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 ADAM12 8038 genome.wustl.edu 37 10 127782552 127782552 + Splice_Site SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 10 127782552 127782552 G T SNP ADAM12 ENST00000368679 human ensembl 70_37 -1 known splice_site c.1154+2 e11+2 1.000 - - - no_errors ADAM12 HGNC ADCY9 115 genome.wustl.edu 37 16 4029235 4029235 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 16 4029235 4029235 C T SNP ADCY9 ENST00000294016 human ensembl 70_37 -1 known missense c.2561 p.R854H 0.851 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ADPGK-AS1 100287559 genome.wustl.edu 37 15 73076523 73076523 + RNA SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 15 73076523 73076523 G A SNP ADPGK-AS1 ENST00000563592 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ADPGK-AS1 HGNC AFF3 3899 genome.wustl.edu 37 2 100199393 100199393 + Missense_Mutation SNP G G C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 2 100199393 100199393 G C SNP AFF3 ENST00000356421 human ensembl 70_37 -1 known missense c.2735 p.S912C 0.924 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC AGBL3 340351 genome.wustl.edu 37 7 134674004 134674004 + Nonsense_Mutation SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 7 134674004 134674004 G T SNP AGBL3 ENST00000436302 human ensembl 70_37 +1 known nonsense c.67 p.E23* 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL3 HGNC AJAP1 55966 genome.wustl.edu 37 1 4834486 4834486 + Splice_Site SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 4834486 4834486 G A SNP AJAP1 ENST00000378190 human ensembl 70_37 +1 known splice_site c.1164-1 e5-1 1.000 - - - no_errors AJAP1 HGNC ANO6 196527 genome.wustl.edu 37 12 45833560 45833560 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 12 45833560 45833560 G A SNP ANO6 ENST00000425752 human ensembl 70_37 +1 known missense c.2629 p.E877K 0.009 NULL pfam_Anoctamin - no_errors ANO6 HGNC AP1G1 164 genome.wustl.edu 37 16 71841764 71841765 + RNA INS - - A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 16 71841764 71841765 - A INS AP1G1 ENST00000570297 human ensembl 70_37 -1 known rna NULL NULL 0.007:0.002 - - - no_errors AP1G1 HGNC APLNR 187 genome.wustl.edu 37 11 57003977 57003977 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 57003977 57003977 G A SNP APLNR ENST00000257254 human ensembl 70_37 -1 known missense c.502 p.R168C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM 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 ATF7IP 55729 genome.wustl.edu 37 12 14613464 14613464 + Missense_Mutation SNP G G C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 12 14613464 14613464 G C SNP ATF7IP ENST00000261168 human ensembl 70_37 +1 known missense c.2194 p.V732L 0.914 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ATP8B4 79895 genome.wustl.edu 37 15 50271846 50271846 + Silent SNP G G C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 15 50271846 50271846 G C SNP ATP8B4 ENST00000284509 human ensembl 70_37 -1 known silent c.1002 p.L334 0.999 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B4 HGNC B2M 567 genome.wustl.edu 37 15 45007645 45007645 + Nonsense_Mutation SNP C C G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 15 45007645 45007645 C G SNP B2M ENST00000544417 human ensembl 70_37 +1 known nonsense c.92 p.S31* 0.686 pfscan_Ig-like pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like - no_errors B2M HGNC B3GAT1 27087 genome.wustl.edu 37 11 134252735 134252735 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 134252735 134252735 G A SNP B3GAT1 ENST00000537389 human ensembl 70_37 -1 known missense c.826 p.R276W 0.996 pfam_Glyco_trans_43 pfam_Glyco_trans_43 - no_errors B3GAT1 HGNC BAZ2A 11176 genome.wustl.edu 37 12 57000122 57000122 + RNA SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 12 57000122 57000122 C A SNP BAZ2A ENST00000549763 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors BAZ2A HGNC BRCA2 675 genome.wustl.edu 37 13 32937315 32937315 + Splice_Site SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 13 32937315 32937315 G A SNP BRCA2 ENST00000380152 human ensembl 70_37 +1 known splice_site c.7977-1 e17-1 1.000 - - - no_errors BRCA2 HGNC C10orf137 26098 genome.wustl.edu 37 10 127414249 127414249 + Splice_Site SNP A A G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 10 127414249 127414249 A G SNP C10orf137 ENST00000356792 human ensembl 70_37 +1 known splice_site c.636-2 e6-2 1.000 - - - no_errors C10orf137 HGNC C16orf89 146556 genome.wustl.edu 37 16 5115993 5115993 + Missense_Mutation SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 16 5115993 5115993 C A SNP C16orf89 ENST00000350219 human ensembl 70_37 -1 known missense c.31 p.G11W 0.006 NULL NULL - no_errors C16orf89 HGNC C4orf50 389197 genome.wustl.edu 37 4 5990869 5990870 + Frame_Shift_Del DEL CT CT - TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 4 5990869 5990870 CT - DEL C4orf50 ENST00000531445 human ensembl 70_37 -1 known frame_shift_del c.630_629 p.E210fs 0.000:0.000 NULL NULL - no_errors C4orf50 HGNC C9orf141 203235 genome.wustl.edu 37 9 139866088 139866088 + Nonsense_Mutation SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 9 139866088 139866088 G T SNP C9orf141 ENST00000371629 human ensembl 70_37 +1 known nonsense c.499 p.E167* 0.006 NULL superfamily_Calycin-like - no_errors C9orf141 HGNC CACNA2D2 9254 genome.wustl.edu 37 3 50404531 50404531 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 3 50404531 50404531 C T SNP CACNA2D2 ENST00000435965 human ensembl 70_37 -1 known missense c.2432 p.R811K 0.933 NULL pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D2 HGNC CANX 821 genome.wustl.edu 37 5 179146670 179146670 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 5 179146670 179146670 G A SNP CANX ENST00000415618 human ensembl 70_37 +1 known missense c.1018 p.D340N 1.000 pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P,prints_Calret/calnex - no_errors CANX HGNC CDC14B 8555 genome.wustl.edu 37 9 99266041 99266041 + Missense_Mutation SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 9 99266041 99266041 C A SNP CDC14B ENST00000375241 human ensembl 70_37 -1 known missense c.1491 p.L497F 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14B HGNC CDC7 8317 genome.wustl.edu 37 1 91989963 91989963 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 91989963 91989963 C T SNP CDC7 ENST00000234626 human ensembl 70_37 +1 known missense c.1696 p.H566Y 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom 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 - no_errors CDC7 HGNC CHST1 8534 genome.wustl.edu 37 11 45671730 45671730 + Silent SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 45671730 45671730 G A SNP CHST1 ENST00000308064 human ensembl 70_37 -1 known silent c.744 p.R248 0.392 pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC CIB1 10519 genome.wustl.edu 37 15 90777075 90777075 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 15 90777075 90777075 C T SNP CIB1 ENST00000328649 human ensembl 70_37 -1 known missense c.43 p.E15K 1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CIB1 HGNC CNTNAP1 8506 genome.wustl.edu 37 17 40850830 40850830 + Missense_Mutation SNP C C G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 17 40850830 40850830 C G SNP CNTNAP1 ENST00000264638 human ensembl 70_37 +1 known missense c.4057 p.P1353A 0.174 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC COL12A1 1303 genome.wustl.edu 37 6 75865553 75865553 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 6 75865553 75865553 G A SNP COL12A1 ENST00000322507 human ensembl 70_37 -1 known missense c.3268 p.P1090S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC COL27A1 85301 genome.wustl.edu 37 9 117063996 117063996 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 9 117063996 117063996 C T SNP COL27A1 ENST00000356083 human ensembl 70_37 +1 known missense c.4844 p.P1615L 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC COLEC10 10584 genome.wustl.edu 37 8 120118095 120118095 + Nonsense_Mutation SNP A A T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 8 120118095 120118095 A T SNP COLEC10 ENST00000332843 human ensembl 70_37 +1 known nonsense c.499 p.K167* 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors COLEC10 HGNC CXXC11 0 genome.wustl.edu 37 2 242815292 242815292 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 2 242815292 242815292 C T SNP CXXC11 ENST00000343216 human ensembl 70_37 +1 known missense c.1585 p.P529S 0.000 NULL NULL - no_errors CXXC11 HGNC DCC 1630 genome.wustl.edu 37 18 50683791 50683791 + Nonsense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 18 50683791 50683791 C T SNP DCC ENST00000442544 human ensembl 70_37 +1 known nonsense c.1327 p.R443* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DCC HGNC DCP2 167227 genome.wustl.edu 37 5 112346477 112346477 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 5 112346477 112346477 C T SNP DCP2 ENST00000389063 human ensembl 70_37 +1 known missense c.1072 p.R358W 1.000 NULL pfam_mRNA_decapping_BoxA,pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors DCP2 HGNC DDX50 79009 genome.wustl.edu 37 10 70670829 70670829 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 10 70670829 70670829 G A SNP DDX50 ENST00000373585 human ensembl 70_37 +1 known missense c.466 p.G156R 1.000 smart_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX50 HGNC DLG2 1740 genome.wustl.edu 37 11 83877982 83877982 + RNA SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 83877982 83877982 C T SNP DLG2 ENST00000524941 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors DLG2 HGNC DMWD 1762 genome.wustl.edu 37 19 46289788 46289788 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 19 46289788 46289788 C T SNP DMWD ENST00000270223 human ensembl 70_37 -1 known missense c.966 p.M322I 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMWD HGNC DNAH6 1768 genome.wustl.edu 37 2 84806665 84806665 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 2 84806665 84806665 G A SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.2091 p.M697I 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC DTNA 1837 genome.wustl.edu 37 18 32438352 32438352 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 18 32438352 32438352 C T SNP DTNA ENST00000269190 human ensembl 70_37 +1 known missense c.1558 p.R520W 0.993 pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNA HGNC ECI2 10455 genome.wustl.edu 37 6 4130608 4130608 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 6 4130608 4130608 C T SNP ECI2 ENST00000380118 human ensembl 70_37 -1 known missense c.499 p.E167K 0.016 pfam_Crotonase_core pfam_Acyl-CoA-binding_protein,pfam_Crotonase_core,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors ECI2 HGNC EFCAB4B 84766 genome.wustl.edu 37 12 3736711 3736711 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 12 3736711 3736711 C T SNP EFCAB4B ENST00000440314 human ensembl 70_37 -1 known missense c.1823 p.R608Q 0.999 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_EF_hand_Ca-bd,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_HAND_2,tigrfam_Small_GTP-bd_dom - no_errors EFCAB4B HGNC EGFLAM 133584 genome.wustl.edu 37 5 38427342 38427342 + Missense_Mutation SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 5 38427342 38427342 C A SNP EGFLAM ENST00000354891 human ensembl 70_37 +1 known missense c.2042 p.T681N 0.990 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000176593 0 genome.wustl.edu 37 19 58513717 58513717 + Nonsense_Mutation SNP C C G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 19 58513717 58513717 C G SNP ENSG00000176593 ENST00000550135 human ensembl 70_37 +1 putative nonsense c.239 p.S80* 0.003 NULL NULL - no_errors CTD-2368P22.1 Clone_based_vega_gene ENSG00000210135 0 genome.wustl.edu 37 MT 5703 5703 + RNA SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 MT 5703 5703 G A SNP ENSG00000210135 ENST00000387400 human ensembl 70_37 -1 novel rna NULL NULL NULL - - - no_errors J01415.9 Clone_based_ensembl_gene ENSG00000210154 0 genome.wustl.edu 37 MT 7525 7525 + RNA SNP T T C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 MT 7525 7525 T C SNP ENSG00000210154 ENST00000387419 human ensembl 70_37 +1 novel rna NULL NULL NULL - - - no_errors J01415.13 Clone_based_ensembl_gene ENSG00000225745 0 genome.wustl.edu 37 21 42554159 42554159 + RNA SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 21 42554159 42554159 C T SNP ENSG00000225745 ENST00000414699 human ensembl 70_37 -1 known rna NULL NULL 0.140 - - - no_errors AL773572.7 Clone_based_vega_gene ENSG00000234277 0 genome.wustl.edu 37 1 227618414 227618414 + RNA SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 227618414 227618414 G A SNP ENSG00000234277 ENST00000445817 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CTD-2090I13.1 Clone_based_vega_gene ENSG00000234277 0 genome.wustl.edu 37 1 227618564 227618564 + RNA SNP G G C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 227618564 227618564 G C SNP ENSG00000234277 ENST00000445817 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CTD-2090I13.1 Clone_based_vega_gene ENSG00000258252 0 genome.wustl.edu 37 14 19563232 19563232 + RNA SNP T T C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 14 19563232 19563232 T C SNP ENSG00000258252 ENST00000548748 human ensembl 70_37 -1 known rna NULL NULL 0.050 - - - no_errors CTD-2311B13.5 Clone_based_vega_gene ENSG00000267889 0 genome.wustl.edu 37 2 203104351 203104351 + Missense_Mutation SNP G G C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 2 203104351 203104351 G C SNP ENSG00000267889 ENST00000594829 human ensembl 70_37 +1 known missense c.60 p.Q20H 0.995 NULL NULL - no_errors AC079354.2 Clone_based_ensembl_gene EXD3 54932 genome.wustl.edu 37 9 140260773 140260773 + Missense_Mutation SNP C C G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 9 140260773 140260773 C G SNP EXD3 ENST00000479452 human ensembl 70_37 -1 putative missense c.697 p.E233Q 0.000 NULL NULL - no_errors EXD3 HGNC FAM201A 158228 genome.wustl.edu 37 9 38620536 38620536 + RNA SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 9 38620536 38620536 C T SNP FAM201A ENST00000471864 human ensembl 70_37 +1 putative rna NULL NULL 0.003 - - - no_errors FAM201A HGNC FAM96B 51647 genome.wustl.edu 37 16 66967633 66967633 + Missense_Mutation SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 16 66967633 66967633 G T SNP FAM96B ENST00000422424 human ensembl 70_37 -1 known missense c.232 p.P78T 0.888 pfam_DUF59 pfam_DUF59 - no_errors FAM96B HGNC FAR2 55711 genome.wustl.edu 37 12 29449988 29449988 + Nonsense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 12 29449988 29449988 C T SNP FAR2 ENST00000182377 human ensembl 70_37 +1 known nonsense c.400 p.Q134* 1.000 pfam_Male_sterile_NAD-bd,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like - no_errors FAR2 HGNC FCGR2A 2212 genome.wustl.edu 37 1 161475785 161475785 + Missense_Mutation SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 161475785 161475785 G T SNP FCGR2A ENST00000271450 human ensembl 70_37 +1 known missense c.94 p.D32Y 0.003 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCGR2A HGNC FGD5 152273 genome.wustl.edu 37 3 14862555 14862555 + Silent SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 3 14862555 14862555 G A SNP FGD5 ENST00000285046 human ensembl 70_37 +1 known silent c.1977 p.L659 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC FGD5 152273 genome.wustl.edu 37 3 14862755 14862755 + Missense_Mutation SNP G G C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 3 14862755 14862755 G C SNP FGD5 ENST00000285046 human ensembl 70_37 +1 known missense c.2177 p.R726T 0.192 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC FRMD6 122786 genome.wustl.edu 37 14 52194513 52194513 + Silent SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 14 52194513 52194513 C T SNP FRMD6 ENST00000344768 human ensembl 70_37 +1 known silent c.1635 p.L545 0.756 NULL pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD6 HGNC FXR2 9513 genome.wustl.edu 37 17 7495874 7495874 + Silent SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 17 7495874 7495874 G A SNP FXR2 ENST00000250113 human ensembl 70_37 -1 known silent c.1773 p.R591 1.000 NULL pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR2 HGNC GBAS 2631 genome.wustl.edu 37 7 56066732 56066732 + Missense_Mutation SNP C C G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 7 56066732 56066732 C G SNP GBAS ENST00000322090 human ensembl 70_37 +1 known missense c.828 p.I276M 1.000 pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel - no_errors GBAS HGNC GFPT1 2673 genome.wustl.edu 37 2 69569334 69569334 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 2 69569334 69569334 G A SNP GFPT1 ENST00000357308 human ensembl 70_37 -1 known missense c.1153 p.R385W 1.000 pfam_SIS,tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT1 HGNC GGT5 2687 genome.wustl.edu 37 22 24621550 24621550 + Nonsense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 22 24621550 24621550 G A SNP GGT5 ENST00000398292 human ensembl 70_37 -1 known nonsense c.1300 p.R434* 0.934 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT5 HGNC GLRA4 441509 genome.wustl.edu 37 X 102979867 102979867 + Missense_Mutation SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 X 102979867 102979867 C A SNP GLRA4 ENST00000372617 human ensembl 70_37 -1 known missense c.161 p.R54L 0.974 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Glycine_rcpt_A,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_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA4 HGNC GOLGA2P5 55592 genome.wustl.edu 37 12 100562920 100562921 + RNA INS - - T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 12 100562920 100562921 - T INS GOLGA2P5 ENST00000421840 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors GOLGA2B Clone_based_vega_gene GRAMD1B 57476 genome.wustl.edu 37 11 123448268 123448268 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 123448268 123448268 G A SNP GRAMD1B ENST00000322282 human ensembl 70_37 +1 known missense c.217 p.G73S 0.999 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1B HGNC GRK6 2870 genome.wustl.edu 37 5 176859762 176859762 + Missense_Mutation SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 5 176859762 176859762 G T SNP GRK6 ENST00000528793 human ensembl 70_37 +1 known missense c.395 p.R132L 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors GRK6 HGNC GSG1 83445 genome.wustl.edu 37 12 13243620 13243620 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 12 13243620 13243620 G A SNP GSG1 ENST00000324458 human ensembl 70_37 -1 known missense c.181 p.P61S 1.000 pfam_GSG-1 pfam_GSG-1 - no_errors GSG1 HGNC HECTD4 283450 genome.wustl.edu 37 12 112605159 112605159 + Missense_Mutation SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 12 112605159 112605159 C A SNP HECTD4 ENST00000377560 human ensembl 70_37 -1 known missense c.11980 p.D3994Y 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC HEG1 57493 genome.wustl.edu 37 3 124739958 124739958 + Silent SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 3 124739958 124739958 C T SNP HEG1 ENST00000311127 human ensembl 70_37 -1 known silent c.930 p.E310 0.001 NULL pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HEG1 HGNC HIPK4 147746 genome.wustl.edu 37 19 40895762 40895762 + Silent SNP G G C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 19 40895762 40895762 G C SNP HIPK4 ENST00000291823 human ensembl 70_37 -1 known silent c.48 p.V16 0.986 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors HIPK4 HGNC HNRNPK 3190 genome.wustl.edu 37 9 86585658 86585658 + Silent SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 9 86585658 86585658 G A SNP HNRNPK ENST00000376263 human ensembl 70_37 -1 known silent c.1185 p.P395 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_ROK_N,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HNRNPK HGNC ITGA5 3678 genome.wustl.edu 37 12 54793645 54793646 + Splice_Site INS - - A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 12 54793645 54793646 - A INS ITGA5 ENST00000293379 human ensembl 70_37 -1 known splice_site_ins c.2727+2_2727+1 e26+2 0.966:0.998 - - - no_errors ITGA5 HGNC ITPKB 3707 genome.wustl.edu 37 1 226829634 226829634 + Silent SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 226829634 226829634 G A SNP ITPKB ENST00000272117 human ensembl 70_37 -1 known silent c.2439 p.I813 0.995 pfam_IPK pfam_IPK - no_errors ITPKB HGNC KDM4E 390245 genome.wustl.edu 37 11 94759882 94759882 + Silent SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 94759882 94759882 C T SNP KDM4E ENST00000450979 human ensembl 70_37 +1 known silent c.1161 p.S387 0.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4E HGNC KIAA0907 22889 genome.wustl.edu 37 1 155899543 155899543 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 155899543 155899543 G A SNP KIAA0907 ENST00000368321 human ensembl 70_37 -1 known missense c.344 p.T115I 1.000 NULL NULL - no_errors KIAA0907 HGNC KIAA1217 56243 genome.wustl.edu 37 10 24835135 24835135 + Nonsense_Mutation SNP C C G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 10 24835135 24835135 C G SNP KIAA1217 ENST00000376454 human ensembl 70_37 +1 known nonsense c.5714 p.S1905* 0.924 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC KIAA2026 158358 genome.wustl.edu 37 9 5921188 5921188 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 9 5921188 5921188 G A SNP KIAA2026 ENST00000399933 human ensembl 70_37 -1 novel missense c.4808 p.T1603I 0.154 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC KIF4A 24137 genome.wustl.edu 37 X 69521874 69521874 + Missense_Mutation SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 X 69521874 69521874 C A SNP KIF4A ENST00000374403 human ensembl 70_37 +1 known missense c.641 p.A214D 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4A HGNC KLHL29 114818 genome.wustl.edu 37 2 23929507 23929507 + Silent SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 2 23929507 23929507 G T SNP KLHL29 ENST00000486442 human ensembl 70_37 +1 known silent c.2601 p.V867 1.000 smart_Kelch_1 pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL29 HGNC KRT16P3 644945 genome.wustl.edu 37 17 20404880 20404880 + RNA SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 17 20404880 20404880 G T SNP KRT16P3 ENST00000580621 human ensembl 70_37 -1 known rna NULL NULL 0.202 - - - no_errors KRT16P3 HGNC LACC1 144811 genome.wustl.edu 37 13 44455579 44455579 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 13 44455579 44455579 C T SNP LACC1 ENST00000325686 human ensembl 70_37 +1 known missense c.458 p.T153I 0.181 NULL pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat - no_errors LACC1 HGNC LAMB2 3913 genome.wustl.edu 37 3 49160566 49160566 + Missense_Mutation SNP A A G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 3 49160566 49160566 A G SNP LAMB2 ENST00000305544 human ensembl 70_37 -1 known missense c.4223 p.L1408P 1.000 NULL pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC LILRA2 11027 genome.wustl.edu 37 19 55086222 55086222 + Nonsense_Mutation SNP C C G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 19 55086222 55086222 C G SNP LILRA2 ENST00000251377 human ensembl 70_37 +1 known nonsense c.377 p.S126* 0.228 pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors LILRA2 HGNC LOC644090 644090 genome.wustl.edu 37 7 151507895 151507895 + RNA SNP A A G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 7 151507895 151507895 A G SNP LOC644090 ENST00000462083 human ensembl 70_37 +1 known rna NULL NULL 0.465 - - - no_errors RP13-452N2.1 Clone_based_vega_gene LPIN2 9663 genome.wustl.edu 37 18 2931377 2931377 + Missense_Mutation SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 18 2931377 2931377 G T SNP LPIN2 ENST00000261596 human ensembl 70_37 -1 known missense c.1333 p.Q445K 1.000 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN2 HGNC LRFN5 145581 genome.wustl.edu 37 14 42077623 42077623 + RNA SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 14 42077623 42077623 G A SNP LRFN5 ENST00000553926 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors LRFN5 HGNC LTK 4058 genome.wustl.edu 37 15 41797410 41797410 + Missense_Mutation SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 15 41797410 41797410 G T SNP LTK ENST00000263800 human ensembl 70_37 -1 known missense c.1921 p.H641N 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LTK HGNC LYRM4 57128 genome.wustl.edu 37 6 5144479 5144479 + Silent SNP T T C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 6 5144479 5144479 T C SNP LYRM4 ENST00000464010 human ensembl 70_37 -1 putative silent c.225 p.T75 0.000 NULL pfam_Complex1_LYR - no_errors LYRM4 HGNC MDGA2 161357 genome.wustl.edu 37 14 47566263 47566263 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 14 47566263 47566263 G A SNP MDGA2 ENST00000399232 human ensembl 70_37 -1 known missense c.989 p.T330I 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like - no_errors MDGA2 HGNC MDN1 23195 genome.wustl.edu 37 6 90455255 90455255 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 6 90455255 90455255 C T SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.3995 p.C1332Y 0.995 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC METTL25 84190 genome.wustl.edu 37 12 82752432 82752432 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 12 82752432 82752432 G A SNP METTL25 ENST00000248306 human ensembl 70_37 +1 known missense c.88 p.A30T 0.919 NULL NULL - no_errors METTL25 HGNC MFSD5 84975 genome.wustl.edu 37 12 53647154 53647154 + Missense_Mutation SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 12 53647154 53647154 C A SNP MFSD5 ENST00000534842 human ensembl 70_37 +1 known missense c.856 p.H286N 0.998 pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD5 HGNC MOV10L1 54456 genome.wustl.edu 37 22 50599405 50599405 + Missense_Mutation SNP G G C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 22 50599405 50599405 G C SNP MOV10L1 ENST00000262794 human ensembl 70_37 +1 known missense c.3475 p.G1159R 0.909 NULL superfamily_NA-bd_OB-fold-like - no_errors MOV10L1 HGNC MPHOSPH6 10200 genome.wustl.edu 37 16 82203748 82203748 + Missense_Mutation SNP C C G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 16 82203748 82203748 C G SNP MPHOSPH6 ENST00000258169 human ensembl 70_37 -1 known missense c.33 p.K11N 1.000 pfam_MPP6 pfam_MPP6 - no_errors MPHOSPH6 HGNC MTX2 10651 genome.wustl.edu 37 2 177188191 177188191 + Silent SNP T T G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 2 177188191 177188191 T G SNP MTX2 ENST00000249442 human ensembl 70_37 +1 known silent c.207 p.S69 1.000 pfam_Tom37/metaxin,superfamily_Thioredoxin-like_fold pfam_Tom37/metaxin,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors MTX2 HGNC MUC16 94025 genome.wustl.edu 37 19 9014541 9014541 + Missense_Mutation SNP A A G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 19 9014541 9014541 A G SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.38434 p.Y12812H 0.994 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MYBPC2 4606 genome.wustl.edu 37 19 50957284 50957284 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 19 50957284 50957284 C T SNP MYBPC2 ENST00000357701 human ensembl 70_37 +1 known missense c.1757 p.T586M 0.017 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC2 HGNC NAV3 89795 genome.wustl.edu 37 12 78562612 78562612 + Missense_Mutation SNP G G C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 12 78562612 78562612 G C SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known missense c.4947 p.Q1649H 0.998 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC NCKAP5 344148 genome.wustl.edu 37 2 133489419 133489419 + Silent SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 2 133489419 133489419 G A SNP NCKAP5 ENST00000317721 human ensembl 70_37 -1 known silent c.5334 p.D1778 0.007 NULL NULL - no_errors NCKAP5 HGNC NFKBIE 4794 genome.wustl.edu 37 6 44233388 44233388 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 6 44233388 44233388 C T SNP NFKBIE ENST00000275015 human ensembl 70_37 -1 known missense c.113 p.R38Q 0.899 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 NFKBIE HGNC NKG7 4818 genome.wustl.edu 37 19 51875736 51875736 + Silent SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 19 51875736 51875736 G A SNP NKG7 ENST00000221978 human ensembl 70_37 -1 known silent c.54 p.F18 0.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin - no_errors NKG7 HGNC NLRP1 22861 genome.wustl.edu 37 17 5463357 5463357 + Missense_Mutation SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 17 5463357 5463357 C A SNP NLRP1 ENST00000572272 human ensembl 70_37 -1 known missense c.659 p.R220I 0.001 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC NLRP13 126204 genome.wustl.edu 37 19 56423094 56423094 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 19 56423094 56423094 C T SNP NLRP13 ENST00000342929 human ensembl 70_37 -1 known missense c.2089 p.E697K 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC NLRP13 126204 genome.wustl.edu 37 19 56423238 56423238 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 19 56423238 56423238 C T SNP NLRP13 ENST00000342929 human ensembl 70_37 -1 known missense c.1945 p.D649N 0.874 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC NLRP13 126204 genome.wustl.edu 37 19 56423490 56423490 + Missense_Mutation SNP C C G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 19 56423490 56423490 C G SNP NLRP13 ENST00000342929 human ensembl 70_37 -1 known missense c.1693 p.E565Q 0.535 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC NLRP3 114548 genome.wustl.edu 37 1 247582049 247582049 + RNA SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 247582049 247582049 G T SNP NLRP3 ENST00000474792 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NLRP3 HGNC NLRP3 114548 genome.wustl.edu 37 1 247587658 247587658 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 247587658 247587658 G A SNP NLRP3 ENST00000336119 human ensembl 70_37 +1 known missense c.913 p.D305N 0.998 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP3 HGNC NNMT 4837 genome.wustl.edu 37 11 114167330 114167330 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 114167330 114167330 C T SNP NNMT ENST00000299964 human ensembl 70_37 +1 known missense c.52 p.R18W 0.097 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors NNMT HGNC NOS1AP 9722 genome.wustl.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 162326888 162326890 CAG - DEL NOS1AP ENST00000361897 human ensembl 70_37 +1 known in_frame_del c.901_903 p.Q304in_frame_del 1.000:1.000:1.000 NULL pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom - no_errors NOS1AP HGNC NOTCH3 4854 genome.wustl.edu 37 19 15292550 15292550 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 19 15292550 15292550 G A SNP NOTCH3 ENST00000263388 human ensembl 70_37 -1 known missense c.2629 p.P877S 0.005 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom - no_errors NOTCH3 HGNC NPLOC4 55666 genome.wustl.edu 37 17 79564302 79564302 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 17 79564302 79564302 C T SNP NPLOC4 ENST00000374747 human ensembl 70_37 -1 known missense c.962 p.R321Q 1.000 pfam_NPL4,pirsf_PolyUb_recognition_cplx_Npl4 pfam_NPL4,pfam_NPL4_Zn-bd_put,pfam_Npl4_Ub-like_dom,pirsf_PolyUb_recognition_cplx_Npl4 - no_errors NPLOC4 HGNC NT5C1B 93034 genome.wustl.edu 37 2 18768822 18768822 + Missense_Mutation SNP C C G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 2 18768822 18768822 C G SNP NT5C1B ENST00000359846 human ensembl 70_37 -1 known missense c.67 p.E23Q 0.272 NULL pfam_5-nucleotidase - no_errors NT5C1B HGNC NXPE2 120406 genome.wustl.edu 37 11 114578298 114578298 + RNA SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 114578298 114578298 C T SNP NXPE2 ENST00000541074 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NXPE2 HGNC OR10W1 81341 genome.wustl.edu 37 11 58034493 58034493 + Missense_Mutation SNP T T G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 58034493 58034493 T G SNP OR10W1 ENST00000395079 human ensembl 70_37 -1 known missense c.838 p.I280L 0.994 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10W1 HGNC OR8K5 219453 genome.wustl.edu 37 11 55927228 55927228 + Missense_Mutation SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 55927228 55927228 C A SNP OR8K5 ENST00000313447 human ensembl 70_37 -1 known missense c.566 p.C189F 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K5 HGNC PAMR1 25891 genome.wustl.edu 37 11 35454018 35454018 + Nonsense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 35454018 35454018 C T SNP PAMR1 ENST00000278360 human ensembl 70_37 -1 known nonsense c.2100 p.W700* 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_EG-like_dom,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PAMR1 HGNC PCDHGA2 56113 genome.wustl.edu 37 5 140720206 140720206 + Silent SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 5 140720206 140720206 C T SNP PCDHGA2 ENST00000394576 human ensembl 70_37 +1 known silent c.1668 p.N556 0.364 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA2 HGNC PDXDC2P 283970 genome.wustl.edu 37 16 70055830 70055830 + RNA SNP G G C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 16 70055830 70055830 G C SNP PDXDC2P ENST00000525331 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PDXDC2P HGNC PEX11A 8800 genome.wustl.edu 37 15 90226789 90226789 + Missense_Mutation SNP A A G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 15 90226789 90226789 A G SNP PEX11A ENST00000300056 human ensembl 70_37 -1 known missense c.563 p.L188P 0.976 pfam_PEX11 pfam_PEX11 - no_errors PEX11A HGNC PLEK2 26499 genome.wustl.edu 37 14 67854156 67854156 + Nonsense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 14 67854156 67854156 G A SNP PLEK2 ENST00000216446 human ensembl 70_37 -1 known nonsense c.952 p.Q318* 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,pfam_DEP_dom,smart_Pleckstrin_homology,smart_DEP_dom,pfscan_DEP_dom,pfscan_Pleckstrin_homology - no_errors PLEK2 HGNC PLEKHA5 54477 genome.wustl.edu 37 12 19282988 19282988 + Silent SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 12 19282988 19282988 G A SNP PLEKHA5 ENST00000317589 human ensembl 70_37 +1 known silent c.93 p.E31 1.000 superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP pfam_Pleckstrin_homology,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP - no_errors PLEKHA5 HGNC PPFIA1 8500 genome.wustl.edu 37 11 70221172 70221172 + Silent SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 70221172 70221172 G T SNP PPFIA1 ENST00000253925 human ensembl 70_37 +1 known silent c.3288 p.L1096 0.001 pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA1 HGNC PPP1R16B 26051 genome.wustl.edu 37 20 37536814 37536814 + Missense_Mutation SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 20 37536814 37536814 C A SNP PPP1R16B ENST00000299824 human ensembl 70_37 +1 known missense c.1172 p.T391K 1.000 pirsf_Pase-1_reg_su_16AB_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R16B HGNC PRDM11 56981 genome.wustl.edu 37 11 45203391 45203391 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 45203391 45203391 C T SNP PRDM11 ENST00000263765 human ensembl 70_37 +1 known missense c.176 p.T59M 0.998 NULL pfscan_SET_dom - no_errors PRDM11 HGNC PTPRF 5792 genome.wustl.edu 37 1 44088218 44088218 + RNA SNP G G C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 44088218 44088218 G C SNP PTPRF ENST00000477970 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors PTPRF HGNC RPL29 6159 genome.wustl.edu 37 3 52027880 52027880 + Frame_Shift_Del DEL T T - TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 3 52027880 52027880 T - DEL RPL29 ENST00000294189 human ensembl 70_37 -1 known frame_shift_del c.365 p.K122fs 0.982 NULL pfam_Ribosomal_L29e - no_errors RPL29 HGNC RPRD2 23248 genome.wustl.edu 37 1 150443762 150443762 + Silent SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 150443762 150443762 C A SNP RPRD2 ENST00000369068 human ensembl 70_37 +1 known silent c.2338 p.R780 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_RNA_polymerase_II_lsu_CTD - no_errors RPRD2 HGNC SCRIB 23513 genome.wustl.edu 37 8 144896051 144896051 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 8 144896051 144896051 G A SNP SCRIB ENST00000320476 human ensembl 70_37 -1 known missense c.293 p.P98L 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC SCUBE1 80274 genome.wustl.edu 37 22 43606203 43606203 + Silent SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 22 43606203 43606203 G T SNP SCUBE1 ENST00000360835 human ensembl 70_37 -1 known silent c.2427 p.I809 0.993 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_EGF-like_Ca-bd,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors SCUBE1 HGNC SFTPA1 653509 genome.wustl.edu 37 10 81373001 81373001 + Missense_Mutation SNP C C G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 10 81373001 81373001 C G SNP SFTPA1 ENST00000419470 human ensembl 70_37 +1 known missense c.394 p.Q132E 0.836 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors SFTPA1 HGNC SHKBP1 92799 genome.wustl.edu 37 19 41096211 41096211 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 19 41096211 41096211 G A SNP SHKBP1 ENST00000291842 human ensembl 70_37 +1 known missense c.1651 p.E551K 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_T1-type_BTB,pfam_WD40_repeat,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors SHKBP1 HGNC SHOX 6473 genome.wustl.edu 37 X 595405 595405 + Silent SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 X 595405 595405 C T SNP SHOX ENST00000381578 human ensembl 70_37 +1 known silent c.330 p.D110 1.000 superfamily_Homeodomain-like pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain,prints_HTH_motif - no_errors SHOX HGNC SLC17A9 63910 genome.wustl.edu 37 20 61588825 61588825 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 20 61588825 61588825 C T SNP SLC17A9 ENST00000370351 human ensembl 70_37 +1 known missense c.290 p.A97V 0.997 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A9 HGNC SLC38A2 54407 genome.wustl.edu 37 12 46759016 46759016 + Missense_Mutation SNP C C G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 12 46759016 46759016 C G SNP SLC38A2 ENST00000551374 human ensembl 70_37 -1 novel missense c.34 p.E12Q 0.017 NULL pfam_AA_transpt_TM - no_errors SLC38A2 HGNC SLC4A10 57282 genome.wustl.edu 37 2 162281186 162281186 + RNA SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 2 162281186 162281186 C T SNP SLC4A10 ENST00000482861 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SLC4A10 HGNC SLC4A1AP 22950 genome.wustl.edu 37 2 27898427 27898427 + Nonsense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 2 27898427 27898427 G A SNP SLC4A1AP ENST00000326019 human ensembl 70_37 +1 known nonsense c.1374 p.W458* 1.000 NULL pfam_FHA_dom,pfam_Ds-RNA-bd,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SLC4A1AP HGNC SMCR8 140775 genome.wustl.edu 37 17 18219778 18219778 + Silent SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 17 18219778 18219778 C T SNP SMCR8 ENST00000406438 human ensembl 70_37 +1 known silent c.675 p.Y225 0.991 NULL pfam_Folliculin - no_errors SMCR8 HGNC SMG1 23049 genome.wustl.edu 37 16 18849988 18849988 + Silent SNP G G C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 16 18849988 18849988 G C SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known silent c.6969 p.V2323 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC SPATA13 221178 genome.wustl.edu 37 13 24868965 24868965 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 13 24868965 24868965 G A SNP SPATA13 ENST00000382108 human ensembl 70_37 +1 known missense c.3169 p.D1057N 1.000 superfamily_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors SPATA13 HGNC ST8SIA4 7903 genome.wustl.edu 37 5 100191850 100191850 + Nonsense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 5 100191850 100191850 G A SNP ST8SIA4 ENST00000231461 human ensembl 70_37 -1 known nonsense c.754 p.R252* 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA4 HGNC STOML3 161003 genome.wustl.edu 37 13 39542567 39542567 + Silent SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 13 39542567 39542567 C T SNP STOML3 ENST00000379631 human ensembl 70_37 -1 known silent c.621 p.E207 1.000 pfam_Band_7,smart_Band_7,prints_Stomatin pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors STOML3 HGNC STRA6 64220 genome.wustl.edu 37 15 74486261 74486261 + Silent SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 15 74486261 74486261 G T SNP STRA6 ENST00000563965 human ensembl 70_37 -1 known silent c.717 p.I239 0.999 NULL NULL - no_errors STRA6 HGNC SULT1C4 27233 genome.wustl.edu 37 2 108999913 108999913 + Missense_Mutation SNP G G C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 2 108999913 108999913 G C SNP SULT1C4 ENST00000272452 human ensembl 70_37 +1 known missense c.562 p.E188Q 0.813 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT1C4 HGNC TARBP1 6894 genome.wustl.edu 37 1 234536926 234536926 + Splice_Site SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 234536926 234536926 C A SNP TARBP1 ENST00000040877 human ensembl 70_37 -1 known splice_site c.4071+1 e25+1 1.000 - - - no_errors TARBP1 HGNC TAS1R2 80834 genome.wustl.edu 37 1 19180891 19180891 + Missense_Mutation SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 19180891 19180891 G T SNP TAS1R2 ENST00000375371 human ensembl 70_37 -1 novel missense c.1073 p.T358N 0.995 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC TBC1D20 128637 genome.wustl.edu 37 20 418073 418073 + RNA SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 20 418073 418073 G T SNP TBC1D20 ENST00000461188 human ensembl 70_37 -1 known rna NULL NULL 0.129 - - - no_errors TBC1D20 HGNC TBC1D24 57465 genome.wustl.edu 37 16 2547037 2547037 + Silent SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 16 2547037 2547037 C A SNP TBC1D24 ENST00000293970 human ensembl 70_37 +1 known silent c.888 p.S296 0.997 superfamily_Rab-GTPase-TBC_dom pfam_TLDc,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,smart_TLDc - no_errors TBC1D24 HGNC TBCB 1155 genome.wustl.edu 37 19 36606994 36606994 + Missense_Mutation SNP C C G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 19 36606994 36606994 C G SNP TBCB ENST00000221855 human ensembl 70_37 +1 known missense c.166 p.L56V 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors TBCB HGNC TCN1 6947 genome.wustl.edu 37 11 59620777 59620777 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 59620777 59620777 C T SNP TCN1 ENST00000257264 human ensembl 70_37 -1 known missense c.1139 p.R380H 0.000 NULL pfam_Cbl-bd_transpt_euk - no_errors TCN1 HGNC TERT 7015 genome.wustl.edu 37 5 1280343 1280343 + Missense_Mutation SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 5 1280343 1280343 G T SNP TERT ENST00000310581 human ensembl 70_37 -1 known missense c.1880 p.P627H 0.090 pfscan_RVT pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT - no_errors TERT HGNC TEX11 56159 genome.wustl.edu 37 X 69772050 69772050 + Missense_Mutation SNP A A G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 X 69772050 69772050 A G SNP TEX11 ENST00000344304 human ensembl 70_37 -1 known missense c.2491 p.S831P 0.000 NULL pfam_Meiosis_specific_SPO22,smart_TPR_repeat - no_errors TEX11 HGNC TEX15 56154 genome.wustl.edu 37 8 30717450 30717450 + RNA SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 8 30717450 30717450 C A SNP TEX15 ENST00000523186 human ensembl 70_37 -1 known rna NULL NULL 0.517 - - - no_errors TEX15 HGNC TGFBR2 7048 genome.wustl.edu 37 3 30691762 30691762 + Nonsense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 3 30691762 30691762 G A SNP TGFBR2 ENST00000359013 human ensembl 70_37 +1 known nonsense c.339 p.W113* 1.000 pfam_Transforming_GF_b_rcpt_2_ecto,pirsf_Transform_growth_fac-b_typ-2 pfam_Transforming_GF_b_rcpt_2_ecto,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,pirsf_Transform_growth_fac-b_typ-2,prints_Activin_II/TGFBeta-II_recpt,pfscan_Prot_kinase_cat_dom - no_errors TGFBR2 HGNC THOP1 7064 genome.wustl.edu 37 19 2805036 2805036 + Silent SNP G G C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 19 2805036 2805036 G C SNP THOP1 ENST00000307741 human ensembl 70_37 +1 known silent c.612 p.L204 0.998 NULL pfam_Pept_M3A_M3B - no_errors THOP1 HGNC TM4SF19 116211 genome.wustl.edu 37 3 196050851 196050851 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 3 196050851 196050851 C T SNP TM4SF19 ENST00000273695 human ensembl 70_37 -1 known missense c.467 p.R156H 0.005 pfam_L6_membrane pfam_L6_membrane - no_errors TM4SF19 HGNC TMED8 283578 genome.wustl.edu 37 14 77808308 77808308 + Missense_Mutation SNP C C G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 14 77808308 77808308 C G SNP TMED8 ENST00000216468 human ensembl 70_37 -1 known missense c.784 p.E262Q 1.000 superfamily_GOLD,pfscan_GOLD superfamily_GOLD,pfscan_GOLD - no_errors TMED8 HGNC TMEM117 84216 genome.wustl.edu 37 12 44782997 44782997 + RNA SNP T T A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 12 44782997 44782997 T A SNP TMEM117 ENST00000546978 human ensembl 70_37 +1 known rna NULL NULL 0.974 - - - no_errors TMEM117 HGNC TMEM39B 55116 genome.wustl.edu 37 1 32541383 32541383 + Missense_Mutation SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 32541383 32541383 G T SNP TMEM39B ENST00000336294 human ensembl 70_37 +1 known missense c.311 p.W104L 1.000 pfam_Uncharacterised_TMEM39 pfam_Uncharacterised_TMEM39 - no_errors TMEM39B HGNC TMTC4 84899 genome.wustl.edu 37 13 101264734 101264734 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 13 101264734 101264734 C T SNP TMTC4 ENST00000342624 human ensembl 70_37 -1 known missense c.1982 p.R661K 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC4 HGNC TMTC4 84899 genome.wustl.edu 37 13 101264747 101264747 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 13 101264747 101264747 C T SNP TMTC4 ENST00000342624 human ensembl 70_37 -1 known missense c.1969 p.E657K 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC4 HGNC TOPBP1 11073 genome.wustl.edu 37 3 133347439 133347439 + Missense_Mutation SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 3 133347439 133347439 C A SNP TOPBP1 ENST00000260810 human ensembl 70_37 -1 known missense c.2659 p.A887S 1.000 NULL pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC TPSG1 25823 genome.wustl.edu 37 16 1272918 1272918 + Splice_Site SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 16 1272918 1272918 C A SNP TPSG1 ENST00000234798 human ensembl 70_37 -1 known splice_site c.246-1 e4-1 0.758 - - - no_errors TPSG1 HGNC TRIM51HP 440041 genome.wustl.edu 37 11 55062922 55062922 + RNA SNP A A G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 55062922 55062922 A G SNP TRIM51HP ENST00000526016 human ensembl 70_37 -1 putative rna NULL NULL 0.002 - - - no_errors TRIM51HP HGNC TRIM58 25893 genome.wustl.edu 37 1 248039700 248039700 + Missense_Mutation SNP T T C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 248039700 248039700 T C SNP TRIM58 ENST00000366481 human ensembl 70_37 +1 known missense c.1370 p.I457T 0.000 superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM58 HGNC TRIM67 440730 genome.wustl.edu 37 1 231334844 231334844 + Missense_Mutation SNP G G C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 231334844 231334844 G C SNP TRIM67 ENST00000366652 human ensembl 70_37 +1 known missense c.1192 p.V398L 1.000 smart_Bbox_C pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM67 HGNC TRIP12 9320 genome.wustl.edu 37 2 230670551 230670551 + Nonsense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 2 230670551 230670551 G A SNP TRIP12 ENST00000389045 human ensembl 70_37 -1 novel nonsense c.1510 p.R504* 1.000 pfam_WWE-dom,superfamily_ARM-type_fold,smart_WWE-dom_subgr,pfscan_WWE-dom pfam_HECT,pfam_WWE-dom,superfamily_HECT,superfamily_ARM-type_fold,smart_WWE-dom_subgr,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC TSC22D4 81628 genome.wustl.edu 37 7 100075164 100075164 + Missense_Mutation SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 7 100075164 100075164 G T SNP TSC22D4 ENST00000300181 human ensembl 70_37 -1 known missense c.498 p.F166L 0.614 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D4 HGNC TTC28 23331 genome.wustl.edu 37 22 28410369 28410369 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 22 28410369 28410369 C T SNP TTC28 ENST00000397906 human ensembl 70_37 -1 novel missense c.4085 p.S1362N 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC28 HGNC TUB 7275 genome.wustl.edu 37 11 8117170 8117170 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 8117170 8117170 C T SNP TUB ENST00000305253 human ensembl 70_37 +1 known missense c.688 p.R230W 0.051 prints_Tubby_N pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C - no_errors TUB HGNC UBE2O 63893 genome.wustl.edu 37 17 74395865 74395865 + Missense_Mutation SNP G G T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 17 74395865 74395865 G T SNP UBE2O ENST00000319380 human ensembl 70_37 -1 known missense c.1293 p.S431R 0.723 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2O HGNC UGGT2 55757 genome.wustl.edu 37 13 96485211 96485211 + Missense_Mutation SNP C C G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 13 96485211 96485211 C G SNP UGGT2 ENST00000376747 human ensembl 70_37 -1 known missense c.4498 p.D1500H 0.814 NULL pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC UGGT2 55757 genome.wustl.edu 37 13 96485250 96485250 + Missense_Mutation SNP C C G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 13 96485250 96485250 C G SNP UGGT2 ENST00000376747 human ensembl 70_37 -1 known missense c.4459 p.E1487Q 1.000 NULL pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC UPP1 7378 genome.wustl.edu 37 7 48146627 48146627 + Silent SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 7 48146627 48146627 C T SNP UPP1 ENST00000331803 human ensembl 70_37 +1 known silent c.594 p.S198 0.001 pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk - no_errors UPP1 HGNC VPS37C 55048 genome.wustl.edu 37 11 60900771 60900771 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 60900771 60900771 C T SNP VPS37C ENST00000301765 human ensembl 70_37 -1 known missense c.304 p.D102N 1.000 pfam_Mod_r pfam_Mod_r - no_errors VPS37C HGNC VPS37C 55048 genome.wustl.edu 37 11 60901632 60901632 + Silent SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 11 60901632 60901632 C T SNP VPS37C ENST00000301765 human ensembl 70_37 -1 known silent c.141 p.R47 0.958 pfam_Mod_r pfam_Mod_r - no_errors VPS37C HGNC VWF 7450 genome.wustl.edu 37 12 6128901 6128901 + Missense_Mutation SNP T T A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 12 6128901 6128901 T A SNP VWF ENST00000261405 human ensembl 70_37 -1 known missense c.3683 p.D1228V 1.000 pirsf_VWF pfam_VWF_type-D,pfam_VWF_A,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_VWF_A,smart_Cys_knot_C,pirsf_VWF,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC XPNPEP1 7511 genome.wustl.edu 37 10 111652824 111652824 + Missense_Mutation SNP T T C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 10 111652824 111652824 T C SNP XPNPEP1 ENST00000502935 human ensembl 70_37 -1 known missense c.256 p.I86V 1.000 pfam_Creatinase pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP1 HGNC YLPM1 56252 genome.wustl.edu 37 14 75266120 75266120 + Nonsense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 14 75266120 75266120 C T SNP YLPM1 ENST00000325680 human ensembl 70_37 +1 known nonsense c.4120 p.R1374* 1.000 NULL superfamily_FH2_actin-bd - no_errors YLPM1 Uniprot_genename ZCCHC12 170261 genome.wustl.edu 37 X 117959931 117959931 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 X 117959931 117959931 G A SNP ZCCHC12 ENST00000310164 human ensembl 70_37 +1 known missense c.724 p.A242T 0.972 NULL superfamily_Znf_CCHC - no_errors ZCCHC12 HGNC ZCCHC17 51538 genome.wustl.edu 37 1 31836882 31836882 + Nonsense_Mutation SNP A A T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 1 31836882 31836882 A T SNP ZCCHC17 ENST00000422613 human ensembl 70_37 +1 known nonsense c.574 p.K192* 1.000 NULL pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors ZCCHC17 HGNC ZER1 10444 genome.wustl.edu 37 9 131497626 131497626 + Silent SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 9 131497626 131497626 G A SNP ZER1 ENST00000291900 human ensembl 70_37 -1 known silent c.2127 p.L709 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo - no_errors ZER1 HGNC ZFP57 346171 genome.wustl.edu 37 6 29641066 29641066 + Silent SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 6 29641066 29641066 G A SNP ZFP57 ENST00000488757 human ensembl 70_37 -1 known silent c.822 p.L274 0.373 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP57 HGNC ZNF519 162655 genome.wustl.edu 37 18 14105758 14105758 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 18 14105758 14105758 C T SNP ZNF519 ENST00000590202 human ensembl 70_37 -1 known missense c.781 p.G261R 1.000 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 ZNF519 HGNC ZNF701 55762 genome.wustl.edu 37 19 53059187 53059187 + RNA SNP G G C TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 19 53059187 53059187 G C SNP ZNF701 ENST00000478039 human ensembl 70_37 +1 known rna NULL NULL 0.942 - - - no_errors ZNF701 HGNC ZNF99 7652 genome.wustl.edu 37 19 22939472 22939472 + Missense_Mutation SNP A A G TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 19 22939472 22939472 A G SNP ZNF99 ENST00000397104 human ensembl 70_37 -1 known missense c.2699 p.F900S 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 ZNF99 HGNC ZSCAN12 9753 genome.wustl.edu 37 6 28358451 28358451 + Missense_Mutation SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7934ac64-f6c7-4305-b8e3-2443a39b55e7 a5ad3742-8d09-4cba-a882-37abf734f166 6 28358451 28358451 C A SNP ZSCAN12 ENST00000361028 human ensembl 70_37 -1 known missense c.1616 p.S539I 0.065 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN12 HGNC