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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ABCC9 0 genome.wustl.edu 37 12 22063221 22063221 + Missense_Mutation SNP C C G TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 12 22063221 22063221 C G SNP ABCC9 ENST00000261200 human ensembl 69_37n -1 known missense c.1190 p.R397T 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC9 HGNC ENSG00000069431 67 0 0.00 28 25 47.17 - - - ALMS1 0 genome.wustl.edu 37 2 73659408 73659408 + Missense_Mutation SNP A A C TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 2 73659408 73659408 A C SNP ALMS1 ENST00000264448 human ensembl 69_37n +1 known missense c.1421 p.H474P 0.001 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 41 0 0.00 37 9 19.57 - - - AMPD1 0 genome.wustl.edu 37 1 115223011 115223011 + Silent SNP G G A TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 1 115223011 115223011 G A SNP AMPD1 ENST00000520113 human ensembl 69_37n -1 known silent c.735 p.D245 0.460 pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD1 HGNC ENSG00000116748 61 0 0.00 26 11 29.73 - - - ARNTL2 0 genome.wustl.edu 37 12 27533206 27533206 + Missense_Mutation SNP G G A TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 12 27533206 27533206 G A SNP ARNTL2 ENST00000266503 human ensembl 69_37n +1 known missense c.353 p.R118Q 1.000 pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd pfam_PAS_fold,pfam_PAS_fold_3,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_DNA-bd,tigrfam_PAS - no_errors ARNTL2 HGNC ENSG00000029153 72 0 0.00 56 14 20.00 - - - CDH24 0 genome.wustl.edu 37 14 23521744 23521744 + Missense_Mutation SNP G G T TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 14 23521744 23521744 G T SNP CDH24 ENST00000267383 human ensembl 69_37n -1 known missense c.1301 p.A434E 0.018 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH24 HGNC ENSG00000139880 36 0 0.00 16 5 23.81 - - - CSHL1 0 genome.wustl.edu 37 17 61987302 61987302 + Missense_Mutation SNP C C T TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 17 61987302 61987302 C T SNP CSHL1 ENST00000561003 human ensembl 69_37n -1 novel missense c.442 p.A148T 0.001 NULL pfam_Somatotropin,superfamily_4_helix_cytokine-like_core - no_errors CSHL1 HGNC ENSG00000204414 87 0 0.00 50 17 25.37 - - - DEGS1 0 genome.wustl.edu 37 1 224377282 224377282 + Missense_Mutation SNP A A G TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 1 224377282 224377282 A G SNP DEGS1 ENST00000323699 human ensembl 69_37n +1 known missense c.86 p.K29R 1.000 pfam_Sphingolipid_d4-desaturase_N,pirsf_Sphingolipid_d4-desaturase pfam_Fatty_acid_desaturase-1,pfam_Sphingolipid_d4-desaturase_N,pirsf_Sphingolipid_d4-desaturase - no_errors DEGS1 HGNC ENSG00000143753 38 0 0.00 45 7 13.46 - - - DNAJC3 0 genome.wustl.edu 37 13 96412387 96412387 + Missense_Mutation SNP G G A TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 13 96412387 96412387 G A SNP DNAJC3 ENST00000376795 human ensembl 69_37n +1 known missense c.640 p.A214T 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_DnaJ_N,smart_TPR_repeat,smart_DnaJ_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC3 HGNC ENSG00000102580 127 0 0.00 89 31 25.83 - - - EBP 0 genome.wustl.edu 37 X 48385405 48385405 + Silent SNP A A T TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb X 48385405 48385405 A T SNP EBP ENST00000495186 human ensembl 69_37n +1 known silent c.330 p.R110 0.990 pfam_EBP pfam_EBP - no_errors EBP HGNC ENSG00000147155 172 0 0.00 73 80 52.29 - - - EFR3A 0 genome.wustl.edu 37 8 132962331 132962331 + Missense_Mutation SNP G G A TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 8 132962331 132962331 G A SNP EFR3A ENST00000254624 human ensembl 69_37n +1 known missense c.482 p.R161Q 0.999 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors EFR3A HGNC ENSG00000132294 99 0 0.00 100 25 20.00 - - - EIF2C1 0 genome.wustl.edu 37 1 36358211 36358211 + Missense_Mutation SNP G G A TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 1 36358211 36358211 G A SNP EIF2C1 ENST00000373204 human ensembl 69_37n +1 known missense c.263 p.R88H 1.000 superfamily_PAZ pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C1 HGNC ENSG00000092847 66 0 0.00 55 11 16.18 - - - ERBB3 0 genome.wustl.edu 37 12 56487649 56487649 + Missense_Mutation SNP G G T TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 12 56487649 56487649 G T SNP ERBB3 ENST00000267101 human ensembl 69_37n +1 known missense c.1582 p.V528F 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Growth_fac_rcpt,smart_Furin_repeat pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ERBB3 HGNC ENSG00000065361 39 0 0.00 31 4 11.43 - - - FAM135B 0 genome.wustl.edu 37 8 139165210 139165210 + Missense_Mutation SNP G G A TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 8 139165210 139165210 G A SNP FAM135B ENST00000395297 human ensembl 69_37n -1 known missense c.1508 p.S503L 0.066 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 91 0 0.00 71 19 21.11 - - - FUZ 0 genome.wustl.edu 37 19 50315962 50315962 + Missense_Mutation SNP C C T TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 19 50315962 50315962 C T SNP FUZ ENST00000313777 human ensembl 69_37n -1 known missense c.143 p.G48E 1.000 NULL NULL - no_errors FUZ HGNC ENSG00000010361 41 0 0.00 35 8 18.60 - - - FXYD3 0 genome.wustl.edu 37 19 35610312 35610312 + Missense_Mutation SNP T T G TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 19 35610312 35610312 T G SNP FXYD3 ENST00000435734 human ensembl 69_37n +1 known missense c.203 p.F68C 0.683 NULL pfam_Ion-transport_regulator_FXYD - no_errors FXYD3 HGNC ENSG00000089356 95 0 0.00 72 18 20.00 - - - IGHV3-72 0 genome.wustl.edu 37 14 107199193 107199193 + Missense_Mutation SNP C C G TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 14 107199193 107199193 C G SNP IGHV3-72 ENST00000433072 human ensembl 69_37n -1 known missense c.96 p.Q32H 0.705 pfam_Ig_V-set,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV3-72 HGNC ENSG00000225698 99 0 0.00 47 29 38.16 - - - KCNK18 0 genome.wustl.edu 37 10 118969342 118969342 + Missense_Mutation SNP G G T TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 10 118969342 118969342 G T SNP KCNK18 ENST00000334549 human ensembl 69_37n +1 known missense c.687 p.E229D 0.401 NULL pfam_Ion_trans_2,prints_2pore_dom_K_chnl - no_errors KCNK18 HGNC ENSG00000186795 83 0 0.00 25 12 32.43 - - - KIAA1549 0 genome.wustl.edu 37 7 138593769 138593769 + Missense_Mutation SNP G G A TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 7 138593769 138593769 G A SNP KIAA1549 ENST00000422774 human ensembl 69_37n -1 known missense c.3244 p.H1082Y 1.000 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 88 0 0.00 57 14 19.44 - - - KIAA2026 0 genome.wustl.edu 37 9 5968121 5968121 + Missense_Mutation SNP G G A TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 9 5968121 5968121 G A SNP KIAA2026 ENST00000399933 human ensembl 69_37n -1 novel missense c.2110 p.R704C 1.000 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 78 0 0.00 87 17 16.35 - - - KRTAP19-4 0 genome.wustl.edu 37 21 31869332 31869332 + Missense_Mutation SNP G G A TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 21 31869332 31869332 G A SNP KRTAP19-4 ENST00000334058 human ensembl 69_37n -1 known missense c.97 p.R33C 0.001 pfam_KRTAP pfam_KRTAP - no_errors KRTAP19-4 HGNC ENSG00000186967 81 0 0.00 54 21 28.00 - - - MAP1A 0 genome.wustl.edu 37 15 43816672 43816672 + Missense_Mutation SNP G G T TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 15 43816672 43816672 G T SNP MAP1A ENST00000399453 human ensembl 69_37n +1 known missense c.3001 p.G1001C 0.999 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 45 0 0.00 28 8 22.22 - - - MAPK8IP1 0 genome.wustl.edu 37 11 45926335 45926335 + Missense_Mutation SNP G G A TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 11 45926335 45926335 G A SNP MAPK8IP1 ENST00000241014 human ensembl 69_37n +1 known missense c.1843 p.V615M 0.999 pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom pfam_PTyr_interaction_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_SH3_domain - no_errors MAPK8IP1 HGNC ENSG00000121653 46 0 0.00 37 5 11.63 - - - OR6K3 0 genome.wustl.edu 37 1 158687491 158687491 + Missense_Mutation SNP G G A TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 1 158687491 158687491 G A SNP OR6K3 ENST00000368146 human ensembl 69_37n -1 known missense c.463 p.R155W 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6K3 HGNC ENSG00000203757 51 0 0.00 52 8 13.33 - - - POTEI 0 genome.wustl.edu 37 2 131258114 131258114 + Silent SNP A A G TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 2 131258114 131258114 A G SNP POTEI ENST00000451531 human ensembl 69_37n -1 novel silent c.912 p.Y304 0.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,prints_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors POTEI HGNC ENSG00000196834 248 0 0.00 113 15 11.72 - - - POU4F2 0 genome.wustl.edu 37 4 147561516 147561516 + Silent SNP C C T TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 4 147561516 147561516 C T SNP POU4F2 ENST00000281321 human ensembl 69_37n +1 known silent c.786 p.A262 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU4F2 HGNC ENSG00000151615 24 0 0.00 6 4 40.00 - - - PTPRB 0 genome.wustl.edu 37 12 71016202 71016202 + Missense_Mutation SNP T T C TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 12 71016202 71016202 T C SNP PTPRB ENST00000334414 human ensembl 69_37n -1 known missense c.676 p.T226A 0.404 NULL pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 119 0 0.00 93 19 16.81 - - - RP1 0 genome.wustl.edu 37 8 55537775 55537775 + Missense_Mutation SNP C C T TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 8 55537775 55537775 C T SNP RP1 ENST00000220676 human ensembl 69_37n +1 known missense c.1333 p.R445C 0.034 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 43 0 0.00 36 14 28.00 - - - RUNX2 0 genome.wustl.edu 37 6 45399750 45399750 + Nonsense_Mutation SNP G G T TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 6 45399750 45399750 G T SNP RUNX2 ENST00000352853 human ensembl 69_37n +1 known nonsense c.778 p.G260* 1.000 pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 78 0 0.00 65 21 24.42 - - - SDK2 0 genome.wustl.edu 37 17 71346499 71346499 + Missense_Mutation SNP G G T TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 17 71346499 71346499 G T SNP SDK2 ENST00000392650 human ensembl 69_37n -1 known missense c.5915 p.S1972Y 0.994 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK2 HGNC ENSG00000069188 52 0 0.00 34 4 10.53 - - - SENP6 0 genome.wustl.edu 37 6 76412369 76412369 + Nonsense_Mutation SNP G G A TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 6 76412369 76412369 G A SNP SENP6 ENST00000370014 human ensembl 69_37n +1 known nonsense c.2297 p.W766* 1.000 pfam_Peptidase_C48,pfscan_Peptidase_C48 pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP6 HGNC ENSG00000112701 70 0 0.00 25 29 52.73 - - - SH3GLB1 0 genome.wustl.edu 37 1 87207920 87207920 + Missense_Mutation SNP A A G TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 1 87207920 87207920 A G SNP SH3GLB1 ENST00000482504 human ensembl 69_37n +1 known missense c.854 p.N285S 1.000 superfamily_SH3_domain pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain - no_errors SH3GLB1 HGNC ENSG00000097033 116 0 0.00 14 55 79.71 - - - SH3PXD2B 0 genome.wustl.edu 37 5 171766138 171766138 + Silent SNP G G A TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 5 171766138 171766138 G A SNP SH3PXD2B ENST00000311601 human ensembl 69_37n -1 known silent c.1971 p.G657 0.552 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2B HGNC ENSG00000174705 89 0 0.00 33 26 42.62 - - - SLC24A3 0 genome.wustl.edu 37 20 19665914 19665915 + Frame_Shift_Del DEL AG AG - TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 20 19665914 19665915 AG - DEL SLC24A3 ENST00000328041 human ensembl 69_37n +1 known frame_shift_del c.1233_1234 p.N413fs 0.306:0.999 tigrfam_K-dep_Na/Ca-exchanger-like pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like - no_errors SLC24A3 HGNC ENSG00000185052 85 0 0.00 39 5 11.36 - - - STAG3 0 genome.wustl.edu 37 7 99802723 99802723 + Missense_Mutation SNP C C T TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 7 99802723 99802723 C T SNP STAG3 ENST00000317296 human ensembl 69_37n +1 known missense c.3047 p.S1016F 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG3 HGNC ENSG00000066923 75 0 0.00 55 14 20.29 - - - TECPR2 0 genome.wustl.edu 37 14 102916920 102916920 + Frame_Shift_Del DEL C C - TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 14 102916920 102916920 C - DEL TECPR2 ENST00000359520 human ensembl 69_37n +1 known frame_shift_del c.3340 p.R1115fs 1.000 superfamily_Reg_csome_cond/b-lactamase_inh pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC ENSG00000196663 85 0 0.00 54 23 29.49 - - - TEX15 0 genome.wustl.edu 37 8 30694937 30694937 + Missense_Mutation SNP G G C TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 8 30694937 30694937 G C SNP TEX15 ENST00000256246 human ensembl 69_37n -1 known missense c.7714 p.Q2572E 0.002 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 61 0 0.00 52 8 13.33 - - - TRANK1 0 genome.wustl.edu 37 3 36900329 36900329 + Missense_Mutation SNP G G T TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 3 36900329 36900329 G T SNP TRANK1 ENST00000429976 human ensembl 69_37n -1 known missense c.1420 p.H474N 0.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 44 0 0.00 30 4 11.76 - - - VPS35 0 genome.wustl.edu 37 16 46694483 46694484 + Frame_Shift_Del DEL CT CT - TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 16 46694483 46694484 CT - DEL VPS35 ENST00000299138 human ensembl 69_37n -1 known frame_shift_del c.2292_2291 p.E764fs 0.997:1.000 superfamily_ARM-type_fold pfam_VPS35,superfamily_ARM-type_fold - no_errors VPS35 HGNC ENSG00000069329 127 0 0.00 86 23 21.10 - - - XIRP2 0 genome.wustl.edu 37 2 168108454 168108454 + Missense_Mutation SNP A A T TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 2 168108454 168108454 A T SNP XIRP2 ENST00000295237 human ensembl 69_37n +1 known missense c.10552 p.S3518C 0.043 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 36 0 0.00 7 6 46.15 - - - ZAN 0 genome.wustl.edu 37 7 100349543 100349543 + Silent SNP C C T TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 7 100349543 100349543 C T SNP ZAN ENST00000546292 human ensembl 69_37n +1 known silent c.1815 p.P605 0.000 NULL pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 408 0 0.00 336 81 19.33 - - - ZIC3 0 genome.wustl.edu 37 X 136651211 136651211 + Missense_Mutation SNP G G A TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb X 136651211 136651211 G A SNP ZIC3 ENST00000287538 human ensembl 69_37n +1 known missense c.1211 p.R404H 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC3 HGNC ENSG00000156925 59 0 0.00 33 7 17.50 - - - ZNF248 0 genome.wustl.edu 37 10 38121863 38121863 + Missense_Mutation SNP A A C TCGA-C8-A26Z-01A-11D-A16D-09 TCGA-C8-A26Z-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa4f7af6-380f-4dbd-ba6a-8c0d22f56a9c 16215f35-017a-47a8-a0d4-1536a45430bb 10 38121863 38121863 A C SNP ZNF248 ENST00000357328 human ensembl 69_37n -1 known missense c.420 p.C140W 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 ZNF248 HGNC ENSG00000198105 84 0 0.00 22 41 65.08 - - -