Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val CEBPE 0 genome.wustl.edu 37 14 23586911 23586911 + Missense_Mutation SNP G G A TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 14 23586911 23586911 G A SNP CEBPE ENST00000206513 human ensembl 74_37 -1 known missense c.631 p.R211W 1.000 pfam_bZIP,smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP pfam_bZIP,smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP - no_errors CEBPE HGNC ENSG00000092067 tier1 - - 62 0 0.00 61 65 50.39 60 0 0.00 27 20 42.55 SLC22A17 0 genome.wustl.edu 37 14 23818512 23818512 + Silent SNP A A G TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 14 23818512 23818512 A G SNP SLC22A17 ENST00000206544 human ensembl 74_37 -1 known silent c.495 p.L165 0.952 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A17 HGNC ENSG00000092096 tier1 - - 20 0 0.00 15 22 59.46 63 0 0.00 23 16 41.03 TPCN2 0 genome.wustl.edu 37 11 68839473 68839473 + Missense_Mutation SNP G G A TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 11 68839473 68839473 G A SNP TPCN2 ENST00000294309 human ensembl 74_37 +1 known missense c.1043 p.G348E 0.000 NULL pfam_Ion_trans_dom - no_errors TPCN2 HGNC ENSG00000162341 tier1 - - 31 0 0.00 28 25 47.17 64 0 0.00 34 29 46.03 OBSCN 0 genome.wustl.edu 37 1 228520994 228520994 + Missense_Mutation SNP C C T TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 1 228520994 228520994 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.15826 p.R5276C 0.995 pfam_Ig_I-set,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 48 0 0.00 52 28 35.00 21 0 0.00 18 13 41.94 KIAA1109 0 genome.wustl.edu 37 4 123175371 123175371 + Missense_Mutation SNP G G A TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 4 123175371 123175371 G A SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.5944 p.D1982N 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 tier1 - - 53 0 0.00 43 7 14.00 55 0 0.00 33 5 13.16 MAP4K5 0 genome.wustl.edu 37 14 50952895 50952895 + Missense_Mutation SNP T T C TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 14 50952895 50952895 T C SNP MAP4K5 ENST00000013125 human ensembl 74_37 -1 known missense c.184 p.I62V 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K5 HGNC ENSG00000012983 tier1 - - 23 0 0.00 32 16 33.33 80 0 0.00 57 32 35.96 DAK 0 genome.wustl.edu 37 11 61113888 61113888 + Silent SNP C C T TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 11 61113888 61113888 C T SNP DAK ENST00000394900 human ensembl 74_37 +1 known silent c.1641 p.I547 1.000 pfam_DhaL_dom,superfamily_DhaL_dom,tigrfam_DhaK_ATP pfam_Dak1,pfam_DhaL_dom,superfamily_DhaL_dom,tigrfam_DhaK_ATP - no_errors DAK HGNC ENSG00000149476 tier1 - - 22 0 0.00 23 23 50.00 17 0 0.00 11 6 35.29 WRAP53 0 genome.wustl.edu 37 17 7592319 7592319 + Missense_Mutation SNP C C T TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 17 7592319 7592319 C T SNP WRAP53 ENST00000316024 human ensembl 74_37 +1 known missense c.353 p.A118V 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WRAP53 HGNC ENSG00000141499 tier1 - - 19 0 0.00 2 48 96.00 88 0 0.00 15 108 85.71 ENSG00000213132 0 genome.wustl.edu 37 3 187896990 187896990 + Missense_Mutation SNP T T C TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 3 187896990 187896990 T C SNP ENSG00000213132 ENST00000392468 human ensembl 74_37 +1 known missense c.19 p.F7L 0.010 NULL NULL - no_errors AC022498.1 Clone_based_ensembl_gene ENSG00000213132 tier1 - - 30 0 0.00 24 24 50.00 62 0 0.00 24 21 46.67 DMD 0 genome.wustl.edu 37 X 31515003 31515003 + Missense_Mutation SNP G G A TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 X 31515003 31515003 G A SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.8449 p.L2817F 1.000 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 - - 35 0 0.00 32 26 44.83 80 0 0.00 43 32 42.67 PRDM2 0 genome.wustl.edu 37 1 14106018 14106018 + Silent SNP T T G TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 1 14106018 14106018 T G SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known silent c.1728 p.T576 1.000 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 tier1 - - 25 0 0.00 26 22 45.83 61 0 0.00 52 27 34.18 SCN2A 0 genome.wustl.edu 37 2 166245346 166245346 + Missense_Mutation SNP T T A TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 2 166245346 166245346 T A SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.5030 p.F1677Y 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 tier1 - - 83 0 0.00 121 114 48.51 62 0 0.00 60 52 46.43 CFH 0 genome.wustl.edu 37 1 196695646 196695646 + Silent SNP T T C TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 1 196695646 196695646 T C SNP CFH ENST00000367429 human ensembl 74_37 +1 known silent c.1920 p.N640 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 tier1 - - 34 0 0.00 21 16 43.24 93 0 0.00 53 30 36.14 GPRIN1 0 genome.wustl.edu 37 5 176025351 176025351 + Silent SNP G G A TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 5 176025351 176025351 G A SNP GPRIN1 ENST00000303991 human ensembl 74_37 -1 known silent c.1485 p.G495 0.000 NULL NULL - no_errors GPRIN1 HGNC ENSG00000169258 tier1 rs147157849 GMAF=0.0005 26 0 0.00 13 13 48.15 111 0 0.00 64 34 34.34 FAM209A 0 genome.wustl.edu 37 20 55093355 55093355 + Splice_Site SNP T T G TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 20 55093355 55093355 T G SNP FAM209A ENST00000481560 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.000 - - - no_errors FAM209A HGNC ENSG00000124103 tier1 - - 15 0 0.00 17 21 55.26 91 0 0.00 42 26 38.24 ARHGEF6 0 genome.wustl.edu 37 X 135827388 135827388 + Missense_Mutation SNP C C A TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 X 135827388 135827388 C A SNP ARHGEF6 ENST00000250617 human ensembl 74_37 -1 known missense c.453 p.K151N 0.996 superfamily_SH3_domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin - no_errors ARHGEF6 HGNC ENSG00000129675 tier1 - - 26 0 0.00 63 14 18.18 137 0 0.00 96 16 14.29 SNORD109A 0 genome.wustl.edu 37 15 25287085 25287085 + R SNP T T A TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 15 25287085 25287085 T A SNP SNORD109A ENST00000604135 human ensembl 74_37 +1 known rna NULL NULL 0.839 - - - no_errors SNORD109A HGNC ENSG00000270246 tier1 - - 44 0 0.00 78 47 37.60 65 0 0.00 47 35 42.68 GPR137B 0 genome.wustl.edu 37 1 236343299 236343299 + Missense_Mutation SNP G G C TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 1 236343299 236343299 G C SNP GPR137B ENST00000366592 human ensembl 74_37 +1 known missense c.808 p.D270H 1.000 NULL NULL - no_errors GPR137B HGNC ENSG00000077585 tier1 - - 22 0 0.00 19 17 47.22 63 0 0.00 20 23 53.49 YES1 0 genome.wustl.edu 37 18 736829 736829 + Missense_Mutation SNP T T A TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 18 736829 736829 T A SNP YES1 ENST00000314574 human ensembl 74_37 -1 known missense c.1270 p.N424Y 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors YES1 HGNC ENSG00000176105 tier1 - - 34 0 0.00 26 34 56.67 58 0 0.00 20 18 47.37 WRAP53 0 genome.wustl.edu 37 17 7592045 7592045 + Frame_Shift_Del DEL C C - TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 17 7592045 7592045 C - DEL WRAP53 ENST00000316024 human ensembl 74_37 +1 known frame_shift_del c.79 p.H28fs 0.345 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WRAP53 HGNC ENSG00000141499 tier1 28 0 0.00 19 267 93.36 84 0 0.00 43 316 88.02 RB1 0 genome.wustl.edu 37 13 48954327 48954328 + Frame_Shift_Del DEL AT AT - TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 AT AT AT - AT AT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 13 48954327 48954328 AT - DEL RB1 ENST00000267163 human ensembl 74_37 +1 known frame_shift_del c.1448_1449 p.M484fs 1.000:1.000 pfam_RB_A,superfamily_Cyclin-like pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 tier1 33 0 0.00 2 25 92.59 42 0 0.00 10 19 65.52 CAMKK2 0 genome.wustl.edu 37 12 121678327 121678328 + In_Frame_Ins INS - - TTT TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 - - - TTT - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 12 121678327 121678328 - TTT INS CAMKK2 ENST00000392474 human ensembl 74_37 -1 known in_frame_ins c.1615_1614 p.538in_frame_insK 0.005:0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMKK2 HGNC ENSG00000110931 tier1 35 0 0.00 36 7 16.28 13 0 0.00 23 3 11.54 ABCC12 0 genome.wustl.edu 37 16 48149490 48149490 + Missense_Mutation SNP G G T TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 16 48149490 48149490 G T SNP ABCC12 ENST00000311303 human ensembl 74_37 -1 known missense c.1825 p.Q609K 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC12 HGNC ENSG00000140798 tier1 - - 32 0 0.00 27 6 18.18 37 0 0.00 9 6 40.00 DBIL5P 0 genome.wustl.edu 37 17 656793 656793 + R SNP T T C TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 17 656793 656793 T C SNP DBIL5P ENST00000536214 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DBIL5P HGNC ENSG00000231784 tier1 - - 18 0 0.00 1 23 95.83 100 0 0.00 8 49 84.48 GLB1L2 0 genome.wustl.edu 37 11 134241002 134241002 + Nonsense_Mutation SNP C C A TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 11 134241002 134241002 C A SNP GLB1L2 ENST00000339772 human ensembl 74_37 +1 known nonsense c.1316 p.S439* 0.000 NULL pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L2 HGNC ENSG00000149328 tier1 - - 30 0 0.00 2 23 92.00 104 1 0.95 3 41 93.18 PKD1 0 genome.wustl.edu 37 16 2159518 2159520 + In_Frame_Del DEL CCG CCG - TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 CCG CCG CCG - CCG CCG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 16 2159518 2159520 CCG - DEL PKD1 ENST00000262304 human ensembl 74_37 -1 known in_frame_del c.5650_5648 p.A1883in_frame_del 1.000:1.000:1.000 superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 tier1 63 0 0.00 53 28 34.57 16 0 0.00 4 9 69.23 POU3F1 0 genome.wustl.edu 37 1 38511693 38511693 + Silent SNP C C T TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 1 38511693 38511693 C T SNP POU3F1 ENST00000373012 human ensembl 74_37 -1 known silent c.723 p.V241 1.000 pirsf_Transcription_factor_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F1 HGNC ENSG00000185668 tier1 - - 30 0 0.00 15 14 48.28 10 0 0.00 7 5 41.67 TIA1 0 genome.wustl.edu 37 2 70441617 70441617 + Frame_Shift_Del DEL T T - TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 2 70441617 70441617 T - DEL TIA1 ENST00000433529 human ensembl 74_37 -1 known frame_shift_del c.898 p.I300fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors TIA1 HGNC ENSG00000116001 tier1 22 0 0.00 10 38 79.17 79 0 0.00 7 34 82.93 ZDBF2 0 genome.wustl.edu 37 2 207173373 207173373 + Missense_Mutation SNP T T C TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 2 207173373 207173373 T C SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known missense c.4121 p.F1374S 0.022 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 tier1 - - 27 0 0.00 2 50 96.15 118 0 0.00 9 88 90.72 ZNF595 0 genome.wustl.edu 37 4 86907 86907 + R SNP G G T TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 4 86907 86907 G T SNP ZNF595 ENST00000339368 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ZNF595 HGNC ENSG00000197701 tier1 - - 16 0 0.00 3 23 88.46 20 0 0.00 2 14 82.35 EYS 0 genome.wustl.edu 37 6 66045003 66045003 + Missense_Mutation SNP C C G TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 6 66045003 66045003 C G SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.1636 p.D546H 0.249 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 12 0 0.00 25 10 28.57 62 0 0.00 60 4 6.25 PKHD1L1 0 genome.wustl.edu 37 8 110456116 110456116 + Silent SNP C C T TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 8 110456116 110456116 C T SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known silent c.4776 p.L1592 0.689 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 - - 39 0 0.00 21 25 54.35 135 2 1.46 60 55 47.83 AUTS2 0 genome.wustl.edu 37 7 70254924 70254924 + Nonsense_Mutation SNP G G T TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 7 70254924 70254924 G T SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known nonsense c.2722 p.E908* 0.999 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 tier1 - - 20 0 0.00 23 5 17.86 10 0 0.00 7 0 0.00 OTOG 0 genome.wustl.edu 37 11 17663399 17663399 + Missense_Mutation SNP G G T TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 11 17663399 17663399 G T SNP OTOG ENST00000399391 human ensembl 74_37 +1 known missense c.8232 p.Q2744H 1.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom - no_errors OTOG HGNC ENSG00000188162 tier1 - - 40 0 0.00 26 4 13.33 15 0 0.00 6 0 0.00 CABLES1 0 genome.wustl.edu 37 18 20716015 20716023 + In_Frame_Del DEL GGCGCCGGC GGCGCCGGC - TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 GGCGCCGGC GGCGCCGGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 18 20716015 20716023 GGCGCCGGC - DEL CABLES1 ENST00000256925 human ensembl 74_37 +1 known in_frame_del c.289_297 p.GGA99in_frame_del 0.983:0.981:0.990:0.998:0.999:0.997:0.999:0.999:0.997 pirsf_Cdk5/c-Abl_linker_Cables pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cdk5/c-Abl_linker_Cables - no_errors CABLES1 HGNC ENSG00000134508 tier1 0 0 0.00 1 0 0.00 0 0 0.00 1 0 0.00 FAM115C 0 genome.wustl.edu 37 7 143417912 143417912 + Silent SNP C C T TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 7 143417912 143417912 C T SNP FAM115C ENST00000409703 human ensembl 74_37 +1 known silent c.1137 p.V379 0.092 NULL NULL - no_errors FAM115C HGNC ENSG00000170379 tier1 - - 59 0 0.00 22 119 84.40 0 0 0.00 0 0 0.00 MUC4 0 genome.wustl.edu 37 3 195513948 195513948 + Silent SNP G G A TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 3 195513948 195513948 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known silent c.4503 p.H1501 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 - - 42 0 0.00 29 18 38.30 0 0 0.00 0 0 0.00 NRXN1 0 genome.wustl.edu 37 2 50147836 50147847 + R DEL GTGTGTGTGTGT GTGTGTGTGTGT - TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 GTGTGTGTGTGT GTGTGTGTGTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 2 50147836 50147847 GTGTGTGTGTGT - DEL NRXN1 ENST00000484192 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001:0.005:0.106:0.113:0.127:0.107:0.109:0.093:0.096:0.025:0.055 - - - no_errors NRXN1 HGNC ENSG00000179915 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 GRHPR 0 genome.wustl.edu 37 9 37430971 37430971 + Missense_Mutation SNP G G T TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 9 37430971 37430971 G T SNP GRHPR ENST00000494290 human ensembl 74_37 +1 known missense c.633 p.E211D 0.000 NULL pfam_D-isomer_2_OHA_DH_D-bd - no_errors GRHPR HGNC ENSG00000137106 tier1 - - 28 0 0.00 46 4 8.00 86 0 0.00 67 2 2.90 ENSG00000234722 0 genome.wustl.edu 37 7 153110008 153110008 + R SNP A A G TCGA-DX-A48L-01A-11D-A307-09 TCGA-DX-A48L-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f55dccaa-44da-4482-93a8-7853325f5bea b83395ce-e95f-4de3-a722-0e785b4e2887 7 153110008 153110008 A G SNP ENSG00000234722 ENST00000416982 human ensembl 74_37 -1 known rna NULL NULL 0.157 - - - no_errors AC073236.3 Clone_based_vega_gene ENSG00000234722 tier1 rs112770540 - 41 0 0.00 90 8 8.16 26 0 0.00 35 2 5.41