense_Mutation SNP T T G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 209190598 209190598 T G SNP PIKFYVE ENST00000264380 human ensembl 74_37 +1 known missense c.3063 p.D1021E 1.000 NULL pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC ENSG00000115020 tier1 - - 38 0 0.00 34 15 30.61 PINK1 0 genome.wustl.edu 37 1 20975711 20975711 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 20975711 20975711 G A SNP PINK1 ENST00000321556 human ensembl 74_37 +1 known missense c.1475 p.R492Q 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PINK1 HGNC ENSG00000158828 tier1 rs143620063 - 18 0 0.00 16 7 30.43 PINK1 0 genome.wustl.edu 37 1 20976948 20976948 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 20976948 20976948 G A SNP PINK1 ENST00000321556 human ensembl 74_37 +1 known missense c.1510 p.A504T 0.999 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PINK1 HGNC ENSG00000158828 tier1 - - 68 0 0.00 52 31 37.35 PIP4K2B 0 genome.wustl.edu 37 17 36943140 36943140 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 36943140 36943140 T C SNP PIP4K2B ENST00000269554 human ensembl 74_37 -1 known missense c.193 p.M65V 1.000 NULL pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP4K2B HGNC ENSG00000141720 tier1 - - 90 0 0.00 47 40 45.98 PIPSL 0 genome.wustl.edu 37 10 95718520 95718520 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 95718520 95718520 C T SNP PIPSL ENST00000480546 human ensembl 74_37 -1 putative rna NULL NULL 0.852 - - - no_errors PIPSL HGNC ENSG00000180764 tier1 - - 77 0 0.00 36 19 34.55 PIPSL 0 genome.wustl.edu 37 10 95719860 95719860 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 95719860 95719860 G A SNP PIPSL ENST00000480546 human ensembl 74_37 -1 putative rna NULL NULL 0.977 - - - no_errors PIPSL HGNC ENSG00000180764 tier1 - - 115 0 0.00 59 40 40.40 PISD 0 genome.wustl.edu 37 22 32046690 32046690 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 32046690 32046690 C T SNP PISD ENST00000439502 human ensembl 74_37 -1 known missense c.140 p.R47H 0.055 NULL pfam_PS_Dcarbxylase,tigrfam_PS_decarb - no_errors PISD HGNC ENSG00000241878 tier1 - - 24 0 0.00 20 14 41.18 PJA2 0 genome.wustl.edu 37 5 108691648 108691648 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 108691648 108691648 C T SNP PJA2 ENST00000361189 human ensembl 74_37 -1 known missense c.1732 p.A578T 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA2 HGNC ENSG00000198961 tier1 - - 40 0 0.00 26 13 33.33 PKD1 0 genome.wustl.edu 37 16 2156530 2156530 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 2156530 2156530 C T SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.7358 p.R2453H 0.000 pfam_PKD/REJ-like,pfscan_REJ-like,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 tier1 - - 74 0 0.00 29 27 48.21 PKD1L1 0 genome.wustl.edu 37 7 47842891 47842891 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 47842891 47842891 C T SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known missense c.7879 p.V2627I 0.000 pfam_PKD1_2_channel pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 tier1 - - 42 0 0.00 30 23 43.40 PKD1L1 0 genome.wustl.edu 37 7 47852865 47852865 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 47852865 47852865 G A SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known silent c.7200 p.I2400 0.000 NULL pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 tier1 - - 82 0 0.00 25 28 52.83 PKHD1L1 0 genome.wustl.edu 37 8 110476889 110476889 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 110476889 110476889 G A SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.7828 p.E2610K 0.996 superfamily_Pectin_lyase_fold/virulence pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 - - 47 0 0.00 47 11 18.97 PLA2G16 0 genome.wustl.edu 37 11 63365556 63365556 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 63365556 63365556 T C SNP PLA2G16 ENST00000323646 human ensembl 74_37 -1 known missense c.95 p.Y32C 1.000 NULL pfam_LRAT-like_dom - no_errors PLA2G16 HGNC ENSG00000176485 tier1 - - 85 0 0.00 37 23 38.33 PLA2G6 0 genome.wustl.edu 37 22 38541585 38541585 + Silent SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 38541585 38541585 A G SNP PLA2G6 ENST00000332509 human ensembl 74_37 -1 known silent c.285 p.Y95 0.948 NULL pfam_Ankyrin_rpt,pfam_Patatin/PLipase_A2-rel,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PLA2G6 HGNC ENSG00000184381 tier1 - - 39 0 0.00 21 13 38.24 PLAGL1 0 genome.wustl.edu 37 6 144263029 144263029 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 144263029 144263029 G A SNP PLAGL1 ENST00000354765 human ensembl 74_37 -1 known silent c.924 p.T308 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAGL1 HGNC ENSG00000118495 tier1 - - 26 0 0.00 10 8 44.44 PLB1 0 genome.wustl.edu 37 2 28788159 28788159 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 28788159 28788159 G A SNP PLB1 ENST00000422425 human ensembl 74_37 +1 known missense c.1252 p.A418T 0.920 pfam_Lipase_GDSL pfam_Lipase_GDSL - no_errors PLB1 HGNC ENSG00000163803 tier1 - - 71 0 0.00 58 4 6.45 PLCB3 0 genome.wustl.edu 37 11 64022235 64022235 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 64022235 64022235 G A SNP PLCB3 ENST00000279230 human ensembl 74_37 +1 known missense c.193 p.D65N 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB3 HGNC ENSG00000149782 tier1 - - 40 0 0.00 21 9 30.00 PLCB3 0 genome.wustl.edu 37 11 64031214 64031214 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 64031214 64031214 C T SNP PLCB3 ENST00000279230 human ensembl 74_37 +1 known missense c.2507 p.P836L 1.000 pirsf_PLC-beta,superfamily_C2_dom pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB3 HGNC ENSG00000149782 tier1 rs142407686 - 113 0 0.00 52 24 31.58 PLD3 0 genome.wustl.edu 37 19 40883777 40883777 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 40883777 40883777 C T SNP PLD3 ENST00000356508 human ensembl 74_37 +1 known missense c.1270 p.R424C 0.977 smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase - no_errors PLD3 HGNC ENSG00000105223 tier1 rs201893308 - 40 0 0.00 17 9 34.62 PLEC 0 genome.wustl.edu 37 8 144994400 144994400 + Nonsense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 144994400 144994400 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known nonsense c.10000 p.Q3334* 0.798 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 14 0 0.00 10 3 23.08 PLEKHA1 0 genome.wustl.edu 37 10 124152781 124152781 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 124152781 124152781 G A SNP PLEKHA1 ENST00000368990 human ensembl 74_37 +1 known missense c.65 p.S22N 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA1 HGNC ENSG00000107679 tier1 - - 84 0 0.00 37 40 51.95 PLEKHA4 0 genome.wustl.edu 37 19 49341300 49341300 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 49341300 49341300 G A SNP PLEKHA4 ENST00000263265 human ensembl 74_37 -1 known missense c.2051 p.A684V 0.964 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA4 HGNC ENSG00000105559 tier1 - - 103 0 0.00 68 36 34.62 PLEKHA5 0 genome.wustl.edu 37 12 19501363 19501363 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 19501363 19501363 C T SNP PLEKHA5 ENST00000317589 human ensembl 74_37 +1 known missense c.2620 p.P874S 1.000 NULL pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA5 HGNC ENSG00000052126 tier1 - - 62 0 0.00 42 113 72.90 PLEKHA6 0 genome.wustl.edu 37 1 204228411 204228411 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 204228411 204228411 C - DEL PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known frame_shift_del c.982 p.V328fs 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 tier1 38 0 0.00 26 10 27.78 PLEKHA6 0 genome.wustl.edu 37 1 204228416 204228416 + Missense_Mutation SNP C C G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 204228416 204228416 C G SNP PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known missense c.977 p.R326P 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 37 0 0.00 36 3 7.69 PLEKHG3 0 genome.wustl.edu 37 14 65194674 65194674 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 65194674 65194674 G A SNP PLEKHG3 ENST00000394691 human ensembl 74_37 +1 known missense c.325 p.V109I 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC ENSG00000126822 tier1 - - 52 0 0.00 18 14 43.75 PLEKHM2 0 genome.wustl.edu 37 1 16053915 16053915 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 16053915 16053915 C T SNP PLEKHM2 ENST00000375799 human ensembl 74_37 +1 known missense c.1348 p.P450S 0.000 NULL pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run - no_errors PLEKHM2 HGNC ENSG00000116786 tier1 - - 31 0 0.00 14 10 41.67 PLIN4 0 genome.wustl.edu 37 19 4511502 4511502 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 4511502 4511502 C T SNP PLIN4 ENST00000301286 human ensembl 74_37 -1 novel missense c.2428 p.V810M 0.006 NULL pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 tier1 rs113169027 - 262 0 0.00 148 50 25.13 PLOD1 0 genome.wustl.edu 37 1 12012719 12012719 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 12012719 12012719 C T SNP PLOD1 ENST00000376369 human ensembl 74_37 +1 known missense c.647 p.A216V 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD1 HGNC ENSG00000083444 tier1 - - 92 0 0.00 44 28 38.89 PLOD2 0 genome.wustl.edu 37 3 145788602 145788602 + Missense_Mutation SNP A A C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 145788602 145788602 A C SNP PLOD2 ENST00000282903 human ensembl 74_37 -1 known missense c.2179 p.W727G 1.000 pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD2 HGNC ENSG00000152952 tier1 - - 14 0 0.00 15 10 40.00 PLVAP 0 genome.wustl.edu 37 19 17487856 17487856 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 17487856 17487856 T C SNP PLVAP ENST00000252590 human ensembl 74_37 -1 known missense c.242 p.Q81R 0.000 pfam_PV-1 pfam_PV-1 - no_errors PLVAP HGNC ENSG00000130300 tier1 - - 63 0 0.00 42 33 44.00 PLXNA2 0 genome.wustl.edu 37 1 208315787 208315787 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 208315787 208315787 G - DEL PLXNA2 ENST00000367033 human ensembl 74_37 -1 known frame_shift_del c.1393 p.H465fs 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 tier1 63 0 0.00 60 17 22.08 PLXNB1 0 genome.wustl.edu 37 3 48454262 48454262 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 48454262 48454262 G A SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known silent c.4743 p.R1581 0.988 pfam_Plexin_cytoplasmic_RasGAP_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB1 HGNC ENSG00000164050 tier1 - - 40 0 0.00 34 16 32.00 PLXNB1 0 genome.wustl.edu 37 3 48465485 48465485 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 48465485 48465485 C - DEL PLXNB1 ENST00000296440 human ensembl 74_37 -1 known frame_shift_del c.536 p.G179fs 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB1 HGNC ENSG00000164050 tier1 25 0 0.00 7 4 36.36 PLXNB2 0 genome.wustl.edu 37 22 50721802 50721803 + Frame_Shift_Del DEL CA CA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 50721802 50721803 CA - DEL PLXNB2 ENST00000359337 human ensembl 74_37 -1 known frame_shift_del c.2643_2642 p.L881fs 0.009:0.280 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB2 HGNC ENSG00000196576 tier1 64 0 0.00 24 22 47.83 PLXNB2 0 genome.wustl.edu 37 22 50728029 50728029 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 50728029 50728029 C T SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known missense c.985 p.A329T 0.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB2 HGNC ENSG00000196576 tier1 - - 75 0 0.00 44 19 30.16 PLXNB3 0 genome.wustl.edu 37 X 153035373 153035373 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 153035373 153035373 C - DEL PLXNB3 ENST00000538966 human ensembl 74_37 +1 known frame_shift_del c.1677 p.R561fs 0.991 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB3 HGNC ENSG00000198753 tier1 23 0 0.00 3 15 83.33 PLXNC1 0 genome.wustl.edu 37 12 94653484 94653484 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 94653484 94653484 G T SNP PLXNC1 ENST00000258526 human ensembl 74_37 +1 known missense c.3225 p.K1075N 0.996 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNC1 HGNC ENSG00000136040 tier1 - - 39 0 0.00 51 4 7.14 PNISR 0 genome.wustl.edu 37 6 99858807 99858807 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 99858807 99858807 G - DEL PNISR ENST00000369239 human ensembl 74_37 -1 known frame_shift_del c.311 p.P104fs 1.000 NULL NULL - no_errors PNISR HGNC ENSG00000132424 tier1 72 0 0.00 63 35 35.71 PNISR 0 genome.wustl.edu 37 6 99860163 99860163 + RNA SNP A A T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 99860163 99860163 A T SNP PNISR ENST00000466057 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PNISR HGNC ENSG00000132424 tier1 - - 43 0 0.00 14 9 39.13 PNPLA5 0 genome.wustl.edu 37 22 44286964 44286964 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 44286964 44286964 G T SNP PNPLA5 ENST00000216177 human ensembl 74_37 -1 known missense c.404 p.A135D 0.057 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA5 HGNC ENSG00000100341 tier1 - - 97 0 0.00 61 4 6.15 PNPLA7 0 genome.wustl.edu 37 9 140356679 140356679 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 140356679 140356679 G - DEL PNPLA7 ENST00000406427 human ensembl 74_37 -1 known frame_shift_del c.3597 p.I1200fs 1.000 superfamily_Acyl_Trfase/lysoPLipase pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 tier1 85 0 0.00 48 11 18.64 POC5 0 genome.wustl.edu 37 5 74984889 74984889 + Silent SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 74984889 74984889 T C SNP POC5 ENST00000428202 human ensembl 74_37 -1 known silent c.1077 p.V359 0.024 NULL NULL - no_errors POC5 HGNC ENSG00000152359 tier1 - - 41 0 0.00 30 28 48.28 POGLUT1 0 genome.wustl.edu 37 3 119204182 119204182 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 119204182 119204182 G A SNP POGLUT1 ENST00000295588 human ensembl 74_37 +1 known missense c.586 p.A196T 1.000 pfam_LipoPS_modifying,smart_LipoPS_modifying pfam_LipoPS_modifying,smart_LipoPS_modifying - no_errors POGLUT1 HGNC ENSG00000163389 74 0 0.00 76 4 5.00 POLD1 0 genome.wustl.edu 37 19 50919866 50919866 + Splice_Site DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 50919866 50919866 G - DEL POLD1 ENST00000440232 human ensembl 74_37 +1 known splice_site_del c.2954-1 e23-1 1.000 - - - no_errors POLD1 HGNC ENSG00000062822 tier1 13 0 0.00 7 4 36.36 POLE 0 genome.wustl.edu 37 12 133257836 133257836 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 133257836 133257836 G T SNP POLE ENST00000320574 human ensembl 74_37 -1 known missense c.92 p.A31E 0.999 NULL pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 27 0 0.00 31 4 11.43 POLQ 0 genome.wustl.edu 37 3 121208121 121208121 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 121208121 121208121 G T SNP POLQ ENST00000264233 human ensembl 74_37 -1 known silent c.3657 p.P1219 0.244 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 tier1 - - 64 0 0.00 37 25 40.32 POLR1A 0 genome.wustl.edu 37 2 86302261 86302261 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 86302261 86302261 G A SNP POLR1A ENST00000263857 human ensembl 74_37 -1 known silent c.1503 p.D501 0.959 pfam_RNA_pol_asu,smart_RNA_pol_N pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 tier1 - - 140 0 0.00 61 54 46.55 POLR1C 0 genome.wustl.edu 37 6 43488038 43488038 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 43488038 43488038 C - DEL POLR1C ENST00000372389 human ensembl 74_37 +1 known frame_shift_del c.528 p.L178fs 0.327 pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 - no_errors POLR1C HGNC ENSG00000171453 tier1 75 0 0.00 35 13 27.08 POLR1C 0 genome.wustl.edu 37 6 43488730 43488730 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 43488730 43488730 G T SNP POLR1C ENST00000372389 human ensembl 74_37 +1 known missense c.866 p.R289L 1.000 pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 - no_errors POLR1C HGNC ENSG00000171453 tier1 - - 63 0 0.00 70 4 5.41 POLR2K 0 genome.wustl.edu 37 8 101164033 101164033 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 101164033 101164033 T - DEL POLR2K ENST00000519765 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors POLR2K HGNC ENSG00000147669 tier1 29 0 0.00 19 27 58.70 POLR2M 0 genome.wustl.edu 37 15 58001499 58001499 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 58001499 58001499 T C SNP POLR2M ENST00000299638 human ensembl 74_37 +1 known missense c.701 p.V234A 1.000 NULL NULL - no_errors POLR2M HGNC ENSG00000255529 tier1 - - 35 0 0.00 29 16 35.56 POLR3B 0 genome.wustl.edu 37 12 106826212 106826213 + Frame_Shift_Ins INS - - G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 106826212 106826213 - G INS POLR3B ENST00000228347 human ensembl 74_37 +1 known frame_shift_ins c.1581_1582 p.E528fs 1.000:1.000 NULL pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5 - no_errors POLR3B HGNC ENSG00000013503 tier1 60 0 0.00 43 20 31.75 POM121L9P 0 genome.wustl.edu 37 22 24659571 24659571 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 24659571 24659571 G A SNP POM121L9P ENST00000414583 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors POM121L9P HGNC ENSG00000128262 tier1 - - 201 0 0.00 98 59 37.34 POMGNT1 0 genome.wustl.edu 37 1 46658080 46658080 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 46658080 46658080 G A SNP POMGNT1 ENST00000371986 human ensembl 74_37 -1 known missense c.1313 p.A438V 0.998 pfam_Glyco_trans_13 pfam_Glyco_trans_13 - no_errors POMGNT1 HGNC ENSG00000085998 tier1 - - 35 0 0.00 15 9 37.50 PON2 0 genome.wustl.edu 37 7 95045559 95045560 + Frame_Shift_Ins INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 95045559 95045560 - A INS PON2 ENST00000536183 human ensembl 74_37 -1 known frame_shift_ins c.259_258 p.S86fs 0.999:0.867 NULL pfam_Arylesterase,pfam_SGL,prints_Arylesterase,prints_Paraoxonase2 - no_errors PON2 HGNC ENSG00000105854 tier1 59 0 0.00 39 24 38.10 POSTN 0 genome.wustl.edu 37 13 38137448 38137448 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 38137448 38137448 T - DEL POSTN ENST00000473823 human ensembl 74_37 -1 known rna NULL NULL 0.032 - - - no_errors POSTN HGNC ENSG00000133110 tier1 40 0 0.00 38 15 28.30 POSTN 0 genome.wustl.edu 37 13 38164539 38164539 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 38164539 38164539 C T SNP POSTN ENST00000379747 human ensembl 74_37 -1 known silent c.411 p.P137 0.778 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 tier1 - - 38 0 0.00 41 10 19.61 POT1 0 genome.wustl.edu 37 7 124493078 124493078 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 124493078 124493078 G A SNP POT1 ENST00000357628 human ensembl 74_37 -1 known missense c.817 p.R273W 1.000 superfamily_NA-bd_OB-fold pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13 - no_errors POT1 HGNC ENSG00000128513 tier1 - - 63 0 0.00 38 23 37.70 POTEE 0 genome.wustl.edu 37 2 131985955 131985955 + Splice_Site SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 131985955 131985955 G A SNP POTEE ENST00000356920 human ensembl 74_37 +1 known splice_site c.1055+1 e5+1 0.405 - - - no_errors POTEE HGNC ENSG00000188219 tier1 - - 173 0 0.00 150 35 18.92 POTEE 0 genome.wustl.edu 37 2 132021787 132021787 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 132021787 132021787 C A SNP POTEE ENST00000356920 human ensembl 74_37 +1 known missense c.2759 p.A920D 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEE HGNC ENSG00000188219 tier1 - - 215 0 0.00 171 23 11.86 POTEE 0 genome.wustl.edu 37 2 131981607 131981607 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 131981607 131981607 A 0 DEL POTEE ENST00000356920 human ensembl 74_37 +1 known frame_shift_del c.801 p.N269fs 0.968 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEE HGNC ENSG00000188219 43 0 0.00 22 10 31.25 POTEF 0 genome.wustl.edu 37 2 130868115 130868115 + Splice_Site SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 130868115 130868115 C T SNP POTEF ENST00000357462 human ensembl 74_37 -1 known splice_site c.1055+1 e5+1 0.407 - - - no_errors POTEF HGNC ENSG00000196604 tier1 - - 34 0 0.00 21 11 34.38 POU2F1 0 genome.wustl.edu 37 1 167385179 167385182 + RNA DEL AAAA AAAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 167385179 167385182 AAAA - DEL POU2F1 ENST00000367865 human ensembl 74_37 +1 known rna NULL NULL 0.090:0.002:0.000:0.000 - - - no_errors POU2F1 HGNC ENSG00000143190 tier1 80 0 0.00 45 39 46.43 POU2F2 0 genome.wustl.edu 37 19 42600367 42600367 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 42600367 42600367 G A SNP POU2F2 ENST00000342301 human ensembl 74_37 -1 known missense c.530 p.P177L 1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F2 HGNC ENSG00000028277 tier1 - - 10 0 0.00 7 4 36.36 POU4F3 0 genome.wustl.edu 37 5 145719656 145719656 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 145719656 145719656 G A SNP POU4F3 ENST00000230732 human ensembl 74_37 +1 known silent c.666 p.S222 0.862 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F3 HGNC ENSG00000091010 tier1 - - 92 0 0.00 55 32 36.78 PPAP2B 0 genome.wustl.edu 37 1 56978869 56978869 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 56978869 56978869 A - DEL PPAP2B ENST00000459962 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors PPAP2B HGNC ENSG00000162407 tier1 42 0 0.00 20 12 37.50 PPARA 0 genome.wustl.edu 37 22 46614298 46614298 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 46614298 46614298 G T SNP PPARA ENST00000262735 human ensembl 74_37 +1 known missense c.508 p.A170S 1.000 pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors PPARA HGNC ENSG00000186951 tier1 - - 51 0 0.00 28 20 41.67 PPARG 0 genome.wustl.edu 37 3 12434182 12434182 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 12434182 12434182 A - DEL PPARG ENST00000287820 human ensembl 74_37 +1 known frame_shift_del c.550 p.S186fs 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_PPARgamma_N,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_1Cnucl_rcpt_G,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors PPARG HGNC ENSG00000132170 tier1 82 0 0.00 42 28 40.00 PPID 0 genome.wustl.edu 37 4 159642600 159642600 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 159642600 159642600 C T SNP PPID ENST00000307720 human ensembl 74_37 -1 known missense c.121 p.V41I 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPID HGNC ENSG00000171497 tier1 - - 75 0 0.00 67 28 29.47 PPIL4 0 genome.wustl.edu 37 6 149833366 149833366 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 149833366 149833366 T - DEL PPIL4 ENST00000253329 human ensembl 74_37 -1 known frame_shift_del c.1152 p.K384fs 0.998 NULL pfam_Cyclophilin-like_PPIase_dom,pfam_RRM_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL4 HGNC ENSG00000131013 tier1 122 0 0.00 107 42 28.19 PPL 0 genome.wustl.edu 37 16 4935547 4935547 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 4935547 4935547 G A SNP PPL ENST00000345988 human ensembl 74_37 -1 known missense c.3109 p.R1037C 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 tier1 - - 32 0 0.00 17 11 39.29 PPM1K 0 genome.wustl.edu 37 4 89189444 89189444 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 89189444 89189444 C - DEL PPM1K ENST00000608933 human ensembl 74_37 -1 known frame_shift_del c.750 p.Q251fs 0.984 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1K HGNC ENSG00000163644 tier1 70 0 0.00 50 25 33.33 PPM1K 0 genome.wustl.edu 37 4 89189962 89189962 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 89189962 89189962 A - DEL PPM1K ENST00000608933 human ensembl 74_37 -1 known frame_shift_del c.638 p.L213fs 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1K HGNC ENSG00000163644 tier1 64 0 0.00 55 28 33.73 PPP1R16B 0 genome.wustl.edu 37 20 37529287 37529287 + Silent SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 37529287 37529287 A G SNP PPP1R16B ENST00000299824 human ensembl 74_37 +1 known silent c.531 p.E177 1.000 superfamily_Ankyrin_rpt-contain_dom,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R16B HGNC ENSG00000101445 tier1 - - 51 0 0.00 31 21 40.38 PPP1R26 0 genome.wustl.edu 37 9 138378164 138378164 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 138378164 138378164 G T SNP PPP1R26 ENST00000356818 human ensembl 74_37 +1 known missense c.1808 p.R603M 0.000 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 tier1 - - 34 0 0.00 16 14 46.67 PPP1R26 0 genome.wustl.edu 37 9 138379511 138379511 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 138379511 138379511 G - DEL PPP1R26 ENST00000356818 human ensembl 74_37 +1 known frame_shift_del c.3155 p.G1054fs 0.000 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 tier1 15 0 0.00 12 5 29.41 PPP2R3A 0 genome.wustl.edu 37 3 135768155 135768155 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 135768155 135768155 G T SNP PPP2R3A ENST00000264977 human ensembl 74_37 +1 known missense c.2421 p.K807N 0.987 NULL pfscan_EF_hand_dom - no_errors PPP2R3A HGNC ENSG00000073711 tier1 - - 47 0 0.00 66 5 7.04 PPP2R3C 0 genome.wustl.edu 37 14 35585935 35585935 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 35585935 35585935 T - DEL PPP2R3C ENST00000261475 human ensembl 74_37 -1 known frame_shift_del c.67 p.S23fs 1.000 NULL NULL - no_errors PPP2R3C HGNC ENSG00000092020 tier1 41 0 0.00 23 15 39.47 PPP6R2 0 genome.wustl.edu 37 22 50853069 50853069 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 50853069 50853069 G A SNP PPP6R2 ENST00000216061 human ensembl 74_37 +1 known missense c.503 p.R168H 1.000 pfam_SAPS,superfamily_ARM-type_fold pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R2 HGNC ENSG00000100239 tier1 - - 71 0 0.00 25 19 43.18 PRB2 0 genome.wustl.edu 37 12 11653896 11653896 + RNA DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 11653896 11653896 C - DEL PRB2 ENST00000545829 human ensembl 74_37 -1 known rna NULL NULL 0.993 - - - no_errors PRB2 HGNC ENSG00000121335 tier1 15 0 0.00 10 10 50.00 PRDM15 0 genome.wustl.edu 37 21 43220665 43220665 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 43220665 43220665 A - DEL PRDM15 ENST00000470586 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors PRDM15 HGNC ENSG00000141956 tier1 12 0 0.00 12 6 33.33 PREX2 0 genome.wustl.edu 37 8 68956723 68956723 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 68956723 68956723 C T SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.841 p.R281W 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 tier1 - - 49 0 0.00 73 33 31.13 PRKCDBP 0 genome.wustl.edu 37 11 6340635 6340635 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 6340635 6340635 C T SNP PRKCDBP ENST00000303927 human ensembl 74_37 -1 known missense c.544 p.G182R 0.654 NULL NULL - no_errors PRKCDBP HGNC ENSG00000170955 tier1 - - 20 0 0.00 5 7 58.33 PRKCZ 0 genome.wustl.edu 37 1 2116115 2116115 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 2116115 2116115 G A SNP PRKCZ ENST00000378567 human ensembl 74_37 +1 known missense c.1669 p.V557M 0.996 pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_PKC_zeta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCZ HGNC ENSG00000067606 tier1 - - 46 0 0.00 27 25 48.08 PRKD2 0 genome.wustl.edu 37 19 47177940 47177940 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 47177940 47177940 C T SNP PRKD2 ENST00000291281 human ensembl 74_37 -1 known missense c.2477 p.R826Q 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD2 HGNC ENSG00000105287 tier1 - - 35 0 0.00 20 14 41.18 PRKDC 0 genome.wustl.edu 37 8 48691161 48691161 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 48691161 48691161 G A SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known silent c.11709 p.F3903 0.018 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 tier1 - - 30 0 0.00 39 6 13.33 PRKDC 0 genome.wustl.edu 37 8 48734354 48734354 + Splice_Site SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 48734354 48734354 C A SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known splice_site c.8920-1 e66-1 1.000 - - - no_errors PRKDC HGNC ENSG00000253729 tier1 - - 54 0 0.00 57 20 25.97 PROB1 0 genome.wustl.edu 37 5 138729809 138729809 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 138729809 138729809 C T SNP PROB1 ENST00000434752 human ensembl 74_37 -1 known missense c.962 p.R321H 1.000 NULL NULL - no_errors PROB1 HGNC ENSG00000228672 tier1 - - 71 0 0.00 31 49 61.25 PRODH 0 genome.wustl.edu 37 22 18918568 18918568 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 18918568 18918568 G A SNP PRODH ENST00000357068 human ensembl 74_37 -1 known silent c.417 p.S139 1.000 NULL pfam_Proline_DH - no_errors PRODH HGNC ENSG00000100033 tier1 - - 46 0 0.00 30 17 36.17 PROKR1 0 genome.wustl.edu 37 2 68882356 68882356 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 68882356 68882356 G A SNP PROKR1 ENST00000303786 human ensembl 74_37 +1 known missense c.830 p.R277H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR1 HGNC ENSG00000169618 tier1 - - 59 0 0.00 31 23 42.59 PROM2 0 genome.wustl.edu 37 2 95947697 95947697 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 95947697 95947697 C - DEL PROM2 ENST00000317620 human ensembl 74_37 +1 known frame_shift_del c.1576 p.P527fs 0.998 pfam_Prominin pfam_Prominin - no_errors PROM2 HGNC ENSG00000155066 tier1 93 0 0.00 30 6 16.67 PROSC 0 genome.wustl.edu 37 8 37633479 37633479 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 37633479 37633479 T C SNP PROSC ENST00000328195 human ensembl 74_37 +1 known missense c.641 p.I214T 0.074 pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001 pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001 - no_errors PROSC HGNC ENSG00000147471 tier1 - - 79 0 0.00 79 5 5.95 PROSER1 0 genome.wustl.edu 37 13 39586344 39586344 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 39586344 39586344 C A SNP PROSER1 ENST00000352251 human ensembl 74_37 -1 known missense c.2588 p.G863V 1.000 NULL NULL - no_errors PROSER1 HGNC ENSG00000120685 tier1 - - 19 0 0.00 25 18 41.86 PROZ 0 genome.wustl.edu 37 13 113826331 113826331 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 113826331 113826331 G T SNP PROZ ENST00000375547 human ensembl 74_37 +1 known missense c.1115 p.G372V 0.000 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Peptidase_S1,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors PROZ HGNC ENSG00000126231 65 0 0.00 76 4 5.00 PRR12 0 genome.wustl.edu 37 19 50119416 50119416 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 50119416 50119416 G - DEL PRR12 ENST00000418929 human ensembl 74_37 +1 novel frame_shift_del c.5437 p.G1814fs 0.759 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 tier1 64 0 0.00 30 27 47.37 PRR14 0 genome.wustl.edu 37 16 30664143 30664143 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 30664143 30664143 C T SNP PRR14 ENST00000300835 human ensembl 74_37 +1 known silent c.294 p.A98 0.000 NULL NULL - no_errors PRR14 HGNC ENSG00000156858 tier1 - - 115 0 0.00 50 27 35.06 PRR15 0 genome.wustl.edu 37 7 29606191 29606191 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 29606191 29606191 C T SNP PRR15 ENST00000319694 human ensembl 74_37 +1 known silent c.246 p.S82 0.000 NULL NULL - no_errors PRR15 HGNC ENSG00000176532 tier1 - - 25 0 0.00 17 11 39.29 PRR23A 0 genome.wustl.edu 37 3 138724365 138724365 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 138724365 138724365 G A SNP PRR23A ENST00000383163 human ensembl 74_37 -1 known missense c.746 p.P249L 0.009 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23A HGNC ENSG00000206260 tier1 - - 48 0 0.00 24 33 57.89 PRR5L 0 genome.wustl.edu 37 11 36397656 36397656 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 36397656 36397656 T - DEL PRR5L ENST00000389693 human ensembl 74_37 +1 known rna NULL NULL 0.023 - - - no_errors PRR5L HGNC ENSG00000135362 tier1 47 0 0.00 38 22 36.67 PRRC2C 0 genome.wustl.edu 37 1 171514769 171514769 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 171514769 171514769 A - DEL PRRC2C ENST00000392078 human ensembl 74_37 +1 known frame_shift_del c.4915 p.K1640fs 1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 tier1 34 0 0.00 41 12 22.64 PRRT2 0 genome.wustl.edu 37 16 29825042 29825042 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 29825042 29825042 G A SNP PRRT2 ENST00000567659 human ensembl 74_37 +1 known missense c.667 p.V223I 1.000 NULL pfam_CD225/Dispanin_fam - no_errors PRRT2 HGNC ENSG00000167371 tier1 - - 46 0 0.00 31 14 31.11 PRSS3 0 genome.wustl.edu 37 9 33794798 33794799 + Frame_Shift_Del DEL GA GA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 33794798 33794799 GA - DEL PRSS3 ENST00000342836 human ensembl 74_37 +1 known frame_shift_del c.9_10 p.E5fs 0.000:0.001 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS3 HGNC ENSG00000010438 tier1 30 0 0.00 28 4 12.50 PRSS36 0 genome.wustl.edu 37 16 31154684 31154684 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 31154684 31154684 G A SNP PRSS36 ENST00000268281 human ensembl 74_37 -1 known missense c.1079 p.A360V 0.992 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS36 HGNC ENSG00000178226 tier1 - - 81 0 0.00 28 25 47.17 PRX 0 genome.wustl.edu 37 19 40901307 40901307 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 40901307 40901307 G A SNP PRX ENST00000324001 human ensembl 74_37 -1 known silent c.2952 p.G984 0.032 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 tier1 - - 43 0 0.00 11 11 50.00 PSD3 0 genome.wustl.edu 37 8 18490296 18490297 + Frame_Shift_Del DEL TT TT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 18490296 18490297 TT - DEL PSD3 ENST00000440756 human ensembl 74_37 -1 known frame_shift_del c.2243_2242 p.K748fs 1.000:1.000 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors PSD3 HGNC ENSG00000156011 tier1 64 0 0.00 101 21 17.21 PSD4 0 genome.wustl.edu 37 2 113955413 113955413 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 113955413 113955413 C T SNP PSD4 ENST00000245796 human ensembl 74_37 +1 known silent c.2547 p.P849 0.017 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,prints_PH_dom-spectrin-type pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD4 HGNC ENSG00000125637 tier1 - - 38 0 0.00 18 13 41.94 PSENEN 0 genome.wustl.edu 37 19 36237526 36237526 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 36237526 36237526 C T SNP PSENEN ENST00000591949 human ensembl 74_37 +1 putative silent c.268 p.L90 0.000 NULL pfam_Gamma_Secretase_Asp_P_PEN2 - no_errors PSENEN HGNC ENSG00000205155 tier1 - - 51 0 0.00 32 22 40.74 PSMB9 0 genome.wustl.edu 37 6 32827216 32827216 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 32827216 32827216 C T SNP PSMB9 ENST00000374859 human ensembl 74_37 +1 known silent c.567 p.S189 0.998 pfam_Proteasome_sua/b,prints_Pept_T1A_subB pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB9 HGNC ENSG00000240065 tier1 - - 57 0 0.00 14 49 77.78 PSMC4 0 genome.wustl.edu 37 19 40480653 40480654 + Frame_Shift_Ins INS - - CC TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 40480653 40480654 - CC INS PSMC4 ENST00000157812 human ensembl 74_37 +1 known frame_shift_ins c.591_592 p.R199fs 0.585:0.996 superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC4 HGNC ENSG00000013275 tier1 31 0 0.00 27 6 18.18 PSMD1 0 genome.wustl.edu 37 2 231943429 231943429 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 231943429 231943429 G T SNP PSMD1 ENST00000308696 human ensembl 74_37 +1 known missense c.1128 p.M376I 1.000 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2 pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2 - no_errors PSMD1 HGNC ENSG00000173692 tier1 - - 84 0 0.00 91 5 5.21 PSMD6 0 genome.wustl.edu 37 3 64008326 64008326 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 64008326 64008326 C T SNP PSMD6 ENST00000492933 human ensembl 74_37 -1 novel missense c.297 p.M99I 0.000 NULL pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom - no_errors PSMD6 HGNC ENSG00000163636 tier1 - - 49 0 0.00 18 13 41.94 PSME4 0 genome.wustl.edu 37 2 54092486 54092487 + RNA DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 54092486 54092487 AA - DEL PSME4 ENST00000476586 human ensembl 74_37 -1 known rna NULL NULL 0.998:0.999 - - - no_errors PSME4 HGNC ENSG00000068878 tier1 29 0 0.00 19 8 29.63 PSORS1C1 0 genome.wustl.edu 37 6 31107581 31107581 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 31107581 31107581 C T SNP PSORS1C1 ENST00000259881 human ensembl 74_37 +1 known missense c.331 p.L111F 0.007 NULL NULL - no_errors PSORS1C1 HGNC ENSG00000204540 tier1 - - 89 0 0.00 56 38 40.43 PSPH 0 genome.wustl.edu 37 7 56079283 56079286 + RNA DEL AAAA AAAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 56079283 56079286 AAAA - DEL PSPH ENST00000459834 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.001:0.001:0.001 - - - no_errors PSPH HGNC ENSG00000146733 tier1 24 0 0.00 11 5 31.25 PSPH 0 genome.wustl.edu 37 7 56087302 56087302 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 56087302 56087302 G T SNP PSPH ENST00000275605 human ensembl 74_37 -1 known missense c.266 p.P89H 0.996 pfam_HAD-like_dom,pfam_Pyrimidine_nucleotidase_eu,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like pfam_HAD-like_dom,pfam_Pyrimidine_nucleotidase_eu,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like - no_errors PSPH HGNC ENSG00000146733 tier1 - - 60 0 0.00 48 4 7.69 PSTPIP1 0 genome.wustl.edu 37 15 77310871 77310874 + Frame_Shift_Del DEL AAGT AAGT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAGT AAGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 77310871 77310874 AAGT - DEL PSTPIP1 ENST00000559785 human ensembl 74_37 +1 known frame_shift_del c.406_407 p.N136fs 1.000:1.000 pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom - no_errors PSTPIP1 HGNC ENSG00000140368 tier1 42 0 0.00 26 9 25.71 PTCH1 0 genome.wustl.edu 37 9 98209585 98209585 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 98209585 98209585 G A SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known missense c.3953 p.P1318L 1.000 NULL pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 tier1 - - 92 0 0.00 48 37 43.02 PTCHD3 0 genome.wustl.edu 37 10 27702455 27702455 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 27702455 27702455 G A SNP PTCHD3 ENST00000438700 human ensembl 74_37 -1 known missense c.725 p.A242V 0.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 tier1 - - 56 0 0.00 20 16 44.44 PTCHD3 0 genome.wustl.edu 37 10 27702750 27702750 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 27702750 27702750 C T SNP PTCHD3 ENST00000438700 human ensembl 74_37 -1 known missense c.430 p.A144T 0.012 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 tier1 - - 55 0 0.00 16 19 54.29 PTENP1 0 genome.wustl.edu 37 9 33674344 33674347 + RNA DEL TTTT TTTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTTT TTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 33674344 33674347 TTTT - DEL PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.837:0.842:0.847:0.852 - - - no_errors PTENP1 HGNC ENSG00000237984 tier1 20 0 0.00 19 5 20.83 PTENP1 0 genome.wustl.edu 37 9 33675326 33675326 + RNA SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 33675326 33675326 T C SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PTENP1 HGNC ENSG00000237984 tier1 - - 26 0 0.00 25 4 13.79 PTENP1 0 genome.wustl.edu 37 9 33675365 33675365 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 33675365 33675365 A - DEL PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors PTENP1 HGNC ENSG00000237984 tier1 34 0 0.00 26 18 40.91 PTENP1 0 genome.wustl.edu 37 9 33675379 33675379 + RNA SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 33675379 33675379 C A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors PTENP1 HGNC ENSG00000237984 tier1 - - 41 0 0.00 38 7 15.56 PTENP1 0 genome.wustl.edu 37 9 33675400 33675400 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 33675400 33675400 G A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PTENP1 HGNC ENSG00000237984 tier1 - - 51 0 0.00 48 5 9.43 PTGFR 0 genome.wustl.edu 37 1 78959098 78959098 + Nonsense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 78959098 78959098 G T SNP PTGFR ENST00000370757 human ensembl 74_37 +1 known nonsense c.670 p.G224* 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_PglndnF_rcpt,prints_Prostanoid_rcpt,prints_Thbox_rcpt,prints_GPCR_Rhodpsn - no_errors PTGFR HGNC ENSG00000122420 15 0 0.00 35 2 5.41 PTGFRN 0 genome.wustl.edu 37 1 117504097 117504097 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 117504097 117504097 G T SNP PTGFRN ENST00000393203 human ensembl 74_37 +1 known silent c.1446 p.R482 0.999 smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PTGFRN HGNC ENSG00000134247 tier1 - - 66 0 0.00 37 4 9.76 PTH1R 0 genome.wustl.edu 37 3 46943307 46943307 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 46943307 46943307 C T SNP PTH1R ENST00000313049 human ensembl 74_37 +1 known missense c.1168 p.R390W 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt - no_errors PTH1R HGNC ENSG00000160801 tier1 rs199627585 - 59 0 0.00 39 16 29.09 PTK2 0 genome.wustl.edu 37 8 141754889 141754891 + RNA DEL AAA AAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 141754889 141754891 AAA - DEL PTK2 ENST00000518509 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.004:0.005 - - - no_errors PTK2 HGNC ENSG00000169398 tier1 23 0 0.00 26 7 21.21 PTK2B 0 genome.wustl.edu 37 8 27294938 27294938 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 27294938 27294938 G A SNP PTK2B ENST00000346049 human ensembl 74_37 +1 known silent c.1452 p.P484 0.091 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2B HGNC ENSG00000120899 tier1 - - 42 0 0.00 33 19 36.54 PTK7 0 genome.wustl.edu 37 6 43098360 43098360 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 43098360 43098360 G T SNP PTK7 ENST00000230419 human ensembl 74_37 +1 known missense c.773 p.W258L 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Immunoglobulin,pfam_Prot_kinase_dom,pfam_Ig_V-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_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK7 HGNC ENSG00000112655 tier1 - - 46 0 0.00 40 4 9.09 PTN 0 genome.wustl.edu 37 7 136920962 136920962 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 136920962 136920962 C T SNP PTN ENST00000393083 human ensembl 74_37 -1 novel missense c.479 p.G160E 0.000 NULL pfam_PTN/MK_C_dom,pfam_PTN/MK_N_dom,superfamily_PTN/MK_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF - no_errors PTN HGNC ENSG00000105894 tier1 - - 72 0 0.00 54 15 21.74 PTOV1 0 genome.wustl.edu 37 19 50363527 50363527 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 50363527 50363527 G - DEL PTOV1 ENST00000391842 human ensembl 74_37 +1 known frame_shift_del c.1242 p.*417fs 1.000 NULL pfam_Mediator_Med25 - no_errors PTOV1 HGNC ENSG00000104960 tier1 52 0 0.00 26 13 33.33 PTPN1 0 genome.wustl.edu 37 20 49197838 49197838 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 49197838 49197838 G - DEL PTPN1 ENST00000371621 human ensembl 74_37 +1 known frame_shift_del c.1125 p.G377fs 0.004 pirsf_Ptpn1/Ptpn2 pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN1 HGNC ENSG00000196396 tier1 48 0 0.00 26 8 23.53 PTPN1 0 genome.wustl.edu 37 20 49197980 49197980 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 49197980 49197980 G A SNP PTPN1 ENST00000371621 human ensembl 74_37 +1 known missense c.1267 p.A423T 1.000 pirsf_Ptpn1/Ptpn2 pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN1 HGNC ENSG00000196396 tier1 - - 28 0 0.00 22 9 29.03 PTPN14 0 genome.wustl.edu 37 1 214560191 214560191 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 214560191 214560191 C T SNP PTPN14 ENST00000366956 human ensembl 74_37 -1 known silent c.1062 p.S354 0.007 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC ENSG00000152104 tier1 - - 91 0 0.00 115 20 14.81 PTPN20A 0 genome.wustl.edu 37 10 46584455 46584455 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 46584455 46584455 T 0 DEL PTPN20A ENST00000374339 human ensembl 74_37 -1 known frame_shift_del c.560 p.N187fs 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN20A HGNC ENSG00000204179 56 0 0.00 60 7 10.45 PTPN6 0 genome.wustl.edu 37 12 7069948 7069948 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 7069948 7069948 C - DEL PTPN6 ENST00000456013 human ensembl 74_37 +1 known frame_shift_del c.1796 p.L601fs 0.004 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN6 HGNC ENSG00000111679 tier1 44 0 0.00 29 37 56.06 PTPRD 0 genome.wustl.edu 37 9 8449822 8449822 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 8449822 8449822 G A SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known silent c.3891 p.S1297 0.031 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 tier1 - - 141 0 0.00 93 73 43.98 PTPRE 0 genome.wustl.edu 37 10 129877846 129877846 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 129877846 129877846 A G SNP PTPRE ENST00000254667 human ensembl 74_37 +1 known missense c.1915 p.T639A 0.997 pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRE HGNC ENSG00000132334 tier1 - - 80 0 0.00 55 35 38.89 PTPRM 0 genome.wustl.edu 37 18 8380293 8380293 + Splice_Site SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 8380293 8380293 G T SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known splice_site c.3790-1 e29-1 1.000 - - - no_errors PTPRM HGNC ENSG00000173482 tier1 - - 55 0 0.00 65 4 5.80 PTPRN 0 genome.wustl.edu 37 2 220173969 220173969 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 220173969 220173969 G A SNP PTPRN ENST00000295718 human ensembl 74_37 -1 known missense c.86 p.P29L 0.991 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN HGNC ENSG00000054356 22 0 0.00 13 9 40.91 PTPRQ 0 genome.wustl.edu 37 12 80935458 80935458 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 80935458 80935458 G T SNP PTPRQ ENST00000266688 human ensembl 74_37 +1 known missense c.3267 p.Q1089H 0.994 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRQ HGNC ENSG00000139304 tier1 - - 41 0 0.00 29 4 12.12 PTPRS 0 genome.wustl.edu 37 19 5239054 5239054 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 5239054 5239054 C T SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known silent c.1728 p.P576 0.008 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 tier1 - - 47 0 0.00 32 9 21.95 PTPRT 0 genome.wustl.edu 37 20 40757467 40757467 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 40757467 40757467 T C SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.2831 p.D944G 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 tier1 - - 28 0 0.00 13 6 31.58 PTPRT 0 genome.wustl.edu 37 20 41101109 41101109 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 41101109 41101109 C T SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.1247 p.R416H 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 tier1 - - 58 0 0.00 29 25 46.30 PTPRU 0 genome.wustl.edu 37 1 29586017 29586017 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 29586017 29586017 G A SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known missense c.616 p.A206T 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 tier1 - - 40 0 0.00 15 10 40.00 PTPRZ1 0 genome.wustl.edu 37 7 121513467 121513468 + RNA INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 121513467 121513468 - A INS PTPRZ1 ENST00000471837 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors PTPRZ1 HGNC ENSG00000106278 tier1 28 0 0.00 14 14 50.00 PTRH1 0 genome.wustl.edu 37 9 130477482 130477482 + RNA SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 130477482 130477482 G T SNP PTRH1 ENST00000416214 human ensembl 74_37 -1 known rna NULL NULL 0.016 - - - no_errors PTRH1 HGNC ENSG00000187024 tier1 - - 54 0 0.00 31 4 11.43 PTRHD1 0 genome.wustl.edu 37 2 25013357 25013357 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 25013357 25013357 C T SNP PTRHD1 ENST00000328379 human ensembl 74_37 -1 known missense c.346 p.A116T 0.236 pfam_PTH2,superfamily_Pep_tRNA_hydro_II_dom pfam_PTH2,superfamily_Pep_tRNA_hydro_II_dom - no_errors PTRHD1 HGNC ENSG00000184924 tier1 - - 110 0 0.00 76 52 40.62 PUF60 0 genome.wustl.edu 37 8 144904053 144904053 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 144904053 144904053 G T SNP PUF60 ENST00000526683 human ensembl 74_37 -1 known missense c.142 p.Q48K 1.000 tigrfam_PolyU-bd pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd - no_errors PUF60 HGNC ENSG00000179950 tier1 - - 40 0 0.00 51 4 7.27 PUF60 0 genome.wustl.edu 37 8 144904656 144904656 + RNA SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 144904656 144904656 C A SNP PUF60 ENST00000524570 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PUF60 HGNC ENSG00000179950 tier1 - - 58 0 0.00 50 24 32.43 PVRL1 0 genome.wustl.edu 37 11 119549323 119549323 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 119549323 119549323 C T SNP PVRL1 ENST00000264025 human ensembl 74_37 -1 known missense c.232 p.V78M 1.000 pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PVRL1 HGNC ENSG00000110400 tier1 - - 21 0 0.00 15 13 46.43 PXDNL 0 genome.wustl.edu 37 8 52321321 52321321 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 52321321 52321321 G T SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.2863 p.L955M 0.997 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 tier1 - - 58 0 0.00 46 10 17.86 PXDNL 0 genome.wustl.edu 37 8 52321614 52321614 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 52321614 52321614 G A SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.2570 p.A857V 0.064 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 tier1 - - 40 0 0.00 15 5 25.00 PXK 0 genome.wustl.edu 37 3 58382896 58382896 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 58382896 58382896 G A SNP PXK ENST00000356151 human ensembl 74_37 +1 known missense c.953 p.R318Q 0.998 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom pfam_Phox,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Phox,superfamily_Kinase-like_dom,smart_Phox,pfscan_Phox,pfscan_WH2_dom,pfscan_Prot_kinase_dom - no_errors PXK HGNC ENSG00000168297 tier1 - - 41 0 0.00 23 21 47.73 PYGL 0 genome.wustl.edu 37 14 51387719 51387719 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 51387719 51387719 G A SNP PYGL ENST00000216392 human ensembl 74_37 -1 known missense c.727 p.R243C 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGL HGNC ENSG00000100504 tier1 - - 79 0 0.00 30 22 41.51 PYGM 0 genome.wustl.edu 37 11 64525786 64525786 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 64525786 64525786 C T SNP PYGM ENST00000164139 human ensembl 74_37 -1 known missense c.460 p.A154T 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGM HGNC ENSG00000068976 tier1 - - 115 0 0.00 72 32 30.77 PYGO2 0 genome.wustl.edu 37 1 154932071 154932071 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 154932071 154932071 G - DEL PYGO2 ENST00000368457 human ensembl 74_37 -1 known frame_shift_del c.405 p.F136fs 0.991 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PYGO2 HGNC ENSG00000163348 tier1 12 0 0.00 17 4 19.05 PYGO2 0 genome.wustl.edu 37 1 154932071 154932071 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 154932071 154932071 G A SNP PYGO2 ENST00000368457 human ensembl 74_37 -1 known silent c.405 p.P135 0.991 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PYGO2 HGNC ENSG00000163348 12 0 0.00 15 2 9.52 QRFPR 0 genome.wustl.edu 37 4 122250816 122250816 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 122250816 122250816 C T SNP QRFPR ENST00000394427 human ensembl 74_37 -1 known missense c.949 p.V317M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors QRFPR HGNC ENSG00000186867 tier1 - - 31 0 0.00 18 14 43.75 QRFPR 0 genome.wustl.edu 37 4 122254190 122254190 + Nonsense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 122254190 122254190 C A SNP QRFPR ENST00000394427 human ensembl 74_37 -1 known nonsense c.583 p.E195* 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors QRFPR HGNC ENSG00000186867 tier1 - - 36 0 0.00 24 18 42.86 R3HDM2 0 genome.wustl.edu 37 12 57704152 57704152 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 57704152 57704152 T - DEL R3HDM2 ENST00000347140 human ensembl 74_37 -1 known frame_shift_del c.60 p.K20fs 0.985 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM2 HGNC ENSG00000179912 tier1 91 0 0.00 60 44 42.31 R3HDML 0 genome.wustl.edu 37 20 42972026 42972026 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 42972026 42972026 C T SNP R3HDML ENST00000217043 human ensembl 74_37 +1 known silent c.390 p.S130 0.000 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors R3HDML HGNC ENSG00000101074 tier1 - - 86 0 0.00 46 28 37.84 RAB11FIP1 0 genome.wustl.edu 37 8 37729770 37729770 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 37729770 37729770 G A SNP RAB11FIP1 ENST00000330843 human ensembl 74_37 -1 known silent c.2550 p.D850 0.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP1 HGNC ENSG00000156675 tier1 rs142300397 - 54 0 0.00 50 15 23.08 RAB11FIP5 0 genome.wustl.edu 37 2 73316229 73316229 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 73316229 73316229 C T SNP RAB11FIP5 ENST00000258098 human ensembl 74_37 -1 known missense c.646 p.A216T 0.999 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP5 HGNC ENSG00000135631 tier1 - - 85 0 0.00 32 18 36.00 RAB36 0 genome.wustl.edu 37 22 23503101 23503101 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 23503101 23503101 G A SNP RAB36 ENST00000263116 human ensembl 74_37 +1 known missense c.853 p.A285T 0.459 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB36 HGNC ENSG00000100228 tier1 - - 59 0 0.00 27 21 43.75 RAB40C 0 genome.wustl.edu 37 16 677355 677355 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 677355 677355 G T SNP RAB40C ENST00000248139 human ensembl 74_37 +1 known missense c.579 p.Q193H 1.000 pfam_SOCS_C,superfamily_P-loop_NTPase,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB40C HGNC ENSG00000197562 53 0 0.00 42 5 10.64 RAB6C 0 genome.wustl.edu 37 2 130738037 130738037 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 130738037 130738037 A G SNP RAB6C ENST00000410061 human ensembl 74_37 +1 known missense c.349 p.S117G 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,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 RAB6C HGNC ENSG00000222014 tier1 - - 127 0 0.00 100 6 5.66 RABEP1 0 genome.wustl.edu 37 17 5239900 5239900 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 5239900 5239900 T - DEL RABEP1 ENST00000570487 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RABEP1 HGNC ENSG00000029725 tier1 8 0 0.00 6 4 40.00 RABGAP1 0 genome.wustl.edu 37 9 125827753 125827754 + Frame_Shift_Del DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 125827753 125827754 AA - DEL RABGAP1 ENST00000456584 human ensembl 74_37 +1 known frame_shift_del c.1717_1718 p.K576fs 0.000:0.000 pfscan_Rab-GTPase-TBC_dom pfam_Kinesin-like,pfam_Rab-GTPase-TBC_dom,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 tier1 30 0 0.00 24 13 35.14 RABGAP1 0 genome.wustl.edu 37 9 125865461 125865461 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 125865461 125865461 C T SNP RABGAP1 ENST00000373647 human ensembl 74_37 +1 known missense c.3179 p.A1060V 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 tier1 - - 67 0 0.00 54 24 30.77 RABL2A 0 genome.wustl.edu 37 2 114400756 114400756 + RNA SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 114400756 114400756 T C SNP RABL2A ENST00000478880 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RABL2A HGNC ENSG00000144134 tier1 - - 122 0 0.00 81 6 5.26 RAD50 0 genome.wustl.edu 37 5 131931452 131931452 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 131931452 131931452 A - DEL RAD50 ENST00000265335 human ensembl 74_37 +1 known frame_shift_del c.2157 p.K722fs 0.997 superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes - no_errors RAD50 HGNC ENSG00000113522 tier1 21 0 0.00 20 5 20.00 RAD50 0 genome.wustl.edu 37 5 131944382 131944382 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 131944382 131944382 A - DEL RAD50 ENST00000265335 human ensembl 74_37 +1 known frame_shift_del c.2794 p.N934fs 1.000 superfamily_P-loop_NTPase,tigrfam_Rad50_eukaryotes pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes - no_errors RAD50 HGNC ENSG00000113522 tier1 61 0 0.00 42 23 35.38 RAD51AP2 0 genome.wustl.edu 37 2 17698736 17698737 + Frame_Shift_Ins INS - - T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 17698736 17698737 - T INS RAD51AP2 ENST00000399080 human ensembl 74_37 -1 known frame_shift_ins c.947_946 p.T316fs 0.000:0.003 NULL NULL - no_errors RAD51AP2 HGNC ENSG00000214842 tier1 102 0 0.00 71 33 31.73 RAD54L2 0 genome.wustl.edu 37 3 51679780 51679780 + Splice_Site SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 51679780 51679780 G T SNP RAD54L2 ENST00000409535 human ensembl 74_37 +1 known splice_site c.2829+1 e16+1 1.000 - - - no_errors RAD54L2 HGNC ENSG00000164080 66 0 0.00 64 4 5.88 RAE1 0 genome.wustl.edu 37 20 55929119 55929119 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 55929119 55929119 G T SNP RAE1 ENST00000371242 human ensembl 74_37 +1 known missense c.25 p.G9C 0.998 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RAE1 HGNC ENSG00000101146 tier1 - - 83 0 0.00 66 4 5.71 RAI1 0 genome.wustl.edu 37 17 17696716 17696716 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 17696716 17696716 C - DEL RAI1 ENST00000353383 human ensembl 74_37 +1 known frame_shift_del c.454 p.S154fs 1.000 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 tier1 53 0 0.00 22 12 35.29 RALA 0 genome.wustl.edu 37 7 39745766 39745766 + Silent SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 39745766 39745766 A G SNP RALA ENST00000005257 human ensembl 74_37 +1 known silent c.543 p.E181 1.000 superfamily_P-loop_NTPase,smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RALA HGNC ENSG00000006451 tier1 - - 13 0 0.00 13 7 35.00 RALGAPA1 0 genome.wustl.edu 37 14 36041863 36041863 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 36041863 36041863 C T SNP RALGAPA1 ENST00000258840 human ensembl 74_37 -1 known missense c.5894 p.R1965K 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA1 HGNC ENSG00000174373 tier1 - - 89 0 0.00 68 45 39.82 RAN 0 genome.wustl.edu 37 12 131357571 131357571 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 131357571 131357571 C A SNP RAN ENST00000392369 human ensembl 74_37 +1 known missense c.145 p.P49T 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAN HGNC ENSG00000132341 tier1 - - 64 0 0.00 41 27 39.71 RAN 0 genome.wustl.edu 37 12 131357587 131357587 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 131357587 131357587 C A SNP RAN ENST00000392369 human ensembl 74_37 +1 known missense c.161 p.T54N 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAN HGNC ENSG00000132341 70 0 0.00 54 3 5.26 RANBP17 0 genome.wustl.edu 37 5 170319432 170319432 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 170319432 170319432 G T SNP RANBP17 ENST00000523189 human ensembl 74_37 +1 known missense c.298 p.A100S 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors RANBP17 HGNC ENSG00000204764 tier1 - - 59 0 0.00 67 4 5.63 RANBP2 0 genome.wustl.edu 37 2 109371641 109371641 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 109371641 109371641 A G SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.2392 p.K798E 1.000 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 tier1 - - 273 0 0.00 344 38 9.95 RANBP2 0 genome.wustl.edu 37 2 109368085 109368085 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 109368085 109368085 G A SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known silent c.1557 p.V519 0.942 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 92 0 0.00 98 14 12.50 RANGAP1 0 genome.wustl.edu 37 22 41677046 41677046 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 41677046 41677046 C A SNP RANGAP1 ENST00000356244 human ensembl 74_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RANGAP1 HGNC ENSG00000100401 tier1 - - 37 0 0.00 26 17 39.53 RAPGEF1 0 genome.wustl.edu 37 9 134464198 134464198 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 134464198 134464198 C - DEL RAPGEF1 ENST00000372190 human ensembl 74_37 -1 known frame_shift_del c.2539 p.V847fs 0.997 superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF1 HGNC ENSG00000107263 tier1 162 0 0.00 60 49 44.95 RAPGEF1 0 genome.wustl.edu 37 9 134504583 134504583 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 134504583 134504583 T C SNP RAPGEF1 ENST00000372190 human ensembl 74_37 -1 known missense c.802 p.M268V 0.008 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF1 HGNC ENSG00000107263 tier1 - - 120 0 0.00 80 32 28.57 RARG 0 genome.wustl.edu 37 12 53613976 53613977 + Frame_Shift_Ins INS - - G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 53613976 53613977 - G INS RARG ENST00000543726 human ensembl 74_37 -1 known frame_shift_ins c.25_24 p.C8fs 0.999:1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARG HGNC ENSG00000172819 tier1 49 0 0.00 29 10 25.64 RASGRF1 0 genome.wustl.edu 37 15 79292168 79292168 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 79292168 79292168 G T SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known missense c.2711 p.S904Y 0.998 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 tier1 - - 85 0 0.00 71 4 5.33 RASIP1 0 genome.wustl.edu 37 19 49238616 49238616 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 49238616 49238616 T C SNP RASIP1 ENST00000222145 human ensembl 74_37 -1 known missense c.1016 p.Q339R 1.000 NULL pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc - no_errors RASIP1 HGNC ENSG00000105538 tier1 - - 102 0 0.00 44 23 34.33 RASL10B 0 genome.wustl.edu 37 17 34067487 34067487 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 34067487 34067487 C T SNP RASL10B ENST00000268864 human ensembl 74_37 +1 known silent c.276 p.Y92 1.000 pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RASL10B HGNC ENSG00000141150 tier1 - - 99 0 0.00 52 45 46.39 RASSF2 0 genome.wustl.edu 37 20 4771179 4771179 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 4771179 4771179 C T SNP RASSF2 ENST00000379376 human ensembl 74_37 -1 known missense c.455 p.R152H 1.000 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom - no_errors RASSF2 HGNC ENSG00000101265 tier1 - - 17 0 0.00 7 9 56.25 RAVER1 0 genome.wustl.edu 37 19 10434093 10434093 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 10434093 10434093 G - DEL RAVER1 ENST00000293677 human ensembl 74_37 -1 known frame_shift_del c.957 p.G320fs 0.211 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RAVER1 HGNC ENSG00000161847 tier1 35 0 0.00 13 10 43.48 RB1 0 genome.wustl.edu 37 13 48916753 48916753 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 48916753 48916753 A - DEL RB1 ENST00000267163 human ensembl 74_37 +1 known frame_shift_del c.283 p.K96fs 1.000 superfamily_Cyclin-like pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 tier1 63 0 0.00 53 47 47.00 RB1 0 genome.wustl.edu 37 13 48955496 48955496 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 48955496 48955496 G T SNP RB1 ENST00000267163 human ensembl 74_37 +1 known missense c.1612 p.A538S 1.000 pfam_RB_A,superfamily_Cyclin-like pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 tier1 - - 30 0 0.00 61 5 7.58 RB1 0 genome.wustl.edu 37 13 48916752 48916752 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 48916752 48916752 G A SNP RB1 ENST00000267163 human ensembl 74_37 +1 known silent c.282 p.K94 1.000 superfamily_Cyclin-like pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 62 0 0.00 90 7 7.07 RBBP6 0 genome.wustl.edu 37 16 24578711 24578711 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 24578711 24578711 A G SNP RBBP6 ENST00000319715 human ensembl 74_37 +1 known missense c.1837 p.T613A 0.406 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 tier1 - - 46 0 0.00 24 16 40.00 RBBP8 0 genome.wustl.edu 37 18 20596862 20596862 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 20596862 20596862 G T SNP RBBP8 ENST00000327155 human ensembl 74_37 +1 known missense c.2429 p.G810V 1.000 pfam_DNA-repair_Sae2/CtIP pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP - no_errors RBBP8 HGNC ENSG00000101773 37 0 0.00 29 2 6.45 RBM24 0 genome.wustl.edu 37 6 17292449 17292449 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 17292449 17292449 A - DEL RBM24 ENST00000508508 human ensembl 74_37 +1 known rna NULL NULL 0.915 - - - no_errors RBM24 HGNC ENSG00000112183 tier1 12 0 0.00 7 6 46.15 RBM27 0 genome.wustl.edu 37 5 145583379 145583379 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 145583379 145583379 G T SNP RBM27 ENST00000265271 human ensembl 74_37 +1 known silent c.51 p.L17 1.000 pfam_PWI_dom pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 tier1 - - 48 0 0.00 17 3 15.00 RBM27 0 genome.wustl.edu 37 5 145647320 145647320 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 145647320 145647320 A - DEL RBM27 ENST00000265271 human ensembl 74_37 +1 known frame_shift_del c.2440 p.K816fs 1.000 NULL pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 tier1 31 0 0.00 27 17 38.64 RBM46 0 genome.wustl.edu 37 4 155749056 155749056 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 155749056 155749056 C - DEL RBM46 ENST00000281722 human ensembl 74_37 +1 known frame_shift_del c.1439 p.P481fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM46 HGNC ENSG00000151962 tier1 53 0 0.00 31 14 31.11 RBM47 0 genome.wustl.edu 37 4 40434715 40434715 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 40434715 40434715 C T SNP RBM47 ENST00000295971 human ensembl 74_37 -1 known missense c.1495 p.A499T 0.953 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM47 HGNC ENSG00000163694 tier1 - - 59 0 0.00 37 27 42.19 RBM48 0 genome.wustl.edu 37 7 92164373 92164373 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 92164373 92164373 T - DEL RBM48 ENST00000481551 human ensembl 74_37 +1 novel frame_shift_del c.1106 p.H372fs 0.000 NULL NULL - no_errors RBM48 HGNC ENSG00000127993 tier1 70 0 0.00 54 6 10.00 RBM6 0 genome.wustl.edu 37 3 50005144 50005145 + Frame_Shift_Ins INS - - G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 50005144 50005145 - G INS RBM6 ENST00000266022 human ensembl 74_37 +1 known frame_shift_ins c.286_287 p.D99fs 1.000:1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 tier1 31 0 0.00 23 8 25.81 RBM6 0 genome.wustl.edu 37 3 50099450 50099450 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 50099450 50099450 A - DEL RBM6 ENST00000266022 human ensembl 74_37 +1 known frame_shift_del c.2495 p.K834fs 1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 tier1 40 0 0.00 29 14 32.56 RBMS1 0 genome.wustl.edu 37 2 161131038 161131039 + RNA DEL TT TT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 161131038 161131039 TT - DEL RBMS1 ENST00000474820 human ensembl 74_37 -1 known rna NULL NULL 0.037:0.044 - - - no_errors RBMS1 HGNC ENSG00000153250 tier1 36 0 0.00 42 14 25.00 RBMXL1 0 genome.wustl.edu 37 1 89449509 89449510 + Frame_Shift_Del DEL TT TT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 89449509 89449510 TT - DEL RBMXL1 ENST00000321792 human ensembl 74_37 -1 known frame_shift_del c.1 p.M1fs 0.986 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL1 HGNC ENSG00000213516 tier1 51 0 0.00 25 32 56.14 RC3H2 0 genome.wustl.edu 37 9 125621075 125621075 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 125621075 125621075 G T SNP RC3H2 ENST00000357244 human ensembl 74_37 -1 known missense c.2156 p.P719Q 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC ENSG00000056586 tier1 - - 62 0 0.00 42 4 8.70 RC3H2 0 genome.wustl.edu 37 9 125621243 125621243 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 125621243 125621243 G T SNP RC3H2 ENST00000357244 human ensembl 74_37 -1 known missense c.1988 p.P663H 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC ENSG00000056586 tier1 - - 55 0 0.00 45 4 8.16 RC3H2 0 genome.wustl.edu 37 9 125659702 125659702 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 125659702 125659702 G T SNP RC3H2 ENST00000357244 human ensembl 74_37 -1 known silent c.87 p.I29 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC ENSG00000056586 tier1 - - 51 0 0.00 68 4 5.56 RCBTB2 0 genome.wustl.edu 37 13 49085916 49085916 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 49085916 49085916 C T SNP RCBTB2 ENST00000430805 human ensembl 74_37 -1 known missense c.788 p.R263H 0.980 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCBTB2 HGNC ENSG00000136161 tier1 - - 40 0 0.00 46 22 32.35 RCSD1 0 genome.wustl.edu 37 1 167653202 167653202 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 167653202 167653202 C T SNP RCSD1 ENST00000367854 human ensembl 74_37 +1 known silent c.72 p.A24 0.042 NULL pfam_RCSD - no_errors RCSD1 HGNC ENSG00000198771 tier1 - - 57 0 0.00 72 17 19.10 RCSD1 0 genome.wustl.edu 37 1 167654702 167654702 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 167654702 167654702 C - DEL RCSD1 ENST00000367854 human ensembl 74_37 +1 known frame_shift_del c.153 p.L53fs 0.994 NULL pfam_RCSD - no_errors RCSD1 HGNC ENSG00000198771 tier1 51 0 0.00 54 19 26.03 RCVRN 0 genome.wustl.edu 37 17 9801324 9801325 + RNA INS - - GT TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 9801324 9801325 - GT INS RCVRN ENST00000570909 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.000 - - - no_errors RCVRN HGNC ENSG00000109047 tier1 52 0 0.00 34 5 12.82 RDH11 0 genome.wustl.edu 37 14 68157945 68157945 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 68157945 68157945 G A SNP RDH11 ENST00000381346 human ensembl 74_37 -1 known silent c.366 p.H122 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH11 HGNC ENSG00000072042 tier1 - - 45 0 0.00 32 10 23.81 RDH13 0 genome.wustl.edu 37 19 55570534 55570534 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 55570534 55570534 C T SNP RDH13 ENST00000415061 human ensembl 74_37 -1 known missense c.175 p.A59T 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH13 HGNC ENSG00000160439 tier1 - - 44 0 0.00 23 25 52.08 REC8 0 genome.wustl.edu 37 14 24642145 24642145 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 24642145 24642145 C - DEL REC8 ENST00000311457 human ensembl 74_37 +1 known frame_shift_del c.163 p.P56fs 0.808 pfam_Rad21_Rec8_N pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu - no_errors REC8 HGNC ENSG00000100918 tier1 35 0 0.00 22 3 12.00 RECK 0 genome.wustl.edu 37 9 36112461 36112461 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 36112461 36112461 A - DEL RECK ENST00000377966 human ensembl 74_37 +1 known frame_shift_del c.2048 p.N685fs 0.002 NULL pfam_Kazal_dom,superfamily_Prot_inh_PMP,smart_Kazal_dom - no_errors RECK HGNC ENSG00000122707 tier1 86 0 0.00 36 32 47.06 RENBP 0 genome.wustl.edu 37 X 153209096 153209096 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 153209096 153209096 C T SNP RENBP ENST00000393700 human ensembl 74_37 -1 known missense c.364 p.G122S 1.000 pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like - no_errors RENBP HGNC ENSG00000102032 tier1 - - 31 0 0.00 3 14 82.35 RESP18 0 genome.wustl.edu 37 2 220197269 220197269 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 220197269 220197269 C - DEL RESP18 ENST00000333527 human ensembl 74_37 -1 putative frame_shift_del c.209 p.G70fs 0.055 NULL NULL - no_errors RESP18 HGNC ENSG00000182698 tier1 62 0 0.00 26 17 39.53 RET 0 genome.wustl.edu 37 10 43600486 43600486 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 43600486 43600486 G A SNP RET ENST00000355710 human ensembl 74_37 +1 known missense c.712 p.E238K 0.319 pirsf_Tyr_kinase_Ret_rcpt,pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 tier1 - - 58 0 0.00 28 19 40.43 REV3L 0 genome.wustl.edu 37 6 111710326 111710326 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 111710326 111710326 C T SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.845 p.S282N 0.305 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 tier1 - - 82 0 0.00 85 8 8.60 REXO2 0 genome.wustl.edu 37 11 114320750 114320750 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 114320750 114320750 T - DEL REXO2 ENST00000544507 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors REXO2 HGNC ENSG00000076043 tier1 36 0 0.00 38 20 34.48 RFX2 0 genome.wustl.edu 37 19 6010242 6010242 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 6010242 6010242 G A SNP RFX2 ENST00000303657 human ensembl 74_37 -1 known missense c.920 p.T307M 0.999 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX2 HGNC ENSG00000087903 tier1 - - 84 0 0.00 64 56 46.28 RGS12 0 genome.wustl.edu 37 4 3432431 3432431 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 3432431 3432431 C - DEL RGS12 ENST00000344733 human ensembl 74_37 +1 known frame_shift_del c.3863 p.1292fs 0.000 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 tier1 28 0 0.00 9 6 40.00 RGS3 0 genome.wustl.edu 37 9 116276828 116276828 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 116276828 116276828 G A SNP RGS3 ENST00000350696 human ensembl 74_37 +1 known missense c.1568 p.G523E 0.796 NULL pfam_RGS_dom,pfam_C2_dom,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_dom,superfamily_PDZ,smart_C2_dom,smart_PDZ,smart_Regulat_G_prot_signal_superfam,pfscan_C2_dom,pfscan_PDZ,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS3 HGNC ENSG00000138835 tier1 - - 30 0 0.00 11 11 50.00 RGS9BP 0 genome.wustl.edu 37 19 33167776 33167777 + Frame_Shift_Del DEL GG GG - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 33167776 33167777 GG - DEL RGS9BP ENST00000334176 human ensembl 74_37 +1 known frame_shift_del c.607_608 p.G205fs 0.000:0.000 NULL NULL - no_errors RGS9BP HGNC ENSG00000186326 tier1 17 0 0.00 3 3 50.00 RGSL1 0 genome.wustl.edu 37 1 182440500 182440500 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 182440500 182440500 T C SNP RGSL1 ENST00000443996 human ensembl 74_37 +1 known missense c.385 p.S129P 0.552 superfamily_Regulat_G_prot_signal_superfam pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam - no_errors RGSL1 HGNC ENSG00000121446 tier1 - - 126 0 0.00 111 42 27.45 RHOBTB1 0 genome.wustl.edu 37 10 62645896 62645897 + Frame_Shift_Ins INS - - C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 62645896 62645897 - C INS RHOBTB1 ENST00000337910 human ensembl 74_37 -1 known frame_shift_ins c.1549_1548 p.S516fs 1.000:0.995 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB1 HGNC ENSG00000072422 tier1 89 0 0.00 60 26 30.23 RIC3 0 genome.wustl.edu 37 11 8161539 8161539 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 8161539 8161539 A - DEL RIC3 ENST00000309737 human ensembl 74_37 -1 known frame_shift_del c.326 p.L109fs 1.000 NULL NULL - no_errors RIC3 HGNC ENSG00000166405 tier1 53 0 0.00 47 22 31.88 RICTOR 0 genome.wustl.edu 37 5 38949530 38949530 + Splice_Site SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 38949530 38949530 C T SNP RICTOR ENST00000296782 human ensembl 74_37 -1 known splice_site c.4137-1 e32-1 1.000 - - - no_errors RICTOR HGNC ENSG00000164327 tier1 - - 66 0 0.00 138 16 10.39 RICTOR 0 genome.wustl.edu 37 5 38953112 38953113 + Frame_Shift_Ins INS - - T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 38953112 38953113 - T INS RICTOR ENST00000296782 human ensembl 74_37 -1 known frame_shift_ins c.2872_2871 p.Q957fs 1.000:1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 tier1 56 0 0.00 43 62 59.05 RICTOR 0 genome.wustl.edu 37 5 38954826 38954826 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 38954826 38954826 T - DEL RICTOR ENST00000503698 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RICTOR HGNC ENSG00000164327 tier1 29 0 0.00 32 22 40.74 RIMBP2 0 genome.wustl.edu 37 12 130892306 130892306 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 130892306 130892306 C T SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known missense c.2890 p.D964N 1.000 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 tier1 - - 174 0 0.00 94 77 45.03 RIMBP3 0 genome.wustl.edu 37 22 20456704 20456704 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 20456704 20456704 G A SNP RIMBP3 ENST00000426804 human ensembl 74_37 -1 known missense c.4598 p.A1533V 0.000 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,pfscan_SH3_domain - no_errors RIMBP3 HGNC ENSG00000196622 tier1 - - 68 0 0.00 27 39 59.09 RIMS1 0 genome.wustl.edu 37 6 73111346 73111347 + RNA INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 73111346 73111347 - A INS RIMS1 ENST00000431478 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors RIMS1 HGNC ENSG00000079841 tier1 24 0 0.00 5 10 66.67 RIN2 0 genome.wustl.edu 37 20 19956393 19956394 + Frame_Shift_Ins INS - - C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 19956393 19956394 - C INS RIN2 ENST00000255006 human ensembl 74_37 +1 known frame_shift_ins c.1871_1872 p.I627fs 1.000:0.882 NULL pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN2 HGNC ENSG00000132669 tier1 22 0 0.00 17 7 29.17 RIN2 0 genome.wustl.edu 37 20 19981678 19981678 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 19981678 19981678 C T SNP RIN2 ENST00000484638 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RIN2 HGNC ENSG00000132669 tier1 - - 11 0 0.00 6 4 40.00 RN7SL417P 0 genome.wustl.edu 37 15 84948894 84948894 + RNA SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 84948894 84948894 C A SNP RN7SL417P ENST00000459938 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors RN7SL417P HGNC ENSG00000244056 tier1 - - 46 0 0.00 31 4 11.43 RNASE2 0 genome.wustl.edu 37 14 21424213 21424213 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 21424213 21424213 C T SNP RNASE2 ENST00000304625 human ensembl 74_37 +1 known missense c.283 p.R95C 0.000 pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE2 HGNC ENSG00000169385 tier1 - - 61 0 0.00 37 22 37.29 RNASEH2B 0 genome.wustl.edu 37 13 51530587 51530587 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 51530587 51530587 A - DEL RNASEH2B ENST00000336617 human ensembl 74_37 +1 known frame_shift_del c.916 p.I309fs 0.153 NULL pfam_RNase_H2_suB - no_errors RNASEH2B HGNC ENSG00000136104 tier1 28 0 0.00 45 32 41.56 RNASEH2B 0 genome.wustl.edu 37 13 51530586 51530586 + Missense_Mutation SNP T T A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 51530586 51530586 T A SNP RNASEH2B ENST00000336617 human ensembl 74_37 +1 known missense c.915 p.N305K 0.023 NULL pfam_RNase_H2_suB - no_errors RNASEH2B HGNC ENSG00000136104 28 0 0.00 71 6 7.79 RNASEL 0 genome.wustl.edu 37 1 182555824 182555824 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 182555824 182555824 G T SNP RNASEL ENST00000367559 human ensembl 74_37 -1 known missense c.118 p.L40M 0.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_PUG-dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors RNASEL HGNC ENSG00000135828 tier1 - - 60 0 0.00 56 4 6.67 RNF111 0 genome.wustl.edu 37 15 59368393 59368393 + Nonsense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 59368393 59368393 C T SNP RNF111 ENST00000434298 human ensembl 74_37 +1 known nonsense c.1927 p.R643* 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC ENSG00000157450 tier1 - - 40 0 0.00 23 13 36.11 RNF111 0 genome.wustl.edu 37 15 59383348 59383348 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 59383348 59383348 A - DEL RNF111 ENST00000434298 human ensembl 74_37 +1 known frame_shift_del c.2761 p.K922fs 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC ENSG00000157450 tier1 15 0 0.00 19 12 38.71 RNF114 0 genome.wustl.edu 37 20 48568670 48568670 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 48568670 48568670 G A SNP RNF114 ENST00000244061 human ensembl 74_37 +1 known missense c.679 p.D227N 1.000 NULL pfam_Di19_Zn_binding,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF114 HGNC ENSG00000124226 tier1 - - 80 0 0.00 31 17 35.42 RNF128 0 genome.wustl.edu 37 X 106031215 106031215 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 106031215 106031215 G T SNP RNF128 ENST00000255499 human ensembl 74_37 +1 known missense c.872 p.R291L 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF128 HGNC ENSG00000133135 tier1 - - 63 0 0.00 40 4 9.09 RNF145 0 genome.wustl.edu 37 5 158630642 158630642 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 158630642 158630642 T - DEL RNF145 ENST00000518802 human ensembl 74_37 -1 known frame_shift_del c.74 p.K25fs 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF145 HGNC ENSG00000145860 tier1 32 0 0.00 26 8 23.53 RNF168 0 genome.wustl.edu 37 3 196214437 196214437 + Nonsense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 196214437 196214437 G A SNP RNF168 ENST00000318037 human ensembl 74_37 -1 known nonsense c.391 p.R131* 0.974 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF168 HGNC ENSG00000163961 tier1 rs201915239 - 61 0 0.00 42 27 39.13 RNF213 0 genome.wustl.edu 37 17 78310294 78310294 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 78310294 78310294 G A SNP RNF213 ENST00000456466 human ensembl 74_37 +1 known missense c.4643 p.R1548H 0.000 NULL NULL - no_errors RNF213 HGNC ENSG00000173821 tier1 - - 64 0 0.00 32 26 44.83 RNF213 0 genome.wustl.edu 37 17 78337441 78337441 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 78337441 78337441 G A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known silent c.11601 p.T3867 0.003 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 tier1 rs145731088 - 37 0 0.00 22 13 37.14 RNF43 0 genome.wustl.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 56435161 56435161 C - DEL RNF43 ENST00000407977 human ensembl 74_37 -1 known frame_shift_del c.1976 p.G659fs 0.900 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 tier1 57 0 0.00 34 17 33.33 RNMT 0 genome.wustl.edu 37 18 13740228 13740228 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 13740228 13740228 G T SNP RNMT ENST00000262173 human ensembl 74_37 +1 known missense c.742 p.D248Y 0.846 pfam_mRNA_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase pfam_mRNA_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase - no_errors RNMT HGNC ENSG00000101654 tier1 - - 34 0 0.00 32 5 13.51 RNPC3 0 genome.wustl.edu 37 1 104076467 104076468 + Frame_Shift_Del DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 104076467 104076468 AA - DEL RNPC3 ENST00000423855 human ensembl 74_37 +1 known frame_shift_del c.347_348 p.K119fs 0.784:0.699 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RNPC3 HGNC ENSG00000185946 tier1 20 0 0.00 15 5 25.00 ROBO2 0 genome.wustl.edu 37 3 77623815 77623815 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 77623815 77623815 C T SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.2137 p.R713W 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 tier1 - - 34 0 0.00 24 15 38.46 ROCK1P1 0 genome.wustl.edu 37 18 121145 121147 + RNA DEL TTG TTG - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTG TTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 121145 121147 TTG - DEL ROCK1P1 ENST00000608049 human ensembl 74_37 +1 known rna NULL NULL 0.605:0.625:0.630 - - - no_errors ROCK1P1 HGNC ENSG00000263006 tier1 17 0 0.00 11 7 38.89 ROCK1P1 0 genome.wustl.edu 37 18 118357 118357 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 118357 118357 A 0 DEL ROCK1P1 ENST00000608049 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ROCK1P1 HGNC ENSG00000263006 47 0 0.00 49 15 23.44 RP1 0 genome.wustl.edu 37 8 55533894 55533894 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 55533894 55533894 G A SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.368 p.R123H 0.998 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 tier1 - - 36 0 0.00 24 7 22.58 RP1L1 0 genome.wustl.edu 37 8 10468813 10468813 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 10468813 10468813 C - DEL RP1L1 ENST00000382483 human ensembl 74_37 -1 known frame_shift_del c.2795 p.G932fs 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 tier1 62 0 0.00 52 17 24.64 RPA1 0 genome.wustl.edu 37 17 1783946 1783946 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 1783946 1783946 C T SNP RPA1 ENST00000254719 human ensembl 74_37 +1 known missense c.1202 p.A401V 0.990 superfamily_NA-bd_OB-fold,tigrfam_Rep_factor_Rpa1 pfam_Rep_factor-A_C,pfam_Rep_factor-A_N,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,tigrfam_Rep_factor_Rpa1 - no_errors RPA1 HGNC ENSG00000132383 tier1 - - 50 0 0.00 53 23 30.26 RPGRIP1 0 genome.wustl.edu 37 14 21788248 21788248 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 21788248 21788248 A - DEL RPGRIP1 ENST00000206660 human ensembl 74_37 +1 known frame_shift_del c.1379 p.N461fs 0.623 NULL pfam_DUF3250,superfamily_C2_dom - no_errors RPGRIP1 HGNC ENSG00000092200 tier1 28 0 0.00 13 12 48.00 RPGRIP1 0 genome.wustl.edu 37 14 21816412 21816412 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 21816412 21816412 G T SNP RPGRIP1 ENST00000206660 human ensembl 74_37 +1 known silent c.3699 p.L1233 0.877 NULL pfam_DUF3250,superfamily_C2_dom - no_errors RPGRIP1 HGNC ENSG00000092200 tier1 - - 48 0 0.00 68 7 9.33 RPH3A 0 genome.wustl.edu 37 12 113319586 113319586 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 113319586 113319586 C T SNP RPH3A ENST00000389385 human ensembl 74_37 +1 known missense c.1261 p.P421S 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom - no_errors RPH3A HGNC ENSG00000089169 tier1 - - 19 0 0.00 10 8 44.44 RPH3A 0 genome.wustl.edu 37 12 113285596 113285596 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 113285596 113285596 G T SNP RPH3A ENST00000389385 human ensembl 74_37 +1 known missense c.179 p.R60M 0.937 pfam_Znf_FYVE-typ,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom - no_errors RPH3A HGNC ENSG00000089169 38 0 0.00 27 3 10.00 RPH3AL 0 genome.wustl.edu 37 17 169327 169327 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 169327 169327 G T SNP RPH3AL ENST00000331302 human ensembl 74_37 -1 known silent c.235 p.R79 1.000 pfam_Znf_FYVE-typ,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ pfam_Znf_FYVE-typ,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RPH3AL HGNC ENSG00000181031 66 0 0.00 44 3 6.38 RPIA 0 genome.wustl.edu 37 2 89034075 89034075 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 89034075 89034075 C A SNP RPIA ENST00000283646 human ensembl 74_37 +1 known missense c.469 p.L157I 1.000 pfam_Ribose5P_isomerase_typA,tigrfam_Ribose5P_isomerase_typA pfam_Ribose5P_isomerase_typA,tigrfam_Ribose5P_isomerase_typA - no_errors RPIA HGNC ENSG00000153574 tier1 - - 99 0 0.00 72 44 37.93 RPL10A 0 genome.wustl.edu 37 6 35438036 35438036 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 35438036 35438036 G A SNP RPL10A ENST00000322203 human ensembl 74_37 +1 known missense c.391 p.A131T 1.000 pfam_Ribosomal_L1/biogenesis,superfamily_Ribosomal_L1-like,pirsf_Ribosomal_L1 pfam_Ribosomal_L1/biogenesis,superfamily_Ribosomal_L1-like,pirsf_Ribosomal_L1 - no_errors RPL10A HGNC ENSG00000198755 tier1 - - 70 0 0.00 47 15 24.19 RPL12 0 genome.wustl.edu 37 9 130213127 130213127 + RNA SNP A A T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 130213127 130213127 A T SNP RPL12 ENST00000497322 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RPL12 HGNC ENSG00000197958 tier1 - - 29 0 0.00 13 13 50.00 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 6257785 6257785 T - DEL RPL22 ENST00000234875 human ensembl 74_37 -1 known frame_shift_del c.44 p.K15fs 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 tier1 35 0 0.00 26 13 33.33 RPL22P19 0 genome.wustl.edu 37 12 125420367 125420367 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 125420367 125420367 T - DEL RPL22P19 ENST00000480427 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RPL22P19 HGNC ENSG00000241129 tier1 18 0 0.00 11 9 45.00 RPL26L1 0 genome.wustl.edu 37 5 172387036 172387036 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 172387036 172387036 G A SNP RPL26L1 ENST00000265100 human ensembl 74_37 +1 known missense c.160 p.E54K 1.000 pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L26/L24P_euk/arc pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L26/L24P_euk/arc - no_errors RPL26L1 HGNC ENSG00000037241 tier1 - - 61 0 0.00 31 24 43.64 RPL28 0 genome.wustl.edu 37 19 55899415 55899415 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 55899415 55899415 T C SNP RPL28 ENST00000458349 human ensembl 74_37 +1 known missense c.323 p.M108T 1.000 NULL NULL - no_errors RPL28 HGNC ENSG00000108107 tier1 - - 48 0 0.00 18 21 53.85 RPL32P3 0 genome.wustl.edu 37 3 129112515 129112515 + RNA SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 129112515 129112515 G T SNP RPL32P3 ENST00000499631 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RPL32P3 HGNC ENSG00000251474 tier1 - - 37 0 0.00 35 5 12.50 RPP40 0 genome.wustl.edu 37 6 4996642 4996642 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 4996642 4996642 G A SNP RPP40 ENST00000380051 human ensembl 74_37 -1 known missense c.572 p.S191L 0.662 pfam_RNase_P_Rpp40 pfam_RNase_P_Rpp40 - no_errors RPP40 HGNC ENSG00000124787 tier1 - - 45 0 0.00 25 10 28.57 RPS24 0 genome.wustl.edu 37 10 79814587 79814587 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 79814587 79814587 C A SNP RPS24 ENST00000440692 human ensembl 74_37 +1 known missense c.689 p.A230D 0.001 NULL pfam_Ribosomal_S24e,superfamily_Ribosomal_L23/L15e_core_dom - no_errors RPS24 HGNC ENSG00000138326 tier1 - - 96 0 0.00 53 20 27.40 RPS27L 0 genome.wustl.edu 37 15 63447758 63447759 + Frame_Shift_Ins INS - - AT TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 63447758 63447759 - AT INS RPS27L ENST00000439025 human ensembl 74_37 -1 putative frame_shift_ins c.288_287 p.H97fs 0.012:0.010 NULL pfam_Ribosomal_S27e,superfamily_Ribosomal_zn-bd - no_errors RPS27L HGNC ENSG00000185088 tier1 73 0 0.00 46 29 38.67 RPS27L 0 genome.wustl.edu 37 15 63447760 63447760 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 63447760 63447760 G T SNP RPS27L ENST00000439025 human ensembl 74_37 -1 putative missense c.286 p.L96I 0.001 NULL pfam_Ribosomal_S27e,superfamily_Ribosomal_zn-bd - no_errors RPS27L HGNC ENSG00000185088 tier1 - - 74 0 0.00 43 32 42.67 RPS6KC1 0 genome.wustl.edu 37 1 213405564 213405564 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 213405564 213405564 G T SNP RPS6KC1 ENST00000366960 human ensembl 74_37 +1 known missense c.1191 p.E397D 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_MIT,pfam_Phox,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Phox,pfscan_Prot_kinase_dom - no_errors RPS6KC1 HGNC ENSG00000136643 tier1 - - 184 0 0.00 173 65 27.31 RPUSD4 0 genome.wustl.edu 37 11 126073407 126073407 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 126073407 126073407 C T SNP RPUSD4 ENST00000298317 human ensembl 74_37 -1 known missense c.1040 p.R347H 0.019 superfamily_PsdUridine_synth_cat_dom pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom - no_errors RPUSD4 HGNC ENSG00000165526 tier1 - - 84 0 0.00 52 39 42.86 RRN3P1 0 genome.wustl.edu 37 16 21817658 21817658 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 21817658 21817658 A - DEL RRN3P1 ENST00000546471 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RRN3P1 HGNC ENSG00000248124 tier1 23 0 0.00 30 7 18.92 RSAD1 0 genome.wustl.edu 37 17 48559705 48559705 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 48559705 48559705 G T SNP RSAD1 ENST00000258955 human ensembl 74_37 +1 known missense c.728 p.G243V 0.998 smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel pfam_HemN_C_dom,pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel - no_errors RSAD1 HGNC ENSG00000136444 tier1 - - 66 0 0.00 50 4 7.27 RSPH4A 0 genome.wustl.edu 37 6 116951691 116951691 + Nonsense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 116951691 116951691 G T SNP RSPH4A ENST00000368581 human ensembl 74_37 +1 known nonsense c.1756 p.E586* 1.000 NULL pfam_Radial_spoke - no_errors RSPH4A HGNC ENSG00000111834 69 0 0.00 59 4 6.35 RSPO4 0 genome.wustl.edu 37 20 941100 941100 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 941100 941100 G T SNP RSPO4 ENST00000217260 human ensembl 74_37 -1 known missense c.605 p.P202H 0.000 NULL superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO4 HGNC ENSG00000101282 tier1 - - 102 0 0.00 49 28 36.36 RTCB 0 genome.wustl.edu 37 22 32793997 32793997 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 32793997 32793997 C T SNP RTCB ENST00000216038 human ensembl 74_37 -1 known missense c.745 p.D249N 1.000 pfam_RtcB,superfamily_RtcB pfam_RtcB,superfamily_RtcB - no_errors RTCB HGNC ENSG00000100220 tier1 - - 98 0 0.00 44 21 32.31 RTDR1 0 genome.wustl.edu 37 22 23404125 23404125 + Splice_Site SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 23404125 23404125 T C SNP RTDR1 ENST00000216036 human ensembl 74_37 -1 known splice_site c.654-2 e5-2 0.998 - - - no_errors RTDR1 HGNC ENSG00000100218 tier1 - - 32 0 0.00 20 16 44.44 RTEL1 0 genome.wustl.edu 37 20 62319098 62319100 + In_Frame_Del DEL TCC TCC - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 62319098 62319100 TCC - DEL RTEL1 ENST00000318100 human ensembl 74_37 +1 known in_frame_del c.1456_1458 p.S487in_frame_del 0.959:0.995:0.980 superfamily_P-loop_NTPase,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC ENSG00000258366 tier1 106 0 0.00 61 20 24.69 RTN3 0 genome.wustl.edu 37 11 63525656 63525656 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 63525656 63525656 A - DEL RTN3 ENST00000377819 human ensembl 74_37 +1 known frame_shift_del c.3082 p.K1030fs 1.000 pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 tier1 24 0 0.00 27 18 40.00 RTN4IP1 0 genome.wustl.edu 37 6 107076703 107076703 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 107076703 107076703 A G SNP RTN4IP1 ENST00000369063 human ensembl 74_37 -1 known missense c.194 p.M65T 0.982 superfamily_GroES-like,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors RTN4IP1 HGNC ENSG00000130347 tier1 - - 47 0 0.00 30 7 18.92 RUFY3 0 genome.wustl.edu 37 4 71672454 71672454 + RNA SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 71672454 71672454 G T SNP RUFY3 ENST00000507333 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RUFY3 HGNC ENSG00000018189 tier1 - - 89 0 0.00 75 4 5.06 RUNX2 0 genome.wustl.edu 37 6 45296446 45296446 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 45296446 45296446 A - DEL RUNX2 ENST00000352853 human ensembl 74_37 +1 known frame_shift_del c.187 p.G66fs 0.983 NULL pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 tier1 41 0 0.00 12 36 75.00 RUSC2 0 genome.wustl.edu 37 9 35555543 35555543 + Missense_Mutation SNP A A C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 35555543 35555543 A C SNP RUSC2 ENST00000361226 human ensembl 74_37 +1 known missense c.2501 p.Q834P 0.129 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 tier1 - - 52 0 0.00 31 18 36.73 RWDD4 0 genome.wustl.edu 37 4 184572382 184572382 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 184572382 184572382 A - DEL RWDD4 ENST00000326397 human ensembl 74_37 -1 known frame_shift_del c.204 p.F68fs 0.995 pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain - no_errors RWDD4 HGNC ENSG00000182552 tier1 132 0 0.00 89 47 34.56 RXFP3 0 genome.wustl.edu 37 5 33938025 33938025 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 33938025 33938025 C T SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known missense c.1180 p.R394C 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 tier1 - - 43 0 0.00 51 9 15.00 RXRA 0 genome.wustl.edu 37 9 137331938 137331939 + RNA DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 137331938 137331939 AA - DEL RXRA ENST00000356384 human ensembl 74_37 +1 known rna NULL NULL 0.998:0.998 - - - no_errors RXRA HGNC ENSG00000186350 tier1 8 0 0.00 3 6 66.67 RXRG 0 genome.wustl.edu 37 1 165414181 165414181 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 165414181 165414181 G A SNP RXRG ENST00000465764 human ensembl 74_37 -1 known rna NULL NULL 0.577 - - - no_errors RXRG HGNC ENSG00000143171 tier1 - - 110 0 0.00 90 37 29.13 RYR1 0 genome.wustl.edu 37 19 38981338 38981338 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 38981338 38981338 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known silent c.6093 p.L2031 0.377 superfamily_MG_RAP_rcpt_1 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 ENSG00000196218 tier1 - - 38 0 0.00 22 16 42.11 RYR2 0 genome.wustl.edu 37 1 237897051 237897051 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 237897051 237897051 G T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.11080 p.A3694S 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 27 0 0.00 37 2 5.13 RYR3 0 genome.wustl.edu 37 15 34112980 34112980 + Missense_Mutation SNP A A T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 34112980 34112980 A T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.10782 p.E3594D 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 73 0 0.00 43 35 44.87 RYR3 0 genome.wustl.edu 37 15 34048506 34048506 + Splice_Site SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 34048506 34048506 G T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known splice_site c.8516-1 e59-1 1.000 - - - no_errors RYR3 HGNC ENSG00000198838 49 0 0.00 43 3 6.52 SACS 0 genome.wustl.edu 37 13 23910851 23910851 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 23910851 23910851 G T SNP SACS ENST00000382292 human ensembl 74_37 -1 known silent c.7164 p.T2388 0.998 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 tier1 - - 32 0 0.00 30 17 36.17 SACS 0 genome.wustl.edu 37 13 23914687 23914687 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 23914687 23914687 T - DEL SACS ENST00000382292 human ensembl 74_37 -1 known frame_shift_del c.3328 p.I1110fs 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 tier1 46 0 0.00 39 9 18.75 SALL3 0 genome.wustl.edu 37 18 76753309 76753309 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 76753309 76753309 C T SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known missense c.1318 p.R440C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 tier1 - - 35 0 0.00 18 16 47.06 SAMD14 0 genome.wustl.edu 37 17 48191580 48191581 + Frame_Shift_Ins INS - - G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 48191580 48191581 - G INS SAMD14 ENST00000503131 human ensembl 74_37 -1 known frame_shift_ins c.997_996 p.Y332fs 1.000:1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD14 HGNC ENSG00000167100 tier1 36 0 0.00 17 9 34.62 SAMD9 0 genome.wustl.edu 37 7 92731997 92731997 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 92731997 92731997 G A SNP SAMD9 ENST00000379958 human ensembl 74_37 -1 known silent c.3414 p.N1138 0.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 tier1 - - 53 0 0.00 30 18 37.50 SAMD9 0 genome.wustl.edu 37 7 92734717 92734717 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 92734717 92734717 T C SNP SAMD9 ENST00000379958 human ensembl 74_37 -1 known missense c.694 p.N232D 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 tier1 - - 90 0 0.00 60 32 34.78 SAMM50 0 genome.wustl.edu 37 22 44351336 44351336 + RNA DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 44351336 44351336 G - DEL SAMM50 ENST00000493161 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SAMM50 HGNC ENSG00000100347 tier1 8 0 0.00 8 2 20.00 SAMM50 0 genome.wustl.edu 37 22 44392209 44392209 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 44392209 44392209 T - DEL SAMM50 ENST00000493621 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SAMM50 HGNC ENSG00000100347 tier1 68 0 0.00 49 16 24.62 SAP30BP 0 genome.wustl.edu 37 17 73698584 73698584 + Nonsense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 73698584 73698584 C T SNP SAP30BP ENST00000584667 human ensembl 74_37 +1 known nonsense c.421 p.R141* 1.000 pfam_SAP30BP pfam_SAP30BP - no_errors SAP30BP HGNC ENSG00000161526 tier1 - - 74 0 0.00 40 23 36.51 SAT1 0 genome.wustl.edu 37 X 23802147 23802147 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 23802147 23802147 A - DEL SAT1 ENST00000379251 human ensembl 74_37 +1 known frame_shift_del c.439 p.N150fs 0.001 NULL superfamily_Acyl_CoA_acyltransferase - no_errors SAT1 HGNC ENSG00000130066 tier1 13 0 0.00 5 9 64.29 SBF1 0 genome.wustl.edu 37 22 50900786 50900788 + In_Frame_Del DEL CTT CTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 50900786 50900788 CTT - DEL SBF1 ENST00000380817 human ensembl 74_37 -1 known in_frame_del c.2244_2242 p.K748in_frame_del 1.000:1.000:1.000 pfam_SBF2 pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 tier1 72 0 0.00 32 16 33.33 SBNO1 0 genome.wustl.edu 37 12 123794283 123794283 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 123794283 123794283 T - DEL SBNO1 ENST00000420886 human ensembl 74_37 -1 known frame_shift_del c.3416 p.N1139fs 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 tier1 53 0 0.00 29 18 38.30 SBSN 0 genome.wustl.edu 37 19 36017923 36017924 + Frame_Shift_Ins INS - - C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 36017923 36017924 - C INS SBSN ENST00000452271 human ensembl 74_37 -1 novel frame_shift_ins c.1261_1260 p.Q420fs 0.000:0.000 NULL NULL - no_errors SBSN HGNC ENSG00000189001 tier1 49 0 0.00 28 25 47.17 SCAF11 0 genome.wustl.edu 37 12 46321475 46321475 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 46321475 46321475 T - DEL SCAF11 ENST00000369367 human ensembl 74_37 -1 known frame_shift_del c.2009 p.N670fs 0.287 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 tier1 18 0 0.00 19 6 24.00 SCAMP1 0 genome.wustl.edu 37 5 77772628 77772629 + RNA DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 77772628 77772629 AA - DEL SCAMP1 ENST00000320280 human ensembl 74_37 +1 known rna NULL NULL 0.109:0.094 - - - no_errors SCAMP1 HGNC ENSG00000085365 tier1 19 0 0.00 11 7 38.89 SCAP 0 genome.wustl.edu 37 3 47462072 47462072 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 47462072 47462072 C T SNP SCAP ENST00000265565 human ensembl 74_37 -1 known missense c.1535 p.R512H 1.000 NULL pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SCAP HGNC ENSG00000114650 tier1 - - 163 0 0.00 73 30 29.13 SCAPER 0 genome.wustl.edu 37 15 77067201 77067201 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 77067201 77067201 T - DEL SCAPER ENST00000324767 human ensembl 74_37 -1 known frame_shift_del c.1030 p.T344fs 1.000 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 tier1 46 0 0.00 25 18 41.86 SCAPER 0 genome.wustl.edu 37 15 76958034 76958034 + Nonsense_Mutation SNP T T A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 76958034 76958034 T A SNP SCAPER ENST00000324767 human ensembl 74_37 -1 known nonsense c.2605 p.K869* 0.865 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 51 0 0.00 37 2 5.13 SCARA3 0 genome.wustl.edu 37 8 27516366 27516366 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 27516366 27516366 G A SNP SCARA3 ENST00000301904 human ensembl 74_37 +1 known missense c.679 p.V227M 0.827 NULL pfam_Collagen - no_errors SCARA3 HGNC ENSG00000168077 tier1 rs200594740 - 36 0 0.00 21 5 19.23 SCARF2 0 genome.wustl.edu 37 22 20780161 20780161 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 20780161 20780161 G T SNP SCARF2 ENST00000405555 human ensembl 74_37 -1 known missense c.2102 p.P701H 1.000 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF2 HGNC ENSG00000244486 tier1 - - 73 0 0.00 35 25 41.67 SCCPDH 0 genome.wustl.edu 37 1 246923522 246923522 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 246923522 246923522 A - DEL SCCPDH ENST00000366510 human ensembl 74_37 +1 known frame_shift_del c.983 p.K329fs 1.000 pfam_Saccharopine_DH/HSpermid_syn pfam_Saccharopine_DH/HSpermid_syn - no_errors SCCPDH HGNC ENSG00000143653 tier1 47 0 0.00 54 18 25.00 SCD 0 genome.wustl.edu 37 10 102107979 102107979 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 102107979 102107979 G T SNP SCD ENST00000370355 human ensembl 74_37 +1 known missense c.186 p.K62N 0.996 NULL pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core - no_errors SCD HGNC ENSG00000099194 tier1 - - 71 0 0.00 56 4 6.67 SCIN 0 genome.wustl.edu 37 7 12668733 12668733 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 12668733 12668733 G A SNP SCIN ENST00000297029 human ensembl 74_37 +1 known missense c.1205 p.R402H 1.000 smart_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors SCIN HGNC ENSG00000006747 tier1 - - 35 0 0.00 33 24 42.11 SCML4 0 genome.wustl.edu 37 6 108066223 108066223 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 108066223 108066223 G T SNP SCML4 ENST00000369021 human ensembl 74_37 -1 known missense c.525 p.H175Q 1.000 pfam_DUF3588 pfam_DUF3588 - no_errors SCML4 HGNC ENSG00000146285 55 0 0.00 26 2 7.14 SCN11A 0 genome.wustl.edu 37 3 38949441 38949441 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 38949441 38949441 T - DEL SCN11A ENST00000302328 human ensembl 74_37 -1 known frame_shift_del c.1472 p.K491fs 0.352 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 tier1 24 0 0.00 21 5 19.23 SCN4A 0 genome.wustl.edu 37 17 62020367 62020367 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 62020367 62020367 G T SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known silent c.4107 p.T1369 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 tier1 - - 79 0 0.00 88 5 5.38 SCN7A 0 genome.wustl.edu 37 2 167313546 167313546 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 167313546 167313546 A G SNP SCN7A ENST00000409855 human ensembl 74_37 -1 known missense c.1124 p.V375A 0.998 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 tier1 - - 36 0 0.00 12 14 53.85 SCN8A 0 genome.wustl.edu 37 12 52156424 52156424 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 52156424 52156424 C T SNP SCN8A ENST00000354534 human ensembl 74_37 +1 known silent c.2508 p.D836 0.931 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 tier1 - - 47 0 0.00 19 18 48.65 SCNM1 0 genome.wustl.edu 37 1 151139074 151139075 + RNA DEL TT TT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 151139074 151139075 TT - DEL SCNM1 ENST00000471039 human ensembl 74_37 +1 putative rna NULL NULL 0.045:0.054 - - - no_errors SCNM1 HGNC ENSG00000163156 tier1 32 0 0.00 33 6 15.38 SCNM1 0 genome.wustl.edu 37 1 151139074 151139076 + RNA DEL TTT TTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 151139074 151139076 TTT - DEL SCNM1 ENST00000471039 human ensembl 74_37 +1 putative rna NULL NULL 0.045:0.054:0.071 - - - no_errors SCNM1 HGNC ENSG00000163156 tier1 32 0 0.00 27 12 30.77 SCRN2 0 genome.wustl.edu 37 17 45915676 45915676 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 45915676 45915676 C T SNP SCRN2 ENST00000290216 human ensembl 74_37 -1 known missense c.1079 p.R360H 0.002 NULL pfam_Peptidase_C69,pfam_Pept_C45_AAT - no_errors SCRN2 HGNC ENSG00000141295 tier1 - - 67 0 0.00 18 21 53.85 SCUBE2 0 genome.wustl.edu 37 11 9069061 9069061 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 9069061 9069061 C T SNP SCUBE2 ENST00000457346 human ensembl 74_37 -1 known missense c.1844 p.R615H 1.000 NULL pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE2 HGNC ENSG00000175356 tier1 rs144080898 - 49 0 0.00 31 20 39.22 SCYL3 0 genome.wustl.edu 37 1 169836093 169836093 + Silent SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 169836093 169836093 C A SNP SCYL3 ENST00000367770 human ensembl 74_37 -1 known silent c.759 p.V253 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom - no_errors SCYL3 HGNC ENSG00000000457 tier1 - - 54 0 0.00 45 9 16.67 SDHD 0 genome.wustl.edu 37 11 111959653 111959653 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 111959653 111959653 G T SNP SDHD ENST00000375549 human ensembl 74_37 +1 known missense c.232 p.G78C 1.000 pfam_CybS pfam_CybS - no_errors SDHD HGNC ENSG00000204370 tier1 - - 103 0 0.00 53 41 43.62 SEC14L2 0 genome.wustl.edu 37 22 30812026 30812026 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 30812026 30812026 C T SNP SEC14L2 ENST00000312932 human ensembl 74_37 +1 known silent c.861 p.G287 1.000 superfamily_GOLD,pfscan_GOLD pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L2 HGNC ENSG00000100003 tier1 - - 44 0 0.00 50 17 25.37 SEC22B 0 genome.wustl.edu 37 1 145116324 145116327 + RNA DEL TTTG TTTG - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTTG TTTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 145116324 145116327 TTTG - DEL SEC22B ENST00000453618 human ensembl 74_37 +1 known rna NULL NULL 0.005:0.004:0.005:0.005 - - - no_errors SEC22B HGNC ENSG00000223380 tier1 62 0 0.00 101 7 6.48 SEC23IP 0 genome.wustl.edu 37 10 121657803 121657804 + RNA INS - - T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 121657803 121657804 - T INS SEC23IP ENST00000470478 human ensembl 74_37 +1 known rna NULL NULL 0.004:0.004 - - - no_errors SEC23IP HGNC ENSG00000107651 tier1 19 0 0.00 3 16 84.21 SEC24B 0 genome.wustl.edu 37 4 110452575 110452575 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 110452575 110452575 A G SNP SEC24B ENST00000265175 human ensembl 74_37 +1 known missense c.3287 p.D1096G 1.000 pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom 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 SEC24B HGNC ENSG00000138802 tier1 - - 60 0 0.00 49 25 33.78 SEC24D 0 genome.wustl.edu 37 4 119736808 119736808 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 119736808 119736808 T C SNP SEC24D ENST00000506622 human ensembl 74_37 -1 known missense c.578 p.D193G 0.000 NULL NULL - no_errors SEC24D HGNC ENSG00000150961 tier1 - - 96 0 0.00 63 33 34.38 SEC63 0 genome.wustl.edu 37 6 108277241 108277242 + Frame_Shift_Ins INS - - G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 108277241 108277242 - G INS SEC63 ENST00000446496 human ensembl 74_37 -1 known frame_shift_ins c.194_193 p.R65fs 0.000:0.000 NULL NULL - no_errors SEC63 HGNC ENSG00000025796 tier1 48 0 0.00 41 18 30.51 SECISBP2 0 genome.wustl.edu 37 9 91972418 91972418 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 91972418 91972418 C T SNP SECISBP2 ENST00000375807 human ensembl 74_37 +1 known missense c.2206 p.R736C 1.000 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2 HGNC ENSG00000187742 29 0 0.00 14 2 12.50 SEL1L 0 genome.wustl.edu 37 14 81945992 81945992 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 81945992 81945992 G A SNP SEL1L ENST00000336735 human ensembl 74_37 -1 known silent c.2139 p.G713 0.000 NULL pfam_Sel1-like,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_Sel1-like,pfscan_FN_type2_col-bd - no_errors SEL1L HGNC ENSG00000071537 tier1 - - 63 0 0.00 30 25 45.45 SEL1L2 0 genome.wustl.edu 37 20 13894524 13894524 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 13894524 13894524 G A SNP SEL1L2 ENST00000284951 human ensembl 74_37 -1 known silent c.453 p.D151 0.999 pfam_Sel1-like,smart_Sel1-like pfam_Sel1-like,smart_Sel1-like - no_errors SEL1L2 HGNC ENSG00000101251 tier1 - - 30 0 0.00 22 11 33.33 SEL1L3 0 genome.wustl.edu 37 4 25780793 25780793 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 25780793 25780793 C T SNP SEL1L3 ENST00000399878 human ensembl 74_37 -1 known silent c.2490 p.A830 0.195 pfam_Sel1-like,smart_Sel1-like pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like - no_errors SEL1L3 HGNC ENSG00000091490 tier1 - - 56 0 0.00 29 24 45.28 SEMA3D 0 genome.wustl.edu 37 7 84628713 84628713 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 84628713 84628713 T - DEL SEMA3D ENST00000484038 human ensembl 74_37 -1 known rna NULL NULL 0.017 - - - no_errors SEMA3D HGNC ENSG00000153993 tier1 32 0 0.00 19 13 40.62 SEMA3G 0 genome.wustl.edu 37 3 52474799 52474799 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 52474799 52474799 G A SNP SEMA3G ENST00000231721 human ensembl 74_37 -1 known silent c.969 p.L323 0.004 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3G HGNC ENSG00000010319 tier1 - - 28 0 0.00 14 13 48.15 SEMG2 0 genome.wustl.edu 37 20 43851942 43851942 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 43851942 43851942 G T SNP SEMG2 ENST00000372769 human ensembl 74_37 +1 known missense c.1669 p.V557L 0.000 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG2 HGNC ENSG00000124157 25 0 0.00 18 2 10.00 SENP1 0 genome.wustl.edu 37 12 48458896 48458897 + Frame_Shift_Del DEL TT TT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 48458896 48458897 TT - DEL SENP1 ENST00000004980 human ensembl 74_37 -1 known frame_shift_del c.1227_1226 p.K409fs 0.206:0.381 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP1 HGNC ENSG00000079387 tier1 52 0 0.00 39 19 32.76 SENP5 0 genome.wustl.edu 37 3 196613470 196613470 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 196613470 196613470 G T SNP SENP5 ENST00000323460 human ensembl 74_37 +1 known missense c.1418 p.C473F 0.637 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP5 HGNC ENSG00000119231 tier1 - - 42 0 0.00 55 4 6.78 SEPHS2 0 genome.wustl.edu 37 16 30455931 30455931 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 30455931 30455931 C T SNP SEPHS2 ENST00000542752 human ensembl 74_37 -1 known missense c.947 p.G316E 1.000 pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,pirsf_SelD,tigrfam_SelD pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD - no_errors SEPHS2 HGNC ENSG00000179918 tier1 - - 44 0 0.00 30 26 46.43 SEPT10 0 genome.wustl.edu 37 2 110301828 110301828 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 110301828 110301828 T - DEL SEPT10 ENST00000356688 human ensembl 74_37 -1 putative frame_shift_del c.1506 p.K502fs 0.004 NULL pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase - no_errors SEPT10 HGNC ENSG00000186522 tier1 49 0 0.00 38 20 34.48 SEPT11 0 genome.wustl.edu 37 4 77936159 77936159 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 77936159 77936159 G A SNP SEPT11 ENST00000541121 human ensembl 74_37 +1 known missense c.706 p.A236T 0.969 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT11 HGNC ENSG00000138758 tier1 - - 61 0 0.00 49 22 30.99 SEPT5 0 genome.wustl.edu 37 22 19707861 19707861 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 19707861 19707861 C T SNP SEPT5 ENST00000383045 human ensembl 74_37 +1 known silent c.408 p.D136 1.000 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT5 HGNC ENSG00000184702 tier1 - - 96 0 0.00 46 20 30.30 SERPINB2 0 genome.wustl.edu 37 18 61565041 61565041 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 61565041 61565041 A - DEL SERPINB2 ENST00000299502 human ensembl 74_37 +1 known frame_shift_del c.498 p.K168fs 0.999 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB2 HGNC ENSG00000197632 tier1 54 0 0.00 40 17 29.82 SESTD1 0 genome.wustl.edu 37 2 180016104 180016104 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 180016104 180016104 G A SNP SESTD1 ENST00000428443 human ensembl 74_37 -1 known silent c.384 p.S128 0.974 superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors SESTD1 HGNC ENSG00000187231 tier1 - - 81 0 0.00 44 37 45.68 SETD1B 0 genome.wustl.edu 37 12 122242658 122242658 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 122242658 122242658 C - DEL SETD1B ENST00000267197 human ensembl 74_37 +1 known frame_shift_del c.15 p.H8fs 1.000 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1B HGNC ENSG00000139718 tier1 13 0 0.00 17 12 41.38 SETD3 0 genome.wustl.edu 37 14 99871696 99871696 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 99871696 99871696 A - DEL SETD3 ENST00000331768 human ensembl 74_37 -1 known frame_shift_del c.937 p.Y313fs 1.000 pfam_SET_dom pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,superfamily_Rubisco_LSMT_subst-bd - no_errors SETD3 HGNC ENSG00000183576 tier1 42 0 0.00 26 20 43.48 SETD8 0 genome.wustl.edu 37 12 123892040 123892040 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 123892040 123892040 C T SNP SETD8 ENST00000330479 human ensembl 74_37 +1 known silent c.849 p.C283 0.988 pfam_SET_dom,smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom pfam_SET_dom,smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom - no_errors SETD8 HGNC ENSG00000183955 tier1 - - 141 0 0.00 86 79 47.88 SETX 0 genome.wustl.edu 37 9 135158548 135158550 + RNA DEL AAA AAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 135158548 135158550 AAA - DEL SETX ENST00000474172 human ensembl 74_37 -1 known rna NULL NULL 0.010:0.003:0.000 - - - no_errors SETX HGNC ENSG00000107290 tier1 41 0 0.00 16 14 46.67 SEZ6L 0 genome.wustl.edu 37 22 26692908 26692908 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 26692908 26692908 G T SNP SEZ6L ENST00000248933 human ensembl 74_37 +1 known missense c.1024 p.G342C 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC ENSG00000100095 48 0 0.00 38 4 9.52 SF3B2 0 genome.wustl.edu 37 11 65836146 65836146 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 65836146 65836146 A - DEL SF3B2 ENST00000322535 human ensembl 74_37 +1 known frame_shift_del c.2618 p.K875fs 1.000 NULL pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom - no_errors SF3B2 HGNC ENSG00000087365 tier1 44 0 0.00 31 15 32.61 SF3B4 0 genome.wustl.edu 37 1 149895759 149895760 + Frame_Shift_Ins INS - - G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 149895759 149895760 - G INS SF3B4 ENST00000271628 human ensembl 74_37 -1 known frame_shift_ins c.1061_1060 p.R354fs 1.000:0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SF3B4 HGNC ENSG00000143368 tier1 66 0 0.00 74 22 22.92 SFI1 0 genome.wustl.edu 37 22 31981087 31981087 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 31981087 31981087 G T SNP SFI1 ENST00000400288 human ensembl 74_37 +1 known missense c.1380 p.W460C 0.979 NULL superfamily_Cyclin-like - no_errors SFI1 HGNC ENSG00000198089 tier1 - - 100 0 0.00 99 6 5.71 SGIP1 0 genome.wustl.edu 37 1 67099769 67099769 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 67099769 67099769 A - DEL SGIP1 ENST00000237247 human ensembl 74_37 +1 known frame_shift_del c.106 p.K38fs 0.997 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 tier1 37 0 0.00 28 13 31.71 SGOL1 0 genome.wustl.edu 37 3 20212755 20212756 + RNA DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 20212755 20212756 AA - DEL SGOL1 ENST00000460637 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.000 - - - no_errors SGOL1 HGNC ENSG00000129810 tier1 18 0 0.00 9 6 40.00 SH2D4B 0 genome.wustl.edu 37 10 82331259 82331259 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 82331259 82331259 G A SNP SH2D4B ENST00000470604 human ensembl 74_37 +1 known silent c.417 p.A139 0.035 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2D4B HGNC ENSG00000178217 tier1 rs151180626 - 33 0 0.00 14 5 26.32 SH3BP1 0 genome.wustl.edu 37 22 38046679 38046679 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 38046679 38046679 G A SNP SH3BP1 ENST00000357436 human ensembl 74_37 +1 known silent c.1545 p.P515 0.000 NULL pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors SH3BP1 HGNC ENSG00000100092 tier1 rs139958398 - 93 0 0.00 52 25 32.47 SH3BP1 0 genome.wustl.edu 37 22 38051313 38051314 + Frame_Shift_Ins INS - - C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 38051313 38051314 0 C INS SH3BP1 ENST00000357436 human ensembl 74_37 +1 known frame_shift_ins c.1728_1729 p.Q578fs 0.733:0.981 NULL pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors SH3BP1 HGNC ENSG00000100092 18 0 0.00 10 4 28.57 SH3D19 0 genome.wustl.edu 37 4 152041916 152041916 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 152041916 152041916 A - DEL SH3D19 ENST00000604922 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors SH3D19 HGNC ENSG00000109686 tier1 27 0 0.00 10 7 41.18 SH3D19 0 genome.wustl.edu 37 4 152043270 152043270 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 152043270 152043270 G T SNP SH3D19 ENST00000304527 human ensembl 74_37 -1 known missense c.2346 p.N782K 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SH3D19 HGNC ENSG00000109686 tier1 - - 65 0 0.00 62 4 5.97 SH3GL3 0 genome.wustl.edu 37 15 84237360 84237360 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 84237360 84237360 G A SNP SH3GL3 ENST00000324537 human ensembl 74_37 +1 known silent c.291 p.T97 0.006 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors SH3GL3 HGNC ENSG00000140600 tier1 - - 32 0 0.00 20 15 42.86 SH3GL3 0 genome.wustl.edu 37 15 84287070 84287070 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 84287070 84287070 G A SNP SH3GL3 ENST00000564054 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SH3GL3 HGNC ENSG00000140600 tier1 rs113558690 - 36 0 0.00 30 19 38.78 SHANK1 0 genome.wustl.edu 37 19 51192559 51192559 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 51192559 51192559 G - DEL SHANK1 ENST00000391813 human ensembl 74_37 -1 known frame_shift_del c.103 p.H35fs 0.020 NULL pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors SHANK1 HGNC ENSG00000161681 tier1 52 0 0.00 25 15 37.50 SHANK3 0 genome.wustl.edu 37 22 51160845 51160845 + Missense_Mutation SNP G G C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 51160845 51160845 G C SNP SHANK3 ENST00000262795 human ensembl 74_37 +1 known missense c.4632 p.K1544N 1.000 NULL pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK3 HGNC ENSG00000251322 tier1 - - 10 0 0.00 5 6 54.55 SHC1 0 genome.wustl.edu 37 1 154935863 154935863 + RNA DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 154935863 154935863 G - DEL SHC1 ENST00000490667 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SHC1 HGNC ENSG00000160691 tier1 41 0 0.00 31 9 22.50 SHC4 0 genome.wustl.edu 37 15 49254776 49254776 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 49254776 49254776 G A SNP SHC4 ENST00000332408 human ensembl 74_37 -1 known missense c.437 p.P146L 0.002 NULL pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC4 HGNC ENSG00000185634 tier1 - - 55 0 0.00 37 28 43.08 SHE 0 genome.wustl.edu 37 1 154474190 154474190 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 154474190 154474190 G A SNP SHE ENST00000304760 human ensembl 74_37 -1 known missense c.313 p.R105C 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHE HGNC ENSG00000169291 13 0 0.00 11 3 21.43 SHROOM2 0 genome.wustl.edu 37 X 9863381 9863381 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 9863381 9863381 G A SNP SHROOM2 ENST00000380913 human ensembl 74_37 +1 known missense c.1433 p.R478Q 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 tier1 - - 13 0 0.00 3 12 80.00 SHROOM2 0 genome.wustl.edu 37 X 9900355 9900355 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 9900355 9900355 G A SNP SHROOM2 ENST00000380913 human ensembl 74_37 +1 known missense c.3032 p.R1011Q 0.007 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 tier1 - - 18 0 0.00 0 10 100.00 SIAH3 0 genome.wustl.edu 37 13 46425732 46425732 + Silent SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 46425732 46425732 T C SNP SIAH3 ENST00000400405 human ensembl 74_37 -1 known silent c.33 p.V11 1.000 NULL pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like - no_errors SIAH3 HGNC ENSG00000215475 tier1 - - 60 0 0.00 46 18 28.12 SIGLEC1 0 genome.wustl.edu 37 20 3674126 3674126 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 3674126 3674126 C T SNP SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known missense c.3476 p.R1159H 0.001 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC1 HGNC ENSG00000088827 tier1 - - 70 0 0.00 46 21 31.34 SIM2 0 genome.wustl.edu 37 21 38117396 38117396 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 38117396 38117396 C A SNP SIM2 ENST00000290399 human ensembl 74_37 +1 known missense c.1535 p.P512Q 0.636 pfam_SIM_C pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors SIM2 HGNC ENSG00000159263 tier1 - - 42 0 0.00 23 19 45.24 SIPA1L1 0 genome.wustl.edu 37 14 72055970 72055970 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 72055970 72055970 G A SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.1381 p.A461T 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 35 0 0.00 37 4 9.76 SIRT6 0 genome.wustl.edu 37 19 4175882 4175882 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 4175882 4175882 G A SNP SIRT6 ENST00000337491 human ensembl 74_37 -1 known missense c.490 p.R164W 0.971 pfam_Sirtuin,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT6 HGNC ENSG00000077463 12 0 0.00 6 3 33.33 SIX3 0 genome.wustl.edu 37 2 45169257 45169257 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 45169257 45169257 C - DEL SIX3 ENST00000260653 human ensembl 74_37 +1 known frame_shift_del c.14 p.L7fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX3 HGNC ENSG00000138083 tier1 65 0 0.00 26 20 43.48 SLC11A2 0 genome.wustl.edu 37 12 51390736 51390736 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 51390736 51390736 C T SNP SLC11A2 ENST00000394904 human ensembl 74_37 -1 known missense c.782 p.S261N 0.973 pfam_NRAMP-like,tigrfam_NRAMP-like pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like - no_errors SLC11A2 HGNC ENSG00000110911 tier1 - - 56 0 0.00 56 34 37.78 SLC12A3 0 genome.wustl.edu 37 16 56926017 56926017 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 56926017 56926017 G A SNP SLC12A3 ENST00000438926 human ensembl 74_37 +1 known silent c.2391 p.A797 0.089 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A3 HGNC ENSG00000070915 tier1 - - 68 0 0.00 36 15 29.41 SLC12A5 0 genome.wustl.edu 37 20 44669992 44669992 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 44669992 44669992 G A SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known silent c.948 p.T316 0.982 prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 tier1 - - 54 0 0.00 39 13 25.00 SLC16A12 0 genome.wustl.edu 37 10 91196023 91196023 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 91196023 91196023 C A SNP SLC16A12 ENST00000371790 human ensembl 74_37 -1 known missense c.1082 p.G361V 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A12 HGNC ENSG00000152779 tier1 - - 34 0 0.00 21 9 30.00 SLC16A12 0 genome.wustl.edu 37 10 91203598 91203598 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 91203598 91203598 A - DEL SLC16A12 ENST00000371790 human ensembl 74_37 -1 known frame_shift_del c.219 p.F73fs 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A12 HGNC ENSG00000152779 tier1 48 0 0.00 30 6 16.67 SLC16A14 0 genome.wustl.edu 37 2 230910833 230910833 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 230910833 230910833 G T SNP SLC16A14 ENST00000295190 human ensembl 74_37 -1 known missense c.1009 p.L337I 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A14 HGNC ENSG00000163053 tier1 - - 34 0 0.00 31 4 11.43 SLC16A4 0 genome.wustl.edu 37 1 110906427 110906427 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 110906427 110906427 A - DEL SLC16A4 ENST00000369779 human ensembl 74_37 -1 known frame_shift_del c.1425 p.F475fs 0.998 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A4 HGNC ENSG00000168679 tier1 30 0 0.00 32 14 30.43 SLC17A2 0 genome.wustl.edu 37 6 25916975 25916975 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 25916975 25916975 T C SNP SLC17A2 ENST00000377850 human ensembl 74_37 -1 known missense c.868 p.T290A 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A2 HGNC ENSG00000112337 tier1 - - 83 0 0.00 42 23 35.38 SLC17A5 0 genome.wustl.edu 37 6 74351590 74351590 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 74351590 74351590 A - DEL SLC17A5 ENST00000355773 human ensembl 74_37 -1 known frame_shift_del c.349 p.Y117fs 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A5 HGNC ENSG00000119899 tier1 86 0 0.00 50 12 19.35 SLC17A7 0 genome.wustl.edu 37 19 49934034 49934034 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 49934034 49934034 G T SNP SLC17A7 ENST00000221485 human ensembl 74_37 -1 known silent c.1425 p.A475 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A7 HGNC ENSG00000104888 tier1 - - 50 0 0.00 57 4 6.56 SLC18A3 0 genome.wustl.edu 37 10 50819809 50819809 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 50819809 50819809 C T SNP SLC18A3 ENST00000374115 human ensembl 74_37 +1 known silent c.1023 p.G341 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A3 HGNC ENSG00000187714 tier1 - - 31 0 0.00 16 13 44.83 SLC19A1 0 genome.wustl.edu 37 21 46951462 46951462 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 46951462 46951462 G A SNP SLC19A1 ENST00000311124 human ensembl 74_37 -1 known missense c.790 p.R264W 0.002 pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A1 HGNC ENSG00000173638 tier1 - - 102 0 0.00 45 32 41.03 SLC1A4 0 genome.wustl.edu 37 2 65248232 65248232 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 65248232 65248232 C - DEL SLC1A4 ENST00000234256 human ensembl 74_37 +1 known frame_shift_del c.1551 p.V519fs 0.025 NULL pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A4 HGNC ENSG00000115902 tier1 31 0 0.00 22 12 35.29 SLC20A2 0 genome.wustl.edu 37 8 42302215 42302215 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 42302215 42302215 C T SNP SLC20A2 ENST00000342228 human ensembl 74_37 -1 known missense c.679 p.A227T 1.000 pfam_Phos_transporter pfam_Phos_transporter - no_errors SLC20A2 HGNC ENSG00000168575 tier1 rs140978915 - 36 0 0.00 48 15 23.81 SLC23A2 0 genome.wustl.edu 37 20 4850601 4850601 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 4850601 4850601 A G SNP SLC23A2 ENST00000338244 human ensembl 74_37 -1 known missense c.1201 p.C401R 1.000 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A2 HGNC ENSG00000089057 tier1 - - 35 0 0.00 15 9 37.50 SLC23A2 0 genome.wustl.edu 37 20 4864391 4864391 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 4864391 4864391 A G SNP SLC23A2 ENST00000338244 human ensembl 74_37 -1 known missense c.721 p.Y241H 1.000 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A2 HGNC ENSG00000089057 tier1 - - 30 0 0.00 14 15 51.72 SLC23A2 0 genome.wustl.edu 37 20 4893541 4893541 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 4893541 4893541 G A SNP SLC23A2 ENST00000338244 human ensembl 74_37 -1 known silent c.192 p.N64 0.610 NULL pfam_Xant/urac/vitC - no_errors SLC23A2 HGNC ENSG00000089057 tier1 rs201503850 - 25 0 0.00 23 11 32.35 SLC25A16 0 genome.wustl.edu 37 10 70243182 70243182 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 70243182 70243182 T - DEL SLC25A16 ENST00000265870 human ensembl 74_37 -1 known rna NULL NULL 0.272 - - - no_errors SLC25A16 HGNC ENSG00000122912 tier1 36 0 0.00 56 18 24.32 SLC25A23 0 genome.wustl.edu 37 19 6458220 6458220 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 6458220 6458220 C T SNP SLC25A23 ENST00000264088 human ensembl 74_37 -1 known missense c.272 p.R91Q 0.999 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A23 HGNC ENSG00000125648 tier1 - - 35 0 0.00 16 7 30.43 SLC26A1 0 genome.wustl.edu 37 4 985254 985254 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 985254 985254 C T SNP SLC26A1 ENST00000361661 human ensembl 74_37 -1 known missense c.238 p.G80S 1.000 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A1 HGNC ENSG00000145217 tier1 - - 59 0 0.00 23 8 25.81 SLC26A2 0 genome.wustl.edu 37 5 149360003 149360003 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 149360003 149360003 G A SNP SLC26A2 ENST00000286298 human ensembl 74_37 +1 known missense c.847 p.V283M 1.000 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A2 HGNC ENSG00000155850 tier1 - - 90 0 0.00 47 29 38.16 SLC27A3 0 genome.wustl.edu 37 1 153751860 153751860 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 153751860 153751860 C - DEL SLC27A3 ENST00000368661 human ensembl 74_37 +1 known frame_shift_del c.1927 p.H645fs 0.247 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A3 HGNC ENSG00000143554 tier1 68 0 0.00 41 27 39.71 SLC29A1 0 genome.wustl.edu 37 6 44195073 44195073 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 44195073 44195073 A G SNP SLC29A1 ENST00000313248 human ensembl 74_37 +1 known missense c.260 p.Q87R 1.000 superfamily_MFS_dom_general_subst_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt - no_errors SLC29A1 HGNC ENSG00000112759 tier1 - - 86 0 0.00 44 21 32.31 SLC29A3 0 genome.wustl.edu 37 10 73111425 73111425 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 73111425 73111425 T - DEL SLC29A3 ENST00000373189 human ensembl 74_37 +1 known frame_shift_del c.490 p.F165fs 1.000 NULL pfam_Eqnu_transpt,prints_Eqnu_transpt - no_errors SLC29A3 HGNC ENSG00000198246 tier1 105 0 0.00 64 41 39.05 SLC2A4RG 0 genome.wustl.edu 37 20 62374476 62374476 + RNA DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 62374476 62374476 G - DEL SLC2A4RG ENST00000473157 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC2A4RG HGNC ENSG00000125520 tier1 8 0 0.00 2 3 60.00 SLC32A1 0 genome.wustl.edu 37 20 37356883 37356883 + Silent SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 37356883 37356883 C A SNP SLC32A1 ENST00000217420 human ensembl 74_37 +1 known silent c.1179 p.S393 0.996 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 tier1 - - 52 0 0.00 18 12 40.00 SLC35E1 0 genome.wustl.edu 37 19 16666161 16666161 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 16666161 16666161 G A SNP SLC35E1 ENST00000595753 human ensembl 74_37 -1 known silent c.804 p.S268 0.328 pfam_Tpt_PEP_trans_dom,pfam_UAA pfam_Tpt_PEP_trans_dom,pfam_DMT,pfam_UAA - no_errors SLC35E1 HGNC ENSG00000127526 tier1 - - 81 0 0.00 36 13 26.53 SLC35E3 0 genome.wustl.edu 37 12 69145920 69145920 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 69145920 69145920 C T SNP SLC35E3 ENST00000398004 human ensembl 74_37 +1 known missense c.622 p.P208S 1.000 pfam_Tpt_PEP_trans_dom,pfam_DMT pfam_Tpt_PEP_trans_dom,pfam_DMT - no_errors SLC35E3 HGNC ENSG00000175782 tier1 - - 168 0 0.00 112 53 31.93 SLC35F1 0 genome.wustl.edu 37 6 118596719 118596719 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 118596719 118596719 C T SNP SLC35F1 ENST00000360388 human ensembl 74_37 +1 known silent c.735 p.S245 1.000 pfam_SLC35_F1/F2/F6,pfam_DMT pfam_SLC35_F1/F2/F6,pfam_DMT - no_errors SLC35F1 HGNC ENSG00000196376 tier1 - - 108 0 0.00 71 26 26.80 SLC35F5 0 genome.wustl.edu 37 2 114500277 114500278 + Frame_Shift_Del DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 114500277 114500278 AA 0 DEL SLC35F5 ENST00000245680 human ensembl 74_37 -1 known frame_shift_del c.742_741 p.F247fs 1.000:1.000 pfam_DMT pfam_DMT - no_errors SLC35F5 HGNC ENSG00000115084 30 0 0.00 20 13 39.39 SLC35G2 0 genome.wustl.edu 37 3 136573486 136573486 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 136573486 136573486 A - DEL SLC35G2 ENST00000393079 human ensembl 74_37 +1 known frame_shift_del c.184 p.66fs 1.000 NULL pfam_DMT - no_errors SLC35G2 HGNC ENSG00000168917 tier1 24 0 0.00 11 19 63.33 SLC38A8 0 genome.wustl.edu 37 16 84050327 84050327 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 84050327 84050327 A G SNP SLC38A8 ENST00000299709 human ensembl 74_37 -1 known missense c.959 p.V320A 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease - no_errors SLC38A8 HGNC ENSG00000166558 tier1 - - 23 0 0.00 10 9 47.37 SLC39A4 0 genome.wustl.edu 37 8 145639157 145639157 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 145639157 145639157 G - DEL SLC39A4 ENST00000301305 human ensembl 74_37 -1 known frame_shift_del c.1396 p.H466fs 0.122 pfam_ZIP pfam_ZIP - no_errors SLC39A4 HGNC ENSG00000147804 tier1 16 0 0.00 17 11 39.29 SLC39A6 0 genome.wustl.edu 37 18 33706271 33706271 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 33706271 33706271 G T SNP SLC39A6 ENST00000269187 human ensembl 74_37 -1 known silent c.700 p.R234 0.000 NULL pfam_ZIP - no_errors SLC39A6 HGNC ENSG00000141424 tier1 - - 71 0 0.00 83 5 5.68 SLC41A2 0 genome.wustl.edu 37 12 105198777 105198777 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 105198777 105198777 A - DEL SLC41A2 ENST00000549713 human ensembl 74_37 -1 known rna NULL NULL 0.849 - - - no_errors SLC41A2 HGNC ENSG00000136052 tier1 33 0 0.00 21 11 34.38 SLC44A2 0 genome.wustl.edu 37 19 10745884 10745886 + In_Frame_Del DEL CTT CTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 10745884 10745886 CTT - DEL SLC44A2 ENST00000335757 human ensembl 74_37 +1 known in_frame_del c.1101_1103 p.F369in_frame_del 1.000:1.000:1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A2 HGNC ENSG00000129353 tier1 162 0 0.00 75 67 47.18 SLC44A4 0 genome.wustl.edu 37 6 31838592 31838592 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 31838592 31838592 C A SNP SLC44A4 ENST00000229729 human ensembl 74_37 -1 known missense c.934 p.A312S 0.470 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A4 HGNC ENSG00000204385 tier1 - - 27 0 0.00 6 20 76.92 SLC45A4 0 genome.wustl.edu 37 8 142222358 142222358 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 142222358 142222358 G A SNP SLC45A4 ENST00000517878 human ensembl 74_37 -1 known missense c.2239 p.P747S 1.000 NULL superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 tier1 - - 36 0 0.00 19 7 26.92 SLC45A4 0 genome.wustl.edu 37 8 142264119 142264119 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 142264119 142264119 G T SNP SLC45A4 ENST00000517878 human ensembl 74_37 -1 known silent c.210 p.T70 0.387 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 tier1 - - 44 0 0.00 65 4 5.80 SLC45A4 0 genome.wustl.edu 37 8 142221559 142221559 + Silent SNP G G C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 142221559 142221559 G C SNP SLC45A4 ENST00000024061 human ensembl 74_37 -1 known silent c.2379 p.G793 0.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 25 0 0.00 14 5 26.32 SLC46A2 0 genome.wustl.edu 37 9 115652623 115652623 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 115652623 115652623 C T SNP SLC46A2 ENST00000374228 human ensembl 74_37 -1 known silent c.339 p.L113 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG - no_errors SLC46A2 HGNC ENSG00000119457 tier1 - - 25 0 0.00 10 3 23.08 SLC46A3 0 genome.wustl.edu 37 13 29275067 29275067 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 29275067 29275067 C T SNP SLC46A3 ENST00000475385 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC46A3 HGNC ENSG00000139508 tier1 - - 70 0 0.00 44 72 62.07 SLC47A2 0 genome.wustl.edu 37 17 19618055 19618055 + Silent SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 19618055 19618055 T C SNP SLC47A2 ENST00000325411 human ensembl 74_37 -1 known silent c.273 p.A91 0.001 pfam_MATE pfam_MATE,tigrfam_MATE - no_errors SLC47A2 HGNC ENSG00000180638 tier1 - - 37 0 0.00 10 7 41.18 SLC5A4 0 genome.wustl.edu 37 22 32625212 32625212 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 32625212 32625212 C A SNP SLC5A4 ENST00000266086 human ensembl 74_37 -1 known missense c.1249 p.A417S 0.999 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A4 HGNC ENSG00000100191 tier1 - - 108 0 0.00 68 38 35.85 SLC5A8 0 genome.wustl.edu 37 12 101603614 101603614 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 101603614 101603614 G A SNP SLC5A8 ENST00000536262 human ensembl 74_37 -1 known missense c.13 p.R5W 0.012 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A8 HGNC ENSG00000256870 tier1 - - 41 0 0.00 8 9 52.94 SLC6A13 0 genome.wustl.edu 37 12 333174 333174 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 333174 333174 A G SNP SLC6A13 ENST00000343164 human ensembl 74_37 -1 known missense c.1295 p.L432P 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2 - no_errors SLC6A13 HGNC ENSG00000010379 tier1 - - 39 0 0.00 53 18 25.35 SLC6A6 0 genome.wustl.edu 37 3 14489314 14489314 + Nonsense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 14489314 14489314 G T SNP SLC6A6 ENST00000360861 human ensembl 74_37 +1 known nonsense c.589 p.E197* 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_taurine - no_errors SLC6A6 HGNC ENSG00000131389 33 0 0.00 24 2 7.69 SLC7A6OS 0 genome.wustl.edu 37 16 68337955 68337955 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 68337955 68337955 G T SNP SLC7A6OS ENST00000263997 human ensembl 74_37 -1 known missense c.652 p.Q218K 1.000 NULL NULL - no_errors SLC7A6OS HGNC ENSG00000103061 tier1 - - 107 0 0.00 52 4 7.14 SLC7A7 0 genome.wustl.edu 37 14 23243319 23243319 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 23243319 23243319 C T SNP SLC7A7 ENST00000285850 human ensembl 74_37 -1 known missense c.1252 p.V418I 0.923 pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A7 HGNC ENSG00000155465 tier1 - - 23 0 0.00 27 7 20.59 SLC9A2 0 genome.wustl.edu 37 2 103324746 103324746 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 103324746 103324746 C - DEL SLC9A2 ENST00000233969 human ensembl 74_37 +1 known frame_shift_del c.2237 p.P748fs 0.000 prints_Na/H_exchanger_2 pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A2 HGNC ENSG00000115616 tier1 42 0 0.00 35 12 25.53 SLC9A8 0 genome.wustl.edu 37 20 48467300 48467301 + Frame_Shift_Ins INS - - T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 48467300 48467301 - T INS SLC9A8 ENST00000417961 human ensembl 74_37 +1 known frame_shift_ins c.536_537 p.F183fs 0.284:0.189 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A8 HGNC ENSG00000197818 tier1 18 0 0.00 13 3 18.75 SLC9A8 0 genome.wustl.edu 37 20 48467301 48467301 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 48467301 48467301 T - DEL SLC9A8 ENST00000417961 human ensembl 74_37 +1 known frame_shift_del c.537 p.F182fs 0.189 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A8 HGNC ENSG00000197818 tier1 18 0 0.00 11 5 31.25 SLC9C1 0 genome.wustl.edu 37 3 112005610 112005610 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 112005610 112005610 A - DEL SLC9C1 ENST00000305815 human ensembl 74_37 -1 known frame_shift_del c.29 p.F10fs 0.000 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 tier1 40 0 0.00 28 9 24.32 SLCO2A1 0 genome.wustl.edu 37 3 133670083 133670083 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 133670083 133670083 A - DEL SLCO2A1 ENST00000310926 human ensembl 74_37 -1 known frame_shift_del c.830 p.F277fs 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO2A1 HGNC ENSG00000174640 tier1 34 0 0.00 13 8 38.10 SLCO3A1 0 genome.wustl.edu 37 15 92690355 92690355 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 92690355 92690355 A G SNP SLCO3A1 ENST00000318445 human ensembl 74_37 +1 known missense c.1654 p.M552V 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO3A1 HGNC ENSG00000176463 tier1 - - 51 0 0.00 39 26 40.00 SLCO5A1 0 genome.wustl.edu 37 8 70617403 70617403 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 70617403 70617403 T - DEL SLCO5A1 ENST00000260126 human ensembl 74_37 -1 known frame_shift_del c.1485 p.K495fs 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 tier1 59 0 0.00 62 12 16.22 SLFN13 0 genome.wustl.edu 37 17 33767862 33767862 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 33767862 33767862 C T SNP SLFN13 ENST00000285013 human ensembl 74_37 -1 known missense c.2446 p.V816M 0.000 superfamily_P-loop_NTPase pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN13 HGNC ENSG00000154760 tier1 - - 40 0 0.00 18 19 51.35 SLIT2 0 genome.wustl.edu 37 4 20530701 20530701 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 20530701 20530701 T C SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.1592 p.I531T 1.000 pfam_LRR-contain_N,smart_LRR-contain_N pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 tier1 - - 42 0 0.00 15 27 64.29 SLIT2 0 genome.wustl.edu 37 4 20618777 20618778 + Frame_Shift_Ins INS - - C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 20618777 20618778 - C INS SLIT2 ENST00000504154 human ensembl 74_37 +1 known frame_shift_ins c.4092_4093 p.L1365fs 0.303:0.926 smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 tier1 77 0 0.00 38 22 36.67 SLITRK3 0 genome.wustl.edu 37 3 164906498 164906498 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 164906498 164906498 C T SNP SLITRK3 ENST00000241274 human ensembl 74_37 -1 known silent c.2121 p.R707 0.998 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 tier1 - - 28 0 0.00 10 7 41.18 SLITRK3 0 genome.wustl.edu 37 3 164907944 164907944 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 164907944 164907944 C A SNP SLITRK3 ENST00000241274 human ensembl 74_37 -1 known missense c.675 p.M225I 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 tier1 - - 27 0 0.00 28 15 34.88 SLITRK5 0 genome.wustl.edu 37 13 88328551 88328551 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 88328551 88328551 C T SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.908 p.T303M 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 tier1 rs113077003 - 52 0 0.00 30 30 50.00 SLTM 0 genome.wustl.edu 37 15 59182564 59182565 + Frame_Shift_Del DEL CT CT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 59182564 59182565 CT - DEL SLTM ENST00000380516 human ensembl 74_37 -1 known frame_shift_del c.1995_1994 p.E665fs 1.000:1.000 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SLTM HGNC ENSG00000137776 tier1 17 0 0.00 16 5 23.81 SMAD4 0 genome.wustl.edu 37 18 48605008 48605009 + RNA DEL TT TT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 48605008 48605009 TT - DEL SMAD4 ENST00000586253 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.003 - - - no_errors SMAD4 HGNC ENSG00000141646 tier1 22 0 0.00 10 4 28.57 SMAD5 0 genome.wustl.edu 37 5 135513613 135513614 + RNA DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 135513613 135513614 AA - DEL SMAD5 ENST00000514641 human ensembl 74_37 +1 known rna NULL NULL 0.549:0.499 - - - no_errors SMAD5 HGNC ENSG00000113658 tier1 8 0 0.00 3 2 40.00 SMARCA4 0 genome.wustl.edu 37 19 11141498 11141498 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 11141498 11141498 G - DEL SMARCA4 ENST00000358026 human ensembl 74_37 +1 known frame_shift_del c.3475 p.L1161fs 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 tier1 70 0 0.00 46 19 29.23 SMARCAD1 0 genome.wustl.edu 37 4 95173910 95173910 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 95173910 95173910 A - DEL SMARCAD1 ENST00000359052 human ensembl 74_37 +1 known frame_shift_del c.1033 p.N347fs 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAD1 HGNC ENSG00000163104 tier1 32 0 0.00 37 21 36.21 SMARCD3 0 genome.wustl.edu 37 7 150938620 150938620 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 150938620 150938620 G T SNP SMARCD3 ENST00000262188 human ensembl 74_37 -1 known silent c.897 p.S299 0.831 pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD3 HGNC ENSG00000082014 tier1 - - 69 0 0.00 62 4 5.97 SMC5 0 genome.wustl.edu 37 9 72961329 72961329 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 72961329 72961329 A - DEL SMC5 ENST00000471372 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SMC5 HGNC ENSG00000198887 tier1 13 0 0.00 1 6 85.71 SMG6 0 genome.wustl.edu 37 17 1964770 1964770 + RNA DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 1964770 1964770 C - DEL SMG6 ENST00000570756 human ensembl 74_37 -1 known rna NULL NULL 0.088 - - - no_errors SMG6 HGNC ENSG00000070366 tier1 67 0 0.00 47 18 27.69 SMG7 0 genome.wustl.edu 37 1 183515417 183515417 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 183515417 183515417 G A SNP SMG7 ENST00000507469 human ensembl 74_37 +1 known missense c.2549 p.R850Q 1.000 NULL pfam_EST1 - no_errors SMG7 HGNC ENSG00000116698 tier1 rs149950850 - 34 0 0.00 44 14 24.14 SMG7 0 genome.wustl.edu 37 1 183518965 183518965 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 183518965 183518965 G T SNP SMG7 ENST00000507469 human ensembl 74_37 +1 known missense c.2902 p.A968S 1.000 NULL pfam_EST1 - no_errors SMG7 HGNC ENSG00000116698 tier1 - - 46 0 0.00 52 4 7.14 SMOC1 0 genome.wustl.edu 37 14 70477591 70477591 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 70477591 70477591 G A SNP SMOC1 ENST00000361956 human ensembl 74_37 +1 known missense c.785 p.C262Y 1.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SMOC1 HGNC ENSG00000198732 tier1 - - 20 0 0.00 11 10 47.62 SMURF2 0 genome.wustl.edu 37 17 62602752 62602752 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 62602752 62602752 C T SNP SMURF2 ENST00000262435 human ensembl 74_37 -1 known missense c.59 p.C20Y 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors SMURF2 HGNC ENSG00000108854 tier1 - - 46 0 0.00 28 15 34.88 SMYD1 0 genome.wustl.edu 37 2 88383895 88383895 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 88383895 88383895 G A SNP SMYD1 ENST00000419482 human ensembl 74_37 +1 known silent c.198 p.G66 0.947 pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_Znf_MYND pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD1 HGNC ENSG00000115593 tier1 - - 54 0 0.00 31 25 44.64 SNAP47 0 genome.wustl.edu 37 1 227935790 227935790 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 227935790 227935790 G - DEL SNAP47 ENST00000366759 human ensembl 74_37 +1 known frame_shift_del c.488 p.G164fs 1.000 NULL pfscan_T_SNARE_dom - no_errors SNAP47 HGNC ENSG00000143740 tier1 60 0 0.00 48 9 15.79 SNAP91 0 genome.wustl.edu 37 6 84333061 84333061 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 84333061 84333061 G T SNP SNAP91 ENST00000369694 human ensembl 74_37 -1 known missense c.766 p.Q256K 1.000 pfam_ANTH_dom pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC ENSG00000065609 27 0 0.00 31 2 6.06 SNAPC4 0 genome.wustl.edu 37 9 139278451 139278452 + Frame_Shift_Ins INS - - G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 139278451 139278452 - G INS SNAPC4 ENST00000298532 human ensembl 74_37 -1 known frame_shift_ins c.1454_1453 p.H485fs 1.000:1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 tier1 53 0 0.00 42 14 25.00 SNCG 0 genome.wustl.edu 37 10 88719881 88719881 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 88719881 88719881 G T SNP SNCG ENST00000372017 human ensembl 74_37 +1 known missense c.287 p.R96L 0.052 pfam_Synuclein,prints_Synuclein,prints_Synuclein_gamma pfam_Synuclein,prints_Synuclein,prints_Synuclein_gamma - no_errors SNCG HGNC ENSG00000173267 tier1 - - 43 0 0.00 18 14 43.75 SND1 0 genome.wustl.edu 37 7 127714589 127714589 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 127714589 127714589 C T SNP SND1 ENST00000354725 human ensembl 74_37 +1 known silent c.1815 p.G605 1.000 pfam_Staphylococal_nuclease_OB-fold,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococal_nuclease_OB-fold pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold - no_errors SND1 HGNC ENSG00000197157 tier1 - - 30 0 0.00 10 11 52.38 SNHG14 0 genome.wustl.edu 37 15 25332684 25332684 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 25332684 25332684 G A SNP SNHG14 ENST00000546682 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 44 0 0.00 32 8 19.51 SNHG14 0 genome.wustl.edu 37 15 25438540 25438540 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 25438540 25438540 G A SNP SNHG14 ENST00000363358 human ensembl 74_37 +1 known rna NULL NULL 0.717 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 114 0 0.00 59 44 42.72 SNHG5 0 genome.wustl.edu 37 6 86387037 86387038 + RNA DEL TT TT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 86387037 86387038 TT - DEL SNHG5 ENST00000384338 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors SNHG5 HGNC ENSG00000203875 tier1 49 0 0.00 33 10 23.26 SNORA72 0 genome.wustl.edu 37 8 99054504 99054504 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 99054504 99054504 T - DEL SNORA72 ENST00000501016 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors KB-1208A12.3 Clone_based_vega_gene ENSG00000245970 tier1 28 0 0.00 44 11 20.00 SNORD116-10 0 genome.wustl.edu 37 15 25319288 25319291 + RNA DEL TTTT TTTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTTT TTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 25319288 25319291 TTTT - DEL SNORD116-10 ENST00000363791 human ensembl 74_37 +1 known rna NULL NULL 0.014:0.018:0.019:0.039 - - - no_errors SNORD116-10 HGNC ENSG00000200661 tier1 39 0 0.00 30 11 26.83 SNORD116-10 0 genome.wustl.edu 37 15 25319288 25319292 + RNA DEL TTTTT TTTTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTTTT TTTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 25319288 25319292 TTTTT 0 DEL SNORD116-10 ENST00000363791 human ensembl 74_37 +1 known rna NULL NULL 0.014:0.018:0.019:0.039:0.200 - - - no_errors SNORD116-10 HGNC ENSG00000200661 39 0 0.00 30 11 26.83 SNORD116-30 0 genome.wustl.edu 37 15 25353432 25353434 + RNA DEL AAA AAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 25353432 25353434 AAA - DEL SNORD116-30 ENST00000516468 human ensembl 74_37 +1 known rna NULL NULL 0.009:0.012:0.012 - - - no_errors SNORD116-30 HGNC ENSG00000252277 tier1 12 0 0.00 9 6 40.00 SNORD116-6 0 genome.wustl.edu 37 15 25310193 25310193 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 25310193 25310193 A - DEL SNORD116-6 ENST00000384711 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORD116-6 HGNC ENSG00000207442 tier1 113 0 0.00 40 34 45.95 SNRNP35 0 genome.wustl.edu 37 12 123950525 123950525 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 123950525 123950525 A - DEL SNRNP35 ENST00000412157 human ensembl 74_37 +1 known frame_shift_del c.453 p.K153fs 0.028 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SNRNP35 HGNC ENSG00000184209 tier1 52 0 0.00 42 21 33.33 SNRNP40 0 genome.wustl.edu 37 1 31732678 31732679 + RNA DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 31732678 31732679 AA - DEL SNRNP40 ENST00000486941 human ensembl 74_37 -1 known rna NULL NULL 0.040:0.034 - - - no_errors SNRNP40 HGNC ENSG00000060688 tier1 42 0 0.00 19 19 50.00 SNRNP70 0 genome.wustl.edu 37 19 49610906 49610906 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 49610906 49610906 G A SNP SNRNP70 ENST00000598441 human ensembl 74_37 +1 known missense c.602 p.R201K 1.000 NULL pfam_U1snRNP70_N,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SNRNP70 HGNC ENSG00000104852 tier1 - - 71 0 0.00 37 39 50.65 SNTB2 0 genome.wustl.edu 37 16 69317976 69317976 + Nonsense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 69317976 69317976 C T SNP SNTB2 ENST00000336278 human ensembl 74_37 +1 known nonsense c.1174 p.R392* 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTB2 HGNC ENSG00000168807 tier1 - - 104 0 0.00 27 53 66.25 SNTG1 0 genome.wustl.edu 37 8 51465618 51465618 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 51465618 51465618 C T SNP SNTG1 ENST00000518864 human ensembl 74_37 +1 known missense c.689 p.A230V 1.000 smart_Pleckstrin_homology pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTG1 HGNC ENSG00000147481 tier1 - - 51 0 0.00 43 28 39.44 SNUPN 0 genome.wustl.edu 37 15 75917121 75917121 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 75917121 75917121 T - DEL SNUPN ENST00000371091 human ensembl 74_37 -1 known frame_shift_del c.56 p.N19fs 0.114 NULL pfam_Snurportin-1_N,pirsf_Snurportin-1,pfscan_Importin-a_IBB - no_errors SNUPN HGNC ENSG00000169371 tier1 75 0 0.00 58 22 27.50 SNX1 0 genome.wustl.edu 37 15 64424092 64424092 + Splice_Site SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 64424092 64424092 G A SNP SNX1 ENST00000559844 human ensembl 74_37 +1 known splice_site c.1221+1 e11+1 1.000 - - - no_errors SNX1 HGNC ENSG00000028528 tier1 - - 44 0 0.00 15 10 40.00 SNX21 0 genome.wustl.edu 37 20 44470649 44470651 + RNA DEL TTT TTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 44470649 44470651 TTT - DEL SNX21 ENST00000344780 human ensembl 74_37 +1 known rna NULL NULL 0.017:0.013:0.007 - - - no_errors SNX21 HGNC ENSG00000124104 tier1 45 0 0.00 20 10 33.33 SNX25 0 genome.wustl.edu 37 4 186267693 186267693 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 186267693 186267693 C T SNP SNX25 ENST00000264694 human ensembl 74_37 +1 known silent c.1698 p.C566 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_RGS_dom,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX25 HGNC ENSG00000109762 tier1 - - 82 0 0.00 58 34 36.96 SNX29P2 0 genome.wustl.edu 37 16 29415176 29415176 + RNA SNP A A T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 29415176 29415176 A T SNP SNX29P2 ENST00000398878 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors SNX29P2 HGNC ENSG00000198106 tier1 - - 118 0 0.00 224 58 20.35 SNX31 0 genome.wustl.edu 37 8 101596401 101596401 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 101596401 101596401 T C SNP SNX31 ENST00000311812 human ensembl 74_37 -1 known missense c.1108 p.S370G 1.000 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX31 HGNC ENSG00000174226 tier1 - - 21 0 0.00 23 7 23.33 SNX32 0 genome.wustl.edu 37 11 65618607 65618607 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 65618607 65618607 G A SNP SNX32 ENST00000308342 human ensembl 74_37 +1 known missense c.685 p.D229N 0.993 pfam_Vps5_C,pirsf_Snx5_Snx6 pfam_Vps5_C,pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox - no_errors SNX32 HGNC ENSG00000172803 tier1 - - 42 0 0.00 26 12 31.58 SOCS3 0 genome.wustl.edu 37 17 76354966 76354966 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 76354966 76354966 G A SNP SOCS3 ENST00000330871 human ensembl 74_37 -1 known missense c.211 p.R71C 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS3 HGNC ENSG00000184557 tier1 - - 92 0 0.00 65 40 38.10 SOCS5 0 genome.wustl.edu 37 2 46986990 46986990 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 46986990 46986990 G A SNP SOCS5 ENST00000306503 human ensembl 74_37 +1 known missense c.1321 p.A441T 1.000 smart_SH2,pfscan_SH2 pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS5 HGNC ENSG00000171150 tier1 - - 58 0 0.00 36 22 37.93 SOGA2 0 genome.wustl.edu 37 18 8786015 8786015 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 8786015 8786015 C T SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known missense c.1813 p.R605W 0.453 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 tier1 - - 11 0 0.00 9 20 68.97 SORBS2 0 genome.wustl.edu 37 4 186583327 186583327 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 186583327 186583327 A G SNP SORBS2 ENST00000284776 human ensembl 74_37 -1 known missense c.25 p.S9P 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 tier1 - - 79 0 0.00 46 41 47.13 SORL1 0 genome.wustl.edu 37 11 121430341 121430341 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 121430341 121430341 G A SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known silent c.3024 p.K1008 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 tier1 - - 38 0 0.00 16 13 44.83 SOX21 0 genome.wustl.edu 37 13 95364174 95364174 + Missense_Mutation SNP C C G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 95364174 95364174 C G SNP SOX21 ENST00000376945 human ensembl 74_37 -1 known missense c.130 p.A44P 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom,prints_Antifreeze_1 - no_errors SOX21 HGNC ENSG00000125285 tier1 - - 77 0 0.00 80 23 22.33 SOX30 0 genome.wustl.edu 37 5 157065620 157065620 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 157065620 157065620 G T SNP SOX30 ENST00000265007 human ensembl 74_37 -1 known missense c.1498 p.P500T 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX30 HGNC ENSG00000039600 74 0 0.00 73 5 6.41 SOX6 0 genome.wustl.edu 37 11 16339919 16339922 + RNA DEL TTTT TTTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTTT TTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 16339919 16339922 TTTT - DEL SOX6 ENST00000533658 human ensembl 74_37 -1 known rna NULL NULL 0.017:0.042:0.057:0.893 - - - no_errors SOX6 HGNC ENSG00000110693 tier1 19 0 0.00 6 10 62.50 SP1 0 genome.wustl.edu 37 12 53777115 53777115 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 53777115 53777115 G A SNP SP1 ENST00000327443 human ensembl 74_37 +1 known missense c.1384 p.V462I 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP1 HGNC ENSG00000185591 tier1 - - 31 0 0.00 27 15 35.71 SP100 0 genome.wustl.edu 37 2 231371095 231371095 + Nonsense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 231371095 231371095 G T SNP SP100 ENST00000340126 human ensembl 74_37 +1 known nonsense c.1948 p.G650* 0.000 pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC ENSG00000067066 24 0 0.00 49 4 7.55 SP110 0 genome.wustl.edu 37 2 231037655 231037655 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 231037655 231037655 G A SNP SP110 ENST00000258381 human ensembl 74_37 -1 known silent c.1611 p.C537 0.866 superfamily_SAND_dom-like,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Sp100,pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP110 HGNC ENSG00000135899 tier1 - - 39 0 0.00 28 20 41.67 SP4 0 genome.wustl.edu 37 7 21469787 21469787 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 21469787 21469787 G T SNP SP4 ENST00000222584 human ensembl 74_37 +1 known missense c.1004 p.S335I 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP4 HGNC ENSG00000105866 tier1 - - 89 0 0.00 79 5 5.95 SPAG17 0 genome.wustl.edu 37 1 118539226 118539226 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 118539226 118539226 G T SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known silent c.4917 p.V1639 0.996 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 tier1 - - 29 0 0.00 49 4 7.55 SPAG4 0 genome.wustl.edu 37 20 34208642 34208642 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 34208642 34208642 G T SNP SPAG4 ENST00000374273 human ensembl 74_37 +1 known missense c.1114 p.G372W 1.000 pfam_Sad1_UNC_C,superfamily_Galactose-bd-like pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SPAG4 HGNC ENSG00000061656 tier1 - - 75 0 0.00 72 5 6.49 SPAG9 0 genome.wustl.edu 37 17 49075879 49075879 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 49075879 49075879 G A SNP SPAG9 ENST00000262013 human ensembl 74_37 -1 known silent c.1764 p.S588 0.165 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors SPAG9 HGNC ENSG00000008294 tier1 - - 82 0 0.00 46 41 47.13 SPATA13 0 genome.wustl.edu 37 13 24876772 24876772 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 24876772 24876772 G A SNP SPATA13 ENST00000382108 human ensembl 74_37 +1 known missense c.3695 p.G1232D 0.445 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors SPATA13 HGNC ENSG00000182957 tier1 - - 45 0 0.00 46 22 32.35 SPATA2 0 genome.wustl.edu 37 20 48522909 48522909 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 48522909 48522909 G T SNP SPATA2 ENST00000289431 human ensembl 74_37 -1 known silent c.810 p.A270 0.999 NULL NULL - no_errors SPATA2 HGNC ENSG00000158480 tier1 - - 76 0 0.00 53 5 8.62 SPATA20 0 genome.wustl.edu 37 17 48625088 48625088 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 48625088 48625088 G A SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known missense c.85 p.G29R 0.020 NULL pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 tier1 - - 33 0 0.00 21 22 51.16 SPATA21 0 genome.wustl.edu 37 1 16748029 16748029 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 16748029 16748029 G T SNP SPATA21 ENST00000335496 human ensembl 74_37 -1 known missense c.119 p.P40Q 0.011 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors SPATA21 HGNC ENSG00000187144 tier1 - - 43 0 0.00 40 4 9.09 SPATA3 0 genome.wustl.edu 37 2 231867434 231867434 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 231867434 231867434 C T SNP SPATA3 ENST00000424440 human ensembl 74_37 +1 known missense c.509 p.A170V 0.000 NULL NULL - no_errors SPATA3 HGNC ENSG00000173699 59 0 0.00 50 4 7.41 SPATA42 0 genome.wustl.edu 37 1 109400924 109400927 + RNA DEL TTTT TTTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTTT TTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 109400924 109400927 TTTT - DEL SPATA42 ENST00000417241 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001:0.012:0.000 - - - no_errors SPATA42 HGNC ENSG00000203897 tier1 21 0 0.00 13 7 35.00 SPATA5L1 0 genome.wustl.edu 37 15 45713277 45713277 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 45713277 45713277 G T SNP SPATA5L1 ENST00000305560 human ensembl 74_37 +1 known missense c.2131 p.A711S 0.438 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors SPATA5L1 HGNC ENSG00000171763 tier1 - - 63 0 0.00 73 5 6.41 SPATA6 0 genome.wustl.edu 37 1 48821240 48821240 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 48821240 48821240 T - DEL SPATA6 ENST00000487629 human ensembl 74_37 -1 known rna NULL NULL 0.023 - - - no_errors SPATA6 HGNC ENSG00000132122 tier1 11 0 0.00 8 6 42.86 SPECC1 0 genome.wustl.edu 37 17 20013849 20013849 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 20013849 20013849 C T SNP SPECC1 ENST00000261503 human ensembl 74_37 +1 known missense c.257 p.T86M 0.026 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 tier1 - - 42 0 0.00 16 20 55.56 SPEF2 0 genome.wustl.edu 37 5 35659190 35659190 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 35659190 35659190 G A SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known missense c.1048 p.V350M 0.998 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 tier1 - - 48 0 0.00 65 18 21.69 SPEG 0 genome.wustl.edu 37 2 220348876 220348876 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 220348876 220348876 C - DEL SPEG ENST00000312358 human ensembl 74_37 +1 novel frame_shift_del c.6691 p.Q2233fs 0.034 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 tier1 58 0 0.00 34 17 33.33 SPEM1 0 genome.wustl.edu 37 17 7324849 7324849 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 7324849 7324849 C - DEL SPEM1 ENST00000323675 human ensembl 74_37 +1 known frame_shift_del c.855 p.L287fs 0.492 NULL NULL - no_errors SPEM1 HGNC ENSG00000181323 tier1 36 0 0.00 27 14 34.15 SPHKAP 0 genome.wustl.edu 37 2 228882440 228882440 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 228882440 228882440 C A SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.3130 p.A1044S 1.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 tier1 - - 21 0 0.00 13 13 50.00 SPIRE2 0 genome.wustl.edu 37 16 89920954 89920954 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 89920954 89920954 G A SNP SPIRE2 ENST00000378247 human ensembl 74_37 +1 known silent c.786 p.V262 0.998 NULL superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE2 HGNC ENSG00000204991 tier1 - - 51 0 0.00 36 10 21.74 SPOCK1 0 genome.wustl.edu 37 5 136476303 136476303 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 136476303 136476303 C T SNP SPOCK1 ENST00000282223 human ensembl 74_37 -1 known missense c.313 p.A105T 1.000 NULL pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK1 HGNC ENSG00000152377 tier1 rs151283855 - 83 0 0.00 54 32 36.78 SPOCK2 0 genome.wustl.edu 37 10 73827995 73827995 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 73827995 73827995 C T SNP SPOCK2 ENST00000317376 human ensembl 74_37 -1 known missense c.539 p.C180Y 1.000 pfam_Kazal_dom,smart_Kazal_dom pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK2 HGNC ENSG00000107742 tier1 - - 74 0 0.00 26 17 39.53 SPP1 0 genome.wustl.edu 37 4 88903739 88903739 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 88903739 88903739 C T SNP SPP1 ENST00000395080 human ensembl 74_37 +1 known silent c.636 p.N212 0.000 pfam_Osteopontin,smart_Osteopontin pfam_Osteopontin,smart_Osteopontin,prints_Osteopontin - no_errors SPP1 HGNC ENSG00000118785 tier1 - - 68 0 0.00 44 24 35.29 SPRED1 0 genome.wustl.edu 37 15 38545225 38545225 + RNA DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 38545225 38545225 G - DEL SPRED1 ENST00000561205 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors SPRED1 HGNC ENSG00000166068 tier1 12 0 0.00 6 4 40.00 SPTA1 0 genome.wustl.edu 37 1 158623217 158623217 + Splice_Site SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 158623217 158623217 T C SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known splice_site c.3037-2 e22-2 1.000 - - - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 36 0 0.00 25 16 39.02 SPTBN1 0 genome.wustl.edu 37 2 54891759 54891759 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 54891759 54891759 C T SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known missense c.6590 p.S2197L 0.478 pirsf_Spectrin_bsu,pfscan_Pleckstrin_homology pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 tier1 - - 29 0 0.00 23 9 28.12 SPTBN2 0 genome.wustl.edu 37 11 66458942 66458942 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 66458942 66458942 C T SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known missense c.5378 p.R1793Q 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 SPTBN2 HGNC ENSG00000173898 tier1 - - 44 0 0.00 15 12 44.44 SPTBN2 0 genome.wustl.edu 37 11 66466466 66466466 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 66466466 66466466 G A SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known silent c.3864 p.H1288 0.222 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 tier1 - - 33 0 0.00 19 15 44.12 SPTBN2 0 genome.wustl.edu 37 11 66481107 66481107 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 66481107 66481107 G T SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known missense c.767 p.P256H 1.000 pirsf_Spectrin_bsu,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 tier1 - - 105 0 0.00 118 7 5.60 SPTBN4 0 genome.wustl.edu 37 19 41055125 41055125 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 41055125 41055125 C T SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.4390 p.R1464C 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 ENSG00000160460 tier1 - - 20 0 0.00 11 3 21.43 SPTBN5 0 genome.wustl.edu 37 15 42171563 42171563 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 42171563 42171563 A G SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known missense c.3077 p.L1026P 0.000 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 tier1 - - 62 0 0.00 39 17 30.36 SPTBN5 0 genome.wustl.edu 37 15 42185690 42185690 + Silent SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 42185690 42185690 A G SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known silent c.6 p.A2 0.002 NULL pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 tier1 - - 22 0 0.00 19 9 32.14 SRC 0 genome.wustl.edu 37 20 36033634 36033635 + RNA DEL TT TT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 36033634 36033635 TT - DEL SRC ENST00000477066 human ensembl 74_37 +1 known rna NULL NULL 0.070:0.027 - - - no_errors SRC HGNC ENSG00000197122 tier1 43 0 0.00 19 17 47.22 SRM 0 genome.wustl.edu 37 1 11115982 11115982 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 11115982 11115982 G T SNP SRM ENST00000376957 human ensembl 74_37 -1 known silent c.621 p.G207 0.001 pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase - no_errors SRM HGNC ENSG00000116649 59 0 0.00 35 3 7.89 SRRM2 0 genome.wustl.edu 37 16 2814067 2814069 + In_Frame_Del DEL CCT CCT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 2814067 2814069 CCT - DEL SRRM2 ENST00000301740 human ensembl 74_37 +1 known in_frame_del c.3538_3540 p.P1181in_frame_del 0.100:0.225:0.237 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 tier1 13 0 0.00 7 9 56.25 SRSF6 0 genome.wustl.edu 37 20 42088772 42088772 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 42088772 42088772 C T SNP SRSF6 ENST00000244020 human ensembl 74_37 +1 known missense c.481 p.R161C 1.000 pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF6 HGNC ENSG00000124193 tier1 - - 44 0 0.00 31 17 35.42 SSBP3 0 genome.wustl.edu 37 1 54692427 54692427 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 54692427 54692427 A - DEL SSBP3 ENST00000326956 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SSBP3 HGNC ENSG00000157216 tier1 55 0 0.00 37 18 32.73 SSH3 0 genome.wustl.edu 37 11 67076853 67076853 + RNA SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 67076853 67076853 G T SNP SSH3 ENST00000531495 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors SSH3 HGNC ENSG00000172830 tier1 - - 61 0 0.00 62 4 6.06 SSPO 0 genome.wustl.edu 37 7 149516520 149516520 + RNA DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 149516520 149516520 C - DEL SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.642 - - - no_errors SSPO HGNC ENSG00000197558 tier1 19 0 0.00 19 7 26.92 SSTR1 0 genome.wustl.edu 37 14 38678935 38678935 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 38678935 38678935 T C SNP SSTR1 ENST00000267377 human ensembl 74_37 +1 known missense c.341 p.L114P 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_NPY_rcpt,prints_Neuropept_B/W_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_1,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Neuropept_B/W_rcpt - no_errors SSTR1 HGNC ENSG00000139874 tier1 - - 81 0 0.00 11 21 65.62 ST14 0 genome.wustl.edu 37 11 130079458 130079458 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 130079458 130079458 C T SNP ST14 ENST00000278742 human ensembl 74_37 +1 known silent c.2391 p.G797 0.961 pirsf_Peptidase_S1A_matripase,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Peptidase_S1A_matripase,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors ST14 HGNC ENSG00000149418 tier1 - - 41 0 0.00 20 13 39.39 ST6GAL2 0 genome.wustl.edu 37 2 107459563 107459563 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 107459563 107459563 G - DEL ST6GAL2 ENST00000361686 human ensembl 74_37 -1 known frame_shift_del c.871 p.R291fs 0.371 pfam_Glyco_trans_29 pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 tier1 30 0 0.00 11 7 38.89 ST6GALNAC6 0 genome.wustl.edu 37 9 130653132 130653132 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 130653132 130653132 C T SNP ST6GALNAC6 ENST00000291839 human ensembl 74_37 -1 known missense c.488 p.R163H 0.998 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC6 HGNC ENSG00000160408 tier1 - - 48 0 0.00 24 17 41.46 ST7 0 genome.wustl.edu 37 7 116660605 116660605 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 116660605 116660605 T - DEL ST7 ENST00000462544 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ST7 HGNC ENSG00000004866 tier1 25 0 0.00 15 13 46.43 STAB1 0 genome.wustl.edu 37 3 52538076 52538076 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 52538076 52538076 G A SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.1055 p.G352E 1.000 smart_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 tier1 - - 52 0 0.00 37 19 33.93 STAB1 0 genome.wustl.edu 37 3 52551565 52551565 + Splice_Site SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 52551565 52551565 G T SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known splice_site c.4564-1 e44-1 1.000 - - - no_errors STAB1 HGNC ENSG00000010327 tier1 - - 70 0 0.00 25 13 34.21 STAB2 0 genome.wustl.edu 37 12 104015856 104015856 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 104015856 104015856 G T SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.454 p.D152Y 0.556 smart_EGF_laminin pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 tier1 - - 74 0 0.00 70 4 5.41 STAB2 0 genome.wustl.edu 37 12 104048365 104048366 + Frame_Shift_Ins INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 104048365 104048366 - A INS STAB2 ENST00000388887 human ensembl 74_37 +1 known frame_shift_ins c.1440_1441 p.K482fs 0.998:1.000 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 tier1 58 0 0.00 26 20 43.48 STAB2 0 genome.wustl.edu 37 12 104099500 104099500 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 104099500 104099500 G T SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.3991 p.V1331F 0.105 NULL pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 tier1 - - 69 0 0.00 78 5 6.02 STAB2 0 genome.wustl.edu 37 12 104118858 104118858 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 104118858 104118858 G T SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.4789 p.G1597C 0.999 superfamily_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 tier1 - - 61 0 0.00 59 4 6.25 STAC2 0 genome.wustl.edu 37 17 37381682 37381682 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 37381682 37381682 G A SNP STAC2 ENST00000333461 human ensembl 74_37 -1 known missense c.74 p.A25V 0.959 NULL pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox - no_errors STAC2 HGNC ENSG00000141750 tier1 - - 74 0 0.00 26 20 43.48 STAG3L3 0 genome.wustl.edu 37 7 72470041 72470042 + RNA DEL CT CT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 72470041 72470042 CT - DEL STAG3L3 ENST00000423834 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors STAG3L3 HGNC ENSG00000174353 tier1 401 0 0.00 323 62 16.10 STAG3L4 0 genome.wustl.edu 37 7 66767611 66767613 + RNA DEL TTT TTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 66767611 66767613 TTT - DEL STAG3L4 ENST00000416602 human ensembl 74_37 +1 known rna NULL NULL 0.034:0.032:0.030 - - - no_errors STAG3L4 HGNC ENSG00000106610 tier1 79 0 0.00 46 11 19.30 STAG3L4 0 genome.wustl.edu 37 7 66767623 66767624 + RNA DEL TC TC - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 66767623 66767624 TC - DEL STAG3L4 ENST00000416602 human ensembl 74_37 +1 known rna NULL NULL 0.016:0.014 - - - no_errors STAG3L4 HGNC ENSG00000106610 tier1 74 0 0.00 43 16 27.12 STAG3L5P-PVRIG2P-PILRB 0 genome.wustl.edu 37 7 99943553 99943554 + RNA DEL TT TT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 99943553 99943554 TT - DEL STAG3L5P-PVRIG2P-PILRB ENST00000310771 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.003 - - - no_errors STAG3L5P-PVRIG2P-PILRB HGNC ENSG00000272752 tier1 18 0 0.00 15 13 46.43 STAMBPL1 0 genome.wustl.edu 37 10 90676487 90676487 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 90676487 90676487 G T SNP STAMBPL1 ENST00000371927 human ensembl 74_37 +1 known silent c.954 p.A318 0.002 pfam_JAB_MPN_dom,smart_JAB_MPN_dom pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors STAMBPL1 HGNC ENSG00000138134 tier1 - - 51 0 0.00 52 4 7.14 STAP2 0 genome.wustl.edu 37 19 4325468 4325468 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 4325468 4325468 G T SNP STAP2 ENST00000600324 human ensembl 74_37 -1 known missense c.904 p.P302T 0.011 NULL pfscan_SH2 - no_errors STAP2 HGNC ENSG00000178078 52 0 0.00 43 4 8.51 STARD9 0 genome.wustl.edu 37 15 42974345 42974345 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 42974345 42974345 G A SNP STARD9 ENST00000290607 human ensembl 74_37 +1 known silent c.2109 p.L703 0.187 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 tier1 - - 77 0 0.00 26 17 39.53 STAT5A 0 genome.wustl.edu 37 17 40459723 40459723 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 40459723 40459723 G A SNP STAT5A ENST00000345506 human ensembl 74_37 +1 known missense c.1888 p.A630T 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5A HGNC ENSG00000126561 tier1 - - 31 0 0.00 15 9 37.50 STIL 0 genome.wustl.edu 37 1 47746485 47746485 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 47746485 47746485 C T SNP STIL ENST00000371877 human ensembl 74_37 -1 known missense c.1645 p.E549K 0.925 NULL NULL - no_errors STIL HGNC ENSG00000123473 tier1 - - 70 0 0.00 44 27 38.03 STK32C 0 genome.wustl.edu 37 10 134036380 134036380 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 134036380 134036380 C T SNP STK32C ENST00000368625 human ensembl 74_37 -1 known silent c.1143 p.P381 0.005 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK32C HGNC ENSG00000165752 tier1 - - 37 0 0.00 10 14 58.33 STRADA 0 genome.wustl.edu 37 17 61781804 61781804 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 61781804 61781804 G - DEL STRADA ENST00000336174 human ensembl 74_37 -1 known frame_shift_del c.997 p.R333fs 0.626 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STRADA HGNC ENSG00000266173 tier1 56 0 0.00 35 10 22.22 STRADA 0 genome.wustl.edu 37 17 61781804 61781804 + Missense_Mutation SNP G G C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 61781804 61781804 G C SNP STRADA ENST00000336174 human ensembl 74_37 -1 known missense c.997 p.R333G 0.626 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STRADA HGNC ENSG00000266173 56 0 0.00 32 3 6.67 STT3B 0 genome.wustl.edu 37 3 31677497 31677497 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 31677497 31677497 T C SNP STT3B ENST00000295770 human ensembl 74_37 +1 known missense c.2422 p.Y808H 1.000 NULL pfam_Oligo_trans_STT3 - no_errors STT3B HGNC ENSG00000163527 tier1 - - 52 0 0.00 31 19 38.00 STT3B 0 genome.wustl.edu 37 3 31677794 31677794 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 31677794 31677794 T - DEL STT3B ENST00000463044 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors STT3B HGNC ENSG00000163527 tier1 11 0 0.00 0 4 100.00 STX2 0 genome.wustl.edu 37 12 131283099 131283100 + Frame_Shift_Ins INS - - T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 131283099 131283100 - T INS STX2 ENST00000392373 human ensembl 74_37 -1 known frame_shift_ins c.757_756 p.A252fs 1.000:0.955 pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX2 HGNC ENSG00000111450 tier1 71 0 0.00 54 21 28.00 STXBP1 0 genome.wustl.edu 37 9 130444703 130444703 + Nonsense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 130444703 130444703 G A SNP STXBP1 ENST00000373299 human ensembl 74_37 +1 known nonsense c.1566 p.W522* 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP1 HGNC ENSG00000136854 tier1 - - 31 0 0.00 16 15 48.39 STXBP3 0 genome.wustl.edu 37 1 109315355 109315355 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 109315355 109315355 A - DEL STXBP3 ENST00000370008 human ensembl 74_37 +1 known frame_shift_del c.507 p.D171fs 0.327 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP3 HGNC ENSG00000116266 tier1 31 0 0.00 19 13 40.62 SUCO 0 genome.wustl.edu 37 1 172554204 172554204 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 172554204 172554204 A - DEL SUCO ENST00000608151 human ensembl 74_37 +1 known frame_shift_del c.2001 p.T669fs 1.000 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC ENSG00000094975 tier1 42 0 0.00 68 22 24.44 SUN2 0 genome.wustl.edu 37 22 39138454 39138454 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 39138454 39138454 C T SNP SUN2 ENST00000216064 human ensembl 74_37 -1 known missense c.920 p.R307H 0.077 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN2 HGNC ENSG00000100242 tier1 - - 43 0 0.00 22 17 43.59 SURF6 0 genome.wustl.edu 37 9 136198675 136198675 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 136198675 136198675 C T SNP SURF6 ENST00000468290 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SURF6 HGNC ENSG00000148296 tier1 - - 23 0 0.00 19 7 26.92 SUSD1 0 genome.wustl.edu 37 9 114860860 114860860 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 114860860 114860860 G T SNP SUSD1 ENST00000374264 human ensembl 74_37 -1 known missense c.1364 p.P455H 0.003 NULL pfam_EGF-like_Ca-bd_dom,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD1 HGNC ENSG00000106868 tier1 - - 76 0 0.00 45 28 38.36 SUSD2 0 genome.wustl.edu 37 22 24584236 24584236 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 24584236 24584236 C T SNP SUSD2 ENST00000358321 human ensembl 74_37 +1 known silent c.2385 p.L795 0.515 NULL pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Sushi_SCR_CCP,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD2 HGNC ENSG00000099994 tier1 rs146576308 - 60 0 0.00 25 18 40.91 SUSD3 0 genome.wustl.edu 37 9 95838089 95838089 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 95838089 95838089 C - DEL SUSD3 ENST00000375472 human ensembl 74_37 +1 known frame_shift_del c.112 p.P39fs 0.494 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD3 HGNC ENSG00000157303 tier1 47 0 0.00 30 12 28.57 SUSD4 0 genome.wustl.edu 37 1 223408392 223408392 + Missense_Mutation SNP A A T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 223408392 223408392 A T SNP SUSD4 ENST00000344029 human ensembl 74_37 -1 known missense c.775 p.L259M 0.000 NULL pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD4 HGNC ENSG00000143502 tier1 - - 18 0 0.00 23 9 28.12 SUV39H1 0 genome.wustl.edu 37 X 48564745 48564745 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 48564745 48564745 C T SNP SUV39H1 ENST00000453214 human ensembl 74_37 +1 known missense c.461 p.T154M 0.960 NULL NULL - no_errors SUV39H1 HGNC ENSG00000101945 tier1 rs141546891 - 52 0 0.00 11 42 79.25 SVEP1 0 genome.wustl.edu 37 9 113173449 113173449 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 113173449 113173449 T C SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.6542 p.E2181G 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 tier1 - - 84 0 0.00 50 20 28.57 SVIL 0 genome.wustl.edu 37 10 29820936 29820936 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 29820936 29820936 C T SNP SVIL ENST00000355867 human ensembl 74_37 -1 known silent c.2004 p.S668 0.003 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 tier1 - - 31 0 0.00 34 10 22.73 SVOPL 0 genome.wustl.edu 37 7 138333812 138333812 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 138333812 138333812 C T SNP SVOPL ENST00000288513 human ensembl 74_37 -1 known missense c.149 p.R50H 1.000 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SVOPL HGNC ENSG00000157703 83 0 0.00 60 4 6.25 SYBU 0 genome.wustl.edu 37 8 110587964 110587964 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 110587964 110587964 A G SNP SYBU ENST00000276646 human ensembl 74_37 -1 known missense c.1163 p.L388P 0.998 NULL NULL - no_errors SYBU HGNC ENSG00000147642 tier1 - - 62 0 0.00 49 21 30.00 SYCP1 0 genome.wustl.edu 37 1 115537601 115537601 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 115537601 115537601 A - DEL SYCP1 ENST00000369518 human ensembl 74_37 +1 known frame_shift_del c.2892 p.K967fs 1.000 NULL pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 tier1 35 0 0.00 23 12 34.29 SYCP2 0 genome.wustl.edu 37 20 58452519 58452519 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 58452519 58452519 T - DEL SYCP2 ENST00000357552 human ensembl 74_37 -1 known frame_shift_del c.3071 p.N1024fs 1.000 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 tier1 53 0 0.00 63 21 25.00 SYCP2 0 genome.wustl.edu 37 20 58467047 58467047 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 58467047 58467047 T - DEL SYCP2 ENST00000357552 human ensembl 74_37 -1 known frame_shift_del c.2362 p.M788fs 0.029 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 tier1 53 0 0.00 36 17 32.08 SYCP2L 0 genome.wustl.edu 37 6 10903158 10903158 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 10903158 10903158 A - DEL SYCP2L ENST00000283141 human ensembl 74_37 +1 known frame_shift_del c.603 p.K203fs 0.010 NULL NULL - no_errors SYCP2L HGNC ENSG00000153157 tier1 65 0 0.00 30 26 46.43 SYN2 0 genome.wustl.edu 37 3 12225293 12225293 + RNA DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 12225293 12225293 G - DEL SYN2 ENST00000432424 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SYN2 HGNC ENSG00000157152 tier1 29 0 0.00 18 12 40.00 SYN3 0 genome.wustl.edu 37 22 32924884 32924884 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 32924884 32924884 C A SNP SYN3 ENST00000332840 human ensembl 74_37 -1 known missense c.1207 p.A403S 0.360 NULL pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_dom,prints_Synapsin - no_errors SYN3 HGNC ENSG00000185666 tier1 - - 13 0 0.00 8 6 42.86 SYNDIG1 0 genome.wustl.edu 37 20 24523996 24523996 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 24523996 24523996 G A SNP SYNDIG1 ENST00000376862 human ensembl 74_37 +1 known missense c.263 p.R88Q 0.903 NULL pfam_CD225/Dispanin_fam - no_errors SYNDIG1 HGNC ENSG00000101463 tier1 - - 56 0 0.00 21 23 52.27 SYNE1 0 genome.wustl.edu 37 6 152711425 152711425 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 152711425 152711425 G T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.8167 p.H2723N 0.003 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 103 0 0.00 122 7 5.43 SYNE2 0 genome.wustl.edu 37 14 64450606 64450606 + Splice_Site SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 64450606 64450606 T C SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known splice_site c.2151+2 e17+2 1.000 - - - no_errors SYNE2 HGNC ENSG00000054654 tier1 - - 39 0 0.00 43 25 36.76 SYNGR4 0 genome.wustl.edu 37 19 48878957 48878957 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 48878957 48878957 G A SNP SYNGR4 ENST00000344846 human ensembl 74_37 +1 known missense c.419 p.S140N 0.492 pfam_Marvel,pirsf_Synaptogyrin pfam_Marvel,pirsf_Synaptogyrin - no_errors SYNGR4 HGNC ENSG00000105467 tier1 - - 57 0 0.00 23 11 32.35 SYNJ1 0 genome.wustl.edu 37 21 34018914 34018914 + Splice_Site SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 34018914 34018914 T C SNP SYNJ1 ENST00000433931 human ensembl 74_37 -1 known splice_site c.3155-2 e24-2 0.978 - - - no_errors SYNJ1 HGNC ENSG00000159082 tier1 - - 17 0 0.00 17 19 52.78 SYNJ1 0 genome.wustl.edu 37 21 34029062 34029062 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 34029062 34029062 A - DEL SYNJ1 ENST00000433931 human ensembl 74_37 -1 known frame_shift_del c.2847 p.F949fs 0.999 pfam_DUF1866,pfscan_RRM_dom pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ1 HGNC ENSG00000159082 tier1 35 0 0.00 32 17 34.69 SYNM 0 genome.wustl.edu 37 15 99670066 99670066 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 99670066 99670066 G A SNP SYNM ENST00000336292 human ensembl 74_37 +1 known missense c.1498 p.E500K 0.339 NULL pfam_IF - no_errors SYNM HGNC ENSG00000182253 tier1 - - 30 0 0.00 11 6 35.29 SYNM 0 genome.wustl.edu 37 15 99672504 99672504 + Silent SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 99672504 99672504 T C SNP SYNM ENST00000336292 human ensembl 74_37 +1 known silent c.3936 p.I1312 0.000 NULL pfam_IF - no_errors SYNM HGNC ENSG00000182253 tier1 - - 26 0 0.00 9 6 40.00 SYNPO 0 genome.wustl.edu 37 5 150027558 150027558 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 150027558 150027558 G A SNP SYNPO ENST00000394243 human ensembl 74_37 +1 known silent c.453 p.A151 0.002 NULL NULL - no_errors SYNPO HGNC ENSG00000171992 tier1 - - 35 0 0.00 26 15 35.71 SYNPO2 0 genome.wustl.edu 37 4 119951528 119951528 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 119951528 119951528 C T SNP SYNPO2 ENST00000307142 human ensembl 74_37 +1 known missense c.1598 p.T533M 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2 HGNC ENSG00000172403 tier1 - - 28 0 0.00 7 5 41.67 SYNPO2L 0 genome.wustl.edu 37 10 75407478 75407478 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 75407478 75407478 C T SNP SYNPO2L ENST00000394810 human ensembl 74_37 -1 known silent c.1932 p.T644 0.921 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2L HGNC ENSG00000166317 tier1 - - 43 0 0.00 25 6 19.35 SYNPO2L 0 genome.wustl.edu 37 10 75415607 75415608 + Frame_Shift_Ins INS - - C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 75415607 75415608 - C INS SYNPO2L ENST00000394810 human ensembl 74_37 -1 known frame_shift_ins c.74_73 p.A25fs 1.000:1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2L HGNC ENSG00000166317 tier1 65 0 0.00 29 24 45.28 SYT6 0 genome.wustl.edu 37 1 114680475 114680475 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 114680475 114680475 C T SNP SYT6 ENST00000393296 human ensembl 74_37 -1 known missense c.713 p.R238H 1.000 superfamily_C2_dom,prints_Synaptotagmin pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors SYT6 HGNC ENSG00000134207 tier1 rs201154501 - 88 0 0.00 70 40 36.36 SYT7 0 genome.wustl.edu 37 11 61309776 61309776 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 61309776 61309776 C T SNP SYT7 ENST00000539008 human ensembl 74_37 -1 novel missense c.848 p.R283Q 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT7 HGNC ENSG00000011347 tier1 - - 45 0 0.00 22 23 51.11 SYTL1 0 genome.wustl.edu 37 1 27677345 27677345 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 27677345 27677345 G A SNP SYTL1 ENST00000543823 human ensembl 74_37 +1 known missense c.1066 p.E356K 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ - no_errors SYTL1 HGNC ENSG00000142765 tier1 - - 41 0 0.00 24 20 45.45 SYTL2 0 genome.wustl.edu 37 11 85437604 85437604 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 85437604 85437604 G T SNP SYTL2 ENST00000359152 human ensembl 74_37 -1 known missense c.1468 p.P490T 0.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYTL2 HGNC ENSG00000137501 tier1 - - 40 0 0.00 42 4 8.70 SZT2 0 genome.wustl.edu 37 1 43909268 43909268 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 43909268 43909268 C T SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known missense c.8455 p.R2819W 1.000 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 tier1 - - 29 0 0.00 8 10 55.56 TAC4 0 genome.wustl.edu 37 17 47918915 47918915 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 47918915 47918915 T - DEL TAC4 ENST00000334568 human ensembl 74_37 -1 known frame_shift_del c.249 p.A84fs 0.021 NULL NULL - no_errors TAC4 HGNC ENSG00000176358 tier1 219 0 0.00 164 83 33.60 TACR3 0 genome.wustl.edu 37 4 104640371 104640371 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 104640371 104640371 G A SNP TACR3 ENST00000304883 human ensembl 74_37 -1 known silent c.462 p.G154 0.170 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt - no_errors TACR3 HGNC ENSG00000169836 tier1 - - 53 0 0.00 20 19 48.72 TADA1 0 genome.wustl.edu 37 1 166826910 166826910 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 166826910 166826910 A G SNP TADA1 ENST00000367874 human ensembl 74_37 -1 known missense c.902 p.I301T 1.000 NULL superfamily_Histone-fold - no_errors TADA1 HGNC ENSG00000152382 tier1 - - 68 0 0.00 72 14 16.28 TADA3 0 genome.wustl.edu 37 3 9825804 9825804 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 9825804 9825804 G A SNP TADA3 ENST00000301964 human ensembl 74_37 -1 known silent c.1014 p.S338 0.167 pfam_Histone_AcTrfase_su3 pfam_Histone_AcTrfase_su3 - no_errors TADA3 HGNC ENSG00000171148 tier1 - - 34 0 0.00 22 18 45.00 TAF1C 0 genome.wustl.edu 37 16 84214674 84214674 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 84214674 84214674 G - DEL TAF1C ENST00000378541 human ensembl 74_37 -1 known frame_shift_del c.1361 p.P454fs 0.870 NULL superfamily_WD40_repeat_dom - no_errors TAF1C HGNC ENSG00000103168 tier1 63 0 0.00 45 20 30.77 TAF1L 0 genome.wustl.edu 37 9 32630106 32630106 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 32630106 32630106 G A SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known silent c.5472 p.H1824 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 tier1 rs202147126 - 92 0 0.00 44 31 41.33 TAF4 0 genome.wustl.edu 37 20 60582619 60582619 + Missense_Mutation SNP A A T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 60582619 60582619 A T SNP TAF4 ENST00000252996 human ensembl 74_37 -1 known missense c.1958 p.L653H 1.000 pfam_TAFH_NHR1,smart_TAFH_NHR1,pfscan_TAFH_NHR1 pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4 HGNC ENSG00000130699 tier1 - - 46 0 0.00 19 13 40.62 TAF6 0 genome.wustl.edu 37 7 99709401 99709401 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 99709401 99709401 G A SNP TAF6 ENST00000344095 human ensembl 74_37 -1 known missense c.850 p.R284C 1.000 superfamily_ARM-type_fold pfam_DUF1546,pfam_TAF_TATA-bd,superfamily_Histone-fold,superfamily_ARM-type_fold,smart_TAF_TATA-bd - no_errors TAF6 HGNC ENSG00000106290 tier1 - - 69 0 0.00 55 22 28.57 TAGLN3 0 genome.wustl.edu 37 3 111719763 111719763 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 111719763 111719763 G A SNP TAGLN3 ENST00000273368 human ensembl 74_37 +1 known missense c.325 p.D109N 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,prints_SM22_calponin,pfscan_CH-domain pfam_CH-domain,pfam_Calponin_repeat,superfamily_CH-domain,smart_CH-domain,prints_SM22_calponin,pfscan_CH-domain,pfscan_Calponin_repeat - no_errors TAGLN3 HGNC ENSG00000144834 tier1 - - 145 0 0.00 68 43 38.74 TAGLN3 0 genome.wustl.edu 37 3 111730651 111730651 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 111730651 111730651 G T SNP TAGLN3 ENST00000273368 human ensembl 74_37 +1 known missense c.397 p.G133C 1.000 pfam_CH-domain,superfamily_CH-domain,prints_SM22_calponin,pfscan_CH-domain pfam_CH-domain,pfam_Calponin_repeat,superfamily_CH-domain,smart_CH-domain,prints_SM22_calponin,pfscan_CH-domain,pfscan_Calponin_repeat - no_errors TAGLN3 HGNC ENSG00000144834 tier1 - - 65 0 0.00 46 17 26.98 TAOK1 0 genome.wustl.edu 37 17 27778671 27778671 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 27778671 27778671 C T SNP TAOK1 ENST00000261716 human ensembl 74_37 +1 known silent c.105 p.G35 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK1 HGNC ENSG00000160551 tier1 - - 44 0 0.00 35 8 18.60 TAOK2 0 genome.wustl.edu 37 16 29989217 29989217 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 29989217 29989217 G A SNP TAOK2 ENST00000308893 human ensembl 74_37 +1 known missense c.124 p.V42I 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK2 HGNC ENSG00000149930 tier1 - - 64 0 0.00 37 26 41.27 TAOK2 0 genome.wustl.edu 37 16 29997584 29997584 + Splice_Site SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 29997584 29997584 A G SNP TAOK2 ENST00000308893 human ensembl 74_37 +1 known splice_site c.1993-2 e15-2 1.000 - - - no_errors TAOK2 HGNC ENSG00000149930 tier1 - - 72 0 0.00 31 15 32.61 TAP1 0 genome.wustl.edu 37 6 32818895 32818895 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 32818895 32818895 C T SNP TAP1 ENST00000354258 human ensembl 74_37 -1 known silent c.1056 p.T352 0.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_ABC_B2,tigrfam_Ag_transporter2 - no_errors TAP1 HGNC ENSG00000168394 tier1 - - 39 0 0.00 5 40 88.89 TARBP1 0 genome.wustl.edu 37 1 234529164 234529164 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 234529164 234529164 C T SNP TARBP1 ENST00000040877 human ensembl 74_37 -1 novel missense c.4504 p.D1502N 1.000 pfam_SpoU_MeTrfase pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 tier1 - - 65 0 0.00 33 17 34.00 TARDBP 0 genome.wustl.edu 37 1 11084334 11084334 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 11084334 11084334 T - DEL TARDBP ENST00000480464 human ensembl 74_37 +1 known rna NULL NULL 0.289 - - - no_errors TARDBP HGNC ENSG00000120948 tier1 12 0 0.00 10 13 56.52 TARSL2 0 genome.wustl.edu 37 15 102226169 102226169 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 102226169 102226169 C T SNP TARSL2 ENST00000335968 human ensembl 74_37 -1 known missense c.1417 p.E473K 1.000 pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARSL2 HGNC ENSG00000185418 tier1 - - 50 0 0.00 37 22 37.29 TAS1R1 0 genome.wustl.edu 37 1 6639284 6639284 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 6639284 6639284 G T SNP TAS1R1 ENST00000333172 human ensembl 74_37 +1 known missense c.2166 p.E722D 0.122 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R1 HGNC ENSG00000173662 tier1 - - 60 0 0.00 46 6 11.54 TAS2R64P 0 genome.wustl.edu 37 12 11230385 11230385 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 11230385 11230385 C T SNP TAS2R64P ENST00000534866 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TAS2R64P HGNC ENSG00000256274 tier1 - - 76 0 0.00 84 86 50.59 TBATA 0 genome.wustl.edu 37 10 72541636 72541636 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 72541636 72541636 G T SNP TBATA ENST00000299290 human ensembl 74_37 -1 known silent c.198 p.T66 1.000 NULL NULL - no_errors TBATA HGNC ENSG00000166220 tier1 - - 34 0 0.00 13 19 59.38 TBC1D1 0 genome.wustl.edu 37 4 38134424 38134427 + RNA DEL TTTT TTTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTTT TTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 38134424 38134427 TTTT - DEL TBC1D1 ENST00000405444 human ensembl 74_37 +1 known rna NULL NULL 0.018:0.027:0.074:0.101 - - - no_errors TBC1D1 HGNC ENSG00000065882 tier1 59 0 0.00 64 18 21.95 TBC1D31 0 genome.wustl.edu 37 8 124153106 124153106 + Nonsense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 124153106 124153106 G T SNP TBC1D31 ENST00000287380 human ensembl 74_37 +1 known nonsense c.2605 p.E869* 0.831 NULL pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors TBC1D31 HGNC ENSG00000156787 tier1 - - 44 0 0.00 70 5 6.67 TBC1D31 0 genome.wustl.edu 37 8 124162324 124162324 + Missense_Mutation SNP C C G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 124162324 124162324 C G SNP TBC1D31 ENST00000287380 human ensembl 74_37 +1 known missense c.3023 p.T1008S 0.113 NULL pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors TBC1D31 HGNC ENSG00000156787 34 0 0.00 45 3 6.25 TBC1D32 0 genome.wustl.edu 37 6 121412157 121412157 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 121412157 121412157 A - DEL TBC1D32 ENST00000275159 human ensembl 74_37 -1 putative frame_shift_del c.3619 p.W1207fs 1.000 superfamily_Rab-GTPase-TBC_dom superfamily_Rab-GTPase-TBC_dom - no_errors TBC1D32 HGNC ENSG00000146350 tier1 35 0 0.00 20 12 37.50 TBC1D3P2 0 genome.wustl.edu 37 17 60344514 60344514 + RNA SNP A A C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 60344514 60344514 A C SNP TBC1D3P2 ENST00000339120 human ensembl 74_37 -1 known rna NULL NULL 0.980 - - - no_errors TBC1D3P2 HGNC ENSG00000188755 tier1 - - 333 0 0.00 184 120 39.47 TBCK 0 genome.wustl.edu 37 4 107156505 107156505 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 107156505 107156505 T - DEL TBCK ENST00000273980 human ensembl 74_37 -1 known frame_shift_del c.1370 p.N457fs 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rhodanese-like_dom,superfamily_Kinase-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Rab-GTPase-TBC_dom,smart_Rhodanese-like_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Prot_kinase_dom,pfscan_Rhodanese-like_dom - no_errors TBCK HGNC ENSG00000145348 tier1 49 0 0.00 41 25 37.88 TBP 0 genome.wustl.edu 37 6 170881319 170881319 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 170881319 170881319 A G SNP TBP ENST00000230354 human ensembl 74_37 +1 known missense c.986 p.Y329C 1.000 pfam_TBP pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 tier1 - - 16 0 0.00 21 12 36.36 TBRG1 0 genome.wustl.edu 37 11 124502084 124502084 + Nonsense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 124502084 124502084 C T SNP TBRG1 ENST00000441174 human ensembl 74_37 +1 known nonsense c.1186 p.Q396* 1.000 NULL pfam_FYrich_N,pfam_FYrich_C,smart_FYrich_N,smart_FYrich_C - no_errors TBRG1 HGNC ENSG00000154144 tier1 - - 71 0 0.00 57 29 33.33 TBRG4 0 genome.wustl.edu 37 7 45144171 45144171 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 45144171 45144171 C T SNP TBRG4 ENST00000258770 human ensembl 74_37 -1 known silent c.873 p.T291 0.000 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors TBRG4 HGNC ENSG00000136270 tier1 - - 31 0 0.00 20 10 33.33 TBX2 0 genome.wustl.edu 37 17 59479054 59479054 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 59479054 59479054 C - DEL TBX2 ENST00000240328 human ensembl 74_37 +1 novel frame_shift_del c.405 p.F138fs 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury - no_errors TBX2 HGNC ENSG00000121068 tier1 56 0 0.00 18 11 37.93 TBX2 0 genome.wustl.edu 37 17 59485488 59485488 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 59485488 59485488 C T SNP TBX2 ENST00000240328 human ensembl 74_37 +1 novel missense c.1760 p.A587V 1.000 NULL pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury - no_errors TBX2 HGNC ENSG00000121068 tier1 - - 41 0 0.00 10 8 44.44 TBX3 0 genome.wustl.edu 37 12 115117754 115117754 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 115117754 115117754 G T SNP TBX3 ENST00000257566 human ensembl 74_37 -1 known missense c.681 p.H227Q 0.992 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX3 HGNC ENSG00000135111 tier1 - - 54 0 0.00 40 4 9.09 TBX5 0 genome.wustl.edu 37 12 114793595 114793595 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 114793595 114793595 C - DEL TBX5 ENST00000310346 human ensembl 74_37 -1 known frame_shift_del c.1299 p.L435fs 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 tier1 149 0 0.00 83 41 33.06 TCEA1 0 genome.wustl.edu 37 8 54900772 54900772 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 54900772 54900772 C T SNP TCEA1 ENST00000521604 human ensembl 74_37 -1 known missense c.368 p.R123Q 1.000 superfamily_TFIIS_cen_dom,pirsf_TF_IIS-rel,tigrfam_TFSII pfam_TFIIS_cen_dom,pfam_Znf_TFIIS,pfam_TFIIS_N,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII - no_errors TCEA1 HGNC ENSG00000187735 tier1 - - 32 0 0.00 44 15 25.42 TCEAL5 0 genome.wustl.edu 37 X 102529123 102529123 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 102529123 102529123 C - DEL TCEAL5 ENST00000372680 human ensembl 74_37 -1 known frame_shift_del c.369 p.T124fs 0.000 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL5 HGNC ENSG00000204065 tier1 65 0 0.00 19 44 69.84 TCEAL6 0 genome.wustl.edu 37 X 101396161 101396161 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 101396161 101396161 C T SNP TCEAL6 ENST00000372773 human ensembl 74_37 -1 known missense c.143 p.R48Q 0.000 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL6 HGNC ENSG00000204071 tier1 - - 94 0 0.00 14 61 81.33 TCEANC 0 genome.wustl.edu 37 X 13682669 13682669 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 13682669 13682669 T - DEL TCEANC ENST00000490617 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors TCEANC HGNC ENSG00000176896 tier1 34 0 0.00 7 14 66.67 TCERG1 0 genome.wustl.edu 37 5 145886723 145886723 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 145886723 145886723 A - DEL TCERG1 ENST00000296702 human ensembl 74_37 +1 known frame_shift_del c.2863 p.K957fs 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 tier1 32 0 0.00 19 19 50.00 TCF25 0 genome.wustl.edu 37 16 89951020 89951020 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 89951020 89951020 A - DEL TCF25 ENST00000263346 human ensembl 74_37 +1 known frame_shift_del c.385 p.K131fs 1.000 NULL pfam_TCF25 - no_errors TCF25 HGNC ENSG00000141002 tier1 46 0 0.00 34 11 24.44 TCF7L2 0 genome.wustl.edu 37 10 114925542 114925542 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 114925542 114925542 C T SNP TCF7L2 ENST00000355995 human ensembl 74_37 +1 known silent c.1671 p.L557 0.981 NULL pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7L2 HGNC ENSG00000148737 16 0 0.00 10 6 37.50 TCHH 0 genome.wustl.edu 37 1 152081168 152081168 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 152081168 152081168 G A SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.4525 p.R1509C 0.001 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 tier1 - - 85 0 0.00 75 27 26.47 TCHH 0 genome.wustl.edu 37 1 152084242 152084242 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 152084242 152084242 C A SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.1451 p.R484M 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 tier1 - - 201 0 0.00 140 62 30.54 TCP10 0 genome.wustl.edu 37 6 167794617 167794617 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 167794617 167794617 G A SNP TCP10 ENST00000397829 human ensembl 74_37 -1 known missense c.271 p.H91Y 0.000 NULL NULL - no_errors TCP10 HGNC ENSG00000203690 tier1 - - 33 0 0.00 24 14 36.84 TDG 0 genome.wustl.edu 37 12 104378572 104378572 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 104378572 104378572 C T SNP TDG ENST00000392872 human ensembl 74_37 +1 known missense c.838 p.P280S 1.000 superfamily_Uracil-DNA_glycosylase-like,tigrfam_Thymine-DNA_glycosylase pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Thymine-DNA_glycosylase - no_errors TDG HGNC ENSG00000139372 tier1 - - 57 0 0.00 36 19 34.55 TDRD1 0 genome.wustl.edu 37 10 115963887 115963887 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 115963887 115963887 T C SNP TDRD1 ENST00000251864 human ensembl 74_37 +1 known missense c.1037 p.V346A 0.950 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 tier1 - - 51 0 0.00 21 17 44.74 TDRD12 0 genome.wustl.edu 37 19 33301091 33301091 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 33301091 33301091 G T SNP TDRD12 ENST00000444215 human ensembl 74_37 +1 known missense c.2745 p.M915I 0.991 pfam_Tudor pfam_Tudor,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase - no_errors TDRD12 HGNC ENSG00000173809 tier1 - - 63 0 0.00 68 4 5.56 TDRD15 0 genome.wustl.edu 37 2 21362232 21362232 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 21362232 21362232 A - DEL TDRD15 ENST00000405799 human ensembl 74_37 +1 novel frame_shift_del c.1893 p.D634fs 0.009 NULL pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors TDRD15 HGNC ENSG00000218819 tier1 27 0 0.00 28 18 39.13 TDRD15 0 genome.wustl.edu 37 2 21365159 21365159 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 21365159 21365159 T - DEL TDRD15 ENST00000405799 human ensembl 74_37 +1 novel frame_shift_del c.4820 p.L1609fs 1.000 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors TDRD15 HGNC ENSG00000218819 tier1 26 0 0.00 25 13 34.21 TDRD5 0 genome.wustl.edu 37 1 179620102 179620102 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 179620102 179620102 T - DEL TDRD5 ENST00000444136 human ensembl 74_37 +1 known frame_shift_del c.1901 p.L636fs 1.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD5 HGNC ENSG00000162782 tier1 93 0 0.00 123 40 24.54 TDRKH 0 genome.wustl.edu 37 1 151753980 151753980 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 151753980 151753980 G T SNP TDRKH ENST00000368822 human ensembl 74_37 -1 known silent c.208 p.R70 0.980 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_Tudor,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1 - no_errors TDRKH HGNC ENSG00000182134 22 0 0.00 45 4 8.16 TEAD2 0 genome.wustl.edu 37 19 49850472 49850473 + Frame_Shift_Ins INS - - G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 49850472 49850473 - G INS TEAD2 ENST00000311227 human ensembl 74_37 -1 known frame_shift_ins c.884_883 p.H295fs 0.971:0.961 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 tier1 34 0 0.00 19 12 38.71 TEK 0 genome.wustl.edu 37 9 27158026 27158026 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 27158026 27158026 A - DEL TEK ENST00000380036 human ensembl 74_37 +1 known frame_shift_del c.250 p.V86fs 1.000 pfam_Tyr_kin_Tie2_Ig-like_dom-1_N pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 tier1 95 0 0.00 95 45 32.14 TEK 0 genome.wustl.edu 37 9 27180305 27180305 + Nonsense_Mutation SNP T T A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 27180305 27180305 T A SNP TEK ENST00000380036 human ensembl 74_37 +1 known nonsense c.969 p.C323* 0.995 smart_EG-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 tier1 - - 111 0 0.00 54 53 49.53 TEK 0 genome.wustl.edu 37 9 27212888 27212888 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 27212888 27212888 A - DEL TEK ENST00000380036 human ensembl 74_37 +1 known frame_shift_del c.2870 p.K958fs 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 tier1 65 0 0.00 36 18 33.33 TELO2 0 genome.wustl.edu 37 16 1545436 1545436 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 1545436 1545436 G A SNP TELO2 ENST00000262319 human ensembl 74_37 +1 known missense c.425 p.R142Q 0.777 NULL pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold - no_errors TELO2 HGNC ENSG00000100726 tier1 - - 54 0 0.00 26 16 38.10 TENM4 0 genome.wustl.edu 37 11 78369190 78369190 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 78369190 78369190 G A SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known silent c.8223 p.F2741 0.997 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 tier1 - - 28 0 0.00 12 15 55.56 TENM4 0 genome.wustl.edu 37 11 78443446 78443446 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 78443446 78443446 C T SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.3053 p.R1018H 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 tier1 - - 67 0 0.00 34 15 30.61 TENM4 0 genome.wustl.edu 37 11 78600941 78600941 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 78600941 78600941 G A SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.973 p.R325W 1.000 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 tier1 - - 45 0 0.00 24 13 35.14 TEX14 0 genome.wustl.edu 37 17 56700371 56700371 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 56700371 56700371 C T SNP TEX14 ENST00000240361 human ensembl 74_37 -1 known missense c.254 p.R85H 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors TEX14 HGNC ENSG00000121101 22 0 0.00 31 8 20.51 TEX19 0 genome.wustl.edu 37 17 80320144 80320144 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 80320144 80320144 G A SNP TEX19 ENST00000333437 human ensembl 74_37 +1 known missense c.118 p.A40T 0.085 NULL NULL - no_errors TEX19 HGNC ENSG00000182459 tier1 - - 100 0 0.00 48 34 41.46 TFAM 0 genome.wustl.edu 37 10 60148570 60148570 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 60148570 60148570 A - DEL TFAM ENST00000487519 human ensembl 74_37 +1 known frame_shift_del c.432 p.E148fs 0.006 superfamily_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TFAM HGNC ENSG00000108064 tier1 36 0 0.00 28 13 31.71 TFAP2D 0 genome.wustl.edu 37 6 50712911 50712911 + Silent SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 50712911 50712911 T C SNP TFAP2D ENST00000008391 human ensembl 74_37 +1 known silent c.975 p.H325 1.000 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_C - no_errors TFAP2D HGNC ENSG00000008197 tier1 - - 41 0 0.00 32 20 38.46 TFG 0 genome.wustl.edu 37 3 100467227 100467227 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 100467227 100467227 G T SNP TFG ENST00000240851 human ensembl 74_37 +1 known missense c.1055 p.S352I 1.000 NULL pfam_OPR_PB1,smart_OPR_PB1 - no_errors TFG HGNC ENSG00000114354 tier1 - - 56 0 0.00 52 4 7.14 TG 0 genome.wustl.edu 37 8 133906103 133906103 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 133906103 133906103 C T SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.2930 p.P977L 0.001 superfamily_Thyroglobulin_1,pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 tier1 - - 86 0 0.00 50 26 34.21 TGFB1I1 0 genome.wustl.edu 37 16 31488292 31488292 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 31488292 31488292 G A SNP TGFB1I1 ENST00000394863 human ensembl 74_37 +1 known silent c.1080 p.A360 0.941 pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM - no_errors TGFB1I1 HGNC ENSG00000140682 tier1 - - 37 0 0.00 12 13 52.00 TGFBR2 0 genome.wustl.edu 37 3 30691872 30691872 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 30691872 30691872 A - DEL TGFBR2 ENST00000359013 human ensembl 74_37 +1 known frame_shift_del c.449 p.K153fs 1.000 pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,prints_TGFB_receptor pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors TGFBR2 HGNC ENSG00000163513 tier1 35 0 0.00 38 18 32.14 TGFBR2 0 genome.wustl.edu 37 3 30691872 30691873 + Frame_Shift_Del DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 30691872 30691873 AA 0 DEL TGFBR2 ENST00000359013 human ensembl 74_37 +1 known frame_shift_del c.449_450 p.K153fs 1.000:0.990 pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,prints_TGFB_receptor pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors TGFBR2 HGNC ENSG00000163513 35 0 0.00 35 21 37.50 TGM2 0 genome.wustl.edu 37 20 36789862 36789862 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 36789862 36789862 G A SNP TGM2 ENST00000361475 human ensembl 74_37 -1 known silent c.150 p.Y50 0.938 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM2 HGNC ENSG00000198959 tier1 - - 47 0 0.00 26 32 55.17 TGOLN2 0 genome.wustl.edu 37 2 85555050 85555050 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 85555050 85555050 G T SNP TGOLN2 ENST00000377386 human ensembl 74_37 -1 known silent c.36 p.V12 0.138 NULL NULL - no_errors TGOLN2 HGNC ENSG00000152291 tier1 - - 104 0 0.00 91 7 7.14 THADA 0 genome.wustl.edu 37 2 43801837 43801837 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 43801837 43801837 G A SNP THADA ENST00000405006 human ensembl 74_37 -1 known missense c.1367 p.T456M 0.068 superfamily_ARM-type_fold pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 tier1 - - 57 0 0.00 19 21 52.50 THADA 0 genome.wustl.edu 37 2 43814114 43814114 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 43814114 43814114 A - DEL THADA ENST00000405006 human ensembl 74_37 -1 known frame_shift_del c.330 p.L111fs 0.055 NULL pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 tier1 28 0 0.00 10 4 28.57 THAP4 0 genome.wustl.edu 37 2 242572997 242572997 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 242572997 242572997 G A SNP THAP4 ENST00000407315 human ensembl 74_37 -1 known missense c.575 p.A192V 0.000 NULL pfam_DUF1794,pfam_Znf_C2CH,superfamily_Calycin-like,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP4 HGNC ENSG00000176946 tier1 - - 18 0 0.00 12 11 45.83 THBS3 0 genome.wustl.edu 37 1 155166890 155166890 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 155166890 155166890 G A SNP THBS3 ENST00000368378 human ensembl 74_37 -1 known missense c.2614 p.R872W 1.000 pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS3 HGNC ENSG00000169231 tier1 - - 97 0 0.00 75 18 19.35 THEMIS2 0 genome.wustl.edu 37 1 28208867 28208867 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 28208867 28208867 C T SNP THEMIS2 ENST00000373921 human ensembl 74_37 +1 known silent c.1032 p.G344 0.509 NULL NULL - no_errors THEMIS2 HGNC ENSG00000130775 tier1 - - 89 0 0.00 54 32 37.21 THOP1 0 genome.wustl.edu 37 19 2807603 2807603 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 2807603 2807603 C T SNP THOP1 ENST00000307741 human ensembl 74_37 +1 known silent c.1050 p.C350 0.910 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors THOP1 HGNC ENSG00000172009 tier1 - - 67 0 0.00 24 21 46.67 THSD7A 0 genome.wustl.edu 37 7 11676257 11676257 + Silent SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 11676257 11676257 A G SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known silent c.522 p.C174 1.000 superfamily_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 tier1 - - 23 0 0.00 6 6 50.00 TIAL1 0 genome.wustl.edu 37 10 121335157 121335157 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 121335157 121335157 T - DEL TIAL1 ENST00000463089 human ensembl 74_37 -1 known rna NULL NULL 0.987 - - - no_errors TIAL1 HGNC ENSG00000151923 tier1 56 0 0.00 59 18 23.38 TIAM1 0 genome.wustl.edu 37 21 32508318 32508318 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 32508318 32508318 G A SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known silent c.3816 p.T1272 0.565 smart_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 57 0 0.00 59 4 6.35 TICAM1 0 genome.wustl.edu 37 19 4816464 4816465 + Frame_Shift_Ins INS - - G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 4816464 4816465 - G INS TICAM1 ENST00000248244 human ensembl 74_37 -1 known frame_shift_ins c.1926_1925 p.P643fs 0.000:0.003 pirsf_TICAM1 superfamily_TIR_dom,pirsf_TICAM1 - no_errors TICAM1 HGNC ENSG00000127666 tier1 85 0 0.00 39 12 23.53 TIE1 0 genome.wustl.edu 37 1 43772910 43772910 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 43772910 43772910 C - DEL TIE1 ENST00000372476 human ensembl 74_37 +1 known frame_shift_del c.738 p.P248fs 0.382 smart_EG-like_dom,pfscan_EG-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 tier1 79 0 0.00 38 28 42.42 TIGD2 0 genome.wustl.edu 37 4 90035292 90035292 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 90035292 90035292 C - DEL TIGD2 ENST00000317005 human ensembl 74_37 +1 known frame_shift_del c.1167 p.P390fs 0.997 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD2 HGNC ENSG00000180346 tier1 27 0 0.00 24 2 7.69 TIGD4 0 genome.wustl.edu 37 4 153691396 153691396 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 153691396 153691396 G T SNP TIGD4 ENST00000304337 human ensembl 74_37 -1 known missense c.761 p.A254D 1.000 pfam_DDE_SF_endonuclease_CENPB-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,pfam_Centromere_CenpB_dimerisation,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD4 HGNC ENSG00000169989 tier1 - - 78 0 0.00 62 4 6.06 TIGD7 0 genome.wustl.edu 37 16 3349612 3349612 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 3349612 3349612 T C SNP TIGD7 ENST00000268674 human ensembl 74_37 -1 known missense c.1003 p.I335V 0.999 pfam_DDE_SF_endonuclease_CENPB-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD7 HGNC ENSG00000140993 tier1 - - 29 0 0.00 15 5 25.00 TIMM13 0 genome.wustl.edu 37 19 2426965 2426965 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 2426965 2426965 C A SNP TIMM13 ENST00000215570 human ensembl 74_37 -1 known missense c.269 p.R90L 1.000 superfamily_Tim10/DDP_fam_Znf pfam_Tim10/DDP_fam_Znf,superfamily_Tim10/DDP_fam_Znf - no_errors TIMM13 HGNC ENSG00000099800 tier1 - - 169 0 0.00 121 8 6.20 TIMP4 0 genome.wustl.edu 37 3 12198914 12198914 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 12198914 12198914 T - DEL TIMP4 ENST00000287814 human ensembl 74_37 -1 known frame_shift_del c.208 p.M70fs 1.000 pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain - no_errors TIMP4 HGNC ENSG00000157150 tier1 105 0 0.00 54 19 26.03 TLE1 0 genome.wustl.edu 37 9 84208174 84208174 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 84208174 84208174 G A SNP TLE1 ENST00000376499 human ensembl 74_37 -1 known silent c.1347 p.H449 1.000 superfamily_WD40_repeat_dom pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE1 HGNC ENSG00000196781 tier1 - - 72 0 0.00 44 4 8.33 TLK1 0 genome.wustl.edu 37 2 172016964 172016964 + RNA DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 172016964 172016964 C - DEL TLK1 ENST00000413010 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors TLK1 HGNC ENSG00000198586 tier1 66 0 0.00 37 22 37.29 TLK2 0 genome.wustl.edu 37 17 60637441 60637441 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 60637441 60637441 G A SNP TLK2 ENST00000326270 human ensembl 74_37 +1 known missense c.785 p.R262Q 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TLK2 HGNC ENSG00000146872 55 0 0.00 56 6 9.68 TLL1 0 genome.wustl.edu 37 4 166946529 166946529 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 166946529 166946529 C T SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known silent c.1104 p.G368 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 tier1 - - 64 0 0.00 43 21 32.81 TLR4 0 genome.wustl.edu 37 9 120476462 120476462 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 120476462 120476462 G T SNP TLR4 ENST00000355622 human ensembl 74_37 +1 known missense c.2056 p.D686Y 0.990 pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 tier1 - - 66 0 0.00 52 28 35.00 TM6SF1 0 genome.wustl.edu 37 15 83805312 83805312 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 83805312 83805312 T - DEL TM6SF1 ENST00000379386 human ensembl 74_37 +1 known frame_shift_del c.1010 p.L339fs 0.172 pfam_Transmembrane_6/97 pfam_Transmembrane_6/97 - no_errors TM6SF1 HGNC ENSG00000136404 tier1 33 0 0.00 20 12 37.50 TM7SF3 0 genome.wustl.edu 37 12 27127036 27127037 + Frame_Shift_Del DEL CT CT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 27127036 27127037 CT - DEL TM7SF3 ENST00000343028 human ensembl 74_37 -1 known frame_shift_del c.1575_1574 p.E525fs 0.999:1.000 NULL NULL - no_errors TM7SF3 HGNC ENSG00000064115 tier1 101 0 0.00 139 38 21.47 TM7SF3 0 genome.wustl.edu 37 12 27152717 27152717 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 27152717 27152717 A - DEL TM7SF3 ENST00000539399 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TM7SF3 HGNC ENSG00000064115 tier1 22 0 0.00 9 17 65.38 TM9SF2 0 genome.wustl.edu 37 13 100181733 100181735 + In_Frame_Del DEL AAG AAG - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 100181733 100181735 AAG - DEL TM9SF2 ENST00000376387 human ensembl 74_37 +1 known in_frame_del c.346_348 p.K117in_frame_del 1.000:1.000:0.993 pfam_EMP70 pfam_EMP70 - no_errors TM9SF2 HGNC ENSG00000125304 tier1 69 0 0.00 101 30 22.90 TMA16 0 genome.wustl.edu 37 4 164435265 164435265 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 164435265 164435265 A - DEL TMA16 ENST00000358572 human ensembl 74_37 +1 known frame_shift_del c.194 p.K67fs 0.343 pfam_Tma16 pfam_Tma16 - no_errors TMA16 HGNC ENSG00000198498 tier1 52 0 0.00 32 15 31.91 TMBIM4 0 genome.wustl.edu 37 12 66531937 66531937 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 66531937 66531937 A - DEL TMBIM4 ENST00000358230 human ensembl 74_37 -1 known frame_shift_del c.520 p.Y174fs 0.028 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors TMBIM4 HGNC ENSG00000155957 tier1 17 0 0.00 5 14 73.68 TMC3 0 genome.wustl.edu 37 15 81636316 81636316 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 81636316 81636316 C T SNP TMC3 ENST00000359440 human ensembl 74_37 -1 known missense c.1589 p.R530Q 1.000 pfam_TMC pfam_TMC - no_errors TMC3 HGNC ENSG00000188869 tier1 - - 25 0 0.00 21 8 27.59 TMCO2 0 genome.wustl.edu 37 1 40717178 40717178 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 40717178 40717178 C T SNP TMCO2 ENST00000372766 human ensembl 74_37 +1 known missense c.461 p.T154M 0.000 NULL NULL - no_errors TMCO2 HGNC ENSG00000188800 tier1 - - 8 0 0.00 11 4 26.67 TMEM116 0 genome.wustl.edu 37 12 112450930 112450930 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 112450930 112450930 G A SNP TMEM116 ENST00000552839 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TMEM116 HGNC ENSG00000198270 tier1 - - 39 0 0.00 16 17 51.52 TMEM119 0 genome.wustl.edu 37 12 108985490 108985490 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 108985490 108985490 C T SNP TMEM119 ENST00000392806 human ensembl 74_37 -1 known missense c.670 p.V224I 0.000 NULL NULL - no_errors TMEM119 HGNC ENSG00000183160 tier1 - - 57 0 0.00 31 19 38.00 TMEM132A 0 genome.wustl.edu 37 11 60704054 60704054 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 60704054 60704054 C T SNP TMEM132A ENST00000005286 human ensembl 74_37 +1 known missense c.2750 p.P917L 0.000 NULL NULL - no_errors TMEM132A HGNC ENSG00000006118 tier1 - - 22 0 0.00 12 4 25.00 TMEM132B 0 genome.wustl.edu 37 12 126138151 126138151 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 126138151 126138151 C T SNP TMEM132B ENST00000299308 human ensembl 74_37 +1 known missense c.2132 p.S711L 0.856 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 tier1 - - 69 0 0.00 44 28 38.36 TMEM132C 0 genome.wustl.edu 37 12 128899735 128899735 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 128899735 128899735 C T SNP TMEM132C ENST00000435159 human ensembl 74_37 +1 known missense c.544 p.R182W 0.030 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 tier1 - - 45 0 0.00 17 16 48.48 TMEM14C 0 genome.wustl.edu 37 6 10731012 10731012 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 10731012 10731012 A - DEL TMEM14C ENST00000467415 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TMEM14C HGNC ENSG00000111843 tier1 14 0 0.00 8 3 27.27 TMEM180 0 genome.wustl.edu 37 10 104235656 104235656 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 104235656 104235656 C T SNP TMEM180 ENST00000238936 human ensembl 74_37 +1 known missense c.1469 p.T490M 0.993 NULL superfamily_MFS_dom_general_subst_transpt - no_errors TMEM180 HGNC ENSG00000138111 tier1 - - 49 0 0.00 21 13 38.24 TMEM200B 0 genome.wustl.edu 37 1 29447499 29447499 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 29447499 29447499 C T SNP TMEM200B ENST00000420504 human ensembl 74_37 -1 known missense c.842 p.R281Q 1.000 NULL pfam_DUF2371_TMEM200 - no_errors TMEM200B HGNC ENSG00000253304 tier1 - - 42 0 0.00 27 5 15.62 TMEM201 0 genome.wustl.edu 37 1 9670669 9670669 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 9670669 9670669 G A SNP TMEM201 ENST00000340381 human ensembl 74_37 +1 known missense c.1571 p.R524H 1.000 NULL pfam_DUF2448,pfam_Ima1_N - no_errors TMEM201 HGNC ENSG00000188807 tier1 - - 28 0 0.00 14 12 46.15 TMEM241 0 genome.wustl.edu 37 18 20932195 20932195 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 20932195 20932195 G T SNP TMEM241 ENST00000383233 human ensembl 74_37 -1 known missense c.730 p.P244T 0.998 NULL NULL - no_errors TMEM241 HGNC ENSG00000134490 tier1 - - 61 0 0.00 58 5 7.94 TMEM254 0 genome.wustl.edu 37 10 81850737 81850737 + RNA SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 81850737 81850737 G T SNP TMEM254 ENST00000463029 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TMEM254 HGNC ENSG00000133678 tier1 - - 55 0 0.00 50 4 7.41 TMEM39A 0 genome.wustl.edu 37 3 119176962 119176962 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 119176962 119176962 A - DEL TMEM39A ENST00000319172 human ensembl 74_37 -1 known frame_shift_del c.239 p.F80fs 1.000 pfam_Uncharacterised_TMEM39 pfam_Uncharacterised_TMEM39 - no_errors TMEM39A HGNC ENSG00000176142 tier1 15 0 0.00 14 7 33.33 TMEM50A 0 genome.wustl.edu 37 1 25667024 25667024 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 25667024 25667024 G - DEL TMEM50A ENST00000374358 human ensembl 74_37 +1 known frame_shift_del c.47 p.E18fs 1.000 pfam_UPF0220 pfam_UPF0220 - no_errors TMEM50A HGNC ENSG00000183726 tier1 127 0 0.00 90 45 33.33 TMEM50A 0 genome.wustl.edu 37 1 25687244 25687244 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 25687244 25687244 T - DEL TMEM50A ENST00000480937 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors TMEM50A HGNC ENSG00000183726 tier1 34 0 0.00 22 10 31.25 TMEM51 0 genome.wustl.edu 37 1 15546112 15546112 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 15546112 15546112 A G SNP TMEM51 ENST00000376008 human ensembl 74_37 +1 known missense c.635 p.H212R 1.000 NULL NULL - no_errors TMEM51 HGNC ENSG00000171729 tier1 - - 25 0 0.00 16 6 27.27 TMEM51 0 genome.wustl.edu 37 1 15545853 15545853 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 15545853 15545853 G T SNP TMEM51 ENST00000376008 human ensembl 74_37 +1 known missense c.376 p.A126S 0.017 NULL NULL - no_errors TMEM51 HGNC ENSG00000171729 45 0 0.00 35 3 7.89 TMEM55A 0 genome.wustl.edu 37 8 92008950 92008950 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 92008950 92008950 G A SNP TMEM55A ENST00000285419 human ensembl 74_37 -1 known missense c.562 p.P188S 1.000 pfam_Transmembrane_protein_55A/B pfam_Transmembrane_protein_55A/B - no_errors TMEM55A HGNC ENSG00000155099 tier1 - - 18 0 0.00 33 13 27.08 TMEM63C 0 genome.wustl.edu 37 14 77685187 77685187 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 77685187 77685187 G - DEL TMEM63C ENST00000298351 human ensembl 74_37 +1 known frame_shift_del c.31 p.G12fs 0.000 NULL pfam_DUF221 - no_errors TMEM63C HGNC ENSG00000165548 tier1 62 0 0.00 29 16 35.56 TMEM70 0 genome.wustl.edu 37 8 74891018 74891018 + Nonsense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 74891018 74891018 C T SNP TMEM70 ENST00000312184 human ensembl 74_37 +1 known nonsense c.238 p.R80* 0.599 NULL pfam_DUF1301_TMEM70 - no_errors TMEM70 HGNC ENSG00000175606 tier1 - - 80 0 0.00 87 34 28.10 TMEM87B 0 genome.wustl.edu 37 2 112824589 112824590 + Frame_Shift_Ins INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 112824589 112824590 0 A INS TMEM87B ENST00000283206 human ensembl 74_37 +1 known frame_shift_ins c.395_396 p.N134fs 1.000:1.000 NULL pfam_TM_rcpt_euk - no_errors TMEM87B HGNC ENSG00000153214 57 0 0.00 54 7 11.48 TMEM8A 0 genome.wustl.edu 37 16 427458 427458 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 427458 427458 C T SNP TMEM8A ENST00000431232 human ensembl 74_37 -1 known missense c.427 p.V143I 0.001 NULL pfam_DUF3522,pfscan_EG-like_dom - no_errors TMEM8A HGNC ENSG00000129925 tier1 - - 51 0 0.00 42 5 10.64 TMIE 0 genome.wustl.edu 37 3 46751073 46751073 + Missense_Mutation SNP T T G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 46751073 46751073 T G SNP TMIE ENST00000326431 human ensembl 74_37 +1 known missense c.366 p.D122E 0.011 NULL NULL - no_errors TMIE HGNC ENSG00000181585 27 0 0.00 17 3 15.00 TMOD1 0 genome.wustl.edu 37 9 100353670 100353670 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 100353670 100353670 G T SNP TMOD1 ENST00000259365 human ensembl 74_37 +1 known missense c.968 p.G323V 1.000 NULL pfam_Tropomodulin - no_errors TMOD1 HGNC ENSG00000136842 tier1 - - 55 0 0.00 59 4 6.35 TMPO 0 genome.wustl.edu 37 12 98921672 98921672 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 98921672 98921672 A - DEL TMPO ENST00000266732 human ensembl 74_37 +1 known frame_shift_del c.288 p.T99fs 1.000 NULL pfam_LAP2alpha,pfam_LEM-like_dom,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom,pfscan_LEM-like_dom - no_errors TMPO HGNC ENSG00000120802 tier1 69 0 0.00 47 32 40.51 TMPO 0 genome.wustl.edu 37 12 98927535 98927535 + Missense_Mutation SNP A A T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 98927535 98927535 A T SNP TMPO ENST00000266732 human ensembl 74_37 +1 known missense c.1500 p.K500N 1.000 pfam_LAP2alpha pfam_LAP2alpha,pfam_LEM-like_dom,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom,pfscan_LEM-like_dom - no_errors TMPO HGNC ENSG00000120802 tier1 - - 27 0 0.00 25 22 46.81 TMPRSS11A 0 genome.wustl.edu 37 4 68810346 68810346 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 68810346 68810346 T - DEL TMPRSS11A ENST00000334830 human ensembl 74_37 -1 known frame_shift_del c.143 p.K48fs 0.055 pfam_SEA_dom,pirsf_Pept_S1A_HAT/DESC1 pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS11A HGNC ENSG00000187054 tier1 75 0 0.00 43 21 32.81 TNC 0 genome.wustl.edu 37 9 117848231 117848231 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 117848231 117848231 G T SNP TNC ENST00000350763 human ensembl 74_37 -1 known silent c.1779 p.S593 0.956 smart_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 tier1 - - 39 0 0.00 26 4 13.33 TNFAIP3 0 genome.wustl.edu 37 6 138202351 138202351 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 138202351 138202351 C - DEL TNFAIP3 ENST00000237289 human ensembl 74_37 +1 known frame_shift_del c.2268 p.K759fs 0.609 pfam_Znf_A20,smart_Znf_A20,pfscan_Znf_A20 pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors TNFAIP3 HGNC ENSG00000118503 tier1 60 0 0.00 34 17 33.33 TNFRSF10A 0 genome.wustl.edu 37 8 23054712 23054712 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 23054712 23054712 C T SNP TNFRSF10A ENST00000221132 human ensembl 74_37 -1 known silent c.1020 p.P340 0.000 pirsf_TNFR_10 pirsf_TNFR_10,pfam_Death_domain,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_10,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF10A HGNC ENSG00000104689 tier1 - - 102 0 0.00 73 18 19.78 TNFRSF14 0 genome.wustl.edu 37 1 2489215 2489215 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 2489215 2489215 G A SNP TNFRSF14 ENST00000355716 human ensembl 74_37 +1 known silent c.120 p.P40 0.000 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_14,prints_Fas_rcpt - no_errors TNFRSF14 HGNC ENSG00000157873 tier1 rs150605790 - 60 0 0.00 34 23 40.35 TNFRSF25 0 genome.wustl.edu 37 1 6522195 6522195 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 6522195 6522195 G T SNP TNFRSF25 ENST00000377782 human ensembl 74_37 -1 known missense c.811 p.L271I 0.025 prints_TNFR_25 pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_25,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF25 HGNC ENSG00000215788 tier1 - - 56 0 0.00 43 4 8.51 TNIK 0 genome.wustl.edu 37 3 170893043 170893045 + In_Frame_Del DEL CTT CTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 170893043 170893045 CTT - DEL TNIK ENST00000436636 human ensembl 74_37 -1 known in_frame_del c.771_769 p.K257in_frame_del 1.000:1.000:1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors TNIK HGNC ENSG00000154310 tier1 18 0 0.00 10 7 41.18 TNK2 0 genome.wustl.edu 37 3 195594633 195594633 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 195594633 195594633 G - DEL TNK2 ENST00000381916 human ensembl 74_37 -1 known frame_shift_del c.2725 p.Q909fs 1.000 pfam_Inhibitor_Mig-6 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors TNK2 HGNC ENSG00000061938 tier1 53 0 0.00 22 27 55.10 TNNC2 0 genome.wustl.edu 37 20 44453471 44453471 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 44453471 44453471 C T SNP TNNC2 ENST00000372555 human ensembl 74_37 -1 known silent c.6 p.T2 0.941 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors TNNC2 HGNC ENSG00000101470 tier1 rs148902583 - 41 0 0.00 19 16 45.71 TNNT2 0 genome.wustl.edu 37 1 201341267 201341267 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 201341267 201341267 G A SNP TNNT2 ENST00000466570 human ensembl 74_37 -1 known rna NULL NULL 0.049 - - - no_errors TNNT2 HGNC ENSG00000118194 tier1 - - 87 0 0.00 86 7 7.37 TNPO2 0 genome.wustl.edu 37 19 12825713 12825713 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 12825713 12825713 G T SNP TNPO2 ENST00000425528 human ensembl 74_37 -1 known missense c.812 p.A271D 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors TNPO2 HGNC ENSG00000105576 tier1 - - 85 0 0.00 67 4 5.63 TNR 0 genome.wustl.edu 37 1 175293628 175293628 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 175293628 175293628 C T SNP TNR ENST00000263525 human ensembl 74_37 -1 known missense c.3821 p.R1274H 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 tier1 - - 88 0 0.00 70 20 22.22 TNRC6A 0 genome.wustl.edu 37 16 24834982 24834982 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 24834982 24834982 G T SNP TNRC6A ENST00000395799 human ensembl 74_37 +1 known missense c.5743 p.G1915C 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 tier1 - - 60 0 0.00 52 4 7.14 TNRC6C 0 genome.wustl.edu 37 17 76047107 76047107 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 76047107 76047107 G - DEL TNRC6C ENST00000335749 human ensembl 74_37 +1 known frame_shift_del c.1964 p.E657fs 1.000 NULL pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 tier1 27 0 0.00 22 13 37.14 TOMM6 0 genome.wustl.edu 37 6 41755470 41755470 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 41755470 41755470 G T SNP TOMM6 ENST00000398881 human ensembl 74_37 +1 novel missense c.35 p.G12V 0.017 NULL NULL - no_errors TOMM6 HGNC ENSG00000214736 tier1 - - 59 0 0.00 61 4 6.15 TOMM7 0 genome.wustl.edu 37 7 22857031 22857032 + Frame_Shift_Del DEL TT TT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 22857031 22857032 TT - DEL TOMM7 ENST00000372879 human ensembl 74_37 -1 putative frame_shift_del c.289_288 p.K96fs 0.100:0.100 NULL pfam_Tom7 - no_errors TOMM7 HGNC ENSG00000196683 tier1 29 0 0.00 16 12 42.86 TONSL 0 genome.wustl.edu 37 8 145668620 145668620 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 145668620 145668620 G T SNP TONSL ENST00000409379 human ensembl 74_37 -1 known missense c.349 p.H117N 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 tier1 - - 92 0 0.00 93 5 5.10 TOP3B 0 genome.wustl.edu 37 22 22319678 22319678 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 22319678 22319678 G A SNP TOP3B ENST00000357179 human ensembl 74_37 -1 known missense c.922 p.R308C 0.979 pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_DNA-bd pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3B HGNC ENSG00000100038 tier1 - - 71 0 0.00 55 22 28.57 TOP3B 0 genome.wustl.edu 37 22 22323023 22323023 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 22323023 22323023 T C SNP TOP3B ENST00000357179 human ensembl 74_37 -1 known missense c.706 p.K236E 1.000 pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_2 pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3B HGNC ENSG00000100038 tier1 - - 88 0 0.00 37 21 36.21 TOPAZ1 0 genome.wustl.edu 37 3 44286737 44286737 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 44286737 44286737 A - DEL TOPAZ1 ENST00000309765 human ensembl 74_37 +1 known frame_shift_del c.2739 p.E916fs 0.009 NULL NULL - no_errors TOPAZ1 HGNC ENSG00000173769 tier1 40 0 0.00 19 12 38.71 TP73 0 genome.wustl.edu 37 1 3599692 3599692 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 3599692 3599692 C T SNP TP73 ENST00000378295 human ensembl 74_37 +1 known missense c.134 p.T45M 0.011 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP73 HGNC ENSG00000078900 tier1 rs148777835 - 69 0 0.00 45 26 36.62 TPCN1 0 genome.wustl.edu 37 12 113706674 113706674 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 113706674 113706674 G A SNP TPCN1 ENST00000541517 human ensembl 74_37 +1 known missense c.872 p.R291Q 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors TPCN1 HGNC ENSG00000186815 tier1 - - 88 0 0.00 60 20 25.00 TPD52 0 genome.wustl.edu 37 8 80963777 80963777 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 80963777 80963777 T - DEL TPD52 ENST00000537855 human ensembl 74_37 -1 known frame_shift_del c.491 p.K164fs 1.000 pfam_TPD52 pfam_TPD52,pfam_Ribosomal_S28_mit,superfamily_NA-bd_OB-fold - no_errors TPD52 HGNC ENSG00000076554 tier1 41 0 0.00 50 10 16.67 TPK1 0 genome.wustl.edu 37 7 144364906 144364906 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 144364906 144364906 G T SNP TPK1 ENST00000482940 human ensembl 74_37 -1 known missense c.141 p.S47R 0.000 NULL NULL - no_errors TPK1 HGNC ENSG00000196511 tier1 - - 80 0 0.00 76 4 5.00 TPM4 0 genome.wustl.edu 37 19 16212344 16212344 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 16212344 16212344 T - DEL TPM4 ENST00000591645 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors TPM4 HGNC ENSG00000167460 tier1 43 0 0.00 46 10 17.86 TPMT 0 genome.wustl.edu 37 6 18139903 18139903 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 18139903 18139903 G T SNP TPMT ENST00000309983 human ensembl 74_37 -1 known missense c.412 p.L138I 0.999 pfam_TPMT,pirsf_Thiopurine_S-MeTrfase pfam_TPMT,pirsf_Thiopurine_S-MeTrfase - no_errors TPMT HGNC ENSG00000137364 69 0 0.00 38 2 5.00 TPP1 0 genome.wustl.edu 37 11 6638871 6638871 + Nonsense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 6638871 6638871 G T SNP TPP1 ENST00000299427 human ensembl 74_37 -1 known nonsense c.366 p.C122* 0.997 pfam_Peptidase_S53_propep,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep pfam_Peptidase_S53_propep,pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep - no_errors TPP1 HGNC ENSG00000166340 tier1 - - 43 0 0.00 48 4 7.69 TPRN 0 genome.wustl.edu 37 9 140087025 140087027 + In_Frame_Del DEL TCC TCC - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 140087025 140087027 TCC - DEL TPRN ENST00000409012 human ensembl 74_37 -1 known in_frame_del c.1844_1842 p.E618in_frame_del 0.745:0.829:0.911 NULL NULL - no_errors TPRN HGNC ENSG00000176058 tier1 46 0 0.00 27 7 20.59 TPRX2P 0 genome.wustl.edu 37 19 48364080 48364080 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 48364080 48364080 G A SNP TPRX2P ENST00000535362 human ensembl 74_37 +1 known missense c.292 p.A98T 0.194 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TPRX2P HGNC ENSG00000259009 tier1 - - 63 0 0.00 25 19 43.18 TPSAB1 0 genome.wustl.edu 37 16 1291473 1291473 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 1291473 1291473 G A SNP TPSAB1 ENST00000338844 human ensembl 74_37 +1 known missense c.272 p.R91Q 0.005 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TPSAB1 HGNC ENSG00000172236 tier1 - - 48 0 0.00 27 15 35.71 TRAF2 0 genome.wustl.edu 37 9 139820270 139820270 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 139820270 139820270 G A SNP TRAF2 ENST00000359662 human ensembl 74_37 +1 known missense c.1579 p.V527I 0.943 pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF2 HGNC ENSG00000127191 tier1 rs148765924 - 45 0 0.00 25 11 30.56 TRAF5 0 genome.wustl.edu 37 1 211545734 211545734 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 211545734 211545734 G - DEL TRAF5 ENST00000261464 human ensembl 74_37 +1 known frame_shift_del c.1364 p.S457fs 1.000 pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH pfam_MATH,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF5 HGNC ENSG00000082512 tier1 83 0 0.00 71 27 27.55 TRAK1 0 genome.wustl.edu 37 3 42264488 42264488 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 42264488 42264488 G A SNP TRAK1 ENST00000396175 human ensembl 74_37 +1 known silent c.1947 p.T649 0.046 NULL pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 tier1 - - 48 0 0.00 16 16 50.00 TRAM1L1 0 genome.wustl.edu 37 4 118005607 118005607 + Missense_Mutation SNP A A C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 118005607 118005607 A C SNP TRAM1L1 ENST00000310754 human ensembl 74_37 -1 known missense c.943 p.L315V 0.297 pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1L1 HGNC ENSG00000174599 tier1 - - 81 0 0.00 56 35 38.46 TRAPPC8 0 genome.wustl.edu 37 18 29453418 29453418 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 29453418 29453418 A - DEL TRAPPC8 ENST00000283351 human ensembl 74_37 -1 known frame_shift_del c.2037 p.F679fs 1.000 NULL NULL - no_errors TRAPPC8 HGNC ENSG00000153339 tier1 29 0 0.00 20 15 42.86 TRAPPC9 0 genome.wustl.edu 37 8 141231604 141231604 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 141231604 141231604 A G SNP TRAPPC9 ENST00000389328 human ensembl 74_37 -1 known missense c.2804 p.V935A 0.000 pfam_TRAPP_II_complex_Trs120 pfam_TRAPP_II_complex_Trs120 - no_errors TRAPPC9 HGNC ENSG00000167632 tier1 - - 82 0 0.00 91 41 30.60 TRAPPC9 0 genome.wustl.edu 37 8 141468445 141468445 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 141468445 141468445 G T SNP TRAPPC9 ENST00000389328 human ensembl 74_37 -1 known silent c.219 p.S73 0.000 NULL pfam_TRAPP_II_complex_Trs120 - no_errors TRAPPC9 HGNC ENSG00000167632 tier1 - - 88 0 0.00 91 26 22.22 TRDN 0 genome.wustl.edu 37 6 123703273 123703273 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 123703273 123703273 T - DEL TRDN ENST00000398178 human ensembl 74_37 -1 known frame_shift_del c.1155 p.K385fs 0.199 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 tier1 12 0 0.00 9 6 40.00 TRDN 0 genome.wustl.edu 37 6 123786033 123786033 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 123786033 123786033 A - DEL TRDN ENST00000546248 human ensembl 74_37 -1 known frame_shift_del c.889 p.S297fs 0.000 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 tier1 29 0 0.00 14 11 44.00 TRERF1 0 genome.wustl.edu 37 6 42237239 42237239 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 42237239 42237239 G A SNP TRERF1 ENST00000541110 human ensembl 74_37 -1 known silent c.90 p.S30 0.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 tier1 rs149014572 - 107 0 0.00 48 24 33.33 TRHDE-AS1 0 genome.wustl.edu 37 12 72665950 72665950 + RNA DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 72665950 72665950 G - DEL TRHDE-AS1 ENST00000435350 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors TRHDE-AS1 HGNC ENSG00000236333 tier1 103 0 0.00 79 22 21.78 TRIM27 0 genome.wustl.edu 37 6 28889703 28889703 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 28889703 28889703 C T SNP TRIM27 ENST00000377199 human ensembl 74_37 -1 known missense c.482 p.R161Q 0.999 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM27 HGNC ENSG00000204713 tier1 rs149594206 - 59 0 0.00 10 37 78.72 TRIM32 0 genome.wustl.edu 37 9 119461051 119461051 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 119461051 119461051 C T SNP TRIM32 ENST00000373983 human ensembl 74_37 +1 known missense c.1030 p.R344W 1.000 NULL pfam_NHL_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM32 HGNC ENSG00000119401 tier1 - - 12 0 0.00 10 9 47.37 TRIM41 0 genome.wustl.edu 37 5 180662356 180662356 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 180662356 180662356 C T SNP TRIM41 ENST00000351937 human ensembl 74_37 +1 known missense c.1534 p.R512W 0.997 pfscan_B30.2/SPRY pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_DUF3631,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM41 HGNC ENSG00000146063 tier1 - - 56 0 0.00 36 16 30.77 TRIM43 0 genome.wustl.edu 37 2 96262096 96262096 + Silent SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 96262096 96262096 A G SNP TRIM43 ENST00000272395 human ensembl 74_37 +1 known silent c.654 p.K218 0.030 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM43 HGNC ENSG00000144015 tier1 - - 149 0 0.00 86 35 28.93 TRIM45 0 genome.wustl.edu 37 1 117661014 117661014 + Silent SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 117661014 117661014 A G SNP TRIM45 ENST00000256649 human ensembl 74_37 -1 known silent c.864 p.I288 0.643 smart_Bbox_C pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM45 HGNC ENSG00000134253 tier1 - - 56 0 0.00 18 12 40.00 TRIM46 0 genome.wustl.edu 37 1 155150676 155150676 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 155150676 155150676 C T SNP TRIM46 ENST00000334634 human ensembl 74_37 +1 known missense c.1108 p.L370F 0.994 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM46 HGNC ENSG00000163462 tier1 - - 56 0 0.00 44 20 31.25 TRIM51 0 genome.wustl.edu 37 11 55653610 55653610 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 55653610 55653610 A - DEL TRIM51 ENST00000449290 human ensembl 74_37 +1 known frame_shift_del c.423 p.M144fs 0.001 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 tier1 200 0 0.00 145 89 38.03 TRIM52 0 genome.wustl.edu 37 5 180687593 180687593 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 180687593 180687593 G T SNP TRIM52 ENST00000327767 human ensembl 74_37 -1 known silent c.222 p.A74 0.337 smart_Znf_RING pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM52 HGNC ENSG00000183718 73 0 0.00 68 4 5.56 TRIM65 0 genome.wustl.edu 37 17 73886925 73886925 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 73886925 73886925 G T SNP TRIM65 ENST00000269383 human ensembl 74_37 -1 known missense c.1489 p.L497M 0.335 superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM65 HGNC ENSG00000141569 81 0 0.00 69 4 5.48 TRIM67 0 genome.wustl.edu 37 1 231299574 231299574 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 231299574 231299574 G A SNP TRIM67 ENST00000366652 human ensembl 74_37 +1 known missense c.859 p.A287T 0.001 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM67 HGNC ENSG00000119283 tier1 - - 10 0 0.00 4 4 50.00 TRIM8 0 genome.wustl.edu 37 10 104414960 104414960 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 104414960 104414960 G A SNP TRIM8 ENST00000302424 human ensembl 74_37 +1 known missense c.790 p.E264K 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors TRIM8 HGNC ENSG00000171206 tier1 - - 67 0 0.00 29 12 29.27 TRIO 0 genome.wustl.edu 37 5 14419946 14419946 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 14419946 14419946 C T SNP TRIO ENST00000344204 human ensembl 74_37 +1 known silent c.5019 p.N1673 0.041 pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 tier1 - - 38 0 0.00 24 40 62.50 TRIOBP 0 genome.wustl.edu 37 22 38130773 38130773 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 38130773 38130773 G - DEL TRIOBP ENST00000406386 human ensembl 74_37 +1 known frame_shift_del c.4430 p.G1479fs 0.003 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 tier1 48 0 0.00 21 16 43.24 TRIP10 0 genome.wustl.edu 37 19 6743770 6743770 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 6743770 6743770 G A SNP TRIP10 ENST00000313244 human ensembl 74_37 +1 known missense c.565 p.E189K 1.000 NULL pfam_FCH_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors TRIP10 HGNC ENSG00000125733 tier1 - - 35 0 0.00 15 11 42.31 TRIP10 0 genome.wustl.edu 37 19 6750380 6750380 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 6750380 6750380 C - DEL TRIP10 ENST00000313244 human ensembl 74_37 +1 known frame_shift_del c.1473 p.A494fs 0.994 NULL pfam_FCH_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors TRIP10 HGNC ENSG00000125733 tier1 69 0 0.00 38 17 30.91 TRIP12 0 genome.wustl.edu 37 2 230668381 230668381 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 230668381 230668381 G A SNP TRIP12 ENST00000283943 human ensembl 74_37 -1 known silent c.2679 p.S893 1.000 superfamily_ARM-type_fold pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 tier1 - - 50 0 0.00 61 4 6.15 TRIP12 0 genome.wustl.edu 37 2 230672543 230672544 + Frame_Shift_Ins INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 230672543 230672544 - A INS TRIP12 ENST00000283943 human ensembl 74_37 -1 known frame_shift_ins c.2233_2232 p.A744fs 1.000:1.000 superfamily_ARM-type_fold pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 tier1 65 0 0.00 39 22 36.07 TRIP12 0 genome.wustl.edu 37 2 230636243 230636243 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 230636243 230636243 G T SNP TRIP12 ENST00000283943 human ensembl 74_37 -1 known missense c.5575 p.P1859T 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 26 0 0.00 49 4 7.55 TRMT61B 0 genome.wustl.edu 37 2 29087951 29087951 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 29087951 29087951 T C SNP TRMT61B ENST00000306108 human ensembl 74_37 -1 known missense c.734 p.N245S 0.305 pfam_tRNA_MeTrfase_GCD14,pfam_PCMT pfam_tRNA_MeTrfase_GCD14,pfam_PCMT - no_errors TRMT61B HGNC ENSG00000171103 tier1 - - 36 0 0.00 29 22 43.14 TROVE2 0 genome.wustl.edu 37 1 193053997 193053998 + RNA DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 193053997 193053998 AA - DEL TROVE2 ENST00000460715 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.002 - - - no_errors TROVE2 HGNC ENSG00000116747 tier1 28 0 0.00 32 12 27.27 TRPA1 0 genome.wustl.edu 37 8 72966004 72966004 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 72966004 72966004 C T SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.1628 p.R543H 0.072 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 tier1 - - 88 0 0.00 77 49 38.89 TRPC3 0 genome.wustl.edu 37 4 122854106 122854106 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 122854106 122854106 T C SNP TRPC3 ENST00000379645 human ensembl 74_37 -1 known missense c.307 p.N103D 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 tier1 - - 40 0 0.00 21 11 34.38 TRPM6 0 genome.wustl.edu 37 9 77353400 77353400 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 77353400 77353400 A G SNP TRPM6 ENST00000451710 human ensembl 74_37 -1 known missense c.5711 p.L1904P 1.000 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 tier1 - - 72 0 0.00 49 32 39.51 TRPS1 0 genome.wustl.edu 37 8 116599766 116599766 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 116599766 116599766 A G SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.2162 p.L721P 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 tier1 - - 41 0 0.00 54 21 28.00 TSC1 0 genome.wustl.edu 37 9 135779102 135779102 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 135779102 135779102 C T SNP TSC1 ENST00000298552 human ensembl 74_37 -1 known missense c.2144 p.R715Q 1.000 pfam_Hamartin pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC ENSG00000165699 tier1 - - 47 0 0.00 23 12 34.29 TSC2 0 genome.wustl.edu 37 16 2126499 2126499 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 2126499 2126499 G A SNP TSC2 ENST00000219476 human ensembl 74_37 +1 known missense c.2750 p.R917Q 1.000 NULL pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 tier1 - - 40 0 0.00 9 19 67.86 TSEN54 0 genome.wustl.edu 37 17 73518162 73518162 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 73518162 73518162 G A SNP TSEN54 ENST00000333213 human ensembl 74_37 +1 known missense c.1000 p.A334T 0.049 NULL NULL - no_errors TSEN54 HGNC ENSG00000182173 tier1 - - 22 0 0.00 19 14 42.42 TSHZ3 0 genome.wustl.edu 37 19 31769235 31769235 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 31769235 31769235 T - DEL TSHZ3 ENST00000240587 human ensembl 74_37 -1 known frame_shift_del c.1464 p.D489fs 0.971 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 tier1 66 0 0.00 33 8 19.51 TSPAN10 0 genome.wustl.edu 37 17 79612316 79612317 + Frame_Shift_Ins INS - - G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 79612316 79612317 - G INS TSPAN10 ENST00000328585 human ensembl 74_37 +1 known frame_shift_ins c.335_336 p.P115fs 0.000:0.002 pfam_Tetraspanin/Peripherin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN10 HGNC ENSG00000182612 tier1 81 0 0.00 34 22 39.29 TSPAN10 0 genome.wustl.edu 37 17 79612420 79612420 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 79612420 79612420 A G SNP TSPAN10 ENST00000328585 human ensembl 74_37 +1 known missense c.439 p.T147A 0.001 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN10 HGNC ENSG00000182612 tier1 - - 173 0 0.00 59 63 51.64 TSPAN14 0 genome.wustl.edu 37 10 82279271 82279271 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 82279271 82279271 T - DEL TSPAN14 ENST00000265450 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TSPAN14 HGNC ENSG00000108219 tier1 101 0 0.00 91 31 25.41 TSPEAR 0 genome.wustl.edu 37 21 46131375 46131375 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 46131375 46131375 C T SNP TSPEAR ENST00000323084 human ensembl 74_37 -1 known missense c.55 p.G19S 0.000 NULL pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 tier1 - - 66 0 0.00 33 18 35.29 TSPYL1 0 genome.wustl.edu 37 6 116600626 116600626 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 116600626 116600626 T C SNP TSPYL1 ENST00000368608 human ensembl 74_37 -1 known missense c.368 p.K123R 0.000 NULL pfam_NAP_family - no_errors TSPYL1 HGNC ENSG00000189241 tier1 - - 87 0 0.00 43 40 48.19 TSPYL5 0 genome.wustl.edu 37 8 98289596 98289596 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 98289596 98289596 C - DEL TSPYL5 ENST00000322128 human ensembl 74_37 -1 known frame_shift_del c.477 p.P160fs 0.000 NULL pfam_NAP_family - no_errors TSPYL5 HGNC ENSG00000180543 tier1 42 0 0.00 36 15 29.41 TSPYL6 0 genome.wustl.edu 37 2 54482768 54482768 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 54482768 54482768 G A SNP TSPYL6 ENST00000317802 human ensembl 74_37 -1 known missense c.521 p.A174V 0.000 NULL pfam_NAP_family - no_errors TSPYL6 HGNC ENSG00000178021 13 0 0.00 8 3 27.27 TSSK2 0 genome.wustl.edu 37 22 19119732 19119732 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 19119732 19119732 C - DEL TSSK2 ENST00000399635 human ensembl 74_37 +1 known frame_shift_del c.820 p.K276fs 0.998 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TSSK2 HGNC ENSG00000206203 tier1 45 0 0.00 15 6 28.57 TTBK1 0 genome.wustl.edu 37 6 43227441 43227441 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 43227441 43227441 G T SNP TTBK1 ENST00000259750 human ensembl 74_37 +1 known missense c.1421 p.R474M 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTBK1 HGNC ENSG00000146216 tier1 - - 81 0 0.00 61 4 6.15 TTC22 0 genome.wustl.edu 37 1 55252654 55252654 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 55252654 55252654 G A SNP TTC22 ENST00000371276 human ensembl 74_37 -1 known silent c.834 p.T278 0.079 NULL smart_TPR_repeat - no_errors TTC22 HGNC ENSG00000006555 tier1 - - 65 0 0.00 31 34 52.31 TTC24 0 genome.wustl.edu 37 1 156552852 156552852 + Nonsense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 156552852 156552852 G A SNP TTC24 ENST00000368236 human ensembl 74_37 +1 known nonsense c.929 p.W310* 0.988 pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC24 HGNC ENSG00000187862 tier1 - - 73 0 0.00 49 28 36.36 TTC3 0 genome.wustl.edu 37 21 38512963 38512963 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 38512963 38512963 A - DEL TTC3 ENST00000354749 human ensembl 74_37 +1 known frame_shift_del c.1762 p.N590fs 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 tier1 49 0 0.00 54 24 30.77 TTC39A 0 genome.wustl.edu 37 1 51761818 51761818 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 51761818 51761818 C T SNP TTC39A ENST00000447632 human ensembl 74_37 -1 known missense c.1186 p.A396T 0.986 pfam_OMP_IML2_mit/TPR_39 pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39A HGNC ENSG00000085831 tier1 - - 113 0 0.00 64 42 39.62 TTC40 0 genome.wustl.edu 37 10 134628225 134628225 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 134628225 134628225 G - DEL TTC40 ENST00000263170 human ensembl 74_37 -1 known frame_shift_del c.1697 p.P566fs 0.001 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 tier1 75 0 0.00 34 20 37.04 TTC40 0 genome.wustl.edu 37 10 134648892 134648892 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 134648892 134648892 G T SNP TTC40 ENST00000263170 human ensembl 74_37 -1 known silent c.1143 p.S381 0.000 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 tier1 - - 33 0 0.00 22 4 15.38 TTC40 0 genome.wustl.edu 37 10 134664663 134664663 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 134664663 134664663 C T SNP TTC40 ENST00000263170 human ensembl 74_37 -1 known silent c.204 p.A68 0.000 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 tier1 rs140935676 - 50 0 0.00 20 18 47.37 TTC7B 0 genome.wustl.edu 37 14 91007520 91007520 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 91007520 91007520 A - DEL TTC7B ENST00000554654 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TTC7B HGNC ENSG00000165914 tier1 29 0 0.00 11 4 26.67 TTI1 0 genome.wustl.edu 37 20 36627649 36627649 + Missense_Mutation SNP G G C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 36627649 36627649 G C SNP TTI1 ENST00000373447 human ensembl 74_37 -1 known missense c.2734 p.P912A 1.000 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 tier1 - - 49 0 0.00 18 14 43.75 TTK 0 genome.wustl.edu 37 6 80721484 80721484 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 80721484 80721484 G A SNP TTK ENST00000369798 human ensembl 74_37 +1 known missense c.767 p.R256Q 0.116 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTK HGNC ENSG00000112742 tier1 - - 47 0 0.00 34 17 32.08 TTK 0 genome.wustl.edu 37 6 80751897 80751897 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 80751897 80751897 A - DEL TTK ENST00000369798 human ensembl 74_37 +1 known frame_shift_del c.2552 p.R854fs 0.102 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTK HGNC ENSG00000112742 tier1 47 0 0.00 40 21 34.43 TTK 0 genome.wustl.edu 37 6 80751905 80751905 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 80751905 80751905 A G SNP TTK ENST00000369798 human ensembl 74_37 +1 known missense c.2560 p.R854G 0.014 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTK HGNC ENSG00000112742 46 0 0.00 56 3 5.08 TTLL13 0 genome.wustl.edu 37 15 90802159 90802159 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 90802159 90802159 G T SNP TTLL13 ENST00000438251 human ensembl 74_37 +1 known missense c.1352 p.R451M 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL13 HGNC ENSG00000213471 tier1 - - 94 0 0.00 30 29 49.15 TTN 0 genome.wustl.edu 37 2 179395339 179395339 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 179395339 179395339 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.98299 p.H32767N 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 42 0 0.00 54 5 8.47 TTN 0 genome.wustl.edu 37 2 179498701 179498701 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 179498701 179498701 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.34821 p.F11607L 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 44 0 0.00 52 5 8.77 TTN 0 genome.wustl.edu 37 2 179584325 179584325 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 179584325 179584325 T - DEL TTN ENST00000342992 human ensembl 74_37 -1 known frame_shift_del c.20162 p.N6721fs 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 35 0 0.00 20 10 33.33 TTN 0 genome.wustl.edu 37 2 179631242 179631242 + Missense_Mutation SNP A A T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 179631242 179631242 A T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.9569 p.V3190D 0.990 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 88 0 0.00 33 19 36.54 TTN 0 genome.wustl.edu 37 2 179643760 179643760 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 179643760 179643760 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.4049 p.R1350H 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 23 0 0.00 12 6 33.33 TTN 0 genome.wustl.edu 37 2 179643779 179643779 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 179643779 179643779 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.4030 p.D1344Y 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 19 0 0.00 12 7 36.84 TTN 0 genome.wustl.edu 37 2 179613430 179613430 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 179613430 179613430 G T SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.13697 p.A4566D 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 33 0 0.00 34 2 5.56 TUBA4B 0 genome.wustl.edu 37 2 220118077 220118078 + RNA DEL GG GG - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 220118077 220118078 GG - DEL TUBA4B ENST00000473885 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors TUBA4B HGNC ENSG00000243910 tier1 8 0 0.00 4 4 50.00 TUBG2 0 genome.wustl.edu 37 17 40818799 40818799 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 40818799 40818799 G T SNP TUBG2 ENST00000251412 human ensembl 74_37 +1 known missense c.1337 p.W446L 1.000 NULL pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin - no_errors TUBG2 HGNC ENSG00000037042 tier1 - - 70 0 0.00 45 4 8.16 TUBGCP2 0 genome.wustl.edu 37 10 135107236 135107236 + Silent SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 135107236 135107236 C A SNP TUBGCP2 ENST00000543663 human ensembl 74_37 -1 known silent c.738 p.V246 1.000 pfam_TUBGCP pfam_TUBGCP,superfamily_Ocr - no_errors TUBGCP2 HGNC ENSG00000130640 tier1 - - 108 0 0.00 38 25 39.68 TUBGCP2 0 genome.wustl.edu 37 10 135116332 135116332 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 135116332 135116332 C T SNP TUBGCP2 ENST00000543663 human ensembl 74_37 -1 known silent c.114 p.P38 0.723 NULL pfam_TUBGCP,superfamily_Ocr - no_errors TUBGCP2 HGNC ENSG00000130640 tier1 - - 25 0 0.00 23 6 20.69 TVP23B 0 genome.wustl.edu 37 17 18707518 18707518 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 18707518 18707518 G A SNP TVP23B ENST00000307767 human ensembl 74_37 +1 known missense c.530 p.R177H 1.000 NULL pfam_DUF846_euk - no_errors TVP23B HGNC ENSG00000171928 tier1 - - 101 0 0.00 43 45 51.14 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 15441469 15441469 C T SNP TVP23C ENST00000523573 human ensembl 74_37 -1 known splice_site c.162-2 e5-2 0.998 - - - no_errors TVP23C HGNC ENSG00000175106 tier1 - - 77 0 0.00 84 32 27.35 TWISTNB 0 genome.wustl.edu 37 7 19739713 19739713 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 19739713 19739713 C - DEL TWISTNB ENST00000222567 human ensembl 74_37 -1 known frame_shift_del c.587 p.G196fs 1.000 NULL pfam_RNA_pol_Rpb7_N - no_errors TWISTNB HGNC ENSG00000105849 tier1 46 0 0.00 42 24 36.36 TXK 0 genome.wustl.edu 37 4 48088568 48088568 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 48088568 48088568 G T SNP TXK ENST00000264316 human ensembl 74_37 -1 known silent c.871 p.R291 0.997 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors TXK HGNC ENSG00000074966 tier1 - - 78 0 0.00 63 6 8.70 TXNL1 0 genome.wustl.edu 37 18 54278226 54278226 + Nonsense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 54278226 54278226 G A SNP TXNL1 ENST00000217515 human ensembl 74_37 -1 known nonsense c.838 p.R280* 1.000 NULL pfam_PITH_dom,pfam_Thioredoxin_domain,superfamily_Galactose-bd-like,superfamily_Thioredoxin-like_fold - no_errors TXNL1 HGNC ENSG00000091164 tier1 - - 32 0 0.00 20 13 39.39 TXNRD2 0 genome.wustl.edu 37 22 19882493 19882496 + RNA DEL AAAA AAAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 19882493 19882496 AAAA - DEL TXNRD2 ENST00000491939 human ensembl 74_37 -1 known rna NULL NULL 0.027:0.029:0.029:0.026 - - - no_errors TXNRD2 HGNC ENSG00000184470 tier1 19 0 0.00 13 5 27.78 TYK2 0 genome.wustl.edu 37 19 10468442 10468442 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 10468442 10468442 C T SNP TYK2 ENST00000264818 human ensembl 74_37 -1 known missense c.2464 p.E822K 0.998 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC ENSG00000105397 tier1 - - 66 0 0.00 34 25 42.37 TYRO3 0 genome.wustl.edu 37 15 41859622 41859622 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 41859622 41859622 G T SNP TYRO3 ENST00000263798 human ensembl 74_37 +1 known missense c.848 p.C283F 0.990 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TYRO3 HGNC ENSG00000092445 tier1 - - 68 0 0.00 68 4 5.56 U2AF1 0 genome.wustl.edu 37 21 44515596 44515596 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 44515596 44515596 G A SNP U2AF1 ENST00000291552 human ensembl 74_37 -1 known silent c.300 p.N100 0.993 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_U2_small - no_errors U2AF1 HGNC ENSG00000160201 tier1 - - 53 0 0.00 27 20 42.55 UACA 0 genome.wustl.edu 37 15 70991908 70991908 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 70991908 70991908 T - DEL UACA ENST00000322954 human ensembl 74_37 -1 known frame_shift_del c.170 p.K57fs 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 tier1 105 0 0.00 62 29 31.87 UACA 0 genome.wustl.edu 37 15 70991908 70991908 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 70991908 70991908 T C SNP UACA ENST00000322954 human ensembl 74_37 -1 known missense c.170 p.K57R 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 105 0 0.00 56 6 6.59 UBA6 0 genome.wustl.edu 37 4 68566794 68566794 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 68566794 68566794 G A SNP UBA6 ENST00000322244 human ensembl 74_37 -1 known missense c.44 p.A15V 0.864 NULL pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA6 HGNC ENSG00000033178 tier1 - - 73 0 0.00 35 23 39.66 UBAP2L 0 genome.wustl.edu 37 1 154227293 154227294 + RNA DEL TT TT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 154227293 154227294 TT - DEL UBAP2L ENST00000495676 human ensembl 74_37 +1 known rna NULL NULL 0.026:0.101 - - - no_errors UBAP2L HGNC ENSG00000143569 tier1 96 0 0.00 68 21 23.60 UBAP2L 0 genome.wustl.edu 37 1 154233427 154233427 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 154233427 154233427 G T SNP UBAP2L ENST00000361546 human ensembl 74_37 +1 known missense c.2638 p.A880S 1.000 NULL pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2L HGNC ENSG00000143569 43 0 0.00 52 3 5.45 UBASH3B 0 genome.wustl.edu 37 11 122678802 122678802 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 122678802 122678802 C T SNP UBASH3B ENST00000284273 human ensembl 74_37 +1 known missense c.1730 p.A577V 1.000 pfam_His_Pase_superF_clade-1 pfam_His_Pase_superF_clade-1,pfam_SH3_domain,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_SH3_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,smart_UBA/transl_elong_EF1B_N_euk,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBASH3B HGNC ENSG00000154127 tier1 - - 65 0 0.00 31 27 46.55 UBE2C 0 genome.wustl.edu 37 20 44443031 44443031 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 44443031 44443031 C T SNP UBE2C ENST00000356455 human ensembl 74_37 +1 known silent c.138 p.G46 0.977 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2C HGNC ENSG00000175063 tier1 - - 74 0 0.00 26 25 49.02 UBE2E1 0 genome.wustl.edu 37 3 23932118 23932118 + RNA SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 23932118 23932118 A G SNP UBE2E1 ENST00000475680 human ensembl 74_37 +1 known rna NULL NULL 0.083 - - - no_errors UBE2E1 HGNC ENSG00000170142 tier1 - - 64 0 0.00 38 28 42.42 UBE2M 0 genome.wustl.edu 37 19 59067561 59067561 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 59067561 59067561 G A SNP UBE2M ENST00000253023 human ensembl 74_37 -1 known silent c.447 p.A149 0.819 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2M HGNC ENSG00000130725 tier1 - - 89 0 0.00 42 26 38.24 UBE2QL1 0 genome.wustl.edu 37 5 6449100 6449100 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 6449100 6449100 C T SNP UBE2QL1 ENST00000399816 human ensembl 74_37 +1 known missense c.94 p.H32Y 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2QL1 HGNC ENSG00000215218 tier1 - - 32 0 0.00 41 9 18.00 UBE2V1 0 genome.wustl.edu 37 20 48697884 48697885 + RNA DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 48697884 48697885 AA - DEL UBE2V1 ENST00000396059 human ensembl 74_37 -1 known rna NULL NULL 0.185:0.007 - - - no_errors UBE2V1 HGNC ENSG00000244687 tier1 50 0 0.00 24 14 36.84 UBR5 0 genome.wustl.edu 37 8 103277382 103277382 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 103277382 103277382 G T SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known missense c.7547 p.P2516Q 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 tier1 - - 38 0 0.00 61 4 6.06 UBR5 0 genome.wustl.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 103289349 103289349 T - DEL UBR5 ENST00000520539 human ensembl 74_37 -1 known frame_shift_del c.6360 p.E2121fs 0.987 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 tier1 141 0 0.00 186 43 18.78 UBR5 0 genome.wustl.edu 37 8 103297931 103297931 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 103297931 103297931 G A SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known missense c.5294 p.A1765V 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 19 0 0.00 28 2 6.67 UBXN4 0 genome.wustl.edu 37 2 136528170 136528170 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 136528170 136528170 A - DEL UBXN4 ENST00000272638 human ensembl 74_37 +1 known frame_shift_del c.687 p.T231fs 0.997 NULL pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX - no_errors UBXN4 HGNC ENSG00000144224 tier1 26 0 0.00 24 13 35.14 UBXN6 0 genome.wustl.edu 37 19 4446060 4446060 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 4446060 4446060 T C SNP UBXN6 ENST00000301281 human ensembl 74_37 -1 known missense c.1186 p.N396D 0.978 pfam_UBX,smart_UBX,pfscan_UBX pfam_PUB_domain,pfam_UBX,smart_PUG-dom,smart_UBX,pfscan_UBX - no_errors UBXN6 HGNC ENSG00000167671 18 0 0.00 18 3 14.29 UBXN7 0 genome.wustl.edu 37 3 196089199 196089199 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 196089199 196089199 T - DEL UBXN7 ENST00000296328 human ensembl 74_37 -1 known frame_shift_del c.1194 p.A399fs 0.815 pirsf_UCP037991_UAS/UBX pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pirsf_UCP037991_UAS/UBX,pfscan_UBX - no_errors UBXN7 HGNC ENSG00000163960 tier1 77 0 0.00 37 22 37.29 UCK2 0 genome.wustl.edu 37 1 165877195 165877195 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 165877195 165877195 T - DEL UCK2 ENST00000462329 human ensembl 74_37 +1 known rna NULL NULL 0.021 - - - no_errors UCK2 HGNC ENSG00000143179 tier1 31 0 0.00 40 13 24.53 UCP3 0 genome.wustl.edu 37 11 73712474 73712474 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 73712474 73712474 G A SNP UCP3 ENST00000314032 human ensembl 74_37 -1 known missense c.922 p.R308W 0.245 prints_Mit_uncoupling pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling,prints_Mit_carrier - no_errors UCP3 HGNC ENSG00000175564 tier1 - - 112 0 0.00 61 39 39.00 UEVLD 0 genome.wustl.edu 37 11 18566189 18566189 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 18566189 18566189 G A SNP UEVLD ENST00000396197 human ensembl 74_37 -1 known silent c.1041 p.G347 0.964 pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,prints_L-lactate/malate_DH pfam_UEV_N,pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Lactate_DH/Glyco_Ohase_4_C,prints_L-lactate/malate_DH - no_errors UEVLD HGNC ENSG00000151116 tier1 - - 30 0 0.00 17 14 45.16 UHRF1 0 genome.wustl.edu 37 19 4910891 4910891 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 4910891 4910891 C T SNP UHRF1 ENST00000262952 human ensembl 74_37 +1 known rna NULL NULL 0.969 - - - no_errors UHRF1 HGNC ENSG00000034063 tier1 - - 39 0 0.00 24 17 41.46 UHRF1 0 genome.wustl.edu 37 19 4944160 4944160 + RNA SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 4944160 4944160 C A SNP UHRF1 ENST00000262952 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors UHRF1 HGNC ENSG00000034063 tier1 - - 98 0 0.00 51 23 31.08 ULK1 0 genome.wustl.edu 37 12 132400471 132400471 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 132400471 132400471 G T SNP ULK1 ENST00000321867 human ensembl 74_37 +1 known missense c.1645 p.G549W 0.993 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 50 0 0.00 39 3 7.14 UMOD 0 genome.wustl.edu 37 16 20360037 20360037 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 20360037 20360037 C T SNP UMOD ENST00000424589 human ensembl 74_37 -1 known missense c.685 p.D229N 0.998 NULL pfam_ZP_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors UMOD HGNC ENSG00000169344 tier1 - - 12 0 0.00 6 5 45.45 UMODL1 0 genome.wustl.edu 37 21 43547905 43547905 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 43547905 43547905 C T SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known silent c.4038 p.R1346 0.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 tier1 - - 107 0 0.00 54 32 37.21 UNC13B 0 genome.wustl.edu 37 9 35396556 35396556 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 35396556 35396556 C T SNP UNC13B ENST00000378496 human ensembl 74_37 +1 known missense c.3145 p.R1049W 0.483 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 tier1 rs151027172 - 42 0 0.00 23 17 42.50 UNC13C 0 genome.wustl.edu 37 15 54685306 54685306 + Missense_Mutation SNP T T G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 54685306 54685306 T G SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.4774 p.W1592G 1.000 pfam_Ca-dep_secretion_activator pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 tier1 - - 80 0 0.00 51 30 37.04 UNC45A 0 genome.wustl.edu 37 15 91485759 91485759 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 91485759 91485759 G A SNP UNC45A ENST00000418476 human ensembl 74_37 +1 known silent c.780 p.L260 1.000 superfamily_ARM-type_fold pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45A HGNC ENSG00000140553 tier1 - - 63 0 0.00 36 16 30.77 UNC5C 0 genome.wustl.edu 37 4 96140293 96140294 + Frame_Shift_Ins INS - - G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 96140293 96140294 - G INS UNC5C ENST00000453304 human ensembl 74_37 -1 known frame_shift_ins c.1472_1471 p.Q491fs 0.999:0.999 NULL pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5C HGNC ENSG00000182168 tier1 50 0 0.00 20 14 41.18 UNC79 0 genome.wustl.edu 37 14 94088050 94088050 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 94088050 94088050 A - DEL UNC79 ENST00000553484 human ensembl 74_37 +1 known frame_shift_del c.4537 p.K1515fs 1.000 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 tier1 49 0 0.00 24 10 29.41 UPF3A 0 genome.wustl.edu 37 13 115057211 115057211 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 115057211 115057211 A - DEL UPF3A ENST00000375299 human ensembl 74_37 +1 known frame_shift_del c.790 p.E267fs 0.943 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3A HGNC ENSG00000169062 tier1 51 0 0.00 48 29 37.66 UQCC2 0 genome.wustl.edu 37 6 33668253 33668253 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 33668253 33668253 G A SNP UQCC2 ENST00000607484 human ensembl 74_37 -1 known missense c.251 p.S84L 0.990 NULL NULL - no_errors UQCC2 HGNC ENSG00000137288 tier1 - - 90 0 0.00 59 38 38.78 UQCRC1 0 genome.wustl.edu 37 3 48637505 48637505 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 48637505 48637505 G A SNP UQCRC1 ENST00000203407 human ensembl 74_37 -1 known silent c.1293 p.S431 1.000 superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors UQCRC1 HGNC ENSG00000010256 tier1 - - 24 0 0.00 16 10 38.46 UQCRC2 0 genome.wustl.edu 37 16 21980007 21980007 + Splice_Site SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 21980007 21980007 G T SNP UQCRC2 ENST00000268379 human ensembl 74_37 +1 known splice_site c.670+1 e8+1 1.000 - - - no_errors UQCRC2 HGNC ENSG00000140740 tier1 - - 87 0 0.00 105 6 5.41 URAHP 0 genome.wustl.edu 37 16 90110921 90110921 + RNA SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 90110921 90110921 G T SNP URAHP ENST00000409768 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors URAHP HGNC ENSG00000222019 tier1 - - 41 0 0.00 27 4 12.90 URI1 0 genome.wustl.edu 37 19 30503199 30503199 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 30503199 30503199 G A SNP URI1 ENST00000542441 human ensembl 74_37 +1 known missense c.1186 p.V396I 1.000 NULL pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin - no_errors URI1 HGNC ENSG00000105176 tier1 - - 46 0 0.00 28 21 42.00 UROD 0 genome.wustl.edu 37 1 45480557 45480557 + RNA SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 45480557 45480557 T C SNP UROD ENST00000466193 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors UROD HGNC ENSG00000126088 tier1 - - 58 0 0.00 33 22 38.60 USF2 0 genome.wustl.edu 37 19 35770659 35770660 + RNA DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 35770659 35770660 AA - DEL USF2 ENST00000600341 human ensembl 74_37 +1 known rna NULL NULL 0.089:0.925 - - - no_errors USF2 HGNC ENSG00000105698 tier1 38 0 0.00 34 13 27.66 USHBP1 0 genome.wustl.edu 37 19 17374897 17374898 + Frame_Shift_Ins INS - - T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 17374897 17374898 - T INS USHBP1 ENST00000252597 human ensembl 74_37 -1 known frame_shift_ins c.117_116 p.P40fs 0.000:0.000 NULL pfam_USH1C-bd_PDZ_domain - no_errors USHBP1 HGNC ENSG00000130307 tier1 73 0 0.00 46 17 26.98 USP10 0 genome.wustl.edu 37 16 84797822 84797822 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 84797822 84797822 G A SNP USP10 ENST00000570191 human ensembl 74_37 +1 known silent c.1797 p.A599 0.008 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Ataxin-2_C,pfscan_Peptidase_C19/C67 - no_errors USP10 HGNC ENSG00000103194 tier1 - - 35 0 0.00 17 8 32.00 USP21 0 genome.wustl.edu 37 1 161135370 161135370 + RNA DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 161135370 161135370 T - DEL USP21 ENST00000493054 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors USP21 HGNC ENSG00000143258 tier1 49 0 0.00 51 25 32.89 USP27X-AS1 0 genome.wustl.edu 37 X 49643278 49643278 + RNA DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 49643278 49643278 C - DEL USP27X-AS1 ENST00000437322 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors USP27X-AS1 HGNC ENSG00000234390 tier1 8 0 0.00 1 15 93.75 USP29 0 genome.wustl.edu 37 19 57640238 57640239 + Frame_Shift_Ins INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 57640238 57640239 - A INS USP29 ENST00000254181 human ensembl 74_37 +1 known frame_shift_ins c.195_196 p.R67fs 0.000:0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP29 HGNC ENSG00000131864 tier1 27 0 0.00 25 17 40.48 USP31 0 genome.wustl.edu 37 16 23085053 23085053 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 23085053 23085053 G T SNP USP31 ENST00000219689 human ensembl 74_37 -1 known missense c.2325 p.S775R 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP31 HGNC ENSG00000103404 tier1 - - 33 0 0.00 20 3 13.04 USP32P2 0 genome.wustl.edu 37 17 18415649 18415649 + RNA SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 18415649 18415649 G T SNP USP32P2 ENST00000412260 human ensembl 74_37 -1 known rna NULL NULL 0.074 - - - no_errors USP32P2 HGNC ENSG00000233327 tier1 - - 55 0 0.00 45 5 10.00 USP34 0 genome.wustl.edu 37 2 61438924 61438924 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 61438924 61438924 G A SNP USP34 ENST00000398571 human ensembl 74_37 -1 known silent c.8823 p.C2941 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 tier1 - - 48 0 0.00 38 26 40.62 USP36 0 genome.wustl.edu 37 17 76799558 76799558 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 76799558 76799558 C T SNP USP36 ENST00000312010 human ensembl 74_37 -1 known missense c.2719 p.G907S 0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP36 HGNC ENSG00000055483 tier1 rs200106890 - 77 0 0.00 30 18 37.50 USP37 0 genome.wustl.edu 37 2 219344406 219344406 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 219344406 219344406 T C SNP USP37 ENST00000258399 human ensembl 74_37 -1 known missense c.1868 p.N623S 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67 - no_errors USP37 HGNC ENSG00000135913 tier1 - - 26 0 0.00 25 13 34.21 USP40 0 genome.wustl.edu 37 2 234474223 234474223 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 234474223 234474223 A - DEL USP40 ENST00000450966 human ensembl 74_37 -1 known frame_shift_del c.14 p.L5fs 0.901 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP40 HGNC ENSG00000085982 tier1 20 0 0.00 6 4 40.00 USP47 0 genome.wustl.edu 37 11 11969622 11969622 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 11969622 11969622 C T SNP USP47 ENST00000399455 human ensembl 74_37 +1 known silent c.3282 p.S1094 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP47 HGNC ENSG00000170242 tier1 - - 24 0 0.00 28 20 41.67 USP48 0 genome.wustl.edu 37 1 22033386 22033387 + Frame_Shift_Del DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 22033386 22033387 AA - DEL USP48 ENST00000529637 human ensembl 74_37 -1 novel frame_shift_del c.1975_1974 p.S659fs 0.000:0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 tier1 22 0 0.00 19 7 26.92 USP48 0 genome.wustl.edu 37 1 22016515 22016515 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 22016515 22016515 G T SNP USP48 ENST00000308271 human ensembl 74_37 -1 known silent c.2961 p.A987 0.998 pfscan_Ubiquitin_supergroup pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 34 0 0.00 29 3 9.38 USP7 0 genome.wustl.edu 37 16 9017259 9017259 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 9017259 9017259 G A SNP USP7 ENST00000344836 human ensembl 74_37 -1 known missense c.196 p.R66C 1.000 superfamily_TRAF-like pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67 - no_errors USP7 HGNC ENSG00000187555 tier1 - - 41 0 0.00 16 10 38.46 USP9X 0 genome.wustl.edu 37 X 41029818 41029818 + Silent SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 41029818 41029818 T C SNP USP9X ENST00000324545 human ensembl 74_37 +1 known silent c.2973 p.G991 0.969 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP9X HGNC ENSG00000124486 tier1 - - 59 0 0.00 10 52 83.87 USP9Y 0 genome.wustl.edu 37 Y 14968773 14968776 + RNA DEL AAAA AAAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 Y 14968773 14968776 AAAA - DEL USP9Y ENST00000471409 human ensembl 74_37 +1 known rna NULL NULL 0.995:0.996:0.998:1.000 - - - no_errors USP9Y HGNC ENSG00000114374 tier1 25 0 0.00 4 18 81.82 UTP18 0 genome.wustl.edu 37 17 49338044 49338044 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 49338044 49338044 G - DEL UTP18 ENST00000225298 human ensembl 74_37 +1 known frame_shift_del c.99 p.P35fs 0.002 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors UTP18 HGNC ENSG00000011260 tier1 32 0 0.00 17 12 41.38 UTP20 0 genome.wustl.edu 37 12 101680157 101680157 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 101680157 101680157 T - DEL UTP20 ENST00000261637 human ensembl 74_37 +1 known frame_shift_del c.385 p.L131fs 1.000 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 tier1 50 0 0.00 29 14 32.56 UTP20 0 genome.wustl.edu 37 12 101739437 101739437 + Nonsense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 101739437 101739437 G T SNP UTP20 ENST00000261637 human ensembl 74_37 +1 known nonsense c.4711 p.E1571* 1.000 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 35 0 0.00 37 2 5.13 VANGL1 0 genome.wustl.edu 37 1 116226673 116226673 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 116226673 116226673 G A SNP VANGL1 ENST00000310260 human ensembl 74_37 +1 known missense c.1055 p.R352Q 0.998 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL1 HGNC ENSG00000173218 tier1 - - 52 0 0.00 22 12 35.29 VAX1 0 genome.wustl.edu 37 10 118893539 118893539 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 118893539 118893539 C T SNP VAX1 ENST00000369206 human ensembl 74_37 -1 known missense c.985 p.E329K 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors VAX1 HGNC ENSG00000148704 tier1 - - 54 0 0.00 28 26 48.15 VCAN 0 genome.wustl.edu 37 5 82786221 82786221 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 82786221 82786221 G A SNP VCAN ENST00000265077 human ensembl 74_37 +1 known silent c.375 p.A125 0.068 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 tier1 - - 30 0 0.00 19 13 40.62 VEPH1 0 genome.wustl.edu 37 3 157081227 157081227 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 157081227 157081227 T - DEL VEPH1 ENST00000362010 human ensembl 74_37 -1 known frame_shift_del c.1661 p.N554fs 1.000 NULL pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors VEPH1 HGNC ENSG00000197415 tier1 53 0 0.00 28 15 34.88 VILL 0 genome.wustl.edu 37 3 38040859 38040859 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 38040859 38040859 G T SNP VILL ENST00000283713 human ensembl 74_37 +1 known missense c.1111 p.G371C 0.938 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VILL HGNC ENSG00000136059 tier1 - - 50 0 0.00 14 6 30.00 VPS13C 0 genome.wustl.edu 37 15 62244050 62244050 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 62244050 62244050 T 0 DEL VPS13C ENST00000261517 human ensembl 74_37 -1 known frame_shift_del c.4429 p.I1477fs 0.829 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 52 0 0.00 55 4 6.78 VPS13D 0 genome.wustl.edu 37 1 12387744 12387744 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 12387744 12387744 C T SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.8030 p.A2677V 1.000 superfamily_UBA-like pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 tier1 - - 72 0 0.00 68 40 37.04 VPS36 0 genome.wustl.edu 37 13 52999941 52999942 + RNA INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 52999941 52999942 - A INS VPS36 ENST00000492650 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.001 - - - no_errors VPS36 HGNC ENSG00000136100 tier1 13 0 0.00 13 7 35.00 VPS39 0 genome.wustl.edu 37 15 42479523 42479523 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 42479523 42479523 C T SNP VPS39 ENST00000348544 human ensembl 74_37 -1 known silent c.513 p.A171 0.399 pfam_Citron,superfamily_WD40_repeat_dom,smart_Citron pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron - no_errors VPS39 HGNC ENSG00000166887 tier1 rs149434119 - 35 0 0.00 23 14 37.84 VRK2 0 genome.wustl.edu 37 2 58373508 58373509 + Frame_Shift_Ins INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 58373508 58373509 - A INS VRK2 ENST00000340157 human ensembl 74_37 +1 known frame_shift_ins c.1081_1082 p.V364fs 0.001:0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors VRK2 HGNC ENSG00000028116 tier1 21 0 0.00 17 10 37.04 VSIG10 0 genome.wustl.edu 37 12 118517261 118517261 + Missense_Mutation SNP A A C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 118517261 118517261 A C SNP VSIG10 ENST00000359236 human ensembl 74_37 -1 known missense c.815 p.L272R 0.892 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VSIG10 HGNC ENSG00000176834 tier1 - - 41 0 0.00 34 4 10.53 VSIG4 0 genome.wustl.edu 37 X 65244881 65244881 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 65244881 65244881 T C SNP VSIG4 ENST00000374737 human ensembl 74_37 -1 known missense c.926 p.K309R 0.098 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors VSIG4 HGNC ENSG00000155659 tier1 - - 15 0 0.00 4 14 77.78 VSIG8 0 genome.wustl.edu 37 1 159827704 159827704 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 159827704 159827704 G A SNP VSIG8 ENST00000368100 human ensembl 74_37 -1 known silent c.483 p.N161 0.667 pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors VSIG8 HGNC ENSG00000243284 57 0 0.00 73 4 5.19 VSNL1 0 genome.wustl.edu 37 2 17836516 17836516 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 17836516 17836516 G A SNP VSNL1 ENST00000295156 human ensembl 74_37 +1 known missense c.431 p.G144D 0.999 prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors VSNL1 HGNC ENSG00000163032 tier1 - - 17 0 0.00 10 6 37.50 VSNL1 0 genome.wustl.edu 37 2 17836616 17836616 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 17836616 17836616 C T SNP VSNL1 ENST00000295156 human ensembl 74_37 +1 known silent c.531 p.S177 1.000 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors VSNL1 HGNC ENSG00000163032 18 0 0.00 18 2 10.00 VSTM2A 0 genome.wustl.edu 37 7 54621750 54621750 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 54621750 54621750 C T SNP VSTM2A ENST00000404951 human ensembl 74_37 +1 putative silent c.825 p.C275 0.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM2A HGNC ENSG00000170419 tier1 - - 51 0 0.00 18 15 45.45 VSTM2B 0 genome.wustl.edu 37 19 30020813 30020813 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 30020813 30020813 G A SNP VSTM2B ENST00000335523 human ensembl 74_37 +1 known missense c.385 p.V129M 1.000 pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM2B HGNC ENSG00000187135 tier1 - - 71 0 0.00 18 22 55.00 VWA1 0 genome.wustl.edu 37 1 1372492 1372492 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 1372492 1372492 C T SNP VWA1 ENST00000476993 human ensembl 74_37 +1 known missense c.259 p.P87S 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors VWA1 HGNC ENSG00000179403 tier1 - - 109 0 0.00 46 24 33.80 VWA3B 0 genome.wustl.edu 37 2 98804579 98804579 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 98804579 98804579 C T SNP VWA3B ENST00000477737 human ensembl 74_37 +1 known missense c.1453 p.R485W 0.364 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3B HGNC ENSG00000168658 tier1 rs200956872 - 159 0 0.00 102 58 36.25 WAPAL 0 genome.wustl.edu 37 10 88196508 88196508 + RNA SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 88196508 88196508 G T SNP WAPAL ENST00000484070 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors WAPAL HGNC ENSG00000062650 tier1 - - 62 0 0.00 82 5 5.75 WASF2 0 genome.wustl.edu 37 1 27742509 27742509 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 27742509 27742509 C A SNP WASF2 ENST00000430629 human ensembl 74_37 -1 known missense c.507 p.K169N 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF2 HGNC ENSG00000158195 tier1 - - 97 0 0.00 95 49 34.03 WASF3 0 genome.wustl.edu 37 13 27259944 27259944 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 27259944 27259944 G A SNP WASF3 ENST00000335327 human ensembl 74_37 +1 known missense c.1471 p.D491N 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC ENSG00000132970 tier1 - - 27 0 0.00 28 12 30.00 WASIR2 0 genome.wustl.edu 37 16 74640 74640 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 74640 74640 C T SNP WASIR2 ENST00000329244 human ensembl 74_37 +1 known rna NULL NULL 0.044 - - - no_errors WASIR2 HGNC ENSG00000231439 35 0 0.00 21 4 16.00 WASL 0 genome.wustl.edu 37 7 123332485 123332485 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 123332485 123332485 T - DEL WASL ENST00000223023 human ensembl 74_37 -1 known frame_shift_del c.1263 p.V422fs 1.000 pfam_WH2_dom,superfamily_WASP_C,smart_WH2_dom,pfscan_WH2_dom pfam_WH1/EVH1,pfam_CRIB_dom,pfam_WH2_dom,superfamily_WASP_C,smart_WH1/EVH1,smart_CRIB_dom,smart_WH2_dom,pfscan_CRIB_dom,pfscan_WH1/EVH1,pfscan_WH2_dom - no_errors WASL HGNC ENSG00000106299 tier1 45 0 0.00 23 9 28.12 WBP2NL 0 genome.wustl.edu 37 22 42399163 42399166 + RNA DEL AAAA AAAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 42399163 42399166 AAAA - DEL WBP2NL ENST00000461730 human ensembl 74_37 +1 known rna NULL NULL 0.027:0.025:0.028:0.037 - - - no_errors WBP2NL HGNC ENSG00000183066 tier1 58 0 0.00 26 37 58.73 WDFY1 0 genome.wustl.edu 37 2 224770667 224770667 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 224770667 224770667 G T SNP WDFY1 ENST00000233055 human ensembl 74_37 -1 known missense c.331 p.P111T 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDFY1 HGNC ENSG00000085449 tier1 - - 63 0 0.00 49 5 9.26 WDR17 0 genome.wustl.edu 37 4 177058691 177058691 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 177058691 177058691 G - DEL WDR17 ENST00000280190 human ensembl 74_37 +1 known frame_shift_del c.1360 p.G455fs 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 tier1 96 0 0.00 67 27 28.72 WDR19 0 genome.wustl.edu 37 4 39206803 39206804 + Frame_Shift_Ins INS - - T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 39206803 39206804 - T INS WDR19 ENST00000399820 human ensembl 74_37 +1 known frame_shift_ins c.633_634 p.L213fs 0.993:0.998 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR19 HGNC ENSG00000157796 tier1 47 0 0.00 30 21 41.18 WDR41 0 genome.wustl.edu 37 5 76732211 76732212 + Frame_Shift_Ins INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 76732211 76732212 - A INS WDR41 ENST00000296679 human ensembl 74_37 -1 known frame_shift_ins c.1102_1101 p.N367fs 1.000:1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR41 HGNC ENSG00000164253 tier1 72 0 0.00 53 24 31.17 WDR66 0 genome.wustl.edu 37 12 122405917 122405917 + Silent SNP A A T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 122405917 122405917 A T SNP WDR66 ENST00000288912 human ensembl 74_37 +1 known silent c.2613 p.G871 0.797 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 tier1 - - 66 0 0.00 50 14 21.88 WDR7 0 genome.wustl.edu 37 18 54363659 54363659 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 54363659 54363659 T C SNP WDR7 ENST00000254442 human ensembl 74_37 +1 known missense c.1544 p.I515T 1.000 superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 tier1 - - 71 0 0.00 46 31 40.26 WDR7 0 genome.wustl.edu 37 18 54423951 54423951 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 54423951 54423951 G T SNP WDR7 ENST00000254442 human ensembl 74_37 +1 known missense c.2127 p.R709S 1.000 NULL pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 tier1 - - 52 0 0.00 65 4 5.80 WDR81 0 genome.wustl.edu 37 17 1619894 1619894 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 1619894 1619894 C A SNP WDR81 ENST00000437219 human ensembl 74_37 +1 known missense c.25 p.L9M 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 tier1 - - 41 0 0.00 28 14 33.33 WDR90 0 genome.wustl.edu 37 16 708575 708575 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 708575 708575 C T SNP WDR90 ENST00000549091 human ensembl 74_37 +1 novel silent c.2817 p.D939 0.060 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 tier1 - - 63 0 0.00 25 21 43.75 WDR90 0 genome.wustl.edu 37 16 712011 712011 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 712011 712011 C T SNP WDR90 ENST00000549091 human ensembl 74_37 +1 novel missense c.3985 p.R1329C 0.000 superfamily_Quinonprotein_ADH-like_supfam,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 tier1 - - 29 0 0.00 9 12 57.14 WDTC1 0 genome.wustl.edu 37 1 27621108 27621108 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 27621108 27621108 G - DEL WDTC1 ENST00000319394 human ensembl 74_37 +1 known frame_shift_del c.861 p.E290fs 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 tier1 45 0 0.00 29 18 38.30 WDTC1 0 genome.wustl.edu 37 1 27622891 27622891 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 27622891 27622891 G T SNP WDTC1 ENST00000319394 human ensembl 74_37 +1 known silent c.948 p.G316 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 tier1 - - 53 0 0.00 68 5 6.85 WHAMM 0 genome.wustl.edu 37 15 83499658 83499658 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 83499658 83499658 C T SNP WHAMM ENST00000286760 human ensembl 74_37 +1 known missense c.1949 p.P650L 0.000 NULL superfamily_tRNA-bd_arm,pfscan_WH2_dom - no_errors WHAMM HGNC ENSG00000156232 tier1 - - 224 0 0.00 212 16 7.02 WHSC1L1 0 genome.wustl.edu 37 8 38174997 38174997 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 38174997 38174997 C T SNP WHSC1L1 ENST00000525081 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors WHSC1L1 HGNC ENSG00000147548 tier1 - - 32 0 0.00 39 15 27.78 WIZ 0 genome.wustl.edu 37 19 15549931 15549933 + In_Frame_Del DEL TCC TCC - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 15549931 15549933 TCC - DEL WIZ ENST00000389282 human ensembl 74_37 -1 known in_frame_del c.1730_1728 p.E576in_frame_del 0.082:0.112:0.058 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 tier1 21 0 0.00 15 6 28.57 WLS 0 genome.wustl.edu 37 1 68603679 68603679 + RNA SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 68603679 68603679 A G SNP WLS ENST00000498615 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors WLS HGNC ENSG00000116729 tier1 - - 22 0 0.00 25 6 19.35 WNT16 0 genome.wustl.edu 37 7 120969811 120969811 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 120969811 120969811 G A SNP WNT16 ENST00000222462 human ensembl 74_37 +1 known missense c.286 p.A96T 0.000 pfam_Wnt,smart_Wnt,prints_Wnt16 pfam_Wnt,smart_Wnt,prints_Wnt16,prints_Wnt - no_errors WNT16 HGNC ENSG00000002745 tier1 - - 73 0 0.00 24 12 33.33 WNT5A 0 genome.wustl.edu 37 3 55503989 55503989 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 55503989 55503989 A - DEL WNT5A ENST00000493406 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors WNT5A HGNC ENSG00000114251 tier1 29 0 0.00 25 11 30.56 WNT5B 0 genome.wustl.edu 37 12 1755422 1755422 + RNA SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 1755422 1755422 G A SNP WNT5B ENST00000545747 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors WNT5B HGNC ENSG00000111186 tier1 - - 35 0 0.00 46 11 18.64 WNT7B 0 genome.wustl.edu 37 22 46327144 46327144 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 22 46327144 46327144 C T SNP WNT7B ENST00000339464 human ensembl 74_37 -1 known missense c.404 p.R135H 0.985 pfam_Wnt,smart_Wnt,prints_Wnt7 pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7 - no_errors WNT7B HGNC ENSG00000188064 tier1 - - 71 0 0.00 48 22 31.43 WNT9B 0 genome.wustl.edu 37 17 44952482 44952482 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 44952482 44952482 C T SNP WNT9B ENST00000290015 human ensembl 74_37 +1 known missense c.350 p.A117V 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT9B HGNC ENSG00000158955 96 0 0.00 70 4 5.41 WRAP73 0 genome.wustl.edu 37 1 3548109 3548109 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 3548109 3548109 C T SNP WRAP73 ENST00000270708 human ensembl 74_37 -1 known silent c.1161 p.R387 0.997 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WRAP73 HGNC ENSG00000116213 tier1 - - 43 0 0.00 21 6 22.22 WWOX 0 genome.wustl.edu 37 16 78420830 78420830 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 78420830 78420830 T C SNP WWOX ENST00000566780 human ensembl 74_37 +1 known missense c.590 p.F197S 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_WW_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom,prints_Glc/ribitol_DH - no_errors WWOX HGNC ENSG00000186153 tier1 - - 93 0 0.00 17 29 63.04 WWOX 0 genome.wustl.edu 37 16 78466429 78466429 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 78466429 78466429 G A SNP WWOX ENST00000566780 human ensembl 74_37 +1 known missense c.836 p.R279H 1.000 NULL pfam_WW_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom,prints_Glc/ribitol_DH - no_errors WWOX HGNC ENSG00000186153 20 0 0.00 11 3 21.43 XCL2 0 genome.wustl.edu 37 1 168510294 168510294 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 168510294 168510294 C T SNP XCL2 ENST00000367819 human ensembl 74_37 -1 known missense c.241 p.V81I 0.000 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_XCL1 - no_errors XCL2 HGNC ENSG00000143185 tier1 - - 221 0 0.00 202 88 30.34 XIST 0 genome.wustl.edu 37 X 73071132 73071132 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 73071132 73071132 C T SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 tier1 - - 35 0 0.00 4 21 84.00 XPO6 0 genome.wustl.edu 37 16 28164033 28164033 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 28164033 28164033 G T SNP XPO6 ENST00000304658 human ensembl 74_37 -1 known missense c.1171 p.Q391K 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO6 HGNC ENSG00000169180 tier1 - - 30 0 0.00 27 4 12.90 XPOT 0 genome.wustl.edu 37 12 64812733 64812733 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 64812733 64812733 G A SNP XPOT ENST00000332707 human ensembl 74_37 +1 known silent c.348 p.E116 0.939 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 77 0 0.00 88 5 5.38 XRCC5 0 genome.wustl.edu 37 2 216986826 216986826 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 216986826 216986826 G T SNP XRCC5 ENST00000392132 human ensembl 74_37 +1 known missense c.533 p.R178I 1.000 pfam_Ku_N,smart_VWF_A pfam_Ku_N,pfam_Ku_PK_bind,pfam_Ku70/Ku80_beta-barrel_dom,pfam_Ku_C,superfamily_SPOC_like_C_dom,superfamily_Ku_PK_bind,smart_VWF_A,smart_Ku70/Ku80_beta-barrel_dom - no_errors XRCC5 HGNC ENSG00000079246 85 0 0.00 76 4 5.00 XYLT1 0 genome.wustl.edu 37 16 17292232 17292232 + Silent SNP T T G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 17292232 17292232 T G SNP XYLT1 ENST00000261381 human ensembl 74_37 -1 known silent c.1126 p.R376 0.974 pfam_Glyco_trans_14 pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT1 HGNC ENSG00000103489 tier1 - - 79 0 0.00 38 24 38.71 XYLT2 0 genome.wustl.edu 37 17 48431259 48431259 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 48431259 48431259 C T SNP XYLT2 ENST00000017003 human ensembl 74_37 +1 known missense c.404 p.A135V 0.811 NULL pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 tier1 - - 19 0 0.00 12 9 42.86 XYLT2 0 genome.wustl.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 48433967 48433967 C - DEL XYLT2 ENST00000017003 human ensembl 74_37 +1 known frame_shift_del c.1578 p.G529fs 1.000 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 tier1 35 0 0.00 9 15 62.50 YBEY 0 genome.wustl.edu 37 21 47707039 47707040 + Splice_Site INS - - AA TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 21 47707039 47707040 - AA INS YBEY ENST00000329319 human ensembl 74_37 +1 known splice_site_ins c.210+2_210+1 e1+2 1.000:0.124 - - - no_errors YBEY HGNC ENSG00000182362 tier1 22 0 0.00 31 4 11.43 YJEFN3 0 genome.wustl.edu 37 19 19646460 19646460 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 19646460 19646460 C - DEL YJEFN3 ENST00000514277 human ensembl 74_37 +1 known frame_shift_del c.666 p.L224fs 1.000 pfam_YjeF_N_dom,superfamily_YjeF_N_dom,tigrfam_YjeF_N_dom pfam_YjeF_N_dom,superfamily_YjeF_N_dom,tigrfam_YjeF_N_dom - no_errors YJEFN3 HGNC ENSG00000250067 tier1 29 0 0.00 18 7 28.00 YLPM1 0 genome.wustl.edu 37 14 75248115 75248115 + Nonsense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 75248115 75248115 C T SNP YLPM1 ENST00000325680 human ensembl 74_37 +1 known nonsense c.1369 p.R457* 0.974 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 tier1 - - 53 0 0.00 29 29 50.00 YY1 0 genome.wustl.edu 37 14 100728643 100728644 + Frame_Shift_Ins INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 100728643 100728644 - A INS YY1 ENST00000262238 human ensembl 74_37 +1 known frame_shift_ins c.682_683 p.D231fs 1.000:1.000 pirsf_TF_Yin_yang pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 - no_errors YY1 HGNC ENSG00000100811 tier1 55 0 0.00 36 22 37.93 ZAK 0 genome.wustl.edu 37 2 174062830 174062830 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 174062830 174062830 A - DEL ZAK ENST00000375213 human ensembl 74_37 +1 known frame_shift_del c.659 p.N222fs 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLTK Uniprot_gn ENSG00000091436 tier1 63 0 0.00 44 30 40.54 ZAN 0 genome.wustl.edu 37 7 100350086 100350086 + Missense_Mutation SNP A A C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 100350086 100350086 A C SNP ZAN ENST00000546292 human ensembl 74_37 +1 known missense c.2358 p.K786N 0.000 NULL 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 ENSG00000146839 tier1 - - 48 0 0.00 28 24 46.15 ZAP70 0 genome.wustl.edu 37 2 98351785 98351785 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 98351785 98351785 C T SNP ZAP70 ENST00000264972 human ensembl 74_37 +1 known silent c.1155 p.R385 0.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ZAP70 HGNC ENSG00000115085 tier1 rs193922633 - 62 0 0.00 24 13 35.14 ZBTB17 0 genome.wustl.edu 37 1 16269019 16269019 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 16269019 16269019 C T SNP ZBTB17 ENST00000462525 human ensembl 74_37 -1 known rna NULL NULL 0.091 - - - no_errors ZBTB17 HGNC ENSG00000116809 tier1 - - 46 0 0.00 28 13 31.71 ZBTB20 0 genome.wustl.edu 37 3 114058003 114058003 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 114058003 114058003 G - DEL ZBTB20 ENST00000474710 human ensembl 74_37 -1 known frame_shift_del c.2075 p.P692fs 0.678 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 ZBTB20 HGNC ENSG00000181722 tier1 69 0 0.00 29 27 48.21 ZBTB20 0 genome.wustl.edu 37 3 114070354 114070354 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 114070354 114070354 G A SNP ZBTB20 ENST00000474710 human ensembl 74_37 -1 known missense c.571 p.R191C 0.997 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like 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 ZBTB20 HGNC ENSG00000181722 tier1 - - 33 0 0.00 21 10 32.26 ZBTB22 0 genome.wustl.edu 37 6 33283669 33283669 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 33283669 33283669 C - DEL ZBTB22 ENST00000418724 human ensembl 74_37 -1 known frame_shift_del c.1025 p.G342fs 0.026 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB22 HGNC ENSG00000236104 tier1 48 0 0.00 16 8 33.33 ZBTB3 0 genome.wustl.edu 37 11 62521141 62521141 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 62521141 62521141 C T SNP ZBTB3 ENST00000394807 human ensembl 74_37 -1 known missense c.146 p.G49D 1.000 superfamily_BTB/POZ_fold pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB3 HGNC ENSG00000185670 12 0 0.00 7 5 41.67 ZBTB38 0 genome.wustl.edu 37 3 141164136 141164136 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 141164136 141164136 A G SNP ZBTB38 ENST00000321464 human ensembl 74_37 +1 known missense c.2909 p.K970R 0.060 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 ZBTB38 HGNC ENSG00000177311 tier1 - - 18 0 0.00 5 4 44.44 ZBTB7B 0 genome.wustl.edu 37 1 154987852 154987852 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 154987852 154987852 C T SNP ZBTB7B ENST00000417934 human ensembl 74_37 +1 known missense c.818 p.A273V 0.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7B HGNC ENSG00000160685 21 0 0.00 8 3 27.27 ZBTB7C 0 genome.wustl.edu 37 18 45566519 45566519 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 45566519 45566519 C - DEL ZBTB7C ENST00000332053 human ensembl 74_37 -1 known frame_shift_del c.960 p.P321fs 0.989 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7C HGNC ENSG00000184828 tier1 66 0 0.00 27 12 30.77 ZC3H18 0 genome.wustl.edu 37 16 88665107 88665107 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 88665107 88665107 G A SNP ZC3H18 ENST00000301011 human ensembl 74_37 +1 known missense c.917 p.R306Q 1.000 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 tier1 - - 34 0 0.00 25 7 21.88 ZC3H6 0 genome.wustl.edu 37 2 113067570 113067570 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 113067570 113067570 G T SNP ZC3H6 ENST00000343936 human ensembl 74_37 +1 known missense c.445 p.G149C 0.999 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H6 HGNC ENSG00000188177 37 0 0.00 42 3 6.67 ZC3HAV1 0 genome.wustl.edu 37 7 138764917 138764917 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 138764917 138764917 C T SNP ZC3HAV1 ENST00000242351 human ensembl 74_37 -1 known missense c.770 p.S257N 0.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors ZC3HAV1 HGNC ENSG00000105939 tier1 - - 58 0 0.00 25 23 47.92 ZC3HAV1 0 genome.wustl.edu 37 7 138774372 138774372 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 138774372 138774372 C T SNP ZC3HAV1 ENST00000242351 human ensembl 74_37 -1 known missense c.442 p.E148K 0.995 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors ZC3HAV1 HGNC ENSG00000105939 tier1 - - 23 0 0.00 11 10 47.62 ZC3HC1 0 genome.wustl.edu 37 7 129688937 129688937 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 129688937 129688937 G A SNP ZC3HC1 ENST00000358303 human ensembl 74_37 -1 known missense c.194 p.A65V 0.967 NULL pfam_Znf_C3HC-like,pfam_NIPA/Rsm1 - no_errors ZC3HC1 HGNC ENSG00000091732 tier1 - - 79 0 0.00 51 31 37.80 ZDBF2 0 genome.wustl.edu 37 2 207172739 207172739 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 207172739 207172739 G T SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known missense c.3487 p.D1163Y 0.014 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 tier1 - - 41 0 0.00 48 4 7.69 ZDHHC14 0 genome.wustl.edu 37 6 157963736 157963736 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 157963736 157963736 G A SNP ZDHHC14 ENST00000359775 human ensembl 74_37 +1 known missense c.365 p.R122Q 0.992 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC14 HGNC ENSG00000175048 tier1 - - 32 0 0.00 26 16 38.10 ZDHHC15 0 genome.wustl.edu 37 X 74636973 74636973 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 74636973 74636973 G T SNP ZDHHC15 ENST00000373367 human ensembl 74_37 -1 known missense c.916 p.P306T 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC15 HGNC ENSG00000102383 tier1 - - 53 0 0.00 9 41 82.00 ZDHHC15 0 genome.wustl.edu 37 X 74636981 74636981 + Nonsense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 74636981 74636981 G T SNP ZDHHC15 ENST00000373367 human ensembl 74_37 -1 known nonsense c.908 p.S303* 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC15 HGNC ENSG00000102383 tier1 - - 51 0 0.00 40 4 9.09 ZDHHC19 0 genome.wustl.edu 37 3 195934356 195934356 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 195934356 195934356 G A SNP ZDHHC19 ENST00000296326 human ensembl 74_37 -1 known silent c.600 p.S200 0.316 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC19 HGNC ENSG00000163958 tier1 - - 24 0 0.00 10 14 58.33 ZDHHC3 0 genome.wustl.edu 37 3 45000845 45000845 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 45000845 45000845 G - DEL ZDHHC3 ENST00000296127 human ensembl 74_37 -1 known frame_shift_del c.84 p.Y29fs 0.665 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC3 HGNC ENSG00000163812 tier1 40 0 0.00 14 12 46.15 ZDHHC7 0 genome.wustl.edu 37 16 85010039 85010039 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 85010039 85010039 G - DEL ZDHHC7 ENST00000344861 human ensembl 74_37 -1 known frame_shift_del c.948 p.S317fs 0.902 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC7 HGNC ENSG00000153786 tier1 36 0 0.00 16 6 27.27 ZFAND4 0 genome.wustl.edu 37 10 46121400 46121400 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 46121400 46121400 A - DEL ZFAND4 ENST00000344646 human ensembl 74_37 -1 known frame_shift_del c.1871 p.L624fs 0.871 NULL pfam_Ubiquitin_dom,pfam_Znf_AN1,smart_Ubiquitin_dom,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors ZFAND4 HGNC ENSG00000172671 tier1 19 0 0.00 19 16 45.71 ZFAT 0 genome.wustl.edu 37 8 135614876 135614878 + In_Frame_Del DEL CTT CTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 135614876 135614878 CTT - DEL ZFAT ENST00000377838 human ensembl 74_37 -1 known in_frame_del c.1086_1084 p.K362in_frame_del 1.000:1.000:1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 tier1 57 0 0.00 29 11 27.50 ZFHX3 0 genome.wustl.edu 37 16 72822521 72822521 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 72822521 72822521 C T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known silent c.9654 p.P3218 0.110 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 tier1 - - 101 0 0.00 40 42 51.22 ZFHX3 0 genome.wustl.edu 37 16 72822738 72822738 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 72822738 72822738 G A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.9437 p.S3146F 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 tier1 - - 69 0 0.00 63 10 13.70 ZFHX4 0 genome.wustl.edu 37 8 77616580 77616580 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 77616580 77616580 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.257 p.A86V 1.000 smart_Znf_C2H2-like pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 tier1 - - 54 0 0.00 52 23 30.67 ZFHX4 0 genome.wustl.edu 37 8 77767965 77767965 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 77767965 77767965 G T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.8808 p.M2936I 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 29 0 0.00 28 2 6.67 ZFP1 0 genome.wustl.edu 37 16 75203538 75203539 + Frame_Shift_Ins INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 75203538 75203539 - A INS ZFP1 ENST00000393430 human ensembl 74_37 +1 known frame_shift_ins c.530_531 p.N179fs 0.862:0.295 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 ZFP1 HGNC ENSG00000184517 tier1 14 0 0.00 13 5 27.78 ZFR 0 genome.wustl.edu 37 5 32403232 32403232 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 32403232 32403232 T C SNP ZFR ENST00000265069 human ensembl 74_37 -1 known missense c.1495 p.T499A 1.000 NULL pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR HGNC ENSG00000056097 tier1 - - 71 0 0.00 91 34 27.20 ZFR2 0 genome.wustl.edu 37 19 3807217 3807217 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 3807217 3807217 C T SNP ZFR2 ENST00000262961 human ensembl 74_37 -1 known missense c.2596 p.E866K 0.034 pfam_DZF,smart_DZF pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR2 HGNC ENSG00000105278 tier1 rs200032828 - 18 0 0.00 10 7 41.18 ZFYVE28 0 genome.wustl.edu 37 4 2343248 2343248 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 4 2343248 2343248 A G SNP ZFYVE28 ENST00000290974 human ensembl 74_37 -1 known missense c.275 p.I92T 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE28 HGNC ENSG00000159733 61 0 0.00 37 3 7.50 ZGLP1 0 genome.wustl.edu 37 19 10419281 10419281 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 10419281 10419281 G A SNP ZGLP1 ENST00000403903 human ensembl 74_37 -1 known missense c.77 p.P26L 0.000 NULL pfam_Znf_GATA,smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA - no_errors ZGLP1 HGNC ENSG00000220201 tier1 - - 61 0 0.00 34 39 53.42 ZGPAT 0 genome.wustl.edu 37 20 62366250 62366250 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 62366250 62366250 C T SNP ZGPAT ENST00000478385 human ensembl 74_37 +1 known rna NULL NULL 0.134 - - - no_errors ZGPAT HGNC ENSG00000197114 tier1 - - 38 0 0.00 24 27 52.94 ZIC2 0 genome.wustl.edu 37 13 100635007 100635008 + In_Frame_Ins INS - - CCA TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 100635007 100635008 - CCA INS ZIC2 ENST00000376335 human ensembl 74_37 +1 known in_frame_ins c.689_690 p.234in_frame_insH 1.000:0.990 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC2 HGNC ENSG00000043355 tier1 38 0 0.00 33 4 10.81 ZIC4 0 genome.wustl.edu 37 3 147104255 147104255 + RNA SNP T T A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 147104255 147104255 T A SNP ZIC4 ENST00000472749 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZIC4 HGNC ENSG00000174963 tier1 - - 31 0 0.00 19 19 50.00 ZIC4 0 genome.wustl.edu 37 3 147124448 147124450 + RNA DEL ACA ACA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 ACA ACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 147124448 147124450 ACA - DEL ZIC4 ENST00000464144 human ensembl 74_37 -1 putative rna NULL NULL 1.000:1.000:1.000 - - - no_errors ZIC4 HGNC ENSG00000174963 tier1 40 0 0.00 18 9 33.33 ZIC5 0 genome.wustl.edu 37 13 100622616 100622616 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 100622616 100622616 C T SNP ZIC5 ENST00000267294 human ensembl 74_37 -1 known missense c.1314 p.M438I 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC5 HGNC ENSG00000139800 tier1 - - 42 0 0.00 30 11 26.83 ZMAT4 0 genome.wustl.edu 37 8 40554909 40554909 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 40554909 40554909 G A SNP ZMAT4 ENST00000297737 human ensembl 74_37 -1 known silent c.204 p.A68 0.966 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT4 HGNC ENSG00000165061 tier1 rs149820458 - 68 0 0.00 60 23 27.38 ZMYM2 0 genome.wustl.edu 37 13 20610980 20610980 + Silent SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 20610980 20610980 A G SNP ZMYM2 ENST00000382869 human ensembl 74_37 +1 known silent c.2223 p.E741 0.997 pfam_Znf_MYM,smart_TRASH_dom pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM2 HGNC ENSG00000121741 tier1 - - 53 0 0.00 29 34 53.97 ZMYM2 0 genome.wustl.edu 37 13 20641084 20641084 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 20641084 20641084 G A SNP ZMYM2 ENST00000382869 human ensembl 74_37 +1 known missense c.3226 p.V1076I 0.999 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM2 HGNC ENSG00000121741 tier1 - - 48 0 0.00 55 21 27.63 ZMYM2 0 genome.wustl.edu 37 13 20567457 20567457 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 13 20567457 20567457 T C SNP ZMYM2 ENST00000382869 human ensembl 74_37 +1 known missense c.245 p.I82T 0.988 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM2 HGNC ENSG00000121741 31 0 0.00 45 3 6.25 ZMYM6 0 genome.wustl.edu 37 1 35485090 35485090 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 35485090 35485090 T - DEL ZMYM6 ENST00000357182 human ensembl 74_37 -1 known frame_shift_del c.292 p.M98fs 1.000 pfam_Znf_MYM,smart_TRASH_dom pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM6 HGNC ENSG00000163867 tier1 53 0 0.00 36 24 40.00 ZMYND15 0 genome.wustl.edu 37 17 4646651 4646651 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 17 4646651 4646651 A G SNP ZMYND15 ENST00000433935 human ensembl 74_37 +1 known missense c.1198 p.T400A 1.000 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND15 HGNC ENSG00000141497 tier1 - - 64 0 0.00 40 18 30.51 ZMYND19 0 genome.wustl.edu 37 9 140482038 140482038 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 140482038 140482038 A - DEL ZMYND19 ENST00000471957 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors ZMYND19 HGNC ENSG00000165724 tier1 27 0 0.00 15 9 37.50 ZNF140 0 genome.wustl.edu 37 12 133682867 133682867 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 12 133682867 133682867 G T SNP ZNF140 ENST00000355557 human ensembl 74_37 +1 known missense c.1004 p.R335M 0.974 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 ZNF140 HGNC ENSG00000196387 tier1 - - 70 0 0.00 61 5 7.58 ZNF180 0 genome.wustl.edu 37 19 44981824 44981824 + Nonsense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 44981824 44981824 C A SNP ZNF180 ENST00000221327 human ensembl 74_37 -1 known nonsense c.874 p.E292* 0.007 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 ZNF180 HGNC ENSG00000167384 tier1 - - 59 0 0.00 41 35 45.45 ZNF185 0 genome.wustl.edu 37 X 152105006 152105006 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 152105006 152105006 A G SNP ZNF185 ENST00000370270 human ensembl 74_37 +1 known missense c.1163 p.D388G 0.000 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZNF185 HGNC ENSG00000147394 tier1 - - 21 0 0.00 3 22 88.00 ZNF202 0 genome.wustl.edu 37 11 123599869 123599869 + Missense_Mutation SNP A A T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 11 123599869 123599869 A T SNP ZNF202 ENST00000336139 human ensembl 74_37 -1 known missense c.667 p.S223T 0.021 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF202 HGNC ENSG00000166261 tier1 - - 35 0 0.00 22 11 33.33 ZNF205 0 genome.wustl.edu 37 16 3170161 3170161 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 3170161 3170161 C T SNP ZNF205 ENST00000219091 human ensembl 74_37 +1 known silent c.1500 p.G500 0.601 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 ZNF205 HGNC ENSG00000122386 tier1 - - 73 0 0.00 27 22 44.90 ZNF236 0 genome.wustl.edu 37 18 74593430 74593430 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 74593430 74593430 A - DEL ZNF236 ENST00000253159 human ensembl 74_37 +1 known frame_shift_del c.1373 p.M461fs 0.988 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 tier1 34 0 0.00 16 5 23.81 ZNF25 0 genome.wustl.edu 37 10 38239495 38239498 + RNA DEL TTTT TTTT - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TTTT TTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 38239495 38239498 TTTT - DEL ZNF25 ENST00000374633 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.000:0.001:0.003 - - - no_errors ZNF25 HGNC ENSG00000175395 tier1 25 0 0.00 4 6 60.00 ZNF253 0 genome.wustl.edu 37 19 20002726 20002726 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 20002726 20002726 G A SNP ZNF253 ENST00000589717 human ensembl 74_37 +1 known missense c.670 p.G224R 0.986 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 ZNF253 HGNC ENSG00000256771 tier1 - - 40 0 0.00 41 35 46.05 ZNF271 0 genome.wustl.edu 37 18 32888075 32888076 + RNA DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 32888075 32888076 AA - DEL ZNF271 ENST00000399070 human ensembl 74_37 +1 known rna NULL NULL 0.019:0.042 - - - no_errors ZNF271 HGNC ENSG00000257267 tier1 40 0 0.00 28 8 22.22 ZNF271 0 genome.wustl.edu 37 18 32888394 32888394 + RNA SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 32888394 32888394 A G SNP ZNF271 ENST00000399070 human ensembl 74_37 +1 known rna NULL NULL 0.465 - - - no_errors ZNF271 HGNC ENSG00000257267 tier1 - - 37 0 0.00 22 8 26.67 ZNF277 0 genome.wustl.edu 37 7 111970237 111970237 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 111970237 111970237 G T SNP ZNF277 ENST00000361822 human ensembl 74_37 +1 known missense c.767 p.R256I 0.948 NULL pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF277 HGNC ENSG00000198839 54 0 0.00 49 3 5.77 ZNF280D 0 genome.wustl.edu 37 15 56958728 56958728 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 56958728 56958728 C T SNP ZNF280D ENST00000267807 human ensembl 74_37 -1 known missense c.1859 p.R620H 0.984 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280D HGNC ENSG00000137871 tier1 - - 59 0 0.00 42 40 48.78 ZNF292 0 genome.wustl.edu 37 6 87969484 87969484 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 6 87969484 87969484 A 0 DEL ZNF292 ENST00000369577 human ensembl 74_37 +1 known frame_shift_del c.6137 p.S2049fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 13 0 0.00 5 4 44.44 ZNF345 0 genome.wustl.edu 37 19 37383887 37383887 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 37383887 37383887 C T SNP ZNF345 ENST00000526123 human ensembl 74_37 +1 putative missense c.214 p.R72C 0.000 NULL NULL - no_errors ZNF345 HGNC ENSG00000251247 tier1 - - 10 0 0.00 4 4 50.00 ZNF385D 0 genome.wustl.edu 37 3 21465453 21465454 + Splice_Site INS - - C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 3 21465453 21465454 - C INS ZNF385D ENST00000281523 human ensembl 74_37 -1 known splice_site_ins c.954+1_954+1 e7+1 1.000:1.000 - - - no_errors ZNF385D HGNC ENSG00000151789 tier1 34 0 0.00 29 14 32.56 ZNF395 0 genome.wustl.edu 37 8 28217266 28217266 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 28217266 28217266 C T SNP ZNF395 ENST00000344423 human ensembl 74_37 -1 known missense c.316 p.V106I 0.366 NULL pfscan_Znf_C2H2 - no_errors ZNF395 HGNC ENSG00000186918 29 0 0.00 21 2 8.70 ZNF407 0 genome.wustl.edu 37 18 72346707 72346707 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 72346707 72346707 C - DEL ZNF407 ENST00000299687 human ensembl 74_37 +1 known frame_shift_del c.3732 p.H1246fs 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 tier1 25 0 0.00 23 10 30.30 ZNF425 0 genome.wustl.edu 37 7 148802071 148802071 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 148802071 148802071 C T SNP ZNF425 ENST00000378061 human ensembl 74_37 -1 known missense c.892 p.G298R 0.012 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,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ENSG00000204947 tier1 - - 32 0 0.00 19 20 51.28 ZNF440 0 genome.wustl.edu 37 19 11941145 11941145 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 11941145 11941145 G T SNP ZNF440 ENST00000304060 human ensembl 74_37 +1 known missense c.51 p.E17D 0.997 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF440 HGNC ENSG00000171295 tier1 - - 167 0 0.00 110 78 41.49 ZNF441 0 genome.wustl.edu 37 19 11891613 11891613 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 11891613 11891613 G T SNP ZNF441 ENST00000357901 human ensembl 74_37 +1 known missense c.974 p.R325I 0.003 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 ZNF441 HGNC ENSG00000197044 tier1 - - 71 0 0.00 81 6 6.90 ZNF461 0 genome.wustl.edu 37 19 37128585 37128588 + RNA DEL AAAA AAAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 37128585 37128588 AAAA - DEL ZNF461 ENST00000589442 human ensembl 74_37 -1 known rna NULL NULL 0.035:0.037:0.040:0.038 - - - no_errors ZNF461 HGNC ENSG00000197808 tier1 33 0 0.00 15 8 34.78 ZNF469 0 genome.wustl.edu 37 16 88497681 88497681 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 88497681 88497681 C A SNP ZNF469 ENST00000437464 human ensembl 74_37 +1 known missense c.3719 p.P1240Q 0.008 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 tier1 - - 34 0 0.00 11 13 54.17 ZNF469 0 genome.wustl.edu 37 16 88499417 88499417 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 88499417 88499417 G A SNP ZNF469 ENST00000437464 human ensembl 74_37 +1 known missense c.5455 p.A1819T 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 tier1 - - 71 0 0.00 23 20 45.45 ZNF469 0 genome.wustl.edu 37 16 88504203 88504203 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 88504203 88504203 G 0 DEL ZNF469 ENST00000437464 human ensembl 74_37 +1 known frame_shift_del c.10241 p.R3417fs 0.002 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 13 0 0.00 8 3 27.27 ZNF471 0 genome.wustl.edu 37 19 57035841 57035841 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 57035841 57035841 G A SNP ZNF471 ENST00000308031 human ensembl 74_37 +1 known missense c.405 p.M135I 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF471 HGNC ENSG00000196263 tier1 - - 36 0 0.00 29 14 32.56 ZNF479 0 genome.wustl.edu 37 7 57200022 57200022 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 57200022 57200022 T - DEL ZNF479 ENST00000331162 human ensembl 74_37 -1 known frame_shift_del c.10 p.R4fs 0.094 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 ENSG00000185177 tier1 151 0 0.00 108 35 24.48 ZNF480 0 genome.wustl.edu 37 19 52803666 52803666 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 52803666 52803666 A G SNP ZNF480 ENST00000468240 human ensembl 74_37 +1 known missense c.1 p.M1V 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 ZNF480 HGNC ENSG00000198464 tier1 - - 148 0 0.00 87 50 36.50 ZNF496 0 genome.wustl.edu 37 1 247464137 247464137 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 247464137 247464137 C T SNP ZNF496 ENST00000366498 human ensembl 74_37 -1 known missense c.1556 p.R519Q 0.533 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF496 HGNC ENSG00000162714 tier1 - - 45 0 0.00 43 14 24.56 ZNF500 0 genome.wustl.edu 37 16 4802783 4802783 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 4802783 4802783 G A SNP ZNF500 ENST00000219478 human ensembl 74_37 -1 known missense c.1037 p.T346I 0.945 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF500 HGNC ENSG00000103199 tier1 - - 93 0 0.00 47 21 30.88 ZNF517 0 genome.wustl.edu 37 8 146033029 146033029 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 146033029 146033029 G A SNP ZNF517 ENST00000359971 human ensembl 74_37 +1 known missense c.728 p.R243Q 0.926 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF517 HGNC ENSG00000197363 tier1 - - 36 0 0.00 33 16 32.65 ZNF521 0 genome.wustl.edu 37 18 22805739 22805739 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 22805739 22805739 C T SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.2143 p.D715N 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 tier1 - - 57 0 0.00 20 17 45.95 ZNF532 0 genome.wustl.edu 37 18 56646399 56646399 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 18 56646399 56646399 C T SNP ZNF532 ENST00000336078 human ensembl 74_37 +1 known missense c.3263 p.S1088L 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ENSG00000074657 tier1 - - 10 0 0.00 9 7 43.75 ZNF540 0 genome.wustl.edu 37 19 38103492 38103492 + Silent SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 38103492 38103492 A G SNP ZNF540 ENST00000316433 human ensembl 74_37 +1 known silent c.1311 p.K437 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF540 HGNC ENSG00000171817 tier1 - - 33 0 0.00 68 5 6.85 ZNF541 0 genome.wustl.edu 37 19 48025197 48025197 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 48025197 48025197 T - DEL ZNF541 ENST00000314121 human ensembl 74_37 -1 known frame_shift_del c.3682 p.M1228fs 0.998 superfamily_Homeodomain-like,smart_SANT/Myb pfam_ELM2_dom,pfam_Znf_C2H2,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors ZNF541 HGNC ENSG00000118156 tier1 66 0 0.00 42 20 32.26 ZNF552 0 genome.wustl.edu 37 19 58320156 58320156 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 58320156 58320156 C A SNP ZNF552 ENST00000391701 human ensembl 74_37 -1 known missense c.476 p.R159M 0.017 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 ZNF552 HGNC ENSG00000178935 tier1 - - 146 0 0.00 79 51 39.23 ZNF57 0 genome.wustl.edu 37 19 2915522 2915522 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 2915522 2915522 C T SNP ZNF57 ENST00000306908 human ensembl 74_37 +1 known silent c.6 p.D2 0.009 superfamily_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF57 HGNC ENSG00000171970 tier1 - - 118 0 0.00 96 26 21.31 ZNF572 0 genome.wustl.edu 37 8 125987893 125987893 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 125987893 125987893 A - DEL ZNF572 ENST00000319286 human ensembl 74_37 +1 known frame_shift_del c.11 p.K6fs 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF572 HGNC ENSG00000180938 tier1 80 0 0.00 90 31 25.62 ZNF574 0 genome.wustl.edu 37 19 42585085 42585085 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 42585085 42585085 G A SNP ZNF574 ENST00000222339 human ensembl 74_37 +1 known missense c.2597 p.R866H 0.976 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF574 HGNC ENSG00000105732 tier1 - - 25 0 0.00 12 4 25.00 ZNF578 0 genome.wustl.edu 37 19 53005160 53005160 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 53005160 53005160 A G SNP ZNF578 ENST00000421239 human ensembl 74_37 +1 known missense c.62 p.Q21R 0.032 superfamily_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF578 HGNC ENSG00000258405 tier1 - - 112 0 0.00 64 25 28.09 ZNF578 0 genome.wustl.edu 37 19 53013904 53013904 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 53013904 53013904 G A SNP ZNF578 ENST00000421239 human ensembl 74_37 +1 known silent c.270 p.L90 0.000 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF578 HGNC ENSG00000258405 tier1 - - 179 0 0.00 100 57 36.31 ZNF585B 0 genome.wustl.edu 37 19 37677212 37677212 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 37677212 37677212 C T SNP ZNF585B ENST00000532828 human ensembl 74_37 -1 known silent c.1227 p.S409 0.006 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 ZNF585B HGNC ENSG00000245680 tier1 - - 86 0 0.00 66 41 38.32 ZNF587B 0 genome.wustl.edu 37 19 58353877 58353877 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 58353877 58353877 A - DEL ZNF587B ENST00000594901 human ensembl 74_37 +1 novel frame_shift_del c.1835 p.K614fs 0.973 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 ZNF587B HGNC ENSG00000269343 tier1 57 0 0.00 47 27 36.49 ZNF608 0 genome.wustl.edu 37 5 123972614 123972616 + RNA DEL AAA AAA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 5 123972614 123972616 AAA - DEL ZNF608 ENST00000513985 human ensembl 74_37 -1 known rna NULL NULL 0.200:0.479:0.970 - - - no_errors ZNF608 HGNC ENSG00000168916 tier1 8 0 0.00 3 3 50.00 ZNF609 0 genome.wustl.edu 37 15 64967247 64967247 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 15 64967247 64967247 A - DEL ZNF609 ENST00000326648 human ensembl 74_37 +1 known frame_shift_del c.2194 p.K734fs 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 tier1 15 0 0.00 18 8 30.77 ZNF618 0 genome.wustl.edu 37 9 116812464 116812464 + RNA DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 116812464 116812464 A - DEL ZNF618 ENST00000470105 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors ZNF618 HGNC ENSG00000157657 tier1 31 0 0.00 17 7 29.17 ZNF646 0 genome.wustl.edu 37 16 31091609 31091609 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 31091609 31091609 G A SNP ZNF646 ENST00000300850 human ensembl 74_37 +1 known missense c.3964 p.E1322K 0.514 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 tier1 - - 28 0 0.00 10 6 37.50 ZNF653 0 genome.wustl.edu 37 19 11597920 11597920 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 11597920 11597920 G T SNP ZNF653 ENST00000293771 human ensembl 74_37 -1 known missense c.1225 p.P409T 0.944 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF653 HGNC ENSG00000161914 tier1 - - 63 0 0.00 33 4 10.81 ZNF671 0 genome.wustl.edu 37 19 58238698 58238698 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 58238698 58238698 G A SNP ZNF671 ENST00000600125 human ensembl 74_37 -1 known missense c.199 p.P67S 0.000 NULL NULL - no_errors ZNF671 HGNC ENSG00000083814 tier1 - - 43 0 0.00 14 17 54.84 ZNF672 0 genome.wustl.edu 37 1 249142523 249142523 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 249142523 249142523 C T SNP ZNF672 ENST00000306562 human ensembl 74_37 +1 known silent c.1050 p.C350 0.075 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF672 HGNC ENSG00000171161 tier1 - - 83 0 0.00 53 18 25.35 ZNF680 0 genome.wustl.edu 37 7 63981718 63981719 + Frame_Shift_Ins INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 63981718 63981719 - A INS ZNF680 ENST00000309683 human ensembl 74_37 -1 known frame_shift_ins c.1414_1413 p.N471fs 0.986:0.998 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 ZNF680 HGNC ENSG00000173041 tier1 37 0 0.00 33 13 28.26 ZNF687 0 genome.wustl.edu 37 1 151259034 151259035 + Frame_Shift_Del DEL TG TG - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 151259034 151259035 TG 0 DEL ZNF687 ENST00000324048 human ensembl 74_37 +1 known frame_shift_del c.267_268 p.C91fs 0.998:1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ENSG00000143373 38 0 0.00 31 6 16.22 ZNF699 0 genome.wustl.edu 37 19 9413157 9413157 + Silent SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 9413157 9413157 C A SNP ZNF699 ENST00000308650 human ensembl 74_37 -1 known silent c.72 p.V24 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF699 HGNC ENSG00000196110 tier1 - - 102 0 0.00 58 48 45.28 ZNF704 0 genome.wustl.edu 37 8 81550825 81550826 + RNA DEL AA AA - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 8 81550825 81550826 AA - DEL ZNF704 ENST00000517379 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.000 - - - no_errors ZNF704 HGNC ENSG00000164684 tier1 25 0 0.00 27 16 37.21 ZNF708 0 genome.wustl.edu 37 19 21476363 21476363 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 21476363 21476363 T - DEL ZNF708 ENST00000356929 human ensembl 74_37 -1 known frame_shift_del c.1405 p.I469fs 0.997 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF708 HGNC ENSG00000182141 tier1 41 0 0.00 23 12 34.29 ZNF711 0 genome.wustl.edu 37 X 84520244 84520246 + In_Frame_Del DEL AAG AAG - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 X 84520244 84520246 AAG - DEL ZNF711 ENST00000395402 human ensembl 74_37 +1 known in_frame_del c.833_835 p.E280in_frame_del 1.000:0.996:1.000 pfam_Transcrp_activ_Zfx/Zfy-dom pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ENSG00000147180 tier1 26 0 0.00 7 10 58.82 ZNF747 0 genome.wustl.edu 37 16 30544043 30544043 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 16 30544043 30544043 C T SNP ZNF747 ENST00000535210 human ensembl 74_37 -1 known missense c.770 p.R257H 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF747 HGNC ENSG00000169955 tier1 - - 87 0 0.00 42 40 48.78 ZNF782 0 genome.wustl.edu 37 9 99581848 99581848 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 9 99581848 99581848 G T SNP ZNF782 ENST00000481138 human ensembl 74_37 -1 known missense c.457 p.P153T 0.002 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 ZNF782 HGNC ENSG00000196597 tier1 - - 89 0 0.00 79 5 5.95 ZNF789 0 genome.wustl.edu 37 7 99084704 99084705 + Frame_Shift_Ins INS - - A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 99084704 99084705 - A INS ZNF789 ENST00000331410 human ensembl 74_37 +1 known frame_shift_ins c.871_872 p.T293fs 0.985:0.272 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF789 HGNC ENSG00000198556 tier1 23 0 0.00 14 7 33.33 ZNF791 0 genome.wustl.edu 37 19 12738936 12738936 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 12738936 12738936 G T SNP ZNF791 ENST00000343325 human ensembl 74_37 +1 known missense c.593 p.S198I 0.009 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 ZNF791 HGNC ENSG00000173875 tier1 - - 67 0 0.00 84 6 6.67 ZNF804A 0 genome.wustl.edu 37 2 185803528 185803528 + Silent SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 185803528 185803528 C A SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known silent c.3405 p.I1135 0.878 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 tier1 - - 35 0 0.00 12 14 53.85 ZNF814 0 genome.wustl.edu 37 19 58361246 58361246 + RNA SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 58361246 58361246 C T SNP ZNF814 ENST00000597652 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF814 HGNC ENSG00000204514 tier1 - - 32 0 0.00 15 4 21.05 ZNF814 0 genome.wustl.edu 37 19 58361249 58361249 + RNA SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 58361249 58361249 T C SNP ZNF814 ENST00000597652 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF814 HGNC ENSG00000204514 tier1 - - 31 0 0.00 15 4 21.05 ZNF831 0 genome.wustl.edu 37 20 57766219 57766220 + Frame_Shift_Ins INS - - C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 57766219 57766220 - C INS ZNF831 ENST00000371030 human ensembl 74_37 +1 novel frame_shift_ins c.145_146 p.T52fs 0.658:0.643 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 tier1 44 0 0.00 22 7 24.14 ZNF831 0 genome.wustl.edu 37 20 57766219 57766220 + Frame_Shift_Ins INS - - CC TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 20 57766219 57766220 - CC INS ZNF831 ENST00000371030 human ensembl 74_37 +1 novel frame_shift_ins c.145_146 p.T52fs 0.658:0.643 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 tier1 44 0 0.00 26 3 10.34 ZNF836 0 genome.wustl.edu 37 19 52659253 52659253 + Missense_Mutation SNP C C A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 52659253 52659253 C A SNP ZNF836 ENST00000322146 human ensembl 74_37 -1 known missense c.1683 p.K561N 0.122 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF836 HGNC ENSG00000196267 tier1 - - 68 0 0.00 47 27 36.49 ZNF839 0 genome.wustl.edu 37 14 102802052 102802052 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 14 102802052 102802052 T - DEL ZNF839 ENST00000442396 human ensembl 74_37 +1 known frame_shift_del c.1536 p.F514fs 0.519 NULL pfscan_Znf_C2H2 - no_errors ZNF839 HGNC ENSG00000022976 tier1 146 0 0.00 95 19 16.67 ZNF90 0 genome.wustl.edu 37 19 20228702 20228702 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 20228702 20228702 A - DEL ZNF90 ENST00000418063 human ensembl 74_37 +1 known frame_shift_del c.339 p.G116fs 0.054 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 ZNF90 HGNC ENSG00000213988 tier1 68 0 0.00 67 29 30.21 ZNF91 0 genome.wustl.edu 37 19 23543033 23543033 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 23543033 23543033 G T SNP ZNF91 ENST00000300619 human ensembl 74_37 -1 known silent c.2748 p.G916 0.978 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF91 HGNC ENSG00000167232 tier1 - - 32 0 0.00 24 23 48.94 ZNHIT1 0 genome.wustl.edu 37 7 100865942 100865942 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 7 100865942 100865942 G A SNP ZNHIT1 ENST00000305105 human ensembl 74_37 +1 known missense c.80 p.R27H 1.000 NULL pfam_Znf_HIT,pfscan_Znf_HIT - no_errors ZNHIT1 HGNC ENSG00000106400 tier1 rs200966635 - 95 0 0.00 71 6 7.79 ZRANB1 0 genome.wustl.edu 37 10 126673561 126673561 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 10 126673561 126673561 A - DEL ZRANB1 ENST00000359653 human ensembl 74_37 +1 known frame_shift_del c.2127 p.*709fs 0.994 NULL pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2 - no_errors ZRANB1 HGNC ENSG00000019995 tier1 24 0 0.00 12 6 33.33 ZRANB2 0 genome.wustl.edu 37 1 71531565 71531566 + RNA INS - - T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 71531565 71531566 - T INS ZRANB2 ENST00000477096 human ensembl 74_37 -1 known rna NULL NULL 0.999:0.998 - - - no_errors ZRANB2 HGNC ENSG00000132485 tier1 27 0 0.00 21 9 30.00 ZRANB3 0 genome.wustl.edu 37 2 135982051 135982051 + Missense_Mutation SNP T T C TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 2 135982051 135982051 T C SNP ZRANB3 ENST00000264159 human ensembl 74_37 -1 known missense c.2195 p.D732G 0.875 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ZRANB3 HGNC ENSG00000121988 tier1 - - 63 0 0.00 40 17 29.82 ZSCAN1 0 genome.wustl.edu 37 19 58549418 58549418 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 19 58549418 58549418 C T SNP ZSCAN1 ENST00000282326 human ensembl 74_37 +1 known missense c.214 p.R72C 0.001 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN1 HGNC ENSG00000152467 tier1 - - 44 0 0.00 19 25 56.82 ZYG11A 0 genome.wustl.edu 37 1 53322739 53322739 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a040342e-679b-48af-a607-1f1b98eaa24d 078e053e-e15f-4a28-8c24-8a82eb59a338 1 53322739 53322739 A - DEL ZYG11A ENST00000371528 human ensembl 74_37 +1 known frame_shift_del c.326 p.A111fs 0.974 NULL superfamily_ARM-type_fold - no_errors ZYG11A HGNC ENSG00000203995 tier1 44 0 0.00 20 8 28.57