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 ABCB5 0 genome.wustl.edu 37 7 20744391 20744391 + Missense_Mutation SNP G G C TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 7 20744391 20744391 G C SNP ABCB5 ENST00000258738 human ensembl 74_37 +1 known missense c.1047 p.L349F 0.998 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 ABCB5 HGNC ENSG00000004846 tier1 - - 25 0 0.00 52 16 23.53 ACSM3 0 genome.wustl.edu 37 16 20787193 20787193 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 16 20787193 20787193 G T SNP ACSM3 ENST00000289416 human ensembl 74_37 +1 known missense c.252 p.W84C 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM3 HGNC ENSG00000005187 tier1 - - 62 0 0.00 50 5 9.09 ACTN2 0 genome.wustl.edu 37 1 236889280 236889280 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 1 236889280 236889280 G T SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known missense c.496 p.A166S 1.000 pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN2 HGNC ENSG00000077522 tier1 - - 43 0 0.00 37 19 33.93 ALKBH2 0 genome.wustl.edu 37 12 109526157 109526157 + Nonsense_Mutation SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 12 109526157 109526157 C T SNP ALKBH2 ENST00000440112 human ensembl 74_37 -1 novel nonsense c.441 p.W147* 0.996 NULL NULL - no_errors ALKBH2 HGNC ENSG00000189046 tier1 - - 53 0 0.00 14 64 82.05 AMZ2 0 genome.wustl.edu 37 17 66246240 66246240 + RNA SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 17 66246240 66246240 G T SNP AMZ2 ENST00000582430 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors AMZ2 HGNC ENSG00000196704 tier1 - - 22 0 0.00 24 4 14.29 ANK2 0 genome.wustl.edu 37 4 114275857 114275857 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 4 114275857 114275857 G T SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.6083 p.R2028L 0.114 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 tier1 - - 39 0 0.00 16 3 15.79 ANK2 0 genome.wustl.edu 37 4 114253158 114253158 + Silent SNP A A C TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 4 114253158 114253158 A C SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known silent c.3156 p.P1052 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 62 0 0.00 52 4 7.14 ANKH 0 genome.wustl.edu 37 5 14769140 14769140 + Missense_Mutation SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 5 14769140 14769140 G A SNP ANKH ENST00000284268 human ensembl 74_37 -1 known missense c.257 p.A86V 1.000 pfam_ANKH pfam_ANKH - no_errors ANKH HGNC ENSG00000154122 tier1 - - 46 0 0.00 23 32 58.18 ANKRD30A 0 genome.wustl.edu 37 10 37506700 37506700 + Missense_Mutation SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 10 37506700 37506700 G A SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.2993 p.R998K 0.671 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 tier1 - - 51 0 0.00 12 23 65.71 APOC3 0 genome.wustl.edu 37 11 116703479 116703479 + Splice_Site SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 11 116703479 116703479 G T SNP APOC3 ENST00000227667 human ensembl 74_37 +1 known splice_site c.180-1 e3-1 0.456 - - - no_errors APOC3 HGNC ENSG00000110245 tier1 - - 65 0 0.00 75 4 5.06 AR 0 genome.wustl.edu 37 X 66765279 66765279 + Silent SNP C C A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 X 66765279 66765279 C A SNP AR ENST00000374690 human ensembl 74_37 +1 known silent c.291 p.P97 0.194 pfam_Andrgn_rcpt pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 22 0 0.00 73 4 5.19 ARID1A 0 genome.wustl.edu 37 1 27088764 27088764 + Missense_Mutation SNP C C A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 1 27088764 27088764 C A SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known missense c.2373 p.N791K 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 tier1 - - 71 0 0.00 70 49 41.18 ARID4A 0 genome.wustl.edu 37 14 58831520 58831520 + Missense_Mutation SNP G G C TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 14 58831520 58831520 G C SNP ARID4A ENST00000355431 human ensembl 74_37 +1 known missense c.2713 p.E905Q 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ENSG00000032219 tier1 - - 50 0 0.00 39 26 39.39 ATP6V0A2 0 genome.wustl.edu 37 12 124241401 124241401 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 12 124241401 124241401 G T SNP ATP6V0A2 ENST00000330342 human ensembl 74_37 +1 known missense c.2333 p.G778V 1.000 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A2 HGNC ENSG00000185344 49 0 0.00 67 4 5.63 ATP8B4 0 genome.wustl.edu 37 15 50226248 50226248 + Silent SNP G G C TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 15 50226248 50226248 G C SNP ATP8B4 ENST00000284509 human ensembl 74_37 -1 known silent c.1419 p.L473 0.979 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,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 ATP8B4 HGNC ENSG00000104043 tier1 - - 35 0 0.00 31 7 18.42 ATRNL1 0 genome.wustl.edu 37 10 117607467 117607467 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 10 117607467 117607467 G T SNP ATRNL1 ENST00000355044 human ensembl 74_37 +1 known missense c.3983 p.R1328L 0.997 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 - - 48 0 0.00 44 4 8.33 AURKC 0 genome.wustl.edu 37 19 57744878 57744878 + Silent SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 19 57744878 57744878 G A SNP AURKC ENST00000302804 human ensembl 74_37 +1 known silent c.486 p.V162 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 AURKC HGNC ENSG00000105146 tier1 - - 53 0 0.00 35 20 36.36 B4GALNT3 0 genome.wustl.edu 37 12 661313 661313 + Missense_Mutation SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 12 661313 661313 G A SNP B4GALNT3 ENST00000266383 human ensembl 74_37 +1 known missense c.1192 p.A398T 0.037 NULL pfam_PA14,pfam_Chond_GalNAc,smart_PA14 - no_errors B4GALNT3 HGNC ENSG00000139044 tier1 - - 48 0 0.00 49 4 7.55 BAI3 0 genome.wustl.edu 37 6 69653738 69653738 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 6 69653738 69653738 G T SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.1047 p.E349D 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt 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 - - 58 0 0.00 81 5 5.81 BATF 0 genome.wustl.edu 37 14 75991427 75991427 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 14 75991427 75991427 G T SNP BATF ENST00000286639 human ensembl 74_37 +1 known missense c.64 p.D22Y 1.000 prints_Leuzip_Fos pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors BATF HGNC ENSG00000156127 50 0 0.00 72 4 5.26 BCKDHB 0 genome.wustl.edu 37 6 80878608 80878608 + Missense_Mutation SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 6 80878608 80878608 C T SNP BCKDHB ENST00000320393 human ensembl 74_37 +1 known missense c.494 p.A165V 1.000 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors BCKDHB HGNC ENSG00000083123 tier1 - - 101 0 0.00 70 71 50.35 BEX1 0 genome.wustl.edu 37 X 102317850 102317850 + Missense_Mutation SNP T T G TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 X 102317850 102317850 T G SNP BEX1 ENST00000372728 human ensembl 74_37 -1 known missense c.353 p.H118P 0.819 pfam_TF_A-like/BEX-like,pirsf_BEX pfam_TF_A-like/BEX-like,pirsf_BEX - no_errors BEX1 HGNC ENSG00000133169 tier1 - - 41 0 0.00 48 42 46.67 BIK 0 genome.wustl.edu 37 22 43525244 43525245 + In_Frame_Ins INS - - GCT TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 22 43525244 43525245 - GCT INS BIK ENST00000216115 human ensembl 74_37 +1 known in_frame_ins c.416_417 p.143in_frame_insL 0.000:0.001 pfam_Bcl2-int_killer pfam_Bcl2-int_killer - no_errors BIK HGNC ENSG00000100290 tier1 30 0 0.00 28 10 26.32 BRCA2 0 genome.wustl.edu 37 13 32906495 32906495 + Nonsense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 13 32906495 32906495 G T SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known nonsense c.880 p.E294* 0.814 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 - - 110 0 0.00 117 81 40.91 C11orf58 0 genome.wustl.edu 37 11 16769814 16769814 + RNA SNP A A G TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 11 16769814 16769814 A G SNP C11orf58 ENST00000527893 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors C11orf58 HGNC ENSG00000110696 tier1 - - 29 0 0.00 8 14 63.64 C15orf41 0 genome.wustl.edu 37 15 37101143 37101143 + RNA SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 15 37101143 37101143 G A SNP C15orf41 ENST00000565792 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C15orf41 HGNC ENSG00000186073 tier1 - - 28 0 0.00 11 7 38.89 C1orf65 0 genome.wustl.edu 37 1 223567258 223567258 + Silent SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 1 223567258 223567258 G T SNP C1orf65 ENST00000366875 human ensembl 74_37 +1 known silent c.441 p.P147 0.708 NULL NULL - no_errors C1orf65 HGNC ENSG00000178395 17 0 0.00 18 2 10.00 C9orf96 0 genome.wustl.edu 37 9 136260761 136260761 + Missense_Mutation SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 9 136260761 136260761 G A SNP C9orf96 ENST00000371957 human ensembl 74_37 +1 known missense c.737 p.R246H 0.127 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors C9orf96 HGNC ENSG00000198870 tier1 - - 39 0 0.00 29 26 46.43 CABS1 0 genome.wustl.edu 37 4 71201456 71201456 + Missense_Mutation SNP C C G TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 4 71201456 71201456 C G SNP CABS1 ENST00000273936 human ensembl 74_37 +1 known missense c.700 p.L234V 0.000 NULL NULL - no_errors CABS1 HGNC ENSG00000145309 tier1 - - 24 0 0.00 16 7 30.43 CAD 0 genome.wustl.edu 37 2 27459359 27459359 + Missense_Mutation SNP A A G TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 2 27459359 27459359 A G SNP CAD ENST00000264705 human ensembl 74_37 +1 known missense c.4282 p.I1428V 1.000 superfamily_MGS-like_dom,smart_MGS-like_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 tier1 - - 26 0 0.00 19 12 38.71 CADPS 0 genome.wustl.edu 37 3 62535709 62535709 + Missense_Mutation SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 3 62535709 62535709 C T SNP CADPS ENST00000383710 human ensembl 74_37 -1 known missense c.1835 p.R612H 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 60 0 0.00 43 4 8.51 CAPZA1 0 genome.wustl.edu 37 1 113202208 113202208 + RNA DEL C C - TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 1 113202208 113202208 C - DEL CAPZA1 ENST00000466066 human ensembl 74_37 +1 known rna NULL NULL 0.021 - - - no_errors CAPZA1 HGNC ENSG00000116489 tier1 31 0 0.00 29 7 19.44 CARD11 0 genome.wustl.edu 37 7 2968322 2968323 + Frame_Shift_Ins INS - - G TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 7 2968322 2968323 - G INS CARD11 ENST00000396946 human ensembl 74_37 -1 known frame_shift_ins c.1664_1663 p.R555fs 0.395:0.080 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 tier1 51 0 0.00 126 22 14.86 CC2D2B 0 genome.wustl.edu 37 10 97786972 97786972 + Nonsense_Mutation SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 10 97786972 97786972 C T SNP CC2D2B ENST00000371198 human ensembl 74_37 +1 known nonsense c.397 p.R133* 0.998 NULL superfamily_C2_dom - no_errors CC2D2B HGNC ENSG00000188649 tier1 - - 95 0 0.00 21 59 73.75 CCDC106 0 genome.wustl.edu 37 19 56162797 56162797 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 19 56162797 56162797 G T SNP CCDC106 ENST00000308964 human ensembl 74_37 +1 known missense c.462 p.Q154H 1.000 NULL NULL - no_errors CCDC106 HGNC ENSG00000173581 tier1 - - 45 0 0.00 26 18 40.91 CCDC169-SOHLH2 0 genome.wustl.edu 37 13 36748661 36748661 + Missense_Mutation SNP T T A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 13 36748661 36748661 T A SNP CCDC169-SOHLH2 ENST00000511166 human ensembl 74_37 -1 known missense c.1064 p.Q355L 0.221 superfamily_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors CCDC169-SOHLH2 HGNC ENSG00000250709 tier1 - - 68 0 0.00 21 28 57.14 CCDC39 0 genome.wustl.edu 37 3 180334633 180334633 + Nonsense_Mutation SNP A A C TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 3 180334633 180334633 A C SNP CCDC39 ENST00000442201 human ensembl 74_37 -1 known nonsense c.2387 p.L796* 0.853 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC ENSG00000145075 tier1 - - 67 0 0.00 148 37 20.00 CEND1 0 genome.wustl.edu 37 11 788361 788361 + Silent SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 11 788361 788361 G A SNP CEND1 ENST00000330106 human ensembl 74_37 -1 known silent c.216 p.L72 1.000 NULL NULL - no_errors CEND1 HGNC ENSG00000184524 tier1 - - 67 0 0.00 42 50 54.35 CEP128 0 genome.wustl.edu 37 14 81366373 81366373 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 14 81366373 81366373 G T SNP CEP128 ENST00000281129 human ensembl 74_37 -1 known missense c.481 p.L161I 0.977 NULL NULL - no_errors CEP128 HGNC ENSG00000100629 34 0 0.00 52 3 5.45 CHD1 0 genome.wustl.edu 37 5 98194026 98194026 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 5 98194026 98194026 G T SNP CHD1 ENST00000284049 human ensembl 74_37 -1 known missense c.4645 p.H1549N 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC ENSG00000153922 tier1 - - 51 0 0.00 58 4 6.45 CHRNA2 0 genome.wustl.edu 37 8 27320896 27320896 + Missense_Mutation SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 8 27320896 27320896 C T SNP CHRNA2 ENST00000407991 human ensembl 74_37 -1 known missense c.1064 p.R355H 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA2 HGNC ENSG00000120903 tier1 - - 28 0 0.00 3 12 80.00 CLIP1 0 genome.wustl.edu 37 12 122763382 122763382 + Missense_Mutation SNP C C A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 12 122763382 122763382 C A SNP CLIP1 ENST00000540338 human ensembl 74_37 -1 known missense c.3873 p.E1291D 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain - no_errors CLIP1 HGNC ENSG00000130779 tier1 - - 43 0 0.00 4 26 83.87 CLTC 0 genome.wustl.edu 37 17 57758783 57758783 + Missense_Mutation SNP T T C TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 17 57758783 57758783 T C SNP CLTC ENST00000269122 human ensembl 74_37 +1 known missense c.3193 p.F1065L 0.999 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTC HGNC ENSG00000141367 tier1 - - 39 0 0.00 26 25 49.02 COL11A1 0 genome.wustl.edu 37 1 103352542 103352542 + Missense_Mutation SNP C C A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 1 103352542 103352542 C A SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.4715 p.G1572V 0.486 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 tier1 - - 78 0 0.00 50 34 40.48 COL18A1 0 genome.wustl.edu 37 21 46897715 46897715 + Missense_Mutation SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 21 46897715 46897715 C T SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known missense c.2302 p.R768W 0.969 NULL pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 tier1 - - 101 0 0.00 52 44 45.83 COL6A2 0 genome.wustl.edu 37 21 47545377 47545377 + Splice_Site SNP A A C TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 21 47545377 47545377 A C SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known splice_site c.1817-2 e24-2 1.000 - - - no_errors COL6A2 HGNC ENSG00000142173 57 0 0.00 71 4 5.33 COPB1 0 genome.wustl.edu 37 11 14491093 14491093 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 11 14491093 14491093 G T SNP COPB1 ENST00000249923 human ensembl 74_37 -1 known missense c.1754 p.A585D 1.000 superfamily_ARM-type_fold,pirsf_COPB1 pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 - no_errors COPB1 HGNC ENSG00000129083 tier1 - - 36 0 0.00 66 4 5.71 CTDP1 0 genome.wustl.edu 37 18 77473021 77473021 + Missense_Mutation SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 18 77473021 77473021 G A SNP CTDP1 ENST00000299543 human ensembl 74_37 +1 known missense c.913 p.E305K 1.000 pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_FCP1_euk 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 - - 40 0 0.00 31 23 42.59 CYP2B6 0 genome.wustl.edu 37 19 41510046 41510046 + Silent SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 19 41510046 41510046 C T SNP CYP2B6 ENST00000324071 human ensembl 74_37 +1 known silent c.312 p.V104 0.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2A-like - no_errors CYP2B6 HGNC ENSG00000197408 tier1 - - 69 0 0.00 52 44 45.83 DARC 0 genome.wustl.edu 37 1 159176230 159176230 + Missense_Mutation SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 1 159176230 159176230 G A SNP DARC ENST00000368121 human ensembl 74_37 +1 known missense c.1007 p.S336N 0.130 NULL prints_Duffy_chemokine_rcpt - no_errors DARC HGNC ENSG00000213088 tier1 - - 46 0 0.00 60 20 25.00 DARC 0 genome.wustl.edu 37 1 159176231 159176231 + Missense_Mutation SNP C C A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 1 159176231 159176231 C A SNP DARC ENST00000368121 human ensembl 74_37 +1 known missense c.1008 p.S336R 0.305 NULL prints_Duffy_chemokine_rcpt - no_errors DARC HGNC ENSG00000213088 tier1 - - 46 0 0.00 58 20 25.64 DCHS1 0 genome.wustl.edu 37 11 6648069 6648069 + Silent SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 11 6648069 6648069 G T SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known silent c.6201 p.R2067 0.997 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 71 0 0.00 63 4 5.97 DDX5 0 genome.wustl.edu 37 17 62499111 62499111 + Nonsense_Mutation SNP C C A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 17 62499111 62499111 C A SNP DDX5 ENST00000225792 human ensembl 74_37 -1 known nonsense c.916 p.E306* 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX5 HGNC ENSG00000108654 tier1 - - 40 0 0.00 36 40 51.95 DNAH1 0 genome.wustl.edu 37 3 52378535 52378535 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 3 52378535 52378535 G T SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.1316 p.R439I 0.012 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 tier1 - - 63 0 0.00 69 4 5.48 DNAH10 0 genome.wustl.edu 37 12 124419180 124419180 + Nonsense_Mutation SNP C C A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 12 124419180 124419180 C A SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known nonsense c.13136 p.S4379* 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 - - 47 0 0.00 55 4 6.78 DNMT1 0 genome.wustl.edu 37 19 10254519 10254519 + Silent SNP T T C TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 19 10254519 10254519 T C SNP DNMT1 ENST00000359526 human ensembl 74_37 -1 known silent c.3039 p.K1013 0.914 pirsf_DNA_C5-MeTrfase_1_euk,pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 tier1 - - 29 0 0.00 40 32 44.44 DUOX2 0 genome.wustl.edu 37 15 45399110 45399110 + Missense_Mutation SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 15 45399110 45399110 G A SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known missense c.1751 p.P584L 0.817 superfamily_Haem_peroxidase pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 tier1 - - 34 0 0.00 34 25 42.37 E2F8 0 genome.wustl.edu 37 11 19259573 19259573 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 11 19259573 19259573 G T SNP E2F8 ENST00000250024 human ensembl 74_37 -1 known missense c.122 p.P41H 1.000 NULL pfam_E2F_TDP - no_errors E2F8 HGNC ENSG00000129173 tier1 - - 70 0 0.00 75 5 6.17 EFEMP1 0 genome.wustl.edu 37 2 56097965 56097965 + Missense_Mutation SNP T T A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 2 56097965 56097965 T A SNP EFEMP1 ENST00000355426 human ensembl 74_37 -1 known missense c.1210 p.R404W 0.957 NULL pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors EFEMP1 HGNC ENSG00000115380 tier1 - - 40 0 0.00 32 14 30.43 ELP4 0 genome.wustl.edu 37 11 31616430 31616430 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 11 31616430 31616430 G T SNP ELP4 ENST00000395934 human ensembl 74_37 +1 known missense c.495 p.Q165H 0.997 pfam_Elongator_complex_protein_4 pfam_Elongator_complex_protein_4,superfamily_P-loop_NTPase - no_errors ELP4 HGNC ENSG00000109911 tier1 - - 41 0 0.00 34 24 41.38 ENPP3 0 genome.wustl.edu 37 6 132059220 132059220 + Silent SNP A A G TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 6 132059220 132059220 A G SNP ENPP3 ENST00000357639 human ensembl 74_37 +1 known silent c.2217 p.E739 0.997 pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom - no_errors ENPP3 HGNC ENSG00000154269 tier1 - - 90 0 0.00 81 47 36.72 ENSG00000216113 0 genome.wustl.edu 37 8 104863873 104863876 + RNA DEL ACAC ACAC - TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 ACAC ACAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 8 104863873 104863876 ACAC - DEL ENSG00000216113 ENST00000401294 human ensembl 74_37 +1 novel rna NULL NULL 0.000:0.000:0.000:0.000 - - - no_errors AP001572.1 Clone_based_ensembl_gene ENSG00000216113 tier1 17 0 0.00 18 2 10.00 ENSG00000226200 0 genome.wustl.edu 37 10 52390924 52390924 + RNA SNP A A T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 10 52390924 52390924 A T SNP ENSG00000226200 ENST00000443374 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-50E11.3 Clone_based_vega_gene ENSG00000226200 tier1 - - 86 0 0.00 92 115 55.56 ENSG00000241764 0 genome.wustl.edu 37 7 107384387 107384387 + RNA DEL G G - TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 7 107384387 107384387 G - DEL ENSG00000241764 ENST00000609979 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC002467.7 Clone_based_vega_gene ENSG00000241764 tier1 18 0 0.00 10 2 16.67 ENSG00000268318 0 genome.wustl.edu 37 19 51782531 51782531 + RNA SNP T T C TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 19 51782531 51782531 T C SNP ENSG00000268318 ENST00000594261 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-3187F8.11 Clone_based_vega_gene ENSG00000268318 tier1 - - 20 0 0.00 23 11 32.35 EYA4 0 genome.wustl.edu 37 6 133849873 133849873 + Missense_Mutation SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 6 133849873 133849873 C T SNP EYA4 ENST00000355167 human ensembl 74_37 +1 known missense c.1850 p.P617L 1.000 superfamily_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 24 0 0.00 34 2 5.56 FAM111A 0 genome.wustl.edu 37 11 58920030 58920030 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 11 58920030 58920030 G T SNP FAM111A ENST00000361723 human ensembl 74_37 +1 known missense c.889 p.V297L 0.000 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom - no_errors FAM111A HGNC ENSG00000166801 tier1 - - 61 0 0.00 71 4 5.33 FAM170A 0 genome.wustl.edu 37 5 118970255 118970255 + Missense_Mutation SNP T T C TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 5 118970255 118970255 T C SNP FAM170A ENST00000515256 human ensembl 74_37 +1 known missense c.812 p.M271T 0.014 NULL NULL - no_errors FAM170A HGNC ENSG00000164334 tier1 - - 33 0 0.00 26 10 27.78 FAM217A 0 genome.wustl.edu 37 6 4073518 4073518 + Missense_Mutation SNP A A G TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 6 4073518 4073518 A G SNP FAM217A ENST00000274673 human ensembl 74_37 -1 known missense c.293 p.I98T 0.405 NULL NULL - no_errors FAM217A HGNC ENSG00000145975 tier1 - - 60 0 0.00 72 29 28.71 FAM65A 0 genome.wustl.edu 37 16 67577003 67577004 + Frame_Shift_Ins INS - - T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 16 67577003 67577004 - T INS FAM65A ENST00000422602 human ensembl 74_37 +1 known frame_shift_ins c.2374_2375 p.M792fs 0.000:0.000 NULL superfamily_ARM-type_fold,superfamily_HR1_rho-bd - no_errors FAM65A HGNC ENSG00000039523 tier1 83 0 0.00 57 41 41.84 FBXO11 0 genome.wustl.edu 37 2 48035283 48035283 + Nonsense_Mutation SNP C C A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 2 48035283 48035283 C A SNP FBXO11 ENST00000403359 human ensembl 74_37 -1 known nonsense c.2758 p.E920* 1.000 NULL pfam_Znf_N-recognin,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,smart_Znf_N-recognin_met,pfscan_F-box_dom,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO11 HGNC ENSG00000138081 tier1 - - 46 0 0.00 54 4 6.90 FCGBP 0 genome.wustl.edu 37 19 40368702 40368702 + Missense_Mutation SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 19 40368702 40368702 G A SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.12646 p.L4216F 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 tier1 - - 163 0 0.00 205 27 11.59 FER1L6 0 genome.wustl.edu 37 8 124988147 124988147 + Missense_Mutation SNP G G C TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 8 124988147 124988147 G C SNP FER1L6 ENST00000399018 human ensembl 74_37 +1 known missense c.693 p.L231F 1.000 pfam_FerIin-domain pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 tier1 - - 68 0 0.00 49 36 42.35 FFAR3 0 genome.wustl.edu 37 19 35849910 35849910 + Missense_Mutation SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 19 35849910 35849910 G A SNP FFAR3 ENST00000327809 human ensembl 74_37 +1 known missense c.118 p.V40M 0.964 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_orph - no_errors FFAR3 HGNC ENSG00000185897 tier1 - - 83 0 0.00 105 21 16.67 FHAD1 0 genome.wustl.edu 37 1 15654836 15654836 + Missense_Mutation SNP C C A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 1 15654836 15654836 C A SNP FHAD1 ENST00000375999 human ensembl 74_37 +1 known missense c.1621 p.L541I 0.041 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors FHAD1 HGNC ENSG00000142621 53 0 0.00 67 4 5.63 FILIP1 0 genome.wustl.edu 37 6 76063299 76063299 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 6 76063299 76063299 G T SNP FILIP1 ENST00000237172 human ensembl 74_37 -1 known missense c.585 p.N195K 1.000 pfam_Cortactin-binding_p2_N pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 tier1 - - 32 0 0.00 71 4 5.33 FOXG1 0 genome.wustl.edu 37 14 29237215 29237215 + Missense_Mutation SNP C C A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 14 29237215 29237215 C A SNP FOXG1 ENST00000313071 human ensembl 74_37 +1 known missense c.730 p.R244S 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXG1 HGNC ENSG00000176165 tier1 - - 63 0 0.00 14 53 79.10 FRMPD3 0 genome.wustl.edu 37 X 106846480 106846480 + Silent SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 X 106846480 106846480 G A SNP FRMPD3 ENST00000276185 human ensembl 74_37 +1 known silent c.5310 p.Q1770 0.516 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 tier1 - - 42 0 0.00 82 7 7.87 FRY 0 genome.wustl.edu 37 13 32839672 32839672 + Frame_Shift_Del DEL A A - TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 13 32839672 32839672 A - DEL FRY ENST00000380250 human ensembl 74_37 +1 known frame_shift_del c.7865 p.E2622fs 0.997 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 tier1 71 0 0.00 70 49 41.18 FRYL 0 genome.wustl.edu 37 4 48550804 48550804 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 4 48550804 48550804 G T SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.4791 p.N1597K 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 tier1 - - 57 0 0.00 45 4 8.16 FRYL 0 genome.wustl.edu 37 4 48597931 48597931 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 4 48597931 48597931 G T SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.1122 p.S374R 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 72 0 0.00 61 4 6.15 FUT8 0 genome.wustl.edu 37 14 66136012 66136012 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 14 66136012 66136012 G T SNP FUT8 ENST00000360689 human ensembl 74_37 +1 known missense c.649 p.G217C 1.000 pirsf_Alpha1_6FUT_euk superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk - no_errors FUT8 HGNC ENSG00000033170 69 0 0.00 72 4 5.26 GABRA1 0 genome.wustl.edu 37 5 161300308 161300308 + Silent SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 5 161300308 161300308 G A SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known silent c.441 p.R147 0.617 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 tier1 - - 55 0 0.00 60 7 10.45 GABRA1 0 genome.wustl.edu 37 5 161300309 161300309 + Missense_Mutation SNP A A T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 5 161300309 161300309 A T SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known missense c.442 p.I148F 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 tier1 - - 55 0 0.00 59 7 10.61 GDF5 0 genome.wustl.edu 37 20 34021955 34021955 + Missense_Mutation SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 20 34021955 34021955 C T SNP GDF5 ENST00000374369 human ensembl 74_37 -1 known missense c.1258 p.A420T 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF5 HGNC ENSG00000125965 33 0 0.00 71 4 5.33 GGA3 0 genome.wustl.edu 37 17 73235928 73235928 + Missense_Mutation SNP C C A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 17 73235928 73235928 C A SNP GGA3 ENST00000245541 human ensembl 74_37 -1 known missense c.1525 p.G509C 0.788 NULL 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 - - 49 0 0.00 50 4 7.41 GIGYF2 0 genome.wustl.edu 37 2 233671334 233671334 + Silent SNP C C A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 2 233671334 233671334 C A SNP GIGYF2 ENST00000373566 human ensembl 74_37 +1 known silent c.1839 p.P613 0.950 superfamily_GYF pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF2 HGNC ENSG00000204120 tier1 - - 47 0 0.00 68 4 5.56 GLRX3 0 genome.wustl.edu 37 10 131964815 131964815 + Nonsense_Mutation SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 10 131964815 131964815 C T SNP GLRX3 ENST00000331244 human ensembl 74_37 +1 known nonsense c.523 p.Q175* 0.998 pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold pfam_Glutaredoxin,pfam_Thioredoxin_domain,pfam_mRNA_splic_U5,pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,tigrfam_Monothiol_GRX-rel - no_errors GLRX3 HGNC ENSG00000108010 tier1 - - 33 0 0.00 6 11 64.71 GNL2 0 genome.wustl.edu 37 1 38034505 38034505 + Silent SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 1 38034505 38034505 G T SNP GNL2 ENST00000373062 human ensembl 74_37 -1 known silent c.1815 p.A605 0.002 NULL pfam_NOG2_N_dom,pfam_GTP_binding_domain,superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors GNL2 HGNC ENSG00000134697 80 0 0.00 73 4 5.19 GPRASP1 0 genome.wustl.edu 37 X 101909994 101909994 + Missense_Mutation SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 X 101909994 101909994 G A SNP GPRASP1 ENST00000361600 human ensembl 74_37 +1 known missense c.1153 p.A385T 0.002 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 30 0 0.00 58 4 6.45 GRAMD1B 0 genome.wustl.edu 37 11 123480972 123480972 + Silent SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 11 123480972 123480972 G T SNP GRAMD1B ENST00000322282 human ensembl 74_37 +1 known silent c.1416 p.V472 0.997 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1B HGNC ENSG00000023171 tier1 - - 61 0 0.00 36 29 44.62 GRID2 0 genome.wustl.edu 37 4 94376819 94376819 + Missense_Mutation SNP G G C TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 4 94376819 94376819 G C SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known missense c.1552 p.D518H 1.000 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 tier1 - - 22 0 0.00 4 14 77.78 GRM1 0 genome.wustl.edu 37 6 146708117 146708117 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 6 146708117 146708117 G T SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.1694 p.C565F 1.000 pfam_GPCR_3_9-Cys_dom pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 tier1 - - 88 0 0.00 94 18 16.07 GRXCR1 0 genome.wustl.edu 37 4 43022436 43022436 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 4 43022436 43022436 G T SNP GRXCR1 ENST00000399770 human ensembl 74_37 +1 known missense c.693 p.E231D 1.000 NULL pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom - no_errors GRXCR1 HGNC ENSG00000215203 88 0 0.00 51 3 5.56 GTF2F1 0 genome.wustl.edu 37 19 6380639 6380639 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 19 6380639 6380639 G T SNP GTF2F1 ENST00000394456 human ensembl 74_37 -1 known missense c.1294 p.L432M 1.000 pfam_TFIIF-alpha pfam_TFIIF-alpha,superfamily_TFIIF_interaction - no_errors GTF2F1 HGNC ENSG00000125651 tier1 - - 46 0 0.00 49 4 7.55 GZMK 0 genome.wustl.edu 37 5 54320606 54320606 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 5 54320606 54320606 G T SNP GZMK ENST00000231009 human ensembl 74_37 +1 known missense c.183 p.W61C 1.000 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors GZMK HGNC ENSG00000113088 31 0 0.00 31 4 11.43 HECTD4 0 genome.wustl.edu 37 12 112696393 112696393 + Missense_Mutation SNP A A G TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 12 112696393 112696393 A G SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.2489 p.L830S 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 tier1 - - 82 0 0.00 13 64 83.12 HERC2P3 0 genome.wustl.edu 37 15 20663127 20663127 + RNA SNP T T C TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 15 20663127 20663127 T C SNP HERC2P3 ENST00000428453 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P3 HGNC ENSG00000180229 tier1 - - 155 0 0.00 138 69 33.33 HIST1H2AI 0 genome.wustl.edu 37 6 27775992 27775992 + Missense_Mutation SNP C C A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 6 27775992 27775992 C A SNP HIST1H2AI ENST00000358739 human ensembl 74_37 +1 known missense c.5 p.S2Y 0.975 superfamily_Histone-fold pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AI HGNC ENSG00000196747 tier1 - - 66 0 0.00 80 22 21.57 HLCS 0 genome.wustl.edu 37 21 38137447 38137447 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 21 38137447 38137447 G T SNP HLCS ENST00000336648 human ensembl 74_37 -1 known missense c.1546 p.P516T 1.000 pfam_BPL_LipA_LipB,tigrfam_Biotin_CoA_COase_ligase pfam_BPL_LipA_LipB,pfam_BPL_C,tigrfam_Biotin_CoA_COase_ligase - no_errors HLCS HGNC ENSG00000159267 tier1 - - 61 0 0.00 63 4 5.97 HNF1A 0 genome.wustl.edu 37 12 121431999 121431999 + Nonsense_Mutation SNP C C G TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 12 121431999 121431999 C G SNP HNF1A ENST00000257555 human ensembl 74_37 +1 known nonsense c.746 p.S249* 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_HNF1b_C,pfam_HNF-1_N,pfam_HNF1a_C,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HNF1A HGNC ENSG00000135100 tier1 - - 42 0 0.00 29 32 51.61 HNF1A 0 genome.wustl.edu 37 12 121432189 121432189 + Missense_Mutation SNP C C G TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 12 121432189 121432189 C G SNP HNF1A ENST00000538646 human ensembl 74_37 +1 known missense c.749 p.S250C 0.997 NULL pfam_HNF-1_N,superfamily_Lambda_DNA-bd_dom,superfamily_HNF1_dimer_dom - no_errors HNF1A HGNC ENSG00000135100 tier1 - - 40 0 0.00 23 16 41.03 IL10 0 genome.wustl.edu 37 1 206943229 206943229 + Missense_Mutation SNP A A G TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 1 206943229 206943229 A G SNP IL10 ENST00000423557 human ensembl 74_37 -1 known missense c.389 p.L130P 0.920 pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core,smart_IL-10/19/20/24/26_fam,prints_IL-10 pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core,smart_IL-10/19/20/24/26_fam,prints_IL-10 - no_errors IL10 HGNC ENSG00000136634 tier1 - - 43 0 0.00 25 37 59.68 IMPG2 0 genome.wustl.edu 37 3 100963357 100963357 + Silent SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 3 100963357 100963357 C T SNP IMPG2 ENST00000193391 human ensembl 74_37 -1 known silent c.1818 p.G606 0.356 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG2 HGNC ENSG00000081148 tier1 - - 37 0 0.00 68 4 5.56 IP6K2 0 genome.wustl.edu 37 3 48726077 48726077 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 3 48726077 48726077 G T SNP IP6K2 ENST00000328631 human ensembl 74_37 -1 known missense c.910 p.L304M 1.000 pfam_IPK pfam_IPK - no_errors IP6K2 HGNC ENSG00000068745 tier1 - - 74 0 0.00 70 4 5.41 IPO4 0 genome.wustl.edu 37 14 24655975 24655975 + Missense_Mutation SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 14 24655975 24655975 C T SNP IPO4 ENST00000354464 human ensembl 74_37 -1 known missense c.779 p.G260D 0.985 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors IPO4 HGNC ENSG00000196497 tier1 - - 38 0 0.00 62 4 6.06 IRAK3 0 genome.wustl.edu 37 12 66638728 66638728 + Missense_Mutation SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 12 66638728 66638728 G A SNP IRAK3 ENST00000261233 human ensembl 74_37 +1 known missense c.1087 p.V363I 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_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Death_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom - no_errors IRAK3 HGNC ENSG00000090376 tier1 - - 37 0 0.00 33 14 29.79 ITGAL 0 genome.wustl.edu 37 16 30495433 30495433 + Splice_Site SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 16 30495433 30495433 G A SNP ITGAL ENST00000356798 human ensembl 74_37 +1 known splice_site c.856-1 e9-1 1.000 - - - no_errors ITGAL HGNC ENSG00000005844 tier1 - - 49 0 0.00 35 15 30.00 ITGB3 0 genome.wustl.edu 37 17 45364556 45364556 + Missense_Mutation SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 17 45364556 45364556 C T SNP ITGB3 ENST00000559488 human ensembl 74_37 +1 known missense c.898 p.H300Y 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB3 HGNC ENSG00000259207 tier1 - - 52 0 0.00 44 21 32.31 ITIH5 0 genome.wustl.edu 37 10 7611724 7611724 + Missense_Mutation SNP C C A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 10 7611724 7611724 C A SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known missense c.2056 p.V686L 0.998 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 tier1 - - 45 0 0.00 33 15 30.61 ITIH5 0 genome.wustl.edu 37 10 7618752 7618752 + Missense_Mutation SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 10 7618752 7618752 G A SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known missense c.1642 p.R548W 0.763 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 tier1 - - 35 0 0.00 55 4 6.78 JSRP1 0 genome.wustl.edu 37 19 2254447 2254447 + Silent SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 19 2254447 2254447 G A SNP JSRP1 ENST00000300961 human ensembl 74_37 -1 known silent c.144 p.P48 0.027 NULL NULL - no_errors JSRP1 HGNC ENSG00000167476 tier1 - - 73 0 0.00 70 28 28.57 KDM1A 0 genome.wustl.edu 37 1 23408804 23408804 + Missense_Mutation SNP A A G TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 1 23408804 23408804 A G SNP KDM1A ENST00000542151 human ensembl 74_37 +1 known missense c.2390 p.Y797C 1.000 pfam_Amino_oxidase,pirsf_Hist_Lys-spec_deMease pfam_Amino_oxidase,pfam_SWIRM,pfam_FAD-dep_OxRdtase,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM - no_errors KDM1A HGNC ENSG00000004487 tier1 - - 52 0 0.00 37 22 37.29 KDM4C 0 genome.wustl.edu 37 9 6793132 6793132 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 9 6793132 6793132 G T SNP KDM4C ENST00000381309 human ensembl 74_37 +1 known missense c.144 p.K48N 1.000 pfam_TF_JmjN,smart_TF_JmjN,pfscan_TF_JmjN pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 tier1 - - 75 0 0.00 41 5 10.87 KIAA0825 0 genome.wustl.edu 37 5 93856101 93856101 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 5 93856101 93856101 G T SNP KIAA0825 ENST00000427991 human ensembl 74_37 -1 known missense c.822 p.F274L 1.000 NULL NULL - no_errors KIAA0825 HGNC ENSG00000185261 tier1 - - 49 0 0.00 73 4 5.19 KIF14 0 genome.wustl.edu 37 1 200583511 200583511 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 1 200583511 200583511 G T SNP KIF14 ENST00000367350 human ensembl 74_37 -1 known missense c.1390 p.P464T 0.989 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF14 HGNC ENSG00000118193 tier1 - - 46 0 0.00 74 4 5.13 KL 0 genome.wustl.edu 37 13 33635154 33635154 + Silent SNP A A C TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 13 33635154 33635154 A C SNP KL ENST00000380099 human ensembl 74_37 +1 known silent c.1938 p.G646 0.151 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KL HGNC ENSG00000133116 tier1 - - 27 0 0.00 16 9 36.00 KLHL40 0 genome.wustl.edu 37 3 42727547 42727547 + Missense_Mutation SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 3 42727547 42727547 C T SNP KLHL40 ENST00000287777 human ensembl 74_37 +1 known missense c.437 p.A146V 1.000 pfam_BACK,smart_BACK,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 KLHL40 HGNC ENSG00000157119 tier1 - - 30 0 0.00 16 16 50.00 KLHL6 0 genome.wustl.edu 37 3 183209898 183209898 + Nonsense_Mutation SNP G G C TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 3 183209898 183209898 G C SNP KLHL6 ENST00000341319 human ensembl 74_37 -1 known nonsense c.1683 p.Y561* 1.000 pfam_Kelch_1,smart_Kelch_1,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 KLHL6 HGNC ENSG00000172578 tier1 - - 89 0 0.00 144 65 31.10 KMT2B 0 genome.wustl.edu 37 19 36211861 36211861 + Missense_Mutation SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 19 36211861 36211861 C T SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known missense c.1612 p.R538C 1.000 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 tier1 - - 41 0 0.00 24 19 44.19 KRIT1 0 genome.wustl.edu 37 7 91851268 91851268 + Missense_Mutation SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 7 91851268 91851268 G A SNP KRIT1 ENST00000340022 human ensembl 74_37 -1 known missense c.1511 p.P504L 1.000 smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,superfamily_Ankyrin_rpt-contain_dom,superfamily_FERM_central,smart_Ankyrin_rpt,smart_Band_41_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_FERM_domain - no_errors KRIT1 HGNC ENSG00000001631 tier1 - - 92 0 0.00 147 43 22.63 KRT6B 0 genome.wustl.edu 37 12 52841743 52841743 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 12 52841743 52841743 G T SNP KRT6B ENST00000252252 human ensembl 74_37 -1 known missense c.1243 p.R415S 1.000 pfam_IF,superfamily_Prefoldin,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC ENSG00000185479 tier1 - - 81 0 0.00 74 4 5.13 LINC00052 0 genome.wustl.edu 37 15 88121415 88121416 + RNA DEL CA CA - TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 15 88121415 88121416 CA - DEL LINC00052 ENST00000560153 human ensembl 74_37 +1 known rna NULL NULL 0.017:0.015 - - - no_errors LINC00052 HGNC ENSG00000259527 tier1 31 0 0.00 22 10 31.25 LINC00665 0 genome.wustl.edu 37 19 36806598 36806598 + RNA SNP A A G TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 19 36806598 36806598 A G SNP LINC00665 ENST00000427868 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors LINC00665 HGNC ENSG00000232677 tier1 rs200746265 - 21 0 0.00 40 9 18.37 LRFN2 0 genome.wustl.edu 37 6 40360135 40360135 + Frame_Shift_Del DEL G G - TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 6 40360135 40360135 G 0 DEL LRFN2 ENST00000338305 human ensembl 74_37 -1 known frame_shift_del c.1917 p.W640fs 0.998 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN2 HGNC ENSG00000156564 11 0 0.00 4 2 33.33 LRP6 0 genome.wustl.edu 37 12 12317415 12317415 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 12 12317415 12317415 G T SNP LRP6 ENST00000261349 human ensembl 74_37 -1 known missense c.1844 p.P615H 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,smart_EG-like_dom pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP6 HGNC ENSG00000070018 tier1 - - 66 0 0.00 74 5 6.33 MAN1B1 0 genome.wustl.edu 37 9 139998356 139998356 + RNA SNP C C A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 9 139998356 139998356 C A SNP MAN1B1 ENST00000540391 human ensembl 74_37 +1 known rna NULL NULL 0.595 - - - no_errors MAN1B1 HGNC ENSG00000177239 tier1 - - 62 0 0.00 65 4 5.80 MAP1B 0 genome.wustl.edu 37 5 71489749 71489749 + Missense_Mutation SNP C C A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 5 71489749 71489749 C A SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.567 p.F189L 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 77 0 0.00 47 4 7.84 MCM3 0 genome.wustl.edu 37 6 52134018 52134018 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 6 52134018 52134018 G T SNP MCM3 ENST00000596288 human ensembl 74_37 -1 known missense c.1969 p.P657T 1.000 pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_Mcm3 - no_errors MCM3 HGNC ENSG00000112118 tier1 - - 65 0 0.00 66 4 5.71 MDN1 0 genome.wustl.edu 37 6 90384069 90384069 + Frame_Shift_Del DEL A A - TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 6 90384069 90384069 A 0 DEL MDN1 ENST00000369393 human ensembl 74_37 -1 known frame_shift_del c.13001 p.L4334fs 0.011 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 28 0 0.00 49 6 10.91 MED10 0 genome.wustl.edu 37 5 6372690 6372690 + Missense_Mutation SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 5 6372690 6372690 C T SNP MED10 ENST00000255764 human ensembl 74_37 -1 known missense c.334 p.E112K 1.000 pfam_Mediator_Med10 pfam_Mediator_Med10 - no_errors MED10 HGNC ENSG00000133398 tier1 - - 74 0 0.00 96 37 27.82 MGEA5 0 genome.wustl.edu 37 10 103567558 103567558 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 10 103567558 103567558 G T SNP MGEA5 ENST00000361464 human ensembl 74_37 -1 known missense c.581 p.A194D 1.000 pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF,superfamily_Acyl_CoA_acyltransferase - no_errors MGEA5 HGNC ENSG00000198408 99 0 0.00 51 3 5.56 MIPOL1 0 genome.wustl.edu 37 14 37777689 37777689 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 14 37777689 37777689 G T SNP MIPOL1 ENST00000327441 human ensembl 74_37 +1 known missense c.793 p.A265S 0.999 NULL NULL - no_errors MIPOL1 HGNC ENSG00000151338 tier1 - - 38 0 0.00 37 4 9.76 MKI67 0 genome.wustl.edu 37 10 129902137 129902137 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 10 129902137 129902137 G T SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.7967 p.P2656Q 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 49 0 0.00 38 2 5.00 MON2 0 genome.wustl.edu 37 12 62861090 62861090 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 12 62861090 62861090 G T SNP MON2 ENST00000393630 human ensembl 74_37 +1 known missense c.103 p.V35F 1.000 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC ENSG00000061987 tier1 - - 37 0 0.00 39 4 9.30 MOXD2P 0 genome.wustl.edu 37 7 141942747 141942747 + RNA SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 7 141942747 141942747 G T SNP MOXD2P ENST00000477615 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MOXD2P HGNC ENSG00000240268 tier1 - - 29 0 0.00 24 13 35.14 MT-RNR1 0 genome.wustl.edu 37 MT 1142 1142 + RNA SNP A A C TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 MT 1142 1142 A C SNP MT-RNR1 ENST00000389680 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR1 HGNC ENSG00000211459 tier1 - - 11 0 0.00 16 8 33.33 MTIF2 0 genome.wustl.edu 37 2 55476622 55476622 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 2 55476622 55476622 G T SNP MTIF2 ENST00000263629 human ensembl 74_37 -1 known missense c.890 p.P297H 1.000 pfam_EF_GTP-bd_dom,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom - no_errors MTIF2 HGNC ENSG00000085760 tier1 - - 58 0 0.00 74 4 5.13 MYCBPAP 0 genome.wustl.edu 37 17 48597123 48597123 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 17 48597123 48597123 G T SNP MYCBPAP ENST00000323776 human ensembl 74_37 +1 known missense c.1020 p.K340N 1.000 NULL NULL - no_errors MYCBPAP HGNC ENSG00000136449 tier1 - - 39 0 0.00 37 4 9.76 MYH3 0 genome.wustl.edu 37 17 10550536 10550536 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 17 10550536 10550536 G T SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.861 p.F287L 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_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 tier1 - - 52 0 0.00 50 4 7.41 MYOM2 0 genome.wustl.edu 37 8 2046754 2046754 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 8 2046754 2046754 G T SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known missense c.2381 p.G794V 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 tier1 - - 80 0 0.00 47 4 7.84 MYRF 0 genome.wustl.edu 37 11 61545851 61545851 + Splice_Site SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 11 61545851 61545851 G T SNP MYRF ENST00000278836 human ensembl 74_37 +1 known splice_site c.1904-1 e14-1 1.000 - - - no_errors MYRF HGNC ENSG00000124920 73 0 0.00 70 4 5.41 NAA35 0 genome.wustl.edu 37 9 88631475 88631475 + Nonsense_Mutation SNP C C A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 9 88631475 88631475 C A SNP NAA35 ENST00000361671 human ensembl 74_37 +1 known nonsense c.1590 p.Y530* 0.999 NULL pfam_NatC_AcTrfase_Mak10 - no_errors NAA35 HGNC ENSG00000135040 36 0 0.00 29 2 6.45 NAALADL2 0 genome.wustl.edu 37 3 174814895 174814895 + Missense_Mutation SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 3 174814895 174814895 G A SNP NAALADL2 ENST00000454872 human ensembl 74_37 +1 known missense c.359 p.C120Y 0.913 NULL superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC ENSG00000177694 tier1 - - 59 0 0.00 110 14 11.29 NCKAP5 0 genome.wustl.edu 37 2 133618158 133618158 + Missense_Mutation SNP C C A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 2 133618158 133618158 C A SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.714 p.L238F 1.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 50 0 0.00 36 2 5.26 NEBL 0 genome.wustl.edu 37 10 21097518 21097518 + Silent SNP T T A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 10 21097518 21097518 T A SNP NEBL ENST00000377122 human ensembl 74_37 -1 known silent c.2682 p.G894 0.929 NULL pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 tier1 - - 63 0 0.00 29 30 50.85 NEFM 0 genome.wustl.edu 37 8 24776021 24776021 + Nonsense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 8 24776021 24776021 G T SNP NEFM ENST00000221166 human ensembl 74_37 +1 known nonsense c.2653 p.E885* 1.000 NULL pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 44 0 0.00 36 2 5.26 NELL1 0 genome.wustl.edu 37 11 21592425 21592425 + Missense_Mutation SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 11 21592425 21592425 G A SNP NELL1 ENST00000357134 human ensembl 74_37 +1 known missense c.2096 p.G699D 1.000 pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL1 HGNC ENSG00000165973 tier1 - - 82 0 0.00 25 14 35.90 NF1 0 genome.wustl.edu 37 17 29670040 29670040 + Missense_Mutation SNP T T C TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 17 29670040 29670040 T C SNP NF1 ENST00000358273 human ensembl 74_37 +1 known missense c.7076 p.V2359A 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 tier1 - - 38 0 0.00 12 52 80.00 NKAIN3 0 genome.wustl.edu 37 8 63877990 63877990 + RNA SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 8 63877990 63877990 C T SNP NKAIN3 ENST00000519049 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NKAIN3 HGNC ENSG00000185942 tier1 - - 30 0 0.00 24 20 45.45 NKD2 0 genome.wustl.edu 37 5 1038447 1038449 + In_Frame_Del DEL CAC CAC - TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 CAC CAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 5 1038447 1038449 CAC - DEL NKD2 ENST00000296849 human ensembl 74_37 +1 known in_frame_del c.1315_1317 p.H442in_frame_del 1.000:1.000:1.000 NULL pfscan_EF_hand_dom - no_errors NKD2 HGNC ENSG00000145506 tier1 45 0 0.00 37 4 9.76 NLRP3 0 genome.wustl.edu 37 1 247588309 247588309 + Missense_Mutation SNP C C A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 1 247588309 247588309 C A SNP NLRP3 ENST00000336119 human ensembl 74_37 +1 known missense c.1564 p.H522N 1.000 pfscan_NACHT_NTPase 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 NLRP3 HGNC ENSG00000162711 46 0 0.00 30 2 6.25 NLRP4 0 genome.wustl.edu 37 19 56370074 56370074 + Missense_Mutation SNP C C G TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 19 56370074 56370074 C G SNP NLRP4 ENST00000301295 human ensembl 74_37 +1 known missense c.1315 p.L439V 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 tier1 - - 51 0 0.00 44 23 34.33 NLRP8 0 genome.wustl.edu 37 19 56467321 56467321 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 19 56467321 56467321 G T SNP NLRP8 ENST00000291971 human ensembl 74_37 +1 known missense c.1897 p.V633F 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC ENSG00000179709 tier1 - - 97 0 0.00 82 8 8.89 NOS1 0 genome.wustl.edu 37 12 117718602 117718602 + Silent SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 12 117718602 117718602 G A SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known silent c.1452 p.L484 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 tier1 - - 108 0 0.00 80 43 34.96 NOTCH3 0 genome.wustl.edu 37 19 15300201 15300201 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 19 15300201 15300201 G T SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known missense c.1075 p.P359T 1.000 pirsf_Notch,pfam_EG-like_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 tier1 - - 32 0 0.00 31 25 44.64 NPLOC4 0 genome.wustl.edu 37 17 79580153 79580154 + Splice_Site INS - - AAA TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 17 79580153 79580154 - AAA INS NPLOC4 ENST00000571562 human ensembl 74_37 -1 known splice_site_ins c.NULL NULL 0.011:0.010 - - - no_errors NPLOC4 HGNC ENSG00000182446 tier1 16 0 0.00 8 6 42.86 NUFIP1 0 genome.wustl.edu 37 13 45523907 45523907 + Nonsense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 13 45523907 45523907 G T SNP NUFIP1 ENST00000379161 human ensembl 74_37 -1 known nonsense c.1088 p.S363* 0.916 NULL pfam_NUFIP1_cons_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors NUFIP1 HGNC ENSG00000083635 63 0 0.00 66 4 5.71 NYAP2 0 genome.wustl.edu 37 2 226447490 226447490 + Missense_Mutation SNP A A G TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 2 226447490 226447490 A G SNP NYAP2 ENST00000272907 human ensembl 74_37 +1 known missense c.1357 p.R453G 0.999 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 tier1 - - 68 0 0.00 68 5 6.85 OR10Z1 0 genome.wustl.edu 37 1 158576363 158576363 + Silent SNP T T A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 1 158576363 158576363 T A SNP OR10Z1 ENST00000361284 human ensembl 74_37 +1 known silent c.135 p.I45 0.398 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 OR10Z1 HGNC ENSG00000198967 tier1 - - 42 0 0.00 33 15 31.25 OR13A1 0 genome.wustl.edu 37 10 45799654 45799654 + Missense_Mutation SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 10 45799654 45799654 G A SNP OR13A1 ENST00000374401 human ensembl 74_37 -1 known missense c.217 p.L73F 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13A1 HGNC ENSG00000256574 tier1 - - 55 0 0.00 56 76 57.58 OR2F2 0 genome.wustl.edu 37 7 143633228 143633228 + Nonsense_Mutation SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 7 143633228 143633228 G A SNP OR2F2 ENST00000408955 human ensembl 74_37 +1 known nonsense c.903 p.W301* 0.697 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2F2 HGNC ENSG00000221910 33 0 0.00 48 3 5.88 OR6P1 0 genome.wustl.edu 37 1 158532952 158532952 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 1 158532952 158532952 G T SNP OR6P1 ENST00000334632 human ensembl 74_37 -1 known missense c.443 p.S148Y 0.958 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6P1 HGNC ENSG00000186440 tier1 - - 39 0 0.00 62 4 6.06 OR8H1 0 genome.wustl.edu 37 11 56058051 56058051 + Missense_Mutation SNP C C G TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 11 56058051 56058051 C G SNP OR8H1 ENST00000313022 human ensembl 74_37 -1 known missense c.488 p.S163T 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H1 HGNC ENSG00000181693 tier1 - - 35 0 0.00 29 24 44.44 PCNX 0 genome.wustl.edu 37 14 71495426 71495426 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 14 71495426 71495426 G T SNP PCNX ENST00000304743 human ensembl 74_37 +1 known missense c.3476 p.S1159I 1.000 NULL pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 tier1 - - 63 0 0.00 70 4 5.41 PDCD4 0 genome.wustl.edu 37 10 112644975 112644976 + RNA INS - - T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 10 112644975 112644976 - T INS PDCD4 ENST00000481353 human ensembl 74_37 +1 known rna NULL NULL 0.088:0.102 - - - no_errors PDCD4 HGNC ENSG00000150593 tier1 41 0 0.00 33 2 5.71 PDE2A 0 genome.wustl.edu 37 11 72301270 72301270 + Missense_Mutation SNP T T C TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 11 72301270 72301270 T C SNP PDE2A ENST00000334456 human ensembl 74_37 -1 known missense c.722 p.D241G 1.000 smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE2A HGNC ENSG00000186642 tier1 - - 36 0 0.00 30 31 50.82 PDZD11 0 genome.wustl.edu 37 X 69510283 69510283 + RNA SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 X 69510283 69510283 C T SNP PDZD11 ENST00000486461 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PDZD11 HGNC ENSG00000120509 tier1 - - 26 0 0.00 5 65 92.86 PDZD4 0 genome.wustl.edu 37 X 153095904 153095904 + RNA SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 X 153095904 153095904 G A SNP PDZD4 ENST00000480418 human ensembl 74_37 -1 known rna NULL NULL 0.556 - - - no_errors PDZD4 HGNC ENSG00000067840 tier1 - - 10 0 0.00 3 11 78.57 PDZK1IP1 0 genome.wustl.edu 37 1 47653002 47653002 + Nonsense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 1 47653002 47653002 G T SNP PDZK1IP1 ENST00000294338 human ensembl 74_37 -1 known nonsense c.165 p.C55* 1.000 NULL NULL - no_errors PDZK1IP1 HGNC ENSG00000162366 76 0 0.00 95 5 5.00 PEMT 0 genome.wustl.edu 37 17 17412098 17412098 + RNA SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 17 17412098 17412098 G T SNP PEMT ENST00000421096 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors PEMT HGNC ENSG00000133027 tier1 - - 51 0 0.00 65 4 5.80 PENK 0 genome.wustl.edu 37 8 57354245 57354245 + Missense_Mutation SNP C C G TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 8 57354245 57354245 C G SNP PENK ENST00000314922 human ensembl 74_37 -1 known missense c.390 p.E130D 0.000 prints_Proenkphlin_A pfam_Opioid_neupept,prints_Proenkphlin_A,prints_Opioid_neupept - no_errors PENK HGNC ENSG00000181195 tier1 - - 85 0 0.00 62 28 31.11 PHF20L1 0 genome.wustl.edu 37 8 133844636 133844636 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 8 133844636 133844636 G T SNP PHF20L1 ENST00000220847 human ensembl 74_37 +1 known missense c.62 p.S21I 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD - no_errors PHF20L1 HGNC ENSG00000129292 tier1 - - 62 0 0.00 47 4 7.84 PI4KA 0 genome.wustl.edu 37 22 21161744 21161744 + Silent SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 22 21161744 21161744 G T SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known silent c.1074 p.A358 0.999 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 - - 46 0 0.00 57 4 6.56 PIGN 0 genome.wustl.edu 37 18 59806282 59806282 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 18 59806282 59806282 G T SNP PIGN ENST00000357637 human ensembl 74_37 -1 known missense c.1050 p.N350K 1.000 pfam_Sulfatase pfam_GPI_EtnP_transferase_1_C,pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGN HGNC ENSG00000197563 50 0 0.00 69 4 5.48 PIK3R2 0 genome.wustl.edu 37 19 18273933 18273933 + Silent SNP C C G TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 19 18273933 18273933 C G SNP PIK3R2 ENST00000222254 human ensembl 74_37 +1 known silent c.1266 p.L422 0.987 pfscan_SH2,prints_PI3kinase_P85 pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R2 HGNC ENSG00000105647 tier1 - - 48 0 0.00 28 18 39.13 PLB1 0 genome.wustl.edu 37 2 28805347 28805347 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 2 28805347 28805347 G T SNP PLB1 ENST00000422425 human ensembl 74_37 +1 known missense c.1675 p.V559F 0.001 pfam_Lipase_GDSL pfam_Lipase_GDSL - no_errors PLB1 HGNC ENSG00000163803 45 0 0.00 71 4 5.33 PLCL1 0 genome.wustl.edu 37 2 198949560 198949560 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 2 198949560 198949560 G T SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known missense c.1319 p.R440L 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 41 0 0.00 36 2 5.26 PLP2 0 genome.wustl.edu 37 X 49028406 49028406 + Missense_Mutation SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 X 49028406 49028406 C T SNP PLP2 ENST00000376327 human ensembl 74_37 +1 known missense c.59 p.S20L 0.001 NULL pfam_Marvel - no_errors PLP2 HGNC ENSG00000102007 tier1 - - 73 0 0.00 26 69 72.63 POMGNT2 0 genome.wustl.edu 37 3 43121238 43121238 + Nonsense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 3 43121238 43121238 G T SNP POMGNT2 ENST00000344697 human ensembl 74_37 -1 known nonsense c.1686 p.C562* 1.000 superfamily_Fibronectin_type3 pfam_Glycosyltransferase_AER61,superfamily_Fibronectin_type3 - no_errors POMGNT2 HGNC ENSG00000144647 26 0 0.00 50 4 7.41 PRAMEF6 0 genome.wustl.edu 37 1 13001128 13001128 + Silent SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 1 13001128 13001128 C T SNP PRAMEF6 ENST00000355096 human ensembl 74_37 -1 known silent c.555 p.L185 0.002 NULL NULL - no_errors PRAMEF6 HGNC ENSG00000232423 tier1 - - 91 0 0.00 39 18 31.58 PRDM1 0 genome.wustl.edu 37 6 106553478 106553478 + Silent SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 6 106553478 106553478 G A SNP PRDM1 ENST00000369096 human ensembl 74_37 +1 known silent c.1443 p.P481 0.000 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 - - 51 0 0.00 9 25 73.53 PRIM2 0 genome.wustl.edu 37 6 57512478 57512478 + RNA SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 6 57512478 57512478 G A SNP PRIM2 ENST00000389488 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PRIM2 HGNC ENSG00000146143 tier1 - - 110 0 0.00 121 15 11.03 PRKAG1 0 genome.wustl.edu 37 12 49396786 49396786 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 12 49396786 49396786 G T SNP PRKAG1 ENST00000548065 human ensembl 74_37 -1 known missense c.892 p.H298N 1.000 pfam_CBS_dom,smart_CBS_dom pfam_CBS_dom,smart_CBS_dom - no_errors PRKAG1 HGNC ENSG00000181929 43 0 0.00 67 4 5.56 PRPF3 0 genome.wustl.edu 37 1 150315726 150315726 + RNA SNP T T A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 1 150315726 150315726 T A SNP PRPF3 ENST00000493553 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors PRPF3 HGNC ENSG00000117360 tier1 rs149908445 - 35 0 0.00 48 4 7.69 PRR5L 0 genome.wustl.edu 37 11 36397655 36397655 + RNA SNP A A T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 11 36397655 36397655 A T SNP PRR5L ENST00000389693 human ensembl 74_37 +1 known rna NULL NULL 0.025 - - - no_errors PRR5L HGNC ENSG00000135362 tier1 - - 67 0 0.00 90 5 5.26 PTCH1 0 genome.wustl.edu 37 9 98278926 98278926 + Missense_Mutation SNP G G C TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 9 98278926 98278926 G C SNP PTCH1 ENST00000375274 human ensembl 74_37 -1 known missense c.177 p.D59E 0.996 NULL pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 tier1 - - 43 0 0.00 11 37 77.08 PTPRR 0 genome.wustl.edu 37 12 71148030 71148030 + Nonsense_Mutation SNP C C A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 12 71148030 71148030 C A SNP PTPRR ENST00000283228 human ensembl 74_37 -1 known nonsense c.679 p.G227* 1.000 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRR HGNC ENSG00000153233 21 0 0.00 24 2 7.69 QSOX2 0 genome.wustl.edu 37 9 139103122 139103122 + Missense_Mutation SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 9 139103122 139103122 C T SNP QSOX2 ENST00000358701 human ensembl 74_37 -1 known missense c.1537 p.G513S 0.991 pfam_ERV/ALR_sulphydryl_oxidase,superfamily_ERV/ALR_sulphydryl_oxidase pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold - no_errors QSOX2 HGNC ENSG00000165661 tier1 - - 43 0 0.00 37 5 11.90 RASIP1 0 genome.wustl.edu 37 19 49228078 49228078 + Missense_Mutation SNP T T C TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 19 49228078 49228078 T C SNP RASIP1 ENST00000222145 human ensembl 74_37 -1 known missense c.2267 p.E756G 0.999 pfscan_Dilute pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc - no_errors RASIP1 HGNC ENSG00000105538 tier1 - - 45 0 0.00 49 27 35.06 RASSF5 0 genome.wustl.edu 37 1 206760161 206760162 + Frame_Shift_Ins INS - - A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 1 206760161 206760162 - A INS RASSF5 ENST00000355294 human ensembl 74_37 +1 known frame_shift_ins c.1108_1109 p.D370fs 1.000:0.999 pfscan_SARAH_dom pfam_Ras-assoc,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors RASSF5 HGNC ENSG00000136653 tier1 38 0 0.00 31 12 27.91 RASSF5 0 genome.wustl.edu 37 1 206761653 206761653 + RNA SNP T T A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 1 206761653 206761653 T A SNP RASSF5 ENST00000481486 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors RASSF5 HGNC ENSG00000136653 tier1 - - 11 0 0.00 5 4 44.44 RHNO1 0 genome.wustl.edu 37 12 2997454 2997454 + Nonsense_Mutation SNP C C A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 12 2997454 2997454 C A SNP RHNO1 ENST00000489288 human ensembl 74_37 +1 known nonsense c.546 p.C182* 0.000 NULL NULL - no_errors RHNO1 HGNC ENSG00000171792 tier1 - - 62 0 0.00 66 4 5.71 RNY5 0 genome.wustl.edu 37 7 148638591 148638591 + RNA SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 7 148638591 148638591 G T SNP RNY5 ENST00000516501 human ensembl 74_37 +1 known rna NULL NULL 0.018 - - - no_errors RNY5 HGNC ENSG00000252310 tier1 - - 34 0 0.00 50 21 29.58 RSPH6A 0 genome.wustl.edu 37 19 46299318 46299318 + Missense_Mutation SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 19 46299318 46299318 C T SNP RSPH6A ENST00000221538 human ensembl 74_37 -1 known missense c.1963 p.E655K 0.920 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH6A HGNC ENSG00000104941 tier1 rs145529811 - 68 0 0.00 71 60 45.45 SALL3 0 genome.wustl.edu 37 18 76752159 76752159 + Missense_Mutation SNP C C G TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 18 76752159 76752159 C G SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known missense c.168 p.C56W 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 tier1 - - 58 0 0.00 46 24 34.29 SDCCAG3 0 genome.wustl.edu 37 9 139298600 139298600 + Missense_Mutation SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 9 139298600 139298600 C T SNP SDCCAG3 ENST00000357365 human ensembl 74_37 -1 known missense c.1115 p.G372D 0.997 NULL NULL - no_errors SDCCAG3 HGNC ENSG00000165689 tier1 - - 43 0 0.00 16 18 52.94 SECISBP2L 0 genome.wustl.edu 37 15 49319599 49319599 + Missense_Mutation SNP C C G TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 15 49319599 49319599 C G SNP SECISBP2L ENST00000559471 human ensembl 74_37 -1 known missense c.998 p.R333T 1.000 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2L HGNC ENSG00000138593 tier1 - - 71 0 0.00 49 37 43.02 SENP1 0 genome.wustl.edu 37 12 48468515 48468515 + Missense_Mutation SNP T T C TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 12 48468515 48468515 T C SNP SENP1 ENST00000004980 human ensembl 74_37 -1 known missense c.614 p.Q205R 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP1 HGNC ENSG00000079387 tier1 - - 53 0 0.00 61 4 6.06 SEPT4 0 genome.wustl.edu 37 17 56602457 56602457 + Missense_Mutation SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 17 56602457 56602457 G A SNP SEPT4 ENST00000457347 human ensembl 74_37 -1 known missense c.689 p.A230V 1.000 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase - no_errors SEPT4 HGNC ENSG00000108387 25 0 0.00 43 4 8.51 SFT2D2 0 genome.wustl.edu 37 1 168200751 168200751 + Splice_Site SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 1 168200751 168200751 G T SNP SFT2D2 ENST00000271375 human ensembl 74_37 +1 known splice_site c.64-1 e2-1 1.000 - - - no_errors SFT2D2 HGNC ENSG00000213064 tier1 - - 41 0 0.00 46 4 8.00 SHROOM3 0 genome.wustl.edu 37 4 77661188 77661188 + Missense_Mutation SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 4 77661188 77661188 G A SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known missense c.1862 p.R621K 0.083 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 tier1 - - 34 0 0.00 34 11 24.44 SIK1 0 genome.wustl.edu 37 21 44840162 44840162 + Silent SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 21 44840162 44840162 C T SNP SIK1 ENST00000270162 human ensembl 74_37 -1 known silent c.924 p.A308 0.970 pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk 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 36 0 0.00 59 4 6.35 SLC17A2 0 genome.wustl.edu 37 6 25913642 25913642 + Missense_Mutation SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 6 25913642 25913642 G A SNP SLC17A2 ENST00000377850 human ensembl 74_37 -1 known missense c.1340 p.S447F 0.944 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A2 HGNC ENSG00000112337 tier1 - - 56 0 0.00 69 28 28.87 SLC39A8 0 genome.wustl.edu 37 4 103184318 103184318 + Silent SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 4 103184318 103184318 C T SNP SLC39A8 ENST00000356736 human ensembl 74_37 -1 known silent c.1266 p.K422 0.993 pfam_ZIP pfam_ZIP - no_errors SLC39A8 HGNC ENSG00000138821 tier1 - - 67 0 0.00 14 29 67.44 SLC8A1 0 genome.wustl.edu 37 2 40656143 40656143 + Silent SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 2 40656143 40656143 G T SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known silent c.1278 p.A426 0.998 pfam_Calx_beta,smart_Calx_beta,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 38 0 0.00 30 3 9.09 SLITRK3 0 genome.wustl.edu 37 3 164907755 164907755 + Missense_Mutation SNP C C A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 3 164907755 164907755 C A SNP SLITRK3 ENST00000241274 human ensembl 74_37 -1 known missense c.864 p.E288D 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 tier1 - - 75 0 0.00 65 64 49.61 SNRNP70 0 genome.wustl.edu 37 19 49604727 49604727 + Silent SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 19 49604727 49604727 C T SNP SNRNP70 ENST00000598441 human ensembl 74_37 +1 known silent c.474 p.H158 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_U1snRNP70_N,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SNRNP70 HGNC ENSG00000104852 tier1 - - 129 0 0.00 95 68 41.72 SOX7 0 genome.wustl.edu 37 8 10584106 10584106 + Silent SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 8 10584106 10584106 C T SNP SOX7 ENST00000553390 human ensembl 74_37 -1 known silent c.465 p.L155 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,pfscan_HMG_box_dom pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 tier1 - - 37 0 0.00 17 3 15.00 SPDL1 0 genome.wustl.edu 37 5 169015564 169015564 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 5 169015564 169015564 G T SNP SPDL1 ENST00000265295 human ensembl 74_37 +1 known missense c.144 p.M48I 0.996 NULL NULL - no_errors SPDL1 HGNC ENSG00000040275 50 0 0.00 44 3 6.38 SSH2 0 genome.wustl.edu 37 17 27958092 27958092 + Missense_Mutation SNP C C G TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 17 27958092 27958092 C G SNP SSH2 ENST00000269033 human ensembl 74_37 -1 known missense c.4039 p.A1347P 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 tier1 - - 25 0 0.00 28 12 30.00 SSUH2 0 genome.wustl.edu 37 3 8677492 8677492 + Frame_Shift_Del DEL T T - TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 3 8677492 8677492 T - DEL SSUH2 ENST00000544814 human ensembl 74_37 -1 known frame_shift_del c.80 p.E27fs 0.512 NULL superfamily_HSP_DnaJ_Cys-rich_dom - no_errors SSUH2 HGNC ENSG00000125046 tier1 60 0 0.00 28 19 40.43 SSUH2 0 genome.wustl.edu 37 3 8677463 8677463 + Missense_Mutation SNP A A T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 3 8677463 8677463 A T SNP SSUH2 ENST00000544814 human ensembl 74_37 -1 known missense c.109 p.W37R 1.000 NULL superfamily_HSP_DnaJ_Cys-rich_dom - no_errors SSUH2 HGNC ENSG00000125046 61 0 0.00 23 23 50.00 SSUH2 0 genome.wustl.edu 37 3 8677488 8677488 + Silent SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 3 8677488 8677488 G A SNP SSUH2 ENST00000544814 human ensembl 74_37 -1 known silent c.84 p.L28 0.994 NULL superfamily_HSP_DnaJ_Cys-rich_dom - no_errors SSUH2 HGNC ENSG00000125046 60 0 0.00 22 19 45.24 SSUH2 0 genome.wustl.edu 37 3 8677492 8677492 + Missense_Mutation SNP T T C TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 3 8677492 8677492 T C SNP SSUH2 ENST00000544814 human ensembl 74_37 -1 known missense c.80 p.E27G 0.512 NULL superfamily_HSP_DnaJ_Cys-rich_dom - no_errors SSUH2 HGNC ENSG00000125046 60 0 0.00 21 7 14.89 ST7-OT4 0 genome.wustl.edu 37 7 116596724 116596724 + Missense_Mutation SNP T T C TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 7 116596724 116596724 T C SNP ST7-OT4 ENST00000397750 human ensembl 74_37 +1 putative missense c.317 p.L106P 0.001 NULL NULL - no_errors ST7-OT4 HGNC ENSG00000214188 tier1 - - 44 0 0.00 17 26 60.47 STK31 0 genome.wustl.edu 37 7 23872024 23872025 + RNA INS - - TTTG TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 7 23872024 23872025 - TTTG INS STK31 ENST00000405627 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.017 - - - no_errors STK31 HGNC ENSG00000196335 tier1 11 0 0.00 6 7 53.85 STRIP1 0 genome.wustl.edu 37 1 110589335 110589335 + Nonsense_Mutation SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 1 110589335 110589335 C T SNP STRIP1 ENST00000369795 human ensembl 74_37 +1 known nonsense c.1450 p.Q484* 0.963 pfam_DUF3402 pfam_DUF3402,pfam_N1221 - no_errors STRIP1 HGNC ENSG00000143093 tier1 - - 91 0 0.00 80 55 40.74 STXBP3 0 genome.wustl.edu 37 1 109351459 109351459 + Missense_Mutation SNP A A G TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 1 109351459 109351459 A G SNP STXBP3 ENST00000370008 human ensembl 74_37 +1 known missense c.1739 p.N580S 0.995 superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP3 HGNC ENSG00000116266 tier1 - - 82 0 0.00 64 36 36.00 SYT8 0 genome.wustl.edu 37 11 1853118 1853118 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 11 1853118 1853118 G T SNP SYT8 ENST00000535046 human ensembl 74_37 +1 known missense c.436 p.G146W 0.000 NULL NULL - no_errors SYT8 HGNC ENSG00000149043 tier1 - - 61 0 0.00 53 5 8.62 TBC1D12 0 genome.wustl.edu 37 10 96269860 96269860 + Missense_Mutation SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 10 96269860 96269860 C T SNP TBC1D12 ENST00000225235 human ensembl 74_37 +1 known missense c.1613 p.A538V 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D12 HGNC ENSG00000108239 53 0 0.00 52 3 5.45 TBCD 0 genome.wustl.edu 37 17 80847552 80847552 + Missense_Mutation SNP C C A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 17 80847552 80847552 C A SNP TBCD ENST00000355528 human ensembl 74_37 +1 known missense c.1542 p.F514L 1.000 superfamily_ARM-type_fold pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold - no_errors TBCD HGNC ENSG00000141556 tier1 - - 57 0 0.00 75 28 27.18 THAP7-AS1 0 genome.wustl.edu 37 22 21363916 21363916 + RNA SNP A A G TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 22 21363916 21363916 A G SNP THAP7-AS1 ENST00000436079 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors THAP7-AS1 HGNC ENSG00000230513 tier1 - - 21 0 0.00 16 14 46.67 TLE2 0 genome.wustl.edu 37 19 3025060 3025060 + Silent SNP C C G TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 19 3025060 3025060 C G SNP TLE2 ENST00000262953 human ensembl 74_37 -1 known silent c.252 p.L84 0.998 pfam_Groucho/TLE_N pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Groucho_enhance,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TLE2 HGNC ENSG00000065717 tier1 - - 70 0 0.00 57 52 47.71 TMC5 0 genome.wustl.edu 37 16 19501731 19501731 + Missense_Mutation SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 16 19501731 19501731 C T SNP TMC5 ENST00000396229 human ensembl 74_37 +1 known missense c.2588 p.A863V 0.006 NULL pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 tier1 - - 63 0 0.00 59 4 6.35 TNN 0 genome.wustl.edu 37 1 175096207 175096207 + Missense_Mutation SNP G G C TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 1 175096207 175096207 G C SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.3031 p.D1011H 0.969 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 - - 86 0 0.00 54 28 33.33 TNRC18 0 genome.wustl.edu 37 7 5414008 5414008 + Silent SNP C C A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 7 5414008 5414008 C A SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known silent c.2907 p.G969 0.994 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 17 0 0.00 31 5 13.89 TP53 0 genome.wustl.edu 37 17 7578257 7578257 + Nonsense_Mutation SNP C C A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 17 7578257 7578257 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.592 p.E198* 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 - - 86 0 0.00 23 104 81.89 TRIM60 0 genome.wustl.edu 37 4 165962177 165962177 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 4 165962177 165962177 G T SNP TRIM60 ENST00000341062 human ensembl 74_37 +1 known missense c.953 p.R318L 0.000 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM60 HGNC ENSG00000176979 tier1 - - 63 0 0.00 29 4 12.12 TRPM1 0 genome.wustl.edu 37 15 31334235 31334235 + Missense_Mutation SNP T T G TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 15 31334235 31334235 T G SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known missense c.2057 p.K686T 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 tier1 - - 46 0 0.00 42 36 46.15 TRPM2 0 genome.wustl.edu 37 21 45820225 45820225 + Silent SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 21 45820225 45820225 G T SNP TRPM2 ENST00000300482 human ensembl 74_37 +1 known silent c.2292 p.P764 0.699 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 22 0 0.00 19 2 9.52 TSC1 0 genome.wustl.edu 37 9 135782727 135782727 + Missense_Mutation SNP G G C TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 9 135782727 135782727 G C SNP TSC1 ENST00000298552 human ensembl 74_37 -1 known missense c.1294 p.L432V 0.919 pfam_Hamartin pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC ENSG00000165699 tier1 - - 27 0 0.00 38 29 43.28 TTC39B 0 genome.wustl.edu 37 9 15307166 15307166 + Missense_Mutation SNP C C G TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 9 15307166 15307166 C G SNP TTC39B ENST00000512701 human ensembl 74_37 -1 known missense c.156 p.E52D 0.009 NULL pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39B HGNC ENSG00000155158 tier1 - - 66 0 0.00 16 30 65.22 TUBA1B 0 genome.wustl.edu 37 12 49521825 49521825 + Silent SNP A A G TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 12 49521825 49521825 A G SNP TUBA1B ENST00000336023 human ensembl 74_37 -1 known silent c.1272 p.D424 1.000 superfamily_Tub_FtsZ_C,prints_Alpha_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_Beta_tubulin,prints_Delta_tubulin - no_errors TUBA1B HGNC ENSG00000123416 tier1 - - 138 0 0.00 132 37 21.89 TUBA1B 0 genome.wustl.edu 37 12 49521828 49521828 + Silent SNP T T C TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 12 49521828 49521828 T C SNP TUBA1B ENST00000336023 human ensembl 74_37 -1 known silent c.1269 p.E423 1.000 superfamily_Tub_FtsZ_C,prints_Alpha_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_Beta_tubulin,prints_Delta_tubulin - no_errors TUBA1B HGNC ENSG00000123416 tier1 - - 145 0 0.00 129 40 23.67 TUBB2A 0 genome.wustl.edu 37 6 3154692 3154692 + Missense_Mutation SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 6 3154692 3154692 G A SNP TUBB2A ENST00000333628 human ensembl 74_37 -1 known missense c.743 p.A248V 1.000 superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Gamma_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB2A HGNC ENSG00000137267 tier1 - - 16 0 0.00 21 6 22.22 TUBGCP5 0 genome.wustl.edu 37 15 22846926 22846926 + Missense_Mutation SNP G G C TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 15 22846926 22846926 G C SNP TUBGCP5 ENST00000283645 human ensembl 74_37 +1 known missense c.801 p.E267D 1.000 NULL pfam_TUBGCP - no_errors TUBGCP5 HGNC ENSG00000153575 tier1 - - 86 0 0.00 69 36 34.29 TUFM 0 genome.wustl.edu 37 16 28855330 28855330 + Frame_Shift_Del DEL G G - TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 16 28855330 28855330 G - DEL TUFM ENST00000313511 human ensembl 74_37 -1 known frame_shift_del c.1015 p.R339fs 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel,tigrfam_Transl_elong_EFTu/EF1A_bac/org pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFTu/EF1A_bac/org - no_errors TUFM HGNC ENSG00000178952 tier1 119 0 0.00 138 56 28.87 TULP4 0 genome.wustl.edu 37 6 158735106 158735106 + Silent SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 6 158735106 158735106 C T SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known silent c.58 p.L20 1.000 superfamily_WD40_repeat_dom pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 tier1 - - 38 0 0.00 23 14 37.84 UBBP4 0 genome.wustl.edu 37 17 21731158 21731158 + Missense_Mutation SNP C C A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 17 21731158 21731158 C A SNP UBBP4 ENST00000578713 human ensembl 74_37 +1 putative missense c.460 p.Q154K 1.000 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 - - 115 0 0.00 117 17 12.69 UBBP4 0 genome.wustl.edu 37 17 21731342 21731342 + Missense_Mutation SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 17 21731342 21731342 G A SNP UBBP4 ENST00000584755 human ensembl 74_37 +1 novel missense c.644 p.R215K 1.000 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBBP4 HGNC ENSG00000263563 tier1 - - 125 0 0.00 85 20 19.05 UBBP4 0 genome.wustl.edu 37 17 21731357 21731357 + Missense_Mutation SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 17 21731357 21731357 C T SNP UBBP4 ENST00000584755 human ensembl 74_37 +1 novel missense c.659 p.T220I 1.000 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBBP4 HGNC ENSG00000263563 tier1 - - 105 0 0.00 86 29 25.22 UBR1 0 genome.wustl.edu 37 15 43351345 43351345 + Frame_Shift_Del DEL G G - TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 15 43351345 43351345 G - DEL UBR1 ENST00000290650 human ensembl 74_37 -1 known frame_shift_del c.1031 p.P344fs 0.996 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC ENSG00000159459 tier1 28 0 0.00 38 2 5.00 UCHL3 0 genome.wustl.edu 37 13 76179918 76179918 + Silent SNP A A G TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 13 76179918 76179918 A G SNP UCHL3 ENST00000377595 human ensembl 74_37 +1 known silent c.663 p.R221 1.000 NULL pfam_Peptidase_C12,prints_Peptidase_C12 - no_errors UCHL3 HGNC ENSG00000118939 tier1 - - 31 0 0.00 13 25 65.79 UNC5D 0 genome.wustl.edu 37 8 35631843 35631843 + Missense_Mutation SNP C C A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 8 35631843 35631843 C A SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known missense c.2505 p.F835L 1.000 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 58 0 0.00 30 3 9.09 USH2A 0 genome.wustl.edu 37 1 216073502 216073502 + Silent SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 1 216073502 216073502 G A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.7509 p.Y2503 0.990 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 58 0 0.00 27 20 42.55 WDFY3 0 genome.wustl.edu 37 4 85731437 85731437 + Missense_Mutation SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 4 85731437 85731437 C T SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.1948 p.G650R 1.000 superfamily_ARM-type_fold 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 - - 24 0 0.00 21 12 36.36 WNK4 0 genome.wustl.edu 37 17 40940199 40940199 + Frame_Shift_Del DEL G G - TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 17 40940199 40940199 G - DEL WNK4 ENST00000246914 human ensembl 74_37 +1 known frame_shift_del c.1915 p.D640fs 0.994 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK4 HGNC ENSG00000126562 tier1 41 0 0.00 29 2 6.45 WT1 0 genome.wustl.edu 37 11 32439125 32439125 + Missense_Mutation SNP C C A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 11 32439125 32439125 C A SNP WT1 ENST00000332351 human ensembl 74_37 -1 known missense c.948 p.K316N 0.992 pfam_Wilms_tumour_N pfam_Wilms_tumour_N,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Wilms_tumour - no_errors WT1 HGNC ENSG00000184937 tier1 - - 67 0 0.00 65 42 39.25 YEATS2 0 genome.wustl.edu 37 3 183472028 183472029 + Frame_Shift_Ins INS - - T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 3 183472028 183472029 - T INS YEATS2 ENST00000305135 human ensembl 74_37 +1 known frame_shift_ins c.1265_1266 p.G423fs 1.000:1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ENSG00000163872 tier1 58 0 0.00 118 20 14.49 ZAR1L 0 genome.wustl.edu 37 13 32885527 32885527 + Missense_Mutation SNP T T C TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 13 32885527 32885527 T C SNP ZAR1L ENST00000345108 human ensembl 74_37 -1 known missense c.536 p.E179G 0.006 NULL NULL - no_errors ZAR1L HGNC ENSG00000189167 tier1 - - 42 0 0.00 23 21 47.73 ZBED5 0 genome.wustl.edu 37 11 10874919 10874919 + Missense_Mutation SNP T T A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 11 10874919 10874919 T A SNP ZBED5 ENST00000413761 human ensembl 74_37 -1 putative missense c.1574 p.D525V 1.000 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom,pfscan_Znf_BED_prd - no_errors ZBED5 HGNC ENSG00000236287 tier1 - - 33 0 0.00 23 15 39.47 ZBP1 0 genome.wustl.edu 37 20 56179817 56179817 + Missense_Mutation SNP G G A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 20 56179817 56179817 G A SNP ZBP1 ENST00000371173 human ensembl 74_37 -1 known missense c.1102 p.P368S 0.000 NULL pfam_dsRNA_A_deaminase,smart_dsRNA_A_deaminase - no_errors ZBP1 HGNC ENSG00000124256 tier1 - - 56 0 0.00 62 61 49.59 ZBTB5 0 genome.wustl.edu 37 9 37440551 37440551 + Silent SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 9 37440551 37440551 G T SNP ZBTB5 ENST00000307750 human ensembl 74_37 -1 known silent c.1998 p.R666 1.000 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 ZBTB5 HGNC ENSG00000168795 tier1 - - 59 0 0.00 66 4 5.71 ZFHX4 0 genome.wustl.edu 37 8 77618141 77618141 + Silent SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 8 77618141 77618141 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.1818 p.D606 0.013 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 ZFHX4 HGNC ENSG00000091656 35 0 0.00 54 3 5.26 ZNF416 0 genome.wustl.edu 37 19 58084334 58084334 + Missense_Mutation SNP A A G TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 19 58084334 58084334 A G SNP ZNF416 ENST00000196489 human ensembl 74_37 -1 known missense c.938 p.L313P 0.105 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 ZNF416 HGNC ENSG00000083817 71 0 0.00 70 4 5.41 ZNF516 0 genome.wustl.edu 37 18 74154846 74154846 + Silent SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 18 74154846 74154846 C T SNP ZNF516 ENST00000443185 human ensembl 74_37 -1 known silent c.165 p.K55 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF516 HGNC ENSG00000101493 tier1 - - 33 0 0.00 24 7 22.58 ZNF528 0 genome.wustl.edu 37 19 52919235 52919235 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 19 52919235 52919235 G T SNP ZNF528 ENST00000360465 human ensembl 74_37 +1 known missense c.1130 p.G377V 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF528 HGNC ENSG00000167555 41 0 0.00 24 2 7.69 ZNF766 0 genome.wustl.edu 37 19 52794070 52794070 + Silent SNP C C A TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 19 52794070 52794070 C A SNP ZNF766 ENST00000359102 human ensembl 74_37 +1 known silent c.1071 p.L357 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 ZNF766 HGNC ENSG00000196214 tier1 - - 49 0 0.00 58 5 7.94 ZNF804A 0 genome.wustl.edu 37 2 185803054 185803054 + Missense_Mutation SNP G G C TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 2 185803054 185803054 G C SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.2931 p.E977D 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 tier1 - - 51 0 0.00 17 30 63.83 ZNF83 0 genome.wustl.edu 37 19 53116855 53116855 + Silent SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 19 53116855 53116855 C T SNP ZNF83 ENST00000301096 human ensembl 74_37 -1 known silent c.963 p.E321 0.415 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF83 HGNC ENSG00000167766 tier1 rs7247359 - 54 0 0.00 57 7 10.94 ZNF90 0 genome.wustl.edu 37 19 20228938 20228938 + Missense_Mutation SNP A A T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff8ee7e-c79b-4582-a3cd-8f14880cc386 22c94c5a-44cc-4265-95f6-3b6cef088293 19 20228938 20228938 A T SNP ZNF90 ENST00000418063 human ensembl 74_37 +1 known missense c.575 p.K192M 0.583 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 ZNF90 HGNC ENSG00000213988 tier1 - - 67 0 0.00 46 28 37.84