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 ACTL7B 10880 genome.wustl.edu 37 9 111617580 111617580 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 9 111617580 111617580 C T SNP ACTL7B ENST00000374667 human ensembl 70_37 -1 known missense c.631 p.E211K 0.998 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL7B HGNC ACVR2A 92 genome.wustl.edu 37 2 148674878 148674878 + Nonsense_Mutation SNP C C G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 2 148674878 148674878 C G SNP ACVR2A ENST00000241416 human ensembl 70_37 +1 known nonsense c.699 p.Y233* 1.000 pfam_Prot_kinase_cat_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_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt - no_errors ACVR2A HGNC ADAMTS12 81792 genome.wustl.edu 37 5 33576974 33576974 + Missense_Mutation SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 5 33576974 33576974 G C SNP ADAMTS12 ENST00000504830 human ensembl 70_37 -1 known missense c.3157 p.P1053A 0.001 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ADAMTS20 80070 genome.wustl.edu 37 12 43925948 43925948 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 12 43925948 43925948 C T SNP ADAMTS20 ENST00000389420 human ensembl 70_37 -1 known missense c.504 p.M168I 0.988 pfam_Peptidase_M12B_N pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ADAMTSL1 92949 genome.wustl.edu 37 9 18639370 18639370 + Silent SNP G G T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 9 18639370 18639370 G T SNP ADAMTSL1 ENST00000327883 human ensembl 70_37 +1 known silent c.795 p.L265 1.000 pfam_ADAM_spacer1 pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL1 HGNC AIM1 202 genome.wustl.edu 37 6 106992727 106992727 + Missense_Mutation SNP T T C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 6 106992727 106992727 T C SNP AIM1 ENST00000369066 human ensembl 70_37 +1 known missense c.4007 p.I1336T 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1 HGNC ALS2CL 259173 genome.wustl.edu 37 3 46713023 46713023 + Silent SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 3 46713023 46713023 G A SNP ALS2CL ENST00000318962 human ensembl 70_37 -1 known silent c.2736 p.P912 0.003 pfam_VPS9,pfscan_VPS9 pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9 - no_errors ALS2CL HGNC AMFR 267 genome.wustl.edu 37 16 56396745 56396745 + RNA SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 16 56396745 56396745 G A SNP AMFR ENST00000492830 human ensembl 70_37 -1 known rna NULL NULL 0.827 - - - no_errors AMFR HGNC ANKRD12 23253 genome.wustl.edu 37 18 9255252 9255252 + Nonsense_Mutation SNP G G T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 18 9255252 9255252 G T SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known nonsense c.1987 p.E663* 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ANKRD12 23253 genome.wustl.edu 37 18 9255426 9255426 + Missense_Mutation SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 18 9255426 9255426 G C SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.2161 p.E721Q 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC AP5B1 91056 genome.wustl.edu 37 11 65546749 65546749 + Silent SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 11 65546749 65546749 G C SNP AP5B1 ENST00000532090 human ensembl 70_37 -1 novel silent c.1215 p.L405 0.948 NULL NULL - no_errors AP5B1 HGNC APLNR 187 genome.wustl.edu 37 11 57003624 57003624 + Silent SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 11 57003624 57003624 G A SNP APLNR ENST00000257254 human ensembl 70_37 -1 known silent c.855 p.L285 0.997 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_ATII_rcpt - no_errors APLNR HGNC ARHGAP21 57584 genome.wustl.edu 37 10 24874805 24874805 + Silent SNP G G T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 10 24874805 24874805 G T SNP ARHGAP21 ENST00000396432 human ensembl 70_37 -1 known silent c.4413 p.I1471 0.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ASCC1 51008 genome.wustl.edu 37 10 73921387 73921387 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 10 73921387 73921387 G A SNP ASCC1 ENST00000342444 human ensembl 70_37 -1 known missense c.619 p.H207Y 1.000 pfam_Kinase-A_anchor_nucl_local_sig,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_Euk_LigT pfam_Kinase-A_anchor_nucl_local_sig,pfam_KH_dom_type_1,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_Euk_LigT,pfscan_KH_dom_type_1 - no_errors ASCC1 HGNC ASMTL 8623 genome.wustl.edu 37 X 1551173 1551173 + Silent SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 X 1551173 1551173 G A SNP ASMTL ENST00000381317 human ensembl 70_37 -1 known silent c.498 p.S166 0.996 pfam_Maf,tigrfam_Maf pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ASTN2 23245 genome.wustl.edu 37 9 119249769 119249769 + Silent SNP C C G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 9 119249769 119249769 C G SNP ASTN2 ENST00000313400 human ensembl 70_37 -1 known silent c.3366 p.L1122 1.000 superfamily_Fibronectin_type3 pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ATF4 468 genome.wustl.edu 37 22 39917549 39917549 + Silent SNP C C G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 22 39917549 39917549 C G SNP ATF4 ENST00000337304 human ensembl 70_37 +1 known silent c.99 p.L33 1.000 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF4 HGNC BAGE2 85319 genome.wustl.edu 37 21 11060168 11060168 + RNA SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 21 11060168 11060168 G A SNP BAGE2 ENST00000474011 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors BAGE2 HGNC BAZ2A 11176 genome.wustl.edu 37 12 56996536 56996537 + Frame_Shift_Ins INS - - AT TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 12 56996536 56996537 - AT INS BAZ2A ENST00000551812 human ensembl 70_37 -1 known frame_shift_ins c.3391_3390 p.L1130fs 1.000:0.999 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC BIN2 51411 genome.wustl.edu 37 12 51686077 51686077 + Silent SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 12 51686077 51686077 G A SNP BIN2 ENST00000267012 human ensembl 70_37 -1 known silent c.813 p.V271 0.001 NULL pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin - no_errors BIN2 HGNC C17orf76-AS1 125144 genome.wustl.edu 37 17 16344739 16344739 + RNA SNP C C G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 17 16344739 16344739 C G SNP C17orf76-AS1 ENST00000460249 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors C17orf76-AS1 HGNC CCDC152 100129792 genome.wustl.edu 37 5 42796957 42796957 + Missense_Mutation SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 5 42796957 42796957 G C SNP CCDC152 ENST00000361970 human ensembl 70_37 +1 known missense c.457 p.E153Q 1.000 NULL NULL - no_errors CCDC152 HGNC CCDC176 80127 genome.wustl.edu 37 14 74516643 74516643 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 14 74516643 74516643 G A SNP CCDC176 ENST00000394009 human ensembl 70_37 +1 known missense c.1031 p.R344H 0.934 NULL NULL - no_errors CCDC176 HGNC CLEC4F 165530 genome.wustl.edu 37 2 71043160 71043160 + Silent SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 2 71043160 71043160 G A SNP CLEC4F ENST00000272367 human ensembl 70_37 -1 known silent c.1353 p.V451 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4F HGNC CMYA5 202333 genome.wustl.edu 37 5 79032785 79032785 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 5 79032785 79032785 G A SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known missense c.8197 p.E2733K 0.150 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC CNTRL 11064 genome.wustl.edu 37 9 123858773 123858773 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 9 123858773 123858773 C T SNP CNTRL ENST00000238341 human ensembl 70_37 +1 known missense c.553 p.P185S 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC COL4A2 1284 genome.wustl.edu 37 13 110960452 110960452 + Silent SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 13 110960452 110960452 C T SNP COL4A2 ENST00000360467 human ensembl 70_37 +1 known silent c.81 p.L27 0.152 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC COL4A3BP 10087 genome.wustl.edu 37 5 74696108 74696108 + Silent SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 5 74696108 74696108 C T SNP COL4A3BP ENST00000380494 human ensembl 70_37 -1 known silent c.1416 p.K472 1.000 NULL pfam_START_lipid-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_START_lipid-bd,pfscan_Pleckstrin_homology,pfscan_START_lipid-bd - no_errors COL4A3BP HGNC COMMD6 170622 genome.wustl.edu 37 13 76100690 76100690 + RNA SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 13 76100690 76100690 G C SNP COMMD6 ENST00000460675 human ensembl 70_37 -1 known rna NULL NULL 0.019 - - - no_errors COMMD6 HGNC CHDC2 286464 genome.wustl.edu 37 X 36091445 36091445 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 X 36091445 36091445 G A SNP CXorf59 ENST00000313548 human ensembl 70_37 +1 known missense c.380 p.G127E 0.389 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain - no_errors CXorf59 HGNC DCHS1 8642 genome.wustl.edu 37 11 6662559 6662559 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 11 6662559 6662559 C T SNP DCHS1 ENST00000299441 human ensembl 70_37 -1 known missense c.286 p.E96K 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC DENND5B 160518 genome.wustl.edu 37 12 31566465 31566465 + Silent SNP A A G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 12 31566465 31566465 A G SNP DENND5B ENST00000306833 human ensembl 70_37 -1 known silent c.2691 p.D897 0.694 pfam_Run,pfscan_Run pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run - no_errors DENND5B HGNC DLGAP5 9787 genome.wustl.edu 37 14 55650384 55650384 + Missense_Mutation SNP T T C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 14 55650384 55650384 T C SNP DLGAP5 ENST00000247191 human ensembl 70_37 -1 known missense c.326 p.Q109R 1.000 NULL pfam_GKAP - no_errors DLGAP5 HGNC DNAH14 127602 genome.wustl.edu 37 1 225231637 225231637 + Frame_Shift_Del DEL T T - TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 225231637 225231637 T - DEL DNAH14 ENST00000430092 human ensembl 70_37 +1 known frame_shift_del c.1864 p.S623fs 0.637 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase - no_errors DNAH14 HGNC DSCAML1 57453 genome.wustl.edu 37 11 117310107 117310107 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 11 117310107 117310107 C T SNP DSCAML1 ENST00000321322 human ensembl 70_37 -1 known missense c.4199 p.R1400Q 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAML1 HGNC DYNC2H1 79659 genome.wustl.edu 37 11 103026151 103026151 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 11 103026151 103026151 G A SNP DYNC2H1 ENST00000398093 human ensembl 70_37 +1 known missense c.3665 p.G1222E 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC EEA1 8411 genome.wustl.edu 37 12 93285460 93285460 + Missense_Mutation SNP T T A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 12 93285460 93285460 T A SNP EEA1 ENST00000322349 human ensembl 70_37 -1 known missense c.62 p.D21V 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC AGO4 192670 genome.wustl.edu 37 1 36320284 36320284 + RNA SNP T T G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 36320284 36320284 T G SNP EIF2C4 ENST00000496257 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors EIF2C4 HGNC ENSG00000210100 0 genome.wustl.edu 37 MT 4295 4295 + RNA SNP A A G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 MT 4295 4295 A G SNP ENSG00000210100 ENST00000387365 human ensembl 70_37 +1 novel rna NULL NULL NULL - - - no_errors J01415.4 Clone_based_ensembl_gene ENSG00000216166 0 genome.wustl.edu 37 3 183520323 183520324 + RNA INS - - TA TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 3 183520323 183520324 - TA INS ENSG00000216166 ENST00000401347 human ensembl 70_37 -1 novel rna NULL NULL 0.000:0.000 - - - no_errors AC131160.1 Clone_based_ensembl_gene ENSG00000222022 0 genome.wustl.edu 37 2 238330215 238330215 + Missense_Mutation SNP T T C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 2 238330215 238330215 T C SNP ENSG00000222022 ENST00000409162 human ensembl 70_37 -1 putative missense c.289 p.T97A 0.001 NULL NULL - no_errors AC112721.1 Clone_based_vega_gene ENSG00000225411 0 genome.wustl.edu 37 9 68401327 68401327 + RNA SNP T T A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 9 68401327 68401327 T A SNP ENSG00000225411 ENST00000417843 human ensembl 70_37 -1 known rna NULL NULL 0.148 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225946 0 genome.wustl.edu 37 7 100608197 100608198 + RNA INS - - GGG TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 7 100608197 100608198 - GGG INS ENSG00000225946 ENST00000420080 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-395B7.2 Clone_based_vega_gene ENSG00000230159 0 genome.wustl.edu 37 X 115827973 115827973 + RNA SNP A A G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 X 115827973 115827973 A G SNP ENSG00000230159 ENST00000446495 human ensembl 70_37 -1 known rna NULL NULL 0.032 - - - no_errors RP11-232D9.3 Clone_based_vega_gene ENSG00000231183 0 genome.wustl.edu 37 7 76532191 76532191 + RNA SNP T T G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 7 76532191 76532191 T G SNP ENSG00000231183 ENST00000472463 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors AC007003.1 Clone_based_vega_gene ENSG00000233577 0 genome.wustl.edu 37 22 25678975 25678975 + RNA SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 22 25678975 25678975 G C SNP ENSG00000233577 ENST00000444383 human ensembl 70_37 -1 putative rna NULL NULL 0.983 - - - no_errors RP3-462D8.2 Clone_based_vega_gene ENSG00000237452 0 genome.wustl.edu 37 19 46238634 46238634 + Splice_Site SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 19 46238634 46238634 G A SNP ENSG00000237452 ENST00000457052 human ensembl 70_37 +1 putative splice_site c.1-1 e1-1 1.000 - - - no_errors AC074212.3 Clone_based_vega_gene ENSG00000242444 0 genome.wustl.edu 37 12 4219339 4219339 + RNA SNP G G T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 12 4219339 4219339 G T SNP ENSG00000242444 ENST00000393388 human ensembl 70_37 -1 putative rna NULL NULL 0.475 - - - no_errors RP11-320N7.1 Clone_based_vega_gene ENSG00000260179 0 genome.wustl.edu 37 1 1185370 1185371 + RNA INS - - GA TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 1185370 1185371 - GA INS ENSG00000260179 ENST00000565563 human ensembl 70_37 -1 known rna NULL NULL 0.674:0.752 - - - no_errors RP5-902P8.12 Clone_based_vega_gene ENSG00000260518 0 genome.wustl.edu 37 16 33497306 33497306 + RNA SNP T T C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 16 33497306 33497306 T C SNP ENSG00000260518 ENST00000565156 human ensembl 70_37 -1 known rna NULL NULL 0.912 - - - no_errors RP11-293B20.1 Clone_based_vega_gene ENSG00000260518 0 genome.wustl.edu 37 16 33497322 33497322 + RNA SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 16 33497322 33497322 G A SNP ENSG00000260518 ENST00000565156 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-293B20.1 Clone_based_vega_gene ENSG00000268530 0 genome.wustl.edu 37 19 48968981 48968981 + RNA SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 19 48968981 48968981 G C SNP ENSG00000268530 ENST00000593476 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTC-273B12.5 Clone_based_vega_gene EP400 57634 genome.wustl.edu 37 12 132445333 132445333 + Nonsense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 12 132445333 132445333 C T SNP EP400 ENST00000333577 human ensembl 70_37 +1 known nonsense c.169 p.Q57* 1.000 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC F8 2157 genome.wustl.edu 37 X 154158428 154158428 + Missense_Mutation SNP T T A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 X 154158428 154158428 T A SNP F8 ENST00000360256 human ensembl 70_37 -1 known missense c.3637 p.I1213F 0.000 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC FAM194A 131831 genome.wustl.edu 37 3 150384694 150384694 + Silent SNP T T C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 3 150384694 150384694 T C SNP FAM194A ENST00000295910 human ensembl 70_37 -1 known silent c.1608 p.K536 0.998 NULL NULL - no_errors FAM194A HGNC FAM98C 147965 genome.wustl.edu 37 19 38899501 38899502 + In_Frame_Ins INS - - AAG TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 19 38899501 38899502 - AAG INS FAM98C ENST00000252530 human ensembl 70_37 +1 known in_frame_ins c.1029_1030 p.347in_frame_insK 0.117:0.830 NULL pfam_Uncharacterised_FAM98 - no_errors FAM98C HGNC FEZF2 55079 genome.wustl.edu 37 3 62358300 62358300 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 3 62358300 62358300 C T SNP FEZF2 ENST00000283268 human ensembl 70_37 -1 known missense c.244 p.E82K 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF2 HGNC FGF1 2246 genome.wustl.edu 37 5 141993587 141993587 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 5 141993587 141993587 G A SNP FGF1 ENST00000337706 human ensembl 70_37 -1 known missense c.106 p.H36Y 1.000 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF1 HGNC FLNC 2318 genome.wustl.edu 37 7 128498544 128498544 + Silent SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 7 128498544 128498544 C T SNP FLNC ENST00000325888 human ensembl 70_37 +1 known silent c.8145 p.V2715 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC FRMD5 84978 genome.wustl.edu 37 15 44202144 44202144 + Silent SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 15 44202144 44202144 G C SNP FRMD5 ENST00000417257 human ensembl 70_37 -1 known silent c.363 p.L121 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain - no_errors FRMD5 HGNC FUK 197258 genome.wustl.edu 37 16 70506932 70506932 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 16 70506932 70506932 C T SNP FUK ENST00000378912 human ensembl 70_37 +1 known missense c.1549 p.L517F 0.810 pfam_Fucokinase pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase - no_errors FUK HGNC GAB4 128954 genome.wustl.edu 37 22 17444720 17444720 + Splice_Site SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 22 17444720 17444720 C T SNP GAB4 ENST00000400588 human ensembl 70_37 -1 known splice_site c.1477-1 e9-1 1.000 - - - no_errors GAB4 HGNC GABRA6 2559 genome.wustl.edu 37 5 161128674 161128674 + Silent SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 5 161128674 161128674 G A SNP GABRA6 ENST00000274545 human ensembl 70_37 +1 known silent c.1257 p.Q419 1.000 superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA6 HGNC GLRA3 8001 genome.wustl.edu 37 4 175577900 175577900 + Silent SNP T T C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 4 175577900 175577900 T C SNP GLRA3 ENST00000274093 human ensembl 70_37 -1 known silent c.1110 p.S370 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_A3,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA3 HGNC GRB14 2888 genome.wustl.edu 37 2 165365356 165365356 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 2 165365356 165365356 G A SNP GRB14 ENST00000263915 human ensembl 70_37 -1 known missense c.823 p.R275W 0.996 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB14 HGNC GSTT2 2953 genome.wustl.edu 37 22 24325062 24325062 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 22 24325062 24325062 G A SNP GSTT2 ENST00000215780 human ensembl 70_37 +1 known missense c.352 p.V118M 0.104 superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors GSTT2 HGNC GTPBP1 9567 genome.wustl.edu 37 22 39112087 39112087 + Silent SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 22 39112087 39112087 G A SNP GTPBP1 ENST00000216044 human ensembl 70_37 +1 known silent c.480 p.E160 1.000 NULL pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel - no_errors GTPBP1 HGNC HAUS6 54801 genome.wustl.edu 37 9 19058250 19058250 + Missense_Mutation SNP C C A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 9 19058250 19058250 C A SNP HAUS6 ENST00000380502 human ensembl 70_37 -1 known missense c.2515 p.A839S 1.000 NULL NULL - no_errors HAUS6 HGNC HGF 3082 genome.wustl.edu 37 7 81374376 81374376 + Missense_Mutation SNP C C G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 7 81374376 81374376 C G SNP HGF ENST00000222390 human ensembl 70_37 -1 known missense c.686 p.G229A 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HGF HGNC HLA-A 3105 genome.wustl.edu 37 6 29912108 29912108 + Missense_Mutation SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 6 29912108 29912108 G C SNP HLA-A ENST00000376806 human ensembl 70_37 +1 known missense c.829 p.E277Q 0.846 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC HLA-J 3137 genome.wustl.edu 37 6 29977350 29977350 + RNA SNP T T G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 6 29977350 29977350 T G SNP HLA-J ENST00000462773 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors HLA-J HGNC HMCN1 83872 genome.wustl.edu 37 1 186141187 186141187 + Silent SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 186141187 186141187 G A SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known silent c.15738 p.K5246 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC INPP5J 27124 genome.wustl.edu 37 22 31522641 31522641 + Silent SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 22 31522641 31522641 C T SNP INPP5J ENST00000331075 human ensembl 70_37 +1 known silent c.1428 p.D476 0.967 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5J HGNC ITGBL1 9358 genome.wustl.edu 37 13 102250542 102250542 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 13 102250542 102250542 C T SNP ITGBL1 ENST00000376180 human ensembl 70_37 +1 known missense c.908 p.A303V 0.144 pfam_EGF_extracell,smart_EG-like_dom pfam_EGF_extracell,smart_EG-like_dom - no_errors ITGBL1 HGNC JPH3 57338 genome.wustl.edu 37 16 87723265 87723265 + Missense_Mutation SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 16 87723265 87723265 G C SNP JPH3 ENST00000284262 human ensembl 70_37 +1 known missense c.1299 p.Q433H 1.000 pirsf_Junctophilin pirsf_Junctophilin,pfam_MORN,smart_MORN - no_errors JPH3 HGNC KIF1C 10749 genome.wustl.edu 37 17 4925967 4925967 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 17 4925967 4925967 G A SNP KIF1C ENST00000320785 human ensembl 70_37 +1 known missense c.2591 p.R864H 1.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1C HGNC KIN 22944 genome.wustl.edu 37 10 7797903 7797904 + RNA INS - - AACT TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 10 7797903 7797904 - AACT INS KIN ENST00000463666 human ensembl 70_37 -1 known rna NULL NULL 0.042:0.040 - - - no_errors KIN HGNC KLK2 3817 genome.wustl.edu 37 19 51380002 51380002 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 19 51380002 51380002 G A SNP KLK2 ENST00000325321 human ensembl 70_37 +1 known missense c.481 p.E161K 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK2 HGNC KRT6B 3854 genome.wustl.edu 37 12 52845801 52845801 + Missense_Mutation SNP T T C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 12 52845801 52845801 T C SNP KRT6B ENST00000252252 human ensembl 70_37 -1 known missense c.62 p.N21S 0.831 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC KRT86 3892 genome.wustl.edu 37 12 52699842 52699842 + Splice_Site SNP A A G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 12 52699842 52699842 A G SNP KRT86 ENST00000293525 human ensembl 70_37 +1 known splice_site c.1027-2 e7-2 1.000 - - - no_errors KRT86 Uniprot_genename LARS2 23395 genome.wustl.edu 37 3 45554648 45554648 + Silent SNP G G T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 3 45554648 45554648 G T SNP LARS2 ENST00000265537 human ensembl 70_37 +1 known silent c.1782 p.L594 1.000 pfam_aa-tRNA-synth_Ia,prints_Leu-tRNA-ligase_bac/mito,tigrfam_Leu-tRNA-ligase_bac/mito pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Leu-tRNA-ligase_bac/mito,tigrfam_Leu-tRNA-ligase_bac/mito - no_errors LARS2 HGNC LFNG 3955 genome.wustl.edu 37 7 2552881 2552882 + Frame_Shift_Ins INS - - GATG TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 7 2552881 2552882 - GATG INS LFNG ENST00000402506 human ensembl 70_37 +1 putative frame_shift_ins c.138_139 p.M50fs 0.003:0.004 NULL pfam_Fringe-like - no_errors LFNG HGNC LHFPL2 10184 genome.wustl.edu 37 5 77784660 77784660 + RNA SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 5 77784660 77784660 G C SNP LHFPL2 ENST00000502722 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors LHFPL2 HGNC LIN28A 79727 genome.wustl.edu 37 1 26751847 26751847 + Missense_Mutation SNP G G T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 26751847 26751847 G T SNP LIN28A ENST00000254231 human ensembl 70_37 +1 known missense c.282 p.E94D 1.000 pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot,prints_CSP_DNA-bd pfam_CSP_DNA-bd,pfam_Znf_CCHC,superfamily_NA-bd_OB-fold-like,superfamily_Znf_CCHC,smart_Cold_shock_prot,smart_Znf_CCHC,pfscan_Znf_CCHC,prints_CSP_DNA-bd - no_errors LIN28A HGNC LINC00152 112597 genome.wustl.edu 37 2 87755101 87755101 + RNA SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 2 87755101 87755101 C T SNP LINC00152 ENST00000331944 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00152 HGNC LMOD1 25802 genome.wustl.edu 37 1 201868709 201868709 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 201868709 201868709 G A SNP LMOD1 ENST00000367288 human ensembl 70_37 -1 known missense c.1432 p.R478W 1.000 NULL pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors LMOD1 HGNC LOC100128979 100128979 genome.wustl.edu 37 15 63340990 63340990 + RNA SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 15 63340990 63340990 C T SNP LOC100128979 ENST00000561241 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors RP11-244F12.3 Clone_based_vega_gene LOC100128979 100128979 genome.wustl.edu 37 15 63340993 63340993 + RNA SNP A A C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 15 63340993 63340993 A C SNP LOC100128979 ENST00000561241 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-244F12.3 Clone_based_vega_gene LOC100130015 100130015 genome.wustl.edu 37 16 90110172 90110172 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 16 90110172 90110172 C T SNP LOC100130015 ENST00000517889 human ensembl 70_37 -1 novel missense c.334 p.A112T 0.009 NULL pfam_Transthyretin/HIU_hydrolase_SF,superfamily_Transthyretin/HIU_hydrolase_SF - no_errors AC133919.6 Clone_based_vega_gene LOC100131089 100131089 genome.wustl.edu 37 15 40357969 40357970 + RNA INS - - A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 15 40357969 40357970 - A INS LOC100131089 ENST00000504245 human ensembl 70_37 +1 known rna NULL NULL 0.002:0.001 - - - no_errors RP11-521C20.4 Clone_based_vega_gene LOC151174 151174 genome.wustl.edu 37 2 239133938 239133938 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 2 239133938 239133938 G A SNP LOC151174 ENST00000334973 human ensembl 70_37 -1 known missense c.268 p.P90S 0.000 NULL NULL - no_errors AC016757.3 Clone_based_vega_gene LRRC4B 94030 genome.wustl.edu 37 19 51022613 51022613 + Silent SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 19 51022613 51022613 C T SNP LRRC4B ENST00000389201 human ensembl 70_37 -1 known silent c.357 p.K119 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRC4B HGNC LRRC8A 56262 genome.wustl.edu 37 9 131671153 131671153 + Silent SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 9 131671153 131671153 G A SNP LRRC8A ENST00000259324 human ensembl 70_37 +1 known silent c.1710 p.Q570 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8A HGNC LRTM2 654429 genome.wustl.edu 37 12 1940559 1940559 + Missense_Mutation SNP C C G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 12 1940559 1940559 C G SNP LRTM2 ENST00000299194 human ensembl 70_37 +1 known missense c.526 p.L176V 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM2 HGNC MAN1C1 57134 genome.wustl.edu 37 1 25944781 25944781 + Nonsense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 25944781 25944781 C T SNP MAN1C1 ENST00000374332 human ensembl 70_37 +1 known nonsense c.493 p.Q165* 0.000 superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1C1 HGNC MAPKAPK2 9261 genome.wustl.edu 37 1 206905167 206905167 + RNA SNP C C G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 206905167 206905167 C G SNP MAPKAPK2 ENST00000479009 human ensembl 70_37 +1 putative rna NULL NULL 0.072 - - - no_errors MAPKAPK2 HGNC MAST1 22983 genome.wustl.edu 37 19 12984741 12984741 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 19 12984741 12984741 G A SNP MAST1 ENST00000251472 human ensembl 70_37 +1 known missense c.3770 p.R1257H 1.000 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST1 HGNC MAST4 375449 genome.wustl.edu 37 5 65892767 65892768 + In_Frame_Ins INS - - GCC TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 5 65892767 65892768 - GCC INS MAST4 ENST00000404260 human ensembl 70_37 +1 known in_frame_ins c.284_285 p.99in_frame_insP 0.152:0.543 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST4 HGNC MAU2 23383 genome.wustl.edu 37 19 19453623 19453623 + Silent SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 19 19453623 19453623 G A SNP MAU2 ENST00000262815 human ensembl 70_37 +1 known silent c.921 p.E307 1.000 pfam_Cohesin_loading_factor pfam_Cohesin_loading_factor,smart_TPR_repeat - no_errors MAU2 HGNC MDH1B 130752 genome.wustl.edu 37 2 207613788 207613788 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 2 207613788 207613788 C T SNP MDH1B ENST00000374412 human ensembl 70_37 -1 known missense c.1172 p.G391D 0.995 pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C - no_errors MDH1B HGNC MEPE 56955 genome.wustl.edu 37 4 88759818 88759818 + Missense_Mutation SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 4 88759818 88759818 G C SNP MEPE ENST00000361056 human ensembl 70_37 +1 known missense c.89 p.S30T 0.968 NULL pfam_Osteoregulin - no_errors MEPE HGNC MICALCL 84953 genome.wustl.edu 37 11 12315972 12315972 + Missense_Mutation SNP C C A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 11 12315972 12315972 C A SNP MICALCL ENST00000256186 human ensembl 70_37 +1 known missense c.994 p.Q332K 0.940 NULL pfam_DUF3585,smart_Fertility_inhib_FinO/ProQ - no_errors MICALCL HGNC MICALL2 79778 genome.wustl.edu 37 7 1474116 1474116 + RNA SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 7 1474116 1474116 C T SNP MICALL2 ENST00000471899 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors MICALL2 HGNC MKI67 4288 genome.wustl.edu 37 10 129917553 129917553 + Silent SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 10 129917553 129917553 C T SNP MKI67 ENST00000368654 human ensembl 70_37 -1 known silent c.318 p.R106 0.001 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC KMT2C 58508 genome.wustl.edu 37 7 151864248 151864248 + Nonsense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 7 151864248 151864248 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.9733 p.Q3245* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC MLXIP 22877 genome.wustl.edu 37 12 122618282 122618282 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 12 122618282 122618282 C T SNP MLXIP ENST00000319080 human ensembl 70_37 +1 known missense c.1480 p.H494Y 0.954 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors MLXIP HGNC MMP2 4313 genome.wustl.edu 37 16 55516942 55516942 + Missense_Mutation SNP A A G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 16 55516942 55516942 A G SNP MMP2 ENST00000219070 human ensembl 70_37 +1 known missense c.275 p.N92S 0.868 pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin - no_errors MMP2 HGNC MT-ATP6 4508 genome.wustl.edu 37 MT 9055 9055 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 MT 9055 9055 G A SNP MT-ATP6 ENST00000361899 human ensembl 70_37 +1 known missense c.529 p.A177T NULL pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu - no_errors MT-ATP6 HGNC MT-CO1 4512 genome.wustl.edu 37 MT 6864 6864 + Missense_Mutation SNP T T C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 MT 6864 6864 T C SNP MT-CO1 ENST00000361624 human ensembl 70_37 +1 known missense c.961 p.F321L NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC MTMR6 9107 genome.wustl.edu 37 13 25840278 25840278 + Missense_Mutation SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 13 25840278 25840278 G C SNP MTMR6 ENST00000381801 human ensembl 70_37 -1 known missense c.451 p.R151G 0.999 NULL pfam_Myotub-related,smart_Tyr_Pase_cat - no_errors MTMR6 HGNC MUC4 4585 genome.wustl.edu 37 3 195506350 195506350 + Missense_Mutation SNP G G T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 3 195506350 195506350 G T SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.12101 p.P4034H 0.003 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC5B 727897 genome.wustl.edu 37 11 1248315 1248315 + Nonsense_Mutation SNP C C A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 11 1248315 1248315 C A SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known nonsense c.516 p.Y172* 0.016 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC MYH6 4624 genome.wustl.edu 37 14 23866751 23866751 + Splice_Site SNP C C A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 14 23866751 23866751 C A SNP MYH6 ENST00000356287 human ensembl 70_37 -1 known splice_site c.1962+1 e14+1 1.000 - - - no_errors MYH6 HGNC MYO15A 51168 genome.wustl.edu 37 17 18025405 18025405 + Silent SNP A A C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 17 18025405 18025405 A C SNP MYO15A ENST00000205890 human ensembl 70_37 +1 known silent c.3291 p.P1097 0.001 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC MYOM2 9172 genome.wustl.edu 37 8 2054351 2054351 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 8 2054351 2054351 G A SNP MYOM2 ENST00000262113 human ensembl 70_37 +1 known missense c.2962 p.D988N 1.000 smart_Ig_sub,pfscan_Ig-like 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 - no_errors MYOM2 HGNC MYRIP 25924 genome.wustl.edu 37 3 40085724 40085724 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 3 40085724 40085724 C T SNP MYRIP ENST00000396217 human ensembl 70_37 +1 known missense c.164 p.T55M 0.013 NULL pfam_Myrip/Melanophilin - no_errors MYRIP HGNC MYT1 4661 genome.wustl.edu 37 20 62867944 62867944 + Silent SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 20 62867944 62867944 G A SNP MYT1 ENST00000536311 human ensembl 70_37 +1 known silent c.3015 p.K1005 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC NAV3 89795 genome.wustl.edu 37 12 78444742 78444742 + Silent SNP G G T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 12 78444742 78444742 G T SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known silent c.2331 p.S777 0.004 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC NDRG1 10397 genome.wustl.edu 37 8 134276799 134276799 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 8 134276799 134276799 C T SNP NDRG1 ENST00000323851 human ensembl 70_37 -1 known missense c.196 p.G66S 1.000 pfam_Ndr pfam_Ndr - no_errors NDRG1 HGNC NISCH 11188 genome.wustl.edu 37 3 52521596 52521596 + Silent SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 3 52521596 52521596 G A SNP NISCH ENST00000345716 human ensembl 70_37 +1 known silent c.2088 p.A696 0.000 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC NPAS2 4862 genome.wustl.edu 37 2 101607315 101607315 + Missense_Mutation SNP A A G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 2 101607315 101607315 A G SNP NPAS2 ENST00000542504 human ensembl 70_37 +1 known missense c.2287 p.R763G 0.589 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_dom,tigrfam_PAS - no_errors NPAS2 HGNC NPY6R 4888 genome.wustl.edu 37 5 137144191 137144191 + RNA SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 5 137144191 137144191 C T SNP NPY6R ENST00000510937 human ensembl 70_37 +1 known rna NULL NULL 0.427 - - - no_errors NPY6R HGNC OBSCN 84033 genome.wustl.edu 37 1 228461703 228461703 + Missense_Mutation SNP C C A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 228461703 228461703 C A SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.5370 p.S1790R 0.999 pfam_Ig_I-set,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC OR2T27 403239 genome.wustl.edu 37 1 248813733 248813734 + Frame_Shift_Ins INS - - C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 248813733 248813734 - C INS OR2T27 ENST00000344889 human ensembl 70_37 -1 known frame_shift_ins c.453_452 p.G152fs 0.000:0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T27 HGNC OR2T27 403239 genome.wustl.edu 37 1 248813749 248813749 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 248813749 248813749 G A SNP OR2T27 ENST00000344889 human ensembl 70_37 -1 known missense c.437 p.A146V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T27 HGNC OR2T34 127068 genome.wustl.edu 37 1 248737595 248737595 + Missense_Mutation SNP A A G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 248737595 248737595 A G SNP OR2T34 ENST00000328782 human ensembl 70_37 -1 known missense c.464 p.V155A 0.002 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 OR2T34 HGNC OR52B2 255725 genome.wustl.edu 37 11 6191249 6191249 + Missense_Mutation SNP C C A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 11 6191249 6191249 C A SNP OR52B2 ENST00000530810 human ensembl 70_37 -1 known missense c.308 p.G103V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52B2 HGNC OSGIN2 734 genome.wustl.edu 37 8 90937187 90937187 + Silent SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 8 90937187 90937187 C T SNP OSGIN2 ENST00000451899 human ensembl 70_37 +1 known silent c.1077 p.D359 0.998 NULL NULL - no_errors OSGIN2 HGNC P2RY8 286530 genome.wustl.edu 37 X 1585079 1585079 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 X 1585079 1585079 C T SNP P2RY8 ENST00000381297 human ensembl 70_37 -1 known missense c.373 p.V125I 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Protea_act_rcpt - no_errors P2RY8 HGNC PABPC4 8761 genome.wustl.edu 37 1 40030878 40030878 + Missense_Mutation SNP T T C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 40030878 40030878 T C SNP PABPC4 ENST00000372858 human ensembl 70_37 -1 known missense c.1145 p.Y382C 1.000 tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC4 HGNC PAQR8 85315 genome.wustl.edu 37 6 52268056 52268056 + Silent SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 6 52268056 52268056 C T SNP PAQR8 ENST00000360726 human ensembl 70_37 +1 known silent c.45 p.S15 0.850 NULL pfam_HlyIII-related,superfamily_C-type_lectin_fold - no_errors PAQR8 HGNC PCDHA2 56146 genome.wustl.edu 37 5 140176634 140176634 + Missense_Mutation SNP T T G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 5 140176634 140176634 T G SNP PCDHA2 ENST00000526136 human ensembl 70_37 +1 known missense c.2085 p.D695E 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC PCDHGA10 56106 genome.wustl.edu 37 5 140792799 140792799 + Silent SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 5 140792799 140792799 G A SNP PCDHGA10 ENST00000398610 human ensembl 70_37 +1 known silent c.57 p.L19 0.709 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA10 HGNC PCNXL2 80003 genome.wustl.edu 37 1 233431150 233431150 + Silent SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 233431150 233431150 C T SNP PCNXL2 ENST00000258229 human ensembl 70_37 -1 known silent c.75 p.P25 0.084 NULL pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC PDILT 204474 genome.wustl.edu 37 16 20371898 20371898 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 16 20371898 20371898 C T SNP PDILT ENST00000302451 human ensembl 70_37 -1 known missense c.1498 p.E500K 0.052 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors PDILT HGNC PHLDA3 23612 genome.wustl.edu 37 1 201437540 201437540 + Silent SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 201437540 201437540 G C SNP PHLDA3 ENST00000367309 human ensembl 70_37 -1 known silent c.375 p.L125 0.805 NULL smart_Pleckstrin_homology - no_errors PHLDA3 HGNC POGLUT1 56983 genome.wustl.edu 37 3 119204198 119204198 + Missense_Mutation SNP A A G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 3 119204198 119204198 A G SNP POGLUT1 ENST00000295588 human ensembl 70_37 +1 known missense c.602 p.K201R 0.996 pfam_LipoPS_modifying,smart_LipoPS_modifying pfam_LipoPS_modifying,smart_LipoPS_modifying - no_errors POGLUT1 HGNC PSD2 84249 genome.wustl.edu 37 5 139201535 139201535 + Silent SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 5 139201535 139201535 C T SNP PSD2 ENST00000274710 human ensembl 70_37 +1 known silent c.1155 p.L385 0.000 pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7 pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type - no_errors PSD2 HGNC PSME1 5720 genome.wustl.edu 37 14 24605456 24605457 + RNA INS - - C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 14 24605456 24605457 - C INS PSME1 ENST00000470718 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors PSME1 HGNC PTEN 5728 genome.wustl.edu 37 10 89720811 89720812 + Frame_Shift_Ins INS - - A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 10 89720811 89720812 - A INS PTEN ENST00000371953 human ensembl 70_37 +1 known frame_shift_ins c.962_963 p.N323fs 1.000:1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC PTPRD 5789 genome.wustl.edu 37 9 8341196 8341196 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 9 8341196 8341196 G A SNP PTPRD ENST00000356435 human ensembl 70_37 -1 known missense c.5020 p.R1674C 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC PTPRT 11122 genome.wustl.edu 37 20 40735447 40735447 + Missense_Mutation SNP C C A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 20 40735447 40735447 C A SNP PTPRT ENST00000373198 human ensembl 70_37 -1 known missense c.3435 p.R1145S 0.999 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC RAB13 5872 genome.wustl.edu 37 1 153954779 153954780 + RNA DEL AC AC - TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 153954779 153954780 AC - DEL RAB13 ENST00000462680 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors RAB13 HGNC RAMP2 10266 genome.wustl.edu 37 17 40914699 40914699 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 17 40914699 40914699 C T SNP RAMP2 ENST00000588576 human ensembl 70_37 +1 putative missense c.248 p.S83L 0.996 NULL NULL - no_errors RAMP2 HGNC RCOR1 23186 genome.wustl.edu 37 14 103173771 103173771 + Silent SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 14 103173771 103173771 G A SNP RCOR1 ENST00000262241 human ensembl 70_37 +1 known silent c.582 p.E194 1.000 superfamily_Homeodomain-like,smart_SANT/Myb pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,prints_Antifreeze_1,pfscan_ELM2_dom - no_errors RCOR1 HGNC RHOBTB2 23221 genome.wustl.edu 37 8 22862930 22862930 + Silent SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 8 22862930 22862930 C T SNP RHOBTB2 ENST00000251822 human ensembl 70_37 +1 known silent c.238 p.L80 1.000 pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC RHOJ 57381 genome.wustl.edu 37 14 63747800 63747800 + Missense_Mutation SNP C C G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 14 63747800 63747800 C G SNP RHOJ ENST00000316754 human ensembl 70_37 +1 known missense c.349 p.P117A 0.999 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOJ HGNC SCMH1 22955 genome.wustl.edu 37 1 41651896 41651896 + RNA SNP A A C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 41651896 41651896 A C SNP SCMH1 ENST00000488592 human ensembl 70_37 -1 known rna NULL NULL 0.977 - - - no_errors SCMH1 HGNC SERPINA3 12 genome.wustl.edu 37 14 95081252 95081252 + Missense_Mutation SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 14 95081252 95081252 G C SNP SERPINA3 ENST00000553947 human ensembl 70_37 +1 known missense c.549 p.K183N 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA3 HGNC SLC7A2 6542 genome.wustl.edu 37 8 17396334 17396334 + Missense_Mutation SNP A A G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 8 17396334 17396334 A G SNP SLC7A2 ENST00000004531 human ensembl 70_37 +1 known missense c.1 p.M1V 0.001 NULL pfam_AA-permease_dom,tigrfam_Cat_AA_permease - no_errors SLC7A2 HGNC SLFN13 146857 genome.wustl.edu 37 17 33768937 33768937 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 17 33768937 33768937 C T SNP SLFN13 ENST00000285013 human ensembl 70_37 -1 known missense c.1567 p.A523T 0.000 NULL pfam_ATPase_AAA-4,pfam_DUF2075 - no_errors SLFN13 HGNC SNUPN 10073 genome.wustl.edu 37 15 75897569 75897569 + Splice_Site SNP C C G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 15 75897569 75897569 C G SNP SNUPN ENST00000371091 human ensembl 70_37 -1 known splice_site c.727-1 e7-1 1.000 - - - no_errors SNUPN HGNC SPAG9 9043 genome.wustl.edu 37 17 49053251 49053251 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 17 49053251 49053251 G A SNP SPAG9 ENST00000510283 human ensembl 70_37 -1 putative missense c.3064 p.H1022Y 1.000 NULL superfamily_WD40_repeat_dom - no_errors SPAG9 HGNC SPATA17 128153 genome.wustl.edu 37 1 217824495 217824495 + Missense_Mutation SNP G G A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 217824495 217824495 G A SNP SPATA17 ENST00000366933 human ensembl 70_37 +1 known missense c.215 p.R72K 1.000 pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors SPATA17 HGNC SPINK5 11005 genome.wustl.edu 37 5 147486700 147486700 + Missense_Mutation SNP A A G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 5 147486700 147486700 A G SNP SPINK5 ENST00000359874 human ensembl 70_37 +1 known missense c.1580 p.N527S 1.000 pfam_Kazal-type_dom,smart_Prot_inh_Kazal pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal - no_errors SPINK5 HGNC SRSF12 135295 genome.wustl.edu 37 6 89808634 89808634 + Missense_Mutation SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 6 89808634 89808634 G C SNP SRSF12 ENST00000452027 human ensembl 70_37 -1 known missense c.449 p.S150C 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF12 HGNC STAT3 6774 genome.wustl.edu 37 17 40500481 40500481 + Silent SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 17 40500481 40500481 G C SNP STAT3 ENST00000264657 human ensembl 70_37 -1 known silent c.54 p.L18 0.010 pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT3 HGNC THUMPD1 55623 genome.wustl.edu 37 16 20752961 20752961 + Missense_Mutation SNP C C A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 16 20752961 20752961 C A SNP THUMPD1 ENST00000431224 human ensembl 70_37 -1 known missense c.359 p.G120V 1.000 NULL pfam_THUMP,smart_THUMP,pfscan_THUMP - no_errors THUMPD1 HGNC TMC1 117531 genome.wustl.edu 37 9 75387407 75387407 + Missense_Mutation SNP C C A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 9 75387407 75387407 C A SNP TMC1 ENST00000297784 human ensembl 70_37 +1 known missense c.820 p.P274T 1.000 NULL pfam_TMC - no_errors TMC1 HGNC TMC2 117532 genome.wustl.edu 37 20 2539295 2539295 + Missense_Mutation SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 20 2539295 2539295 G C SNP TMC2 ENST00000358864 human ensembl 70_37 +1 known missense c.276 p.E92D 0.041 NULL pfam_TMC - no_errors TMC2 HGNC TMEM235 283999 genome.wustl.edu 37 17 76235162 76235162 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 17 76235162 76235162 C T SNP TMEM235 ENST00000551068 human ensembl 70_37 +1 known missense c.467 p.A156V 0.018 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors TMEM235 HGNC TMEM8C 389827 genome.wustl.edu 37 9 136385318 136385318 + Silent SNP C C G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 9 136385318 136385318 C G SNP TMEM8C ENST00000339996 human ensembl 70_37 -1 known silent c.228 p.L76 0.998 pfam_DUF3522 pfam_DUF3522 - no_errors TMEM8C HGNC TPSG1 25823 genome.wustl.edu 37 16 1274609 1274609 + Missense_Mutation SNP C C A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 16 1274609 1274609 C A SNP TPSG1 ENST00000234798 human ensembl 70_37 -1 known missense c.66 p.L22F 0.010 NULL pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TPSG1 HGNC TRIL 9865 genome.wustl.edu 37 7 28995817 28995817 + RNA SNP C C G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 7 28995817 28995817 C G SNP TRIL ENST00000322982 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors TRIL HGNC TRIO 7204 genome.wustl.edu 37 5 14420638 14420639 + RNA INS - - T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 5 14420638 14420639 - T INS TRIO ENST00000507714 human ensembl 70_37 +1 known rna NULL NULL 0.067:0.013 - - - no_errors TRIO HGNC TRMT44 152992 genome.wustl.edu 37 4 8469962 8469962 + Nonsense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 4 8469962 8469962 C T SNP TRMT44 ENST00000389737 human ensembl 70_37 +1 known nonsense c.1816 p.R606* 0.723 NULL pfam_tRNA_uracil_MeTrfase - no_errors TRMT44 HGNC TRPM1 4308 genome.wustl.edu 37 15 31324907 31324907 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 15 31324907 31324907 C T SNP TRPM1 ENST00000542188 human ensembl 70_37 -1 known missense c.2988 p.M996I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors TRPM1 HGNC TRPM7 54822 genome.wustl.edu 37 15 50868017 50868017 + RNA SNP T T A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 15 50868017 50868017 T A SNP TRPM7 ENST00000560849 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TRPM7 HGNC TRPS1 7227 genome.wustl.edu 37 8 116430592 116430592 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 8 116430592 116430592 C T SNP TRPS1 ENST00000395715 human ensembl 70_37 -1 known missense c.2789 p.C930Y 1.000 pfam_Znf_GATA,smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ULK4P2 100288380 genome.wustl.edu 37 15 30888946 30888946 + RNA SNP T T A TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 15 30888946 30888946 T A SNP ULK4P2 ENST00000566793 human ensembl 70_37 +1 putative rna NULL NULL 0.164 - - - no_errors ULK4P2 HGNC UNC45B 146862 genome.wustl.edu 37 17 33496889 33496889 + Missense_Mutation SNP G G T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 17 33496889 33496889 G T SNP UNC45B ENST00000268876 human ensembl 70_37 +1 known missense c.1486 p.D496Y 1.000 superfamily_ARM-type_fold pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45B HGNC USP39 10713 genome.wustl.edu 37 2 85876225 85876225 + RNA DEL T T - TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 2 85876225 85876225 T - DEL USP39 ENST00000459775 human ensembl 70_37 +1 known rna NULL NULL 0.888 - - - no_errors USP39 HGNC VPS13D 55187 genome.wustl.edu 37 1 12309611 12309611 + RNA SNP A A G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 12309611 12309611 A G SNP VPS13D ENST00000476169 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors VPS13D HGNC WDR17 116966 genome.wustl.edu 37 4 177046476 177046476 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 4 177046476 177046476 C T SNP WDR17 ENST00000280190 human ensembl 70_37 +1 known missense c.832 p.P278S 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ZBED6 100381270 genome.wustl.edu 37 1 203769304 203769304 + Missense_Mutation SNP T T C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 203769304 203769304 T C SNP ZBED6 ENST00000550078 human ensembl 70_37 +1 known missense c.2654 p.L885S 1.000 pfam_HATC,superfamily_RNaseH-like_dom pfam_Znf_BED_prd,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED6 HGNC ZFYVE9 9372 genome.wustl.edu 37 1 52798442 52798442 + Missense_Mutation SNP G G C TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 1 52798442 52798442 G C SNP ZFYVE9 ENST00000287727 human ensembl 70_37 +1 known missense c.3441 p.M1147I 1.000 pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE9 HGNC ZNF268 10795 genome.wustl.edu 37 12 133780222 133780222 + Silent SNP G G T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 12 133780222 133780222 G T SNP ZNF268 ENST00000228289 human ensembl 70_37 +1 known silent c.1950 p.T650 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF268 HGNC ZNF271 10778 genome.wustl.edu 37 18 32890708 32890708 + RNA SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 18 32890708 32890708 C T SNP ZNF271 ENST00000399070 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors ZNF271 HGNC ZNF677 342926 genome.wustl.edu 37 19 53741588 53741588 + Missense_Mutation SNP C C G TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 19 53741588 53741588 C G SNP ZNF677 ENST00000333952 human ensembl 70_37 -1 known missense c.392 p.R131T 0.118 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF677 HGNC ZNF829 374899 genome.wustl.edu 37 19 37406814 37406814 + Missense_Mutation SNP C C T TCGA-C5-A3HL-01A-11D-A20U-09 TCGA-C5-A3HL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32898a90-051e-471e-9c2c-22f8ec5ef4dd 43a31144-5227-4461-b012-a2080346c704 19 37406814 37406814 C T SNP ZNF829 ENST00000520965 human ensembl 70_37 -1 known missense c.43 p.G15R 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF829 HGNC