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 A2M 0 genome.wustl.edu 37 12 9252079 9252079 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 9252079 9252079 G A SNP A2M ENST00000318602 human ensembl 74_37 -1 known silent c.1599 p.D533 0.998 pfam_A2M_N_2 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,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 tier1 - - 29 0 0.00 30 12 28.57 AADACL3 0 genome.wustl.edu 37 1 12785494 12785494 + Frame_Shift_Del DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 12785494 12785494 G - DEL AADACL3 ENST00000359318 human ensembl 74_37 +1 known frame_shift_del c.584 p.C195fs 0.040 NULL pfam_AB_hydrolase_3 - no_errors AADACL3 HGNC ENSG00000188984 tier1 31 0 0.00 21 17 44.74 AAK1 0 genome.wustl.edu 37 2 69741763 69741765 + In_Frame_Del DEL TGC TGC - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 69741763 69741765 TGC - DEL AAK1 ENST00000409085 human ensembl 74_37 -1 known in_frame_del c.1616_1614 p.Q542in_frame_del 1.000:1.000:0.998 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 - no_errors AAK1 HGNC ENSG00000115977 tier1 77 0 0.00 103 14 11.97 AARS2 0 genome.wustl.edu 37 6 44269193 44269193 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 44269193 44269193 C - DEL AARS2 ENST00000244571 human ensembl 74_37 -1 known frame_shift_del c.2607 p.T871fs 0.008 tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS2 HGNC ENSG00000124608 tier1 54 0 0.00 41 18 30.51 ABCA1 0 genome.wustl.edu 37 9 107587912 107587912 + RNA SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 107587912 107587912 A G SNP ABCA1 ENST00000494467 human ensembl 74_37 -1 known rna NULL NULL 0.334 - - - no_errors ABCA1 HGNC ENSG00000165029 tier1 - - 41 0 0.00 8 21 72.41 ABCA4 0 genome.wustl.edu 37 1 94506867 94506867 + Nonsense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 94506867 94506867 G T SNP ABCA4 ENST00000370225 human ensembl 74_37 -1 known nonsense c.3420 p.C1140* 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 tier1 - - 72 0 0.00 42 58 58.00 ABCB1 0 genome.wustl.edu 37 7 87214954 87214954 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 87214954 87214954 C T SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known missense c.160 p.G54R 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 tier1 - - 35 0 0.00 19 6 24.00 ABCB4 0 genome.wustl.edu 37 7 87074282 87074282 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 87074282 87074282 A - DEL ABCB4 ENST00000265723 human ensembl 74_37 -1 known frame_shift_del c.1015 p.S339fs 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB4 HGNC ENSG00000005471 tier1 25 0 0.00 35 15 30.00 ABCC11 0 genome.wustl.edu 37 16 48218359 48218359 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 48218359 48218359 C T SNP ABCC11 ENST00000356608 human ensembl 74_37 -1 known missense c.3250 p.V1084M 0.074 pfam_ABC_transptr_TM_dom,superfamily_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 ABCC11 HGNC ENSG00000121270 tier1 - - 35 0 0.00 43 12 21.82 ABCC4 0 genome.wustl.edu 37 13 95696016 95696016 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 13 95696016 95696016 T - DEL ABCC4 ENST00000376887 human ensembl 74_37 -1 known frame_shift_del c.3655 p.I1219fs 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like 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_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 tier1 46 0 0.00 66 13 16.46 ABCD2 0 genome.wustl.edu 37 12 39947725 39947725 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 39947725 39947725 C T SNP ABCD2 ENST00000308666 human ensembl 74_37 -1 known missense c.2212 p.E738K 0.407 NULL pfam_ABC_Peroxi_TM,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 ABCD2 HGNC ENSG00000173208 tier1 - - 46 0 0.00 15 21 58.33 ABHD16B 0 genome.wustl.edu 37 20 62494101 62494101 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 62494101 62494101 C T SNP ABHD16B ENST00000369916 human ensembl 74_37 +1 known missense c.1208 p.A403V 0.002 NULL pfam_AB_hydrolase_1 - no_errors ABHD16B HGNC ENSG00000183260 28 0 0.00 39 6 13.33 ABLIM1 0 genome.wustl.edu 37 10 116203872 116203872 + Silent SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 116203872 116203872 A G SNP ABLIM1 ENST00000277895 human ensembl 74_37 -1 known silent c.1849 p.L617 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 - - 41 0 0.00 33 15 31.25 ABR 0 genome.wustl.edu 37 17 910416 910416 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 910416 910416 C T SNP ABR ENST00000302538 human ensembl 74_37 -1 known missense c.2479 p.V827I 1.000 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors ABR HGNC ENSG00000159842 tier1 rs111816976 - 26 0 0.00 28 25 47.17 ACAT1 0 genome.wustl.edu 37 11 108004588 108004588 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 108004588 108004588 T - DEL ACAT1 ENST00000265838 human ensembl 74_37 +1 known frame_shift_del c.162 p.L56fs 1.000 pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAT1 HGNC ENSG00000075239 tier1 69 0 0.00 78 19 19.59 ACOX3 0 genome.wustl.edu 37 4 8398737 8398737 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 8398737 8398737 C T SNP ACOX3 ENST00000356406 human ensembl 74_37 -1 known missense c.983 p.R328H 0.997 pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX3 HGNC ENSG00000087008 tier1 - - 54 0 0.00 34 52 60.47 ACSM2A 0 genome.wustl.edu 37 16 20491948 20491948 + Silent SNP A A C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 20491948 20491948 A C SNP ACSM2A ENST00000219054 human ensembl 74_37 +1 known silent c.1335 p.G445 0.999 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ENSG00000183747 tier1 - - 57 0 0.00 33 56 62.92 ACSS2 0 genome.wustl.edu 37 20 33496668 33496671 + RNA DEL AAAA AAAA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 33496668 33496671 AAAA - DEL ACSS2 ENST00000497927 human ensembl 74_37 +1 known rna NULL NULL 0.005:0.007:0.007:0.006 - - - no_errors ACSS2 HGNC ENSG00000131069 tier1 29 0 0.00 41 22 34.92 ACVR2A 0 genome.wustl.edu 37 2 148677866 148677866 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 148677866 148677866 G A SNP ACVR2A ENST00000241416 human ensembl 74_37 +1 known missense c.1030 p.A344T 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,prints_TGFB_receptor 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 - - 18 0 0.00 19 8 29.63 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 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 44 0 0.00 52 22 29.73 ADAD1 0 genome.wustl.edu 37 4 123342535 123342535 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 123342535 123342535 A G SNP ADAD1 ENST00000296513 human ensembl 74_37 +1 known missense c.1607 p.H536R 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 - - 35 0 0.00 17 7 29.17 ADAM19 0 genome.wustl.edu 37 5 156946869 156946869 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 156946869 156946869 T C SNP ADAM19 ENST00000394020 human ensembl 74_37 -1 known missense c.584 p.Q195R 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_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM19 HGNC ENSG00000135074 tier1 - - 49 0 0.00 51 16 23.88 ADAM21P1 0 genome.wustl.edu 37 14 70714016 70714016 + RNA SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 70714016 70714016 G A SNP ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.174 - - - no_errors ADAM21P1 HGNC ENSG00000235812 tier1 - - 21 0 0.00 6 37 86.05 ADAM21P1 0 genome.wustl.edu 37 14 70714259 70714259 + RNA SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 70714259 70714259 A G SNP ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors ADAM21P1 HGNC ENSG00000235812 23 0 0.00 60 6 9.09 ADAM23 0 genome.wustl.edu 37 2 207460860 207460861 + Frame_Shift_Ins INS - - C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 207460860 207460861 - C INS ADAM23 ENST00000264377 human ensembl 74_37 +1 known frame_shift_ins c.2333_2334 p.K781fs 0.005:0.000 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 40 0 0.00 63 15 19.23 ADAMTS15 0 genome.wustl.edu 37 11 130343039 130343039 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 130343039 130343039 C A SNP ADAMTS15 ENST00000299164 human ensembl 74_37 +1 known missense c.2176 p.L726M 1.000 pfam_ADAM_spacer1 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_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8 - no_errors ADAMTS15 HGNC ENSG00000166106 tier1 - - 26 0 0.00 42 15 26.32 ADAMTSL1 0 genome.wustl.edu 37 9 18680349 18680350 + Frame_Shift_Ins INS - - G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 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 28 0 0.00 59 13 18.06 ADAP2 0 genome.wustl.edu 37 17 29261308 29261308 + Missense_Mutation SNP A A C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 29261308 29261308 A C SNP ADAP2 ENST00000330889 human ensembl 74_37 +1 known missense c.503 p.K168T 0.935 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_Pleckstrin_homology,smart_ArfGAP,smart_Pleckstrin_homology,prints_ArfGAP,pfscan_Pleckstrin_homology,pfscan_ArfGAP - no_errors ADAP2 HGNC ENSG00000184060 tier1 - - 37 0 0.00 22 34 60.71 ADC 0 genome.wustl.edu 37 1 33562406 33562406 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 33562406 33562406 C T SNP ADC ENST00000373441 human ensembl 74_37 +1 known silent c.852 p.A284 0.998 superfamily_Ala_racemase/Decarboxylase_C,prints_Orn/DAP/Arg_de-COase pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase - no_errors ADC HGNC ENSG00000142920 tier1 - - 36 0 0.00 58 35 37.63 ADH7 0 genome.wustl.edu 37 4 100340170 100340170 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 100340170 100340170 G A SNP ADH7 ENST00000209665 human ensembl 74_37 -1 known missense c.970 p.R324C 0.996 pfam_ADH_C pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like - no_errors ADH7 HGNC ENSG00000196344 tier1 - - 52 0 0.00 27 13 32.50 ADNP 0 genome.wustl.edu 37 20 49508204 49508204 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 49508204 49508204 T - DEL ADNP ENST00000349014 human ensembl 74_37 -1 known frame_shift_del c.3047 p.K1016fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 tier1 71 0 0.00 50 48 48.98 AFAP1L2 0 genome.wustl.edu 37 10 116054776 116054777 + RNA DEL AA AA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 116054776 116054777 AA - DEL AFAP1L2 ENST00000491814 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors AFAP1L2 HGNC ENSG00000169129 tier1 22 0 0.00 31 5 13.89 AGL 0 genome.wustl.edu 37 1 100378027 100378028 + Frame_Shift_Ins INS - - A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 100378027 100378028 - A INS AGL ENST00000294724 human ensembl 74_37 +1 known frame_shift_ins c.3903_3904 p.N1303fs 0.021:0.023 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 56 0 0.00 34 28 45.16 AGPAT1 0 genome.wustl.edu 37 6 32138784 32138784 + Silent SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 32138784 32138784 C A SNP AGPAT1 ENST00000336984 human ensembl 74_37 -1 known silent c.264 p.G88 1.000 pfam_Plipid/glycerol_acylTrfase,tigrfam_AGP_acyltrans pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,tigrfam_AGP_acyltrans - no_errors AGPAT1 HGNC ENSG00000204310 tier1 - - 29 0 0.00 20 10 33.33 AHNAK2 0 genome.wustl.edu 37 14 105411968 105411968 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 105411968 105411968 T C SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.9820 p.M3274V 0.001 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 81 0 0.00 192 13 6.34 AHNAK2 0 genome.wustl.edu 37 14 105411976 105411976 + Missense_Mutation SNP T T A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 105411976 105411976 T A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.9812 p.Q3271L 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 73 0 0.00 188 11 5.53 AHNAK2 0 genome.wustl.edu 37 14 105412925 105412925 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 105412925 105412925 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.8863 p.L2955 0.048 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 66 0 0.00 148 20 11.90 AHNAK2 0 genome.wustl.edu 37 14 105412929 105412929 + Silent SNP T T G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 105412929 105412929 T G SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.8859 p.A2953 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 70 0 0.00 144 23 13.77 AHNAK2 0 genome.wustl.edu 37 14 105412934 105412934 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 105412934 105412934 T C SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.8854 p.R2952G 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 65 0 0.00 136 21 13.38 AHNAK2 0 genome.wustl.edu 37 14 105412935 105412935 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 105412935 105412935 C T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.8853 p.P2951 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 66 0 0.00 140 19 11.88 AHSA2 0 genome.wustl.edu 37 2 61406203 61406203 + RNA SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 61406203 61406203 C T SNP AHSA2 ENST00000489653 human ensembl 74_37 +1 known rna NULL NULL 0.606 - - - no_errors AHSA2 HGNC ENSG00000173209 tier1 - - 30 0 0.00 43 22 33.85 AIMP2 0 genome.wustl.edu 37 7 6062967 6062967 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 6062967 6062967 C T SNP AIMP2 ENST00000223029 human ensembl 74_37 +1 known missense c.608 p.T203M 0.972 NULL superfamily_Glutathione-S-Trfase_C-like - no_errors AIMP2 HGNC ENSG00000106305 tier1 - - 65 0 0.00 62 40 39.22 AK9 0 genome.wustl.edu 37 6 109850199 109850201 + In_Frame_Del DEL AAC AAC - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AAC AAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 109850199 109850201 AAC - DEL AK9 ENST00000355283 human ensembl 74_37 -1 novel in_frame_del c.885_883 p.V295in_frame_del 0.003:0.000:0.000 NULL pfam_Adenylate_kin,pfam_YHS_dom,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase - no_errors AK9 HGNC ENSG00000155085 tier1 48 0 0.00 54 5 8.47 AKAP7 0 genome.wustl.edu 37 6 131481276 131481276 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 131481276 131481276 A - DEL AKAP7 ENST00000368123 human ensembl 74_37 +1 known frame_shift_del c.163 p.K57fs 0.449 pfam_Kinase-A_anchor_nucl_local_sig pfam_Kinase-A_anchor_nucl_local_sig,pfam_Kinase-A_anchor_RI-RII-bd_dom,superfamily_RNA_ligase/cNuc_Pdiesterase - no_errors AKAP7 HGNC ENSG00000118507 tier1 43 0 0.00 39 10 20.41 AKT1 0 genome.wustl.edu 37 14 105246502 105246502 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 105246502 105246502 C T SNP AKT1 ENST00000349310 human ensembl 74_37 -1 known missense c.98 p.G33D 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom - no_errors AKT1 HGNC ENSG00000142208 tier1 - - 41 0 0.00 103 12 10.43 ALDOB 0 genome.wustl.edu 37 9 104189797 104189797 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 104189797 104189797 G A SNP ALDOB ENST00000374855 human ensembl 74_37 -1 known silent c.507 p.N169 0.521 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOB HGNC ENSG00000136872 tier1 - - 25 0 0.00 51 18 26.09 ALOX12B 0 genome.wustl.edu 37 17 7979514 7979514 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 7979514 7979514 G A SNP ALOX12B ENST00000319144 human ensembl 74_37 -1 known missense c.1511 p.A504V 0.210 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C,prints_LipOase_mml - no_errors ALOX12B HGNC ENSG00000179477 tier1 rs141010860 - 28 0 0.00 24 26 52.00 ALPP 0 genome.wustl.edu 37 2 233245388 233245388 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 233245388 233245388 C T SNP ALPP ENST00000392027 human ensembl 74_37 +1 known silent c.921 p.D307 0.994 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPP HGNC ENSG00000163283 tier1 - - 77 0 0.00 106 25 19.08 AMY1C 0 genome.wustl.edu 37 1 104297180 104297180 + Missense_Mutation SNP A A T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 104297180 104297180 A T SNP AMY1C ENST00000370079 human ensembl 74_37 +1 known missense c.938 p.N313I 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,prints_Alpha_amylase pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY1C HGNC ENSG00000187733 tier1 rs200267405 - 131 0 0.00 204 27 11.69 AMY2A 0 genome.wustl.edu 37 1 104162312 104162312 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 104162312 104162312 T C SNP AMY2A ENST00000414303 human ensembl 74_37 +1 known missense c.650 p.M217T 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,prints_Alpha_amylase pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2A HGNC ENSG00000243480 tier1 - - 277 0 0.00 278 52 15.71 ANAPC15 0 genome.wustl.edu 37 11 71822269 71822269 + Silent SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 71822269 71822269 A G SNP ANAPC15 ENST00000227618 human ensembl 74_37 -1 known silent c.54 p.F18 1.000 NULL NULL - no_errors ANAPC15 HGNC ENSG00000110200 tier1 - - 57 0 0.00 65 32 32.99 ANKH 0 genome.wustl.edu 37 5 14758594 14758594 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 14758594 14758594 C T SNP ANKH ENST00000284268 human ensembl 74_37 -1 known missense c.427 p.A143T 1.000 pfam_ANKH pfam_ANKH - no_errors ANKH HGNC ENSG00000154122 tier1 - - 24 0 0.00 108 20 15.62 ANKRD20A11P 0 genome.wustl.edu 37 21 15311696 15311698 + RNA DEL TTG TTG - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TTG TTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 21 15311696 15311698 TTG - DEL ANKRD20A11P ENST00000428576 human ensembl 74_37 -1 known rna NULL NULL 0.251:0.227:0.203 - - - no_errors ANKRD20A11P HGNC ENSG00000215559 tier1 81 0 0.00 38 26 40.62 ANKRD20A19P 0 genome.wustl.edu 37 13 24515468 24515468 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 13 24515468 24515468 T - DEL ANKRD20A19P ENST00000420143 human ensembl 74_37 -1 known rna NULL NULL 0.055 - - - no_errors ANKRD20A19P HGNC ENSG00000196593 tier1 101 0 0.00 118 21 15.11 ANKRD26 0 genome.wustl.edu 37 10 27332391 27332391 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 27332391 27332391 T C SNP ANKRD26 ENST00000436985 human ensembl 74_37 -1 known missense c.2173 p.M725V 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 - - 32 0 0.00 7 22 75.86 ANKRD28 0 genome.wustl.edu 37 3 15765962 15765962 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 15765962 15765962 T C SNP ANKRD28 ENST00000383777 human ensembl 74_37 -1 known missense c.719 p.Y240C 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD28 HGNC ENSG00000206560 tier1 - - 31 0 0.00 9 21 70.00 ANKRD30A 0 genome.wustl.edu 37 10 37433982 37433982 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 37433982 37433982 C T SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.1285 p.R429W 0.075 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 37 0 0.00 29 2 6.45 ANKRD36BP2 0 genome.wustl.edu 37 2 89103911 89103911 + RNA SNP T T G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 89103911 89103911 T G SNP ANKRD36BP2 ENST00000393515 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors ANKRD36BP2 HGNC ENSG00000230006 tier1 - - 118 0 0.00 120 42 25.77 ANKRD42 0 genome.wustl.edu 37 11 82935967 82935967 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 82935967 82935967 G A SNP ANKRD42 ENST00000393392 human ensembl 74_37 +1 known silent c.573 p.T191 0.074 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 ANKRD42 HGNC ENSG00000137494 tier1 rs145591736 - 29 0 0.00 26 9 25.71 ANKRD42 0 genome.wustl.edu 37 11 82966931 82966931 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 82966931 82966931 A - DEL ANKRD42 ENST00000260047 human ensembl 74_37 +1 putative frame_shift_del c.1509 p.K506fs 0.991 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 48 0 0.00 39 3 7.14 ANP32BP1 0 genome.wustl.edu 37 15 75614651 75614651 + RNA SNP T T A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 15 75614651 75614651 T A SNP ANP32BP1 ENST00000564205 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ANP32BP1 HGNC ENSG00000259790 tier1 - - 71 0 0.00 17 58 77.33 ANXA7 0 genome.wustl.edu 37 10 75135834 75135836 + RNA DEL AAA AAA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 75135834 75135836 AAA - DEL ANXA7 ENST00000463788 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.004:0.005 - - - no_errors ANXA7 HGNC ENSG00000138279 tier1 19 0 0.00 14 12 46.15 AP1M1 0 genome.wustl.edu 37 19 16345014 16345014 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 16345014 16345014 G A SNP AP1M1 ENST00000444449 human ensembl 74_37 +1 known missense c.1214 p.R405H 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP1M1 HGNC ENSG00000072958 tier1 - - 57 0 0.00 71 46 39.32 AP4B1 0 genome.wustl.edu 37 1 114440426 114440426 + RNA DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 114440426 114440426 C - DEL AP4B1 ENST00000462591 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AP4B1 HGNC ENSG00000134262 tier1 36 0 0.00 24 15 38.46 APOB 0 genome.wustl.edu 37 2 21234423 21234425 + In_Frame_Del DEL TGT TGT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 21234423 21234425 TGT - DEL APOB ENST00000233242 human ensembl 74_37 -1 known in_frame_del c.5317_5315 p.N1772in_frame_del 0.007:0.202:0.983 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 45 0 0.00 57 7 10.94 APOB 0 genome.wustl.edu 37 2 21260129 21260129 + Splice_Site SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 21260129 21260129 T C SNP APOB ENST00000233242 human ensembl 74_37 -1 known splice_site c.538-2 e6-2 1.000 - - - no_errors APOB HGNC ENSG00000084674 tier1 - - 58 0 0.00 58 59 50.43 APOBR 0 genome.wustl.edu 37 16 28507452 28507452 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 28507452 28507452 G A SNP APOBR ENST00000564831 human ensembl 74_37 +1 known missense c.1090 p.G364R 0.000 NULL NULL - no_errors APOBR HGNC ENSG00000184730 tier1 - - 33 0 0.00 38 7 14.29 APOH 0 genome.wustl.edu 37 17 64224221 64224221 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 64224221 64224221 G A SNP APOH ENST00000205948 human ensembl 74_37 -1 known missense c.158 p.P53L 0.985 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_Sushi_2,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors APOH HGNC ENSG00000091583 tier1 - - 64 0 0.00 32 38 54.29 APPL1 0 genome.wustl.edu 37 3 57293965 57293965 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 57293965 57293965 C T SNP APPL1 ENST00000288266 human ensembl 74_37 +1 known missense c.1576 p.R526C 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom - no_errors APPL1 HGNC ENSG00000157500 tier1 - - 46 0 0.00 13 25 65.79 AQP11 0 genome.wustl.edu 37 11 77320575 77320575 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 77320575 77320575 A - DEL AQP11 ENST00000528638 human ensembl 74_37 +1 known rna NULL NULL 0.900 - - - no_errors AQP11 HGNC ENSG00000178301 tier1 17 0 0.00 23 13 36.11 AQP3 0 genome.wustl.edu 37 9 33441446 33441447 + RNA INS - - T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 33441446 33441447 - T INS AQP3 ENST00000493581 human ensembl 74_37 -1 known rna NULL NULL 0.004:0.001 - - - no_errors AQP3 HGNC ENSG00000165272 tier1 29 0 0.00 33 9 21.43 ARAP3 0 genome.wustl.edu 37 5 141052870 141052870 + RNA DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 141052870 141052870 G - DEL ARAP3 ENST00000524066 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors ARAP3 HGNC ENSG00000120318 tier1 19 0 0.00 14 6 30.00 ARC 0 genome.wustl.edu 37 8 143694918 143694918 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 143694918 143694918 G T SNP ARC ENST00000356613 human ensembl 74_37 -1 known missense c.715 p.L239M 1.000 NULL prints_Activity-reg_cytoskelet-assoc - no_errors ARC HGNC ENSG00000198576 tier1 - - 71 0 0.00 196 34 14.78 ARHGAP20 0 genome.wustl.edu 37 11 110451806 110451806 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 110451806 110451806 C T SNP ARHGAP20 ENST00000260283 human ensembl 74_37 -1 known missense c.1864 p.D622N 1.000 NULL pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom - no_errors ARHGAP20 HGNC ENSG00000137727 tier1 - - 33 0 0.00 28 20 41.67 ARHGAP21 0 genome.wustl.edu 37 10 24886394 24886394 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 24886394 24886394 T C SNP ARHGAP21 ENST00000396432 human ensembl 74_37 -1 known missense c.3316 p.R1106G 0.998 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,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 ARHGAP21 HGNC ENSG00000107863 tier1 rs199641044 - 39 0 0.00 16 21 56.76 ARHGAP23P1 0 genome.wustl.edu 37 16 33738914 33738914 + RNA SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 33738914 33738914 C T SNP ARHGAP23P1 ENST00000567025 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ARHGAP23P1 HGNC ENSG00000260781 tier1 - - 130 0 0.00 152 50 24.75 ARHGAP35 0 genome.wustl.edu 37 19 47423886 47423886 + Nonsense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 47423886 47423886 C T SNP ARHGAP35 ENST00000404338 human ensembl 74_37 +1 known nonsense c.1954 p.Q652* 1.000 NULL pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 tier1 - - 21 0 0.00 6 16 72.73 ARHGAP39 0 genome.wustl.edu 37 8 145773078 145773078 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 145773078 145773078 C T SNP ARHGAP39 ENST00000377307 human ensembl 74_37 -1 known silent c.1392 p.P464 0.055 NULL pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_dom,smart_WW_dom,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP39 HGNC ENSG00000147799 tier1 - - 46 0 0.00 184 24 11.54 ARHGAP9 0 genome.wustl.edu 37 12 57871263 57871263 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 57871263 57871263 C T SNP ARHGAP9 ENST00000356411 human ensembl 74_37 -1 known silent c.735 p.P245 0.491 superfamily_WW_dom,pfscan_WW_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP9 HGNC ENSG00000123329 tier1 - - 29 0 0.00 33 22 40.00 ARNTL 0 genome.wustl.edu 37 11 13399889 13399889 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 13399889 13399889 C A SNP ARNTL ENST00000403290 human ensembl 74_37 +1 known missense c.1420 p.P474T 1.000 NULL pfam_PAS_fold,pfam_PAS_fold_3,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors ARNTL HGNC ENSG00000133794 tier1 - - 29 0 0.00 8 27 77.14 ARPC2 0 genome.wustl.edu 37 2 219118832 219118833 + RNA DEL AA AA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 219118832 219118833 AA - DEL ARPC2 ENST00000487321 human ensembl 74_37 +1 putative rna NULL NULL 0.933:0.940 - - - no_errors ARPC2 HGNC ENSG00000163466 tier1 18 0 0.00 25 13 34.21 ARPC5 0 genome.wustl.edu 37 1 183599769 183599769 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 183599769 183599769 G A SNP ARPC5 ENST00000294742 human ensembl 74_37 -1 known missense c.229 p.R77W 1.000 pfam_ARP2/3_p16_Arc,superfamily_ARP2/3_p16_Arc pfam_ARP2/3_p16_Arc,superfamily_ARP2/3_p16_Arc - no_errors ARPC5 HGNC ENSG00000162704 tier1 - - 24 0 0.00 21 6 22.22 ARSI 0 genome.wustl.edu 37 5 149677873 149677873 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 149677873 149677873 C T SNP ARSI ENST00000328668 human ensembl 74_37 -1 known missense c.614 p.G205D 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSI HGNC ENSG00000183876 tier1 - - 17 0 0.00 13 35 72.92 ARVCF 0 genome.wustl.edu 37 22 19961708 19961708 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 22 19961708 19961708 G A SNP ARVCF ENST00000263207 human ensembl 74_37 -1 known missense c.2015 p.T672M 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ENSG00000099889 tier1 - - 39 0 0.00 30 27 47.37 ASAP2 0 genome.wustl.edu 37 2 9491025 9491025 + Splice_Site SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 9491025 9491025 G A SNP ASAP2 ENST00000281419 human ensembl 74_37 +1 known splice_site c.1111+1 e12+1 1.000 - - - no_errors ASAP2 HGNC ENSG00000151693 tier1 - - 36 0 0.00 23 22 48.89 ASB16 0 genome.wustl.edu 37 17 42249535 42249535 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 42249535 42249535 C T SNP ASB16 ENST00000293414 human ensembl 74_37 +1 known silent c.423 p.V141 0.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB16 HGNC ENSG00000161664 tier1 - - 28 0 0.00 38 15 28.30 ASXL1 0 genome.wustl.edu 37 20 30954215 30954215 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 30954215 30954215 T C SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known missense c.86 p.M29T 1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 tier1 - - 59 0 0.00 67 55 45.08 ASXL1 0 genome.wustl.edu 37 20 31022442 31022442 + Frame_Shift_Del DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 31022442 31022442 G - DEL ASXL1 ENST00000375687 human ensembl 74_37 +1 known frame_shift_del c.1927 p.G645fs 1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 tier1 49 0 0.00 67 26 27.96 ATAD2 0 genome.wustl.edu 37 8 124368685 124368685 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 124368685 124368685 A - DEL ATAD2 ENST00000287394 human ensembl 74_37 -1 known frame_shift_del c.1590 p.F530fs 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase 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 19 0 0.00 35 17 32.69 ATF4P4 0 genome.wustl.edu 37 11 113660924 113660924 + RNA DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 113660924 113660924 C - DEL ATF4P4 ENST00000393544 human ensembl 74_37 +1 known rna NULL NULL 0.993 - - - no_errors ATF4P4 HGNC ENSG00000256167 tier1 59 0 0.00 65 16 19.75 ATN1 0 genome.wustl.edu 37 12 7045897 7045897 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 7045897 7045897 G A SNP ATN1 ENST00000356654 human ensembl 74_37 +1 known silent c.1467 p.Q489 0.700 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 32 0 0.00 49 13 20.63 ATN1 0 genome.wustl.edu 37 12 7045933 7045933 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 7045933 7045933 G T SNP ATN1 ENST00000356654 human ensembl 74_37 +1 known missense c.1503 p.Q501H 0.002 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 30 0 0.00 63 5 7.14 ATP11B 0 genome.wustl.edu 37 3 182635844 182635844 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 182635844 182635844 C T SNP ATP11B ENST00000323116 human ensembl 74_37 +1 known silent c.3486 p.N1162 1.000 NULL 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 ATP11B HGNC ENSG00000058063 tier1 - - 64 0 0.00 106 11 9.40 ATP2A2 0 genome.wustl.edu 37 12 110777173 110777173 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 110777173 110777173 C T SNP ATP2A2 ENST00000539276 human ensembl 74_37 +1 known missense c.1507 p.P503S 1.000 superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Ca-transp_IIA 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 ATP2A2 HGNC ENSG00000174437 tier1 - - 25 0 0.00 11 22 66.67 ATP8B3 0 genome.wustl.edu 37 19 1796768 1796768 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 1796768 1796768 C A SNP ATP8B3 ENST00000539485 human ensembl 74_37 -1 known missense c.1695 p.W565C 0.996 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,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 ATP8B3 HGNC ENSG00000130270 tier1 - - 18 0 0.00 28 17 37.78 ATRNL1 0 genome.wustl.edu 37 10 117061383 117061383 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 117061383 117061383 C T SNP ATRNL1 ENST00000355044 human ensembl 74_37 +1 known missense c.2648 p.A883V 1.000 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 tier1 rs140372621 - 36 0 0.00 40 16 28.07 ATRX 0 genome.wustl.edu 37 X 76761749 76761749 + RNA SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 X 76761749 76761749 A G SNP ATRX ENST00000480283 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ATRX HGNC ENSG00000085224 tier1 - - 13 0 0.00 18 13 41.94 B3GNT4 0 genome.wustl.edu 37 12 122691380 122691380 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 122691380 122691380 G A SNP B3GNT4 ENST00000324189 human ensembl 74_37 +1 known silent c.582 p.T194 0.018 pfam_Glyco_trans_31 pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT4 HGNC ENSG00000176383 tier1 - - 34 0 0.00 24 26 52.00 BAI3 0 genome.wustl.edu 37 6 70048831 70048831 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 70048831 70048831 G T SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.3212 p.G1071V 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like 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_CUB_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 BAI3 HGNC ENSG00000135298 tier1 - - 35 0 0.00 35 6 14.63 BAZ2B 0 genome.wustl.edu 37 2 160317645 160317645 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 160317645 160317645 T - DEL BAZ2B ENST00000483316 human ensembl 74_37 -1 known rna NULL NULL 0.155 - - - no_errors BAZ2B HGNC ENSG00000123636 tier1 19 0 0.00 19 6 24.00 BBS2 0 genome.wustl.edu 37 16 56532485 56532485 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 56532485 56532485 A - DEL BBS2 ENST00000566410 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors BBS2 HGNC ENSG00000125124 tier1 51 0 0.00 48 28 36.84 BCCIP 0 genome.wustl.edu 37 10 127520211 127520212 + RNA INS - - T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 127520211 127520212 - T INS BCCIP ENST00000463330 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors BCCIP HGNC ENSG00000107949 tier1 15 0 0.00 7 4 36.36 BCL11A 0 genome.wustl.edu 37 2 60687186 60687187 + RNA INS - - A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 60687186 60687187 - A INS BCL11A ENST00000477659 human ensembl 74_37 -1 known rna NULL NULL 0.505:1.000 - - - no_errors BCL11A HGNC ENSG00000119866 tier1 27 0 0.00 12 12 50.00 BCL9L 0 genome.wustl.edu 37 11 118772427 118772427 + Silent SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 118772427 118772427 A G SNP BCL9L ENST00000334801 human ensembl 74_37 -1 known silent c.2025 p.R675 0.044 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 tier1 - - 26 0 0.00 28 22 44.00 BCL9L 0 genome.wustl.edu 37 11 118779083 118779083 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 118779083 118779083 G T SNP BCL9L ENST00000334801 human ensembl 74_37 -1 known missense c.308 p.P103H 0.786 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 tier1 - - 27 0 0.00 29 21 42.00 BCL9L 0 genome.wustl.edu 37 11 118769840 118769840 + Missense_Mutation SNP G G C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 118769840 118769840 G C SNP BCL9L ENST00000334801 human ensembl 74_37 -1 known missense c.3784 p.P1262A 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 8 0 0.00 10 3 23.08 BCMO1 0 genome.wustl.edu 37 16 81304016 81304016 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 81304016 81304016 G A SNP BCMO1 ENST00000258168 human ensembl 74_37 +1 known missense c.1096 p.D366N 0.994 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCMO1 HGNC ENSG00000135697 tier1 - - 17 0 0.00 28 14 33.33 BEGAIN 0 genome.wustl.edu 37 14 101004530 101004530 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 101004530 101004530 C - DEL BEGAIN ENST00000355173 human ensembl 74_37 -1 known frame_shift_del c.1558 p.D520fs 0.003 NULL superfamily_Prefoldin - no_errors BEGAIN HGNC ENSG00000183092 tier1 8 0 0.00 16 5 23.81 BIN1 0 genome.wustl.edu 37 2 127825800 127825801 + Frame_Shift_Ins INS - - G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 127825800 127825801 - G INS BIN1 ENST00000316724 human ensembl 74_37 -1 known frame_shift_ins c.551_550 p.Q184fs 1.000:1.000 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_Amphiphysin,prints_Amphiphysin_2,prints_SH3_domain - no_errors BIN1 HGNC ENSG00000136717 tier1 20 0 0.00 41 23 35.94 BLVRA 0 genome.wustl.edu 37 7 43846645 43846645 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 43846645 43846645 G T SNP BLVRA ENST00000265523 human ensembl 74_37 +1 known missense c.702 p.K234N 0.993 pfam_Biliverdin_Rdtase_cat,pirsf_Biliverdin_Rdtase_A pfam_Biliverdin_Rdtase_cat,pfam_Oxidoreductase_N,pirsf_Biliverdin_Rdtase_A - no_errors BLVRA HGNC ENSG00000106605 tier1 - - 39 0 0.00 29 19 39.58 BMS1P20 0 genome.wustl.edu 37 22 22661174 22661174 + RNA DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 22 22661174 22661174 C - DEL BMS1P20 ENST00000426066 human ensembl 74_37 +1 known rna NULL NULL 0.876 - - - no_errors BMS1P20 HGNC ENSG00000236850 tier1 77 0 0.00 103 30 22.56 BMS1P5 0 genome.wustl.edu 37 10 48930126 48930126 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 48930126 48930126 A 0 DEL BMS1P5 ENST00000449800 human ensembl 74_37 -1 known rna NULL NULL 0.010 - - - no_errors BMS1P5 HGNC ENSG00000204164 19 0 0.00 19 16 45.71 BNIP3P1 0 genome.wustl.edu 37 14 28733715 28733715 + RNA SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 28733715 28733715 G A SNP BNIP3P1 ENST00000550043 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors BNIP3P1 HGNC ENSG00000197358 tier1 - - 9 0 0.00 11 11 50.00 BOD1L1 0 genome.wustl.edu 37 4 13606084 13606084 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 13606084 13606084 T C SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known missense c.2440 p.I814V 1.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 tier1 - - 46 0 0.00 14 31 68.89 BPIFB1 0 genome.wustl.edu 37 20 31876669 31876669 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 31876669 31876669 G A SNP BPIFB1 ENST00000253354 human ensembl 74_37 +1 known missense c.238 p.V80I 0.000 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form - no_errors BPIFB1 HGNC ENSG00000125999 tier1 - - 35 0 0.00 33 28 45.16 BRCA2 0 genome.wustl.edu 37 13 32913836 32913837 + Frame_Shift_Ins INS - - A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 13 32913836 32913837 - A INS BRCA2 ENST00000380152 human ensembl 74_37 +1 known frame_shift_ins c.5344_5345 p.N1784fs 0.000:0.000 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 33 0 0.00 29 8 21.62 BRD9 0 genome.wustl.edu 37 5 876321 876321 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 876321 876321 C A SNP BRD9 ENST00000467963 human ensembl 74_37 -1 known missense c.1278 p.Q426H 1.000 pfam_DUF3512 pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD9 HGNC ENSG00000028310 20 0 0.00 71 9 11.25 BRD9 0 genome.wustl.edu 37 5 878486 878486 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 878486 878486 C T SNP BRD9 ENST00000467963 human ensembl 74_37 -1 known missense c.1255 p.V419M 0.983 pfam_DUF3512 pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD9 HGNC ENSG00000028310 32 0 0.00 124 9 6.72 BRPF1 0 genome.wustl.edu 37 3 9785476 9785476 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 9785476 9785476 G A SNP BRPF1 ENST00000383829 human ensembl 74_37 +1 known silent c.2526 p.R842 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 tier1 - - 38 0 0.00 47 16 25.40 BRWD3 0 genome.wustl.edu 37 X 79932174 79932174 + Silent SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 X 79932174 79932174 T C SNP BRWD3 ENST00000373275 human ensembl 74_37 -1 known silent c.5343 p.R1781 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 tier1 - - 12 0 0.00 9 21 70.00 BTNL10 0 genome.wustl.edu 37 1 228699644 228699644 + RNA SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 228699644 228699644 G A SNP BTNL10 ENST00000400948 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors BTNL10 HGNC ENSG00000215811 tier1 - - 27 0 0.00 18 24 57.14 BTRC 0 genome.wustl.edu 37 10 103285773 103285773 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 103285773 103285773 G A SNP BTRC ENST00000370187 human ensembl 74_37 +1 known missense c.560 p.R187Q 1.000 superfamily_F-box_dom pfam_WD40_repeat,pfam_Beta-TrCP_D,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 BTRC HGNC ENSG00000166167 tier1 - - 60 0 0.00 55 21 27.63 C11orf30 0 genome.wustl.edu 37 11 76256924 76256924 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 76256924 76256924 A G SNP C11orf30 ENST00000334736 human ensembl 74_37 +1 known missense c.3357 p.I1119M 1.000 NULL pfam_ENT_N,pfscan_ENT_N - no_errors C11orf30 HGNC ENSG00000158636 tier1 - - 32 0 0.00 21 15 41.67 C11orf40 0 genome.wustl.edu 37 11 4592711 4592711 + Missense_Mutation SNP T T A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 4592711 4592711 T A SNP C11orf40 ENST00000307616 human ensembl 74_37 -1 known missense c.596 p.N199I 0.006 NULL NULL - no_errors C11orf40 HGNC ENSG00000171987 74 0 0.00 84 7 7.69 C14orf169 0 genome.wustl.edu 37 14 73959704 73959706 + RNA DEL TTT TTT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 73959704 73959706 TTT - DEL C14orf169 ENST00000531973 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.001 - - - no_errors C14orf169 HGNC ENSG00000255242 tier1 26 0 0.00 39 25 39.06 C15orf27 0 genome.wustl.edu 37 15 76496546 76496546 + Missense_Mutation SNP T T A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 15 76496546 76496546 T A SNP C15orf27 ENST00000388942 human ensembl 74_37 +1 known missense c.1486 p.F496I 0.780 NULL NULL - no_errors C15orf27 HGNC ENSG00000169758 tier1 - - 27 0 0.00 11 26 70.27 C18orf61 0 genome.wustl.edu 37 18 12212029 12212029 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 18 12212029 12212029 A - DEL C18orf61 ENST00000586642 human ensembl 74_37 +1 known rna NULL NULL 0.923 - - - no_errors RP11-64C12.3 Clone_based_vega_gene ENSG00000267733 tier1 22 0 0.00 40 12 23.08 C1orf106 0 genome.wustl.edu 37 1 200870139 200870141 + In_Frame_Del DEL GGA GGA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 200870139 200870141 GGA - DEL C1orf106 ENST00000367342 human ensembl 74_37 +1 known in_frame_del c.627_629 p.E211in_frame_del 0.398:0.985:1.000 pfam_DUF3338 pfam_DUF3338 - no_errors C1orf106 HGNC ENSG00000163362 tier1 33 0 0.00 24 18 42.86 C1orf127 0 genome.wustl.edu 37 1 11008750 11008750 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 11008750 11008750 G A SNP C1orf127 ENST00000377004 human ensembl 74_37 -1 known missense c.1442 p.T481M 0.000 NULL superfamily_DNA-bd_dom_put - no_errors C1orf127 HGNC ENSG00000175262 tier1 - - 50 0 0.00 62 12 16.22 C1orf162 0 genome.wustl.edu 37 1 112019580 112019580 + RNA SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 112019580 112019580 G T SNP C1orf162 ENST00000464591 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C1orf162 HGNC ENSG00000143110 tier1 - - 32 0 0.00 30 15 33.33 C2orf42 0 genome.wustl.edu 37 2 70387883 70387883 + Nonsense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 70387883 70387883 G A SNP C2orf42 ENST00000264434 human ensembl 74_37 -1 known nonsense c.1390 p.R464* 1.000 NULL NULL - no_errors C2orf42 HGNC ENSG00000115998 tier1 - - 60 0 0.00 45 35 43.75 C2orf62 0 genome.wustl.edu 37 2 219222406 219222406 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 219222406 219222406 G A SNP C2orf62 ENST00000289388 human ensembl 74_37 +1 known missense c.268 p.A90T 0.982 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C2orf62 HGNC ENSG00000158428 tier1 - - 55 0 0.00 42 14 25.00 C4orf21 0 genome.wustl.edu 37 4 113539992 113539992 + Silent SNP T T A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 113539992 113539992 T A SNP C4orf21 ENST00000505019 human ensembl 74_37 -1 known silent c.1206 p.V402 0.000 NULL pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase - no_errors C4orf21 HGNC ENSG00000138658 tier1 - - 39 0 0.00 19 9 32.14 C4orf29 0 genome.wustl.edu 37 4 128949844 128949844 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 128949844 128949844 G A SNP C4orf29 ENST00000398965 human ensembl 74_37 +1 known missense c.914 p.R305H 0.053 pfam_DUF2048 pfam_DUF2048 - no_errors C4orf29 HGNC ENSG00000164074 tier1 - - 20 0 0.00 11 5 31.25 C5orf42 0 genome.wustl.edu 37 5 37198930 37198931 + Frame_Shift_Ins INS - - T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 37198930 37198931 0 T INS C5orf42 ENST00000425232 human ensembl 74_37 -1 known frame_shift_ins c.3546_3545 p.N1182fs 0.003:0.889 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 23 0 0.00 64 7 9.86 C6 0 genome.wustl.edu 37 5 41181559 41181560 + Frame_Shift_Ins INS - - C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 41181559 41181560 - C INS C6 ENST00000263413 human ensembl 74_37 -1 known frame_shift_ins c.829_828 p.S276fs 0.000:0.000 NULL pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt - no_errors C6 HGNC ENSG00000039537 tier1 32 0 0.00 88 13 12.87 C6orf118 0 genome.wustl.edu 37 6 165715153 165715153 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 165715153 165715153 G A SNP C6orf118 ENST00000230301 human ensembl 74_37 -1 known missense c.658 p.R220C 0.535 superfamily_Ribonuclease/ribotoxin superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 tier1 rs140500230 - 22 0 0.00 15 16 51.61 C9orf131 0 genome.wustl.edu 37 9 35044004 35044005 + Frame_Shift_Ins INS - - A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 35044004 35044005 - A INS C9orf131 ENST00000312292 human ensembl 74_37 +1 known frame_shift_ins c.1378_1379 p.N461fs 0.083:0.084 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 tier1 11 0 0.00 14 10 41.67 CACNA1B 0 genome.wustl.edu 37 9 140941361 140941361 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 140941361 140941361 G A SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known missense c.3422 p.R1141H 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 tier1 - - 45 0 0.00 70 18 20.45 CACNA1C 0 genome.wustl.edu 37 12 2693755 2693757 + In_Frame_Del DEL GAG GAG - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 2693755 2693757 GAG - DEL CACNA1C ENST00000399634 human ensembl 74_37 +1 known in_frame_del c.2311_2313 p.E772in_frame_del 1.000:1.000:1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 tier1 21 0 0.00 39 21 35.00 CACNA1C 0 genome.wustl.edu 37 12 2693757 2693757 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 2693757 2693757 G A SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known silent c.2313 p.E771 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 21 0 0.00 37 4 9.76 CACNA1G 0 genome.wustl.edu 37 17 48701760 48701760 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 48701760 48701760 G T SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known missense c.6269 p.S2090I 1.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 25 0 0.00 45 3 6.25 CACNG3 0 genome.wustl.edu 37 16 24372735 24372735 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 24372735 24372735 C T SNP CACNG3 ENST00000005284 human ensembl 74_37 +1 known missense c.499 p.R167C 0.996 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu - no_errors CACNG3 HGNC ENSG00000006116 tier1 - - 37 0 0.00 18 34 65.38 CALCOCO1 0 genome.wustl.edu 37 12 54105819 54105819 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 54105819 54105819 C T SNP CALCOCO1 ENST00000550804 human ensembl 74_37 -1 known missense c.1985 p.R662H 1.000 NULL pfam_CoCoA - no_errors CALCOCO1 HGNC ENSG00000012822 tier1 - - 63 0 0.00 37 34 47.89 CAP2 0 genome.wustl.edu 37 6 17507510 17507510 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 17507510 17507510 C T SNP CAP2 ENST00000229922 human ensembl 74_37 +1 known silent c.411 p.S137 0.991 pfam_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_N pfam_Adenylate_cyclase-assoc_CAP_N,pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif - no_errors CAP2 HGNC ENSG00000112186 tier1 - - 70 0 0.00 38 16 29.63 CARS 0 genome.wustl.edu 37 11 3062148 3062148 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 3062148 3062148 C T SNP CARS ENST00000380525 human ensembl 74_37 -1 known missense c.433 p.A145T 1.000 pfam_Cys-tRNA/MSH_ligase,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase - no_errors CARS HGNC ENSG00000110619 tier1 - - 26 0 0.00 15 4 21.05 CASZ1 0 genome.wustl.edu 37 1 10725151 10725151 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 10725151 10725151 C A SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known missense c.494 p.R165M 0.974 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 tier1 - - 33 0 0.00 40 15 27.27 CBWD6 0 genome.wustl.edu 37 9 69238113 69238113 + RNA SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 69238113 69238113 C T SNP CBWD6 ENST00000461834 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CBWD6 HGNC ENSG00000204790 tier1 - - 195 0 0.00 246 48 16.33 CCDC110 0 genome.wustl.edu 37 4 186380035 186380035 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 186380035 186380035 A G SNP CCDC110 ENST00000307588 human ensembl 74_37 -1 known missense c.1706 p.I569T 0.158 NULL superfamily_4_helix_cytokine-like_core - no_errors CCDC110 HGNC ENSG00000168491 tier1 - - 83 0 0.00 42 24 36.36 CCDC130 0 genome.wustl.edu 37 19 13873201 13873201 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 13873201 13873201 C T SNP CCDC130 ENST00000221554 human ensembl 74_37 +1 known missense c.662 p.T221M 0.872 pfam_CWC16 pfam_CWC16 - no_errors CCDC130 HGNC ENSG00000104957 tier1 - - 26 0 0.00 36 23 38.98 CCDC148 0 genome.wustl.edu 37 2 159035476 159035476 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 159035476 159035476 C T SNP CCDC148 ENST00000283233 human ensembl 74_37 -1 known missense c.1403 p.R468H 1.000 NULL NULL - no_errors CCDC148 HGNC ENSG00000153237 tier1 - - 43 0 0.00 48 19 28.36 CCDC150 0 genome.wustl.edu 37 2 197531519 197531519 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 197531519 197531519 A - DEL CCDC150 ENST00000389175 human ensembl 74_37 +1 known frame_shift_del c.839 p.K283fs 0.374 NULL NULL - no_errors CCDC150 HGNC ENSG00000144395 tier1 31 0 0.00 21 26 55.32 CCDC175 0 genome.wustl.edu 37 14 59992099 59992100 + Frame_Shift_Ins INS - - T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 59992099 59992100 - T INS CCDC175 ENST00000281581 human ensembl 74_37 -1 known frame_shift_ins c.1896_1895 p.N632fs 0.000:0.000 NULL superfamily_Prefoldin - no_errors CCDC175 HGNC ENSG00000151838 tier1 63 0 0.00 23 47 67.14 CCDC176 0 genome.wustl.edu 37 14 74524018 74524018 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 74524018 74524018 G A SNP CCDC176 ENST00000492247 human ensembl 74_37 +1 putative silent c.267 p.S89 0.000 NULL NULL - no_errors CCDC176 HGNC ENSG00000119636 tier1 - - 22 0 0.00 7 35 83.33 CCDC18 0 genome.wustl.edu 37 1 93667516 93667516 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 93667516 93667516 A - DEL CCDC18 ENST00000557479 human ensembl 74_37 +1 known frame_shift_del c.1120 p.V377fs 1.000 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 tier1 44 0 0.00 33 20 37.74 CCDC18 0 genome.wustl.edu 37 1 93682272 93682273 + Frame_Shift_Ins INS - - A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 93682272 93682273 - A INS CCDC18 ENST00000557479 human ensembl 74_37 +1 known frame_shift_ins c.2153_2154 p.N720fs 1.000:1.000 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 tier1 37 0 0.00 40 11 21.57 CCDC180 0 genome.wustl.edu 37 9 100085126 100085126 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 100085126 100085126 G A SNP CCDC180 ENST00000375202 human ensembl 74_37 +1 known missense c.1303 p.V435M 0.012 NULL NULL - no_errors CCDC180 HGNC ENSG00000197816 tier1 rs142121305 - 77 0 0.00 84 31 26.96 CCDC33 0 genome.wustl.edu 37 15 74623335 74623337 + In_Frame_Del DEL AGA AGA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 15 74623335 74623337 AGA - DEL CCDC33 ENST00000321288 human ensembl 74_37 +1 known in_frame_del c.2168_2170 p.K724in_frame_del 1.000:1.000:1.000 NULL pfam_C2_dom,superfamily_C2_dom - no_errors CCDC33 HGNC ENSG00000140481 tier1 32 0 0.00 12 20 62.50 CCDC33 0 genome.wustl.edu 37 15 74623337 74623337 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 15 74623337 74623337 A G SNP CCDC33 ENST00000321288 human ensembl 74_37 +1 known missense c.2170 p.K724E 1.000 NULL pfam_C2_dom,superfamily_C2_dom - no_errors CCDC33 HGNC ENSG00000140481 33 0 0.00 3 8 61.54 CCDC38 0 genome.wustl.edu 37 12 96271999 96271999 + Nonsense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 96271999 96271999 G T SNP CCDC38 ENST00000344280 human ensembl 74_37 -1 known nonsense c.1268 p.S423* 1.000 NULL NULL - no_errors CCDC38 HGNC ENSG00000165972 25 0 0.00 24 3 11.11 CCDC40 0 genome.wustl.edu 37 17 78032417 78032417 + Missense_Mutation SNP G G C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 78032417 78032417 G C SNP CCDC40 ENST00000397545 human ensembl 74_37 +1 known missense c.1284 p.E428D 0.502 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 tier1 - - 24 0 0.00 32 32 50.00 CCDC42 0 genome.wustl.edu 37 17 8638830 8638830 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 8638830 8638830 G A SNP CCDC42 ENST00000293845 human ensembl 74_37 -1 known missense c.592 p.R198C 0.670 NULL NULL - no_errors CCDC42 HGNC ENSG00000161973 tier1 - - 23 0 0.00 31 27 46.55 CCDC7 0 genome.wustl.edu 37 10 32761449 32761449 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 32761449 32761449 G T SNP CCDC7 ENST00000277657 human ensembl 74_37 +1 known missense c.718 p.A240S 0.000 NULL NULL - no_errors CCDC7 HGNC ENSG00000216937 tier1 - - 23 0 0.00 23 4 14.81 CCDC8 0 genome.wustl.edu 37 19 46914706 46914706 + Silent SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 46914706 46914706 A G SNP CCDC8 ENST00000307522 human ensembl 74_37 -1 known silent c.1362 p.A454 0.004 NULL NULL - no_errors CCDC8 HGNC ENSG00000169515 tier1 - - 21 0 0.00 46 10 17.86 CCDC80 0 genome.wustl.edu 37 3 112358576 112358576 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 112358576 112358576 G A SNP CCDC80 ENST00000206423 human ensembl 74_37 -1 known silent c.177 p.R59 0.020 NULL NULL - no_errors CCDC80 HGNC ENSG00000091986 tier1 - - 48 0 0.00 63 34 35.05 CCDC82 0 genome.wustl.edu 37 11 96117597 96117597 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 96117597 96117597 G A SNP CCDC82 ENST00000278520 human ensembl 74_37 -1 known silent c.315 p.N105 0.000 NULL NULL - no_errors CCDC82 HGNC ENSG00000149231 tier1 - - 88 0 0.00 88 63 41.72 CCDC88C 0 genome.wustl.edu 37 14 91739502 91739503 + Frame_Shift_Ins INS - - G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 91739502 91739503 0 G INS CCDC88C ENST00000389857 human ensembl 74_37 -1 known frame_shift_ins c.5554_5553 p.S1851fs 0.035:0.000 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 8 0 0.00 9 4 30.77 CCER1 0 genome.wustl.edu 37 12 91348469 91348469 + Silent SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 91348469 91348469 A G SNP CCER1 ENST00000358859 human ensembl 74_37 -1 known silent c.51 p.G17 0.537 NULL NULL - no_errors CCER1 HGNC ENSG00000197651 tier1 - - 25 0 0.00 40 11 21.57 CCL14 0 genome.wustl.edu 37 17 34311431 34311431 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 34311431 34311431 C T SNP CCL14 ENST00000435911 human ensembl 74_37 -1 known missense c.185 p.R62H 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 - no_errors CCL14 HGNC ENSG00000213494 tier1 rs144903710 - 49 0 0.00 35 41 53.95 CCL20 0 genome.wustl.edu 37 2 228680154 228680154 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 228680154 228680154 T - DEL CCL20 ENST00000473642 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors CCL20 HGNC ENSG00000115009 tier1 14 0 0.00 15 6 28.57 CCNA1 0 genome.wustl.edu 37 13 37014167 37014167 + Silent SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 13 37014167 37014167 C A SNP CCNA1 ENST00000255465 human ensembl 74_37 +1 known silent c.945 p.T315 0.000 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNA1 HGNC ENSG00000133101 41 0 0.00 38 2 5.00 CCNC 0 genome.wustl.edu 37 6 100006296 100006296 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 100006296 100006296 A - DEL CCNC ENST00000482541 human ensembl 74_37 -1 putative frame_shift_del c.423 p.F141fs 0.007 superfamily_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNC HGNC ENSG00000112237 tier1 25 0 0.00 15 7 31.82 CCNT1 0 genome.wustl.edu 37 12 49087795 49087795 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 49087795 49087795 G A SNP CCNT1 ENST00000261900 human ensembl 74_37 -1 known missense c.1202 p.A401V 1.000 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT1 HGNC ENSG00000129315 tier1 - - 62 0 0.00 51 14 21.54 CCR3 0 genome.wustl.edu 37 3 46307343 46307343 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 46307343 46307343 A - DEL CCR3 ENST00000545097 human ensembl 74_37 +1 known frame_shift_del c.757 p.K255fs 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR3,prints_Chemokine_CCR1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR3,prints_Chemokine_CCR1 - no_errors CCR3 HGNC ENSG00000183625 tier1 25 0 0.00 6 12 66.67 CCSER1 0 genome.wustl.edu 37 4 91701607 91701607 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 91701607 91701607 G T SNP CCSER1 ENST00000432775 human ensembl 74_37 +1 known missense c.2025 p.R675S 0.264 NULL NULL - no_errors CCSER1 HGNC ENSG00000184305 tier1 - - 37 0 0.00 7 7 50.00 CCT7 0 genome.wustl.edu 37 2 73477474 73477474 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 73477474 73477474 A G SNP CCT7 ENST00000258091 human ensembl 74_37 +1 known missense c.1111 p.T371A 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_eta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_eta - no_errors CCT7 HGNC ENSG00000135624 tier1 - - 49 0 0.00 60 46 43.40 CCT7 0 genome.wustl.edu 37 2 73478542 73478542 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 73478542 73478542 G A SNP CCT7 ENST00000258091 human ensembl 74_37 +1 known silent c.1392 p.L464 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_eta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_eta - no_errors CCT7 HGNC ENSG00000135624 tier1 - - 30 0 0.00 60 36 37.50 CD163 0 genome.wustl.edu 37 12 7635292 7635292 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 7635292 7635292 A - DEL CD163 ENST00000359156 human ensembl 74_37 -1 known frame_shift_del c.3194 p.F1065fs 0.030 NULL pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors CD163 HGNC ENSG00000177575 tier1 31 0 0.00 40 13 24.53 CD1A 0 genome.wustl.edu 37 1 158226752 158226752 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 158226752 158226752 T C SNP CD1A ENST00000289429 human ensembl 74_37 +1 known missense c.781 p.Y261H 0.997 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1A HGNC ENSG00000158477 tier1 - - 52 0 0.00 58 19 24.68 CD200R1 0 genome.wustl.edu 37 3 112693701 112693701 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 112693701 112693701 G T SNP CD200R1 ENST00000308611 human ensembl 74_37 -1 known missense c.4 p.L2I 0.266 NULL pfam_CD80_C2-set,pfscan_Ig-like_dom - no_errors CD200R1 HGNC ENSG00000163606 tier1 - - 18 0 0.00 33 14 29.79 CD22 0 genome.wustl.edu 37 19 35828664 35828664 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 35828664 35828664 C T SNP CD22 ENST00000085219 human ensembl 74_37 +1 known missense c.725 p.P242L 0.520 pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CD22 HGNC ENSG00000012124 tier1 - - 17 0 0.00 4 7 63.64 CD34 0 genome.wustl.edu 37 1 208063101 208063102 + Frame_Shift_Del DEL AA AA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 208063101 208063102 AA - DEL CD34 ENST00000367036 human ensembl 74_37 -1 known frame_shift_del c.82_81 p.S28fs 0.000:0.000 NULL pfam_CD34/Podocalyxin,prints_CD34 - no_errors CD34 HGNC ENSG00000174059 tier1 16 0 0.00 20 5 20.00 CDC16 0 genome.wustl.edu 37 13 115012591 115012591 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 13 115012591 115012591 T - DEL CDC16 ENST00000494581 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors CDC16 HGNC ENSG00000130177 tier1 11 0 0.00 14 7 33.33 CDC40 0 genome.wustl.edu 37 6 110530394 110530394 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 110530394 110530394 G T SNP CDC40 ENST00000307731 human ensembl 74_37 +1 known missense c.598 p.V200L 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC40 HGNC ENSG00000168438 tier1 - - 45 0 0.00 40 6 13.04 CDH11 0 genome.wustl.edu 37 16 64984778 64984778 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 64984778 64984778 C T SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.1786 p.D596N 1.000 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 tier1 - - 25 0 0.00 79 30 27.52 CDH11 0 genome.wustl.edu 37 16 64984913 64984913 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 64984913 64984913 C T SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.1651 p.A551T 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 tier1 - - 27 0 0.00 64 11 14.67 CDH26 0 genome.wustl.edu 37 20 58587784 58587784 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 58587784 58587784 A - DEL CDH26 ENST00000348616 human ensembl 74_37 +1 known frame_shift_del c.2498 p.*833fs 0.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 tier1 23 0 0.00 22 21 48.84 CDK12 0 genome.wustl.edu 37 17 37667792 37667795 + Frame_Shift_Del DEL ACAA ACAA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 ACAA ACAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 37667792 37667795 ACAA - DEL CDK12 ENST00000447079 human ensembl 74_37 +1 known frame_shift_del c.2677_2680 p.N894fs 1.000:1.000:1.000:1.000 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_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 32 0 0.00 20 11 35.48 CDK19 0 genome.wustl.edu 37 6 110953273 110953273 + Silent SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 110953273 110953273 T C SNP CDK19 ENST00000368911 human ensembl 74_37 -1 known silent c.606 p.P202 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 CDK19 HGNC ENSG00000155111 tier1 - - 40 0 0.00 31 16 34.04 CDK19 0 genome.wustl.edu 37 6 110988756 110988756 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 110988756 110988756 C T SNP CDK19 ENST00000368911 human ensembl 74_37 -1 known missense c.337 p.A113T 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 CDK19 HGNC ENSG00000155111 tier1 - - 17 0 0.00 11 11 50.00 CDK20 0 genome.wustl.edu 37 9 90582463 90582463 + Frame_Shift_Del DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 90582463 90582463 G - DEL CDK20 ENST00000325303 human ensembl 74_37 -1 known frame_shift_del c.955 p.H319fs 0.178 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 CDK20 HGNC ENSG00000156345 tier1 26 0 0.00 18 10 35.71 CDK8 0 genome.wustl.edu 37 13 26978124 26978124 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 13 26978124 26978124 C A SNP CDK8 ENST00000381527 human ensembl 74_37 +1 known missense c.1301 p.P434H 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 CDK8 HGNC ENSG00000132964 tier1 - - 27 0 0.00 22 15 40.54 CDS2 0 genome.wustl.edu 37 20 5170988 5170990 + RNA DEL TTT TTT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 5170988 5170990 TTT - DEL CDS2 ENST00000379070 human ensembl 74_37 +1 known rna NULL NULL 0.003:0.004:0.004 - - - no_errors CDS2 HGNC ENSG00000101290 tier1 34 0 0.00 57 16 21.92 CELSR1 0 genome.wustl.edu 37 22 46931227 46931227 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 22 46931227 46931227 C - DEL CELSR1 ENST00000262738 human ensembl 74_37 -1 known frame_shift_del c.1841 p.G614fs 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin 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 CELSR1 HGNC ENSG00000075275 tier1 26 0 0.00 50 33 39.76 CELSR2 0 genome.wustl.edu 37 1 109811737 109811737 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 109811737 109811737 C - DEL CELSR2 ENST00000271332 human ensembl 74_37 +1 known frame_shift_del c.6637 p.V2215fs 0.004 pfam_DUF3497 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 19 0 0.00 31 17 35.42 CENPE 0 genome.wustl.edu 37 4 104115550 104115550 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 104115550 104115550 G A SNP CENPE ENST00000265148 human ensembl 74_37 -1 known missense c.608 p.S203F 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 tier1 - - 38 0 0.00 5 13 72.22 CEP170 0 genome.wustl.edu 37 1 243288182 243288183 + RNA DEL TT TT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 243288182 243288183 TT - DEL CEP170 ENST00000468254 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.014 - - - no_errors CEP170 HGNC ENSG00000143702 tier1 29 0 0.00 12 9 42.86 CEP170B 0 genome.wustl.edu 37 14 105353130 105353130 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 105353130 105353130 C T SNP CEP170B ENST00000453495 human ensembl 74_37 +1 known missense c.2557 p.R853W 0.001 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170B HGNC ENSG00000099814 tier1 - - 24 0 0.00 44 14 23.73 CEP85L 0 genome.wustl.edu 37 6 118887391 118887391 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 118887391 118887391 G A SNP CEP85L ENST00000368488 human ensembl 74_37 -1 known silent c.330 p.S110 1.000 NULL NULL - no_errors CEP85L HGNC ENSG00000111860 tier1 - - 39 0 0.00 26 16 38.10 CFI 0 genome.wustl.edu 37 4 110670692 110670692 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 110670692 110670692 C T SNP CFI ENST00000394634 human ensembl 74_37 -1 known missense c.1007 p.R336Q 0.999 superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_FacI_MAC,smart_Srcr_rcpt-rel,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_LDrepeatLR_classA_rpt,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors CFI HGNC ENSG00000205403 tier1 - - 24 0 0.00 19 11 36.67 CHD1L 0 genome.wustl.edu 37 1 146757121 146757123 + In_Frame_Del DEL GAG GAG - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 146757121 146757123 GAG - DEL CHD1L ENST00000369258 human ensembl 74_37 +1 known in_frame_del c.1975_1977 p.E660in_frame_del 0.998:1.000:0.999 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Macro_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors CHD1L HGNC ENSG00000131778 tier1 14 0 0.00 16 4 20.00 CHD3 0 genome.wustl.edu 37 17 7798765 7798765 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 7798765 7798765 C 0 DEL CHD3 ENST00000330494 human ensembl 74_37 +1 known frame_shift_del c.1612 p.R540fs 0.007 superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow 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 33 0 0.00 67 7 9.46 CHRDL2 0 genome.wustl.edu 37 11 74415621 74415621 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 74415621 74415621 C T SNP CHRDL2 ENST00000263671 human ensembl 74_37 -1 known missense c.661 p.A221T 0.997 NULL pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors CHRDL2 HGNC ENSG00000054938 tier1 rs200667288 - 26 0 0.00 43 24 35.82 CHRND 0 genome.wustl.edu 37 2 233393037 233393037 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 233393037 233393037 C - DEL CHRND ENST00000258385 human ensembl 74_37 +1 known frame_shift_del c.309 p.P105fs 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRND HGNC ENSG00000135902 tier1 20 0 0.00 39 13 25.00 CHST1 0 genome.wustl.edu 37 11 45671131 45671131 + RNA SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 45671131 45671131 C T SNP CHST1 ENST00000533673 human ensembl 74_37 -1 known rna NULL NULL 0.988 - - - no_errors CHST1 HGNC ENSG00000175264 tier1 - - 38 0 0.00 44 8 15.38 CIDEA 0 genome.wustl.edu 37 18 12277160 12277160 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 18 12277160 12277160 C T SNP CIDEA ENST00000320477 human ensembl 74_37 +1 known missense c.551 p.T184M 0.798 NULL pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom - no_errors CIDEA HGNC ENSG00000176194 tier1 - - 43 0 0.00 60 43 41.75 CISD3 0 genome.wustl.edu 37 17 36891208 36891208 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 36891208 36891208 A - DEL CISD3 ENST00000578573 human ensembl 74_37 +1 known rna NULL NULL 0.038 - - - no_errors CISD3 HGNC ENSG00000230055 tier1 35 0 0.00 32 18 36.00 CLASP1 0 genome.wustl.edu 37 2 122125240 122125240 + Silent SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 122125240 122125240 T C SNP CLASP1 ENST00000263710 human ensembl 74_37 -1 known silent c.3810 p.S1270 0.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP1 HGNC ENSG00000074054 tier1 - - 66 0 0.00 88 42 32.31 CLCN7 0 genome.wustl.edu 37 16 1497455 1497455 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 1497455 1497455 C T SNP CLCN7 ENST00000382745 human ensembl 74_37 -1 known missense c.2188 p.E730K 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-7 - no_errors CLCN7 HGNC ENSG00000103249 tier1 - - 35 0 0.00 56 21 27.27 CLCNKB 0 genome.wustl.edu 37 1 16375608 16375608 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 16375608 16375608 C - DEL CLCNKB ENST00000375667 human ensembl 74_37 +1 known frame_shift_del c.142 p.P49fs 0.851 NULL pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated - no_errors CLCNKB HGNC ENSG00000184908 tier1 60 0 0.00 24 48 66.67 CLEC16A 0 genome.wustl.edu 37 16 11272324 11272324 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 11272324 11272324 C T SNP CLEC16A ENST00000409790 human ensembl 74_37 +1 known missense c.2939 p.S980F 1.000 NULL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC ENSG00000038532 tier1 - - 19 0 0.00 46 12 20.69 CLEC19A 0 genome.wustl.edu 37 16 19309988 19309988 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 19309988 19309988 C - DEL CLEC19A ENST00000476906 human ensembl 74_37 +1 known frame_shift_del c.104 p.S37fs 0.988 NULL NULL - no_errors CLEC19A HGNC ENSG00000261210 tier1 22 0 0.00 47 18 27.69 CLEC9A 0 genome.wustl.edu 37 12 10205421 10205422 + RNA DEL TT TT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 10205421 10205422 TT - DEL CLEC9A ENST00000544751 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors CLEC9A HGNC ENSG00000197992 tier1 19 0 0.00 22 7 24.14 CLECL1 0 genome.wustl.edu 37 12 9875256 9875256 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 9875256 9875256 T C SNP CLECL1 ENST00000327839 human ensembl 74_37 -1 known missense c.470 p.Q157R 0.072 superfamily_C-type_lectin_fold superfamily_C-type_lectin_fold - no_errors CLECL1 HGNC ENSG00000184293 tier1 - - 50 0 0.00 38 15 28.30 CLIC5 0 genome.wustl.edu 37 6 45870934 45870934 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 45870934 45870934 C T SNP CLIC5 ENST00000185206 human ensembl 74_37 -1 known missense c.1124 p.R375Q 1.000 superfamily_Glutathione-S-Trfase_C-like,tigrfam_Int_Cl_channel superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC5 HGNC ENSG00000112782 tier1 - - 35 0 0.00 21 13 38.24 CLIP2 0 genome.wustl.edu 37 7 73770923 73770923 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 73770923 73770923 C T SNP CLIP2 ENST00000223398 human ensembl 74_37 +1 known silent c.987 p.S329 0.192 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 tier1 rs199730295 - 35 0 0.00 42 21 33.33 CLSTN1 0 genome.wustl.edu 37 1 9795218 9795219 + Frame_Shift_Ins INS - - C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 9795218 9795219 - C INS CLSTN1 ENST00000377298 human ensembl 74_37 -1 known frame_shift_ins c.1898_1897 p.A633fs 0.989:1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CLSTN1 HGNC ENSG00000171603 tier1 39 0 0.00 34 7 17.07 CNBD2 0 genome.wustl.edu 37 20 34568534 34568534 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 34568534 34568534 C T SNP CNBD2 ENST00000373973 human ensembl 74_37 +1 known missense c.397 p.R133C 1.000 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNBD2 HGNC ENSG00000149646 tier1 rs146293825 - 20 0 0.00 25 21 45.65 CNGB1 0 genome.wustl.edu 37 16 57918169 57918169 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 57918169 57918169 C T SNP CNGB1 ENST00000251102 human ensembl 74_37 -1 known missense c.3655 p.E1219K 0.001 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 tier1 - - 17 0 0.00 42 10 19.23 CNOT1 0 genome.wustl.edu 37 16 58577327 58577327 + Missense_Mutation SNP A A C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 58577327 58577327 A C SNP CNOT1 ENST00000441024 human ensembl 74_37 -1 known missense c.4618 p.F1540V 0.000 NULL superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 tier1 - - 31 0 0.00 36 8 18.18 CNOT3 0 genome.wustl.edu 37 19 54656009 54656009 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 54656009 54656009 C T SNP CNOT3 ENST00000221232 human ensembl 74_37 +1 known missense c.1652 p.A551V 1.000 pirsf_CCR4-NOT_su3/5 pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5 - no_errors CNOT3 HGNC ENSG00000088038 tier1 - - 43 0 0.00 16 34 68.00 CNTNAP2 0 genome.wustl.edu 37 7 148112873 148112873 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 148112873 148112873 A - DEL CNTNAP2 ENST00000463592 human ensembl 74_37 +1 known rna NULL NULL 0.048 - - - no_errors CNTNAP2 HGNC ENSG00000174469 tier1 19 0 0.00 16 13 44.83 CNTNAP5 0 genome.wustl.edu 37 2 125547549 125547549 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 125547549 125547549 G A SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.2820 p.M940I 0.972 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,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 CNTNAP5 HGNC ENSG00000155052 tier1 - - 46 0 0.00 37 10 21.28 COBLL1 0 genome.wustl.edu 37 2 165551296 165551296 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 165551296 165551296 A - DEL COBLL1 ENST00000194871 human ensembl 74_37 -1 known frame_shift_del c.2921 p.L974fs 0.972 NULL pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 tier1 18 0 0.00 11 6 35.29 COL11A1 0 genome.wustl.edu 37 1 103474067 103474067 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 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 38 0 0.00 43 9 17.31 COL12A1 0 genome.wustl.edu 37 6 75836149 75836149 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 75836149 75836149 G A SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known silent c.6378 p.D2126 0.981 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 tier1 - - 28 0 0.00 14 18 56.25 COL4A3 0 genome.wustl.edu 37 2 228131180 228131180 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 228131180 228131180 G T SNP COL4A3 ENST00000396578 human ensembl 74_37 +1 known missense c.1363 p.G455C 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 tier1 - - 44 0 0.00 35 26 42.62 COL5A1 0 genome.wustl.edu 37 9 137645711 137645711 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 137645711 137645711 G A SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known missense c.1735 p.G579R 0.965 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 COL5A1 HGNC ENSG00000130635 tier1 - - 50 0 0.00 64 6 8.57 COL6A5 0 genome.wustl.edu 37 3 130107894 130107894 + Missense_Mutation SNP G G C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 130107894 130107894 G C SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known missense c.2333 p.S778T 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 20 0 0.00 20 3 13.04 CORO1A 0 genome.wustl.edu 37 16 30198370 30198370 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 30198370 30198370 C T SNP CORO1A ENST00000219150 human ensembl 74_37 +1 known silent c.462 p.N154 0.980 pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1A HGNC ENSG00000102879 tier1 - - 59 0 0.00 45 41 47.67 CORO1B 0 genome.wustl.edu 37 11 67209168 67209169 + Frame_Shift_Del DEL GG GG - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 67209168 67209169 GG - DEL CORO1B ENST00000545016 human ensembl 74_37 -1 known frame_shift_del c.490_489 p.H164fs 0.000:0.000 NULL pfam_DUF1899,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1B HGNC ENSG00000172725 tier1 18 0 0.00 31 31 50.00 COX10 0 genome.wustl.edu 37 17 14095522 14095522 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 14095522 14095522 G A SNP COX10 ENST00000261643 human ensembl 74_37 +1 known silent c.912 p.T304 0.010 pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase - no_errors COX10 HGNC ENSG00000006695 70 0 0.00 103 12 10.43 COX16 0 genome.wustl.edu 37 14 70793016 70793017 + RNA DEL AA AA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 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 22 0 0.00 21 8 27.59 COX7C 0 genome.wustl.edu 37 5 85913793 85913794 + RNA INS - - A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 85913793 85913794 - A INS COX7C ENST00000505430 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors COX7C HGNC ENSG00000127184 tier1 41 0 0.00 33 10 23.26 CPEB2 0 genome.wustl.edu 37 4 15060881 15060881 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 15060881 15060881 G A SNP CPEB2 ENST00000538197 human ensembl 74_37 +1 known missense c.2651 p.R884Q 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB2 HGNC ENSG00000137449 tier1 - - 51 0 0.00 69 18 20.69 CPED1 0 genome.wustl.edu 37 7 120691425 120691427 + RNA DEL TTT TTT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 120691425 120691427 TTT - DEL CPED1 ENST00000495036 human ensembl 74_37 +1 known rna NULL NULL 0.653:0.693:0.715 - - - no_errors CPED1 HGNC ENSG00000106034 tier1 17 0 0.00 14 4 22.22 CPSF1 0 genome.wustl.edu 37 8 145625613 145625613 + Frame_Shift_Del DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 145625613 145625613 G - DEL CPSF1 ENST00000349769 human ensembl 74_37 -1 known frame_shift_del c.884 p.P295fs 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 tier1 23 0 0.00 81 9 10.00 CPSF3L 0 genome.wustl.edu 37 1 1248015 1248015 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 1248015 1248015 C T SNP CPSF3L ENST00000540437 human ensembl 74_37 -1 known missense c.1378 p.V460I 1.000 NULL pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like - no_errors CPSF3L HGNC ENSG00000127054 tier1 - - 28 0 0.00 29 11 27.50 CR2 0 genome.wustl.edu 37 1 207641843 207641844 + RNA INS - - T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 207641843 207641844 - T INS CR2 ENST00000485707 human ensembl 74_37 +1 known rna NULL NULL 0.047:0.038 - - - no_errors CR2 HGNC ENSG00000117322 tier1 24 0 0.00 19 8 29.63 CRAT 0 genome.wustl.edu 37 9 131864814 131864814 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 131864814 131864814 C - DEL CRAT ENST00000318080 human ensembl 74_37 -1 known frame_shift_del c.495 p.K166fs 0.127 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CRAT HGNC ENSG00000095321 tier1 49 0 0.00 60 32 34.78 CREB3 0 genome.wustl.edu 37 9 35733097 35733097 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 35733097 35733097 C T SNP CREB3 ENST00000353704 human ensembl 74_37 +1 known silent c.234 p.D78 0.980 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3 HGNC ENSG00000107175 tier1 - - 43 0 0.00 40 10 20.00 CRIPAK 0 genome.wustl.edu 37 4 1388569 1388569 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 1388569 1388569 C T SNP CRIPAK ENST00000324803 human ensembl 74_37 +1 known silent c.270 p.A90 0.000 NULL smart_Post-SET_dom - no_errors CRIPAK HGNC ENSG00000179979 tier1 - - 170 0 0.00 379 76 16.70 CRMP1 0 genome.wustl.edu 37 4 5857915 5857915 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 5857915 5857915 A G SNP CRMP1 ENST00000324989 human ensembl 74_37 -1 known missense c.775 p.Y259H 1.000 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 tier1 - - 62 0 0.00 24 56 70.00 CROCCP2 0 genome.wustl.edu 37 1 16945454 16945454 + RNA SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 16945454 16945454 G A SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors CROCCP2 HGNC ENSG00000215908 tier1 - - 71 0 0.00 104 9 7.83 CRYAA 0 genome.wustl.edu 37 21 44589921 44589921 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 21 44589921 44589921 C - DEL CRYAA ENST00000398133 human ensembl 74_37 +1 putative frame_shift_del c.87 p.33fs 0.026 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 13 0 0.00 21 14 40.00 CSF2RA 0 genome.wustl.edu 37 X 1414467 1414467 + RNA SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 X 1414467 1414467 C T SNP CSF2RA ENST00000491683 human ensembl 74_37 +1 putative rna NULL NULL 0.993 - - - no_errors CSF2RA HGNC ENSG00000198223 tier1 - - 124 0 0.00 92 13 12.38 CSF3 0 genome.wustl.edu 37 17 38171995 38171995 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 38171995 38171995 C - DEL CSF3 ENST00000225474 human ensembl 74_37 +1 known frame_shift_del c.92 p.L33fs 0.000 pirsf_IL-6/IL-23/GCSF/MGF pfam_IL-6/IL-23/GCSF/MGF,superfamily_4_helix_cytokine-like_core,smart_IL-6/IL-23/GCSF/MGF,pirsf_IL-6/IL-23/GCSF/MGF,prints_IL-6/IL-23/GCSF/MGF - no_errors CSF3 HGNC ENSG00000108342 tier1 27 0 0.00 33 9 21.43 CSMD3 0 genome.wustl.edu 37 8 113301669 113301669 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 113301669 113301669 G A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.9073 p.R3025C 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 - - 32 0 0.00 48 12 20.00 CSMD3 0 genome.wustl.edu 37 8 113308228 113308228 + Missense_Mutation SNP A A T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 113308228 113308228 A T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.8448 p.H2816Q 1.000 superfamily_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 - - 53 0 0.00 58 49 45.79 CSMD3 0 genome.wustl.edu 37 8 113529438 113529438 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 113529438 113529438 C T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.4581 p.A1527 0.080 superfamily_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 - - 44 0 0.00 111 15 11.90 CSNK1G2-AS1 0 genome.wustl.edu 37 19 1954193 1954193 + RNA SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 1954193 1954193 C T SNP CSNK1G2-AS1 ENST00000314315 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CSNK1G2-AS1 HGNC ENSG00000180846 tier1 - - 35 0 0.00 40 29 42.03 CSNK2A1 0 genome.wustl.edu 37 20 485835 485835 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 485835 485835 C T SNP CSNK2A1 ENST00000217244 human ensembl 74_37 -1 known missense c.140 p.R47Q 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_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK2A1 HGNC ENSG00000101266 tier1 - - 70 0 0.00 40 12 23.08 CSPG4 0 genome.wustl.edu 37 15 75983102 75983103 + Frame_Shift_Del DEL TC TC - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 15 75983102 75983103 TC - DEL CSPG4 ENST00000308508 human ensembl 74_37 -1 known frame_shift_del c.304_303 p.E101fs 0.000:0.000 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,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 tier1 95 0 0.00 104 29 21.80 CST4 0 genome.wustl.edu 37 20 23667826 23667826 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 23667826 23667826 C - DEL CST4 ENST00000217423 human ensembl 74_37 -1 known frame_shift_del c.241 p.V81fs 0.000 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST4 HGNC ENSG00000101441 tier1 65 0 0.00 180 39 17.81 CSTF2T 0 genome.wustl.edu 37 10 53459077 53459077 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 53459077 53459077 T C SNP CSTF2T ENST00000331173 human ensembl 74_37 -1 known missense c.233 p.N78S 0.999 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2T HGNC ENSG00000177613 tier1 - - 34 0 0.00 31 15 32.61 CTDP1 0 genome.wustl.edu 37 18 77474867 77474867 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 18 77474867 77474867 C T SNP CTDP1 ENST00000299543 human ensembl 74_37 +1 known silent c.1407 p.S469 0.000 NULL 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 - - 9 0 0.00 25 9 26.47 CTSC 0 genome.wustl.edu 37 11 88068234 88068234 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 88068234 88068234 T 0 DEL CTSC ENST00000227266 human ensembl 74_37 -1 known frame_shift_del c.189 p.V64fs 0.999 pfam_CathepsinC_exc pfam_Peptidase_C1A_C,pfam_CathepsinC_exc,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSC HGNC ENSG00000109861 24 0 0.00 19 9 32.14 CTTNBP2NL 0 genome.wustl.edu 37 1 112999148 112999148 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 112999148 112999148 A G SNP CTTNBP2NL ENST00000271277 human ensembl 74_37 +1 known missense c.1034 p.Y345C 0.981 NULL pfam_Cortactin-binding_p2_N - no_errors CTTNBP2NL HGNC ENSG00000143079 tier1 - - 18 0 0.00 7 16 69.57 CUX1 0 genome.wustl.edu 37 7 101845168 101845168 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 101845168 101845168 G T SNP CUX1 ENST00000360264 human ensembl 74_37 +1 known missense c.2624 p.R875L 0.187 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 tier1 - - 43 0 0.00 61 40 39.60 CUX2 0 genome.wustl.edu 37 12 111748477 111748477 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 111748477 111748477 C T SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known missense c.1891 p.R631W 1.000 superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT 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 - - 13 0 0.00 17 6 26.09 CXCR2 0 genome.wustl.edu 37 2 219000454 219000454 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 219000454 219000454 C - DEL CXCR2 ENST00000318507 human ensembl 74_37 +1 known frame_shift_del c.930 p.L312fs 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR2,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CXCR2 HGNC ENSG00000180871 tier1 29 0 0.00 37 26 41.27 CXXC11 0 genome.wustl.edu 37 2 242814375 242814375 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 242814375 242814375 C - DEL CXXC11 ENST00000343216 human ensembl 74_37 +1 known frame_shift_del c.668 p.P225fs 0.000 NULL NULL - no_errors CXXC11 HGNC ENSG00000188011 tier1 34 0 0.00 39 28 41.79 CXorf36 0 genome.wustl.edu 37 X 45051221 45051221 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 X 45051221 45051221 G A SNP CXorf36 ENST00000398000 human ensembl 74_37 -1 known silent c.273 p.P91 0.001 NULL NULL - no_errors CXorf36 HGNC ENSG00000147113 tier1 rs141296501 - 29 0 0.00 10 25 71.43 CYB561A3 0 genome.wustl.edu 37 11 61124145 61124145 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 61124145 61124145 C T SNP CYB561A3 ENST00000426130 human ensembl 74_37 -1 known missense c.92 p.G31E 0.555 pfscan_Cyt_b561/ferric_Rdtase_TM pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors CYB561A3 HGNC ENSG00000162144 tier1 - - 32 0 0.00 28 11 28.21 CYP27A1 0 genome.wustl.edu 37 2 219674399 219674399 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 219674399 219674399 C T SNP CYP27A1 ENST00000258415 human ensembl 74_37 +1 known missense c.355 p.R119W 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP27A1 HGNC ENSG00000135929 tier1 - - 30 0 0.00 46 27 36.99 CYP4F3 0 genome.wustl.edu 37 19 15769134 15769134 + Silent SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 15769134 15769134 T C SNP CYP4F3 ENST00000221307 human ensembl 74_37 +1 known silent c.1176 p.H392 0.894 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_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 CYP4F3 HGNC ENSG00000186529 tier1 - - 53 0 0.00 53 36 40.45 DAAM1 0 genome.wustl.edu 37 14 59835592 59835592 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 59835592 59835592 T - DEL DAAM1 ENST00000553966 human ensembl 74_37 +1 known rna NULL NULL 0.059 - - - no_errors DAAM1 HGNC ENSG00000100592 tier1 38 0 0.00 14 31 68.89 DAZAP1 0 genome.wustl.edu 37 19 1434830 1434830 + Frame_Shift_Del DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 1434830 1434830 G - DEL DAZAP1 ENST00000233078 human ensembl 74_37 +1 known frame_shift_del c.1143 p.G383fs 0.048 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DAZAP1 HGNC ENSG00000071626 tier1 42 0 0.00 91 29 24.17 DBNL 0 genome.wustl.edu 37 7 44101106 44101106 + RNA SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 44101106 44101106 G A SNP DBNL ENST00000497184 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DBNL HGNC ENSG00000136279 tier1 - - 37 0 0.00 43 36 45.00 DCAF8L2 0 genome.wustl.edu 37 X 27765039 27765039 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 X 27765039 27765039 C T SNP DCAF8L2 ENST00000451261 human ensembl 74_37 +1 known silent c.27 p.D9 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L2 HGNC ENSG00000189186 tier1 - - 10 0 0.00 2 16 88.89 DCC 0 genome.wustl.edu 37 18 50592505 50592505 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 18 50592505 50592505 G T SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.1230 p.Q410H 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Neogenin_C,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 DCC HGNC ENSG00000187323 tier1 - - 80 0 0.00 47 13 21.67 DCHS1 0 genome.wustl.edu 37 11 6655411 6655411 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 6655411 6655411 G A SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known missense c.1924 p.R642W 0.002 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 tier1 - - 28 0 0.00 29 41 58.57 DCHS2 0 genome.wustl.edu 37 4 155253834 155253834 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 155253834 155253834 T C SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.2029 p.T677A 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 51 0 0.00 25 8 24.24 DCST1 0 genome.wustl.edu 37 1 155007018 155007018 + Frame_Shift_Del DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 155007018 155007018 G - DEL DCST1 ENST00000295542 human ensembl 74_37 +1 known frame_shift_del c.169 p.L59fs 0.954 NULL pfam_DC_STAMP-like,pfscan_Znf_RING - no_errors DCST1 HGNC ENSG00000163357 tier1 51 0 0.00 58 17 22.67 DDX11 0 genome.wustl.edu 37 12 31256314 31256314 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 31256314 31256314 G A SNP DDX11 ENST00000407793 human ensembl 74_37 +1 known missense c.2516 p.R839H 1.000 smart_ATP-dep_Helicase_C 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 DDX11 HGNC ENSG00000013573 tier1 - - 64 0 0.00 84 40 32.26 DDX19B 0 genome.wustl.edu 37 16 70351424 70351425 + Frame_Shift_Del DEL TA TA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 70351424 70351425 TA - DEL DDX19B ENST00000288071 human ensembl 74_37 +1 known frame_shift_del c.322_323 p.Y108fs 1.000:1.000 pfscan_RNA_helicase_DEAD_Q_motif 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 DDX19B HGNC ENSG00000157349 tier1 45 0 0.00 63 35 35.71 DDX23 0 genome.wustl.edu 37 12 49226301 49226301 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 49226301 49226301 T C SNP DDX23 ENST00000308025 human ensembl 74_37 -1 known missense c.1859 p.Y620C 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd 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 15 0 0.00 38 4 9.52 DDX28 0 genome.wustl.edu 37 16 68056444 68056444 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 68056444 68056444 G T SNP DDX28 ENST00000332395 human ensembl 74_37 -1 known missense c.662 p.A221D 0.022 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd 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 DDX28 HGNC ENSG00000182810 tier1 - - 41 0 0.00 41 65 60.75 DDX54 0 genome.wustl.edu 37 12 113599199 113599199 + RNA SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 113599199 113599199 C T SNP DDX54 ENST00000549271 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors DDX54 HGNC ENSG00000123064 tier1 - - 35 0 0.00 49 20 28.99 DDX59 0 genome.wustl.edu 37 1 200594042 200594042 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 200594042 200594042 T - DEL DDX59 ENST00000447706 human ensembl 74_37 -1 known frame_shift_del c.1730 p.N577fs 0.001 pfscan_Helicase_C 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 54 0 0.00 30 30 50.00 DENND1C 0 genome.wustl.edu 37 19 6475732 6475732 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 6475732 6475732 G A SNP DENND1C ENST00000381480 human ensembl 74_37 -1 known silent c.810 p.H270 0.998 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom 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 DENND1C HGNC ENSG00000205744 tier1 - - 17 0 0.00 32 25 43.86 DENND2C 0 genome.wustl.edu 37 1 115168367 115168367 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 115168367 115168367 C T SNP DENND2C ENST00000393274 human ensembl 74_37 -1 known missense c.239 p.G80D 0.009 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 DENND2C HGNC ENSG00000175984 tier1 - - 54 0 0.00 36 30 45.45 DENND4B 0 genome.wustl.edu 37 1 153914345 153914345 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 153914345 153914345 G A SNP DENND4B ENST00000361217 human ensembl 74_37 -1 known missense c.1055 p.A352V 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_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 - no_errors DENND4B HGNC ENSG00000198837 tier1 - - 36 0 0.00 46 23 33.33 DENND4B 0 genome.wustl.edu 37 1 153914758 153914758 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 153914758 153914758 G A SNP DENND4B ENST00000361217 human ensembl 74_37 -1 known missense c.715 p.P239S 1.000 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_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 - no_errors DENND4B HGNC ENSG00000198837 tier1 - - 23 0 0.00 34 25 42.37 DENND5A 0 genome.wustl.edu 37 11 9164987 9164987 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 9164987 9164987 T C SNP DENND5A ENST00000328194 human ensembl 74_37 -1 known missense c.3350 p.N1117S 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 DENND5A HGNC ENSG00000184014 tier1 - - 26 0 0.00 14 20 58.82 DGCR6L 0 genome.wustl.edu 37 22 20303643 20303643 + Missense_Mutation SNP T T A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 22 20303643 20303643 T A SNP DGCR6L ENST00000248879 human ensembl 74_37 -1 known missense c.371 p.E124V 1.000 pfam_DGCR6 pfam_DGCR6 - no_errors DGCR6L HGNC ENSG00000128185 tier1 - - 78 0 0.00 84 43 33.59 DGCR8 0 genome.wustl.edu 37 22 20077689 20077689 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 22 20077689 20077689 C T SNP DGCR8 ENST00000351989 human ensembl 74_37 +1 known missense c.1214 p.P405L 0.000 NULL pfam_dsRNA-bd_dom,superfamily_WW_dom,smart_WW_dom,smart_dsRNA-bd_dom,pfscan_WW_dom,pfscan_dsRNA-bd_dom - no_errors DGCR8 HGNC ENSG00000128191 tier1 - - 13 0 0.00 15 17 53.12 DGKD 0 genome.wustl.edu 37 2 234294806 234294806 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 234294806 234294806 T - DEL DGKD ENST00000489613 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors DGKD HGNC ENSG00000077044 tier1 22 0 0.00 28 13 31.71 DIAPH1 0 genome.wustl.edu 37 5 140953564 140953566 + In_Frame_Del DEL GGA GGA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 140953564 140953566 GGA - DEL DIAPH1 ENST00000253811 human ensembl 74_37 -1 known in_frame_del c.1853_1851 p.P620in_frame_del 0.010:0.008:0.007 pfam_Formin_homology_1 pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DIAPH1 HGNC ENSG00000131504 tier1 10 0 0.00 13 3 18.75 DIDO1 0 genome.wustl.edu 37 20 61524253 61524253 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 61524253 61524253 T C SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.3163 p.T1055A 1.000 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 DIDO1 HGNC ENSG00000101191 tier1 - - 54 0 0.00 42 27 39.13 DIS3L2 0 genome.wustl.edu 37 2 232995570 232995570 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 232995570 232995570 A - DEL DIS3L2 ENST00000470087 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DIS3L2 HGNC ENSG00000144535 tier1 10 0 0.00 11 5 31.25 DLC1 0 genome.wustl.edu 37 8 12957055 12957055 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 12957055 12957055 C T SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known missense c.2791 p.G931R 1.000 NULL 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 - - 49 0 0.00 21 42 66.67 DLD 0 genome.wustl.edu 37 7 107557313 107557313 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 107557313 107557313 C A SNP DLD ENST00000205402 human ensembl 74_37 +1 known missense c.950 p.P317H 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Lipoamide_DH pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Lipoamide_DH - no_errors DLD HGNC ENSG00000091140 tier1 - - 55 0 0.00 122 34 21.79 DLG2 0 genome.wustl.edu 37 11 84996271 84996271 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 84996271 84996271 G A SNP DLG2 ENST00000376104 human ensembl 74_37 -1 known missense c.179 p.S60F 0.001 pirsf_M-assoc_guanylate_kinase 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 - - 57 0 0.00 53 37 41.11 DLG5 0 genome.wustl.edu 37 10 79579660 79579660 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 79579660 79579660 C T SNP DLG5 ENST00000372391 human ensembl 74_37 -1 known silent c.3519 p.P1173 0.069 NULL pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG5 HGNC ENSG00000151208 tier1 - - 37 0 0.00 35 6 14.63 DLGAP1 0 genome.wustl.edu 37 18 3534565 3534565 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 18 3534565 3534565 G A SNP DLGAP1 ENST00000315677 human ensembl 74_37 -1 known silent c.2106 p.A702 0.415 pfam_GKAP pfam_GKAP - no_errors DLGAP1 HGNC ENSG00000170579 tier1 - - 11 0 0.00 13 14 51.85 DMTN 0 genome.wustl.edu 37 8 21926552 21926552 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 21926552 21926552 C - DEL DMTN ENST00000265800 human ensembl 74_37 +1 known frame_shift_del c.275 p.P94fs 1.000 NULL pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece - no_errors DMTN HGNC ENSG00000158856 tier1 27 0 0.00 13 13 50.00 DNAH1 0 genome.wustl.edu 37 3 52397145 52397145 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 52397145 52397145 G T SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.5229 p.E1743D 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 tier1 - - 43 0 0.00 25 20 44.44 DNAH10 0 genome.wustl.edu 37 12 124417966 124417966 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 124417966 124417966 G A SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.13031 p.R4344Q 1.000 pfam_Dynein_heavy_dom 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 - - 44 0 0.00 33 48 59.26 DNAH5 0 genome.wustl.edu 37 5 13839629 13839629 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 13839629 13839629 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.5718 p.M1906I 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 18 0 0.00 54 7 11.48 DNAJC19 0 genome.wustl.edu 37 3 180705810 180705810 + Splice_Site SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 180705810 180705810 C T SNP DNAJC19 ENST00000382564 human ensembl 74_37 -1 known splice_site c.129+1 e3+1 1.000 - - - no_errors DNAJC19 HGNC ENSG00000205981 tier1 - - 21 0 0.00 42 12 22.22 DNAJC2 0 genome.wustl.edu 37 7 102964992 102964992 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 102964992 102964992 T - DEL DNAJC2 ENST00000379263 human ensembl 74_37 -1 known frame_shift_del c.590 p.N197fs 1.000 NULL pfam_SANT/Myb,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain - no_errors DNAJC2 HGNC ENSG00000105821 tier1 16 0 0.00 29 13 30.95 DOCK1 0 genome.wustl.edu 37 10 128841421 128841421 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 128841421 128841421 G A SNP DOCK1 ENST00000280333 human ensembl 74_37 +1 known missense c.2131 p.A711T 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 tier1 - - 34 0 0.00 26 18 40.91 DOCK3 0 genome.wustl.edu 37 3 51417604 51417604 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 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 43 0 0.00 22 28 56.00 DOK1 0 genome.wustl.edu 37 2 74782459 74782459 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 74782459 74782459 C - DEL DOK1 ENST00000233668 human ensembl 74_37 +1 known frame_shift_del c.239 p.P82fs 1.000 smart_Pleckstrin_homology pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK1 HGNC ENSG00000115325 tier1 45 0 0.00 89 44 33.08 DOPEY1 0 genome.wustl.edu 37 6 83819909 83819909 + Frame_Shift_Del DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 83819909 83819909 G - DEL DOPEY1 ENST00000349129 human ensembl 74_37 +1 known frame_shift_del c.557 p.G187fs 1.000 pfam_Dopey_N,superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 tier1 52 0 0.00 38 32 45.71 DROSHA 0 genome.wustl.edu 37 5 31431690 31431690 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 31431690 31431690 C T SNP DROSHA ENST00000344624 human ensembl 74_37 -1 known silent c.3138 p.A1046 0.247 pfam_RNase_III_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,pfscan_RNase_III_dom pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DROSHA HGNC ENSG00000113360 tier1 - - 28 0 0.00 70 7 9.09 DST 0 genome.wustl.edu 37 6 56335022 56335022 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 56335022 56335022 G A SNP DST ENST00000370754 human ensembl 74_37 -1 known silent c.22287 p.G7429 0.916 superfamily_ABC1_TM_dom,smart_EF_hand_dom,pfscan_EF_hand_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 - - 37 0 0.00 25 5 16.67 DTX2 0 genome.wustl.edu 37 7 76131626 76131626 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 76131626 76131626 C T SNP DTX2 ENST00000324432 human ensembl 74_37 +1 known silent c.1242 p.I414 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX2 HGNC ENSG00000091073 tier1 - - 52 0 0.00 66 38 36.54 DUPD1 0 genome.wustl.edu 37 10 76803696 76803696 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 76803696 76803696 C T SNP DUPD1 ENST00000338487 human ensembl 74_37 -1 known missense c.280 p.V94M 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP - no_errors DUPD1 HGNC ENSG00000188716 tier1 - - 28 0 0.00 58 14 19.44 DUS2 0 genome.wustl.edu 37 16 68088489 68088489 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 68088489 68088489 G A SNP DUS2 ENST00000358896 human ensembl 74_37 +1 known missense c.277 p.A93T 0.999 pfam_tRNA_hU_synthase pfam_tRNA_hU_synthase,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom - no_errors DUS2 HGNC ENSG00000167264 tier1 - - 95 0 0.00 217 31 12.50 DUSP10 0 genome.wustl.edu 37 1 221874930 221874932 + RNA DEL AAA AAA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 221874930 221874932 AAA - DEL DUSP10 ENST00000468085 human ensembl 74_37 -1 known rna NULL NULL 0.966:0.957:0.948 - - - no_errors DUSP10 HGNC ENSG00000143507 tier1 12 0 0.00 9 6 40.00 DUSP10 0 genome.wustl.edu 37 1 221875662 221875662 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 221875662 221875662 A - DEL DUSP10 ENST00000468085 human ensembl 74_37 -1 known rna NULL NULL 0.040 - - - no_errors DUSP10 HGNC ENSG00000143507 tier1 23 0 0.00 11 11 50.00 DUSP26 0 genome.wustl.edu 37 8 33449611 33449611 + Nonsense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 33449611 33449611 G A SNP DUSP26 ENST00000256261 human ensembl 74_37 -1 known nonsense c.556 p.R186* 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP - no_errors DUSP26 HGNC ENSG00000133878 tier1 - - 43 0 0.00 22 33 60.00 DZIP1L 0 genome.wustl.edu 37 3 137811298 137811299 + Frame_Shift_Ins INS - - C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 137811298 137811299 - C INS DZIP1L ENST00000327532 human ensembl 74_37 -1 known frame_shift_ins c.797_796 p.E266fs 1.000:0.998 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 tier1 34 0 0.00 30 14 31.82 E2F4 0 genome.wustl.edu 37 16 67229794 67229796 + In_Frame_Del DEL CAG CAG - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 67229794 67229796 CAG - DEL E2F4 ENST00000379378 human ensembl 74_37 +1 known in_frame_del c.918_920 p.S310in_frame_del 0.995:0.995:0.995 NULL pfam_E2F_TDP - no_errors E2F4 HGNC ENSG00000205250 tier1 37 0 0.00 119 26 17.93 EAF1-AS1 0 genome.wustl.edu 37 3 15480599 15480599 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 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 26 0 0.00 25 9 26.47 EBPL 0 genome.wustl.edu 37 13 50235209 50235209 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 13 50235209 50235209 A - DEL EBPL ENST00000242827 human ensembl 74_37 -1 known frame_shift_del c.516 p.F172fs 0.997 pfam_EBP pfam_EBP - no_errors EBPL HGNC ENSG00000123179 tier1 36 0 0.00 33 9 21.43 EDC4 0 genome.wustl.edu 37 16 67916729 67916729 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 67916729 67916729 G A SNP EDC4 ENST00000358933 human ensembl 74_37 +1 known missense c.3590 p.R1197H 1.000 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 tier1 - - 43 0 0.00 130 14 9.72 EDIL3 0 genome.wustl.edu 37 5 83239319 83239319 + Silent SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 83239319 83239319 T C SNP EDIL3 ENST00000296591 human ensembl 74_37 -1 known silent c.1362 p.R454 0.983 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 - - 72 0 0.00 35 13 27.08 EEF2 0 genome.wustl.edu 37 19 3984216 3984216 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 3984216 3984216 T C SNP EEF2 ENST00000309311 human ensembl 74_37 -1 known missense c.136 p.I46V 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom 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 - - 84 0 0.00 46 66 58.93 EEPD1 0 genome.wustl.edu 37 7 36194797 36194797 + Silent SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 36194797 36194797 A G SNP EEPD1 ENST00000242108 human ensembl 74_37 +1 known silent c.864 p.T288 0.360 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_HhH_motif,pfam_Endo/exonuclease/phosphatase,pfam_GspK,superfamily_Endo/exonuclease/phosphatase,superfamily_RuvA_2-like,smart_Hlx-hairpin-Hlx_DNA-bd_motif,tigrfam_Competence_ComEA_HhH - no_errors EEPD1 HGNC ENSG00000122547 tier1 - - 21 0 0.00 32 6 15.38 EFNA1 0 genome.wustl.edu 37 1 155100484 155100484 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 155100484 155100484 C A SNP EFNA1 ENST00000368407 human ensembl 74_37 +1 known missense c.31 p.L11M 0.999 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNA1 HGNC ENSG00000169242 tier1 - - 51 0 0.00 53 20 27.40 EGFLAM 0 genome.wustl.edu 37 5 38438444 38438444 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 38438444 38438444 C T SNP EGFLAM ENST00000354891 human ensembl 74_37 +1 known missense c.2351 p.A784V 0.535 superfamily_ConA-like_lec_gl_sf,pfscan_EG-like_dom,pfscan_Laminin_G pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 tier1 rs200259259 - 40 0 0.00 86 30 25.86 EGFR 0 genome.wustl.edu 37 7 55231514 55231514 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 55231514 55231514 C T SNP EGFR ENST00000275493 human ensembl 74_37 +1 known missense c.1720 p.R574W 0.987 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,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 EGFR HGNC ENSG00000146648 tier1 - - 11 0 0.00 17 7 29.17 EI24 0 genome.wustl.edu 37 11 125454387 125454387 + RNA SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 125454387 125454387 G T SNP EI24 ENST00000530985 human ensembl 74_37 +1 known rna NULL NULL 0.925 - - - no_errors EI24 HGNC ENSG00000149547 tier1 - - 37 0 0.00 22 25 52.08 EIF2B5 0 genome.wustl.edu 37 3 183854553 183854553 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 183854553 183854553 T - DEL EIF2B5 ENST00000471832 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors EIF2B5 HGNC ENSG00000145191 tier1 17 0 0.00 23 7 23.33 EIF5A2 0 genome.wustl.edu 37 3 170611036 170611037 + RNA INS - - A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 170611036 170611037 - A INS EIF5A2 ENST00000460117 human ensembl 74_37 -1 putative rna NULL NULL 0.202:0.244 - - - no_errors EIF5A2 HGNC ENSG00000163577 tier1 12 0 0.00 26 6 18.75 ELAVL2 0 genome.wustl.edu 37 9 23704941 23704941 + Silent SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 23704941 23704941 A G SNP ELAVL2 ENST00000380117 human ensembl 74_37 -1 known silent c.462 p.S154 0.993 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,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 - - 17 0 0.00 14 10 40.00 ELAVL3 0 genome.wustl.edu 37 19 11577605 11577605 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 11577605 11577605 C - DEL ELAVL3 ENST00000359227 human ensembl 74_37 -1 known frame_shift_del c.47 p.G16fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL3 HGNC ENSG00000196361 tier1 17 0 0.00 34 15 30.61 ELMO2 0 genome.wustl.edu 37 20 45000560 45000560 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 45000560 45000560 G T SNP ELMO2 ENST00000439931 human ensembl 74_37 -1 known missense c.1501 p.P501T 1.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO2 HGNC ENSG00000062598 tier1 - - 30 0 0.00 53 11 17.19 EML4 0 genome.wustl.edu 37 2 42490438 42490438 + Silent SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 42490438 42490438 T C SNP EML4 ENST00000318522 human ensembl 74_37 +1 known silent c.633 p.T211 0.072 NULL pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML4 HGNC ENSG00000143924 tier1 - - 72 0 0.00 77 30 28.04 EML4 0 genome.wustl.edu 37 2 42492077 42492077 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 42492077 42492077 A - DEL EML4 ENST00000401738 human ensembl 74_37 +1 novel frame_shift_del c.686 p.N231fs 1.000 NULL pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML4 HGNC ENSG00000143924 tier1 38 0 0.00 39 30 43.48 EML4 0 genome.wustl.edu 37 2 42557121 42557121 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 42557121 42557121 A G SNP EML4 ENST00000318522 human ensembl 74_37 +1 known missense c.2720 p.N907S 0.006 NULL pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML4 HGNC ENSG00000143924 tier1 - - 25 0 0.00 15 16 51.61 EMP1 0 genome.wustl.edu 37 12 13364427 13364427 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 13364427 13364427 A - DEL EMP1 ENST00000542289 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors EMP1 HGNC ENSG00000134531 tier1 44 0 0.00 43 11 20.37 ENC1 0 genome.wustl.edu 37 5 73931058 73931058 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 73931058 73931058 T C SNP ENC1 ENST00000302351 human ensembl 74_37 -1 known missense c.1253 p.D418G 1.000 pfam_Kelch_1,smart_Kelch_1,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 ENC1 HGNC ENSG00000171617 tier1 - - 19 0 0.00 6 7 53.85 ENO1 0 genome.wustl.edu 37 1 8928104 8928104 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 8928104 8928104 T C SNP ENO1 ENST00000234590 human ensembl 74_37 -1 known missense c.253 p.T85A 0.442 pfam_Enolase_N,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO1 HGNC ENSG00000074800 tier1 - - 41 0 0.00 19 30 61.22 ENOX2 0 genome.wustl.edu 37 X 129804065 129804065 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 X 129804065 129804065 G A SNP ENOX2 ENST00000338144 human ensembl 74_37 -1 known missense c.655 p.R219C 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX2 HGNC ENSG00000165675 tier1 - - 30 0 0.00 21 72 76.60 ENPP7 0 genome.wustl.edu 37 17 77710926 77710926 + Silent SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 77710926 77710926 T C SNP ENPP7 ENST00000328313 human ensembl 74_37 +1 known silent c.1113 p.P371 0.967 superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core - no_errors ENPP7 HGNC ENSG00000182156 tier1 - - 28 0 0.00 38 20 34.48 ENSG00000161103 0 genome.wustl.edu 37 22 18839230 18839230 + RNA SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 22 18839230 18839230 G A SNP ENSG00000161103 ENST00000412938 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors AC008132.13 Clone_based_vega_gene ENSG00000161103 tier1 - - 29 0 0.00 46 12 20.69 ENSG00000161103 0 genome.wustl.edu 37 22 18844558 18844558 + RNA SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 22 18844558 18844558 C T SNP ENSG00000161103 ENST00000412938 human ensembl 74_37 +1 known rna NULL NULL 0.097 - - - no_errors AC008132.13 Clone_based_vega_gene ENSG00000161103 13 0 0.00 30 4 11.76 ENSG00000173213 0 genome.wustl.edu 37 18 49506 49506 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 18 49506 49506 C T SNP ENSG00000173213 ENST00000308911 human ensembl 74_37 -1 known missense c.52 p.A18T 0.997 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors RP11-683L23.1 Clone_based_vega_gene ENSG00000173213 tier1 - - 238 0 0.00 656 122 15.64 ENSG00000203849 0 genome.wustl.edu 37 1 142714101 142714102 + RNA INS - - AC TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 142714101 142714102 - AC INS ENSG00000203849 ENST00000369381 human ensembl 74_37 -1 known rna NULL NULL 0.029:0.051 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 tier1 27 0 0.00 26 7 21.21 ENSG00000207091 0 genome.wustl.edu 37 15 34607028 34607029 + RNA DEL AA AA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 15 34607028 34607029 AA - DEL ENSG00000207091 ENST00000384363 human ensembl 74_37 +1 novel rna NULL NULL 0.866:0.852 - - - no_errors Y_RNA RFAM ENSG00000207091 tier1 8 0 0.00 5 2 28.57 ENSG00000211518 0 genome.wustl.edu 37 7 88269891 88269892 + RNA DEL TT TT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 88269891 88269892 TT - DEL ENSG00000211518 ENST00000390184 human ensembl 74_37 +1 novel rna NULL NULL 0.475:0.436 - - - no_errors AC006988.1 Clone_based_ensembl_gene ENSG00000211518 tier1 20 0 0.00 9 4 30.77 ENSG00000212045 0 genome.wustl.edu 37 4 29751861 29751861 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 29751861 29751861 A - DEL ENSG00000212045 ENST00000390756 human ensembl 74_37 +1 novel rna NULL NULL 1.000 - - - no_errors AC109351.1 Clone_based_ensembl_gene ENSG00000212045 tier1 38 0 0.00 21 22 51.16 ENSG00000214733 0 genome.wustl.edu 37 8 144872541 144872541 + RNA SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 144872541 144872541 C T SNP ENSG00000214733 ENST00000527139 human ensembl 74_37 +1 known rna NULL NULL 0.600 - - - no_errors RP11-429J17.8 Clone_based_vega_gene ENSG00000214733 tier1 - - 53 0 0.00 143 52 26.67 ENSG00000216102 0 genome.wustl.edu 37 19 9931204 9931204 + RNA SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 9931204 9931204 A G SNP ENSG00000216102 ENST00000401283 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AC008752.1 Clone_based_ensembl_gene ENSG00000216102 tier1 - - 33 0 0.00 43 11 19.30 ENSG00000221060 0 genome.wustl.edu 37 14 70270922 70270922 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 70270922 70270922 T - DEL ENSG00000221060 ENST00000408133 human ensembl 74_37 -1 novel rna NULL NULL 0.003 - - - no_errors SNORA11 RFAM ENSG00000221060 tier1 14 0 0.00 18 7 28.00 ENSG00000221219 0 genome.wustl.edu 37 4 54969782 54969782 + RNA SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 54969782 54969782 A G SNP ENSG00000221219 ENST00000408292 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors AC110298.1 Clone_based_ensembl_gene ENSG00000221219 tier1 rs56366082 - 33 0 0.00 70 11 13.58 ENSG00000221259 0 genome.wustl.edu 37 12 111511846 111511846 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 111511846 111511846 A - DEL ENSG00000221259 ENST00000408332 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AC002978.1 Clone_based_ensembl_gene ENSG00000221259 tier1 34 0 0.00 24 13 35.14 ENSG00000221358 0 genome.wustl.edu 37 15 30906094 30906094 + RNA SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 15 30906094 30906094 C T SNP ENSG00000221358 ENST00000408431 human ensembl 74_37 +1 novel rna NULL NULL 0.558 - - - no_errors AC026150.1 Clone_based_ensembl_gene ENSG00000221358 tier1 - - 68 0 0.00 22 106 82.81 ENSG00000221559 0 genome.wustl.edu 37 6 114026117 114026117 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 114026117 114026117 A - DEL ENSG00000221559 ENST00000408632 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AL357519.1 Clone_based_ensembl_gene ENSG00000221559 tier1 41 0 0.00 30 17 36.17 ENSG00000221717 0 genome.wustl.edu 37 10 128245580 128245581 + RNA DEL AA AA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 128245580 128245581 AA - DEL ENSG00000221717 ENST00000408790 human ensembl 74_37 -1 novel rna NULL NULL 0.006:0.005 - - - no_errors AL583860.1 Clone_based_ensembl_gene ENSG00000221717 tier1 15 0 0.00 17 4 19.05 ENSG00000222899 0 genome.wustl.edu 37 14 27396917 27396920 + RNA DEL AAAA AAAA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 27396917 27396920 AAAA - DEL ENSG00000222899 ENST00000410967 human ensembl 74_37 +1 novel rna NULL NULL 0.000:0.001:0.000:0.000 - - - no_errors AL110292.1 Clone_based_ensembl_gene ENSG00000222899 tier1 94 0 0.00 109 51 31.87 ENSG00000223180 0 genome.wustl.edu 37 15 84285004 84285006 + RNA DEL TTT TTT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 15 84285004 84285006 TTT - DEL ENSG00000223180 ENST00000411248 human ensembl 74_37 +1 novel rna NULL NULL 0.148:0.156:0.163 - - - no_errors AC087738.1 Clone_based_ensembl_gene ENSG00000223180 tier1 22 0 0.00 24 4 14.29 ENSG00000223642 0 genome.wustl.edu 37 2 160252219 160252219 + RNA SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 160252219 160252219 C A SNP ENSG00000223642 ENST00000594921 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors AC008277.1 Clone_based_vega_gene ENSG00000223642 tier1 - - 26 0 0.00 38 5 11.63 ENSG00000224643 0 genome.wustl.edu 37 2 183948142 183948142 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 183948142 183948142 T - DEL ENSG00000224643 ENST00000444562 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC064871.3 Clone_based_vega_gene ENSG00000224643 tier1 14 0 0.00 10 15 60.00 ENSG00000224666 0 genome.wustl.edu 37 6 36359695 36359698 + RNA DEL TTTA TTTA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TTTA TTTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 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 11 0 0.00 5 6 54.55 ENSG00000226849 0 genome.wustl.edu 37 1 11132250 11132251 + RNA INS - - A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 11132250 11132251 - A INS ENSG00000226849 ENST00000452378 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP4-635E18.7 Clone_based_vega_gene ENSG00000226849 tier1 31 0 0.00 20 15 42.86 ENSG00000232220 0 genome.wustl.edu 37 19 54378026 54378029 + RNA DEL TTTT TTTT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TTTT TTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 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 80 0 0.00 70 6 7.89 ENSG00000232274 0 genome.wustl.edu 37 1 143210446 143210446 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 143210446 143210446 T 0 DEL ENSG00000232274 ENST00000412204 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-782C8.2 Clone_based_vega_gene ENSG00000232274 45 0 0.00 60 7 10.45 ENSG00000235381 0 genome.wustl.edu 37 6 155575539 155575539 + RNA DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 155575539 155575539 C - DEL ENSG00000235381 ENST00000435295 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-477D19.2 Clone_based_vega_gene ENSG00000235381 tier1 28 0 0.00 26 9 25.71 ENSG00000235872 0 genome.wustl.edu 37 12 68053151 68053151 + RNA SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 68053151 68053151 C T SNP ENSG00000235872 ENST00000425371 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-335O4.3 Clone_based_vega_gene ENSG00000235872 tier1 rs4913352 - 44 0 0.00 27 30 52.63 ENSG00000235994 0 genome.wustl.edu 37 6 168376899 168376900 + RNA INS - - G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 168376899 168376900 - G INS ENSG00000235994 ENST00000538528 human ensembl 74_37 -1 known rna NULL NULL 0.995:0.987 - - - no_errors RP3-470B24.5 Clone_based_vega_gene ENSG00000235994 tier1 27 0 0.00 33 14 29.79 ENSG00000236817 0 genome.wustl.edu 37 1 247729207 247729209 + RNA DEL TTT TTT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 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 40 0 0.00 23 5 17.86 ENSG00000237480 0 genome.wustl.edu 37 1 106623841 106623841 + RNA SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 106623841 106623841 G A SNP ENSG00000237480 ENST00000429608 human ensembl 74_37 +1 known rna NULL NULL 0.980 - - - no_errors RP5-947P14.1 Clone_based_vega_gene ENSG00000237480 tier1 - - 63 0 0.00 64 18 21.95 ENSG00000239642 0 genome.wustl.edu 37 5 131281107 131281107 + RNA SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 131281107 131281107 G A SNP ENSG00000239642 ENST00000411822 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC034228.7 Clone_based_vega_gene ENSG00000239642 tier1 - - 27 0 0.00 16 59 78.67 ENSG00000242288 0 genome.wustl.edu 37 10 75487193 75487193 + RNA SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 75487193 75487193 C T SNP ENSG00000242288 ENST00000399449 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-464F9.1 Clone_based_vega_gene ENSG00000242288 tier1 - - 84 0 0.00 86 17 16.50 ENSG00000244306 0 genome.wustl.edu 37 14 19891212 19891213 + RNA DEL TG TG - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 19891212 19891213 TG 0 DEL ENSG00000244306 ENST00000547285 human ensembl 74_37 -1 known rna NULL NULL 0.020:0.023 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene ENSG00000244306 44 0 0.00 78 8 9.30 ENSG00000245156 0 genome.wustl.edu 37 11 66039143 66039143 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 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 13 0 0.00 45 29 39.19 ENSG00000248166 0 genome.wustl.edu 37 19 54848431 54848431 + RNA SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 54848431 54848431 C T SNP ENSG00000248166 ENST00000507363 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC008984.2 Clone_based_vega_gene ENSG00000248166 tier1 - - 32 0 0.00 12 39 76.47 ENSG00000248840 0 genome.wustl.edu 37 4 3314644 3314644 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 3314644 3314644 A - DEL ENSG00000248840 ENST00000600073 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors RP11-357G3.2 Clone_based_vega_gene ENSG00000248840 tier1 9 0 0.00 7 9 56.25 ENSG00000251273 0 genome.wustl.edu 37 5 25190618 25190618 + RNA SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 25190618 25190618 C T SNP ENSG00000251273 ENST00000507600 human ensembl 74_37 -1 known rna NULL NULL 0.024 - - - no_errors RP11-549K20.1 Clone_based_vega_gene ENSG00000251273 tier1 - - 27 0 0.00 99 16 13.91 ENSG00000251637 0 genome.wustl.edu 37 11 67656343 67656343 + RNA DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 67656343 67656343 C - DEL ENSG00000251637 ENST00000511677 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-119D9.1 Clone_based_vega_gene ENSG00000251637 tier1 32 0 0.00 41 57 58.16 ENSG00000254921 0 genome.wustl.edu 37 11 8060205 8060205 + RNA SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 8060205 8060205 G T SNP ENSG00000254921 ENST00000528151 human ensembl 74_37 -1 known rna NULL NULL 0.103 - - - no_errors RP11-236J17.6 Clone_based_vega_gene ENSG00000254921 tier1 - - 18 0 0.00 5 8 61.54 ENSG00000255182 0 genome.wustl.edu 37 8 145724495 145724495 + RNA SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 145724495 145724495 C T SNP ENSG00000255182 ENST00000527086 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2517M22.14 Clone_based_vega_gene ENSG00000255182 tier1 - - 16 0 0.00 20 15 42.86 ENSG00000255835 0 genome.wustl.edu 37 1 226075158 226075158 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 226075158 226075158 C T SNP ENSG00000255835 ENST00000432920 human ensembl 74_37 -1 putative missense c.1003 p.A335T 0.000 NULL superfamily_6-PGluconate_DH_C-like - no_errors RP4-559A3.7 Clone_based_vega_gene ENSG00000255835 tier1 - - 24 0 0.00 20 7 25.93 ENSG00000256341 0 genome.wustl.edu 37 11 63886077 63886079 + RNA DEL TTC TTC - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 63886077 63886079 TTC - DEL ENSG00000256341 ENST00000543817 human ensembl 74_37 -1 known rna NULL NULL 0.030:0.040:0.008 - - - no_errors RP11-21A7A.3 Clone_based_vega_gene ENSG00000256341 tier1 51 0 0.00 72 12 14.29 ENSG00000256341 0 genome.wustl.edu 37 11 63886078 63886079 + RNA DEL TC TC - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 63886078 63886079 TC - DEL ENSG00000256341 ENST00000543817 human ensembl 74_37 -1 known rna NULL NULL 0.040:0.008 - - - no_errors RP11-21A7A.3 Clone_based_vega_gene ENSG00000256341 tier1 50 0 0.00 61 11 15.28 ENSG00000256518 0 genome.wustl.edu 37 11 71870646 71870646 + RNA SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 71870646 71870646 T C SNP ENSG00000256518 ENST00000542477 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-807H22.5 Clone_based_vega_gene ENSG00000256518 tier1 - - 27 0 0.00 29 20 40.82 ENSG00000257434 0 genome.wustl.edu 37 12 75435987 75435988 + RNA DEL TT TT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 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 17 0 0.00 18 11 37.93 ENSG00000258727 0 genome.wustl.edu 37 14 24037246 24037246 + RNA SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 24037246 24037246 C T SNP ENSG00000258727 ENST00000555968 human ensembl 74_37 +1 known rna NULL NULL 0.971 - - - no_errors RP11-66N24.3 Clone_based_vega_gene ENSG00000258727 tier1 - - 34 0 0.00 89 5 5.32 ENSG00000260108 0 genome.wustl.edu 37 16 69499982 69499982 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 69499982 69499982 T - DEL ENSG00000260108 ENST00000567834 human ensembl 74_37 +1 known rna NULL NULL 0.053 - - - no_errors RP11-140H17.1 Clone_based_vega_gene ENSG00000260108 tier1 86 0 0.00 140 19 11.95 ENSG00000261093 0 genome.wustl.edu 37 16 2647921 2647922 + RNA INS - - A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 2647921 2647922 - A INS ENSG00000261093 ENST00000562166 human ensembl 74_37 -1 known rna NULL NULL 0.705:0.576 - - - no_errors CTD-3126B10.1 Clone_based_vega_gene ENSG00000261093 tier1 19 0 0.00 18 12 40.00 ENSG00000262160 0 genome.wustl.edu 37 16 68262364 68262364 + RNA SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 68262364 68262364 T C SNP ENSG00000262160 ENST00000571197 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-96D1.11 Clone_based_vega_gene ENSG00000262160 tier1 - - 11 0 0.00 23 18 43.90 ENSG00000263875 0 genome.wustl.edu 37 9 96327977 96327978 + RNA DEL AA AA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 96327977 96327978 AA - DEL ENSG00000263875 ENST00000582353 human ensembl 74_37 -1 novel rna NULL NULL 0.979:1.000 - - - no_errors AL353629.1 Clone_based_ensembl_gene ENSG00000263875 tier1 27 0 0.00 17 12 41.38 ENSG00000263887 0 genome.wustl.edu 37 17 60364132 60364132 + RNA SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 60364132 60364132 G A SNP ENSG00000263887 ENST00000602493 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-51L5.5 Clone_based_vega_gene ENSG00000263887 tier1 - - 79 0 0.00 72 21 22.58 ENSG00000266002 0 genome.wustl.edu 37 17 57477848 57477849 + RNA DEL TT TT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 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 29 0 0.00 17 9 34.62 ENSG00000266156 0 genome.wustl.edu 37 19 20988370 20988370 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 20988370 20988370 T - DEL ENSG00000266156 ENST00000582722 human ensembl 74_37 +1 novel rna NULL NULL 0.001 - - - no_errors AC010329.1 Clone_based_ensembl_gene ENSG00000266156 tier1 12 0 0.00 3 9 75.00 ENSG00000267427 0 genome.wustl.edu 37 19 6210417 6210418 + RNA INS - - T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 6210417 6210418 - T INS ENSG00000267427 ENST00000586154 human ensembl 74_37 -1 known rna NULL NULL 0.998:0.999 - - - no_errors CTC-503J8.6 Clone_based_vega_gene ENSG00000267427 tier1 18 0 0.00 28 7 20.00 ENSG00000267896 0 genome.wustl.edu 37 19 50363638 50363639 + RNA INS - - G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 50363638 50363639 - G INS ENSG00000267896 ENST00000596624 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors AC018766.4 Clone_based_vega_gene ENSG00000267896 tier1 20 0 0.00 17 7 29.17 ENSG00000269243 0 genome.wustl.edu 37 19 16244264 16244264 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 16244264 16244264 T - DEL ENSG00000269243 ENST00000599676 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2231E14.8 Clone_based_vega_gene ENSG00000269243 tier1 9 0 0.00 15 9 37.50 ENSG00000269318 0 genome.wustl.edu 37 19 4357145 4357145 + RNA SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 4357145 4357145 C T SNP ENSG00000269318 ENST00000593524 human ensembl 74_37 -1 known rna NULL NULL 0.014 - - - no_errors AC007292.3 Clone_based_vega_gene ENSG00000269318 tier1 - - 31 0 0.00 7 33 82.50 ENSG00000269604 0 genome.wustl.edu 37 19 4794097 4794097 + RNA SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 4794097 4794097 C T SNP ENSG00000269604 ENST00000601192 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC005523.2 Clone_based_vega_gene ENSG00000269604 tier1 - - 52 0 0.00 36 40 52.63 ENSG00000270433 0 genome.wustl.edu 37 14 23764733 23764733 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 23764733 23764733 A - DEL ENSG00000270433 ENST00000604456 human ensembl 74_37 +1 known rna NULL NULL 0.835 - - - no_errors RP11-124D2.7 Clone_based_vega_gene ENSG00000270433 tier1 16 0 0.00 23 12 34.29 ENSG00000272647 0 genome.wustl.edu 37 7 99197892 99197892 + Silent SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 99197892 99197892 T C SNP ENSG00000272647 ENST00000455905 human ensembl 74_37 +1 known silent c.198 p.I66 0.000 NULL NULL - no_errors GS1-259H13.10 Clone_based_vega_gene ENSG00000272647 tier1 - - 75 0 0.00 99 29 22.66 ENSG00000272655 0 genome.wustl.edu 37 7 44053949 44053949 + RNA SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 44053949 44053949 G A SNP ENSG00000272655 ENST00000326391 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors POLR2J4 Clone_based_vega_gene ENSG00000272655 tier1 - - 26 0 0.00 44 23 34.33 ENSG00000273455 0 genome.wustl.edu 37 3 135806703 135806703 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 135806703 135806703 T - DEL ENSG00000273455 ENST00000608883 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-305O4.3 Clone_based_vega_gene ENSG00000273455 tier1 42 0 0.00 38 24 38.71 ENTPD1-AS1 0 genome.wustl.edu 37 10 97779109 97779109 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 97779109 97779109 A - DEL ENTPD1-AS1 ENST00000458228 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ENTPD1-AS1 HGNC ENSG00000226688 tier1 36 0 0.00 24 9 27.27 EPG5 0 genome.wustl.edu 37 18 43459143 43459143 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 18 43459143 43459143 A - DEL EPG5 ENST00000282041 human ensembl 74_37 -1 known frame_shift_del c.5704 p.Y1902fs 1.000 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 tier1 28 0 0.00 24 5 17.24 EPHA8 0 genome.wustl.edu 37 1 22903132 22903133 + Frame_Shift_Ins INS - - CT TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 22903132 22903133 - CT INS EPHA8 ENST00000166244 human ensembl 74_37 +1 known frame_shift_ins c.582_583 p.R197fs 1.000:1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom 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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA8 HGNC ENSG00000070886 tier1 49 0 0.00 51 13 20.31 EPPK1 0 genome.wustl.edu 37 8 144947011 144947011 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 144947011 144947011 G A SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known silent c.411 p.I137 0.316 smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 tier1 - - 34 0 0.00 118 48 28.57 EPPK1 0 genome.wustl.edu 37 8 144942928 144942928 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 144942928 144942928 C T SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known silent c.4494 p.L1498 0.942 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 12 0 0.00 36 3 7.69 EPS15 0 genome.wustl.edu 37 1 51887719 51887719 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 51887719 51887719 A - DEL EPS15 ENST00000493793 human ensembl 74_37 -1 known rna NULL NULL 0.380 - - - no_errors EPS15 HGNC ENSG00000085832 tier1 9 0 0.00 5 3 37.50 ERBB4 0 genome.wustl.edu 37 2 212248355 212248355 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 212248355 212248355 C - DEL ERBB4 ENST00000342788 human ensembl 74_37 -1 known frame_shift_del c.3912 p.N1305fs 0.999 NULL 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 32 0 0.00 34 8 19.05 ERCC6 0 genome.wustl.edu 37 10 50740752 50740752 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 50740752 50740752 C T SNP ERCC6 ENST00000355832 human ensembl 74_37 -1 known missense c.259 p.A87T 0.913 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 ERCC6 HGNC ENSG00000225830 tier1 - - 54 0 0.00 51 33 39.29 ERN2 0 genome.wustl.edu 37 16 23718096 23718096 + Frame_Shift_Del DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 23718096 23718096 G - DEL ERN2 ENST00000256797 human ensembl 74_37 -1 known frame_shift_del c.610 p.R204fs 0.894 superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom - no_errors ERN2 HGNC ENSG00000134398 tier1 24 0 0.00 53 14 20.90 ERO1LB 0 genome.wustl.edu 37 1 236399648 236399648 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 236399648 236399648 G A SNP ERO1LB ENST00000354619 human ensembl 74_37 -1 known missense c.556 p.R186C 1.000 pfam_Ero1,pirsf_Ero1 pfam_Ero1,pirsf_Ero1 - no_errors ERO1LB HGNC ENSG00000086619 tier1 - - 39 0 0.00 64 7 9.86 ESCO1 0 genome.wustl.edu 37 18 19153489 19153489 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 18 19153489 19153489 A - DEL ESCO1 ENST00000269214 human ensembl 74_37 -1 known frame_shift_del c.1316 p.L439fs 0.592 NULL NULL - no_errors ESCO1 HGNC ENSG00000141446 tier1 28 0 0.00 41 8 16.33 ESRP2 0 genome.wustl.edu 37 16 68264764 68264764 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 68264764 68264764 G T SNP ESRP2 ENST00000565858 human ensembl 74_37 -1 known missense c.1908 p.N636K 1.000 NULL superfamily_RNaseH-like_dom,smart_RRM_dom - no_errors ESRP2 HGNC ENSG00000103067 tier1 - - 91 0 0.00 167 13 7.22 ETNK2 0 genome.wustl.edu 37 1 204110634 204110634 + RNA DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 204110634 204110634 G - DEL ETNK2 ENST00000477125 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ETNK2 HGNC ENSG00000143845 tier1 11 0 0.00 11 4 26.67 EWSR1 0 genome.wustl.edu 37 22 29693886 29693886 + Frame_Shift_Del DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 22 29693886 29693886 G - DEL EWSR1 ENST00000414183 human ensembl 74_37 +1 known frame_shift_del c.1379 p.G461fs 0.999 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors EWSR1 HGNC ENSG00000182944 tier1 26 0 0.00 41 9 18.00 EXOC6B 0 genome.wustl.edu 37 2 72406346 72406346 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 72406346 72406346 A - DEL EXOC6B ENST00000471335 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors EXOC6B HGNC ENSG00000144036 tier1 9 0 0.00 13 6 31.58 EXOSC8 0 genome.wustl.edu 37 13 37580070 37580070 + Missense_Mutation SNP T T A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 13 37580070 37580070 T A SNP EXOSC8 ENST00000389704 human ensembl 74_37 +1 known missense c.252 p.D84E 1.000 pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC8 HGNC ENSG00000120699 tier1 - - 47 0 0.00 33 25 43.10 EYA1 0 genome.wustl.edu 37 8 72128937 72128938 + Frame_Shift_Ins INS - - T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 72128937 72128938 0 T INS EYA1 ENST00000340726 human ensembl 74_37 -1 known frame_shift_ins c.1350_1349 p.N450fs 0.960:1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA1 HGNC ENSG00000104313 102 0 0.00 201 19 8.64 FAAH2 0 genome.wustl.edu 37 X 57318978 57318978 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 X 57318978 57318978 C T SNP FAAH2 ENST00000374900 human ensembl 74_37 +1 known silent c.240 p.D80 0.972 pfam_Amidase,superfamily_Amidase_dom pfam_Amidase,superfamily_Amidase_dom - no_errors FAAH2 HGNC ENSG00000165591 tier1 - - 14 0 0.00 5 17 77.27 FABP5P3 0 genome.wustl.edu 37 7 152139920 152139920 + RNA SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 152139920 152139920 A G SNP FABP5P3 ENST00000477993 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors FABP5P3 HGNC ENSG00000241735 tier1 - - 23 0 0.00 25 21 45.65 FAF1 0 genome.wustl.edu 37 1 51210386 51210386 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 51210386 51210386 T - DEL FAF1 ENST00000371778 human ensembl 74_37 -1 known frame_shift_del c.429 p.G144fs 1.000 NULL pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX - no_errors FAF1 HGNC ENSG00000185104 tier1 57 0 0.00 32 20 38.46 FAM118A 0 genome.wustl.edu 37 22 45736690 45736691 + RNA DEL TT TT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 22 45736690 45736691 TT - DEL FAM118A ENST00000479180 human ensembl 74_37 +1 known rna NULL NULL 0.010:0.014 - - - no_errors FAM118A HGNC ENSG00000100376 tier1 12 0 0.00 13 7 35.00 FAM153B 0 genome.wustl.edu 37 5 175516516 175516516 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 175516516 175516516 G A SNP FAM153B ENST00000253490 human ensembl 74_37 +1 known missense c.226 p.V76I 0.000 NULL prints_FAM153 - no_errors FAM153B HGNC ENSG00000182230 tier1 - - 13 0 0.00 6 11 64.71 FAM166B 0 genome.wustl.edu 37 9 35562401 35562401 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 35562401 35562401 G T SNP FAM166B ENST00000447837 human ensembl 74_37 -1 known missense c.647 p.T216N 0.976 NULL pfam_UPF0573/UPF0605 - no_errors FAM166B HGNC ENSG00000215187 61 0 0.00 142 13 8.39 FAM178B 0 genome.wustl.edu 37 2 97674870 97674870 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 97674870 97674870 T C SNP FAM178B ENST00000417561 human ensembl 74_37 -1 known missense c.136 p.K46E 0.003 NULL NULL - no_errors FAM178B HGNC ENSG00000168754 tier1 rs2698405 - 174 0 0.00 320 52 13.98 FAM178B 0 genome.wustl.edu 37 2 97674903 97674903 + Missense_Mutation SNP C C G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 97674903 97674903 C G SNP FAM178B ENST00000417561 human ensembl 74_37 -1 known missense c.103 p.D35H 0.003 NULL NULL - no_errors FAM178B HGNC ENSG00000168754 tier1 rs2551258 - 164 0 0.00 294 70 19.23 FAM198A 0 genome.wustl.edu 37 3 43074481 43074481 + Silent SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 43074481 43074481 T C SNP FAM198A ENST00000273146 human ensembl 74_37 +1 known silent c.726 p.C242 0.085 NULL NULL - no_errors FAM198A HGNC ENSG00000144649 tier1 - - 22 0 0.00 16 27 62.79 FAM206A 0 genome.wustl.edu 37 9 111698645 111698645 + Silent SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 111698645 111698645 T C SNP FAM206A ENST00000322940 human ensembl 74_37 +1 known silent c.189 p.I63 1.000 superfamily_Single_hybrid_motif pfam_GCV_H,superfamily_Single_hybrid_motif - no_errors FAM206A HGNC ENSG00000119328 tier1 - - 28 0 0.00 28 9 24.32 FAM20B 0 genome.wustl.edu 37 1 179041052 179041052 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 179041052 179041052 C T SNP FAM20B ENST00000263733 human ensembl 74_37 +1 known missense c.1003 p.R335W 1.000 pfam_DUF1193 pfam_DUF1193 - no_errors FAM20B HGNC ENSG00000116199 tier1 - - 29 0 0.00 22 14 37.84 FAM211B 0 genome.wustl.edu 37 22 24984229 24984229 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 22 24984229 24984229 C T SNP FAM211B ENST00000318753 human ensembl 74_37 -1 known silent c.375 p.S125 1.000 NULL NULL - no_errors FAM211B HGNC ENSG00000178026 tier1 - - 62 0 0.00 70 54 43.55 FAM218A 0 genome.wustl.edu 37 4 165878447 165878447 + Silent SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 165878447 165878447 C A SNP FAM218A ENST00000513876 human ensembl 74_37 +1 known silent c.273 p.R91 0.000 NULL NULL - no_errors FAM218A HGNC ENSG00000250486 tier1 - - 25 0 0.00 17 18 51.43 FAM26F 0 genome.wustl.edu 37 6 116783245 116783245 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 116783245 116783245 C T SNP FAM26F ENST00000368605 human ensembl 74_37 +1 known silent c.153 p.Y51 0.807 NULL NULL - no_errors FAM26F HGNC ENSG00000188820 tier1 - - 20 0 0.00 15 6 28.57 FAM71E2 0 genome.wustl.edu 37 19 55874319 55874319 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 55874319 55874319 C T SNP FAM71E2 ENST00000424985 human ensembl 74_37 -1 novel missense c.116 p.R39H 0.996 NULL pfam_DUF3699 - no_errors FAM71E2 HGNC ENSG00000180043 tier1 - - 48 0 0.00 28 20 41.67 FAM84B 0 genome.wustl.edu 37 8 127569172 127569172 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 127569172 127569172 G T SNP FAM84B ENST00000304916 human ensembl 74_37 -1 known missense c.463 p.L155M 1.000 pfam_LRAT-like_dom pfam_LRAT-like_dom - no_errors FAM84B HGNC ENSG00000168672 15 0 0.00 102 15 12.82 FAM86B3P 0 genome.wustl.edu 37 8 8095879 8095879 + RNA SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 8095879 8095879 C T SNP FAM86B3P ENST00000590591 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM86B3P HGNC ENSG00000173295 70 0 0.00 92 5 5.15 FAM86JP 0 genome.wustl.edu 37 3 125647977 125647977 + RNA SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 125647977 125647977 G A SNP FAM86JP ENST00000467239 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM86JP HGNC ENSG00000171084 tier1 - - 20 0 0.00 13 12 48.00 FAP 0 genome.wustl.edu 37 2 163055317 163055317 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 163055317 163055317 T C SNP FAP ENST00000188790 human ensembl 74_37 -1 known missense c.1352 p.Y451C 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors FAP HGNC ENSG00000078098 tier1 - - 61 0 0.00 54 23 29.87 FASN 0 genome.wustl.edu 37 17 80046083 80046083 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 80046083 80046083 C T SNP FASN ENST00000306749 human ensembl 74_37 -1 known silent c.2694 p.T898 0.018 smart_PKS_dehydratase 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 - - 39 0 0.00 56 16 22.22 FAT2 0 genome.wustl.edu 37 5 150922881 150922882 + Frame_Shift_Del DEL GA GA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 150922881 150922882 GA - DEL FAT2 ENST00000261800 human ensembl 74_37 -1 known frame_shift_del c.7807_7806 p.P2603fs 1.000:1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 tier1 111 0 0.00 48 71 59.66 FBLN2 0 genome.wustl.edu 37 3 13679189 13679189 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 13679189 13679189 G A SNP FBLN2 ENST00000404922 human ensembl 74_37 +1 known missense c.3466 p.A1156T 0.984 NULL pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 tier1 - - 18 0 0.00 9 24 72.73 FBRS 0 genome.wustl.edu 37 16 30680549 30680549 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 30680549 30680549 C T SNP FBRS ENST00000356166 human ensembl 74_37 +1 known silent c.2526 p.A842 0.000 NULL prints_AUTS2 - no_errors FBRS HGNC ENSG00000156860 tier1 - - 8 0 0.00 6 8 57.14 FBXL7 0 genome.wustl.edu 37 5 15928463 15928463 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 15928463 15928463 C T SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known missense c.592 p.R198W 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL7 HGNC ENSG00000183580 tier1 - - 50 0 0.00 132 19 12.58 FBXO10 0 genome.wustl.edu 37 9 37537267 37537267 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 37537267 37537267 G A SNP FBXO10 ENST00000432825 human ensembl 74_37 -1 known missense c.1259 p.A420V 1.000 smart_Carb-bd_sugar_hydrolysis-dom pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,pfscan_F-box_dom,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO10 HGNC ENSG00000147912 tier1 - - 8 0 0.00 29 20 40.82 FBXO15 0 genome.wustl.edu 37 18 71749238 71749238 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 18 71749238 71749238 T - DEL FBXO15 ENST00000419743 human ensembl 74_37 -1 known frame_shift_del c.1187 p.N396fs 0.379 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO15 HGNC ENSG00000141665 tier1 48 0 0.00 24 25 51.02 FBXO47 0 genome.wustl.edu 37 17 37093481 37093483 + In_Frame_Del DEL TAG TAG - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TAG TAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 37093481 37093483 TAG - DEL FBXO47 ENST00000378079 human ensembl 74_37 -1 known in_frame_del c.1306_1304 p.AN435in_frame_delD 1.000:0.998:1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO47 HGNC ENSG00000204952 tier1 22 0 0.00 29 13 30.95 FBXW4 0 genome.wustl.edu 37 10 103386257 103386257 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 103386257 103386257 T - DEL FBXW4 ENST00000470093 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors FBXW4 HGNC ENSG00000107829 tier1 11 0 0.00 9 9 50.00 FCGBP 0 genome.wustl.edu 37 19 40392611 40392611 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 40392611 40392611 C T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known silent c.7893 p.P2631 0.004 NULL 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 - - 98 0 0.00 68 28 29.17 FERMT2 0 genome.wustl.edu 37 14 53327604 53327604 + RNA SNP T T G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 53327604 53327604 T G SNP FERMT2 ENST00000557255 human ensembl 74_37 -1 known rna NULL NULL 0.519 - - - no_errors FERMT2 HGNC ENSG00000073712 tier1 - - 15 0 0.00 34 7 17.07 FETUB 0 genome.wustl.edu 37 3 186362544 186362544 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 186362544 186362544 A 0 DEL FETUB ENST00000265029 human ensembl 74_37 +1 known frame_shift_del c.429 p.K146fs 0.854 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors FETUB HGNC ENSG00000090512 17 0 0.00 48 9 15.79 FEZ1 0 genome.wustl.edu 37 11 125330507 125330509 + In_Frame_Del DEL TCT TCT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 125330507 125330509 TCT - DEL FEZ1 ENST00000278919 human ensembl 74_37 -1 known in_frame_del c.554_552 p.E186in_frame_del 1.000:1.000:0.991 pfam_FEZ pfam_FEZ - no_errors FEZ1 HGNC ENSG00000149557 tier1 50 0 0.00 23 26 53.06 FGF23 0 genome.wustl.edu 37 12 4479741 4479741 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 4479741 4479741 C T SNP FGF23 ENST00000237837 human ensembl 74_37 -1 known missense c.524 p.R175Q 0.898 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF23 HGNC ENSG00000118972 tier1 rs28937881 - 20 0 0.00 46 25 35.21 FLJ33360 0 genome.wustl.edu 37 5 6312341 6312341 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 6312341 6312341 T 0 DEL FLJ33360 ENST00000507444 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2324F15.2 Clone_based_vega_gene ENSG00000250490 35 0 0.00 106 9 7.83 FLNC 0 genome.wustl.edu 37 7 128498203 128498203 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 128498203 128498203 G A SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.7922 p.R2641Q 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 tier1 - - 51 0 0.00 76 43 35.83 FLOT2 0 genome.wustl.edu 37 17 27211323 27211323 + Nonsense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 27211323 27211323 C A SNP FLOT2 ENST00000394908 human ensembl 74_37 -1 known nonsense c.142 p.E48* 1.000 pfam_Band_7 pfam_Band_7,smart_Band_7 - no_errors FLOT2 HGNC ENSG00000132589 14 0 0.00 35 3 7.89 FLRT2 0 genome.wustl.edu 37 14 86092478 86092478 + RNA SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 86092478 86092478 C A SNP FLRT2 ENST00000553650 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors FLRT2 HGNC ENSG00000185070 tier1 - - 32 0 0.00 45 9 16.36 FLT3 0 genome.wustl.edu 37 13 28636205 28636205 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 13 28636205 28636205 A G SNP FLT3 ENST00000380982 human ensembl 74_37 -1 known missense c.167 p.V56A 0.014 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FLT3 HGNC ENSG00000122025 13 0 0.00 13 3 18.75 FLYWCH2 0 genome.wustl.edu 37 16 2949270 2949270 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 2949270 2949270 T - DEL FLYWCH2 ENST00000572786 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors FLYWCH2 HGNC ENSG00000162076 tier1 16 0 0.00 24 4 14.29 FMOD 0 genome.wustl.edu 37 1 203316470 203316470 + Frame_Shift_Del DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 203316470 203316470 G - DEL FMOD ENST00000354955 human ensembl 74_37 -1 known frame_shift_del c.929 p.P310fs 0.400 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors FMOD HGNC ENSG00000122176 tier1 30 0 0.00 24 7 22.58 FNDC3B 0 genome.wustl.edu 37 3 172096210 172096210 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 172096210 172096210 C - DEL FNDC3B ENST00000336824 human ensembl 74_37 +1 known frame_shift_del c.3159 p.T1056fs 0.958 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3B HGNC ENSG00000075420 tier1 44 0 0.00 59 26 30.59 FNDC3B 0 genome.wustl.edu 37 3 172098807 172098807 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 172098807 172098807 C T SNP FNDC3B ENST00000336824 human ensembl 74_37 +1 known missense c.3227 p.T1076M 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3B HGNC ENSG00000075420 tier1 - - 36 0 0.00 89 9 9.18 FNDC8 0 genome.wustl.edu 37 17 33457310 33457310 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 33457310 33457310 C A SNP FNDC8 ENST00000158009 human ensembl 74_37 +1 known missense c.832 p.L278M 0.994 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC8 HGNC ENSG00000073598 tier1 - - 40 0 0.00 26 5 16.13 FOLR1 0 genome.wustl.edu 37 11 71906681 71906681 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 71906681 71906681 G T SNP FOLR1 ENST00000312293 human ensembl 74_37 +1 known missense c.383 p.R128L 1.000 pfam_Folate_rcpt-like pfam_Folate_rcpt-like - no_errors FOLR1 HGNC ENSG00000110195 tier1 - - 80 0 0.00 69 52 42.98 FOXB2 0 genome.wustl.edu 37 9 79634851 79634851 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 79634851 79634851 G T SNP FOXB2 ENST00000376708 human ensembl 74_37 +1 known missense c.281 p.G94V 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,prints_Antifreeze_1 - no_errors FOXB2 HGNC ENSG00000204612 tier1 - - 20 0 0.00 14 25 64.10 FOXM1 0 genome.wustl.edu 37 12 2968282 2968282 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 2968282 2968282 G A SNP FOXM1 ENST00000342628 human ensembl 74_37 -1 known missense c.1928 p.T643M 0.002 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXM1 HGNC ENSG00000111206 tier1 rs199632659 - 32 0 0.00 28 19 40.43 FOXP3 0 genome.wustl.edu 37 X 49108166 49108166 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 X 49108166 49108166 G A SNP FOXP3 ENST00000376207 human ensembl 74_37 -1 known missense c.1105 p.R369C 0.890 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP3 HGNC ENSG00000049768 tier1 - - 22 0 0.00 7 27 79.41 FPGS 0 genome.wustl.edu 37 9 130567066 130567067 + RNA INS - - C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 130567066 130567067 - C INS FPGS ENST00000469310 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.002 - - - no_errors FPGS HGNC ENSG00000136877 tier1 15 0 0.00 15 3 16.67 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74930383 74930383 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 74930383 74930383 A G SNP FPGT-TNNI3K ENST00000370899 human ensembl 74_37 +1 novel missense c.2489 p.N830S 0.084 NULL pfam_Ankyrin_rpt,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,prints_Ankyrin_rpt - no_errors FPGT-TNNI3K HGNC ENSG00000259030 tier1 - - 110 0 0.00 72 69 48.94 FRMD4A 0 genome.wustl.edu 37 10 13735686 13735688 + RNA DEL TTT TTT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 13735686 13735688 TTT - DEL FRMD4A ENST00000492155 human ensembl 74_37 -1 known rna NULL NULL 0.024:0.026:0.028 - - - no_errors FRMD4A HGNC ENSG00000151474 tier1 35 0 0.00 23 9 28.12 FRY 0 genome.wustl.edu 37 13 32709319 32709319 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 13 32709319 32709319 T C SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.1076 p.L359S 1.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 tier1 - - 37 0 0.00 16 18 52.94 FSIP2 0 genome.wustl.edu 37 2 186671157 186671157 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 186671157 186671157 C - DEL FSIP2 ENST00000343098 human ensembl 74_37 +1 known frame_shift_del c.17391 p.P5799fs 0.000 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 tier1 43 0 0.00 30 21 41.18 FZD6 0 genome.wustl.edu 37 8 104343649 104343649 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 104343649 104343649 G A SNP FZD6 ENST00000358755 human ensembl 74_37 +1 known missense c.2033 p.S678N 0.047 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD6 HGNC ENSG00000164930 tier1 - - 65 0 0.00 134 15 10.07 G2E3 0 genome.wustl.edu 37 14 31074772 31074772 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 31074772 31074772 A - DEL G2E3 ENST00000206595 human ensembl 74_37 +1 known frame_shift_del c.1072 p.T361fs 0.994 superfamily_HECT pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT - no_errors G2E3 HGNC ENSG00000092140 tier1 19 0 0.00 22 12 35.29 G2E3 0 genome.wustl.edu 37 14 31074770 31074770 + Missense_Mutation SNP T T A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 31074770 31074770 T A SNP G2E3 ENST00000206595 human ensembl 74_37 +1 known missense c.1070 p.I357N 1.000 superfamily_HECT pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT - no_errors G2E3 HGNC ENSG00000092140 17 0 0.00 30 4 11.76 G2E3 0 genome.wustl.edu 37 14 31074772 31074772 + Nonsense_Mutation SNP A A T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 31074772 31074772 A T SNP G2E3 ENST00000206595 human ensembl 74_37 +1 known nonsense c.1072 p.K358* 0.994 superfamily_HECT pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT - no_errors G2E3 HGNC ENSG00000092140 19 0 0.00 18 4 11.76 G6PC2 0 genome.wustl.edu 37 2 169764753 169764753 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 169764753 169764753 T - DEL G6PC2 ENST00000461586 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors G6PC2 HGNC ENSG00000152254 tier1 11 0 0.00 10 4 28.57 GAA 0 genome.wustl.edu 37 17 78085835 78085835 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 78085835 78085835 T C SNP GAA ENST00000302262 human ensembl 74_37 +1 known missense c.1690 p.F564L 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF 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 - - 26 0 0.00 37 15 28.85 GADD45GIP1 0 genome.wustl.edu 37 19 13065136 13065138 + In_Frame_Del DEL CTT CTT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 13065136 13065138 CTT - DEL GADD45GIP1 ENST00000316939 human ensembl 74_37 -1 known in_frame_del c.555_553 p.K185in_frame_del 1.000:1.000:1.000 pfam_Damage-induce-interacting_prot pfam_Damage-induce-interacting_prot - no_errors GADD45GIP1 HGNC ENSG00000179271 tier1 55 0 0.00 78 39 33.33 GALNTL6 0 genome.wustl.edu 37 4 173150833 173150833 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 173150833 173150833 G A SNP GALNTL6 ENST00000506823 human ensembl 74_37 +1 known silent c.165 p.G55 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL6 HGNC ENSG00000174473 tier1 - - 69 0 0.00 52 29 35.80 GAN 0 genome.wustl.edu 37 16 81410849 81410849 + Silent SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 81410849 81410849 T C SNP GAN ENST00000568107 human ensembl 74_37 +1 known silent c.1528 p.L510 0.233 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors GAN HGNC ENSG00000261609 tier1 - - 124 0 0.00 129 88 40.55 GCSHP3 0 genome.wustl.edu 37 2 206980715 206980715 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 206980715 206980715 T - DEL GCSHP3 ENST00000453039 human ensembl 74_37 +1 known rna NULL NULL 0.033 - - - no_errors AC007383.4 Clone_based_vega_gene ENSG00000231955 tier1 54 0 0.00 66 11 14.29 GGA3 0 genome.wustl.edu 37 17 73234468 73234470 + In_Frame_Del DEL CTC CTC - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 73234468 73234470 CTC - DEL GGA3 ENST00000245541 human ensembl 74_37 -1 known in_frame_del c.2064_2062 p.E688in_frame_del 1.000:1.000:1.000 pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA3 HGNC ENSG00000125447 tier1 25 0 0.00 25 18 41.86 GGT7 0 genome.wustl.edu 37 20 33451230 33451230 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 33451230 33451230 C T SNP GGT7 ENST00000336431 human ensembl 74_37 -1 novel silent c.291 p.A97 0.000 NULL pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT7 HGNC ENSG00000131067 tier1 - - 30 0 0.00 33 43 55.84 GLG1 0 genome.wustl.edu 37 16 74526855 74526855 + Missense_Mutation SNP C C G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 74526855 74526855 C G SNP GLG1 ENST00000205061 human ensembl 74_37 -1 known missense c.1234 p.G412R 1.000 pfam_Cys-rich_GLG1_repeat pfam_Cys-rich_GLG1_repeat - no_errors GLG1 HGNC ENSG00000090863 tier1 - - 30 0 0.00 19 16 45.71 GLI3 0 genome.wustl.edu 37 7 42085011 42085011 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 42085011 42085011 G A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known silent c.798 p.I266 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 tier1 - - 53 0 0.00 67 37 35.24 GLUD1P2 0 genome.wustl.edu 37 10 48980252 48980252 + RNA SNP C C G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 48980252 48980252 C G SNP GLUD1P2 ENST00000594520 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors GLUD1P2 HGNC ENSG00000227781 tier1 - - 14 0 0.00 27 11 28.95 GMEB1 0 genome.wustl.edu 37 1 29041386 29041387 + RNA DEL AA AA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 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 20 0 0.00 6 5 45.45 GOLGA2 0 genome.wustl.edu 37 9 131019390 131019390 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 131019390 131019390 A - DEL GOLGA2 ENST00000421699 human ensembl 74_37 -1 known frame_shift_del c.2965 p.Y989fs 1.000 NULL superfamily_CofA_tubulin-bd - no_errors GOLGA2 HGNC ENSG00000167110 tier1 30 0 0.00 66 13 16.46 GOLGA2 0 genome.wustl.edu 37 9 131020798 131020798 + Missense_Mutation SNP T T G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 131020798 131020798 T G SNP GOLGA2 ENST00000421699 human ensembl 74_37 -1 known missense c.2144 p.E715A 0.004 NULL superfamily_CofA_tubulin-bd - no_errors GOLGA2 HGNC ENSG00000167110 11 0 0.00 33 6 15.38 GOLGA2P5 0 genome.wustl.edu 37 12 100562921 100562921 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 100562921 100562921 T - DEL GOLGA2P5 ENST00000421840 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GOLGA2B Clone_based_vega_gene ENSG00000238105 tier1 25 0 0.00 14 8 36.36 GOLGA8DP 0 genome.wustl.edu 37 15 22709152 22709152 + RNA SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 15 22709152 22709152 G T SNP GOLGA8DP ENST00000314246 human ensembl 74_37 -1 known rna NULL NULL 0.154 - - - no_errors GOLGA8DP HGNC ENSG00000185182 66 0 0.00 121 10 7.63 GOLPH3 0 genome.wustl.edu 37 5 32143921 32143922 + Frame_Shift_Ins INS - - A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 32143921 32143922 - A INS GOLPH3 ENST00000265070 human ensembl 74_37 -1 known frame_shift_ins c.291_290 p.L97fs 1.000:1.000 pfam_GPP34 pfam_GPP34 - no_errors GOLPH3 HGNC ENSG00000113384 tier1 53 0 0.00 95 21 18.10 GON4L 0 genome.wustl.edu 37 1 155734981 155734981 + Frame_Shift_Del DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 155734981 155734981 G - DEL GON4L ENST00000368331 human ensembl 74_37 -1 known frame_shift_del c.4283 p.P1428fs 0.079 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 tier1 53 0 0.00 49 12 19.67 GPAA1 0 genome.wustl.edu 37 8 145138709 145138710 + Frame_Shift_Del DEL CT CT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 145138709 145138710 CT - DEL GPAA1 ENST00000355091 human ensembl 74_37 +1 known frame_shift_del c.459_460 p.S154fs 0.052:0.022 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 - no_errors GPAA1 HGNC ENSG00000197858 tier1 29 0 0.00 99 36 26.67 GPATCH4 0 genome.wustl.edu 37 1 156565387 156565389 + In_Frame_Del DEL TTC TTC - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 156565387 156565389 TTC - DEL GPATCH4 ENST00000438976 human ensembl 74_37 -1 known in_frame_del c.746_744 p.K249in_frame_del 0.959:0.981:0.986 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH4 HGNC ENSG00000160818 tier1 94 0 0.00 102 12 10.53 GPC2 0 genome.wustl.edu 37 7 99767927 99767927 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 99767927 99767927 C - DEL GPC2 ENST00000292377 human ensembl 74_37 -1 known frame_shift_del c.1666 p.A556fs 0.006 NULL pfam_Glypican - no_errors GPC2 HGNC ENSG00000213420 tier1 80 0 0.00 87 25 22.32 GPD2 0 genome.wustl.edu 37 2 157407142 157407142 + Silent SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 157407142 157407142 T C SNP GPD2 ENST00000310454 human ensembl 74_37 +1 known silent c.855 p.C285 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_G3P_DH_FAD-dep - no_errors GPD2 HGNC ENSG00000115159 tier1 - - 33 0 0.00 22 18 45.00 GPER1 0 genome.wustl.edu 37 7 1131884 1131884 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 1131884 1131884 G A SNP GPER1 ENST00000297469 human ensembl 74_37 +1 known missense c.520 p.A174T 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 - no_errors GPER1 HGNC ENSG00000164850 tier1 - - 34 0 0.00 46 21 30.43 GPN1 0 genome.wustl.edu 37 2 27858031 27858031 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 27858031 27858031 A G SNP GPN1 ENST00000264718 human ensembl 74_37 +1 known missense c.496 p.I166V 1.000 pfam_Uncharacterised_ATP-bd,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Uncharacterised_ATP-bd,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors GPN1 HGNC ENSG00000198522 tier1 - - 110 0 0.00 113 86 43.22 GPR113 0 genome.wustl.edu 37 2 26535919 26535919 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 26535919 26535919 C T SNP GPR113 ENST00000333478 human ensembl 74_37 -1 known silent c.948 p.A316 0.001 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR113 HGNC ENSG00000173567 tier1 - - 39 0 0.00 50 26 34.21 GPR125 0 genome.wustl.edu 37 4 22414846 22414846 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 22414846 22414846 T C SNP GPR125 ENST00000334304 human ensembl 74_37 -1 known missense c.2191 p.T731A 0.940 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR125 HGNC ENSG00000152990 tier1 - - 63 0 0.00 71 13 15.48 GPR141 0 genome.wustl.edu 37 7 37780310 37780310 + Missense_Mutation SNP C C G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 37780310 37780310 C G SNP GPR141 ENST00000334425 human ensembl 74_37 +1 known missense c.315 p.F105L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR141 HGNC ENSG00000187037 tier1 - - 37 0 0.00 42 26 38.24 GPR142 0 genome.wustl.edu 37 17 72363813 72363813 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 72363813 72363813 A G SNP GPR142 ENST00000335666 human ensembl 74_37 +1 known missense c.169 p.R57G 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR142 HGNC ENSG00000257008 tier1 - - 33 0 0.00 20 31 60.78 GPR153 0 genome.wustl.edu 37 1 6311533 6311533 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 6311533 6311533 C T SNP GPR153 ENST00000377893 human ensembl 74_37 -1 known missense c.844 p.V282M 0.930 pfam_GPCR_Rhodpsn,prints_GCR_153/162 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR153,prints_GCR_153/162 - no_errors GPR153 HGNC ENSG00000158292 tier1 - - 16 0 0.00 18 13 41.94 GPR32 0 genome.wustl.edu 37 19 51274615 51274615 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 51274615 51274615 G A SNP GPR32 ENST00000270590 human ensembl 74_37 +1 known missense c.758 p.R253Q 0.887 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors GPR32 HGNC ENSG00000142511 tier1 - - 65 0 0.00 25 49 66.22 GPR37 0 genome.wustl.edu 37 7 124386623 124386623 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 124386623 124386623 G A SNP GPR37 ENST00000303921 human ensembl 74_37 -1 known missense c.1798 p.R600C 0.989 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37 HGNC ENSG00000170775 tier1 rs200937236 - 29 0 0.00 19 17 45.95 GPRIN3 0 genome.wustl.edu 37 4 90169281 90169281 + Nonsense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 90169281 90169281 C A SNP GPRIN3 ENST00000333209 human ensembl 74_37 -1 known nonsense c.1981 p.G661* 0.981 NULL NULL - no_errors GPRIN3 HGNC ENSG00000185477 tier1 - - 53 0 0.00 23 21 47.73 GPT 0 genome.wustl.edu 37 8 145732306 145732306 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 145732306 145732306 C - DEL GPT ENST00000394955 human ensembl 74_37 +1 known frame_shift_del c.1414 p.L474fs 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors GPT HGNC ENSG00000167701 tier1 35 0 0.00 97 26 21.14 GRAMD4 0 genome.wustl.edu 37 22 47062721 47062721 + Splice_Site DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 22 47062721 47062721 G - DEL GRAMD4 ENST00000361034 human ensembl 74_37 +1 known splice_site_del c.810-1 e9-1 1.000 - - - no_errors GRAMD4 HGNC ENSG00000075240 tier1 32 0 0.00 49 15 23.44 GRB10 0 genome.wustl.edu 37 7 50737427 50737427 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 50737427 50737427 C T SNP GRB10 ENST00000398812 human ensembl 74_37 -1 known missense c.496 p.A166T 0.000 smart_Ras-assoc,pfscan_Ras-assoc 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 GRB10 HGNC ENSG00000106070 tier1 - - 48 0 0.00 55 17 23.61 GRB14 0 genome.wustl.edu 37 2 165365288 165365288 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 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 42 0 0.00 33 9 21.43 GRIN1 0 genome.wustl.edu 37 9 140059553 140059553 + RNA SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 140059553 140059553 C T SNP GRIN1 ENST00000471122 human ensembl 74_37 +1 known rna NULL NULL 0.986 - - - no_errors GRIN1 HGNC ENSG00000176884 tier1 - - 32 0 0.00 31 26 45.61 GRIP1 0 genome.wustl.edu 37 12 66990679 66990679 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 66990679 66990679 G A SNP GRIP1 ENST00000359742 human ensembl 74_37 -1 known silent c.84 p.S28 1.000 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 tier1 - - 35 0 0.00 21 14 40.00 GSN 0 genome.wustl.edu 37 9 124074813 124074813 + RNA SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 124074813 124074813 A G SNP GSN ENST00000485767 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GSN HGNC ENSG00000148180 tier1 - - 11 0 0.00 33 10 23.26 GSR 0 genome.wustl.edu 37 8 30546820 30546820 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 30546820 30546820 T - DEL GSR ENST00000221130 human ensembl 74_37 -1 known frame_shift_del c.899 p.K300fs 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,tigrfam_Glutathione_Rdtase_euk/bac pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Glutathione_Rdtase_euk/bac - no_errors GSR HGNC ENSG00000104687 tier1 31 0 0.00 8 16 66.67 GTF3C1 0 genome.wustl.edu 37 16 27475971 27475972 + Frame_Shift_Ins INS - - G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 27475971 27475972 - G INS GTF3C1 ENST00000356183 human ensembl 74_37 -1 known frame_shift_ins c.5542_5541 p.E1847fs 0.012:0.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 tier1 33 0 0.00 53 15 22.06 GTF3C1 0 genome.wustl.edu 37 16 27475971 27475972 + Frame_Shift_Ins INS - - GG TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 27475971 27475972 - GG INS GTF3C1 ENST00000356183 human ensembl 74_37 -1 known frame_shift_ins c.5542_5541 p.E1847fs 0.012:0.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 tier1 33 0 0.00 57 11 16.18 GTF3C1 0 genome.wustl.edu 37 16 27506096 27506096 + Missense_Mutation SNP T T A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 27506096 27506096 T A SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known missense c.2766 p.Q922H 1.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 tier1 - - 26 0 0.00 25 15 37.50 GTF3C3 0 genome.wustl.edu 37 2 197653994 197653994 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 197653994 197653994 C T SNP GTF3C3 ENST00000263956 human ensembl 74_37 -1 known missense c.827 p.R276H 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GTF3C3 HGNC ENSG00000119041 tier1 - - 45 0 0.00 65 5 7.14 GTPBP2 0 genome.wustl.edu 37 6 43596716 43596717 + Frame_Shift_Ins INS - - G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 43596716 43596717 - G INS GTPBP2 ENST00000307126 human ensembl 74_37 -1 known frame_shift_ins c.184_183 p.E61fs 1.000:0.961 NULL pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel - no_errors GTPBP2 HGNC ENSG00000172432 tier1 50 0 0.00 53 17 24.29 GUF1 0 genome.wustl.edu 37 4 44690095 44690095 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 44690095 44690095 T C SNP GUF1 ENST00000281543 human ensembl 74_37 +1 known missense c.1010 p.L337S 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel,tigrfam_EF-4 pfam_EF_GTP-bd_dom,pfam_LepA_GTP-bd_C,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_Small_GTPase,superfamily_P-loop_NTPase,superfamily_EFG_III-V,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_EF-4,tigrfam_Small_GTP-bd_dom - no_errors GUF1 HGNC ENSG00000151806 tier1 - - 59 0 0.00 73 13 15.12 GUK1 0 genome.wustl.edu 37 1 228333720 228333720 + RNA SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 228333720 228333720 C T SNP GUK1 ENST00000460224 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors GUK1 HGNC ENSG00000143774 tier1 - - 45 0 0.00 28 41 58.57 GVINP1 0 genome.wustl.edu 37 11 6741491 6741491 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 6741491 6741491 T - DEL GVINP1 ENST00000526769 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GVINP1 HGNC ENSG00000254838 tier1 15 0 0.00 20 4 16.67 GYS2 0 genome.wustl.edu 37 12 21715887 21715887 + Missense_Mutation SNP G G C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 21715887 21715887 G C SNP GYS2 ENST00000261195 human ensembl 74_37 -1 known missense c.1027 p.L343V 0.999 pfam_Glycogen_synth pfam_Glycogen_synth,pfam_Glyco_trans_1 - no_errors GYS2 HGNC ENSG00000111713 tier1 - - 70 0 0.00 48 43 47.25 GZF1 0 genome.wustl.edu 37 20 23350283 23350283 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 23350283 23350283 C T SNP GZF1 ENST00000338121 human ensembl 74_37 +1 known missense c.1690 p.R564C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors GZF1 HGNC ENSG00000125812 tier1 - - 16 0 0.00 29 16 35.56 H2AFY 0 genome.wustl.edu 37 5 134705060 134705060 + RNA SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 134705060 134705060 C A SNP H2AFY ENST00000506532 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors H2AFY HGNC ENSG00000113648 tier1 - - 37 0 0.00 43 22 33.85 HACE1 0 genome.wustl.edu 37 6 105192413 105192413 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 105192413 105192413 A G SNP HACE1 ENST00000262903 human ensembl 74_37 -1 known missense c.2416 p.Y806H 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT,prints_Ankyrin_rpt - no_errors HACE1 HGNC ENSG00000085382 tier1 - - 37 0 0.00 34 16 32.00 HCCS 0 genome.wustl.edu 37 X 11135400 11135400 + Missense_Mutation SNP A A T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 X 11135400 11135400 A T SNP HCCS ENST00000321143 human ensembl 74_37 +1 known missense c.266 p.N89I 1.000 pfam_Cyt_C/C1_haem_lyase pfam_Cyt_C/C1_haem_lyase - no_errors HCCS HGNC ENSG00000004961 tier1 - - 25 0 0.00 7 17 70.83 HDAC4 0 genome.wustl.edu 37 2 240002800 240002800 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 240002800 240002800 G A SNP HDAC4 ENST00000345617 human ensembl 74_37 -1 known missense c.2726 p.A909V 0.955 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 - - 34 0 0.00 49 28 36.36 HDAC9 0 genome.wustl.edu 37 7 18674336 18674336 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 18674336 18674336 T C SNP HDAC9 ENST00000441542 human ensembl 74_37 +1 known missense c.883 p.S295P 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC9 HGNC ENSG00000048052 tier1 - - 82 0 0.00 112 23 17.04 HECTD4 0 genome.wustl.edu 37 12 112630932 112630932 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 112630932 112630932 C T SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.8503 p.V2835M 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 tier1 - - 49 0 0.00 39 9 18.75 HEG1 0 genome.wustl.edu 37 3 124733606 124733606 + RNA SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 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 - - 21 0 0.00 30 15 33.33 HELZ2 0 genome.wustl.edu 37 20 62193250 62193251 + Frame_Shift_Ins INS - - G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 62193250 62193251 - G INS HELZ2 ENST00000467148 human ensembl 74_37 -1 known frame_shift_ins c.6617_6616 p.R2206fs 0.000:0.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 tier1 14 0 0.00 31 7 18.42 HELZ2 0 genome.wustl.edu 37 20 62195615 62195615 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 62195615 62195615 C T SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known silent c.4560 p.A1520 0.005 NULL superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 tier1 - - 22 0 0.00 48 28 36.84 HEPHL1 0 genome.wustl.edu 37 11 93796775 93796775 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 93796775 93796775 G A SNP HEPHL1 ENST00000315765 human ensembl 74_37 +1 known missense c.517 p.A173T 0.999 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPHL1 HGNC ENSG00000181333 tier1 - - 38 0 0.00 57 27 31.76 HERC4 0 genome.wustl.edu 37 10 69716603 69716603 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 69716603 69716603 A - DEL HERC4 ENST00000480158 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HERC4 HGNC ENSG00000148634 tier1 14 0 0.00 10 12 54.55 HEXDC 0 genome.wustl.edu 37 17 80397532 80397532 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 80397532 80397532 G A SNP HEXDC ENST00000337014 human ensembl 74_37 +1 known missense c.925 p.E309K 1.000 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF - no_errors HEXDC HGNC ENSG00000169660 tier1 - - 98 0 0.00 95 96 50.26 HEXDC 0 genome.wustl.edu 37 17 80400297 80400298 + Frame_Shift_Ins INS - - G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 80400297 80400298 - G INS HEXDC ENST00000337014 human ensembl 74_37 +1 known frame_shift_ins c.1587_1588 p.A531fs 0.001:0.000 NULL pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF - no_errors HEXDC HGNC ENSG00000169660 tier1 18 0 0.00 23 22 48.89 HEY2 0 genome.wustl.edu 37 6 126080617 126080617 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 126080617 126080617 C T SNP HEY2 ENST00000368364 human ensembl 74_37 +1 known missense c.683 p.T228M 1.000 NULL pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom,prints_Antifreeze_1 - no_errors HEY2 HGNC ENSG00000135547 tier1 - - 17 0 0.00 16 16 50.00 HHIP 0 genome.wustl.edu 37 4 145580090 145580090 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 145580090 145580090 G T SNP HHIP ENST00000296575 human ensembl 74_37 +1 known missense c.621 p.E207D 1.000 pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HHIP HGNC ENSG00000164161 tier1 - - 39 0 0.00 16 7 30.43 HIAT1 0 genome.wustl.edu 37 1 100547662 100547662 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 100547662 100547662 G T SNP HIAT1 ENST00000370152 human ensembl 74_37 +1 known missense c.1370 p.R457M 0.987 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors HIAT1 HGNC ENSG00000156875 tier1 - - 27 0 0.00 14 9 39.13 HIST1H3I 0 genome.wustl.edu 37 6 27839733 27839733 + Missense_Mutation SNP T T A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 27839733 27839733 T A SNP HIST1H3I ENST00000328488 human ensembl 74_37 -1 known missense c.361 p.M121L 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3I HGNC ENSG00000182572 tier1 - - 43 0 0.00 33 25 43.10 HIST2H2BF 0 genome.wustl.edu 37 1 149783804 149783806 + In_Frame_Del DEL CTT CTT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 149783804 149783806 CTT - DEL HIST2H2BF ENST00000427880 human ensembl 74_37 -1 known in_frame_del c.75_73 p.K25in_frame_del 0.914:1.000:1.000 superfamily_Histone-fold pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST2H2BF HGNC ENSG00000203814 tier1 93 0 0.00 109 26 19.26 HLA-G 0 genome.wustl.edu 37 6 29797635 29797635 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 29797635 29797635 C T SNP HLA-G ENST00000376828 human ensembl 74_37 +1 known missense c.953 p.A318V 0.002 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-G HGNC ENSG00000204632 tier1 - - 97 0 0.00 87 40 31.50 HM13 0 genome.wustl.edu 37 20 30142485 30142485 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 30142485 30142485 A - DEL HM13 ENST00000474466 human ensembl 74_37 +1 known rna NULL NULL 0.172 - - - no_errors HM13 HGNC ENSG00000101294 tier1 11 0 0.00 35 15 30.00 HMGN2P46 0 genome.wustl.edu 37 15 45848231 45848233 + RNA DEL TTT TTT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 15 45848231 45848233 TTT - DEL HMGN2P46 ENST00000313559 human ensembl 74_37 +1 known rna NULL NULL 0.997:0.996:0.997 - - - no_errors HMGN2P46 HGNC ENSG00000179362 tier1 18 0 0.00 14 8 36.36 HMMR 0 genome.wustl.edu 37 5 162917426 162917426 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 162917426 162917426 A - DEL HMMR ENST00000393915 human ensembl 74_37 +1 known frame_shift_del c.1993 p.K667fs 1.000 NULL NULL - no_errors HMMR HGNC ENSG00000072571 tier1 25 0 0.00 19 6 24.00 HNF4G 0 genome.wustl.edu 37 8 76459907 76459907 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 76459907 76459907 A - DEL HNF4G ENST00000396423 human ensembl 74_37 +1 known frame_shift_del c.343 p.E117fs 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 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_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4G HGNC ENSG00000164749 tier1 60 0 0.00 61 29 32.22 HNRNPA1P48 0 genome.wustl.edu 37 16 51679811 51679811 + RNA SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 51679811 51679811 A G SNP HNRNPA1P48 ENST00000562726 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HNRNPA1P48 HGNC ENSG00000224578 tier1 - - 28 0 0.00 21 10 31.25 HNRNPA1P48 0 genome.wustl.edu 37 16 51680669 51680670 + RNA INS - - T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 51680669 51680670 - T INS HNRNPA1P48 ENST00000562726 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors HNRNPA1P48 HGNC ENSG00000224578 tier1 13 0 0.00 23 19 45.24 HNRNPK 0 genome.wustl.edu 37 9 86586596 86586596 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 86586596 86586596 G A SNP HNRNPK ENST00000376263 human ensembl 74_37 -1 known silent c.999 p.Y333 0.647 NULL pfam_KH_dom_type_1,pfam_ROK_N,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HNRNPK HGNC ENSG00000165119 tier1 - - 59 0 0.00 26 29 51.79 HOXA9 0 genome.wustl.edu 37 7 27202966 27202966 + RNA DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 27202966 27202966 C - DEL HOXA9 ENST00000487384 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors HOXA9 HGNC ENSG00000078399 tier1 20 0 0.00 23 9 28.12 HOXB3 0 genome.wustl.edu 37 17 46628044 46628044 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 46628044 46628044 G A SNP HOXB3 ENST00000311626 human ensembl 74_37 -1 known silent c.948 p.G316 0.998 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB3 HGNC ENSG00000120093 tier1 - - 37 0 0.00 49 18 26.87 HPX 0 genome.wustl.edu 37 11 6461701 6461701 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 6461701 6461701 A - DEL HPX ENST00000265983 human ensembl 74_37 -1 known frame_shift_del c.210 p.F70fs 0.998 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 26 0 0.00 16 18 52.94 HRNR 0 genome.wustl.edu 37 1 152187979 152187979 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 152187979 152187979 G A SNP HRNR ENST00000368801 human ensembl 74_37 -1 known silent c.6126 p.H2042 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 - - 107 0 0.00 102 17 14.29 HSD11B1 0 genome.wustl.edu 37 1 209880402 209880402 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 209880402 209880402 T - DEL HSD11B1 ENST00000261465 human ensembl 74_37 +1 known frame_shift_del c.446 p.V149fs 0.998 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors HSD11B1 HGNC ENSG00000117594 tier1 20 0 0.00 14 6 30.00 HSP90B1 0 genome.wustl.edu 37 12 104341424 104341424 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 104341424 104341424 A - DEL HSP90B1 ENST00000299767 human ensembl 74_37 +1 known frame_shift_del c.2396 p.D801fs 0.998 NULL pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N - no_errors HSP90B1 HGNC ENSG00000166598 tier1 50 0 0.00 28 31 52.54 HSPA12A 0 genome.wustl.edu 37 10 118464786 118464786 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 118464786 118464786 C T SNP HSPA12A ENST00000369209 human ensembl 74_37 -1 known missense c.130 p.D44N 1.000 NULL NULL - no_errors HSPA12A HGNC ENSG00000165868 tier1 - - 39 0 0.00 62 32 34.04 HSPA6 0 genome.wustl.edu 37 1 161496162 161496162 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 161496162 161496162 A G SNP HSPA6 ENST00000309758 human ensembl 74_37 +1 known missense c.1714 p.M572V 0.562 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA6 HGNC ENSG00000173110 44 0 0.00 71 5 6.58 HTR1B 0 genome.wustl.edu 37 6 78172236 78172236 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 78172236 78172236 G A SNP HTR1B ENST00000369947 human ensembl 74_37 -1 known silent c.885 p.S295 0.938 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1B_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1B_rcpt,prints_5HT_rcpt,prints_ADR_fam - no_errors HTR1B HGNC ENSG00000135312 tier1 - - 23 0 0.00 23 6 20.69 HTR1E 0 genome.wustl.edu 37 6 87726135 87726135 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 87726135 87726135 C T SNP HTR1E ENST00000305344 human ensembl 74_37 +1 known silent c.1083 p.C361 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR1E HGNC ENSG00000168830 tier1 - - 64 0 0.00 38 26 40.62 HUWE1 0 genome.wustl.edu 37 X 53576405 53576405 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 X 53576405 53576405 C T SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.9550 p.E3184K 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 - - 19 0 0.00 9 12 57.14 HYAL3 0 genome.wustl.edu 37 3 50332292 50332292 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 50332292 50332292 G A SNP HYAL3 ENST00000336307 human ensembl 74_37 -1 known missense c.742 p.P248S 0.944 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL3 HGNC ENSG00000186792 tier1 - - 52 0 0.00 56 32 36.36 IARS 0 genome.wustl.edu 37 9 95002935 95002935 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 95002935 95002935 A - DEL IARS ENST00000375627 human ensembl 74_37 -1 known frame_shift_del c.481 p.W161fs 0.046 NULL NULL - no_errors IARS HGNC ENSG00000196305 tier1 13 0 0.00 15 5 25.00 ICAM5 0 genome.wustl.edu 37 19 10403406 10403406 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 10403406 10403406 G A SNP ICAM5 ENST00000221980 human ensembl 74_37 +1 known silent c.1080 p.A360 0.000 smart_Ig_sub pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM5 HGNC ENSG00000105376 tier1 - - 17 0 0.00 31 22 41.51 IFI44 0 genome.wustl.edu 37 1 79129487 79129487 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 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 41 19 31.67 IFIT5 0 genome.wustl.edu 37 10 91177806 91177806 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 91177806 91177806 T C SNP IFIT5 ENST00000371795 human ensembl 74_37 +1 known missense c.850 p.F284L 1.000 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT5 HGNC ENSG00000152778 tier1 - - 21 0 0.00 23 15 39.47 IFT140 0 genome.wustl.edu 37 16 1634250 1634250 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 1634250 1634250 C T SNP IFT140 ENST00000426508 human ensembl 74_37 -1 known missense c.1327 p.D443N 0.999 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC ENSG00000187535 18 0 0.00 16 3 15.79 IGDCC3 0 genome.wustl.edu 37 15 65628266 65628266 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 15 65628266 65628266 C A SNP IGDCC3 ENST00000327987 human ensembl 74_37 -1 known missense c.438 p.Q146H 0.999 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGDCC3 HGNC ENSG00000174498 tier1 - - 40 0 0.00 23 51 68.92 IGDCC4 0 genome.wustl.edu 37 15 65702608 65702608 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 15 65702608 65702608 G A SNP IGDCC4 ENST00000352385 human ensembl 74_37 -1 novel silent c.471 p.N157 0.011 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGDCC4 HGNC ENSG00000103742 tier1 - - 30 0 0.00 8 29 78.38 IL2RG 0 genome.wustl.edu 37 X 70330527 70330527 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 X 70330527 70330527 G A SNP IL2RG ENST00000374202 human ensembl 74_37 -1 known missense c.281 p.S94L 0.000 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL2RG HGNC ENSG00000147168 tier1 - - 22 0 0.00 8 17 68.00 IL34 0 genome.wustl.edu 37 16 70690943 70690943 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 70690943 70690943 C T SNP IL34 ENST00000288098 human ensembl 74_37 +1 known silent c.321 p.D107 0.103 prints_IL-34 prints_IL-34 - no_errors IL34 HGNC ENSG00000157368 tier1 - - 34 0 0.00 44 22 33.33 IL36G 0 genome.wustl.edu 37 2 113742537 113742537 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 113742537 113742537 G T SNP IL36G ENST00000259205 human ensembl 74_37 +1 known missense c.421 p.A141S 0.124 pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36,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 27 0 0.00 68 4 5.56 INF2 0 genome.wustl.edu 37 14 105180705 105180705 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 105180705 105180705 C T SNP INF2 ENST00000392634 human ensembl 74_37 +1 known missense c.3206 p.P1069L 0.011 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 tier1 - - 34 0 0.00 13 77 84.62 ING4 0 genome.wustl.edu 37 12 6762111 6762111 + Nonsense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 6762111 6762111 C A SNP ING4 ENST00000412586 human ensembl 74_37 -1 known nonsense c.382 p.E128* 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING4 HGNC ENSG00000111653 16 0 0.00 28 2 6.67 INPP5F 0 genome.wustl.edu 37 10 121551401 121551401 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 121551401 121551401 G T SNP INPP5F ENST00000361976 human ensembl 74_37 +1 known missense c.465 p.K155N 1.000 pfam_Syja_N pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 19 0 0.00 36 2 5.26 INTU 0 genome.wustl.edu 37 4 128605591 128605591 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 128605591 128605591 G T SNP INTU ENST00000335251 human ensembl 74_37 +1 known missense c.1209 p.M403I 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors INTU HGNC ENSG00000164066 45 0 0.00 43 4 8.51 IPO5 0 genome.wustl.edu 37 13 98655251 98655251 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 13 98655251 98655251 T C SNP IPO5 ENST00000261574 human ensembl 74_37 +1 known missense c.1511 p.V504A 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N - no_errors IPO5 HGNC ENSG00000065150 tier1 - - 22 0 0.00 27 7 20.59 IQCA1 0 genome.wustl.edu 37 2 237240170 237240170 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 237240170 237240170 C T SNP IQCA1 ENST00000409907 human ensembl 74_37 -1 known silent c.2205 p.A735 0.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCA1 HGNC ENSG00000132321 tier1 - - 33 0 0.00 39 19 32.76 IRF9 0 genome.wustl.edu 37 14 24632612 24632612 + Silent SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 24632612 24632612 A G SNP IRF9 ENST00000396864 human ensembl 74_37 +1 known silent c.390 p.P130 0.004 NULL pfam_Interferon_reg_fact_DNA-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF9 HGNC ENSG00000213928 tier1 - - 75 0 0.00 56 48 45.71 IRS1 0 genome.wustl.edu 37 2 227661663 227661664 + Frame_Shift_Ins INS - - C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 227661663 227661664 - C INS IRS1 ENST00000305123 human ensembl 74_37 -1 known frame_shift_ins c.1792_1791 p.H597fs 1.000:0.995 NULL 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 84 0 0.00 97 42 30.22 ITGA6 0 genome.wustl.edu 37 2 173335732 173335733 + Frame_Shift_Ins INS - - T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 173335732 173335733 - T INS ITGA6 ENST00000264106 human ensembl 74_37 +1 known frame_shift_ins c.674_675 p.D228fs 1.000:1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA6 HGNC ENSG00000091409 tier1 37 0 0.00 55 15 21.43 ITGAM 0 genome.wustl.edu 37 16 31336608 31336608 + Silent SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 31336608 31336608 G T SNP ITGAM ENST00000544665 human ensembl 74_37 +1 known silent c.2391 p.G797 0.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAM HGNC ENSG00000169896 45 0 0.00 57 3 5.00 ITGAV 0 genome.wustl.edu 37 2 187521085 187521085 + Frame_Shift_Del DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 187521085 187521085 G - DEL ITGAV ENST00000261023 human ensembl 74_37 +1 known frame_shift_del c.1676 p.G561fs 0.609 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ENSG00000138448 tier1 20 0 0.00 22 9 29.03 ITIH5 0 genome.wustl.edu 37 10 7601825 7601825 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 7601825 7601825 T - DEL ITIH5 ENST00000397146 human ensembl 74_37 -1 known frame_shift_del c.2019 p.K673fs 0.008 NULL pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 tier1 13 0 0.00 3 3 50.00 ITPKC 0 genome.wustl.edu 37 19 41223790 41223791 + Frame_Shift_Ins INS - - A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 41223790 41223791 - A INS ITPKC ENST00000263370 human ensembl 74_37 +1 known frame_shift_ins c.750_751 p.Q252fs 0.002:0.001 NULL pfam_IPK - no_errors ITPKC HGNC ENSG00000086544 tier1 23 0 0.00 15 10 40.00 JAK1 0 genome.wustl.edu 37 1 65306997 65306997 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 65306997 65306997 T - DEL JAK1 ENST00000342505 human ensembl 74_37 -1 known frame_shift_del c.2580 p.K860fs 0.055 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,superfamily_Kinase-like_dom pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,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,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors JAK1 HGNC ENSG00000162434 tier1 43 0 0.00 42 15 26.32 JAK2 0 genome.wustl.edu 37 9 5044449 5044449 + Silent SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 5044449 5044449 C A SNP JAK2 ENST00000381652 human ensembl 74_37 +1 known silent c.397 p.R133 1.000 smart_Band_41_domain,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,prints_Tyr_kinase_non-rcpt_Jak2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,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_SH2,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK2 HGNC ENSG00000096968 tier1 - - 41 0 0.00 35 14 28.57 JKAMP 0 genome.wustl.edu 37 14 59965486 59965486 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 59965486 59965486 T C SNP JKAMP ENST00000356057 human ensembl 74_37 +1 known missense c.524 p.L175S 0.997 pfam_DUF766 pfam_DUF766 - no_errors JKAMP HGNC ENSG00000050130 tier1 - - 22 0 0.00 26 27 50.94 JMJD8 0 genome.wustl.edu 37 16 732799 732799 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 732799 732799 C T SNP JMJD8 ENST00000293882 human ensembl 74_37 -1 known missense c.1000 p.G334S 0.869 pfscan_JmjC_dom pfam_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD8 HGNC ENSG00000161999 tier1 rs201419838 - 45 0 0.00 19 31 60.78 JPH3 0 genome.wustl.edu 37 16 87677966 87677966 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 87677966 87677966 C T SNP JPH3 ENST00000284262 human ensembl 74_37 +1 known missense c.485 p.T162M 1.000 pirsf_Junctophilin pirsf_Junctophilin,pfam_MORN,smart_MORN - no_errors JPH3 HGNC ENSG00000154118 tier1 - - 61 0 0.00 85 45 34.62 JPH3 0 genome.wustl.edu 37 16 87678537 87678537 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 87678537 87678537 C - DEL JPH3 ENST00000284262 human ensembl 74_37 +1 known frame_shift_del c.1056 p.L354fs 1.000 pirsf_Junctophilin pirsf_Junctophilin,pfam_MORN,smart_MORN - no_errors JPH3 HGNC ENSG00000154118 tier1 30 0 0.00 42 25 37.31 KALRN 0 genome.wustl.edu 37 3 124438073 124438073 + Missense_Mutation SNP G G C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 124438073 124438073 G C SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.8717 p.G2906A 0.752 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_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 - - 25 0 0.00 21 13 38.24 KAT2A 0 genome.wustl.edu 37 17 40270397 40270399 + In_Frame_Del DEL CTC CTC - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 40270397 40270399 CTC - DEL KAT2A ENST00000225916 human ensembl 74_37 -1 known in_frame_del c.1098_1096 p.E366in_frame_del 1.000:1.000:1.000 pirsf_Hist_acetylase_PCAF pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom,prints_Bromodomain - no_errors KAT2A HGNC ENSG00000108773 tier1 29 0 0.00 32 8 20.00 KAT6B 0 genome.wustl.edu 37 10 76780447 76780447 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 76780447 76780447 T C SNP KAT6B ENST00000287239 human ensembl 74_37 +1 known missense c.2737 p.Y913H 1.000 pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 tier1 - - 11 0 0.00 13 28 68.29 KATNAL1 0 genome.wustl.edu 37 13 30829644 30829644 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 13 30829644 30829644 C A SNP KATNAL1 ENST00000380615 human ensembl 74_37 -1 known missense c.432 p.K144N 0.998 NULL pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors KATNAL1 HGNC ENSG00000102781 tier1 - - 65 0 0.00 41 37 47.44 KBTBD2 0 genome.wustl.edu 37 7 32914666 32914666 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 32914666 32914666 C T SNP KBTBD2 ENST00000304056 human ensembl 74_37 -1 known missense c.274 p.G92S 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD2 HGNC ENSG00000170852 tier1 - - 88 0 0.00 76 50 39.68 KCNA6 0 genome.wustl.edu 37 12 4919431 4919431 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 4919431 4919431 G A SNP KCNA6 ENST00000280684 human ensembl 74_37 +1 known missense c.224 p.R75H 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1 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 - - 85 0 0.00 91 84 48.00 KCNC2 0 genome.wustl.edu 37 12 75601161 75601161 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 75601161 75601161 G A SNP KCNC2 ENST00000549446 human ensembl 74_37 -1 known silent c.603 p.P201 0.346 NULL 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_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC2 HGNC ENSG00000166006 tier1 - - 53 0 0.00 57 77 57.46 KCNC3 0 genome.wustl.edu 37 19 50824036 50824036 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 50824036 50824036 G A SNP KCNC3 ENST00000477616 human ensembl 74_37 -1 known missense c.1984 p.R662C 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC3 HGNC ENSG00000131398 tier1 - - 75 0 0.00 31 110 78.01 KCNG3 0 genome.wustl.edu 37 2 42671596 42671596 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 42671596 42671596 C T SNP KCNG3 ENST00000306078 human ensembl 74_37 -1 known silent c.789 p.T263 0.003 pfam_Ion_trans_dom,prints_K_chnl 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_Kv9,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG3 HGNC ENSG00000171126 tier1 - - 16 0 0.00 30 6 16.67 KCNH4 0 genome.wustl.edu 37 17 40315711 40315711 + Missense_Mutation SNP C C G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 40315711 40315711 C G SNP KCNH4 ENST00000264661 human ensembl 74_37 -1 known missense c.2390 p.G797A 0.000 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC ENSG00000089558 tier1 - - 22 0 0.00 16 21 56.76 KCNJ12 0 genome.wustl.edu 37 17 21319498 21319498 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 21319498 21319498 G A SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known missense c.844 p.G282S 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 tier1 - - 91 0 0.00 130 31 19.25 KCNMA1 0 genome.wustl.edu 37 10 78870005 78870005 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 78870005 78870005 C T SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known missense c.1057 p.V353I 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 tier1 - - 60 0 0.00 47 16 25.40 KCNMB4 0 genome.wustl.edu 37 12 70824403 70824403 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 70824403 70824403 G A SNP KCNMB4 ENST00000258111 human ensembl 74_37 +1 known silent c.603 p.A201 0.964 pfam_K_chnl_Ca-activ_BK_bsu pfam_K_chnl_Ca-activ_BK_bsu - no_errors KCNMB4 HGNC ENSG00000135643 tier1 - - 26 0 0.00 39 14 26.42 KCNN1 0 genome.wustl.edu 37 19 18100628 18100628 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 18100628 18100628 G A SNP KCNN1 ENST00000222249 human ensembl 74_37 +1 known missense c.1274 p.R425H 1.000 pfam_CaM-bd_dom,superfamily_CaM-bd_dom pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN1 HGNC ENSG00000105642 tier1 - - 46 0 0.00 41 23 35.94 KCNQ2 0 genome.wustl.edu 37 20 62055548 62055548 + Frame_Shift_Del DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 62055548 62055548 G - DEL KCNQ2 ENST00000354587 human ensembl 74_37 -1 known frame_shift_del c.1199 p.P400fs 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 tier1 12 0 0.00 37 13 26.00 KCNQ4 0 genome.wustl.edu 37 1 41282938 41282938 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 41282938 41282938 T - DEL KCNQ4 ENST00000347132 human ensembl 74_37 +1 known frame_shift_del c.316 p.L107fs 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ4 HGNC ENSG00000117013 tier1 73 0 0.00 44 61 58.10 KCNS2 0 genome.wustl.edu 37 8 99441109 99441109 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 99441109 99441109 G A SNP KCNS2 ENST00000287042 human ensembl 74_37 +1 known missense c.902 p.R301Q 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_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS2 HGNC ENSG00000156486 tier1 - - 28 0 0.00 65 8 10.96 KCNT2 0 genome.wustl.edu 37 1 196392230 196392230 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 196392230 196392230 C T SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.1135 p.E379K 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 tier1 - - 42 0 0.00 22 28 56.00 KCTD13 0 genome.wustl.edu 37 16 29918228 29918228 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 29918228 29918228 G A SNP KCTD13 ENST00000308768 human ensembl 74_37 -1 known missense c.955 p.R319C 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD13 HGNC ENSG00000174943 tier1 - - 25 0 0.00 29 6 17.14 KDELC1 0 genome.wustl.edu 37 13 103443722 103443722 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 13 103443722 103443722 T - DEL KDELC1 ENST00000376004 human ensembl 74_37 -1 known frame_shift_del c.731 p.K244fs 1.000 pfam_LipoPS_modifying,smart_LipoPS_modifying pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like - no_errors KDELC1 HGNC ENSG00000134901 tier1 65 0 0.00 31 35 53.03 KDM2A 0 genome.wustl.edu 37 11 67023823 67023823 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 67023823 67023823 A - DEL KDM2A ENST00000524657 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors KDM2A HGNC ENSG00000173120 tier1 8 0 0.00 9 8 47.06 KEAP1 0 genome.wustl.edu 37 19 10602788 10602788 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 10602788 10602788 C T SNP KEAP1 ENST00000171111 human ensembl 74_37 -1 known missense c.790 p.V264I 0.998 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 KEAP1 HGNC ENSG00000079999 tier1 - - 37 0 0.00 62 35 36.08 KHDC3L 0 genome.wustl.edu 37 6 74073483 74073483 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 74073483 74073483 C T SNP KHDC3L ENST00000370367 human ensembl 74_37 +1 known missense c.554 p.A185V 0.000 NULL NULL - no_errors KHDC3L HGNC ENSG00000203908 tier1 - - 58 0 0.00 48 53 52.48 KHDRBS3 0 genome.wustl.edu 37 8 136659489 136659490 + RNA DEL AA AA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 136659489 136659490 AA - DEL KHDRBS3 ENST00000518728 human ensembl 74_37 +1 putative rna NULL NULL 1.000:1.000 - - - no_errors KHDRBS3 HGNC ENSG00000131773 tier1 18 0 0.00 25 13 34.21 KHNYN 0 genome.wustl.edu 37 14 24902031 24902031 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 24902031 24902031 C T SNP KHNYN ENST00000251343 human ensembl 74_37 +1 known missense c.1453 p.R485C 1.000 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12 - no_errors KHNYN HGNC ENSG00000100441 tier1 rs200900567 - 32 0 0.00 43 48 52.75 KIAA0195 0 genome.wustl.edu 37 17 73487189 73487189 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 73487189 73487189 G A SNP KIAA0195 ENST00000314256 human ensembl 74_37 +1 known silent c.1188 p.T396 0.005 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 tier1 - - 58 0 0.00 55 25 31.25 KIAA0907 0 genome.wustl.edu 37 1 155903598 155903598 + Silent SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 155903598 155903598 G T SNP KIAA0907 ENST00000368321 human ensembl 74_37 -1 known silent c.81 p.L27 1.000 NULL NULL - no_errors KIAA0907 HGNC ENSG00000132680 tier1 - - 24 0 0.00 21 17 44.74 KIAA1109 0 genome.wustl.edu 37 4 123131023 123131023 + Missense_Mutation SNP A A T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 123131023 123131023 A T SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.1982 p.D661V 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 tier1 - - 60 0 0.00 21 13 38.24 KIAA1467 0 genome.wustl.edu 37 12 13232776 13232776 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 13232776 13232776 C T SNP KIAA1467 ENST00000197268 human ensembl 74_37 +1 known missense c.1696 p.P566S 0.006 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors KIAA1467 HGNC ENSG00000084444 tier1 - - 55 0 0.00 53 43 44.79 KIAA1468 0 genome.wustl.edu 37 18 59922664 59922664 + Nonsense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 18 59922664 59922664 C T SNP KIAA1468 ENST00000256858 human ensembl 74_37 +1 known nonsense c.1849 p.R617* 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation - no_errors KIAA1468 HGNC ENSG00000134444 tier1 - - 15 0 0.00 10 11 52.38 KIAA1549L 0 genome.wustl.edu 37 11 33677558 33677558 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 33677558 33677558 G T SNP KIAA1549L ENST00000389726 human ensembl 74_37 +1 known missense c.4888 p.A1630S 1.000 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 tier1 - - 45 0 0.00 56 26 31.71 KIAA1841 0 genome.wustl.edu 37 2 61315639 61315640 + RNA DEL TA TA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 61315639 61315640 TA - DEL KIAA1841 ENST00000482513 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors KIAA1841 HGNC ENSG00000162929 tier1 13 0 0.00 11 6 35.29 KIAA2018 0 genome.wustl.edu 37 3 113377481 113377482 + Frame_Shift_Ins INS - - T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 113377481 113377482 - T INS KIAA2018 ENST00000316407 human ensembl 74_37 -1 known frame_shift_ins c.3048_3047 p.N1016fs 0.174:0.827 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 tier1 25 0 0.00 27 5 15.62 KIAA2018 0 genome.wustl.edu 37 3 113377482 113377482 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 113377482 113377482 T - DEL KIAA2018 ENST00000316407 human ensembl 74_37 -1 known frame_shift_del c.3047 p.N1016fs 0.827 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 tier1 25 0 0.00 24 7 22.58 KIAA2018 0 genome.wustl.edu 37 3 113376116 113376116 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 113376116 113376116 C T SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known silent c.4413 p.Q1471 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 29 0 0.00 25 7 21.88 KIAA2018 0 genome.wustl.edu 37 3 113376122 113376122 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 113376122 113376122 C T SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known silent c.4407 p.Q1469 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 38 0 0.00 39 5 11.36 KIF20B 0 genome.wustl.edu 37 10 91518600 91518600 + Missense_Mutation SNP T T G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 91518600 91518600 T G SNP KIF20B ENST00000416354 human ensembl 74_37 +1 known missense c.4731 p.I1577M 0.320 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 - - 28 0 0.00 14 12 46.15 KIF5C 0 genome.wustl.edu 37 2 149854978 149854978 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 149854978 149854978 G A SNP KIF5C ENST00000435030 human ensembl 74_37 +1 known missense c.2165 p.R722Q 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF5C HGNC ENSG00000168280 tier1 - - 31 0 0.00 40 30 42.86 KIR2DL3 0 genome.wustl.edu 37 19 55263121 55263121 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 55263121 55263121 G A SNP KIR2DL3 ENST00000342376 human ensembl 74_37 +1 known missense c.736 p.V246I 0.005 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL3 HGNC ENSG00000243772 182 0 0.00 137 23 14.29 KIR2DL3 0 genome.wustl.edu 37 19 55263158 55263160 + In_Frame_Del DEL TCC TCC - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 55263158 55263160 TCC 0 DEL KIR2DL3 ENST00000342376 human ensembl 74_37 +1 known in_frame_del c.773_775 p.L261in_frame_del 0.000:0.001:0.002 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL3 HGNC ENSG00000243772 193 0 0.00 153 12 7.27 KIR3DL2 0 genome.wustl.edu 37 19 55361941 55361941 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 55361941 55361941 C T SNP KIR3DL2 ENST00000326321 human ensembl 74_37 +1 known missense c.11 p.T4M 0.001 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DL2 HGNC ENSG00000240403 tier1 - - 38 0 0.00 22 67 75.28 KLF15 0 genome.wustl.edu 37 3 126071107 126071107 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 126071107 126071107 A G SNP KLF15 ENST00000296233 human ensembl 74_37 -1 known missense c.659 p.L220S 0.995 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF15 HGNC ENSG00000163884 tier1 - - 19 0 0.00 28 22 44.00 KLHDC8B 0 genome.wustl.edu 37 3 49210244 49210244 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 49210244 49210244 C - DEL KLHDC8B ENST00000332780 human ensembl 74_37 +1 known frame_shift_del c.42 p.M17fs 1.000 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC8B HGNC ENSG00000185909 tier1 39 0 0.00 45 18 28.57 KLHL20 0 genome.wustl.edu 37 1 173703092 173703092 + Silent SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 173703092 173703092 C A SNP KLHL20 ENST00000209884 human ensembl 74_37 +1 known silent c.264 p.A88 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL20 HGNC ENSG00000076321 tier1 - - 91 0 0.00 48 51 51.52 KLHL25 0 genome.wustl.edu 37 15 86312008 86312008 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 15 86312008 86312008 G A SNP KLHL25 ENST00000337975 human ensembl 74_37 -1 known missense c.1034 p.T345M 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL25 HGNC ENSG00000183655 tier1 - - 50 0 0.00 15 54 78.26 KLHL30 0 genome.wustl.edu 37 2 239049639 239049639 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 239049639 239049639 G A SNP KLHL30 ENST00000409223 human ensembl 74_37 +1 known missense c.244 p.A82T 0.076 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL30 HGNC ENSG00000168427 tier1 - - 39 0 0.00 28 27 48.21 KLHL36 0 genome.wustl.edu 37 16 84695293 84695293 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 84695293 84695293 C T SNP KLHL36 ENST00000564996 human ensembl 74_37 +1 known missense c.1405 p.R469W 0.977 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL36 HGNC ENSG00000135686 tier1 - - 28 0 0.00 26 25 49.02 KLKP1 0 genome.wustl.edu 37 19 51391542 51391543 + RNA INS - - T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 51391542 51391543 - T INS KLKP1 ENST00000600104 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.002 - - - no_errors KLKP1 HGNC ENSG00000197588 tier1 71 0 0.00 33 42 56.00 KMT2A 0 genome.wustl.edu 37 11 118343390 118343390 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 118343390 118343390 A G SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.1516 p.T506A 0.903 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 tier1 - - 12 0 0.00 19 5 20.83 KMT2D 0 genome.wustl.edu 37 12 49420213 49420213 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 49420213 49420213 C T SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.15536 p.R5179H 0.998 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 - - 18 0 0.00 22 10 31.25 KMT2E 0 genome.wustl.edu 37 7 104731836 104731836 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 104731836 104731836 G T SNP KMT2E ENST00000476671 human ensembl 74_37 +1 known missense c.1797 p.W599C 0.002 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 tier1 - - 85 0 0.00 157 52 24.88 KNTC1 0 genome.wustl.edu 37 12 123036051 123036051 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 123036051 123036051 G A SNP KNTC1 ENST00000333479 human ensembl 74_37 +1 known missense c.1177 p.E393K 1.000 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 tier1 - - 41 0 0.00 39 11 22.00 KRBA1 0 genome.wustl.edu 37 7 149421922 149421922 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 149421922 149421922 T C SNP KRBA1 ENST00000255992 human ensembl 74_37 +1 known missense c.1108 p.W370R 0.957 NULL NULL - no_errors KRBA1 HGNC ENSG00000133619 tier1 - - 56 0 0.00 56 24 30.00 KRT25 0 genome.wustl.edu 37 17 38911154 38911154 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 38911154 38911154 G A SNP KRT25 ENST00000312150 human ensembl 74_37 -1 known missense c.370 p.R124C 1.000 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT25 HGNC ENSG00000204897 tier1 - - 43 0 0.00 33 29 46.77 KRT35 0 genome.wustl.edu 37 17 39633867 39633867 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 39633867 39633867 G A SNP KRT35 ENST00000393989 human ensembl 74_37 -1 known missense c.1123 p.R375W 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT35 HGNC ENSG00000197079 tier1 - - 53 0 0.00 58 19 24.36 KRT42P 0 genome.wustl.edu 37 17 39785135 39785135 + RNA SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 39785135 39785135 A G SNP KRT42P ENST00000438131 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KRT42P HGNC ENSG00000214514 tier1 - - 114 0 0.00 125 27 17.76 KRTAP24-1 0 genome.wustl.edu 37 21 31655068 31655068 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 21 31655068 31655068 G A SNP KRTAP24-1 ENST00000340345 human ensembl 74_37 -1 known silent c.183 p.C61 1.000 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP24-1 HGNC ENSG00000188694 tier1 - - 38 0 0.00 15 38 70.37 KRTAP4-6 0 genome.wustl.edu 37 17 39296576 39296576 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 39296576 39296576 C T SNP KRTAP4-6 ENST00000345847 human ensembl 74_37 -1 known missense c.164 p.C55Y 0.926 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-6 HGNC ENSG00000198090 tier1 - - 131 0 0.00 174 53 23.35 KRTAP4-6 0 genome.wustl.edu 37 17 39296719 39296719 + Silent SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 39296719 39296719 A G SNP KRTAP4-6 ENST00000345847 human ensembl 74_37 -1 known silent c.21 p.G7 0.750 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-6 HGNC ENSG00000198090 tier1 - - 99 0 0.00 155 48 23.65 LAMA1 0 genome.wustl.edu 37 18 6975948 6975948 + Silent SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 18 6975948 6975948 A G SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known silent c.6477 p.G2159 0.001 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 - - 14 0 0.00 15 11 42.31 LAMA4 0 genome.wustl.edu 37 6 112575076 112575077 + Frame_Shift_Del DEL GA GA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 112575076 112575077 GA - DEL LAMA4 ENST00000368638 human ensembl 74_37 -1 known frame_shift_del c.277_276 p.P93fs 0.000:0.000 NULL NULL - no_errors LAMA4 HGNC ENSG00000112769 tier1 30 0 0.00 24 17 41.46 LAT2 0 genome.wustl.edu 37 7 73639016 73639018 + In_Frame_Del DEL GAG GAG - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 73639016 73639018 GAG - DEL LAT2 ENST00000275635 human ensembl 74_37 +1 known in_frame_del c.676_678 p.E227in_frame_del 0.855:0.885:0.890 NULL NULL - no_errors LAT2 HGNC ENSG00000086730 tier1 67 0 0.00 44 36 45.00 LDHD 0 genome.wustl.edu 37 16 75147877 75147877 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 75147877 75147877 G A SNP LDHD ENST00000300051 human ensembl 74_37 -1 known silent c.885 p.P295 0.198 pfam_FAD-linked_oxidase_C,superfamily_FAD-linked_Oxase-like_C pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-linked_Oxase-like_C,superfamily_FAD-bd_2 - no_errors LDHD HGNC ENSG00000166816 tier1 - - 23 0 0.00 32 9 21.95 LDLRAP1 0 genome.wustl.edu 37 1 25889632 25889632 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 25889632 25889632 T - DEL LDLRAP1 ENST00000374338 human ensembl 74_37 +1 known frame_shift_del c.604 p.S202fs 0.000 NULL pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors LDLRAP1 HGNC ENSG00000157978 tier1 32 0 0.00 35 8 18.60 LEPREL2 0 genome.wustl.edu 37 12 6939693 6939693 + Frame_Shift_Del DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 6939693 6939693 G - DEL LEPREL2 ENST00000396725 human ensembl 74_37 +1 known frame_shift_del c.825 p.G277fs 0.003 NULL smart_Pro_4_hyd_alph - no_errors LEPREL2 HGNC ENSG00000110811 tier1 26 0 0.00 62 23 27.06 LGALS9 0 genome.wustl.edu 37 17 25969367 25969367 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 25969367 25969367 G A SNP LGALS9 ENST00000395473 human ensembl 74_37 +1 known missense c.437 p.S146N 0.646 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS9 HGNC ENSG00000168961 tier1 - - 78 0 0.00 90 17 15.74 LIG3 0 genome.wustl.edu 37 17 33323122 33323122 + Frame_Shift_Del DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 33323122 33323122 G - DEL LIG3 ENST00000378526 human ensembl 74_37 +1 known frame_shift_del c.1651 p.G552fs 1.000 pfam_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC ENSG00000005156 tier1 25 0 0.00 23 16 41.03 LIMK1 0 genome.wustl.edu 37 7 73497447 73497447 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 73497447 73497447 C T SNP LIMK1 ENST00000418310 human ensembl 74_37 +1 putative missense c.83 p.T28M 0.286 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK1 HGNC ENSG00000106683 tier1 - - 41 0 0.00 53 20 27.40 LINC00619 0 genome.wustl.edu 37 10 44341000 44341000 + RNA SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 44341000 44341000 A G SNP LINC00619 ENST00000374432 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors LINC00619 HGNC ENSG00000204187 tier1 - - 117 0 0.00 122 30 19.74 LINC00937 0 genome.wustl.edu 37 12 8543091 8543091 + RNA SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 8543091 8543091 G A SNP LINC00937 ENST00000420040 human ensembl 74_37 -1 known rna NULL NULL 0.742 - - - no_errors LINC00937 HGNC ENSG00000226091 tier1 - - 11 0 0.00 8 15 65.22 LINC00955 0 genome.wustl.edu 37 4 3589709 3589709 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 3589709 3589709 G T SNP LINC00955 ENST00000514422 human ensembl 74_37 +1 novel missense c.77 p.W26L 0.279 NULL NULL - no_errors LINC00955 HGNC ENSG00000216560 tier1 - - 100 0 0.00 120 50 29.41 LMNB2 0 genome.wustl.edu 37 19 2432415 2432415 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 2432415 2432415 G A SNP LMNB2 ENST00000325327 human ensembl 74_37 -1 known missense c.1589 p.T530M 1.000 pfam_Lamin_tail_dom pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNB2 HGNC ENSG00000176619 tier1 - - 66 0 0.00 21 62 74.70 LMO3 0 genome.wustl.edu 37 12 16713448 16713448 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 16713448 16713448 G A SNP LMO3 ENST00000453727 human ensembl 74_37 -1 known missense c.172 p.R58C 1.000 pfam_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMO3 HGNC ENSG00000048540 tier1 rs149014326 - 14 0 0.00 24 6 20.00 LMO7 0 genome.wustl.edu 37 13 76374862 76374862 + Missense_Mutation SNP A A C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 13 76374862 76374862 A C SNP LMO7 ENST00000357063 human ensembl 74_37 +1 known missense c.661 p.S221R 1.000 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 tier1 - - 62 0 0.00 40 16 28.57 LOC100128946 0 genome.wustl.edu 37 22 49290904 49290904 + RNA DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 22 49290904 49290904 G - DEL LOC100128946 ENST00000380981 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors WI2-81516E3.1 Clone_based_vega_gene ENSG00000205632 tier1 38 0 0.00 33 19 36.54 LOC100131825 0 genome.wustl.edu 37 1 159166116 159166116 + RNA SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 159166116 159166116 T C SNP LOC100131825 ENST00000415675 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTA-134P22.2 Clone_based_vega_gene ENSG00000225670 tier1 - - 41 0 0.00 58 11 15.94 LOC100132891 0 genome.wustl.edu 37 8 72965086 72965086 + RNA SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 72965086 72965086 C T SNP LOC100132891 ENST00000457356 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-383H13.1 Clone_based_vega_gene ENSG00000235531 tier1 - - 9 0 0.00 4 15 78.95 LOC100134368 0 genome.wustl.edu 37 16 436727 436729 + RNA DEL AAA AAA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 436727 436729 AAA - DEL LOC100134368 ENST00000457760 human ensembl 74_37 +1 known rna NULL NULL 0.004:0.019:0.056 - - - no_errors Z97634.3 Clone_based_vega_gene ENSG00000236829 tier1 8 0 0.00 7 3 30.00 LOC101927345 0 genome.wustl.edu 37 1 143399710 143399710 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 143399710 143399710 T 0 DEL LOC101927345 ENST00000431700 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 9 0 0.00 4 3 42.86 LOC101927599 0 genome.wustl.edu 37 19 37068397 37068397 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 37068397 37068397 T - DEL LOC101927599 ENST00000448373 human ensembl 74_37 +1 known rna NULL NULL 0.124 - - - no_errors AC092295.7 Clone_based_vega_gene ENSG00000233527 tier1 21 0 0.00 9 5 35.71 LOC101930187 0 genome.wustl.edu 37 7 153755694 153755694 + RNA DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 153755694 153755694 C - DEL LOC101930187 ENST00000425591 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC006019.3 Clone_based_vega_gene ENSG00000203335 tier1 13 0 0.00 5 8 61.54 LOC101930257 0 genome.wustl.edu 37 2 243056848 243056848 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 243056848 243056848 A - DEL LOC101930257 ENST00000431796 human ensembl 74_37 +1 known rna NULL NULL 0.992 - - - no_errors AC093642.5 Clone_based_vega_gene ENSG00000220804 tier1 41 0 0.00 30 14 31.82 LOC101930284 0 genome.wustl.edu 37 1 143230391 143230391 + RNA SNP A A T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 143230391 143230391 A T SNP LOC101930284 ENST00000422716 human ensembl 74_37 -1 known rna NULL NULL 0.080 - - - no_errors RP11-782C8.5 Clone_based_vega_gene ENSG00000225278 tier1 - - 68 0 0.00 56 6 9.68 LOC101930578 0 genome.wustl.edu 37 13 52854009 52854009 + RNA SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 13 52854009 52854009 C T SNP LOC101930578 ENST00000451298 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors RP11-248G5.8 Clone_based_vega_gene ENSG00000217576 tier1 - - 72 0 0.00 62 18 22.22 LOC643770 0 genome.wustl.edu 37 12 98880902 98880904 + In_Frame_Del DEL AAA AAA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 98880902 98880904 AAA - DEL LOC643770 ENST00000501499 human ensembl 74_37 -1 putative in_frame_del c.222_220 p.F74in_frame_del 0.250:0.230:0.199 NULL NULL - no_errors RP11-181C3.1 Clone_based_vega_gene ENSG00000245017 tier1 62 0 0.00 47 30 38.96 LOC728730 0 genome.wustl.edu 37 2 39892291 39892291 + RNA SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 39892291 39892291 C T SNP LOC728730 ENST00000415640 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC007246.3 Clone_based_vega_gene ENSG00000231312 tier1 - - 31 0 0.00 34 34 50.00 LONP2 0 genome.wustl.edu 37 16 48295365 48295365 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 48295365 48295365 A G SNP LONP2 ENST00000285737 human ensembl 74_37 +1 known missense c.754 p.T252A 0.003 tigrfam_Lon_bac/euk-typ pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ - no_errors LONP2 HGNC ENSG00000102910 tier1 - - 38 0 0.00 36 28 43.75 LPA 0 genome.wustl.edu 37 6 160958928 160958928 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 160958928 160958928 G T SNP LPA ENST00000316300 human ensembl 74_37 -1 known missense c.5801 p.A1934D 0.009 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors LPA HGNC ENSG00000198670 tier1 - - 91 0 0.00 40 25 38.46 LRFN5 0 genome.wustl.edu 37 14 42356300 42356300 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 42356300 42356300 A G SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known missense c.472 p.N158D 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 tier1 - - 32 0 0.00 52 19 26.76 LRG1 0 genome.wustl.edu 37 19 4537971 4537971 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 4537971 4537971 G T SNP LRG1 ENST00000306390 human ensembl 74_37 -1 known missense c.1025 p.A342E 0.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRG1 HGNC ENSG00000171236 20 0 0.00 28 4 12.50 LRIG3 0 genome.wustl.edu 37 12 59270334 59270334 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 59270334 59270334 G A SNP LRIG3 ENST00000320743 human ensembl 74_37 -1 known missense c.2588 p.T863M 0.999 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 LRIG3 HGNC ENSG00000139263 tier1 - - 35 0 0.00 43 11 20.37 LRP1 0 genome.wustl.edu 37 12 57579515 57579515 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 57579515 57579515 C T SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.6665 p.A2222V 1.000 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 - - 36 0 0.00 33 19 36.54 LRP1 0 genome.wustl.edu 37 12 57603939 57603940 + Frame_Shift_Ins INS - - C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 57603939 57603940 - C INS LRP1 ENST00000243077 human ensembl 74_37 +1 known frame_shift_ins c.12567_12568 p.D4192fs 0.037:0.113 superfamily_Growth_fac_rcpt_N_dom 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 44 0 0.00 77 27 25.96 LRP1B 0 genome.wustl.edu 37 2 141751679 141751679 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 141751679 141751679 G T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.2529 p.H843Q 0.023 superfamily_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 - - 52 0 0.00 70 4 5.41 LRR1 0 genome.wustl.edu 37 14 50067360 50067360 + RNA SNP T T G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 50067360 50067360 T G SNP LRR1 ENST00000557531 human ensembl 74_37 +1 putative rna NULL NULL 0.119 - - - no_errors LRR1 HGNC ENSG00000165501 tier1 - - 40 0 0.00 89 7 7.29 LRRC16A 0 genome.wustl.edu 37 6 25435803 25435803 + Silent SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 25435803 25435803 G T SNP LRRC16A ENST00000329474 human ensembl 74_37 +1 novel silent c.342 p.L114 0.968 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16A HGNC ENSG00000079691 tier1 - - 24 0 0.00 14 3 17.65 LRRC16A 0 genome.wustl.edu 37 6 25452454 25452455 + RNA DEL TT TT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 25452454 25452455 TT - DEL LRRC16A ENST00000461945 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors LRRC16A HGNC ENSG00000079691 tier1 41 0 0.00 21 6 22.22 LRRC16A 0 genome.wustl.edu 37 6 25495432 25495432 + Silent SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 25495432 25495432 T C SNP LRRC16A ENST00000329474 human ensembl 74_37 +1 novel silent c.1314 p.P438 0.486 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16A HGNC ENSG00000079691 tier1 - - 35 0 0.00 20 6 23.08 LRRC32 0 genome.wustl.edu 37 11 76371703 76371703 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 76371703 76371703 G A SNP LRRC32 ENST00000260061 human ensembl 74_37 -1 known missense c.934 p.R312C 0.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC32 HGNC ENSG00000137507 tier1 rs143082901 - 33 0 0.00 41 32 43.84 LRRC63 0 genome.wustl.edu 37 13 46840913 46840913 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 13 46840913 46840913 C - DEL LRRC63 ENST00000446175 human ensembl 74_37 +1 known frame_shift_del c.1356 p.H454fs 0.118 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC63 HGNC ENSG00000173988 tier1 40 0 0.00 28 14 33.33 LRRK1 0 genome.wustl.edu 37 15 101549153 101549153 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 15 101549153 101549153 A G SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known missense c.874 p.T292A 0.739 smart_Leu-rich_rpt_typical-subtyp 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 - - 24 0 0.00 15 43 74.14 LRRK2 0 genome.wustl.edu 37 12 40699629 40699629 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 40699629 40699629 G A SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.3820 p.D1274N 1.000 smart_Leu-rich_rpt_typical-subtyp 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 - - 46 0 0.00 29 19 39.58 LRRTM1 0 genome.wustl.edu 37 2 80530816 80530816 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 80530816 80530816 G A SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known silent c.129 p.C43 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 tier1 - - 11 0 0.00 23 6 20.69 LYPD6B 0 genome.wustl.edu 37 2 150071273 150071273 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 150071273 150071273 A - DEL LYPD6B ENST00000498249 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LYPD6B HGNC ENSG00000150556 tier1 24 0 0.00 26 17 39.53 LZTR1 0 genome.wustl.edu 37 22 21347194 21347194 + Splice_Site SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 22 21347194 21347194 G A SNP LZTR1 ENST00000215739 human ensembl 74_37 +1 known splice_site c.1260+1 e11+1 1.000 - - - no_errors LZTR1 HGNC ENSG00000099949 tier1 - - 25 0 0.00 36 27 42.86 MACF1 0 genome.wustl.edu 37 1 39789902 39789902 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 39789902 39789902 A G SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.4289 p.K1430R 1.000 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 43 0 0.00 29 15 34.09 MACF1 0 genome.wustl.edu 37 1 39951743 39951743 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 39951743 39951743 A - DEL MACF1 ENST00000496360 human ensembl 74_37 +1 known rna NULL NULL 0.084 - - - no_errors MACF1 HGNC ENSG00000127603 tier1 35 0 0.00 18 21 53.85 MACF1 0 genome.wustl.edu 37 1 39951776 39951776 + RNA SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 39951776 39951776 G A SNP MACF1 ENST00000496360 human ensembl 74_37 +1 known rna NULL NULL 0.939 - - - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 35 0 0.00 39 7 15.22 MADCAM1 0 genome.wustl.edu 37 19 504772 504772 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 504772 504772 C T SNP MADCAM1 ENST00000215637 human ensembl 74_37 +1 known missense c.956 p.P319L 0.004 NULL pfam_Adhes-Ig-like,smart_Ig_sub,pfscan_Ig-like_dom - no_errors MADCAM1 HGNC ENSG00000099866 tier1 - - 31 0 0.00 34 38 52.78 MAEA 0 genome.wustl.edu 37 4 1332301 1332301 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 1332301 1332301 G A SNP MAEA ENST00000303400 human ensembl 74_37 +1 known missense c.991 p.A331T 1.000 NULL smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors MAEA HGNC ENSG00000090316 tier1 - - 50 0 0.00 64 54 45.76 MAGED1 0 genome.wustl.edu 37 X 51639754 51639754 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 X 51639754 51639754 C T SNP MAGED1 ENST00000375695 human ensembl 74_37 +1 known missense c.1171 p.P391S 0.934 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC ENSG00000179222 tier1 - - 35 0 0.00 15 41 73.21 MAOB 0 genome.wustl.edu 37 X 43741511 43741511 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 X 43741511 43741511 C - DEL MAOB ENST00000378069 human ensembl 74_37 -1 known frame_shift_del c.35 p.G12fs 1.000 pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors MAOB HGNC ENSG00000069535 tier1 25 0 0.00 8 21 72.41 MAP1A 0 genome.wustl.edu 37 15 43817459 43817459 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 15 43817459 43817459 C T SNP MAP1A ENST00000399453 human ensembl 74_37 +1 known missense c.3788 p.A1263V 0.000 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 tier1 - - 17 0 0.00 8 25 75.76 MAP2 0 genome.wustl.edu 37 2 210561667 210561667 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 210561667 210561667 A - DEL MAP2 ENST00000360351 human ensembl 74_37 +1 known frame_shift_del c.4414 p.T1474fs 1.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 tier1 27 0 0.00 43 5 10.42 MAP2K1 0 genome.wustl.edu 37 15 66777404 66777404 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 15 66777404 66777404 C T SNP MAP2K1 ENST00000307102 human ensembl 74_37 +1 known missense c.770 p.A257V 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,prints_Ser-Thr/Tyr_kinase_cat_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_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP2K1 HGNC ENSG00000169032 tier1 - - 43 0 0.00 12 52 81.25 MAP3K11 0 genome.wustl.edu 37 11 65374944 65374944 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 65374944 65374944 C T SNP MAP3K11 ENST00000309100 human ensembl 74_37 -1 known missense c.1286 p.R429H 0.998 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K11 HGNC ENSG00000173327 10 0 0.00 54 6 10.00 MAP3K19 0 genome.wustl.edu 37 2 135763096 135763096 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 135763096 135763096 G A SNP MAP3K19 ENST00000375845 human ensembl 74_37 -1 known silent c.144 p.F48 0.993 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 MAP3K19 HGNC ENSG00000176601 tier1 - - 54 0 0.00 45 36 44.44 MAP3K4 0 genome.wustl.edu 37 6 161455391 161455391 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 161455391 161455391 C - DEL MAP3K4 ENST00000392142 human ensembl 74_37 +1 known frame_shift_del c.253 p.S87fs 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 MAP3K4 HGNC ENSG00000085511 tier1 44 0 0.00 39 17 30.36 MAP4K4 0 genome.wustl.edu 37 2 102456423 102456423 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 102456423 102456423 A G SNP MAP4K4 ENST00000324219 human ensembl 74_37 +1 known missense c.916 p.I306V 1.000 superfamily_Kinase-like_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 MAP4K4 HGNC ENSG00000071054 tier1 - - 42 0 0.00 35 23 39.66 MAP7D1 0 genome.wustl.edu 37 1 36642154 36642154 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 36642154 36642154 C T SNP MAP7D1 ENST00000373151 human ensembl 74_37 +1 known missense c.1205 p.P402L 0.000 NULL pfam_MAP7 - no_errors MAP7D1 HGNC ENSG00000116871 tier1 - - 22 0 0.00 10 18 64.29 MAP9 0 genome.wustl.edu 37 4 156281335 156281335 + Silent SNP T T G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 156281335 156281335 T G SNP MAP9 ENST00000311277 human ensembl 74_37 -1 known silent c.1035 p.A345 0.082 NULL NULL - no_errors MAP9 HGNC ENSG00000164114 tier1 - - 62 0 0.00 33 14 29.79 MARCH4 0 genome.wustl.edu 37 2 217234779 217234779 + Frame_Shift_Del DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 217234779 217234779 G - DEL MARCH4 ENST00000273067 human ensembl 74_37 -1 known frame_shift_del c.205 p.Q69fs 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH4 HGNC ENSG00000144583 tier1 18 0 0.00 17 16 48.48 MARCO 0 genome.wustl.edu 37 2 119739053 119739053 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 119739053 119739053 A G SNP MARCO ENST00000327097 human ensembl 74_37 +1 known missense c.835 p.K279E 0.851 NULL pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors MARCO HGNC ENSG00000019169 tier1 - - 20 0 0.00 29 6 17.14 MAST2 0 genome.wustl.edu 37 1 46499903 46499903 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 46499903 46499903 A G SNP MAST2 ENST00000361297 human ensembl 74_37 +1 known missense c.3833 p.Q1278R 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 tier1 - - 24 0 0.00 16 4 20.00 MAST2 0 genome.wustl.edu 37 1 46501229 46501229 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 46501229 46501229 C A SNP MAST2 ENST00000361297 human ensembl 74_37 +1 known missense c.4888 p.L1630I 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 tier1 - - 22 0 0.00 25 6 18.75 MAVS 0 genome.wustl.edu 37 20 3845276 3845276 + Silent SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 3845276 3845276 T C SNP MAVS ENST00000428216 human ensembl 74_37 +1 known silent c.999 p.P333 0.203 NULL NULL - no_errors MAVS HGNC ENSG00000088888 tier1 - - 29 0 0.00 46 23 32.86 MAZ 0 genome.wustl.edu 37 16 29821568 29821568 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 29821568 29821568 C T SNP MAZ ENST00000563402 human ensembl 74_37 +1 novel missense c.419 p.A140V 0.133 NULL NULL - no_errors MAZ HGNC ENSG00000103495 tier1 - - 27 0 0.00 13 5 27.78 MBD1 0 genome.wustl.edu 37 18 47802303 47802304 + Frame_Shift_Del DEL CA CA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 18 47802303 47802304 CA - DEL MBD1 ENST00000424334 human ensembl 74_37 -1 known frame_shift_del c.643_642 p.C214fs 1.000:0.747 pfam_Znf_CXXC,pfscan_Znf_CXXC pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC - no_errors MBD1 HGNC ENSG00000141644 tier1 21 0 0.00 41 7 14.58 MBIP 0 genome.wustl.edu 37 14 36770037 36770037 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 36770037 36770037 A - DEL MBIP ENST00000604154 human ensembl 74_37 -1 putative rna NULL NULL 0.241 - - - no_errors MBIP HGNC ENSG00000151332 tier1 28 0 0.00 21 12 36.36 MCTP2 0 genome.wustl.edu 37 15 94858854 94858854 + Nonsense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 15 94858854 94858854 C T SNP MCTP2 ENST00000357742 human ensembl 74_37 +1 known nonsense c.625 p.R209* 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors MCTP2 HGNC ENSG00000140563 tier1 rs200389318 - 90 0 0.00 52 113 68.48 MDGA1 0 genome.wustl.edu 37 6 37619877 37619877 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 37619877 37619877 T C SNP MDGA1 ENST00000297153 human ensembl 74_37 -1 known missense c.1222 p.S408G 1.000 pfam_Ig_I-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_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA1 HGNC ENSG00000112139 38 0 0.00 25 9 26.47 MDGA2 0 genome.wustl.edu 37 14 47530771 47530771 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 47530771 47530771 T - DEL MDGA2 ENST00000439988 human ensembl 74_37 -1 known frame_shift_del c.1206 p.G403fs 1.000 NULL 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 16 0 0.00 19 5 20.83 MDM2 0 genome.wustl.edu 37 12 69233090 69233090 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 69233090 69233090 C - DEL MDM2 ENST00000462284 human ensembl 74_37 +1 known frame_shift_del c.955 p.L321fs 1.000 pfam_Znf_RanBP2,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2 pfam_SWIB_MDM2_domain,pfam_Znf_RanBP2,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING - no_errors MDM2 HGNC ENSG00000135679 tier1 23 0 0.00 28 7 20.00 MED13L 0 genome.wustl.edu 37 12 116418612 116418612 + Silent SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 116418612 116418612 T C SNP MED13L ENST00000281928 human ensembl 74_37 -1 known silent c.5307 p.K1769 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 tier1 - - 35 0 0.00 20 23 53.49 MED16 0 genome.wustl.edu 37 19 875405 875405 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 875405 875405 G A SNP MED16 ENST00000325464 human ensembl 74_37 -1 known missense c.1610 p.S537L 0.998 pfam_Mediator_Med16 pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MED16 HGNC ENSG00000175221 31 0 0.00 73 4 5.19 MED17 0 genome.wustl.edu 37 11 93521196 93521196 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 93521196 93521196 C T SNP MED17 ENST00000251871 human ensembl 74_37 +1 known missense c.280 p.P94S 1.000 pfam_Mediator_Med17 pfam_Mediator_Med17 - no_errors MED17 HGNC ENSG00000042429 tier1 - - 57 0 0.00 30 20 40.00 MEGF6 0 genome.wustl.edu 37 1 3519090 3519090 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 3519090 3519090 G A SNP MEGF6 ENST00000356575 human ensembl 74_37 -1 known missense c.206 p.T69M 0.051 pfscan_EMI_domain 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 - - 84 0 0.00 79 24 23.30 MEOX2 0 genome.wustl.edu 37 7 15652021 15652021 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 15652021 15652021 C T SNP MEOX2 ENST00000262041 human ensembl 74_37 -1 known silent c.906 p.A302 0.311 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MEOX2 HGNC ENSG00000106511 tier1 - - 63 0 0.00 96 8 7.55 MET 0 genome.wustl.edu 37 7 116340117 116340117 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 116340117 116340117 G A SNP MET ENST00000318493 human ensembl 74_37 +1 known missense c.979 p.A327T 1.000 pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MET HGNC ENSG00000105976 tier1 - - 41 0 0.00 38 23 37.10 METTL3 0 genome.wustl.edu 37 14 21969886 21969886 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 21969886 21969886 G A SNP METTL3 ENST00000298717 human ensembl 74_37 -1 known missense c.883 p.R295C 1.000 NULL pfam_MT-A70-like,pfscan_MT-A70-like - no_errors METTL3 HGNC ENSG00000165819 tier1 - - 64 0 0.00 102 25 19.69 MICAL3 0 genome.wustl.edu 37 22 18376579 18376579 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 22 18376579 18376579 C T SNP MICAL3 ENST00000441493 human ensembl 74_37 -1 known missense c.1541 p.R514H 0.992 superfamily_CH-domain 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 - - 18 0 0.00 21 5 19.23 MIR133A1 0 genome.wustl.edu 37 18 19408831 19408832 + RNA INS - - T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 18 19408831 19408832 - T INS MIR133A1 ENST00000581072 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors MIR133A1 HGNC ENSG00000265142 tier1 17 0 0.00 13 4 23.53 MIR133A1 0 genome.wustl.edu 37 18 19408832 19408832 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 18 19408832 19408832 T - DEL MIR133A1 ENST00000581072 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR133A1 HGNC ENSG00000265142 tier1 17 0 0.00 10 7 41.18 MIR3118-2 0 genome.wustl.edu 37 1 143163772 143163772 + RNA SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 143163772 143163772 G A SNP MIR3118-2 ENST00000582397 human ensembl 74_37 +1 known rna NULL NULL 0.121 - - - no_errors MIR3118-2 HGNC ENSG00000265661 82 0 0.00 91 36 25.90 MIR3147 0 genome.wustl.edu 37 7 57472766 57472766 + RNA SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 57472766 57472766 G A SNP MIR3147 ENST00000577811 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors MIR3147 HGNC ENSG00000266168 tier1 - - 40 0 0.00 54 20 27.03 MIR3193 0 genome.wustl.edu 37 20 30194999 30194999 + RNA SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 30194999 30194999 G T SNP MIR3193 ENST00000578262 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors MIR3193 HGNC ENSG00000264395 38 0 0.00 66 4 5.71 MIR3657 0 genome.wustl.edu 37 12 112475449 112475451 + RNA DEL ACA ACA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 ACA ACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 112475449 112475451 ACA - DEL MIR3657 ENST00000584818 human ensembl 74_37 -1 known rna NULL NULL 0.057:0.065:0.071 - - - no_errors MIR3657 HGNC ENSG00000266370 tier1 27 0 0.00 28 13 31.71 MIR3916 0 genome.wustl.edu 37 1 247365176 247365176 + RNA DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 247365176 247365176 G - DEL MIR3916 ENST00000606212 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR3916 HGNC ENSG00000227671 tier1 13 0 0.00 8 7 46.67 MIR4435-1HG 0 genome.wustl.edu 37 2 112252464 112252464 + RNA SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 112252464 112252464 G A SNP MIR4435-1HG ENST00000308604 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR4435-1HG HGNC ENSG00000172965 49 0 0.00 106 6 5.36 MIR4800 0 genome.wustl.edu 37 4 2251851 2251854 + RNA DEL CCTT CCTT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 CCTT CCTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 2251851 2251854 CCTT - DEL MIR4800 ENST00000537353 human ensembl 74_37 -1 known rna NULL NULL 0.898:0.972:0.995:0.998 - - - no_errors MIR4800 HGNC ENSG00000265080 tier1 50 0 0.00 54 32 37.21 MIR567 0 genome.wustl.edu 37 3 111831724 111831725 + RNA DEL AA AA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 111831724 111831725 AA - DEL MIR567 ENST00000385205 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors MIR567 HGNC ENSG00000207940 tier1 32 0 0.00 22 4 15.38 MIR631 0 genome.wustl.edu 37 15 75645967 75645967 + RNA SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 15 75645967 75645967 T C SNP MIR631 ENST00000384904 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors MIR631 HGNC ENSG00000207636 9 0 0.00 7 4 36.36 MIR644A 0 genome.wustl.edu 37 20 33054129 33054130 + RNA INS - - T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 33054129 33054130 - T INS MIR644A ENST00000385262 human ensembl 74_37 +1 known rna NULL NULL 0.024:0.030 - - - no_errors MIR644A HGNC ENSG00000207997 tier1 57 0 0.00 62 16 20.51 MIR874 0 genome.wustl.edu 37 5 136983320 136983320 + RNA SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 136983320 136983320 C T SNP MIR874 ENST00000401190 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR874 HGNC ENSG00000216009 tier1 - - 27 0 0.00 30 32 51.61 MIS18BP1 0 genome.wustl.edu 37 14 45693722 45693722 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 45693722 45693722 T - DEL MIS18BP1 ENST00000310806 human ensembl 74_37 -1 known frame_shift_del c.2068 p.S690fs 0.797 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 tier1 43 0 0.00 48 32 40.00 MIS18BP1 0 genome.wustl.edu 37 14 45716019 45716019 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 45716019 45716019 T 0 DEL MIS18BP1 ENST00000310806 human ensembl 74_37 -1 known frame_shift_del c.471 p.K157fs 0.001 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 116 0 0.00 198 27 12.00 MKL2 0 genome.wustl.edu 37 16 14351991 14351991 + Missense_Mutation SNP C C G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 14351991 14351991 C G SNP MKL2 ENST00000341243 human ensembl 74_37 +1 known missense c.2704 p.L902V 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 - - 37 0 0.00 32 8 20.00 MMP9 0 genome.wustl.edu 37 20 44639804 44639804 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 44639804 44639804 C T SNP MMP9 ENST00000372330 human ensembl 74_37 +1 known silent c.672 p.N224 1.000 pfam_Pept_M10_metallopeptidase,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd 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 - - 38 0 0.00 56 34 37.78 MORF4L1 0 genome.wustl.edu 37 15 79189830 79189830 + RNA SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 15 79189830 79189830 G T SNP MORF4L1 ENST00000561171 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MORF4L1 HGNC ENSG00000185787 tier1 - - 64 0 0.00 72 20 21.74 MOV10 0 genome.wustl.edu 37 1 113239426 113239426 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 113239426 113239426 G A SNP MOV10 ENST00000357443 human ensembl 74_37 +1 known missense c.2156 p.G719D 0.992 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors MOV10 HGNC ENSG00000155363 tier1 - - 35 0 0.00 30 12 28.57 MPP2 0 genome.wustl.edu 37 17 41958085 41958085 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 41958085 41958085 G A SNP MPP2 ENST00000461854 human ensembl 74_37 -1 known missense c.1196 p.P399L 0.984 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like 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 MPP2 HGNC ENSG00000108852 tier1 - - 28 0 0.00 26 9 25.71 MPZL1 0 genome.wustl.edu 37 1 167734970 167734970 + Missense_Mutation SNP C C G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 167734970 167734970 C G SNP MPZL1 ENST00000359523 human ensembl 74_37 +1 known missense c.242 p.A81G 0.105 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Myelin_P0 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Myelin_P0 - no_errors MPZL1 HGNC ENSG00000197965 tier1 - - 32 0 0.00 31 7 18.42 MROH1 0 genome.wustl.edu 37 8 145267982 145267982 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 145267982 145267982 G A SNP MROH1 ENST00000423230 human ensembl 74_37 +1 known silent c.1227 p.P409 0.000 NULL superfamily_ARM-type_fold - no_errors MROH1 HGNC ENSG00000179832 tier1 - - 35 0 0.00 92 10 9.80 MROH2A 0 genome.wustl.edu 37 2 234704629 234704629 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 234704629 234704629 C T SNP MROH2A ENST00000389758 human ensembl 74_37 +1 novel missense c.1076 p.P359L 0.986 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2A HGNC ENSG00000185038 tier1 - - 44 0 0.00 33 37 52.86 MRPL10 0 genome.wustl.edu 37 17 45906019 45906019 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 45906019 45906019 G T SNP MRPL10 ENST00000351111 human ensembl 74_37 -1 known missense c.70 p.Q24K 1.000 NULL pfam_Ribosomal_L10/acidic_P0 - no_errors MRPL10 HGNC ENSG00000159111 tier1 - - 31 0 0.00 49 4 7.55 MRPL9 0 genome.wustl.edu 37 1 151735572 151735573 + Frame_Shift_Ins INS - - C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 151735572 151735573 - C INS MRPL9 ENST00000368830 human ensembl 74_37 -1 known frame_shift_ins c.204_203 p.R69fs 1.000:1.000 NULL pfam_Ribosomal_L9_N,superfamily_Ribosomal_L9/RNase_H1_N - no_errors MRPL9 HGNC ENSG00000143436 tier1 17 0 0.00 27 4 12.90 MS4A6A 0 genome.wustl.edu 37 11 59947419 59947419 + Missense_Mutation SNP C C G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 59947419 59947419 C G SNP MS4A6A ENST00000323961 human ensembl 74_37 -1 known missense c.167 p.G56A 0.002 pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt - no_errors MS4A6A HGNC ENSG00000110077 tier1 - - 45 0 0.00 31 22 41.51 MS4A6A 0 genome.wustl.edu 37 11 59947431 59947431 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 59947431 59947431 T C SNP MS4A6A ENST00000323961 human ensembl 74_37 -1 known missense c.155 p.Q52R 1.000 pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt - no_errors MS4A6A HGNC ENSG00000110077 tier1 - - 46 0 0.00 29 20 40.82 MST1 0 genome.wustl.edu 37 3 49721799 49721799 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 49721799 49721799 C T SNP MST1 ENST00000449682 human ensembl 74_37 -1 known missense c.1964 p.R655Q 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 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 - - 25 0 0.00 4 20 83.33 MTA3 0 genome.wustl.edu 37 2 42936305 42936306 + RNA INS - - T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 42936305 42936306 - T INS MTA3 ENST00000475383 human ensembl 74_37 +1 known rna NULL NULL 0.010:0.005 - - - no_errors MTA3 HGNC ENSG00000057935 tier1 56 0 0.00 69 20 22.47 MTERFD2 0 genome.wustl.edu 37 2 242035595 242035595 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 242035595 242035595 G A SNP MTERFD2 ENST00000241527 human ensembl 74_37 -1 known missense c.964 p.R322W 0.999 NULL pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERFD2 HGNC ENSG00000122085 tier1 - - 79 0 0.00 67 46 40.71 MTF2 0 genome.wustl.edu 37 1 93602676 93602678 + RNA DEL AAA AAA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 93602676 93602678 AAA - DEL MTF2 ENST00000467953 human ensembl 74_37 +1 known rna NULL NULL 1.000:0.997:0.993 - - - no_errors MTF2 HGNC ENSG00000143033 tier1 34 0 0.00 44 11 20.00 MTHFD2 0 genome.wustl.edu 37 2 74437167 74437167 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 74437167 74437167 C T SNP MTHFD2 ENST00000394053 human ensembl 74_37 +1 known missense c.661 p.R221C 0.994 pfam_THF_DH/CycHdrlase_NAD-bd_dom pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD2 HGNC ENSG00000065911 tier1 - - 55 0 0.00 50 21 29.58 MTHFSD 0 genome.wustl.edu 37 16 86585831 86585831 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 86585831 86585831 A G SNP MTHFSD ENST00000381214 human ensembl 74_37 -1 known missense c.191 p.V64A 0.996 pfam_FTHF_cligase pfam_FTHF_cligase,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MTHFSD HGNC ENSG00000103248 tier1 - - 20 0 0.00 31 15 32.61 MTL5 0 genome.wustl.edu 37 11 68517736 68517736 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 68517736 68517736 C T SNP MTL5 ENST00000255087 human ensembl 74_37 -1 known silent c.393 p.A131 0.015 NULL pfam_CRC,superfamily_Thionin - no_errors MTL5 HGNC ENSG00000132749 tier1 - - 28 0 0.00 65 15 18.75 MTMR7 0 genome.wustl.edu 37 8 17161980 17161980 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 17161980 17161980 C T SNP MTMR7 ENST00000180173 human ensembl 74_37 -1 known silent c.1401 p.R467 0.982 NULL pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR7 HGNC ENSG00000003987 tier1 - - 77 0 0.00 18 41 69.49 MTUS1 0 genome.wustl.edu 37 8 17504618 17504618 + RNA SNP T T A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 17504618 17504618 T A SNP MTUS1 ENST00000518889 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors MTUS1 HGNC ENSG00000129422 tier1 - - 29 0 0.00 11 18 62.07 MTUS1 0 genome.wustl.edu 37 8 17504627 17504627 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 17504627 17504627 A - DEL MTUS1 ENST00000518889 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors MTUS1 HGNC ENSG00000129422 tier1 28 0 0.00 12 11 47.83 MUC16 0 genome.wustl.edu 37 19 8971684 8971684 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 8971684 8971684 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.42908 p.H14303R 0.573 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 57 0 0.00 53 9 14.52 MUC17 0 genome.wustl.edu 37 7 100677782 100677782 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 100677782 100677782 G A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.3085 p.G1029S 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 81 0 0.00 88 54 38.03 MUC4 0 genome.wustl.edu 37 3 195506197 195506197 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 195506197 195506197 T C SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.12254 p.D4085G 0.164 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 8 0 0.00 14 5 26.32 MUC5B 0 genome.wustl.edu 37 11 1252187 1252187 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 1252187 1252187 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.1501 p.G501S 0.325 pfam_VWF_type-D,smart_VWF_type-D 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 - - 23 0 0.00 21 8 27.59 MUC5B 0 genome.wustl.edu 37 11 1282626 1282626 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 1282626 1282626 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.17086 p.A5696T 0.000 smart_Cys_knot_C,pfscan_Cys_knot_C 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 - - 71 0 0.00 68 36 34.29 MUSK 0 genome.wustl.edu 37 9 113457777 113457777 + Silent SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 113457777 113457777 A G SNP MUSK ENST00000374448 human ensembl 74_37 +1 known silent c.453 p.S151 0.476 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 tier1 - - 40 0 0.00 24 9 27.27 MYBL1 0 genome.wustl.edu 37 8 67488453 67488453 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 67488453 67488453 T - DEL MYBL1 ENST00000522677 human ensembl 74_37 -1 known frame_shift_del c.1259 p.N420fs 0.992 NULL pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL1 HGNC ENSG00000185697 tier1 75 0 0.00 176 46 20.72 MYH11 0 genome.wustl.edu 37 16 15802686 15802687 + Frame_Shift_Ins INS - - G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 15802686 15802687 - G INS MYH11 ENST00000452625 human ensembl 74_37 -1 known frame_shift_ins c.5820_5819 p.Q1941fs 1.000:1.000 NULL 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,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH11 HGNC ENSG00000133392 tier1 42 0 0.00 39 13 25.00 MYH6 0 genome.wustl.edu 37 14 23859332 23859334 + In_Frame_Del DEL CTC CTC - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 23859332 23859334 CTC 0 DEL MYH6 ENST00000356287 human ensembl 74_37 -1 known in_frame_del c.3666_3664 p.E1222in_frame_del 1.000:1.000:1.000 pfam_Myosin_tail,superfamily_Prefoldin 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 MYH6 HGNC ENSG00000197616 53 0 0.00 79 15 15.96 MYH7B 0 genome.wustl.edu 37 20 33565839 33565839 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 33565839 33565839 G A SNP MYH7B ENST00000262873 human ensembl 74_37 +1 novel missense c.157 p.A53T 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 tier1 - - 39 0 0.00 69 26 27.37 MYH7B 0 genome.wustl.edu 37 20 33577720 33577720 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 33577720 33577720 G A SNP MYH7B ENST00000262873 human ensembl 74_37 +1 novel missense c.1891 p.V631M 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 tier1 - - 40 0 0.00 62 12 16.22 MYO18A 0 genome.wustl.edu 37 17 27424355 27424355 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 27424355 27424355 C T SNP MYO18A ENST00000354329 human ensembl 74_37 -1 known silent c.4116 p.R1372 1.000 pfam_Myosin_tail 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 - - 49 0 0.00 63 17 20.99 MYO18B 0 genome.wustl.edu 37 22 26224901 26224901 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 22 26224901 26224901 G A SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.2945 p.R982Q 0.987 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 39 33 45.21 MYO1A 0 genome.wustl.edu 37 12 57422573 57422573 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 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 52 0 0.00 77 18 18.95 MYO1D 0 genome.wustl.edu 37 17 30986155 30986155 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 30986155 30986155 C A SNP MYO1D ENST00000318217 human ensembl 74_37 -1 known missense c.2323 p.A775S 1.000 NULL 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 MYO1D HGNC ENSG00000176658 tier1 - - 66 0 0.00 68 17 20.00 MYO3B 0 genome.wustl.edu 37 2 171371459 171371459 + Silent SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 171371459 171371459 A G SNP MYO3B ENST00000334231 human ensembl 74_37 +1 known silent c.3426 p.P1142 0.000 NULL pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 tier1 - - 27 0 0.00 28 20 41.67 MYO7A 0 genome.wustl.edu 37 11 76901898 76901898 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 76901898 76901898 A G SNP MYO7A ENST00000409709 human ensembl 74_37 +1 known missense c.3907 p.I1303V 1.000 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain 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 - - 23 0 0.00 37 22 37.29 MYRFL 0 genome.wustl.edu 37 12 70321513 70321514 + Frame_Shift_Ins INS - - A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 70321513 70321514 - A INS MYRFL ENST00000552032 human ensembl 74_37 +1 putative frame_shift_ins c.1815_1816 p.N607fs 0.000:0.000 NULL pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors MYRFL HGNC ENSG00000166268 tier1 21 0 0.00 16 6 27.27 MYT1L 0 genome.wustl.edu 37 2 1983001 1983001 + Splice_Site SNP T T G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 1983001 1983001 T G SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known splice_site c.90-2 e3-2 1.000 - - - no_errors MYT1L HGNC ENSG00000186487 tier1 - - 21 0 0.00 31 6 16.22 NAA20 0 genome.wustl.edu 37 20 20013995 20013995 + RNA SNP G G C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 20013995 20013995 G C SNP NAA20 ENST00000463154 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NAA20 HGNC ENSG00000173418 tier1 - - 52 0 0.00 92 7 7.00 NAV2-AS1 0 genome.wustl.edu 37 11 20141368 20141368 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 20141368 20141368 A - DEL NAV2-AS1 ENST00000526642 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NAV2-AS1 HGNC ENSG00000254894 tier1 21 0 0.00 22 9 29.03 NCKAP5 0 genome.wustl.edu 37 2 133489420 133489420 + Missense_Mutation SNP T T G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 133489420 133489420 T G SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.5333 p.D1778A 0.163 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 tier1 - - 38 0 0.00 53 29 35.37 NCKAP5 0 genome.wustl.edu 37 2 133539753 133539753 + Missense_Mutation SNP T T A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 133539753 133539753 T A SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.4631 p.N1544I 0.999 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 tier1 - - 31 0 0.00 31 6 16.22 NCKAP5 0 genome.wustl.edu 37 2 133540491 133540491 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 133540491 133540491 C T SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.3893 p.R1298H 1.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 tier1 - - 72 0 0.00 66 19 22.35 NCL 0 genome.wustl.edu 37 2 232326393 232326393 + Missense_Mutation SNP C C G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 232326393 232326393 C G SNP NCL ENST00000322723 human ensembl 74_37 -1 known missense c.471 p.E157D 0.001 NULL pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors NCL HGNC ENSG00000115053 173 0 0.00 224 29 11.42 NCOA6 0 genome.wustl.edu 37 20 33346694 33346694 + Frame_Shift_Del DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 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 20 0 0.00 32 11 25.58 NCOR2 0 genome.wustl.edu 37 12 124862853 124862853 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 124862853 124862853 C T SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known silent c.2097 p.V699 0.615 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 tier1 - - 44 0 0.00 72 12 14.29 NDUFB2-AS1 0 genome.wustl.edu 37 7 140395555 140395556 + RNA DEL TT TT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 140395555 140395556 TT - DEL NDUFB2-AS1 ENST00000465466 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors NDUFB2-AS1 HGNC ENSG00000240889 tier1 16 0 0.00 27 7 20.59 NDUFB7 0 genome.wustl.edu 37 19 14677646 14677646 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 14677646 14677646 C T SNP NDUFB7 ENST00000215565 human ensembl 74_37 -1 known missense c.212 p.R71H 0.998 pfam_NADH_UbQ_OxRdtase_B18_su pfam_NADH_UbQ_OxRdtase_B18_su - no_errors NDUFB7 HGNC ENSG00000099795 tier1 - - 36 0 0.00 50 11 18.03 NDUFS2 0 genome.wustl.edu 37 1 161179901 161179901 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 161179901 161179901 G T SNP NDUFS2 ENST00000367993 human ensembl 74_37 +1 known missense c.703 p.D235Y 1.000 pfam_NADH_Q_OxRdtase_suD,tigrfam_NDH1_su_D/H pfam_NADH_Q_OxRdtase_suD,tigrfam_NDH1_su_D/H - no_errors NDUFS2 HGNC ENSG00000158864 tier1 - - 46 0 0.00 41 13 24.07 NEB 0 genome.wustl.edu 37 2 152410372 152410372 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 152410372 152410372 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.19596 p.H6532 0.992 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 - - 27 0 0.00 47 18 27.69 NFATC2 0 genome.wustl.edu 37 20 50140068 50140068 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 50140068 50140068 C T SNP NFATC2 ENST00000396009 human ensembl 74_37 -1 known missense c.712 p.V238M 1.000 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 tier1 - - 28 0 0.00 56 58 50.88 NFATC2IP 0 genome.wustl.edu 37 16 28967541 28967541 + Missense_Mutation SNP A A T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 28967541 28967541 A T SNP NFATC2IP ENST00000320805 human ensembl 74_37 +1 known missense c.729 p.Q243H 0.000 NULL pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors NFATC2IP HGNC ENSG00000176953 tier1 - - 30 0 0.00 22 14 38.89 NFRKB 0 genome.wustl.edu 37 11 129762692 129762692 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 129762692 129762692 C A SNP NFRKB ENST00000524794 human ensembl 74_37 -1 known missense c.92 p.G31V 1.000 NULL NULL - no_errors NFRKB HGNC ENSG00000170322 tier1 - - 19 0 0.00 15 8 34.78 NFYA 0 genome.wustl.edu 37 6 41059278 41059279 + Frame_Shift_Ins INS - - T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 41059278 41059279 - T INS NFYA ENST00000341376 human ensembl 74_37 +1 known frame_shift_ins c.559_560 p.S188fs 1.000:1.000 NULL pfam_TF_CBFB,smart_TF_CBFB,pfscan_TF_CBFB,prints_TF_CBFB - no_errors NFYA HGNC ENSG00000001167 tier1 26 0 0.00 13 9 40.91 NID1 0 genome.wustl.edu 37 1 236141179 236141179 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 236141179 236141179 G A SNP NID1 ENST00000264187 human ensembl 74_37 -1 known silent c.3732 p.I1244 0.039 smart_EG-like_dom pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 tier1 - - 24 0 0.00 28 12 30.00 NKAPL 0 genome.wustl.edu 37 6 28227519 28227520 + Frame_Shift_Del DEL GA GA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 28227519 28227520 GA - DEL NKAPL ENST00000343684 human ensembl 74_37 +1 known frame_shift_del c.370_371 p.R127fs 0.996:1.000 NULL pfam_DUF926 - no_errors NKAPL HGNC ENSG00000189134 tier1 26 0 0.00 28 4 12.50 NKD1 0 genome.wustl.edu 37 16 50667134 50667135 + Frame_Shift_Ins INS - - C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 50667134 50667135 - C INS NKD1 ENST00000268459 human ensembl 74_37 +1 known frame_shift_ins c.855_856 p.R287fs 1.000:1.000 NULL pfscan_EF_hand_dom - no_errors NKD1 HGNC ENSG00000140807 tier1 24 0 0.00 41 24 36.92 NKRF 0 genome.wustl.edu 37 X 118722358 118722359 + RNA DEL TT TT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 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 23 0 0.00 10 12 54.55 NLGN3 0 genome.wustl.edu 37 X 70390928 70390929 + RNA DEL TT TT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 X 70390928 70390929 TT - DEL NLGN3 ENST00000476589 human ensembl 74_37 +1 known rna NULL NULL 0.997:0.997 - - - no_errors NLGN3 HGNC ENSG00000196338 tier1 22 0 0.00 21 19 47.50 NLRC5 0 genome.wustl.edu 37 16 57113482 57113482 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 57113482 57113482 C T SNP NLRC5 ENST00000262510 human ensembl 74_37 +1 known silent c.5262 p.N1754 0.997 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 23 0 0.00 60 7 10.45 NLRP12 0 genome.wustl.edu 37 19 54313232 54313232 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 54313232 54313232 G A SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known missense c.1681 p.R561C 1.000 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 NLRP12 HGNC ENSG00000142405 tier1 - - 20 0 0.00 12 12 50.00 NLRP9 0 genome.wustl.edu 37 19 56249721 56249722 + Frame_Shift_Ins INS - - A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 56249721 56249722 - A INS NLRP9 ENST00000332836 human ensembl 74_37 -1 known frame_shift_ins c.20_19 p.S7fs 0.014:0.009 superfamily_DEATH-like_dom,pfscan_DAPIN 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 28 18 39.13 NME5 0 genome.wustl.edu 37 5 137451362 137451362 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 137451362 137451362 T - DEL NME5 ENST00000514481 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors NME5 HGNC ENSG00000112981 tier1 55 0 0.00 45 8 15.09 NME7 0 genome.wustl.edu 37 1 169101823 169101823 + RNA SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 169101823 169101823 A G SNP NME7 ENST00000493481 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors NME7 HGNC ENSG00000143156 tier1 - - 11 0 0.00 13 12 48.00 NOC2L 0 genome.wustl.edu 37 1 889215 889215 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 889215 889215 C T SNP NOC2L ENST00000327044 human ensembl 74_37 -1 known missense c.835 p.V279M 0.008 superfamily_ARM-type_fold pfam_Noc2,superfamily_ARM-type_fold - no_errors NOC2L HGNC ENSG00000188976 tier1 - - 24 0 0.00 20 10 33.33 NOD2 0 genome.wustl.edu 37 16 50745137 50745137 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 50745137 50745137 C T SNP NOD2 ENST00000300589 human ensembl 74_37 +1 known missense c.1315 p.R439C 0.493 superfamily_P-loop_NTPase pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC ENSG00000167207 tier1 - - 17 0 0.00 19 11 36.67 NOLC1 0 genome.wustl.edu 37 10 103919299 103919299 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 103919299 103919299 A - DEL NOLC1 ENST00000405356 human ensembl 74_37 +1 known frame_shift_del c.863 p.K290fs 0.998 NULL pfam_SRP40_C,pfscan_LisH_dimerisation - no_errors NOLC1 HGNC ENSG00000166197 tier1 28 0 0.00 18 9 33.33 NOS3 0 genome.wustl.edu 37 7 150707781 150707783 + In_Frame_Del DEL CTC CTC - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 150707781 150707783 CTC - DEL NOS3 ENST00000297494 human ensembl 74_37 +1 known in_frame_del c.2782_2784 p.L929in_frame_del 1.000:1.000:1.000 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC ENSG00000164867 tier1 26 0 0.00 69 17 19.77 NOTCH1 0 genome.wustl.edu 37 9 139399786 139399789 + Frame_Shift_Del DEL CAGT CAGT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 CAGT CAGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 139399786 139399789 CAGT - DEL NOTCH1 ENST00000277541 human ensembl 74_37 -1 known frame_shift_del c.4562_4559 p.D1520fs 1.000:1.000:1.000:1.000 superfamily_Notch_dom,smart_Notch_dom,pirsf_Notch,pfscan_Notch_dom,prints_Notch_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 tier1 18 0 0.00 21 17 44.74 NOTCH1 0 genome.wustl.edu 37 9 139401189 139401189 + Nonsense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 139401189 139401189 C A SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known nonsense c.3880 p.E1294* 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 tier1 - - 37 0 0.00 13 72 84.71 NPAS2 0 genome.wustl.edu 37 2 101598834 101598834 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 101598834 101598834 G A SNP NPAS2 ENST00000542504 human ensembl 74_37 +1 known missense c.1819 p.V607I 0.062 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors NPAS2 HGNC ENSG00000170485 tier1 - - 24 0 0.00 20 17 45.95 NPHP1 0 genome.wustl.edu 37 2 110882862 110882862 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 110882862 110882862 T - DEL NPHP1 ENST00000417665 human ensembl 74_37 -1 novel frame_shift_del c.1797 p.K599fs 0.000 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NPHP1 HGNC ENSG00000144061 tier1 96 0 0.00 98 61 38.36 NRIP2 0 genome.wustl.edu 37 12 2943918 2943918 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 2943918 2943918 G T SNP NRIP2 ENST00000337508 human ensembl 74_37 -1 known missense c.232 p.H78N 0.994 NULL pfam_Peptidase_aspartic_DDI1-type,superfamily_Peptidase_aspartic_dom - no_errors NRIP2 HGNC ENSG00000053702 tier1 - - 49 0 0.00 74 43 36.75 NRXN3 0 genome.wustl.edu 37 14 79270068 79270068 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 79270068 79270068 G A SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.2144 p.R715Q 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,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 tier1 - - 44 0 0.00 19 72 79.12 NT5DC3 0 genome.wustl.edu 37 12 104187260 104187260 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 104187260 104187260 C T SNP NT5DC3 ENST00000392876 human ensembl 74_37 -1 known missense c.845 p.R282H 0.997 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5DC3 HGNC ENSG00000111696 tier1 rs200566738 - 29 0 0.00 41 12 22.64 NTAN1 0 genome.wustl.edu 37 16 15132457 15132457 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 15132457 15132457 G A SNP NTAN1 ENST00000287706 human ensembl 74_37 -1 known missense c.727 p.H243Y 1.000 NULL NULL - no_errors NTAN1 HGNC ENSG00000157045 tier1 - - 56 0 0.00 56 21 27.27 NTM 0 genome.wustl.edu 37 11 132205624 132205625 + RNA DEL TT TT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 132205624 132205625 TT - DEL NTM ENST00000474900 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.011 - - - no_errors NTM HGNC ENSG00000182667 tier1 23 0 0.00 6 6 50.00 NTM 0 genome.wustl.edu 37 11 132206082 132206083 + RNA INS - - T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 132206082 132206083 - T INS NTM ENST00000474900 human ensembl 74_37 +1 known rna NULL NULL 0.998:0.998 - - - no_errors NTM HGNC ENSG00000182667 tier1 24 0 0.00 20 10 33.33 NTM 0 genome.wustl.edu 37 11 132206566 132206567 + RNA DEL TT TT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 132206566 132206567 TT - DEL NTM ENST00000474900 human ensembl 74_37 +1 known rna NULL NULL 0.131:0.164 - - - no_errors NTM HGNC ENSG00000182667 tier1 13 0 0.00 13 6 31.58 NUDCD3 0 genome.wustl.edu 37 7 44432048 44432048 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 44432048 44432048 C T SNP NUDCD3 ENST00000355451 human ensembl 74_37 -1 known missense c.823 p.A275T 1.000 superfamily_HSP20-like_chaperone,pfscan_CS_dom pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors NUDCD3 HGNC ENSG00000015676 tier1 - - 56 0 0.00 83 30 26.55 NUFIP1 0 genome.wustl.edu 37 13 45556208 45556208 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 13 45556208 45556208 T - DEL NUFIP1 ENST00000379161 human ensembl 74_37 -1 known frame_shift_del c.494 p.K165fs 1.000 NULL pfam_NUFIP1_cons_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors NUFIP1 HGNC ENSG00000083635 tier1 42 0 0.00 47 12 20.34 NUP35 0 genome.wustl.edu 37 2 184023093 184023093 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 184023093 184023093 T - DEL NUP35 ENST00000295119 human ensembl 74_37 +1 known frame_shift_del c.692 p.F232fs 1.000 pfam_RRM_NUP35_dom,pirsf_Nucleoporin_NUP53 pfam_RRM_NUP35_dom,pirsf_Nucleoporin_NUP53 - no_errors NUP35 HGNC ENSG00000163002 tier1 32 0 0.00 77 12 13.48 NUP35 0 genome.wustl.edu 37 2 184025805 184025805 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 184025805 184025805 A - DEL NUP35 ENST00000295119 human ensembl 74_37 +1 known frame_shift_del c.927 p.D312fs 0.996 pirsf_Nucleoporin_NUP53 pfam_RRM_NUP35_dom,pirsf_Nucleoporin_NUP53 - no_errors NUP35 HGNC ENSG00000163002 tier1 19 0 0.00 19 4 17.39 OBSCN 0 genome.wustl.edu 37 1 228496835 228496835 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 228496835 228496835 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.12775 p.V4259M 0.002 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom 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 - - 23 0 0.00 25 7 21.88 OLFML2A 0 genome.wustl.edu 37 9 127563354 127563354 + Splice_Site SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 127563354 127563354 G T SNP OLFML2A ENST00000288815 human ensembl 74_37 +1 known splice_site c.27+1 e1+1 0.000 - - - no_errors OLFML2A HGNC ENSG00000185585 tier1 - - 35 0 0.00 54 4 6.90 OR10A2 0 genome.wustl.edu 37 11 6891852 6891852 + Missense_Mutation SNP C C G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 6891852 6891852 C G SNP OR10A2 ENST00000307322 human ensembl 74_37 +1 known missense c.867 p.S289R 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A2 HGNC ENSG00000170790 tier1 - - 42 0 0.00 39 15 27.78 OR13G1 0 genome.wustl.edu 37 1 247836052 247836052 + Missense_Mutation SNP G G C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 247836052 247836052 G C SNP OR13G1 ENST00000359688 human ensembl 74_37 -1 known missense c.292 p.L98V 0.058 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR13G1 HGNC ENSG00000197437 tier1 - - 34 0 0.00 43 9 17.31 OR2F1 0 genome.wustl.edu 37 7 143657236 143657236 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 143657236 143657236 C T SNP OR2F1 ENST00000392899 human ensembl 74_37 +1 known missense c.173 p.P58L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2F1 HGNC ENSG00000213215 tier1 - - 103 0 0.00 122 77 38.69 OR2J1 0 genome.wustl.edu 37 6 29068729 29068729 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 29068729 29068729 A - DEL OR2J1 ENST00000377171 human ensembl 74_37 +1 known frame_shift_del c.10 p.N6fs 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2J1 HGNC ENSG00000204702 tier1 42 0 0.00 34 7 17.07 OR4A47 0 genome.wustl.edu 37 11 48510904 48510904 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 48510904 48510904 G A SNP OR4A47 ENST00000446524 human ensembl 74_37 +1 known missense c.560 p.C187Y 0.853 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 OR4A47 HGNC ENSG00000237388 tier1 - - 56 0 0.00 59 11 15.71 OR4C46 0 genome.wustl.edu 37 11 51515970 51515970 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 51515970 51515970 C T SNP OR4C46 ENST00000328188 human ensembl 74_37 +1 known missense c.689 p.A230V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C46 HGNC ENSG00000185926 tier1 - - 128 0 0.00 136 18 11.69 OR4D5 0 genome.wustl.edu 37 11 123810341 123810341 + Silent SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 123810341 123810341 T C SNP OR4D5 ENST00000307033 human ensembl 74_37 +1 known silent c.18 p.H6 0.193 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D5 HGNC ENSG00000171014 tier1 - - 66 0 0.00 42 49 53.85 OR52N5 0 genome.wustl.edu 37 11 5799652 5799652 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 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 23 0 0.00 28 6 17.65 OR5P2 0 genome.wustl.edu 37 11 7818170 7818170 + Missense_Mutation SNP T T A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 7818170 7818170 T A SNP OR5P2 ENST00000329434 human ensembl 74_37 -1 known missense c.320 p.E107V 0.999 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 OR5P2 HGNC ENSG00000183303 tier1 - - 40 0 0.00 34 21 38.18 OR5P2 0 genome.wustl.edu 37 11 7818171 7818171 + Nonsense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 7818171 7818171 C A SNP OR5P2 ENST00000329434 human ensembl 74_37 -1 known nonsense c.319 p.E107* 0.921 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 OR5P2 HGNC ENSG00000183303 tier1 - - 38 0 0.00 35 21 37.50 OR7D2 0 genome.wustl.edu 37 19 9296772 9296773 + Frame_Shift_Ins INS - - T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 9296772 9296773 - T INS OR7D2 ENST00000344248 human ensembl 74_37 +1 known frame_shift_ins c.315_316 p.P107fs 0.000:0.000 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 OR7D2 HGNC ENSG00000188000 tier1 84 0 0.00 60 35 36.84 OR8D4 0 genome.wustl.edu 37 11 123777442 123777442 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 123777442 123777442 T - DEL OR8D4 ENST00000321355 human ensembl 74_37 +1 known frame_shift_del c.304 p.F104fs 0.939 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 OR8D4 HGNC ENSG00000181518 tier1 87 0 0.00 85 22 20.56 OR8G1 0 genome.wustl.edu 37 11 124120778 124120778 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 124120778 124120778 C T SNP OR8G1 ENST00000341493 human ensembl 74_37 +1 known missense c.356 p.A119V 1.000 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 OR8G1 HGNC ENSG00000197849 tier1 - - 144 0 0.00 136 41 23.03 OS9 0 genome.wustl.edu 37 12 58112063 58112063 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 58112063 58112063 G A SNP OS9 ENST00000315970 human ensembl 74_37 +1 known silent c.1269 p.E423 0.976 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors OS9 HGNC ENSG00000135506 tier1 - - 20 0 0.00 25 32 56.14 OSGEPL1 0 genome.wustl.edu 37 2 190626331 190626331 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 190626331 190626331 A - DEL OSGEPL1 ENST00000264151 human ensembl 74_37 -1 known frame_shift_del c.36 p.F12fs 0.000 NULL pfam_Gcp-like_dom,prints_KAE1/YgjD,tigrfam_KAE1/YgjD - no_errors OSGEPL1 HGNC ENSG00000128694 tier1 26 0 0.00 16 13 44.83 OTOF 0 genome.wustl.edu 37 2 26684619 26684619 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 26684619 26684619 C T SNP OTOF ENST00000272371 human ensembl 74_37 -1 known silent c.5478 p.A1826 0.713 pfam_C2_dom,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 tier1 - - 31 0 0.00 52 27 34.18 OTOP1 0 genome.wustl.edu 37 4 4198967 4198967 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 4198967 4198967 G A SNP OTOP1 ENST00000296358 human ensembl 74_37 -1 known missense c.1594 p.R532C 0.000 NULL pfam_Otopetrin - no_errors OTOP1 HGNC ENSG00000163982 tier1 rs137867656 - 34 0 0.00 66 4 5.71 PANK2 0 genome.wustl.edu 37 20 3888689 3888689 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 3888689 3888689 C T SNP PANK2 ENST00000316562 human ensembl 74_37 +1 known missense c.745 p.R249W 1.000 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK2 HGNC ENSG00000125779 tier1 - - 27 0 0.00 29 13 30.23 PAPD5 0 genome.wustl.edu 37 16 50263455 50263455 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 50263455 50263455 A - DEL PAPD5 ENST00000573002 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors PAPD5 HGNC ENSG00000121274 tier1 19 0 0.00 21 21 50.00 PAPD7 0 genome.wustl.edu 37 5 6755014 6755014 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 6755014 6755014 C A SNP PAPD7 ENST00000230859 human ensembl 74_37 +1 known missense c.1585 p.H529N 1.000 NULL pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD7 HGNC ENSG00000112941 18 0 0.00 56 8 12.50 PAPPA2 0 genome.wustl.edu 37 1 176526097 176526097 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 176526097 176526097 C T SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known silent c.639 p.S213 0.000 superfamily_ConA-like_lec_gl_sf 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 - - 30 0 0.00 21 11 34.38 PARP3 0 genome.wustl.edu 37 3 51980259 51980259 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 51980259 51980259 C T SNP PARP3 ENST00000398755 human ensembl 74_37 +1 known silent c.1197 p.A399 0.894 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP3 HGNC ENSG00000041880 tier1 - - 16 0 0.00 10 7 41.18 PATL1 0 genome.wustl.edu 37 11 59425146 59425146 + Frame_Shift_Del DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 59425146 59425146 G - DEL PATL1 ENST00000300146 human ensembl 74_37 -1 known frame_shift_del c.478 p.Q160fs 0.999 pfam_Topo_II-assoc_PAT1 pfam_Topo_II-assoc_PAT1 - no_errors PATL1 HGNC ENSG00000166889 tier1 30 0 0.00 28 13 31.71 PAXIP1 0 genome.wustl.edu 37 7 154782740 154782740 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 154782740 154782740 A - DEL PAXIP1 ENST00000397192 human ensembl 74_37 -1 known frame_shift_del c.300 p.F100fs 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PAXIP1 HGNC ENSG00000157212 tier1 29 0 0.00 36 6 14.29 PCDH11X 0 genome.wustl.edu 37 X 91091004 91091004 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 X 91091004 91091004 C T SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known silent c.501 p.D167 0.250 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 tier1 - - 38 0 0.00 9 36 80.00 PCDH17 0 genome.wustl.edu 37 13 58206843 58206843 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 13 58206843 58206843 G A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.163 p.G55S 0.986 pfam_Cadherin_N,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 - - 14 0 0.00 2 6 75.00 PCDH20 0 genome.wustl.edu 37 13 61986976 61986976 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 13 61986976 61986976 A G SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known missense c.1256 p.V419A 0.996 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 tier1 - - 25 0 0.00 12 9 42.86 PCDHA13 0 genome.wustl.edu 37 5 140262129 140262129 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 140262129 140262129 C T SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known silent c.276 p.R92 0.551 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 PCDHA13 HGNC ENSG00000239389 tier1 - - 58 0 0.00 63 61 48.80 PCDHA2 0 genome.wustl.edu 37 5 140176199 140176199 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 140176199 140176199 G A SNP PCDHA2 ENST00000526136 human ensembl 74_37 +1 known silent c.1650 p.T550 0.518 pfam_Cadherin,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 PCDHA2 HGNC ENSG00000204969 tier1 - - 98 0 0.00 139 63 31.19 PCDHB15 0 genome.wustl.edu 37 5 140626827 140626827 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 140626827 140626827 G A SNP PCDHB15 ENST00000231173 human ensembl 74_37 +1 known missense c.1681 p.V561M 0.655 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB15 HGNC ENSG00000113248 tier1 - - 91 0 0.00 53 122 69.32 PCDHB16 0 genome.wustl.edu 37 5 140563150 140563150 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 140563150 140563150 A G SNP PCDHB16 ENST00000361016 human ensembl 74_37 +1 known missense c.1016 p.D339G 0.999 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 PCDHB16 HGNC ENSG00000196963 tier1 - - 28 0 0.00 26 9 25.71 PCDHB16 0 genome.wustl.edu 37 5 140563850 140563850 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 140563850 140563850 C T SNP PCDHB16 ENST00000361016 human ensembl 74_37 +1 known silent c.1716 p.C572 0.966 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 tier1 - - 43 0 0.00 138 43 23.76 PCDHB3 0 genome.wustl.edu 37 5 140480982 140480982 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 140480982 140480982 C T SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.749 p.A250V 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 tier1 - - 22 0 0.00 5 18 78.26 PCDHGB2 0 genome.wustl.edu 37 5 140741195 140741195 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 140741195 140741195 C T SNP PCDHGB2 ENST00000522605 human ensembl 74_37 +1 known missense c.1493 p.P498L 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 PCDHGB2 HGNC ENSG00000253910 tier1 - - 43 0 0.00 12 42 77.78 PCDHGB4 0 genome.wustl.edu 37 5 140768214 140768214 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 140768214 140768214 G A SNP PCDHGB4 ENST00000519479 human ensembl 74_37 +1 known missense c.763 p.V255M 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB4 HGNC ENSG00000253953 tier1 - - 21 0 0.00 40 16 28.57 PCGF6 0 genome.wustl.edu 37 10 105063538 105063538 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 105063538 105063538 A - DEL PCGF6 ENST00000490296 human ensembl 74_37 -1 known rna NULL NULL 0.070 - - - no_errors PCGF6 HGNC ENSG00000156374 tier1 49 0 0.00 38 17 30.91 PCNP 0 genome.wustl.edu 37 3 101311692 101311692 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 101311692 101311692 T - DEL PCNP ENST00000486406 human ensembl 74_37 +1 known rna NULL NULL 0.864 - - - no_errors PCNP HGNC ENSG00000081154 tier1 28 0 0.00 27 8 22.86 PCNT 0 genome.wustl.edu 37 21 47858171 47858173 + In_Frame_Del DEL AGA AGA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 21 47858171 47858173 AGA - DEL PCNT ENST00000359568 human ensembl 74_37 +1 known in_frame_del c.9194_9196 p.K3066in_frame_del 1.000:1.000:1.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 tier1 29 0 0.00 18 26 59.09 PDE4D 0 genome.wustl.edu 37 5 58271490 58271490 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 58271490 58271490 T - DEL PDE4D ENST00000340635 human ensembl 74_37 -1 known frame_shift_del c.2007 p.K669fs 1.000 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,prints_PDEase - no_errors PDE4D HGNC ENSG00000113448 tier1 49 0 0.00 19 31 62.00 PDE5A 0 genome.wustl.edu 37 4 120484001 120484001 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 120484001 120484001 T C SNP PDE5A ENST00000354960 human ensembl 74_37 -1 known missense c.1118 p.D373G 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE5A HGNC ENSG00000138735 tier1 - - 56 0 0.00 41 11 21.15 PDE9A 0 genome.wustl.edu 37 21 44195538 44195540 + RNA DEL AAA AAA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 21 44195538 44195540 AAA - DEL PDE9A ENST00000460989 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors PDE9A HGNC ENSG00000160191 tier1 15 0 0.00 5 7 58.33 PDIA5 0 genome.wustl.edu 37 3 122880331 122880332 + RNA INS - - CT TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 122880331 122880332 - CT INS PDIA5 ENST00000467157 human ensembl 74_37 +1 known rna NULL NULL 0.005:0.036 - - - no_errors PDIA5 HGNC ENSG00000065485 tier1 23 0 0.00 16 5 23.81 PDLIM7 0 genome.wustl.edu 37 5 176910724 176910724 + Missense_Mutation SNP T T G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 176910724 176910724 T G SNP PDLIM7 ENST00000355841 human ensembl 74_37 -1 known missense c.1295 p.Q432P 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM7 HGNC ENSG00000196923 tier1 - - 30 0 0.00 9 46 83.64 PDX1 0 genome.wustl.edu 37 13 28498619 28498619 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 13 28498619 28498619 C T SNP PDX1 ENST00000381033 human ensembl 74_37 +1 known silent c.633 p.G211 0.994 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors PDX1 HGNC ENSG00000139515 12 0 0.00 30 5 14.29 PDZD2 0 genome.wustl.edu 37 5 32087827 32087827 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 32087827 32087827 A G SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.4273 p.T1425A 0.993 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 tier1 - - 30 0 0.00 89 18 16.82 PER1 0 genome.wustl.edu 37 17 8053368 8053368 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 8053368 8053368 C T SNP PER1 ENST00000317276 human ensembl 74_37 -1 known silent c.450 p.P150 0.898 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER1 HGNC ENSG00000179094 19 0 0.00 31 4 10.81 PER3 0 genome.wustl.edu 37 1 7846785 7846785 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 7846785 7846785 C T SNP PER3 ENST00000361923 human ensembl 74_37 +1 known silent c.279 p.N93 1.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 tier1 - - 51 0 0.00 48 14 22.58 PGM5 0 genome.wustl.edu 37 9 71094403 71094403 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 71094403 71094403 G A SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known missense c.1229 p.R410Q 1.000 pfam_A-D-PHexomutase_a/b/a-III,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 tier1 - - 44 0 0.00 13 47 78.33 PHACTR1 0 genome.wustl.edu 37 6 13278490 13278490 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 13278490 13278490 T - DEL PHACTR1 ENST00000481706 human ensembl 74_37 +1 known rna NULL NULL 0.709 - - - no_errors PHACTR1 HGNC ENSG00000112137 tier1 25 0 0.00 19 16 45.71 PHF1 0 genome.wustl.edu 37 6 33382566 33382566 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 33382566 33382566 C - DEL PHF1 ENST00000374516 human ensembl 74_37 +1 known frame_shift_del c.1009 p.P338fs 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF1 HGNC ENSG00000112511 tier1 24 0 0.00 20 6 23.08 PHF12 0 genome.wustl.edu 37 17 27234682 27234682 + Missense_Mutation SNP T T A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 27234682 27234682 T A SNP PHF12 ENST00000332830 human ensembl 74_37 -1 known missense c.2467 p.M823L 1.000 superfamily_SMAD_FHA_domain,pfscan_FHA_dom pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC ENSG00000109118 tier1 - - 36 0 0.00 46 34 42.50 PHF21B 0 genome.wustl.edu 37 22 45312251 45312251 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 22 45312251 45312251 C T SNP PHF21B ENST00000313237 human ensembl 74_37 -1 known missense c.473 p.S158N 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21B HGNC ENSG00000056487 tier1 - - 25 0 0.00 30 13 30.23 PHLDB1 0 genome.wustl.edu 37 11 118499019 118499019 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 118499019 118499019 C T SNP PHLDB1 ENST00000361417 human ensembl 74_37 +1 known missense c.1480 p.R494C 1.000 NULL pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC ENSG00000019144 tier1 - - 21 0 0.00 21 21 50.00 PHTF2 0 genome.wustl.edu 37 7 77569845 77569845 + Nonsense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 77569845 77569845 C T SNP PHTF2 ENST00000248550 human ensembl 74_37 +1 known nonsense c.1741 p.R581* 1.000 NULL pfam_TF_homeodomain_male - no_errors PHTF2 HGNC ENSG00000006576 tier1 - - 41 0 0.00 43 11 20.37 PI4KA 0 genome.wustl.edu 37 22 21147531 21147531 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 22 21147531 21147531 C T SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known missense c.2278 p.A760T 1.000 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 - - 22 0 0.00 19 6 24.00 PIBF1 0 genome.wustl.edu 37 13 73505320 73505320 + Missense_Mutation SNP G G C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 13 73505320 73505320 G C SNP PIBF1 ENST00000326291 human ensembl 74_37 +1 known missense c.1748 p.R583T 1.000 NULL superfamily_t-SNARE - no_errors PIBF1 HGNC ENSG00000083535 tier1 - - 18 0 0.00 7 7 50.00 PIEZO2 0 genome.wustl.edu 37 18 10699097 10699097 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 18 10699097 10699097 C T SNP PIEZO2 ENST00000538948 human ensembl 74_37 -1 known missense c.52 p.G18S 0.000 NULL pfam_Piezo - no_errors PIEZO2 HGNC ENSG00000154864 tier1 - - 28 0 0.00 22 15 40.54 PIK3CA 0 genome.wustl.edu 37 3 178921458 178921458 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 178921458 178921458 G T SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.940 p.A314S 1.000 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 48 0 0.00 92 5 5.15 PIK3R3 0 genome.wustl.edu 37 1 46508950 46508951 + RNA INS - - A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 46508950 46508951 - A INS PIK3R3 ENST00000488808 human ensembl 74_37 -1 known rna NULL NULL 0.006:0.000 - - - no_errors PIK3R3 HGNC ENSG00000117461 tier1 18 0 0.00 11 7 38.89 PILRB 0 genome.wustl.edu 37 7 99956488 99956490 + In_Frame_Del DEL CTT CTT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 99956488 99956490 CTT - DEL PILRB ENST00000444073 human ensembl 74_37 +1 known in_frame_del c.240_242 p.F81in_frame_del 0.108:0.107:0.153 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors PILRB HGNC ENSG00000121716 tier1 57 0 0.00 72 17 19.10 PINK1 0 genome.wustl.edu 37 1 20977076 20977076 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 20977076 20977076 G T SNP PINK1 ENST00000321556 human ensembl 74_37 +1 known missense c.1638 p.E546D 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 PINK1 HGNC ENSG00000158828 tier1 - - 26 0 0.00 11 21 65.62 PIP4K2A 0 genome.wustl.edu 37 10 22830827 22830828 + Frame_Shift_Ins INS - - G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 22830827 22830828 - G INS PIP4K2A ENST00000376573 human ensembl 74_37 -1 known frame_shift_ins c.942_941 p.D315fs 0.026:1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP4K2A HGNC ENSG00000150867 tier1 13 0 0.00 7 15 68.18 PIR 0 genome.wustl.edu 37 X 15408207 15408208 + RNA INS - - A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 X 15408207 15408208 - A INS PIR ENST00000484433 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.001 - - - no_errors PIR HGNC ENSG00000087842 tier1 12 0 0.00 10 9 47.37 PIWIL2 0 genome.wustl.edu 37 8 22211817 22211817 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 22211817 22211817 G A SNP PIWIL2 ENST00000356766 human ensembl 74_37 +1 known silent c.2691 p.R897 0.937 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL2 HGNC ENSG00000197181 tier1 - - 64 0 0.00 16 35 68.63 PKD1L1 0 genome.wustl.edu 37 7 47925456 47925456 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 47925456 47925456 C A SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known missense c.3033 p.E1011D 0.000 pfam_PKD/REJ-like,pfscan_REJ-like 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 - - 19 0 0.00 53 23 30.26 PKD1P6 0 genome.wustl.edu 37 16 15225202 15225202 + RNA SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 15225202 15225202 A G SNP PKD1P6 ENST00000424133 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PKD1P6 HGNC ENSG00000250251 tier1 - - 87 0 0.00 57 66 53.66 PKDREJ 0 genome.wustl.edu 37 22 46655330 46655330 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 22 46655330 46655330 C T SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known missense c.3890 p.R1297H 0.031 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 tier1 - - 57 0 0.00 33 22 40.00 PKN3 0 genome.wustl.edu 37 9 131482844 131482844 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 131482844 131482844 C T SNP PKN3 ENST00000291906 human ensembl 74_37 +1 known missense c.2629 p.R877W 0.997 pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_AGC-kinase_C pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN3 HGNC ENSG00000160447 tier1 - - 24 0 0.00 19 44 69.84 PLCB4 0 genome.wustl.edu 37 20 9460657 9460658 + RNA INS - - TA TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 9460657 9460658 - TA INS PLCB4 ENST00000464199 human ensembl 74_37 +1 known rna NULL NULL 0.024:0.089 - - - no_errors PLCB4 HGNC ENSG00000101333 tier1 17 0 0.00 20 9 31.03 PLD2 0 genome.wustl.edu 37 17 4711646 4711646 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 4711646 4711646 T - DEL PLD2 ENST00000263088 human ensembl 74_37 +1 known frame_shift_del c.318 p.Q108fs 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pirsf_PLipase_D_euk,pfscan_Phox pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD2 HGNC ENSG00000129219 tier1 22 0 0.00 47 17 26.56 PLEC 0 genome.wustl.edu 37 8 145008493 145008493 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 145008493 145008493 A G SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.1573 p.F525L 1.000 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 tier1 - - 40 0 0.00 113 51 31.10 PLEKHG4 0 genome.wustl.edu 37 16 67320198 67320198 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 67320198 67320198 G A SNP PLEKHG4 ENST00000360461 human ensembl 74_37 +1 known missense c.2464 p.A822T 0.997 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4 HGNC ENSG00000196155 tier1 - - 70 0 0.00 74 99 57.23 PLEKHG4B 0 genome.wustl.edu 37 5 156905 156905 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 156905 156905 C T SNP PLEKHG4B ENST00000283426 human ensembl 74_37 +1 known missense c.1298 p.A433V 0.023 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4B HGNC ENSG00000153404 tier1 - - 19 0 0.00 93 21 18.26 PLEKHG4B 0 genome.wustl.edu 37 5 171525 171525 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 171525 171525 A G SNP PLEKHG4B ENST00000283426 human ensembl 74_37 +1 known missense c.2948 p.D983G 1.000 superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4B HGNC ENSG00000153404 tier1 - - 12 0 0.00 63 20 23.81 PLSCR1 0 genome.wustl.edu 37 3 146239638 146239640 + In_Frame_Del DEL ACA ACA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 ACA ACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 146239638 146239640 ACA - DEL PLSCR1 ENST00000342435 human ensembl 74_37 -1 known in_frame_del c.558_556 p.C186in_frame_del 0.786:0.008:0.108 pfam_Scramblase pfam_Scramblase,superfamily_Tubby_C-like - no_errors PLSCR1 HGNC ENSG00000188313 tier1 35 0 0.00 73 11 13.10 PLXNB1 0 genome.wustl.edu 37 3 48465484 48465485 + Frame_Shift_Ins INS - - C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 48465484 48465485 0 C INS PLXNB1 ENST00000296440 human ensembl 74_37 -1 known frame_shift_ins c.537_536 p.G180fs 0.987:1.000 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 11 0 0.00 8 4 33.33 PLXNB3 0 genome.wustl.edu 37 X 153044130 153044130 + Splice_Site SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 X 153044130 153044130 G A SNP PLXNB3 ENST00000538966 human ensembl 74_37 +1 known splice_site c.5694+1 e34+1 1.000 - - - no_errors PLXNB3 HGNC ENSG00000198753 tier1 - - 18 0 0.00 5 23 82.14 PML 0 genome.wustl.edu 37 15 74335396 74335396 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 15 74335396 74335396 C A SNP PML ENST00000268058 human ensembl 74_37 +1 known missense c.1777 p.L593I 0.014 NULL pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 tier1 - - 19 0 0.00 18 21 53.85 PNKD 0 genome.wustl.edu 37 2 219135295 219135296 + Frame_Shift_Ins INS - - G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 219135295 219135296 - G INS PNKD ENST00000273077 human ensembl 74_37 +1 known frame_shift_ins c.37_38 p.A15fs 1.000:1.000 NULL pfam_Beta-lactamas-like,smart_Beta-lactamas-like,tigrfam_Hydroxyacylglutathione_Hdrlase - no_errors PNKD HGNC ENSG00000127838 tier1 10 0 0.00 27 9 25.00 POGK 0 genome.wustl.edu 37 1 166818617 166818617 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 166818617 166818617 C T SNP POGK ENST00000367875 human ensembl 74_37 +1 known silent c.801 p.A267 0.361 pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom pfam_DDE_SF_endonuclease_CENPB-like,pfam_Brinker_DNA-bd,pfam_HTH_CenpB_DNA-bd_dom,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Homeodomain-like,smart_Krueppel-associated_box,smart_HTH_CenpB_DNA-bd_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors POGK HGNC ENSG00000143157 tier1 - - 15 0 0.00 25 7 21.88 POLR1C 0 genome.wustl.edu 37 6 43488100 43488102 + In_Frame_Del DEL TCC TCC - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 43488100 43488102 TCC - DEL POLR1C ENST00000372389 human ensembl 74_37 +1 known in_frame_del c.590_592 p.L198in_frame_del 1.000:1.000:1.000 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 36 0 0.00 28 7 20.00 POLRMT 0 genome.wustl.edu 37 19 621120 621120 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 621120 621120 G A SNP POLRMT ENST00000588649 human ensembl 74_37 -1 known missense c.2578 p.R860C 0.981 pfam_DNA-dir_Rpol_phage-type pfam_DNA-dir_Rpol_phage-type - no_errors POLRMT HGNC ENSG00000099821 tier1 - - 36 0 0.00 57 41 41.41 POMGNT1 0 genome.wustl.edu 37 1 46659217 46659217 + RNA DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 46659217 46659217 C - DEL POMGNT1 ENST00000477114 human ensembl 74_37 -1 known rna NULL NULL 0.015 - - - no_errors POMGNT1 HGNC ENSG00000085998 tier1 16 0 0.00 26 6 18.75 POMP 0 genome.wustl.edu 37 13 29238658 29238658 + Silent SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 13 29238658 29238658 G T SNP POMP ENST00000380842 human ensembl 74_37 +1 known silent c.114 p.V38 1.000 pfam_UMP1 pfam_UMP1 - no_errors POMP HGNC ENSG00000132963 tier1 - - 31 0 0.00 26 19 42.22 POR 0 genome.wustl.edu 37 7 75609955 75609955 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 75609955 75609955 C - DEL POR ENST00000450476 human ensembl 74_37 +1 known frame_shift_del c.128 p.P44fs 0.424 pfscan_Flavodoxin/NO_synth pfam_FAD-binding_1,pfam_OxRdtase_FAD/NAD-bd,pfam_Flavodoxin/NO_synth,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors POR HGNC ENSG00000127948 tier1 24 0 0.00 23 10 30.30 POTEM 0 genome.wustl.edu 37 14 20002279 20002279 + Silent SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 20002279 20002279 C A SNP POTEM ENST00000547848 human ensembl 74_37 -1 known silent c.1143 p.L381 0.041 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 POTEM HGNC ENSG00000187537 tier1 - - 80 0 0.00 148 40 21.28 POU2F1 0 genome.wustl.edu 37 1 167385179 167385180 + RNA DEL AA AA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 167385179 167385180 AA - DEL POU2F1 ENST00000367865 human ensembl 74_37 +1 known rna NULL NULL 0.090:0.002 - - - no_errors POU2F1 HGNC ENSG00000143190 tier1 40 0 0.00 46 10 17.86 POU3F2 0 genome.wustl.edu 37 6 99283509 99283509 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 99283509 99283509 G A SNP POU3F2 ENST00000328345 human ensembl 74_37 +1 known missense c.760 p.A254T 0.963 pirsf_Transcription_factor_POU pirsf_Transcription_factor_POU,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 POU3F2 HGNC ENSG00000184486 21 0 0.00 19 12 38.71 POU3F4 0 genome.wustl.edu 37 X 82763400 82763400 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 X 82763400 82763400 C T SNP POU3F4 ENST00000373200 human ensembl 74_37 +1 known missense c.68 p.A23V 0.998 pirsf_Transcription_factor_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F4 HGNC ENSG00000196767 tier1 - - 22 0 0.00 23 24 51.06 POU5F2 0 genome.wustl.edu 37 5 93076993 93076993 + Nonsense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 93076993 93076993 G A SNP POU5F2 ENST00000510627 human ensembl 74_37 -1 known nonsense c.277 p.R93* 0.002 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 - no_errors POU5F2 HGNC ENSG00000248483 tier1 - - 22 0 0.00 7 21 75.00 PPFIA2 0 genome.wustl.edu 37 12 81671195 81671195 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 81671195 81671195 T - DEL PPFIA2 ENST00000333447 human ensembl 74_37 -1 known frame_shift_del c.3175 p.R1059fs 1.000 superfamily_SAM/pointed,smart_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_tRNA-bd_arm,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 tier1 27 0 0.00 19 5 20.83 PPFIA4 0 genome.wustl.edu 37 1 203008166 203008166 + Frame_Shift_Del DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 203008166 203008166 G - DEL PPFIA4 ENST00000367240 human ensembl 74_37 +1 novel frame_shift_del c.30 p.D12fs 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_Prefoldin,smart_SAM,pfscan_SAM - no_errors PPFIA4 HGNC ENSG00000143847 tier1 21 0 0.00 29 10 25.64 PPM1F 0 genome.wustl.edu 37 22 22287853 22287853 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 22 22287853 22287853 G A SNP PPM1F ENST00000263212 human ensembl 74_37 -1 known silent c.657 p.R219 0.093 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 PPM1F HGNC ENSG00000100034 tier1 - - 21 0 0.00 25 23 47.92 PPP1R12B 0 genome.wustl.edu 37 1 202407190 202407190 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 202407190 202407190 T 0 DEL PPP1R12B ENST00000480184 human ensembl 74_37 +1 novel frame_shift_del c.1496 p.F502fs 0.041 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 PPP1R12B HGNC ENSG00000077157 17 0 0.00 8 5 38.46 PPP1R21 0 genome.wustl.edu 37 2 48686995 48686995 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 48686995 48686995 G A SNP PPP1R21 ENST00000294952 human ensembl 74_37 +1 known missense c.478 p.G160S 1.000 NULL pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin-like_SF - no_errors PPP1R21 HGNC ENSG00000162869 tier1 rs142054593 - 25 0 0.00 55 10 15.38 PRAM1 0 genome.wustl.edu 37 19 8563644 8563644 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 8563644 8563644 G A SNP PRAM1 ENST00000423345 human ensembl 74_37 -1 known missense c.1048 p.R350C 0.000 NULL superfamily_SH3_domain - no_errors PRAM1 HGNC ENSG00000133246 tier1 - - 46 0 0.00 47 24 33.80 PRDM1 0 genome.wustl.edu 37 6 106553730 106553730 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 106553730 106553730 G A SNP PRDM1 ENST00000369096 human ensembl 74_37 +1 known silent c.1695 p.P565 0.157 pirsf_Znf_PRDM1 pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM1 HGNC ENSG00000057657 tier1 - - 15 0 0.00 17 9 33.33 PRDM10 0 genome.wustl.edu 37 11 129812346 129812346 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 129812346 129812346 T - DEL PRDM10 ENST00000358825 human ensembl 74_37 -1 known frame_shift_del c.941 p.N314fs 0.999 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM10 HGNC ENSG00000170325 tier1 61 0 0.00 48 32 40.00 PRG2 0 genome.wustl.edu 37 11 57155247 57155247 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 57155247 57155247 C T SNP PRG2 ENST00000311862 human ensembl 74_37 -1 known missense c.590 p.C197Y 0.955 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_Eosinophil_major_basic pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_Eosinophil_major_basic - no_errors PRG2 HGNC ENSG00000186652 57 0 0.00 70 6 7.89 PRICKLE2-AS3 0 genome.wustl.edu 37 3 64184686 64184686 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 64184686 64184686 T - DEL PRICKLE2-AS3 ENST00000473434 human ensembl 74_37 +1 known rna NULL NULL 0.222 - - - no_errors PRICKLE2-AS3 HGNC ENSG00000226017 tier1 9 0 0.00 9 4 30.77 PRKACA 0 genome.wustl.edu 37 19 14208488 14208488 + Splice_Site SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 14208488 14208488 T C SNP PRKACA ENST00000308677 human ensembl 74_37 -1 known splice_site c.547-2 e7-2 1.000 - - - no_errors PRKACA HGNC ENSG00000072062 tier1 - - 32 0 0.00 38 26 40.62 PRKCI 0 genome.wustl.edu 37 3 169988209 169988209 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 169988209 169988209 C T SNP PRKCI ENST00000295797 human ensembl 74_37 +1 known missense c.451 p.R151C 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_DAG/PE-bd 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 PRKCI HGNC ENSG00000163558 tier1 - - 21 0 0.00 26 11 29.73 PRKDC 0 genome.wustl.edu 37 8 48805866 48805866 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 48805866 48805866 C - DEL PRKDC ENST00000314191 human ensembl 74_37 -1 known frame_shift_del c.3680 p.G1227fs 0.938 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 tier1 51 0 0.00 186 45 19.48 PRNP 0 genome.wustl.edu 37 20 4679939 4679939 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 4679939 4679939 C T SNP PRNP ENST00000379440 human ensembl 74_37 +1 known missense c.73 p.R25C 0.998 pfam_Prion_N_dom,smart_Prion pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Prion_N_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion,prints_Prion - no_errors PRNP HGNC ENSG00000171867 tier1 - - 19 0 0.00 43 11 20.37 PRR11 0 genome.wustl.edu 37 17 57247171 57247171 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 57247171 57247171 A - DEL PRR11 ENST00000262293 human ensembl 74_37 +1 known frame_shift_del c.58 p.E23fs 0.749 NULL NULL - no_errors PRR11 HGNC ENSG00000068489 tier1 22 0 0.00 9 19 67.86 PRR5L 0 genome.wustl.edu 37 11 36485195 36485196 + RNA DEL AA AA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 36485195 36485196 AA - DEL PRR5L ENST00000389693 human ensembl 74_37 +1 known rna NULL NULL 0.022:0.017 - - - no_errors PRR5L HGNC ENSG00000135362 tier1 16 0 0.00 7 11 61.11 PRRC2B 0 genome.wustl.edu 37 9 134350640 134350640 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 134350640 134350640 C - DEL PRRC2B ENST00000357304 human ensembl 74_37 +1 known frame_shift_del c.3124 p.M1044fs 0.992 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 tier1 14 0 0.00 6 10 62.50 PRRC2B 0 genome.wustl.edu 37 9 134351550 134351551 + Frame_Shift_Del DEL TG TG - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 134351550 134351551 TG - DEL PRRC2B ENST00000357304 human ensembl 74_37 +1 known frame_shift_del c.4034_4035 p.C1346fs 0.295:0.237 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 tier1 19 0 0.00 34 5 12.82 PRSS36 0 genome.wustl.edu 37 16 31150582 31150582 + Silent SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 31150582 31150582 G T SNP PRSS36 ENST00000268281 human ensembl 74_37 -1 known silent c.2445 p.P815 0.000 pirsf_Pept_S1A_polyserase-2 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 - - 20 0 0.00 29 10 25.64 PRSS36 0 genome.wustl.edu 37 16 31151942 31151942 + Frame_Shift_Del DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 31151942 31151942 G - DEL PRSS36 ENST00000268281 human ensembl 74_37 -1 known frame_shift_del c.2038 p.L680fs 0.448 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 16 0 0.00 19 5 20.83 PRTG 0 genome.wustl.edu 37 15 55965576 55965576 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 15 55965576 55965576 G A SNP PRTG ENST00000389286 human ensembl 74_37 -1 known silent c.1845 p.S615 0.935 pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors PRTG HGNC ENSG00000166450 tier1 - - 24 0 0.00 19 18 48.65 PSIP1 0 genome.wustl.edu 37 9 15472612 15472612 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 15472612 15472612 A - DEL PSIP1 ENST00000495873 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PSIP1 HGNC ENSG00000164985 tier1 28 0 0.00 15 32 68.09 PSMD1 0 genome.wustl.edu 37 2 231931656 231931656 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 231931656 231931656 A G SNP PSMD1 ENST00000308696 human ensembl 74_37 +1 known missense c.341 p.E114G 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 - - 24 0 0.00 17 8 32.00 PSMD12 0 genome.wustl.edu 37 17 65337163 65337163 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 65337163 65337163 G A SNP PSMD12 ENST00000356126 human ensembl 74_37 -1 known silent c.1167 p.S389 0.976 pfam_PCI_dom,smart_PCI_dom pfam_PCI_dom,smart_PCI_dom - no_errors PSMD12 HGNC ENSG00000197170 tier1 - - 31 0 0.00 19 9 32.14 PSME2 0 genome.wustl.edu 37 14 24615778 24615778 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 24615778 24615778 A G SNP PSME2 ENST00000216802 human ensembl 74_37 -1 known missense c.13 p.C5R 0.991 NULL pfam_Proteasome_activ_pa28_C,pfam_Proteasome_activ_pa28_N,superfamily_Proteasome_activ_pa28 - no_errors PSME2 HGNC ENSG00000100911 26 0 0.00 40 3 6.98 PSPH 0 genome.wustl.edu 37 7 56079283 56079283 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 56079283 56079283 A - DEL PSPH ENST00000459834 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PSPH HGNC ENSG00000146733 tier1 8 0 0.00 7 7 50.00 PTCH1 0 genome.wustl.edu 37 9 98211549 98211549 + Frame_Shift_Del DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 98211549 98211549 G - DEL PTCH1 ENST00000331920 human ensembl 74_37 -1 known frame_shift_del c.3606 p.S1203fs 0.012 tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 tier1 44 0 0.00 43 10 18.87 PTGDS 0 genome.wustl.edu 37 9 139873716 139873716 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 139873716 139873716 C T SNP PTGDS ENST00000224167 human ensembl 74_37 +1 known missense c.296 p.A99V 0.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth - no_errors PTGDS HGNC ENSG00000107317 tier1 - - 44 0 0.00 58 37 38.95 PTHLH 0 genome.wustl.edu 37 12 28114898 28114898 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 28114898 28114898 T - DEL PTHLH ENST00000354417 human ensembl 74_37 -1 known frame_shift_del c.557 p.K186fs 0.135 NULL pfam_PTH/PTH-rel,smart_PTH/PTH-rel - no_errors PTHLH HGNC ENSG00000087494 tier1 22 0 0.00 18 9 33.33 PTPRF 0 genome.wustl.edu 37 1 44054632 44054632 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 44054632 44054632 C T SNP PTPRF ENST00000359947 human ensembl 74_37 +1 known silent c.910 p.L304 0.991 pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 PTPRF HGNC ENSG00000142949 tier1 - - 40 0 0.00 72 24 25.00 PTPRU 0 genome.wustl.edu 37 1 29641996 29641996 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 29641996 29641996 C A SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known missense c.3370 p.R1124S 0.998 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 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 - - 48 0 0.00 18 40 68.97 PVRL1 0 genome.wustl.edu 37 11 119535677 119535678 + In_Frame_Ins INS - - CCT TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 119535677 119535678 - CCT INS PVRL1 ENST00000264025 human ensembl 74_37 -1 known in_frame_ins c.1334_1333 p.445in_frame_insE 0.902:0.989 NULL 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 17 0 0.00 34 7 17.07 PYCR2 0 genome.wustl.edu 37 1 226111805 226111805 + Missense_Mutation SNP G G C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 226111805 226111805 G C SNP PYCR2 ENST00000343818 human ensembl 74_37 -1 known missense c.6 p.S2R 1.000 pirsf_Pyrroline-COOH_reductase superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase - no_errors PYCR2 HGNC ENSG00000143811 tier1 - - 8 0 0.00 10 6 37.50 RAB12 0 genome.wustl.edu 37 18 8636357 8636358 + Splice_Site INS - - A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 18 8636357 8636358 - A INS RAB12 ENST00000329286 human ensembl 74_37 +1 known splice_site_ins c.621+2_621+1 e5+2 1.000:0.962 - - - no_errors RAB12 HGNC ENSG00000206418 tier1 19 0 0.00 15 12 44.44 RAB13 0 genome.wustl.edu 37 1 153955602 153955602 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 153955602 153955602 A - DEL RAB13 ENST00000462680 human ensembl 74_37 -1 known rna NULL NULL 0.029 - - - no_errors RAB13 HGNC ENSG00000143545 tier1 11 0 0.00 16 5 23.81 RAB25 0 genome.wustl.edu 37 1 156035905 156035905 + RNA SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 156035905 156035905 C T SNP RAB25 ENST00000463614 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RAB25 HGNC ENSG00000132698 tier1 - - 38 0 0.00 24 22 47.83 RAB2B 0 genome.wustl.edu 37 14 21936607 21936607 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 21936607 21936607 G A SNP RAB2B ENST00000397762 human ensembl 74_37 -1 known missense c.271 p.R91C 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,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_Gtr1_RagA,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 RAB2B HGNC ENSG00000129472 tier1 - - 25 0 0.00 27 24 47.06 RAB3GAP2 0 genome.wustl.edu 37 1 220327392 220327392 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 220327392 220327392 T - DEL RAB3GAP2 ENST00000358951 human ensembl 74_37 -1 known frame_shift_del c.3563 p.N1188fs 1.000 NULL superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC ENSG00000118873 tier1 35 0 0.00 37 13 26.00 RALY 0 genome.wustl.edu 37 20 32660107 32660107 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 32660107 32660107 A G SNP RALY ENST00000246194 human ensembl 74_37 +1 known missense c.227 p.N76S 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 RALY HGNC ENSG00000125970 tier1 - - 16 0 0.00 45 11 19.64 RALYL 0 genome.wustl.edu 37 8 85774569 85774569 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 85774569 85774569 G A SNP RALYL ENST00000521268 human ensembl 74_37 +1 known missense c.452 p.R151H 0.995 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALYL HGNC ENSG00000184672 tier1 - - 34 0 0.00 53 28 34.57 RAPGEF2 0 genome.wustl.edu 37 4 160260486 160260486 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 160260486 160260486 C T SNP RAPGEF2 ENST00000264431 human ensembl 74_37 +1 known silent c.2031 p.D677 0.969 pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-assoc,pfscan_Ras-assoc pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF2 HGNC ENSG00000109756 tier1 - - 34 0 0.00 21 7 25.00 RAPGEF4 0 genome.wustl.edu 37 2 173679337 173679337 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 173679337 173679337 T - DEL RAPGEF4 ENST00000464976 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RAPGEF4 HGNC ENSG00000091428 tier1 59 0 0.00 77 33 30.00 RARRES3 0 genome.wustl.edu 37 11 63313709 63313709 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 63313709 63313709 A - DEL RARRES3 ENST00000255688 human ensembl 74_37 +1 known frame_shift_del c.476 p.A162fs 0.001 NULL pfam_LRAT-like_dom - no_errors RARRES3 HGNC ENSG00000133321 tier1 46 0 0.00 46 31 40.26 RASSF5 0 genome.wustl.edu 37 1 206762574 206762574 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 206762574 206762574 A - DEL RASSF5 ENST00000481486 human ensembl 74_37 +1 putative rna NULL NULL 0.036 - - - no_errors RASSF5 HGNC ENSG00000136653 tier1 64 0 0.00 47 15 24.19 RBM12B 0 genome.wustl.edu 37 8 94746149 94746149 + Silent SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 94746149 94746149 G T SNP RBM12B ENST00000399300 human ensembl 74_37 -1 known silent c.2490 p.P830 0.971 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12B HGNC ENSG00000183808 tier1 - - 38 0 0.00 49 38 43.68 RBMS1 0 genome.wustl.edu 37 2 161130971 161130971 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 161130971 161130971 T - DEL RBMS1 ENST00000474820 human ensembl 74_37 -1 known rna NULL NULL 0.068 - - - no_errors RBMS1 HGNC ENSG00000153250 tier1 20 0 0.00 21 5 19.23 RBP3 0 genome.wustl.edu 37 10 48390416 48390416 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 48390416 48390416 G A SNP RBP3 ENST00000224600 human ensembl 74_37 -1 known silent c.462 p.H154 0.000 pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 tier1 - - 21 0 0.00 29 7 19.44 RBPJL 0 genome.wustl.edu 37 20 43945485 43945485 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 43945485 43945485 C A SNP RBPJL ENST00000343694 human ensembl 74_37 +1 known missense c.1440 p.S480R 0.665 NULL pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJL HGNC ENSG00000124232 tier1 - - 53 0 0.00 76 61 44.53 RECQL 0 genome.wustl.edu 37 12 21623237 21623237 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 21623237 21623237 T 0 DEL RECQL ENST00000421138 human ensembl 74_37 -1 known frame_shift_del c.1841 p.K614fs 0.018 NULL pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC ENSG00000004700 55 0 0.00 40 14 25.93 RECQL5 0 genome.wustl.edu 37 17 73623721 73623723 + In_Frame_Del DEL TCT TCT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 73623721 73623723 TCT - DEL RECQL5 ENST00000317905 human ensembl 74_37 -1 known in_frame_del c.2857_2855 p.K952in_frame_del 0.000:0.005:0.052 NULL pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL5 HGNC ENSG00000108469 tier1 11 0 0.00 24 10 29.41 REN 0 genome.wustl.edu 37 1 204135375 204135377 + In_Frame_Del DEL AGC AGC - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AGC AGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 204135375 204135377 AGC - DEL REN ENST00000272190 human ensembl 74_37 -1 known in_frame_del c.47_45 p.L16in_frame_del 0.984:0.987:0.989 superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors REN HGNC ENSG00000143839 tier1 52 0 0.00 58 9 13.43 REV3L 0 genome.wustl.edu 37 6 111694984 111694984 + Missense_Mutation SNP G G C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 111694984 111694984 G C SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.4574 p.S1525C 1.000 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 - - 64 0 0.00 59 22 27.16 RHBDL1 0 genome.wustl.edu 37 16 727386 727386 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 727386 727386 C T SNP RHBDL1 ENST00000219551 human ensembl 74_37 +1 known missense c.881 p.A294V 1.000 pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met - no_errors RHBDL1 HGNC ENSG00000103269 tier1 - - 42 0 0.00 26 29 50.88 RHOBTB1 0 genome.wustl.edu 37 10 62647970 62647970 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 62647970 62647970 C A SNP RHOBTB1 ENST00000337910 human ensembl 74_37 -1 known missense c.1456 p.D486Y 1.000 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 - - 39 0 0.00 21 22 51.16 RHOJ 0 genome.wustl.edu 37 14 63671516 63671516 + RNA SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 63671516 63671516 C T SNP RHOJ ENST00000557133 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors RHOJ HGNC ENSG00000126785 tier1 - - 12 0 0.00 4 11 73.33 RIC3 0 genome.wustl.edu 37 11 8132633 8132633 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 8132633 8132633 C T SNP RIC3 ENST00000309737 human ensembl 74_37 -1 known missense c.722 p.R241H 0.219 NULL NULL - no_errors RIC3 HGNC ENSG00000166405 tier1 - - 33 0 0.00 25 7 21.88 RIC3 0 genome.wustl.edu 37 11 8159967 8159967 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 8159967 8159967 A - DEL RIC3 ENST00000524799 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RIC3 HGNC ENSG00000166405 tier1 19 0 0.00 11 14 56.00 RICTOR 0 genome.wustl.edu 37 5 38954826 38954826 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 38954826 38954826 T - DEL RICTOR ENST00000503698 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RICTOR HGNC ENSG00000164327 tier1 21 0 0.00 38 10 20.83 RIF1 0 genome.wustl.edu 37 2 152293790 152293790 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 152293790 152293790 T - DEL RIF1 ENST00000243326 human ensembl 74_37 +1 known frame_shift_del c.1408 p.S472fs 1.000 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 tier1 41 0 0.00 37 22 37.29 RIMBP2 0 genome.wustl.edu 37 12 130898732 130898732 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 130898732 130898732 T C SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known missense c.2590 p.M864V 1.000 pfam_SH3_2,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 - - 37 0 0.00 33 25 43.10 RIMS2 0 genome.wustl.edu 37 8 104933054 104933054 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 104933054 104933054 A - DEL RIMS2 ENST00000501515 human ensembl 74_37 +1 known rna NULL NULL 0.054 - - - no_errors RIMS2 HGNC ENSG00000176406 tier1 10 0 0.00 26 3 10.34 RIOK1 0 genome.wustl.edu 37 6 7404247 7404247 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 7404247 7404247 G T SNP RIOK1 ENST00000379834 human ensembl 74_37 +1 known missense c.841 p.G281C 1.000 pfam_RIO-like_kinase,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio1 pfam_RIO-like_kinase,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio1 - no_errors RIOK1 HGNC ENSG00000124784 tier1 - - 65 0 0.00 31 13 29.55 RN7SKP228 0 genome.wustl.edu 37 7 12916462 12916462 + RNA SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 12916462 12916462 C T SNP RN7SKP228 ENST00000411042 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RN7SKP228 HGNC ENSG00000222974 tier1 - - 8 0 0.00 4 6 60.00 RNF10 0 genome.wustl.edu 37 12 120984267 120984267 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 120984267 120984267 A - DEL RNF10 ENST00000413266 human ensembl 74_37 +1 known frame_shift_del c.217 p.N74fs 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF10 HGNC ENSG00000022840 tier1 26 0 0.00 17 9 34.62 RNF145 0 genome.wustl.edu 37 5 158630642 158630642 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 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 23 0 0.00 21 9 30.00 RNF19A 0 genome.wustl.edu 37 8 101277003 101277003 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 101277003 101277003 C T SNP RNF19A ENST00000341084 human ensembl 74_37 -1 known missense c.1202 p.R401H 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19A HGNC ENSG00000034677 tier1 rs138968684 - 27 0 0.00 59 21 26.25 RNF213 0 genome.wustl.edu 37 17 78360569 78360569 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 78360569 78360569 C A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.14800 p.L4934I 0.998 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 tier1 - - 22 0 0.00 33 10 23.26 RNF31 0 genome.wustl.edu 37 14 24621199 24621199 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 24621199 24621199 C T SNP RNF31 ENST00000324103 human ensembl 74_37 +1 known missense c.2128 p.R710W 1.000 NULL pfam_PUB_domain,pfam_Znf_C6HC,superfamily_UBA-like,superfamily_DEATH-like_dom,superfamily_Znf_FYVE_PHD,smart_Znf_RanBP2,smart_Znf_C6HC,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RanBP2 - no_errors RNF31 HGNC ENSG00000092098 tier1 - - 35 0 0.00 57 11 16.18 RNF32 0 genome.wustl.edu 37 7 156437370 156437370 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 156437370 156437370 A - DEL RNF32 ENST00000317955 human ensembl 74_37 +1 known frame_shift_del c.193 p.T67fs 0.451 NULL pfam_Znf_C3HC4_RING-type,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Znf_RING,pfscan_IQ_motif_EF-hand-BS,pfscan_Znf_RING - no_errors RNF32 HGNC ENSG00000105982 tier1 16 0 0.00 7 5 41.67 RNF4 0 genome.wustl.edu 37 4 2514166 2514168 + In_Frame_Del DEL AAG AAG - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 2514166 2514168 AAG 0 DEL RNF4 ENST00000314289 human ensembl 74_37 +1 known in_frame_del c.216_218 p.R75in_frame_del 0.165:0.148:0.116 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF4 HGNC ENSG00000063978 32 0 0.00 69 8 10.39 RNF43 0 genome.wustl.edu 37 17 56440667 56440667 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 56440667 56440667 A G SNP RNF43 ENST00000407977 human ensembl 74_37 -1 known missense c.551 p.V184A 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 tier1 - - 34 0 0.00 45 16 25.81 RNU6-661P 0 genome.wustl.edu 37 5 61739107 61739108 + RNA INS - - A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 61739107 61739108 - A INS RNU6-661P ENST00000362409 human ensembl 74_37 +1 known rna NULL NULL 0.003:0.007 - - - no_errors RNU6-661P HGNC ENSG00000199279 tier1 13 0 0.00 5 7 58.33 ROM1 0 genome.wustl.edu 37 11 62381084 62381084 + Frame_Shift_Del DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 62381084 62381084 G - DEL ROM1 ENST00000278833 human ensembl 74_37 +1 known frame_shift_del c.331 p.L114fs 0.023 pfam_Tetraspanin/Peripherin,prints_Peripherin/rom-1 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1 - no_errors ROM1 HGNC ENSG00000149489 tier1 69 0 0.00 75 42 35.90 RPE65 0 genome.wustl.edu 37 1 68903930 68903931 + Frame_Shift_Ins INS - - T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 68903930 68903931 - T INS RPE65 ENST00000262340 human ensembl 74_37 -1 known frame_shift_ins c.1068_1067 p.N356fs 0.995:1.000 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors RPE65 HGNC ENSG00000116745 tier1 48 0 0.00 46 20 30.30 RPL12P38 0 genome.wustl.edu 37 17 58512851 58512851 + RNA SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 58512851 58512851 G A SNP RPL12P38 ENST00000588627 human ensembl 74_37 -1 known rna NULL NULL 0.015 - - - no_errors RPL12P38 HGNC ENSG00000213228 17 0 0.00 19 6 24.00 RPL13 0 genome.wustl.edu 37 16 89629407 89629407 + Frame_Shift_Del DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 89629407 89629407 G - DEL RPL13 ENST00000311528 human ensembl 74_37 +1 known frame_shift_del c.593 p.R198fs 1.000 NULL pfam_Ribosomal_L13e - no_errors RPL13 HGNC ENSG00000167526 tier1 23 0 0.00 30 9 23.08 RPL18A 0 genome.wustl.edu 37 19 17972276 17972276 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 17972276 17972276 G T SNP RPL18A ENST00000222247 human ensembl 74_37 +1 known missense c.193 p.G65W 0.999 pfam_Ribosomal_L18a/LX pfam_Ribosomal_L18a/LX - no_errors RPL18A HGNC ENSG00000105640 tier1 - - 12 0 0.00 11 6 35.29 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 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 25 0 0.00 15 9 37.50 RPL41 0 genome.wustl.edu 37 12 56510435 56510435 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 56510435 56510435 T - DEL RPL41 ENST00000358888 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RPL41 HGNC ENSG00000229117 tier1 25 0 0.00 28 7 20.00 RPLP0P2 0 genome.wustl.edu 37 11 61405179 61405179 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 61405179 61405179 A - DEL RPLP0P2 ENST00000496593 human ensembl 74_37 +1 known rna NULL NULL 0.975 - - - no_errors RPLP0P2 HGNC ENSG00000243742 tier1 32 0 0.00 21 7 25.00 RPS10P7 0 genome.wustl.edu 37 1 201489719 201489719 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 201489719 201489719 A - DEL RPS10P7 ENST00000441932 human ensembl 74_37 +1 known rna NULL NULL 0.056 - - - no_errors RPS10P7 HGNC ENSG00000223396 tier1 11 0 0.00 3 5 62.50 RPS26 0 genome.wustl.edu 37 12 56436335 56436336 + Frame_Shift_Del DEL AT AT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 56436335 56436336 AT - DEL RPS26 ENST00000356464 human ensembl 74_37 +1 known frame_shift_del c.130_131 p.I44fs 1.000:0.998 pfam_Ribosomal_S26e pfam_Ribosomal_S26e - no_errors RPS26 HGNC ENSG00000197728 tier1 50 0 0.00 67 33 33.00 RPS6KA5 0 genome.wustl.edu 37 14 91366489 91366489 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 91366489 91366489 T - DEL RPS6KA5 ENST00000261991 human ensembl 74_37 -1 known frame_shift_del c.1342 p.S448fs 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_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Aminoglycoside_PTrfase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_AGC-kinase_C,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA5 HGNC ENSG00000100784 tier1 30 0 0.00 43 60 58.25 RRP7A 0 genome.wustl.edu 37 22 42910203 42910203 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 22 42910203 42910203 G A SNP RRP7A ENST00000323013 human ensembl 74_37 -1 known silent c.666 p.S222 1.000 NULL NULL - no_errors RRP7A HGNC ENSG00000189306 tier1 - - 41 0 0.00 61 27 30.68 RRP7B 0 genome.wustl.edu 37 22 42972025 42972025 + RNA SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 22 42972025 42972025 G A SNP RRP7B ENST00000357802 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RRP7B HGNC ENSG00000182841 72 0 0.00 114 7 5.79 RTKN2 0 genome.wustl.edu 37 10 63958149 63958149 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 63958149 63958149 T - DEL RTKN2 ENST00000373789 human ensembl 74_37 -1 known frame_shift_del c.1348 p.I450fs 1.000 NULL pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors RTKN2 HGNC ENSG00000182010 tier1 43 0 0.00 24 17 41.46 RTN2 0 genome.wustl.edu 37 19 45996513 45996513 + Frame_Shift_Del DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 45996513 45996513 G - DEL RTN2 ENST00000245923 human ensembl 74_37 -1 known frame_shift_del c.938 p.P313fs 0.005 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN2 HGNC ENSG00000125744 tier1 34 0 0.00 14 11 44.00 RTN4 0 genome.wustl.edu 37 2 55252408 55252408 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 55252408 55252408 A G SNP RTN4 ENST00000337526 human ensembl 74_37 -1 known missense c.2827 p.S943P 0.376 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN4 HGNC ENSG00000115310 tier1 - - 41 0 0.00 46 6 11.54 RUNX1 0 genome.wustl.edu 37 21 36206863 36206863 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 21 36206863 36206863 C T SNP RUNX1 ENST00000300305 human ensembl 74_37 -1 known missense c.649 p.G217R 1.000 pirsf_TF_Runt-rel_RUNX pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX1 HGNC ENSG00000159216 tier1 - - 49 0 0.00 49 24 32.88 RUNX1T1 0 genome.wustl.edu 37 8 92988144 92988144 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 92988144 92988144 C A SNP RUNX1T1 ENST00000436581 human ensembl 74_37 -1 known missense c.1370 p.W457L 1.000 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 tier1 - - 27 0 0.00 19 50 72.46 RUNX2 0 genome.wustl.edu 37 6 45296446 45296446 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 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 29 0 0.00 19 10 34.48 RXFP1 0 genome.wustl.edu 37 4 159554592 159554592 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 159554592 159554592 C T SNP RXFP1 ENST00000307765 human ensembl 74_37 +1 known missense c.935 p.P312L 0.892 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam - no_errors RXFP1 HGNC ENSG00000171509 tier1 rs200427299 - 72 0 0.00 45 19 29.69 RYR1 0 genome.wustl.edu 37 19 38937180 38937180 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 38937180 38937180 C A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.700 p.P234T 0.063 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif 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 - - 40 0 0.00 20 16 44.44 RYR1 0 genome.wustl.edu 37 19 39019604 39019606 + In_Frame_Del DEL AGG AGG - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 39019604 39019606 AGG - DEL RYR1 ENST00000359596 human ensembl 74_37 +1 known in_frame_del c.11048_11050 p.E3687in_frame_del 1.000:1.000:1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 23 0 0.00 11 6 35.29 SAAL1 0 genome.wustl.edu 37 11 18103046 18103046 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 18103046 18103046 G A SNP SAAL1 ENST00000524803 human ensembl 74_37 -1 known missense c.1244 p.T415M 0.011 NULL superfamily_ARM-type_fold - no_errors SAAL1 HGNC ENSG00000166788 13 0 0.00 20 3 13.04 SAFB 0 genome.wustl.edu 37 19 5653399 5653399 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 5653399 5653399 C T SNP SAFB ENST00000588852 human ensembl 74_37 +1 known silent c.1494 p.D498 0.048 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB HGNC ENSG00000160633 tier1 - - 15 0 0.00 14 9 39.13 SBNO2 0 genome.wustl.edu 37 19 1122525 1122525 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 1122525 1122525 G A SNP SBNO2 ENST00000361757 human ensembl 74_37 -1 known missense c.947 p.A316V 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SBNO2 HGNC ENSG00000064932 tier1 - - 13 0 0.00 9 5 35.71 SCAF1 0 genome.wustl.edu 37 19 50158042 50158042 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 50158042 50158042 C - DEL SCAF1 ENST00000360565 human ensembl 74_37 +1 known frame_shift_del c.3533 p.T1181fs 0.934 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 tier1 11 0 0.00 4 6 60.00 SCARB1 0 genome.wustl.edu 37 12 125292390 125292390 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 125292390 125292390 G T SNP SCARB1 ENST00000415380 human ensembl 74_37 -1 known missense c.926 p.A309D 1.000 pfam_CD36 pfam_CD36,prints_CD36,prints_CD36_antigen - no_errors SCARB1 HGNC ENSG00000073060 34 0 0.00 57 3 5.00 SCN4B 0 genome.wustl.edu 37 11 118006753 118006754 + RNA DEL GG GG - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 118006753 118006754 GG - DEL SCN4B ENST00000423160 human ensembl 74_37 -1 known rna NULL NULL 0.004:0.004 - - - no_errors SCN4B HGNC ENSG00000177098 tier1 8 0 0.00 12 4 25.00 SCOC 0 genome.wustl.edu 37 4 141302186 141302186 + Silent SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 141302186 141302186 A G SNP SCOC ENST00000608372 human ensembl 74_37 +1 known silent c.408 p.G136 0.999 pfam_DUF2205_coiled-coil pfam_DUF2205_coiled-coil - no_errors SCOC HGNC ENSG00000153130 tier1 - - 31 0 0.00 28 9 24.32 SCPEP1 0 genome.wustl.edu 37 17 55058513 55058513 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 55058513 55058513 C A SNP SCPEP1 ENST00000575423 human ensembl 74_37 +1 known missense c.112 p.L38I 0.011 NULL NULL - no_errors SCPEP1 HGNC ENSG00000121064 tier1 - - 50 0 0.00 46 34 42.50 SCUBE2 0 genome.wustl.edu 37 11 9090982 9090982 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 9090982 9090982 C A SNP SCUBE2 ENST00000457346 human ensembl 74_37 -1 known missense c.578 p.R193M 0.931 smart_EG-like_dom 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 - - 21 0 0.00 20 15 42.86 SDCBP2 0 genome.wustl.edu 37 20 1293248 1293248 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 1293248 1293248 G A SNP SDCBP2 ENST00000339987 human ensembl 74_37 -1 known silent c.543 p.V181 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SDCBP2 HGNC ENSG00000125775 tier1 rs151023134 - 46 0 0.00 62 75 54.74 SDS 0 genome.wustl.edu 37 12 113831717 113831717 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 113831717 113831717 G A SNP SDS ENST00000257549 human ensembl 74_37 -1 known missense c.758 p.A253V 0.294 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF - no_errors SDS HGNC ENSG00000135094 tier1 - - 13 0 0.00 16 12 42.86 SEC14L1 0 genome.wustl.edu 37 17 75208083 75208083 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 75208083 75208083 G A SNP SEC14L1 ENST00000392476 human ensembl 74_37 +1 known missense c.1663 p.V555M 1.000 superfamily_GOLD,pfscan_GOLD pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC ENSG00000129657 tier1 - - 27 0 0.00 29 8 21.62 SEC14L5 0 genome.wustl.edu 37 16 5061151 5061152 + Frame_Shift_Ins INS - - C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 5061151 5061152 - C INS SEC14L5 ENST00000251170 human ensembl 74_37 +1 known frame_shift_ins c.1856_1857 p.S622fs 0.002:0.000 superfamily_GOLD,pfscan_GOLD pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran - no_errors SEC14L5 HGNC ENSG00000103184 tier1 48 0 0.00 78 26 25.00 SEC24A 0 genome.wustl.edu 37 5 133997018 133997018 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 133997018 133997018 G T SNP SEC24A ENST00000398844 human ensembl 74_37 +1 known missense c.307 p.G103C 0.975 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24A HGNC ENSG00000113615 tier1 - - 73 0 0.00 69 4 5.48 SELK 0 genome.wustl.edu 37 3 53920927 53920927 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 53920927 53920927 T - DEL SELK ENST00000541726 human ensembl 74_37 -1 known frame_shift_del c.145 p.R49fs 0.878 pfam_Se_SelK/SelG pfam_Se_SelK/SelG - no_errors SELK Uniprot_gn ENSG00000113811 tier1 31 0 0.00 10 13 56.52 SEMA3F 0 genome.wustl.edu 37 3 50222192 50222192 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 50222192 50222192 C T SNP SEMA3F ENST00000002829 human ensembl 74_37 +1 known silent c.1401 p.A467 0.135 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3F HGNC ENSG00000001617 tier1 rs139236502 - 69 0 0.00 26 33 55.93 SERPINB10 0 genome.wustl.edu 37 18 61584739 61584739 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 18 61584739 61584739 A - DEL SERPINB10 ENST00000238508 human ensembl 74_37 +1 known frame_shift_del c.218 p.R76fs 0.998 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB10 HGNC ENSG00000242550 tier1 26 0 0.00 20 8 28.57 SETD1A 0 genome.wustl.edu 37 16 30990868 30990868 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 30990868 30990868 C T SNP SETD1A ENST00000262519 human ensembl 74_37 +1 known missense c.3761 p.A1254V 0.926 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 SETD1A HGNC ENSG00000099381 tier1 - - 9 0 0.00 2 6 75.00 SETDB1 0 genome.wustl.edu 37 1 150917540 150917540 + Nonsense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 150917540 150917540 C T SNP SETDB1 ENST00000271640 human ensembl 74_37 +1 known nonsense c.1096 p.R366* 1.000 smart_Tudor pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 tier1 - - 82 0 0.00 117 21 15.22 SETDB1 0 genome.wustl.edu 37 1 150931756 150931756 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 150931756 150931756 G A SNP SETDB1 ENST00000271640 human ensembl 74_37 +1 known silent c.2433 p.Q811 1.000 smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 tier1 - - 91 0 0.00 68 34 33.33 SF1 0 genome.wustl.edu 37 11 64536544 64536545 + Frame_Shift_Del DEL AC AC - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 64536544 64536545 AC - DEL SF1 ENST00000377390 human ensembl 74_37 -1 known frame_shift_del c.837_836 p.C279fs 0.968:1.000 pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1 - no_errors SF1 HGNC ENSG00000168066 tier1 38 0 0.00 58 26 30.95 SF3B2 0 genome.wustl.edu 37 11 65827296 65827296 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 65827296 65827296 C T SNP SF3B2 ENST00000322535 human ensembl 74_37 +1 known missense c.1445 p.A482V 0.999 pfam_DUF382 pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom - no_errors SF3B2 HGNC ENSG00000087365 tier1 - - 34 0 0.00 99 13 11.61 SF3B3 0 genome.wustl.edu 37 16 70590170 70590170 + Missense_Mutation SNP A A T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 70590170 70590170 A T SNP SF3B3 ENST00000302516 human ensembl 74_37 +1 known missense c.1799 p.Q600L 1.000 superfamily_WD40_repeat_dom pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 tier1 - - 51 0 0.00 53 46 46.46 SH2D4B 0 genome.wustl.edu 37 10 82402760 82402760 + RNA SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 82402760 82402760 C T SNP SH2D4B ENST00000481537 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SH2D4B HGNC ENSG00000178217 tier1 - - 37 0 0.00 36 6 14.29 SH3PXD2B 0 genome.wustl.edu 37 5 171809111 171809111 + Frame_Shift_Del DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 171809111 171809111 G - DEL SH3PXD2B ENST00000311601 human ensembl 74_37 -1 known frame_shift_del c.330 p.Y111fs 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac-type,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2B HGNC ENSG00000174705 tier1 17 0 0.00 8 35 81.40 SIK1 0 genome.wustl.edu 37 21 44839827 44839827 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 21 44839827 44839827 C T SNP SIK1 ENST00000270162 human ensembl 74_37 -1 known missense c.1031 p.R344Q 1.000 pirsf_Ser/Thr_kinase_SIK1/2 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_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK1 HGNC ENSG00000142178 tier1 - - 30 0 0.00 24 12 33.33 SIRT7 0 genome.wustl.edu 37 17 79872373 79872373 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 79872373 79872373 C T SNP SIRT7 ENST00000328666 human ensembl 74_37 -1 known missense c.613 p.V205M 0.944 pfam_Sirtuin,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT7 HGNC ENSG00000187531 tier1 - - 26 0 0.00 32 32 50.00 SIX3 0 genome.wustl.edu 37 2 45171872 45171872 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 45171872 45171872 C T SNP SIX3 ENST00000260653 human ensembl 74_37 +1 known silent c.972 p.T324 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX3 HGNC ENSG00000138083 tier1 - - 15 0 0.00 33 26 44.07 SLC12A7 0 genome.wustl.edu 37 5 1085510 1085510 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 1085510 1085510 G A SNP SLC12A7 ENST00000264930 human ensembl 74_37 -1 known missense c.754 p.R252C 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 26 0 0.00 114 9 7.32 SLC12A9 0 genome.wustl.edu 37 7 100424578 100424579 + RNA DEL CC CC - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 100424578 100424579 CC - DEL SLC12A9 ENST00000461016 human ensembl 74_37 +1 putative rna NULL NULL 0.002:0.080 - - - no_errors SLC12A9 HGNC ENSG00000146828 tier1 14 0 0.00 21 8 27.59 SLC14A2 0 genome.wustl.edu 37 18 43248420 43248420 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 18 43248420 43248420 G A SNP SLC14A2 ENST00000255226 human ensembl 74_37 +1 known missense c.2014 p.V672I 0.856 pfam_Urea_transporter pfam_Urea_transporter - no_errors SLC14A2 HGNC ENSG00000132874 tier1 rs145938404 - 88 0 0.00 78 20 20.41 SLC16A8 0 genome.wustl.edu 37 22 38474461 38474461 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 22 38474461 38474461 G A SNP SLC16A8 ENST00000320521 human ensembl 74_37 -1 known silent c.1449 p.S483 0.990 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A8 HGNC ENSG00000100156 tier1 - - 19 0 0.00 42 11 20.75 SLC25A41 0 genome.wustl.edu 37 19 6430130 6430131 + Frame_Shift_Ins INS - - C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 6430130 6430131 - C INS SLC25A41 ENST00000321510 human ensembl 74_37 -1 known frame_shift_ins c.406_405 p.L135fs 0.009:0.003 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A41 HGNC ENSG00000181240 tier1 30 0 0.00 63 13 17.11 SLC26A8 0 genome.wustl.edu 37 6 35944996 35944996 + Silent SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 35944996 35944996 A G SNP SLC26A8 ENST00000355574 human ensembl 74_37 -1 known silent c.1158 p.S386 0.000 pfam_Sulph_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A8 HGNC ENSG00000112053 tier1 - - 35 0 0.00 21 9 30.00 SLC29A1 0 genome.wustl.edu 37 6 44201262 44201262 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 44201262 44201262 G A SNP SLC29A1 ENST00000313248 human ensembl 74_37 +1 known silent c.1605 p.V535 1.000 tigrfam_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt - no_errors SLC29A1 HGNC ENSG00000112759 tier1 - - 32 0 0.00 33 14 29.79 SLC2A6 0 genome.wustl.edu 37 9 136339152 136339152 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 136339152 136339152 G A SNP SLC2A6 ENST00000371899 human ensembl 74_37 -1 known missense c.986 p.A329V 0.997 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A6 HGNC ENSG00000160326 tier1 - - 64 0 0.00 93 43 31.62 SLC2A8 0 genome.wustl.edu 37 9 130166382 130166382 + RNA DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 130166382 130166382 C - DEL SLC2A8 ENST00000485806 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC2A8 HGNC ENSG00000136856 tier1 31 0 0.00 47 21 30.88 SLC4A1AP 0 genome.wustl.edu 37 2 27917513 27917513 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 27917513 27917513 A G SNP SLC4A1AP ENST00000326019 human ensembl 74_37 +1 known missense c.2354 p.D785G 1.000 NULL pfam_FHA_dom,pfam_dsRNA-bd_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SLC4A1AP HGNC ENSG00000163798 tier1 - - 53 0 0.00 45 20 30.30 SLC5A10 0 genome.wustl.edu 37 17 18916758 18916758 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 18916758 18916758 C T SNP SLC5A10 ENST00000395647 human ensembl 74_37 +1 known missense c.1066 p.R356W 1.000 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 SLC5A10 HGNC ENSG00000154025 tier1 - - 35 0 0.00 61 47 43.52 SLC6A13 0 genome.wustl.edu 37 12 369121 369121 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 369121 369121 C T SNP SLC6A13 ENST00000343164 human ensembl 74_37 -1 known missense c.98 p.G33E 0.913 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 - - 61 0 0.00 74 55 42.64 SLC9C2 0 genome.wustl.edu 37 1 173526482 173526482 + Silent SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 173526482 173526482 T C SNP SLC9C2 ENST00000367714 human ensembl 74_37 -1 known silent c.1212 p.Q404 0.052 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 tier1 - - 24 0 0.00 16 22 57.89 SLC9C2 0 genome.wustl.edu 37 1 173567087 173567087 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 173567087 173567087 C A SNP SLC9C2 ENST00000367714 human ensembl 74_37 -1 known missense c.313 p.A105S 1.000 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 19 0 0.00 28 2 6.67 SLCO3A1 0 genome.wustl.edu 37 15 92459375 92459375 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 15 92459375 92459375 C T SNP SLCO3A1 ENST00000318445 human ensembl 74_37 +1 known silent c.333 p.C111 0.997 pfam_OA_transporter,pfam_MFS,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 - - 17 0 0.00 19 8 29.63 SLCO6A1 0 genome.wustl.edu 37 5 101834246 101834246 + Nonsense_Mutation SNP A A T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 101834246 101834246 A T SNP SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known nonsense c.303 p.C101* 0.779 tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 tier1 - - 27 0 0.00 11 23 67.65 SLFN14 0 genome.wustl.edu 37 17 33879871 33879871 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 33879871 33879871 A - DEL SLFN14 ENST00000415846 human ensembl 74_37 -1 known frame_shift_del c.1782 p.P595fs 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA-4,superfamily_P-loop_NTPase - no_errors SLFN14 HGNC ENSG00000236320 tier1 22 0 0.00 21 6 22.22 SLITRK4 0 genome.wustl.edu 37 X 142717789 142717789 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 X 142717789 142717789 G A SNP SLITRK4 ENST00000338017 human ensembl 74_37 -1 known missense c.1136 p.A379V 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK4 HGNC ENSG00000179542 tier1 - - 31 0 0.00 6 25 80.65 SMARCAL1 0 genome.wustl.edu 37 2 217300166 217300168 + In_Frame_Del DEL CTT CTT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 217300166 217300168 CTT - DEL SMARCAL1 ENST00000357276 human ensembl 74_37 +1 known in_frame_del c.1591_1593 p.L532in_frame_del 1.000:1.000:0.972 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_HARP_dom,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 SMARCAL1 HGNC ENSG00000138375 tier1 47 0 0.00 42 24 36.36 SMARCD2 0 genome.wustl.edu 37 17 61911556 61911556 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 61911556 61911556 A G SNP SMARCD2 ENST00000448276 human ensembl 74_37 -1 known missense c.1054 p.Y352H 1.000 pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD2 HGNC ENSG00000108604 tier1 - - 12 0 0.00 12 8 38.10 SMG1P1 0 genome.wustl.edu 37 16 22503208 22503208 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 22503208 22503208 A - DEL SMG1P1 ENST00000431681 human ensembl 74_37 +1 known rna NULL NULL 0.087 - - - no_errors SMG1P1 HGNC ENSG00000237296 tier1 55 0 0.00 57 17 22.97 SMPD2 0 genome.wustl.edu 37 6 109764847 109764847 + Silent SNP C C G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 109764847 109764847 C G SNP SMPD2 ENST00000258052 human ensembl 74_37 +1 known silent c.1011 p.L337 0.238 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors SMPD2 HGNC ENSG00000135587 tier1 - - 45 0 0.00 29 25 45.45 SNORA67 0 genome.wustl.edu 37 17 7482902 7482903 + RNA DEL TT TT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 7482902 7482903 TT - DEL SNORA67 ENST00000581621 human ensembl 74_37 +1 known rna NULL NULL 0.931:0.983 - - - no_errors SNORA67 HGNC ENSG00000264772 tier1 44 0 0.00 44 26 37.14 SNORD115-19 0 genome.wustl.edu 37 15 25449560 25449560 + RNA SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 15 25449560 25449560 T C SNP SNORD115-19 ENST00000363098 human ensembl 74_37 +1 known rna NULL NULL 0.871 - - - no_errors SNORD115-19 HGNC ENSG00000199968 56 0 0.00 70 4 5.41 SNORD115-42 0 genome.wustl.edu 37 15 25492540 25492540 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 15 25492540 25492540 A - DEL SNORD115-42 ENST00000364273 human ensembl 74_37 +1 known rna NULL NULL 0.981 - - - no_errors SNORD115-42 HGNC ENSG00000201143 tier1 58 0 0.00 37 52 58.43 SNRNP25 0 genome.wustl.edu 37 16 106355 106356 + Frame_Shift_Del DEL CT CT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 106355 106356 CT - DEL SNRNP25 ENST00000397876 human ensembl 74_37 +1 known frame_shift_del c.274_275 p.*93fs 0.357:0.368 NULL NULL - no_errors SNRNP25 HGNC ENSG00000161981 tier1 28 0 0.00 38 6 13.64 SNRNP40 0 genome.wustl.edu 37 1 31732678 31732679 + RNA DEL AA AA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 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 22 0 0.00 8 8 50.00 SNX19 0 genome.wustl.edu 37 11 130775936 130775936 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 130775936 130775936 T 0 DEL SNX19 ENST00000265909 human ensembl 74_37 -1 known frame_shift_del c.2355 p.D786fs 0.005 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc - no_errors SNX19 HGNC ENSG00000120451 44 0 0.00 39 7 15.22 SNX20 0 genome.wustl.edu 37 16 50707525 50707525 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 50707525 50707525 G A SNP SNX20 ENST00000330943 human ensembl 74_37 -1 known missense c.743 p.A248V 0.493 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX20 HGNC ENSG00000167208 tier1 - - 18 0 0.00 26 23 46.94 SNX21 0 genome.wustl.edu 37 20 44470649 44470651 + RNA DEL TTT TTT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 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 39 0 0.00 63 10 13.70 SNX25 0 genome.wustl.edu 37 4 186244914 186244914 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 186244914 186244914 A - DEL SNX25 ENST00000264694 human ensembl 74_37 +1 known frame_shift_del c.1217 p.K407fs 0.952 NULL 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 54 0 0.00 35 12 25.53 SOCS5 0 genome.wustl.edu 37 2 46986468 46986468 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 46986468 46986468 A G SNP SOCS5 ENST00000306503 human ensembl 74_37 +1 known missense c.799 p.R267G 1.000 NULL pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS5 HGNC ENSG00000171150 tier1 - - 49 0 0.00 29 30 50.85 SORBS1 0 genome.wustl.edu 37 10 97096993 97096993 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 97096993 97096993 C T SNP SORBS1 ENST00000361941 human ensembl 74_37 -1 known missense c.2924 p.R975Q 0.996 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 tier1 - - 29 0 0.00 30 11 26.83 SORBS2 0 genome.wustl.edu 37 4 186541266 186541266 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 186541266 186541266 T C SNP SORBS2 ENST00000284776 human ensembl 74_37 -1 known missense c.2543 p.D848G 0.992 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 - - 64 0 0.00 61 13 17.57 SORCS1 0 genome.wustl.edu 37 10 108923947 108923947 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 108923947 108923947 G A SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known missense c.338 p.A113V 0.000 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 tier1 - - 19 0 0.00 23 12 34.29 SOS2 0 genome.wustl.edu 37 14 50623685 50623685 + RNA SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 50623685 50623685 A G SNP SOS2 ENST00000555794 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors SOS2 HGNC ENSG00000100485 tier1 - - 24 0 0.00 22 20 47.62 SOWAHA 0 genome.wustl.edu 37 5 132150631 132150631 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 132150631 132150631 G A SNP SOWAHA ENST00000378693 human ensembl 74_37 +1 known missense c.1318 p.D440N 0.986 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SOWAHA HGNC ENSG00000198944 tier1 - - 11 0 0.00 10 5 33.33 SOX2-OT 0 genome.wustl.edu 37 3 181417763 181417763 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 181417763 181417763 T - DEL SOX2-OT ENST00000597347 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SOX2-OT HGNC ENSG00000242808 tier1 11 0 0.00 25 11 30.56 SP2 0 genome.wustl.edu 37 17 46000463 46000463 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 46000463 46000463 A - DEL SP2 ENST00000376741 human ensembl 74_37 +1 known frame_shift_del c.1195 p.K400fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP2 HGNC ENSG00000167182 tier1 27 0 0.00 27 13 32.50 SPATA1 0 genome.wustl.edu 37 1 84991635 84991635 + RNA SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 84991635 84991635 T C SNP SPATA1 ENST00000370638 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA1 HGNC ENSG00000122432 tier1 - - 38 0 0.00 54 12 18.18 SPATA13 0 genome.wustl.edu 37 13 24798196 24798196 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 13 24798196 24798196 G A SNP SPATA13 ENST00000382108 human ensembl 74_37 +1 known missense c.1129 p.G377R 0.000 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 - - 31 0 0.00 29 18 38.30 SPATA2L 0 genome.wustl.edu 37 16 89764373 89764374 + Frame_Shift_Ins INS - - G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 89764373 89764374 - G INS SPATA2L ENST00000289805 human ensembl 74_37 -1 known frame_shift_ins c.644_643 p.R215fs 0.007:0.010 NULL NULL - no_errors SPATA2L HGNC ENSG00000158792 tier1 45 0 0.00 82 23 21.90 SPATA42 0 genome.wustl.edu 37 1 109400924 109400925 + RNA DEL TT TT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 109400924 109400925 TT - DEL SPATA42 ENST00000417241 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors SPATA42 HGNC ENSG00000203897 tier1 20 0 0.00 12 2 14.29 SPATA5 0 genome.wustl.edu 37 4 123855285 123855285 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 123855285 123855285 A G SNP SPATA5 ENST00000274008 human ensembl 74_37 +1 known missense c.539 p.Y180C 0.268 NULL pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase - no_errors SPATA5 HGNC ENSG00000145375 tier1 - - 43 0 0.00 34 16 32.00 SPEG 0 genome.wustl.edu 37 2 220333698 220333698 + Missense_Mutation SNP A A T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 220333698 220333698 A T SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.3419 p.N1140I 0.976 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 - - 45 0 0.00 52 33 38.82 SPHKAP 0 genome.wustl.edu 37 2 228884465 228884465 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 228884465 228884465 C T SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.1105 p.G369R 0.001 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 tier1 - - 62 0 0.00 70 36 33.96 SPTBN5 0 genome.wustl.edu 37 15 42160632 42160632 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 15 42160632 42160632 C T SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known silent c.6021 p.Q2007 0.992 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 tier1 - - 46 0 0.00 17 48 73.85 SQLE 0 genome.wustl.edu 37 8 126017779 126017779 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 126017779 126017779 G T SNP SQLE ENST00000265896 human ensembl 74_37 +1 known missense c.557 p.G186V 1.000 pfam_mOase_FAD-bd pfam_Squalene_epoxidase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_Rng_hydrolase-like - no_errors SQLE HGNC ENSG00000104549 tier1 - - 39 0 0.00 117 24 17.02 SRCIN1 0 genome.wustl.edu 37 17 36699355 36699355 + RNA SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 36699355 36699355 G A SNP SRCIN1 ENST00000398579 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SRCIN1 HGNC ENSG00000017373 tier1 - - 13 0 0.00 28 21 42.00 SREK1IP1 0 genome.wustl.edu 37 5 64023941 64023941 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 64023941 64023941 T C SNP SREK1IP1 ENST00000513458 human ensembl 74_37 -1 known missense c.271 p.R91G 1.000 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors SREK1IP1 HGNC ENSG00000153006 36 0 0.00 21 4 8.33 SRL 0 genome.wustl.edu 37 16 4257572 4257572 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 4257572 4257572 C T SNP SRL ENST00000572111 human ensembl 74_37 -1 known missense c.595 p.V199I 0.004 NULL NULL - no_errors SRL HGNC ENSG00000185739 tier1 - - 44 0 0.00 36 32 47.06 SRP14 0 genome.wustl.edu 37 15 40328597 40328599 + In_Frame_Del DEL TGC TGC - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 15 40328597 40328599 TGC - DEL SRP14 ENST00000267884 human ensembl 74_37 -1 known in_frame_del c.348_346 p.A116in_frame_del 0.058:0.058:0.057 prints_Antifreeze_1 pfam_Signal_recog_particle_SRP14,superfamily_Signal_recog_particle_SRP9/14,prints_Antifreeze_1 - no_errors SRP14 HGNC ENSG00000140319 tier1 57 0 0.00 93 11 10.58 SRP72 0 genome.wustl.edu 37 4 57333820 57333820 + Frame_Shift_Del DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 57333820 57333820 G - DEL SRP72 ENST00000342756 human ensembl 74_37 +1 known frame_shift_del c.19 p.V9fs 0.920 NULL pfam_Signal_recog_part_SRP72_RNA-bd,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SRP72 HGNC ENSG00000174780 tier1 15 0 0.00 16 18 52.94 SRPK1 0 genome.wustl.edu 37 6 35838144 35838145 + Frame_Shift_Ins INS - - T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 35838144 35838145 - T INS SRPK1 ENST00000373825 human ensembl 74_37 -1 known frame_shift_ins c.905_904 p.R302fs 1.000:1.000 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 SRPK1 HGNC ENSG00000096063 tier1 52 0 0.00 41 9 18.00 SRPR 0 genome.wustl.edu 37 11 126137087 126137087 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 126137087 126137087 T - DEL SRPR ENST00000332118 human ensembl 74_37 -1 known frame_shift_del c.509 p.K170fs 0.991 pfam_Sig_recog_particle_rcpt_asu_N pfam_Sig_recog_particle_rcpt_asu_N,pfam_SRP54_GTPase_dom,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom - no_errors SRPR HGNC ENSG00000182934 tier1 110 0 0.00 114 29 20.28 SRRD 0 genome.wustl.edu 37 22 26884176 26884176 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 22 26884176 26884176 C T SNP SRRD ENST00000215917 human ensembl 74_37 +1 known silent c.432 p.Y144 0.950 pfam_SRR1-like pfam_SRR1-like - no_errors SRRD HGNC ENSG00000100104 tier1 - - 19 0 0.00 19 13 40.62 SRRM2 0 genome.wustl.edu 37 16 2821468 2821468 + RNA SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 2821468 2821468 C T SNP SRRM2 ENST00000573583 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors SRRM2 HGNC ENSG00000167978 tier1 - - 42 0 0.00 65 19 22.62 SRRM2 0 genome.wustl.edu 37 16 2812095 2812095 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 2812095 2812095 G T SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.1566 p.W522C 1.000 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 25 0 0.00 27 4 12.50 SS18L1 0 genome.wustl.edu 37 20 60737811 60737811 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 60737811 60737811 C T SNP SS18L1 ENST00000370848 human ensembl 74_37 +1 known missense c.389 p.P130L 0.998 NULL pfam_SS18_fam - no_errors SS18L1 HGNC ENSG00000184402 tier1 - - 29 0 0.00 53 53 50.00 ST18 0 genome.wustl.edu 37 8 53055599 53055599 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 53055599 53055599 G T SNP ST18 ENST00000276480 human ensembl 74_37 -1 known missense c.2059 p.P687T 0.925 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 tier1 - - 38 0 0.00 94 38 28.79 STAG3L5P-PVRIG2P-PILRB 0 genome.wustl.edu 37 7 99943553 99943553 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 99943553 99943553 T - DEL STAG3L5P-PVRIG2P-PILRB ENST00000310771 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors STAG3L5P-PVRIG2P-PILRB HGNC ENSG00000272752 tier1 15 0 0.00 15 11 42.31 STK11 0 genome.wustl.edu 37 19 1220393 1220393 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 1220393 1220393 C T SNP STK11 ENST00000326873 human ensembl 74_37 +1 known silent c.486 p.D162 0.955 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 STK11 HGNC ENSG00000118046 tier1 - - 33 0 0.00 54 25 31.65 STK17A 0 genome.wustl.edu 37 7 43647973 43647973 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 43647973 43647973 C T SNP STK17A ENST00000319357 human ensembl 74_37 +1 known missense c.538 p.R180C 0.983 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 STK17A HGNC ENSG00000164543 tier1 - - 43 0 0.00 43 24 35.82 STL 0 genome.wustl.edu 37 6 125232172 125232172 + RNA SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 125232172 125232172 C T SNP STL ENST00000439075 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-510H23.1 Clone_based_vega_gene ENSG00000236548 tier1 - - 20 0 0.00 9 13 56.52 SURF1 0 genome.wustl.edu 37 9 136218825 136218826 + Frame_Shift_Del DEL AG AG - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 136218825 136218826 AG - DEL SURF1 ENST00000371974 human ensembl 74_37 -1 known frame_shift_del c.846_845 p.S282fs 1.000:1.000 pfam_Surf1/Shy1,pfscan_Surf1/Shy1 pfam_Surf1/Shy1,pfscan_Surf1/Shy1 - no_errors SURF1 HGNC ENSG00000148290 tier1 37 0 0.00 41 16 28.07 SVEP1 0 genome.wustl.edu 37 9 113208246 113208246 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 113208246 113208246 A G SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.4334 p.L1445P 0.969 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin 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 - - 23 0 0.00 28 13 31.71 SVIL 0 genome.wustl.edu 37 10 29762850 29762852 + In_Frame_Del DEL AGA AGA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 29762850 29762852 AGA - DEL SVIL ENST00000355867 human ensembl 74_37 -1 known in_frame_del c.5446_5444 p.F1815in_frame_del 1.000:1.000:1.000 pfam_Gelsolin_dom,smart_Villin/Gelsolin 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 20 0 0.00 19 3 13.64 SWT1 0 genome.wustl.edu 37 1 185151134 185151134 + Silent SNP T T A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 185151134 185151134 T A SNP SWT1 ENST00000367500 human ensembl 74_37 +1 known silent c.1083 p.P361 0.992 NULL smart_PIN_dom - no_errors SWT1 HGNC ENSG00000116668 tier1 - - 30 0 0.00 38 8 17.39 SYCP3 0 genome.wustl.edu 37 12 102122901 102122901 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 102122901 102122901 T - DEL SYCP3 ENST00000266743 human ensembl 74_37 -1 known frame_shift_del c.643 p.I215fs 0.988 NULL pfam_Cor1/Xlr/Xmr - no_errors SYCP3 HGNC ENSG00000139351 tier1 36 0 0.00 19 16 45.71 SYDE1 0 genome.wustl.edu 37 19 15222161 15222161 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 15222161 15222161 T C SNP SYDE1 ENST00000342784 human ensembl 74_37 +1 known missense c.1328 p.V443A 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC ENSG00000105137 tier1 - - 74 0 0.00 74 28 27.18 SYMPK 0 genome.wustl.edu 37 19 46328449 46328449 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 46328449 46328449 G A SNP SYMPK ENST00000245934 human ensembl 74_37 -1 known silent c.2470 p.L824 1.000 superfamily_ARM-type_fold pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC ENSG00000125755 tier1 - - 53 0 0.00 41 69 62.73 SYNE2 0 genome.wustl.edu 37 14 64655376 64655376 + Missense_Mutation SNP C C G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 64655376 64655376 C G SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.17821 p.L5941V 0.779 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 13 0 0.00 27 2 6.90 SYT2 0 genome.wustl.edu 37 1 202574790 202574790 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 202574790 202574790 C T SNP SYT2 ENST00000367267 human ensembl 74_37 -1 known silent c.111 p.G37 0.097 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT2 HGNC ENSG00000143858 tier1 - - 105 0 0.00 94 82 46.33 TAF1C 0 genome.wustl.edu 37 16 84213651 84213651 + Frame_Shift_Del DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 84213651 84213651 G - DEL TAF1C ENST00000378541 human ensembl 74_37 -1 known frame_shift_del c.1600 p.Q534fs 0.998 NULL superfamily_WD40_repeat_dom - no_errors TAF1C HGNC ENSG00000103168 tier1 8 0 0.00 12 5 29.41 TAF1D 0 genome.wustl.edu 37 11 93469128 93469128 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 93469128 93469128 T - DEL TAF1D ENST00000530089 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors TAF1D HGNC ENSG00000166012 tier1 12 0 0.00 10 4 28.57 TANC1 0 genome.wustl.edu 37 2 160050800 160050800 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 160050800 160050800 C T SNP TANC1 ENST00000263635 human ensembl 74_37 +1 known silent c.2775 p.N925 0.954 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 tier1 - - 34 0 0.00 54 18 25.00 TARS 0 genome.wustl.edu 37 5 33441106 33441106 + RNA SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 33441106 33441106 G A SNP TARS ENST00000502508 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TARS HGNC ENSG00000113407 tier1 - - 25 0 0.00 76 29 27.62 TBC1D1 0 genome.wustl.edu 37 4 38134424 38134426 + RNA DEL TTT TTT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 38134424 38134426 TTT - DEL TBC1D1 ENST00000405444 human ensembl 74_37 +1 known rna NULL NULL 0.018:0.027:0.074 - - - no_errors TBC1D1 HGNC ENSG00000065882 tier1 30 0 0.00 45 15 25.00 TBC1D29 0 genome.wustl.edu 37 17 28887667 28887667 + Silent SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 28887667 28887667 T C SNP TBC1D29 ENST00000579181 human ensembl 74_37 +1 known silent c.111 p.D37 1.000 superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D29 HGNC ENSG00000266733 tier1 rs78888987 - 63 0 0.00 141 12 7.84 TBC1D30 0 genome.wustl.edu 37 12 65269009 65269009 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 65269009 65269009 T C SNP TBC1D30 ENST00000229088 human ensembl 74_37 +1 known missense c.2216 p.M739T 0.702 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D30 HGNC ENSG00000111490 tier1 - - 18 0 0.00 23 16 41.03 TBC1D3P1-DHX40P1 0 genome.wustl.edu 37 17 58066651 58066651 + RNA SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 58066651 58066651 C T SNP TBC1D3P1-DHX40P1 ENST00000587125 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TBC1D3P1-DHX40P1 HGNC ENSG00000267104 28 0 0.00 30 4 11.76 TBC1D9B 0 genome.wustl.edu 37 5 179306764 179306764 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 179306764 179306764 G A SNP TBC1D9B ENST00000356834 human ensembl 74_37 -1 known missense c.1280 p.S427L 0.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9B HGNC ENSG00000197226 tier1 - - 21 0 0.00 11 31 73.81 TBCD 0 genome.wustl.edu 37 17 80895806 80895806 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 80895806 80895806 G A SNP TBCD ENST00000539345 human ensembl 74_37 +1 novel silent c.3366 p.P1122 0.001 NULL pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold - no_errors TBCD HGNC ENSG00000141556 tier1 - - 55 0 0.00 36 34 48.57 TBP 0 genome.wustl.edu 37 6 170871055 170871055 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 170871055 170871055 G A SNP TBP ENST00000230354 human ensembl 74_37 +1 known silent c.231 p.Q77 0.993 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 tier1 rs112928724 - 50 0 0.00 89 8 8.16 TBX10 0 genome.wustl.edu 37 11 67399149 67399149 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 67399149 67399149 A G SNP TBX10 ENST00000335385 human ensembl 74_37 -1 known missense c.1085 p.L362P 0.006 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 TBX10 HGNC ENSG00000167800 tier1 - - 40 0 0.00 180 23 11.33 TCF20 0 genome.wustl.edu 37 22 42608248 42608248 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 22 42608248 42608248 G A SNP TCF20 ENST00000359486 human ensembl 74_37 -1 known missense c.3064 p.R1022W 0.895 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 tier1 - - 39 0 0.00 60 8 11.76 TCF25 0 genome.wustl.edu 37 16 89972642 89972642 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 89972642 89972642 C T SNP TCF25 ENST00000263346 human ensembl 74_37 +1 known missense c.1669 p.R557C 1.000 pfam_TCF25 pfam_TCF25 - no_errors TCF25 HGNC ENSG00000141002 tier1 - - 41 0 0.00 64 18 21.95 TCFL5 0 genome.wustl.edu 37 20 61488860 61488860 + Silent SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 61488860 61488860 A G SNP TCFL5 ENST00000335351 human ensembl 74_37 -1 known silent c.1125 p.A375 0.003 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCFL5 HGNC ENSG00000101190 tier1 - - 39 0 0.00 42 45 51.72 TCHP 0 genome.wustl.edu 37 12 110350842 110350842 + Nonsense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 110350842 110350842 C T SNP TCHP ENST00000312777 human ensembl 74_37 +1 known nonsense c.1099 p.R367* 1.000 NULL NULL - no_errors TCHP HGNC ENSG00000139437 tier1 - - 28 0 0.00 40 14 25.93 TCHP 0 genome.wustl.edu 37 12 110353217 110353217 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 110353217 110353217 C T SNP TCHP ENST00000312777 human ensembl 74_37 +1 known missense c.1330 p.R444C 1.000 NULL NULL - no_errors TCHP HGNC ENSG00000139437 tier1 - - 34 0 0.00 22 24 52.17 TCN2 0 genome.wustl.edu 37 22 31011717 31011717 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 22 31011717 31011717 G A SNP TCN2 ENST00000215838 human ensembl 74_37 +1 known missense c.883 p.V295I 0.042 pfam_Cbl-bd_transpt_euk pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors TCN2 HGNC ENSG00000185339 tier1 - - 28 0 0.00 37 19 33.93 TDRD1 0 genome.wustl.edu 37 10 115986880 115986880 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 115986880 115986880 A - DEL TDRD1 ENST00000251864 human ensembl 74_37 +1 known frame_shift_del c.3225 p.N1077fs 0.327 NULL pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 tier1 48 0 0.00 44 20 31.25 TDRD3 0 genome.wustl.edu 37 13 61109341 61109341 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 13 61109341 61109341 A G SNP TDRD3 ENST00000535286 human ensembl 74_37 +1 known missense c.2092 p.I698V 1.000 pfam_Tudor,pfam_Survival_motor_neuron,smart_Tudor,pfscan_Tudor pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TDRD3 HGNC ENSG00000083544 tier1 - - 41 0 0.00 32 29 47.54 TDRD5 0 genome.wustl.edu 37 1 179638527 179638527 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 179638527 179638527 C T SNP TDRD5 ENST00000444136 human ensembl 74_37 +1 known missense c.2848 p.P950S 0.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD5 HGNC ENSG00000162782 tier1 - - 106 0 0.00 57 36 38.71 TDRD6 0 genome.wustl.edu 37 6 46656650 46656650 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 46656650 46656650 C A SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known missense c.785 p.P262H 1.000 pfam_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 tier1 - - 67 0 0.00 44 19 30.16 TECPR1 0 genome.wustl.edu 37 7 97860399 97860399 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 97860399 97860399 C - DEL TECPR1 ENST00000379795 human ensembl 74_37 -1 known frame_shift_del c.2159 p.S720fs 1.000 smart_Beta-propeller_rpt_TECPR pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin - no_errors TECPR1 HGNC ENSG00000205356 tier1 50 0 0.00 44 35 44.30 TELO2 0 genome.wustl.edu 37 16 1550422 1550422 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 1550422 1550422 C T SNP TELO2 ENST00000262319 human ensembl 74_37 +1 known silent c.1077 p.H359 0.042 NULL pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold - no_errors TELO2 HGNC ENSG00000100726 tier1 - - 22 0 0.00 28 8 22.22 TENM2 0 genome.wustl.edu 37 5 167674984 167674984 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 167674984 167674984 A G SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known missense c.7040 p.Y2347C 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 tier1 - - 34 0 0.00 5 25 83.33 TEP1 0 genome.wustl.edu 37 14 20845785 20845785 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 20845785 20845785 C A SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known missense c.5849 p.G1950V 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 tier1 - - 24 0 0.00 20 21 51.22 TET3 0 genome.wustl.edu 37 2 74326650 74326652 + In_Frame_Del DEL AGA AGA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 74326650 74326652 AGA - DEL TET3 ENST00000409262 human ensembl 74_37 +1 known in_frame_del c.3110_3112 p.K1040in_frame_del 1.000:1.000:1.000 NULL NULL - no_errors TET3 HGNC ENSG00000187605 tier1 26 0 0.00 37 25 40.32 TET3 0 genome.wustl.edu 37 2 74328621 74328621 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 74328621 74328621 C T SNP TET3 ENST00000409262 human ensembl 74_37 +1 known missense c.4301 p.A1434V 1.000 NULL NULL - no_errors TET3 HGNC ENSG00000187605 tier1 - - 47 0 0.00 82 19 18.81 TFAP2A 0 genome.wustl.edu 37 6 10407037 10407038 + Frame_Shift_Del DEL AC AC - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 10407037 10407038 AC - DEL TFAP2A ENST00000379604 human ensembl 74_37 -1 known frame_shift_del c.521_520 p.V174fs 1.000:1.000 NULL pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N - no_errors TFAP2A HGNC ENSG00000137203 tier1 45 0 0.00 32 12 27.27 TFG 0 genome.wustl.edu 37 3 100463493 100463493 + RNA SNP G G C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 100463493 100463493 G C SNP TFG ENST00000481203 human ensembl 74_37 +1 known rna NULL NULL 0.965 - - - no_errors TFG HGNC ENSG00000114354 tier1 - - 31 0 0.00 24 16 40.00 TFRC 0 genome.wustl.edu 37 3 195778941 195778941 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 195778941 195778941 G A SNP TFRC ENST00000360110 human ensembl 74_37 -1 known missense c.2155 p.R719C 0.007 pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors TFRC HGNC ENSG00000072274 tier1 - - 34 0 0.00 71 11 13.41 TGFBR2 0 genome.wustl.edu 37 3 30691872 30691872 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 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 38 0 0.00 17 24 58.54 THAP3 0 genome.wustl.edu 37 1 6694120 6694120 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 6694120 6694120 G A SNP THAP3 ENST00000377627 human ensembl 74_37 +1 known missense c.500 p.R167H 0.000 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP3 HGNC ENSG00000041988 28 0 0.00 26 4 13.33 TIA1 0 genome.wustl.edu 37 2 70442603 70442603 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 70442603 70442603 G A SNP TIA1 ENST00000433529 human ensembl 74_37 -1 known missense c.788 p.A263V 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors TIA1 HGNC ENSG00000116001 tier1 - - 46 0 0.00 32 22 40.74 TLL2 0 genome.wustl.edu 37 10 98170377 98170377 + RNA SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 98170377 98170377 A G SNP TLL2 ENST00000469598 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TLL2 HGNC ENSG00000095587 tier1 - - 29 0 0.00 44 20 31.25 TMC8 0 genome.wustl.edu 37 17 76127679 76127679 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 76127679 76127679 C T SNP TMC8 ENST00000318430 human ensembl 74_37 +1 known missense c.10 p.P4S 0.007 NULL pfam_TMC - no_errors TMC8 HGNC ENSG00000167895 tier1 - - 11 0 0.00 13 4 23.53 TMCO3 0 genome.wustl.edu 37 13 114204129 114204130 + RNA DEL TT TT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 13 114204129 114204130 TT - DEL TMCO3 ENST00000460039 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors TMCO3 HGNC ENSG00000150403 tier1 71 0 0.00 109 45 29.22 TMEM117 0 genome.wustl.edu 37 12 44783452 44783452 + RNA SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 44783452 44783452 T C SNP TMEM117 ENST00000546978 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors TMEM117 HGNC ENSG00000139173 tier1 - - 22 0 0.00 10 15 60.00 TMEM132B 0 genome.wustl.edu 37 12 126138243 126138243 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 126138243 126138243 G A SNP TMEM132B ENST00000299308 human ensembl 74_37 +1 known missense c.2224 p.E742K 0.992 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 tier1 - - 69 0 0.00 46 20 30.30 TMEM132C 0 genome.wustl.edu 37 12 128899918 128899918 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 12 128899918 128899918 G A SNP TMEM132C ENST00000435159 human ensembl 74_37 +1 known missense c.727 p.G243R 0.000 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 tier1 - - 23 0 0.00 29 28 49.12 TMEM173 0 genome.wustl.edu 37 5 138858042 138858042 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 138858042 138858042 C T SNP TMEM173 ENST00000330794 human ensembl 74_37 -1 known missense c.572 p.R191Q 0.000 NULL NULL - no_errors TMEM173 HGNC ENSG00000184584 tier1 - - 49 0 0.00 43 33 43.42 TMEM245 0 genome.wustl.edu 37 9 111849505 111849505 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 111849505 111849505 G A SNP TMEM245 ENST00000374586 human ensembl 74_37 -1 known missense c.1268 p.A423V 1.000 NULL pfam_UPF0118 - no_errors TMEM245 HGNC ENSG00000106771 tier1 - - 32 0 0.00 28 11 28.21 TMEM55B 0 genome.wustl.edu 37 14 20926824 20926824 + Missense_Mutation SNP A A C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 14 20926824 20926824 A C SNP TMEM55B ENST00000398020 human ensembl 74_37 -1 known missense c.749 p.I250S 1.000 pfam_Transmembrane_protein_55A/B pfam_Transmembrane_protein_55A/B - no_errors TMEM55B HGNC ENSG00000165782 tier1 - - 26 0 0.00 54 28 34.15 TMEM67 0 genome.wustl.edu 37 8 94828722 94828723 + RNA INS - - A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 94828722 94828723 - A INS TMEM67 ENST00000463467 human ensembl 74_37 +1 putative rna NULL NULL 0.573:0.614 - - - no_errors TMEM67 HGNC ENSG00000164953 tier1 20 0 0.00 60 10 14.29 TMF1 0 genome.wustl.edu 37 3 69072373 69072373 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 69072373 69072373 C T SNP TMF1 ENST00000543976 human ensembl 74_37 -1 known missense c.3246 p.M1082I 1.000 pfam_TMF_TATA-bd pfam_TMF_TATA-bd,pfam_TMF_DNA-bd - no_errors TMF1 HGNC ENSG00000144747 tier1 - - 53 0 0.00 15 15 50.00 TMPRSS5 0 genome.wustl.edu 37 11 113560988 113560988 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 113560988 113560988 C T SNP TMPRSS5 ENST00000299882 human ensembl 74_37 -1 known missense c.1171 p.A391T 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS5 HGNC ENSG00000166682 tier1 - - 14 0 0.00 7 14 66.67 TNFRSF14 0 genome.wustl.edu 37 1 2493292 2493292 + RNA SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 2493292 2493292 A G SNP TNFRSF14 ENST00000480305 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TNFRSF14 HGNC ENSG00000157873 tier1 - - 42 0 0.00 49 15 23.44 TNKS1BP1 0 genome.wustl.edu 37 11 57087989 57087989 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 57087989 57087989 G A SNP TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known missense c.292 p.P98S 0.876 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 tier1 - - 40 0 0.00 31 50 61.73 TNN 0 genome.wustl.edu 37 1 175097224 175097224 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 175097224 175097224 C T SNP TNN ENST00000239462 human ensembl 74_37 +1 known silent c.3102 p.G1034 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 TNN HGNC ENSG00000120332 tier1 - - 38 0 0.00 34 35 50.72 TNR 0 genome.wustl.edu 37 1 175360447 175360447 + Frame_Shift_Del DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 175360447 175360447 G - DEL TNR ENST00000263525 human ensembl 74_37 -1 known frame_shift_del c.1484 p.P495fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 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 36 0 0.00 21 30 58.82 TNXB 0 genome.wustl.edu 37 6 32032631 32032631 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 32032631 32032631 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.6808 p.R2270C 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 TNXB HGNC ENSG00000168477 27 0 0.00 34 5 12.82 TOMM22 0 genome.wustl.edu 37 22 39078977 39078977 + Silent SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 22 39078977 39078977 A G SNP TOMM22 ENST00000216034 human ensembl 74_37 +1 known silent c.330 p.Q110 0.994 pfam_Tom22 pfam_Tom22 - no_errors TOMM22 HGNC ENSG00000100216 tier1 - - 56 0 0.00 90 24 21.05 TOPAZ1 0 genome.wustl.edu 37 3 44286118 44286119 + Frame_Shift_Ins INS - - AG TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 44286118 44286119 - AG INS TOPAZ1 ENST00000309765 human ensembl 74_37 +1 known frame_shift_ins c.2120_2121 p.E711fs 1.000:0.999 NULL NULL - no_errors TOPAZ1 HGNC ENSG00000173769 tier1 10 0 0.00 6 3 33.33 TOPBP1 0 genome.wustl.edu 37 3 133379900 133379900 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 133379900 133379900 A - DEL TOPBP1 ENST00000260810 human ensembl 74_37 -1 known frame_shift_del c.72 p.F24fs 0.998 NULL pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 tier1 39 0 0.00 45 25 35.71 TP53 0 genome.wustl.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 7577094 7577094 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.844 p.R282W 0.997 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs28934574 - 38 0 0.00 35 25 41.67 TP53 0 genome.wustl.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 7578190 7578190 T C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.659 p.Y220C 0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 27 0 0.00 46 37 44.58 TPO 0 genome.wustl.edu 37 2 1544474 1544474 + Silent SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 1544474 1544474 C A SNP TPO ENST00000329066 human ensembl 74_37 +1 known silent c.2727 p.A909 0.000 NULL pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 tier1 - - 42 0 0.00 41 32 43.84 TPRXL 0 genome.wustl.edu 37 3 14106354 14106354 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 14106354 14106354 C T SNP TPRXL ENST00000326972 human ensembl 74_37 +1 known silent c.678 p.S226 0.580 NULL NULL - no_errors TPRXL HGNC ENSG00000180438 tier1 - - 20 0 0.00 31 9 22.50 TRA2B 0 genome.wustl.edu 37 3 185641779 185641779 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 185641779 185641779 A - DEL TRA2B ENST00000465245 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TRA2B HGNC ENSG00000136527 tier1 13 0 0.00 22 7 24.14 TRABD2B 0 genome.wustl.edu 37 1 48240924 48240924 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 48240924 48240924 G A SNP TRABD2B ENST00000606738 human ensembl 74_37 -1 known missense c.1267 p.R423W 0.989 NULL superfamily_SuperAg_toxin_C - no_errors TRABD2B HGNC ENSG00000269113 tier1 - - 26 0 0.00 44 7 13.73 TRAF6 0 genome.wustl.edu 37 11 36522834 36522834 + Nonsense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 36522834 36522834 G A SNP TRAF6 ENST00000348124 human ensembl 74_37 -1 known nonsense c.232 p.R78* 0.994 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_RING 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 TRAF6 HGNC ENSG00000175104 tier1 - - 39 0 0.00 36 24 40.00 TRAPPC12 0 genome.wustl.edu 37 2 3464042 3464042 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 3464042 3464042 C T SNP TRAPPC12 ENST00000324266 human ensembl 74_37 +1 known missense c.1612 p.R538W 0.977 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TRAPPC12 HGNC ENSG00000171853 tier1 - - 61 0 0.00 99 58 36.94 TRAPPC9 0 genome.wustl.edu 37 8 141294067 141294067 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 141294067 141294067 G A SNP TRAPPC9 ENST00000389328 human ensembl 74_37 -1 known missense c.2329 p.P777S 0.787 pfam_TRAPP_II_complex_Trs120 pfam_TRAPP_II_complex_Trs120 - no_errors TRAPPC9 HGNC ENSG00000167632 tier1 - - 31 0 0.00 73 9 10.98 TRDN 0 genome.wustl.edu 37 6 123759208 123759209 + Frame_Shift_Ins INS - - T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 123759208 123759209 - T INS TRDN ENST00000398178 human ensembl 74_37 -1 known frame_shift_ins c.1051_1050 p.E350fs 1.000:1.000 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 tier1 26 0 0.00 18 8 30.77 TRDN 0 genome.wustl.edu 37 6 123786066 123786066 + Missense_Mutation SNP A A C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 6 123786066 123786066 A C SNP TRDN ENST00000398178 human ensembl 74_37 -1 known missense c.916 p.S306A 0.015 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 tier1 - - 20 0 0.00 28 6 17.65 TRIL 0 genome.wustl.edu 37 7 28996482 28996482 + RNA DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 28996482 28996482 G - DEL TRIL ENST00000322982 human ensembl 74_37 -1 known rna NULL NULL 0.426 - - - no_errors TRIL HGNC ENSG00000176734 tier1 22 0 0.00 66 20 23.26 TRIM25 0 genome.wustl.edu 37 17 54968084 54968085 + RNA DEL AG AG - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 54968084 54968085 AG - DEL TRIM25 ENST00000573108 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.000 - - - no_errors TRIM25 HGNC ENSG00000121060 tier1 41 0 0.00 18 21 53.85 TRIM33 0 genome.wustl.edu 37 1 115007001 115007001 + Missense_Mutation SNP A A C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 115007001 115007001 A C SNP TRIM33 ENST00000358465 human ensembl 74_37 -1 known missense c.536 p.I179R 1.000 smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_RING pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain - no_errors TRIM33 HGNC ENSG00000197323 tier1 - - 18 0 0.00 23 5 17.86 TRIM36 0 genome.wustl.edu 37 5 114499432 114499432 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 114499432 114499432 G A SNP TRIM36 ENST00000282369 human ensembl 74_37 -1 known silent c.81 p.I27 1.000 NULL pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM36 HGNC ENSG00000152503 tier1 - - 27 0 0.00 3 11 78.57 TRIM48 0 genome.wustl.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 55035844 55035844 T C SNP TRIM48 ENST00000417545 human ensembl 74_37 +1 known missense c.574 p.Y192H 0.183 NULL 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 TRIM48 HGNC ENSG00000150244 tier1 - - 104 0 0.00 117 20 14.49 TRIM71 0 genome.wustl.edu 37 3 32932582 32932582 + Missense_Mutation SNP G G C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 32932582 32932582 G C SNP TRIM71 ENST00000383763 human ensembl 74_37 +1 known missense c.1886 p.R629P 1.000 pfam_NHL_repeat,pfscan_NHL_repeat_subgr pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM71 HGNC ENSG00000206557 tier1 - - 8 0 0.00 7 12 63.16 TRIO 0 genome.wustl.edu 37 5 14477004 14477004 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 14477004 14477004 T 0 DEL TRIO ENST00000344204 human ensembl 74_37 +1 known frame_shift_del c.6085 p.L2031fs 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-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 62 0 0.00 147 19 11.45 TSC2 0 genome.wustl.edu 37 16 2131769 2131769 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 2131769 2131769 A G SNP TSC2 ENST00000219476 human ensembl 74_37 +1 known missense c.3784 p.K1262E 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 - - 72 0 0.00 94 21 18.26 TSGA10 0 genome.wustl.edu 37 2 99695219 99695219 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 99695219 99695219 G T SNP TSGA10 ENST00000355053 human ensembl 74_37 -1 known missense c.785 p.T262N 0.999 NULL NULL - no_errors TSGA10 HGNC ENSG00000135951 tier1 - - 41 0 0.00 35 25 41.67 TSPAN1 0 genome.wustl.edu 37 1 46650192 46650192 + RNA DEL G G - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 46650192 46650192 G - DEL TSPAN1 ENST00000482143 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TSPAN1 HGNC ENSG00000117472 tier1 25 0 0.00 45 13 22.41 TSPAN14 0 genome.wustl.edu 37 10 82279271 82279273 + RNA DEL TTT TTT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 82279271 82279273 TTT - DEL TSPAN14 ENST00000265450 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors TSPAN14 HGNC ENSG00000108219 tier1 87 0 0.00 77 9 10.47 TSPEAR 0 genome.wustl.edu 37 21 45947292 45947292 + Silent SNP T T G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 21 45947292 45947292 T G SNP TSPEAR ENST00000323084 human ensembl 74_37 -1 known silent c.1032 p.T344 0.000 pfscan_EAR pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 tier1 - - 34 0 0.00 7 26 78.79 TSPY26P 0 genome.wustl.edu 37 20 30776958 30776958 + RNA SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 30776958 30776958 A G SNP TSPY26P ENST00000565928 human ensembl 74_37 -1 known rna NULL NULL 0.025 - - - no_errors TSPY26P HGNC ENSG00000235217 tier1 - - 9 0 0.00 15 8 33.33 TSPYL6 0 genome.wustl.edu 37 2 54483060 54483060 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 54483060 54483060 C T SNP TSPYL6 ENST00000317802 human ensembl 74_37 -1 known missense c.229 p.A77T 0.003 NULL pfam_NAP_family - no_errors TSPYL6 HGNC ENSG00000178021 tier1 - - 13 0 0.00 45 10 18.18 TTC21B 0 genome.wustl.edu 37 2 166781085 166781085 + Missense_Mutation SNP A A T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 166781085 166781085 A T SNP TTC21B ENST00000243344 human ensembl 74_37 -1 known missense c.1490 p.L497Q 1.000 smart_TPR_repeat smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC ENSG00000123607 tier1 - - 34 0 0.00 39 27 40.91 TTC40 0 genome.wustl.edu 37 10 134682866 134682866 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 134682866 134682866 C T SNP TTC40 ENST00000368586 human ensembl 74_37 -1 putative missense c.4522 p.A1508T 0.001 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 tier1 - - 18 0 0.00 21 12 36.36 TTF1 0 genome.wustl.edu 37 9 135277540 135277541 + Frame_Shift_Ins INS - - T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 135277540 135277541 - T INS TTF1 ENST00000334270 human ensembl 74_37 -1 known frame_shift_ins c.669_668 p.K224fs 0.189:0.184 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 tier1 23 0 0.00 46 13 22.03 TTF1 0 genome.wustl.edu 37 9 135277549 135277549 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 135277549 135277549 C T SNP TTF1 ENST00000334270 human ensembl 74_37 -1 known silent c.660 p.K220 0.320 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 25 0 0.00 47 4 7.84 TTLL12 0 genome.wustl.edu 37 22 43570300 43570300 + Missense_Mutation SNP C C G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 22 43570300 43570300 C G SNP TTLL12 ENST00000216129 human ensembl 74_37 -1 known missense c.1144 p.E382Q 0.888 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL12 HGNC ENSG00000100304 tier1 - - 16 0 0.00 31 21 40.38 TTN 0 genome.wustl.edu 37 2 179445156 179445156 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 179445156 179445156 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.59246 p.T19749I 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 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 - - 33 0 0.00 35 24 40.68 TTN 0 genome.wustl.edu 37 2 179584079 179584079 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 179584079 179584079 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.20306 p.P6769L 1.000 pfam_Ig_I-set,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 - - 47 0 0.00 20 24 54.55 TTN-AS1 0 genome.wustl.edu 37 2 179623635 179623635 + RNA SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 179623635 179623635 T C SNP TTN-AS1 ENST00000610005 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TTN-AS1 HGNC ENSG00000237298 tier1 - - 30 0 0.00 19 13 40.62 TTYH2 0 genome.wustl.edu 37 17 72248476 72248476 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 72248476 72248476 T C SNP TTYH2 ENST00000269346 human ensembl 74_37 +1 known missense c.1220 p.I407T 1.000 pfam_Tweety pfam_Tweety - no_errors TTYH2 HGNC ENSG00000141540 tier1 - - 48 0 0.00 33 28 45.90 TUBA3D 0 genome.wustl.edu 37 2 132236889 132236889 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 132236889 132236889 C T SNP TUBA3D ENST00000321253 human ensembl 74_37 +1 known missense c.235 p.R79C 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Epsilon_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3D HGNC ENSG00000075886 tier1 - - 42 0 0.00 61 10 14.08 TUBGCP6 0 genome.wustl.edu 37 22 50656444 50656444 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 22 50656444 50656444 C - DEL TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known frame_shift_del c.5271 p.P1759fs 0.000 NULL pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 tier1 37 0 0.00 37 17 31.48 TUBGCP6 0 genome.wustl.edu 37 22 50656444 50656444 + Silent SNP C C G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 22 50656444 50656444 C G SNP TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known silent c.5271 p.G1757 0.000 NULL pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 37 0 0.00 33 4 7.41 TVP23A 0 genome.wustl.edu 37 16 10867203 10867203 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 10867203 10867203 A 0 DEL TVP23A ENST00000299866 human ensembl 74_37 -1 known frame_shift_del c.420 p.F140fs 1.000 pfam_DUF846_euk pfam_DUF846_euk - no_errors TVP23A HGNC ENSG00000166676 12 0 0.00 9 4 30.77 TVP23B 0 genome.wustl.edu 37 17 18694321 18694323 + In_Frame_Del DEL TTG TTG - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 TTG TTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 18694321 18694323 TTG - DEL TVP23B ENST00000307767 human ensembl 74_37 +1 known in_frame_del c.208_210 p.L72in_frame_del 1.000:1.000:0.999 pfam_DUF846_euk pfam_DUF846_euk - no_errors TVP23B HGNC ENSG00000171928 tier1 82 0 0.00 84 28 25.00 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 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 - - 42 0 0.00 80 30 27.27 UBA6 0 genome.wustl.edu 37 4 68499110 68499110 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 68499110 68499110 A G SNP UBA6 ENST00000322244 human ensembl 74_37 -1 known missense c.2095 p.C699R 1.000 superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 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 - - 32 0 0.00 32 10 23.81 UBAP1 0 genome.wustl.edu 37 9 34241819 34241819 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 34241819 34241819 C A SNP UBAP1 ENST00000545103 human ensembl 74_37 +1 known missense c.988 p.L330M 1.000 NULL superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP1 HGNC ENSG00000165006 tier1 - - 41 0 0.00 27 28 50.91 UBBP4 0 genome.wustl.edu 37 17 21731488 21731489 + Frame_Shift_Ins INS - - C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 21731488 21731489 - C INS UBBP4 ENST00000578713 human ensembl 74_37 +1 putative frame_shift_ins c.563_564 p.D191fs 1.000:1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBBP4 HGNC ENSG00000263563 tier1 64 0 0.00 69 10 12.66 UBE2E1 0 genome.wustl.edu 37 3 23848848 23848850 + In_Frame_Del DEL AAG AAG - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 23848848 23848850 AAG - DEL UBE2E1 ENST00000306627 human ensembl 74_37 +1 known in_frame_del c.88_90 p.K32in_frame_del 1.000:1.000:1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2E1 HGNC ENSG00000170142 tier1 50 0 0.00 22 19 46.34 UBE2E1 0 genome.wustl.edu 37 3 23848850 23848850 + Missense_Mutation SNP G G C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 23848850 23848850 G C SNP UBE2E1 ENST00000306627 human ensembl 74_37 +1 known missense c.90 p.K30N 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2E1 HGNC ENSG00000170142 50 0 0.00 20 4 16.67 UBE2K 0 genome.wustl.edu 37 4 39780194 39780194 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 39780194 39780194 A - DEL UBE2K ENST00000438068 human ensembl 74_37 +1 known rna NULL NULL 0.844 - - - no_errors UBE2K HGNC ENSG00000078140 tier1 31 0 0.00 15 25 62.50 UBR4 0 genome.wustl.edu 37 1 19441999 19441999 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 19441999 19441999 C A SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.10956 p.Q3652H 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 tier1 - - 28 0 0.00 15 27 64.29 UBR5 0 genome.wustl.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 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 106 0 0.00 204 57 21.84 UCK2 0 genome.wustl.edu 37 1 165877338 165877338 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 165877338 165877338 A - DEL UCK2 ENST00000463772 human ensembl 74_37 +1 known rna NULL NULL 0.018 - - - no_errors UCK2 HGNC ENSG00000143179 tier1 8 0 0.00 9 4 30.77 UGGT1 0 genome.wustl.edu 37 2 128900742 128900742 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 128900742 128900742 G A SNP UGGT1 ENST00000259253 human ensembl 74_37 +1 known silent c.1794 p.P598 0.084 NULL pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC ENSG00000136731 tier1 - - 71 0 0.00 75 28 27.18 UMOD 0 genome.wustl.edu 37 16 20352508 20352508 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 20352508 20352508 G A SNP UMOD ENST00000424589 human ensembl 74_37 -1 known silent c.1581 p.G527 0.002 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom 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 - - 34 0 0.00 37 35 48.61 UNC93B1 0 genome.wustl.edu 37 11 67766770 67766770 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 67766770 67766770 G A SNP UNC93B1 ENST00000227471 human ensembl 74_37 -1 known missense c.560 p.A187V 1.000 pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93B1 HGNC ENSG00000110057 tier1 - - 37 0 0.00 53 20 27.40 UPF1 0 genome.wustl.edu 37 19 18967000 18967000 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 18967000 18967000 C A SNP UPF1 ENST00000599848 human ensembl 74_37 +1 known missense c.1748 p.P583H 1.000 pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase - no_errors UPF1 HGNC ENSG00000005007 tier1 - - 53 0 0.00 21 34 61.82 UPF2 0 genome.wustl.edu 37 10 12070974 12070974 + Silent SNP G G C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 12070974 12070974 G C SNP UPF2 ENST00000356352 human ensembl 74_37 -1 known silent c.915 p.V305 0.998 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC ENSG00000151461 tier1 - - 20 0 0.00 11 15 57.69 UPF3A 0 genome.wustl.edu 37 13 115057211 115057211 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 13 115057211 115057211 A 0 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 38 0 0.00 25 13 34.21 USF2 0 genome.wustl.edu 37 19 35770659 35770659 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 35770659 35770659 A - DEL USF2 ENST00000600341 human ensembl 74_37 +1 known rna NULL NULL 0.089 - - - no_errors USF2 HGNC ENSG00000105698 tier1 30 0 0.00 12 8 40.00 USP24 0 genome.wustl.edu 37 1 55591178 55591178 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 55591178 55591178 C T SNP USP24 ENST00000407756 human ensembl 74_37 -1 known missense c.3295 p.D1099N 1.000 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 tier1 - - 49 0 0.00 29 27 48.21 USP32P1 0 genome.wustl.edu 37 17 16703311 16703312 + RNA INS - - A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 16703311 16703312 0 A INS USP32P1 ENST00000341745 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors USP32P1 HGNC ENSG00000188933 123 0 0.00 193 12 5.85 USP35 0 genome.wustl.edu 37 11 77911710 77911710 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 77911710 77911710 C - DEL USP35 ENST00000529308 human ensembl 74_37 +1 known frame_shift_del c.1053 p.M354fs 0.969 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP35 HGNC ENSG00000118369 tier1 34 0 0.00 40 37 48.05 USP43 0 genome.wustl.edu 37 17 9578294 9578294 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 9578294 9578294 A G SNP USP43 ENST00000285199 human ensembl 74_37 +1 known missense c.827 p.Q276R 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP43 HGNC ENSG00000154914 tier1 - - 64 0 0.00 68 51 42.86 USP54 0 genome.wustl.edu 37 10 75277223 75277225 + In_Frame_Del DEL ATG ATG - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 ATG ATG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 75277223 75277225 ATG - DEL USP54 ENST00000339859 human ensembl 74_37 -1 known in_frame_del c.2961_2959 p.H987in_frame_del 0.001:0.002:0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP54 HGNC ENSG00000166348 tier1 48 0 0.00 66 13 16.46 USP6NL 0 genome.wustl.edu 37 10 11504795 11504795 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 11504795 11504795 G A SNP USP6NL ENST00000379237 human ensembl 74_37 -1 known missense c.2201 p.S734L 0.020 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors USP6NL HGNC ENSG00000148429 tier1 - - 30 0 0.00 9 15 62.50 USP7 0 genome.wustl.edu 37 16 8997206 8997206 + Missense_Mutation SNP T T A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 8997206 8997206 T A SNP USP7 ENST00000344836 human ensembl 74_37 -1 known missense c.1758 p.E586D 1.000 NULL 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 - - 23 0 0.00 22 11 33.33 UTP11L 0 genome.wustl.edu 37 1 38483297 38483297 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 38483297 38483297 T - DEL UTP11L ENST00000488453 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors UTP11L HGNC ENSG00000183520 tier1 28 0 0.00 20 9 31.03 UTP14C 0 genome.wustl.edu 37 13 52604834 52604834 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 13 52604834 52604834 G A SNP UTP14C ENST00000521776 human ensembl 74_37 +1 known missense c.1894 p.E632K 0.982 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14C HGNC ENSG00000253797 tier1 - - 40 0 0.00 36 24 40.00 VAV2 0 genome.wustl.edu 37 9 136726534 136726534 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 136726534 136726534 C T SNP VAV2 ENST00000371850 human ensembl 74_37 -1 known silent c.342 p.R114 0.233 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain - no_errors VAV2 HGNC ENSG00000160293 tier1 - - 23 0 0.00 18 10 35.71 VAX2 0 genome.wustl.edu 37 2 71160174 71160174 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 71160174 71160174 C - DEL VAX2 ENST00000234392 human ensembl 74_37 +1 known frame_shift_del c.713 p.P240fs 0.296 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors VAX2 HGNC ENSG00000116035 tier1 26 0 0.00 50 29 36.71 VCAM1 0 genome.wustl.edu 37 1 101194932 101194932 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 101194932 101194932 C A SNP VCAM1 ENST00000294728 human ensembl 74_37 +1 known missense c.1198 p.L400I 0.170 smart_Ig_sub pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_VCAM-1,prints_ICAM_VCAM_N - no_errors VCAM1 HGNC ENSG00000162692 tier1 - - 39 0 0.00 27 23 46.00 VEGFC 0 genome.wustl.edu 37 4 177632776 177632777 + Frame_Shift_Ins INS - - GA TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 177632776 177632777 - GA INS VEGFC ENST00000280193 human ensembl 74_37 -1 known frame_shift_ins c.581_580 p.Q194fs 1.000:1.000 pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom pfam_PDGF/VEGF_dom,pfam_CXCXC_repeat,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors VEGFC HGNC ENSG00000150630 tier1 45 0 0.00 40 14 25.93 VPS13C 0 genome.wustl.edu 37 15 62202414 62202414 + Nonsense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 15 62202414 62202414 G A SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known nonsense c.8806 p.R2936* 0.038 pfam_VPSAP_dom pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 tier1 rs148074630 - 19 0 0.00 1 16 94.12 VPS9D1 0 genome.wustl.edu 37 16 89777228 89777228 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 89777228 89777228 C T SNP VPS9D1 ENST00000389386 human ensembl 74_37 -1 known missense c.1024 p.A342T 0.005 NULL pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 - no_errors VPS9D1 HGNC ENSG00000075399 tier1 - - 15 0 0.00 16 14 45.16 VSTM2A 0 genome.wustl.edu 37 7 54617880 54617880 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 54617880 54617880 C T SNP VSTM2A ENST00000402026 human ensembl 74_37 +1 known silent c.648 p.F216 0.999 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM2A HGNC ENSG00000170419 12 0 0.00 19 4 17.39 VTI1A 0 genome.wustl.edu 37 10 114220329 114220329 + Missense_Mutation SNP A A C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 114220329 114220329 A C SNP VTI1A ENST00000393077 human ensembl 74_37 +1 known missense c.141 p.E47D 1.000 pfam_Vesicle_trsprt_v-SNARE_N,superfamily_t-SNARE pfam_Vesicle_trsprt_v-SNARE_N,superfamily_t-SNARE,smart_T_SNARE_dom - no_errors VTI1A HGNC ENSG00000151532 tier1 - - 19 0 0.00 16 4 20.00 WAPAL 0 genome.wustl.edu 37 10 88195258 88195260 + RNA DEL GTT GTT - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 GTT GTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 88195258 88195260 GTT - DEL WAPAL ENST00000484070 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000:1.000 - - - no_errors WAPAL HGNC ENSG00000062650 tier1 36 0 0.00 40 11 21.57 WASF3 0 genome.wustl.edu 37 13 27256953 27256953 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 13 27256953 27256953 C T SNP WASF3 ENST00000335327 human ensembl 74_37 +1 known missense c.1193 p.P398L 0.991 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC ENSG00000132970 tier1 - - 12 0 0.00 11 10 47.62 WBP2NL 0 genome.wustl.edu 37 22 42399163 42399166 + RNA DEL AAAA AAAA - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 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 51 0 0.00 41 14 25.45 WDFY3 0 genome.wustl.edu 37 4 85658516 85658516 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 85658516 85658516 C T SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.6578 p.R2193H 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 tier1 - - 23 0 0.00 4 6 60.00 WDR19 0 genome.wustl.edu 37 4 39230210 39230212 + In_Frame_Del DEL AAC AAC - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AAC AAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 39230210 39230212 AAC - DEL WDR19 ENST00000399820 human ensembl 74_37 +1 known in_frame_del c.1882_1884 p.N629in_frame_del 1.000:1.000:1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR19 HGNC ENSG00000157796 tier1 41 0 0.00 76 7 8.43 WDR7 0 genome.wustl.edu 37 18 54348614 54348614 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 18 54348614 54348614 G A SNP WDR7 ENST00000254442 human ensembl 74_37 +1 known missense c.337 p.G113S 1.000 superfamily_Quinonprotein_ADH-like_supfam 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 - - 36 0 0.00 41 12 22.64 WDR81 0 genome.wustl.edu 37 17 1628919 1628919 + Missense_Mutation SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 1628919 1628919 G T SNP WDR81 ENST00000409644 human ensembl 74_37 +1 known missense c.666 p.E222D 0.998 superfamily_Kinase-like_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 tier1 - - 23 0 0.00 17 10 37.04 WHAMMP2 0 genome.wustl.edu 37 15 28996727 28996727 + RNA SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 15 28996727 28996727 G A SNP WHAMMP2 ENST00000508764 human ensembl 74_37 +1 putative rna NULL NULL 0.206 - - - no_errors WHAMMP2 HGNC ENSG00000248334 tier1 - - 23 0 0.00 10 20 66.67 WRN 0 genome.wustl.edu 37 8 30921934 30921934 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 30921934 30921934 C T SNP WRN ENST00000298139 human ensembl 74_37 +1 known silent c.339 p.H113 0.998 pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 tier1 - - 89 0 0.00 70 24 25.53 WWP2 0 genome.wustl.edu 37 16 69820935 69820935 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 69820935 69820935 C T SNP WWP2 ENST00000356003 human ensembl 74_37 +1 known missense c.22 p.R8W 1.000 NULL pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors WWP2 HGNC ENSG00000198373 tier1 rs142617495 - 25 0 0.00 22 16 42.11 XIRP2 0 genome.wustl.edu 37 2 168107566 168107566 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 168107566 168107566 C T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.9664 p.R3222C 0.422 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 12 0 0.00 17 5 22.73 XIST 0 genome.wustl.edu 37 X 73068387 73068387 + RNA SNP C C G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 X 73068387 73068387 C G SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 tier1 - - 12 0 0.00 11 8 42.11 XKR7 0 genome.wustl.edu 37 20 30584487 30584487 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 30584487 30584487 G A SNP XKR7 ENST00000562532 human ensembl 74_37 +1 known missense c.967 p.V323I 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR7 HGNC ENSG00000260903 tier1 - - 45 0 0.00 31 46 59.74 XRRA1 0 genome.wustl.edu 37 11 74656099 74656099 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 74656099 74656099 T - DEL XRRA1 ENST00000524430 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors XRRA1 HGNC ENSG00000166435 tier1 28 0 0.00 22 13 37.14 ZBED4 0 genome.wustl.edu 37 22 50278015 50278017 + In_Frame_Del DEL CTC CTC - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 22 50278015 50278017 CTC - DEL ZBED4 ENST00000216268 human ensembl 74_37 +1 known in_frame_del c.705_707 p.S237in_frame_del 0.000:0.167:0.230 NULL pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED4 HGNC ENSG00000100426 tier1 18 0 0.00 58 7 10.77 ZBTB4 0 genome.wustl.edu 37 17 7369187 7369187 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 17 7369187 7369187 C T SNP ZBTB4 ENST00000311403 human ensembl 74_37 -1 known missense c.934 p.A312T 0.998 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ENSG00000174282 tier1 - - 45 0 0.00 99 25 20.16 ZC3H11A 0 genome.wustl.edu 37 1 203770930 203770930 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 203770930 203770930 T - DEL ZC3H11A ENST00000461980 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ZC3H11A HGNC ENSG00000058673 tier1 97 0 0.00 87 13 13.00 ZC3H18 0 genome.wustl.edu 37 16 88691141 88691141 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 88691141 88691141 C - DEL ZC3H18 ENST00000301011 human ensembl 74_37 +1 known frame_shift_del c.2030 p.R680fs 0.568 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 tier1 19 0 0.00 30 10 25.00 ZC3H3 0 genome.wustl.edu 37 8 144621036 144621037 + Frame_Shift_Ins INS - - G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 8 144621036 144621037 0 G INS ZC3H3 ENST00000262577 human ensembl 74_37 -1 known frame_shift_ins c.501_500 p.R168fs 0.011:0.048 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ENSG00000014164 41 0 0.00 160 20 11.11 ZC3HAV1 0 genome.wustl.edu 37 7 138749694 138749695 + Frame_Shift_Del DEL AG AG - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 138749694 138749695 AG - DEL ZC3HAV1 ENST00000242351 human ensembl 74_37 -1 known frame_shift_del c.1924_1923 p.Y642fs 0.035:0.001 pfscan_WWE-dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors ZC3HAV1 HGNC ENSG00000105939 tier1 32 0 0.00 40 7 14.89 ZDBF2 0 genome.wustl.edu 37 2 207174428 207174428 + Frame_Shift_Del DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 207174428 207174428 A - DEL ZDBF2 ENST00000374423 human ensembl 74_37 +1 known frame_shift_del c.5176 p.K1728fs 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 tier1 15 0 0.00 10 9 47.37 ZDHHC16 0 genome.wustl.edu 37 10 99215505 99215507 + In_Frame_Del DEL AAG AAG - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 99215505 99215507 AAG - DEL ZDHHC16 ENST00000370854 human ensembl 74_37 +1 known in_frame_del c.913_915 p.K306in_frame_del 1.000:0.988:0.995 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC16 HGNC ENSG00000171307 tier1 47 0 0.00 48 12 20.00 ZEB1 0 genome.wustl.edu 37 10 31810288 31810288 + Silent SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 10 31810288 31810288 A G SNP ZEB1 ENST00000361642 human ensembl 74_37 +1 known silent c.2028 p.V676 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 tier1 - - 18 0 0.00 8 7 46.67 ZEB2 0 genome.wustl.edu 37 2 145156467 145156467 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 2 145156467 145156467 G A SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known missense c.2287 p.P763S 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 tier1 - - 44 0 0.00 29 20 40.82 ZFHX3 0 genome.wustl.edu 37 16 72845811 72845811 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 72845811 72845811 G A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.3656 p.P1219L 0.048 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 - - 31 0 0.00 22 18 45.00 ZFP1 0 genome.wustl.edu 37 16 75203737 75203737 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 75203737 75203737 G A SNP ZFP1 ENST00000393430 human ensembl 74_37 +1 known silent c.729 p.P243 0.022 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP1 HGNC ENSG00000184517 tier1 - - 36 0 0.00 25 13 34.21 ZFR 0 genome.wustl.edu 37 5 32404161 32404161 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 32404161 32404161 T 0 DEL ZFR ENST00000265069 human ensembl 74_37 -1 known frame_shift_del c.1074 p.E359fs 1.000 smart_Znf_U1 pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR HGNC ENSG00000056097 108 0 0.00 210 22 9.48 ZMAT1 0 genome.wustl.edu 37 X 101138439 101138439 + RNA DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 X 101138439 101138439 T - DEL ZMAT1 ENST00000494068 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZMAT1 HGNC ENSG00000166432 tier1 16 0 0.00 10 18 64.29 ZMYM4 0 genome.wustl.edu 37 1 35846959 35846960 + Frame_Shift_Ins INS - - A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 35846959 35846960 - A INS ZMYM4 ENST00000314607 human ensembl 74_37 +1 known frame_shift_ins c.1281_1282 p.P430fs 0.987:1.000 NULL pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM4 HGNC ENSG00000146463 tier1 27 0 0.00 32 12 27.27 ZMYND19 0 genome.wustl.edu 37 9 140481423 140481423 + Nonsense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 9 140481423 140481423 G A SNP ZMYND19 ENST00000298585 human ensembl 74_37 -1 known nonsense c.355 p.Q119* 1.000 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND19 HGNC ENSG00000165724 tier1 - - 28 0 0.00 29 23 44.23 ZMYND8 0 genome.wustl.edu 37 20 45867410 45867410 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 20 45867410 45867410 A - DEL ZMYND8 ENST00000468376 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZMYND8 HGNC ENSG00000101040 tier1 31 0 0.00 40 7 14.89 ZNF114 0 genome.wustl.edu 37 19 48789818 48789818 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 48789818 48789818 T - DEL ZNF114 ENST00000315849 human ensembl 74_37 +1 known frame_shift_del c.937 p.Y315fs 0.070 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 ZNF114 HGNC ENSG00000178150 tier1 15 0 0.00 4 7 63.64 ZNF300 0 genome.wustl.edu 37 5 150275828 150275828 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 150275828 150275828 A G SNP ZNF300 ENST00000446148 human ensembl 74_37 -1 known missense c.1021 p.Y341H 0.888 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 ZNF300 HGNC ENSG00000145908 tier1 - - 46 0 0.00 37 11 22.92 ZNF317 0 genome.wustl.edu 37 19 9271738 9271738 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 9271738 9271738 C T SNP ZNF317 ENST00000247956 human ensembl 74_37 +1 known missense c.1417 p.R473C 0.892 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 ZNF317 HGNC ENSG00000130803 21 0 0.00 24 3 11.11 ZNF385D 0 genome.wustl.edu 37 3 22413997 22413997 + RNA SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 3 22413997 22413997 G A SNP ZNF385D ENST00000494108 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors ZNF385D HGNC ENSG00000151789 tier1 - - 34 0 0.00 19 21 52.50 ZNF407 0 genome.wustl.edu 37 18 72343072 72343072 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 18 72343072 72343072 G A SNP ZNF407 ENST00000299687 human ensembl 74_37 +1 known missense c.97 p.G33S 0.060 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 tier1 - - 47 0 0.00 26 18 40.91 ZNF41 0 genome.wustl.edu 37 X 47307383 47307383 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 X 47307383 47307383 C T SNP ZNF41 ENST00000397050 human ensembl 74_37 -1 known missense c.1816 p.V606M 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF41 HGNC ENSG00000147124 tier1 - - 19 0 0.00 7 14 66.67 ZNF608 0 genome.wustl.edu 37 5 123972786 123972786 + RNA DEL A A - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 123972786 123972786 A - DEL ZNF608 ENST00000513985 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors ZNF608 HGNC ENSG00000168916 tier1 27 0 0.00 13 8 38.10 ZNF608 0 genome.wustl.edu 37 5 124036909 124036909 + Silent SNP G G T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 5 124036909 124036909 G T SNP ZNF608 ENST00000306315 human ensembl 74_37 -1 known silent c.960 p.L320 1.000 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 49 0 0.00 56 3 5.08 ZNF629 0 genome.wustl.edu 37 16 30794962 30794962 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 16 30794962 30794962 C T SNP ZNF629 ENST00000262525 human ensembl 74_37 -1 known silent c.687 p.T229 0.999 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF629 HGNC ENSG00000102870 tier1 - - 56 0 0.00 69 33 32.35 ZNF644 0 genome.wustl.edu 37 1 91381965 91381965 + RNA SNP A A T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 91381965 91381965 A T SNP ZNF644 ENST00000467231 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF644 HGNC ENSG00000122482 tier1 - - 31 0 0.00 18 14 43.75 ZNF644 0 genome.wustl.edu 37 1 91382292 91382293 + RNA INS - - A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 91382292 91382293 - A INS ZNF644 ENST00000467231 human ensembl 74_37 -1 known rna NULL NULL 0.373:1.000 - - - no_errors ZNF644 HGNC ENSG00000122482 tier1 21 0 0.00 21 9 30.00 ZNF644 0 genome.wustl.edu 37 1 91403430 91403432 + In_Frame_Del DEL ACG ACG - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 ACG ACG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 1 91403430 91403432 ACG - DEL ZNF644 ENST00000337393 human ensembl 74_37 -1 known in_frame_del c.3300_3298 p.R1100in_frame_del 1.000:1.000:1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 tier1 48 0 0.00 49 6 10.91 ZNF667-AS1 0 genome.wustl.edu 37 19 57006425 57006425 + RNA SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 57006425 57006425 G A SNP ZNF667-AS1 ENST00000299997 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors ZNF667-AS1 HGNC ENSG00000166770 tier1 - - 68 0 0.00 18 39 68.42 ZNF721 0 genome.wustl.edu 37 4 435768 435768 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 4 435768 435768 T C SNP ZNF721 ENST00000511833 human ensembl 74_37 -1 known missense c.2488 p.I830V 0.998 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF721 HGNC ENSG00000182903 tier1 - - 38 0 0.00 34 36 51.43 ZNF733P 0 genome.wustl.edu 37 7 62752759 62752759 + RNA SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 62752759 62752759 T C SNP ZNF733P ENST00000331425 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF733P HGNC ENSG00000185037 tier1 - - 35 0 0.00 22 8 26.67 ZNF746 0 genome.wustl.edu 37 7 149172342 149172342 + Silent SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 149172342 149172342 A G SNP ZNF746 ENST00000458143 human ensembl 74_37 -1 known silent c.1071 p.G357 0.000 NULL pfam_Znf_C2H2,pfam_DUF3669_Znf,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 ZNF746 HGNC ENSG00000181220 tier1 - - 39 0 0.00 60 31 34.07 ZNF804B 0 genome.wustl.edu 37 7 88956723 88956724 + Frame_Shift_Ins INS - - A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 7 88956723 88956724 - A INS ZNF804B ENST00000333190 human ensembl 74_37 +1 known frame_shift_ins c.315_316 p.Q107fs 0.992:1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 tier1 36 0 0.00 28 10 26.32 ZNF845 0 genome.wustl.edu 37 19 53854383 53854383 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 53854383 53854383 A G SNP ZNF845 ENST00000458035 human ensembl 74_37 +1 known missense c.455 p.H152R 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF845 HGNC ENSG00000213799 tier1 - - 61 0 0.00 49 17 25.76 ZNF878 0 genome.wustl.edu 37 19 12157236 12157236 + Frame_Shift_Del DEL T T - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 19 12157236 12157236 T - DEL ZNF878 ENST00000602107 human ensembl 74_37 -1 known frame_shift_del c.279 p.K93fs 0.000 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 ZNF878 HGNC ENSG00000257446 tier1 60 0 0.00 61 14 18.67 ZW10 0 genome.wustl.edu 37 11 113639628 113639628 + Missense_Mutation SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 339fc9a4-1aa8-43cc-9228-0f3b9062fa21 f88aa7fe-2469-421c-8fc0-fc46a9b21611 11 113639628 113639628 G A SNP ZW10 ENST00000200135 human ensembl 74_37 -1 known missense c.167 p.A56V 1.000 pfam_RZZ-complex_Zw10 pfam_RZZ-complex_Zw10 - no_errors ZW10 HGNC ENSG00000086827 tier1 rs201149106 - 29 0 0.00 33 25 43.10