Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ANO8 0 genome.wustl.edu 37 19 17441667 17441667 + Missense_Mutation SNP T T A TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 19 17441667 17441667 T A SNP ANO8 ENST00000159087 human ensembl 74_37 -1 known missense c.963 p.E321D 0.884 pfam_Anoctamin pfam_Anoctamin - no_errors ANO8 HGNC ENSG00000074855 20 0 0.00 31 2 6.06 BAIAP2 0 genome.wustl.edu 37 17 79080600 79080600 + Missense_Mutation SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 17 79080600 79080600 G T SNP BAIAP2 ENST00000321300 human ensembl 74_37 +1 known missense c.1393 p.A465S 1.000 NULL pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2 HGNC ENSG00000175866 tier1 - - 35 0 0.00 32 4 11.11 BDH1 0 genome.wustl.edu 37 3 197241153 197241153 + Missense_Mutation SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 3 197241153 197241153 G T SNP BDH1 ENST00000358186 human ensembl 74_37 -1 known missense c.544 p.L182I 0.955 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors BDH1 HGNC ENSG00000161267 tier1 - - 39 0 0.00 57 4 6.56 BDH2 0 genome.wustl.edu 37 4 104013836 104013836 + Missense_Mutation SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 4 104013836 104013836 G T SNP BDH2 ENST00000296424 human ensembl 74_37 -1 known missense c.169 p.L57I 0.948 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect - no_errors BDH2 HGNC ENSG00000164039 28 0 0.00 31 2 6.06 BLOC1S5 0 genome.wustl.edu 37 6 8015416 8015416 + RNA SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 6 8015416 8015416 G T SNP BLOC1S5 ENST00000475998 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors BLOC1S5 HGNC ENSG00000188428 16 0 0.00 15 4 21.05 C17orf66 0 genome.wustl.edu 37 17 34182096 34182096 + Missense_Mutation SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 17 34182096 34182096 G T SNP C17orf66 ENST00000311880 human ensembl 74_37 -1 known missense c.1684 p.L562I 0.000 NULL superfamily_ARM-type_fold - no_errors C17orf66 HGNC ENSG00000172653 tier1 - - 82 0 0.00 63 4 5.97 C8orf12 0 genome.wustl.edu 37 8 11296001 11296001 + Missense_Mutation SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 8 11296001 11296001 G T SNP C8orf12 ENST00000284481 human ensembl 74_37 +1 known missense c.265 p.G89W 0.005 NULL NULL - no_errors C8orf12 HGNC ENSG00000184608 tier1 - - 59 0 0.00 53 4 7.02 CACNA1C 0 genome.wustl.edu 37 12 2742864 2742864 + Missense_Mutation SNP C C G TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 12 2742864 2742864 C G SNP CACNA1C ENST00000347598 human ensembl 74_37 +1 known missense c.3958 p.L1320V 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 35 0 0.00 37 2 5.13 CASS4 0 genome.wustl.edu 37 20 55012582 55012582 + Frame_Shift_Del DEL C C - TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 20 55012582 55012582 C - DEL CASS4 ENST00000360314 human ensembl 74_37 +1 known frame_shift_del c.399 p.D135fs 0.000 NULL pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors CASS4 HGNC ENSG00000087589 tier1 30 0 0.00 32 2 5.88 CCDC60 0 genome.wustl.edu 37 12 119961500 119961500 + Missense_Mutation SNP G G A TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 12 119961500 119961500 G A SNP CCDC60 ENST00000327554 human ensembl 74_37 +1 known missense c.1106 p.R369H 0.373 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 tier1 - - 42 0 0.00 62 4 6.06 CDH11 0 genome.wustl.edu 37 16 65032644 65032644 + Missense_Mutation SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 16 65032644 65032644 G T SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.344 p.T115K 0.995 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 40 0 0.00 36 2 5.13 CDH4 0 genome.wustl.edu 37 20 60498710 60498710 + Silent SNP C C T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 20 60498710 60498710 C T SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known silent c.1576 p.L526 0.980 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 tier1 - - 28 0 0.00 17 4 19.05 CELSR1 0 genome.wustl.edu 37 22 46759904 46759904 + Silent SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 22 46759904 46759904 G T SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known silent c.9024 p.G3008 0.056 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 tier1 - - 31 0 0.00 18 3 14.29 CLCA4 0 genome.wustl.edu 37 1 87025637 87025637 + Missense_Mutation SNP C C T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 1 87025637 87025637 C T SNP CLCA4 ENST00000370563 human ensembl 74_37 +1 known missense c.182 p.T61M 0.010 pfam_Cl_channel_Ca,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA4 HGNC ENSG00000016602 20 0 0.00 23 2 8.00 COQ10A 0 genome.wustl.edu 37 12 56661666 56661666 + Nonsense_Mutation SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 12 56661666 56661666 G T SNP COQ10A ENST00000308197 human ensembl 74_37 +1 known nonsense c.223 p.G75* 1.000 NULL pfam_Polyket_cyc - no_errors COQ10A HGNC ENSG00000135469 23 0 0.00 32 4 11.11 CXCR3 0 genome.wustl.edu 37 X 70836449 70836449 + Silent SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 X 70836449 70836449 G T SNP CXCR3 ENST00000373691 human ensembl 74_37 -1 known silent c.1014 p.G338 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR3 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR3,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_Chemokine_rcpt,prints_ATII_rcpt - no_errors CXCR3 HGNC ENSG00000186810 40 0 0.00 75 4 5.06 CYFIP2 0 genome.wustl.edu 37 5 156819965 156819965 + Missense_Mutation SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 5 156819965 156819965 G T SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known missense c.3794 p.C1265F 1.000 pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 tier1 - - 25 0 0.00 30 4 11.76 DCLRE1C 0 genome.wustl.edu 37 10 14951002 14951002 + Missense_Mutation SNP C C A TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 10 14951002 14951002 C A SNP DCLRE1C ENST00000378278 human ensembl 74_37 -1 known missense c.1484 p.R495I 0.140 NULL pfam_DRMBL - no_errors DCLRE1C HGNC ENSG00000152457 30 0 0.00 19 2 9.52 DIAPH3 0 genome.wustl.edu 37 13 60557938 60557938 + Missense_Mutation SNP C C T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 13 60557938 60557938 C T SNP DIAPH3 ENST00000400324 human ensembl 74_37 -1 known missense c.1445 p.R482Q 1.000 pfam_FH3_dom pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH3 HGNC ENSG00000139734 tier1 - - 82 0 0.00 123 8 6.11 DISP1 0 genome.wustl.edu 37 1 223176007 223176007 + Missense_Mutation SNP C C T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 1 223176007 223176007 C T SNP DISP1 ENST00000284476 human ensembl 74_37 +1 novel missense c.1268 p.A423V 1.000 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 tier1 - - 48 0 0.00 51 4 7.27 DSCAML1 0 genome.wustl.edu 37 11 117340692 117340692 + Silent SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 11 117340692 117340692 G T SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known silent c.3138 p.P1046 0.997 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 43 0 0.00 46 3 6.12 EDEM2 0 genome.wustl.edu 37 20 33714149 33714149 + Missense_Mutation SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 20 33714149 33714149 G T SNP EDEM2 ENST00000374492 human ensembl 74_37 -1 known missense c.874 p.R292S 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM2 HGNC ENSG00000088298 tier1 - - 58 0 0.00 75 4 5.06 ENSG00000216197 0 genome.wustl.edu 37 21 43720386 43720387 + RNA DEL GT GT - TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 21 43720386 43720387 GT - DEL ENSG00000216197 ENST00000401378 human ensembl 74_37 -1 novel rna NULL NULL 0.001:0.000 - - - no_errors AP001623.1 Clone_based_ensembl_gene ENSG00000216197 tier1 17 0 0.00 17 3 15.00 ENSG00000264151 0 genome.wustl.edu 37 18 25081767 25081767 + RNA DEL T T - TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 18 25081767 25081767 T - DEL ENSG00000264151 ENST00000584546 human ensembl 74_37 -1 known rna NULL NULL 0.061 - - - no_errors RP11-739N10.1 Clone_based_vega_gene ENSG00000264151 tier1 10 0 0.00 3 4 57.14 ENSG00000266021 0 genome.wustl.edu 37 9 68997433 68997433 + RNA SNP C C T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 9 68997433 68997433 C T SNP ENSG00000266021 ENST00000583495 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors AL353763.2 Clone_based_ensembl_gene ENSG00000266021 tier1 rs77309871 - 17 0 0.00 16 4 20.00 EPS8 0 genome.wustl.edu 37 12 15784375 15784375 + Splice_Site SNP C C T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 12 15784375 15784375 C T SNP EPS8 ENST00000281172 human ensembl 74_37 -1 known splice_site c.2044+1 e17+1 1.000 - - - no_errors EPS8 HGNC ENSG00000151491 31 0 0.00 28 2 6.67 FAM124B 0 genome.wustl.edu 37 2 225266459 225266459 + Silent SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 2 225266459 225266459 G T SNP FAM124B ENST00000409685 human ensembl 74_37 -1 known silent c.27 p.A9 0.040 NULL NULL - no_errors FAM124B HGNC ENSG00000124019 26 0 0.00 34 2 5.56 FAM45B 0 genome.wustl.edu 37 X 129629717 129629717 + RNA SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 X 129629717 129629717 G T SNP FAM45B ENST00000592932 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors FAM45B HGNC ENSG00000221930 56 0 0.00 68 4 5.56 FAM73B 0 genome.wustl.edu 37 9 131832593 131832593 + Missense_Mutation SNP C C T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 9 131832593 131832593 C T SNP FAM73B ENST00000358369 human ensembl 74_37 +1 known missense c.1643 p.A548V 0.176 pfam_DUF2217 pfam_DUF2217 - no_errors FAM73B HGNC ENSG00000148343 37 0 0.00 32 3 8.57 FBXW7 0 genome.wustl.edu 37 4 153251886 153251886 + Missense_Mutation SNP T T G TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 4 153251886 153251886 T G SNP FBXW7 ENST00000281708 human ensembl 74_37 -1 known missense c.1120 p.K374Q 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 38 0 0.00 47 3 6.00 FGF23 0 genome.wustl.edu 37 12 4479941 4479941 + Missense_Mutation SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 12 4479941 4479941 G T SNP FGF23 ENST00000237837 human ensembl 74_37 -1 known missense c.324 p.F108L 0.992 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF23 HGNC ENSG00000118972 36 0 0.00 36 2 5.26 FMR1 0 genome.wustl.edu 37 X 147010265 147010265 + Missense_Mutation SNP C C A TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 X 147010265 147010265 C A SNP FMR1 ENST00000370475 human ensembl 74_37 +1 known missense c.359 p.P120H 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 FMR1 HGNC ENSG00000102081 tier1 - - 131 0 0.00 119 7 5.56 FST 0 genome.wustl.edu 37 5 52780850 52780850 + Missense_Mutation SNP C C A TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 5 52780850 52780850 C A SNP FST ENST00000256759 human ensembl 74_37 +1 known missense c.745 p.Q249K 1.000 smart_Fol_N pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,superfamily_TB_dom,smart_Fol_N,smart_Kazal_dom - no_errors FST HGNC ENSG00000134363 70 0 0.00 75 4 5.06 GABRG1 0 genome.wustl.edu 37 4 46060257 46060257 + Missense_Mutation SNP G G A TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 4 46060257 46060257 G A SNP GABRG1 ENST00000295452 human ensembl 74_37 -1 known missense c.893 p.A298V 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG1 HGNC ENSG00000163285 tier1 - - 54 0 0.00 59 4 6.25 GLIPR1L2 0 genome.wustl.edu 37 12 75816822 75816822 + Silent SNP A A G TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 12 75816822 75816822 A G SNP GLIPR1L2 ENST00000320460 human ensembl 74_37 +1 known silent c.723 p.K241 0.002 NULL pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors GLIPR1L2 HGNC ENSG00000180481 42 0 0.00 40 6 13.04 GPR113 0 genome.wustl.edu 37 2 26569062 26569062 + Missense_Mutation SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 2 26569062 26569062 G T SNP GPR113 ENST00000333478 human ensembl 74_37 -1 known missense c.41 p.P14H 0.042 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR113 HGNC ENSG00000173567 tier1 - - 55 0 0.00 34 5 12.82 GPR52 0 genome.wustl.edu 37 1 174417596 174417596 + Frame_Shift_Del DEL T T - TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 1 174417596 174417596 T - DEL GPR52 ENST00000367685 human ensembl 74_37 +1 known frame_shift_del c.347 p.F117fs 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR52 HGNC ENSG00000203737 tier1 52 0 0.00 38 2 5.00 GTPBP2 0 genome.wustl.edu 37 6 43589849 43589849 + Missense_Mutation SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 6 43589849 43589849 G T SNP GTPBP2 ENST00000307126 human ensembl 74_37 -1 known missense c.1523 p.A508E 1.000 superfamily_Transl_elong_EF1A/Init_IF2_C pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel - no_errors GTPBP2 HGNC ENSG00000172432 24 0 0.00 39 4 9.30 HELB 0 genome.wustl.edu 37 12 66700275 66700275 + Missense_Mutation SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 12 66700275 66700275 G T SNP HELB ENST00000247815 human ensembl 74_37 +1 known missense c.758 p.W253L 1.000 NULL superfamily_P-loop_NTPase - no_errors HELB HGNC ENSG00000127311 48 0 0.00 68 4 5.56 HJURP 0 genome.wustl.edu 37 2 234749814 234749814 + Nonsense_Mutation SNP G G A TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 2 234749814 234749814 G A SNP HJURP ENST00000411486 human ensembl 74_37 -1 known nonsense c.1612 p.Q538* 0.001 NULL pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N - no_errors HJURP HGNC ENSG00000123485 40 0 0.00 49 4 7.55 HNF1A 0 genome.wustl.edu 37 12 121434647 121434647 + Missense_Mutation SNP A A T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 12 121434647 121434647 A T SNP HNF1A ENST00000543427 human ensembl 74_37 +1 known missense c.1060 p.T354S 0.001 NULL pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HNF1A HGNC ENSG00000135100 tier1 rs113111047 - 22 0 0.00 16 5 23.81 HSD17B7P2 0 genome.wustl.edu 37 10 38654432 38654432 + RNA SNP A A G TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 10 38654432 38654432 A G SNP HSD17B7P2 ENST00000494540 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSD17B7P2 HGNC ENSG00000099251 55 0 0.00 59 4 6.35 HSPG2 0 genome.wustl.edu 37 1 22203105 22203105 + Missense_Mutation SNP C C T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 1 22203105 22203105 C T SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.2726 p.G909D 1.000 pfam_EGF_laminin,smart_EGF_laminin pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 25 0 0.00 47 4 7.84 IL1RAP 0 genome.wustl.edu 37 3 190366259 190366259 + Missense_Mutation SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 3 190366259 190366259 G T SNP IL1RAP ENST00000072516 human ensembl 74_37 +1 known missense c.1478 p.R493L 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ - no_errors IL1RAP HGNC ENSG00000196083 36 0 0.00 49 3 5.77 IL4I1 0 genome.wustl.edu 37 19 50398401 50398401 + Missense_Mutation SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 19 50398401 50398401 G T SNP IL4I1 ENST00000341114 human ensembl 74_37 -1 known missense c.355 p.R119S 1.000 pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_AlaDH/PNT_NAD(H)-bd,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors IL4I1 HGNC ENSG00000104951 56 0 0.00 54 3 5.26 INADL 0 genome.wustl.edu 37 1 62483567 62483567 + Missense_Mutation SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 1 62483567 62483567 G T SNP INADL ENST00000371158 human ensembl 74_37 +1 known missense c.3907 p.A1303S 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 tier1 - - 41 0 0.00 54 4 6.90 INO80D 0 genome.wustl.edu 37 2 206921212 206921212 + Missense_Mutation SNP G G A TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 2 206921212 206921212 G A SNP INO80D ENST00000403263 human ensembl 74_37 -1 known missense c.674 p.P225L 1.000 NULL NULL - no_errors INO80D HGNC ENSG00000114933 26 0 0.00 27 3 10.00 ITGA8 0 genome.wustl.edu 37 10 15701026 15701026 + Missense_Mutation SNP G G A TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 10 15701026 15701026 G A SNP ITGA8 ENST00000378076 human ensembl 74_37 -1 known missense c.920 p.T307M 1.000 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 40 0 0.00 31 3 8.82 ITIH3 0 genome.wustl.edu 37 3 52831209 52831209 + Silent SNP C C T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 3 52831209 52831209 C T SNP ITIH3 ENST00000449956 human ensembl 74_37 +1 known silent c.475 p.L159 1.000 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH3 HGNC ENSG00000162267 28 0 0.00 45 4 8.16 KAT6A 0 genome.wustl.edu 37 8 41791382 41791382 + Silent SNP C C T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 8 41791382 41791382 C T SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known silent c.4356 p.A1452 0.023 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 13 0 0.00 14 2 12.50 KIAA0907 0 genome.wustl.edu 37 1 155893472 155893472 + Frame_Shift_Del DEL G G - TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 1 155893472 155893472 G - DEL KIAA0907 ENST00000368321 human ensembl 74_37 -1 known frame_shift_del c.900 p.K301fs 1.000 NULL NULL - no_errors KIAA0907 HGNC ENSG00000132680 tier1 22 0 0.00 22 2 8.33 KIAA1217 0 genome.wustl.edu 37 10 24784014 24784015 + RNA INS - - A TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 10 24784014 24784015 - A INS KIAA1217 ENST00000460373 human ensembl 74_37 +1 putative rna NULL NULL 0.000:0.000 - - - no_errors KIAA1217 HGNC ENSG00000120549 tier1 15 0 0.00 21 3 12.50 KLHL10 0 genome.wustl.edu 37 17 40004470 40004470 + Nonsense_Mutation SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 17 40004470 40004470 G T SNP KLHL10 ENST00000293303 human ensembl 74_37 +1 known nonsense c.1738 p.E580* 1.000 NULL pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL10 HGNC ENSG00000161594 20 0 0.00 20 2 9.09 KRT16P2 0 genome.wustl.edu 37 17 16734855 16734855 + RNA SNP C C T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 17 16734855 16734855 C T SNP KRT16P2 ENST00000579062 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors KRT16P2 HGNC ENSG00000227300 29 0 0.00 20 3 13.04 LBH 0 genome.wustl.edu 37 2 30480657 30480657 + RNA DEL T T - TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 2 30480657 30480657 T - DEL LBH ENST00000467242 human ensembl 74_37 +1 known rna NULL NULL 0.930 - - - no_errors LBH HGNC ENSG00000213626 tier1 31 0 0.00 26 5 16.13 LMAN1L 0 genome.wustl.edu 37 15 75113535 75113535 + Frame_Shift_Del DEL C C - TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 15 75113535 75113535 C - DEL LMAN1L ENST00000309664 human ensembl 74_37 +1 known frame_shift_del c.1027 p.P344fs 0.000 NULL pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf - no_errors LMAN1L HGNC ENSG00000140506 tier1 30 0 0.00 32 2 5.88 LOC101927806 0 genome.wustl.edu 37 1 17198882 17198882 + RNA SNP C C T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 1 17198882 17198882 C T SNP LOC101927806 ENST00000438002 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors U1 RFAM ENSG00000228549 tier1 rs7367174 - 13 0 0.00 16 7 30.43 LRFN5 0 genome.wustl.edu 37 14 42360920 42360920 + Missense_Mutation SNP C C T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 14 42360920 42360920 C T SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known missense c.1853 p.S618L 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 tier1 rs143897378 - 49 0 0.00 52 4 7.14 LRRIQ1 0 genome.wustl.edu 37 12 85521701 85521701 + Nonsense_Mutation SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 12 85521701 85521701 G T SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known nonsense c.4099 p.E1367* 0.000 superfamily_P-loop_NTPase pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 tier1 - - 48 0 0.00 61 4 6.15 MAML2 0 genome.wustl.edu 37 11 95825365 95825365 + Silent SNP C C T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 11 95825365 95825365 C T SNP MAML2 ENST00000524717 human ensembl 74_37 -1 known silent c.1830 p.Q610 0.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 tier1 - - 23 0 0.00 26 6 18.75 MPPED2 0 genome.wustl.edu 37 11 30432675 30432675 + RNA DEL T T - TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 11 30432675 30432675 T - DEL MPPED2 ENST00000524667 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors MPPED2 HGNC ENSG00000066382 tier1 41 0 0.00 46 5 9.80 MSANTD1 0 genome.wustl.edu 37 4 3251103 3251103 + Missense_Mutation SNP C C T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 4 3251103 3251103 C T SNP MSANTD1 ENST00000438480 human ensembl 74_37 +1 known missense c.154 p.R52C 1.000 NULL NULL - no_errors MSANTD1 HGNC ENSG00000188981 35 0 0.00 30 2 6.25 MTUS1 0 genome.wustl.edu 37 8 17504627 17504627 + RNA DEL A A - TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 8 17504627 17504627 A - DEL MTUS1 ENST00000518889 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors MTUS1 HGNC ENSG00000129422 tier1 28 0 0.00 29 3 9.38 MUC12 0 genome.wustl.edu 37 7 100636960 100636960 + Missense_Mutation SNP C C T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 7 100636960 100636960 C T SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known missense c.3116 p.T1039I 0.024 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 tier1 - - 14 0 0.00 16 7 30.43 MXRA5 0 genome.wustl.edu 37 X 3242902 3242902 + Missense_Mutation SNP C C A TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 X 3242902 3242902 C A SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.824 p.C275F 0.912 smart_Cys-rich_flank_reg_C pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 tier1 - - 46 0 0.00 58 4 6.45 MYO18B 0 genome.wustl.edu 37 22 26422418 26422418 + Missense_Mutation SNP G G A TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 22 26422418 26422418 G A SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.6478 p.E2160K 0.000 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 tier1 - - 26 0 0.00 34 4 10.53 NAV2 0 genome.wustl.edu 37 11 19901631 19901631 + Missense_Mutation SNP C C T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 11 19901631 19901631 C T SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.728 p.A243V 0.997 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 49 0 0.00 46 3 6.12 NCAPD2 0 genome.wustl.edu 37 12 6635718 6635718 + Nonsense_Mutation SNP C C T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 12 6635718 6635718 C T SNP NCAPD2 ENST00000315579 human ensembl 74_37 +1 known nonsense c.2671 p.Q891* 0.996 superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 - no_errors NCAPD2 HGNC ENSG00000010292 tier1 - - 66 0 0.00 50 4 7.41 NCAPG 0 genome.wustl.edu 37 4 17819058 17819058 + Missense_Mutation SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 4 17819058 17819058 G T SNP NCAPG ENST00000251496 human ensembl 74_37 +1 known missense c.950 p.C317F 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NCAPG HGNC ENSG00000109805 tier1 - - 54 0 0.00 44 4 8.33 NGDN 0 genome.wustl.edu 37 14 23945466 23945466 + Missense_Mutation SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 14 23945466 23945466 G T SNP NGDN ENST00000408901 human ensembl 74_37 +1 known missense c.563 p.R188L 1.000 NULL pfam_Sas10/Utp3/C1D - no_errors NGDN HGNC ENSG00000129460 20 0 0.00 35 2 5.41 NRXN2 0 genome.wustl.edu 37 11 64427860 64427860 + Missense_Mutation SNP G G A TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 11 64427860 64427860 G A SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known missense c.2333 p.A778V 0.998 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 39 0 0.00 37 2 5.13 NSL1 0 genome.wustl.edu 37 1 212955391 212955391 + RNA SNP C C T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 1 212955391 212955391 C T SNP NSL1 ENST00000473995 human ensembl 74_37 -1 known rna NULL NULL 0.074 - - - no_errors NSL1 HGNC ENSG00000117697 tier1 - - 53 0 0.00 64 4 5.88 PCDHA6 0 genome.wustl.edu 37 5 140208211 140208211 + Missense_Mutation SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 5 140208211 140208211 G T SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known missense c.535 p.G179W 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 32 0 0.00 36 2 5.26 PDE4D 0 genome.wustl.edu 37 5 58270835 58270835 + Missense_Mutation SNP C C A TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 5 58270835 58270835 C A SNP PDE4D ENST00000340635 human ensembl 74_37 -1 known missense c.2086 p.D696Y 1.000 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,prints_PDEase - no_errors PDE4D HGNC ENSG00000113448 tier1 - - 52 0 0.00 56 4 6.67 PDE6B 0 genome.wustl.edu 37 4 619586 619586 + Silent SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 4 619586 619586 G T SNP PDE6B ENST00000496514 human ensembl 74_37 +1 known silent c.171 p.T57 0.005 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC ENSG00000133256 tier1 - - 43 0 0.00 49 4 7.55 PHC1 0 genome.wustl.edu 37 12 9073601 9073601 + Silent SNP G G A TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 12 9073601 9073601 G A SNP PHC1 ENST00000543824 human ensembl 74_37 +1 known silent c.246 p.R82 0.525 NULL pfam_SAM_type1,pfam_SAM_2,pfam_Znf_MYM,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC1 HGNC ENSG00000111752 42 0 0.00 42 3 6.67 PIK3CA 0 genome.wustl.edu 37 3 178927980 178927980 + Missense_Mutation SNP T T C TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 3 178927980 178927980 T C SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1258 p.C420R 1.000 pfam_PI3K_C2_dom,superfamily_C2_dom,smart_PI3K_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 14 0 0.00 20 2 9.09 PLBD1 0 genome.wustl.edu 37 12 14656853 14656853 + Silent SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 12 14656853 14656853 G T SNP PLBD1 ENST00000240617 human ensembl 74_37 -1 known silent c.1515 p.S505 0.994 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD1 HGNC ENSG00000121316 tier1 - - 74 0 0.00 70 4 5.41 POLR2K 0 genome.wustl.edu 37 8 101164033 101164033 + RNA DEL T T - TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 8 101164033 101164033 T - DEL POLR2K ENST00000519765 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors POLR2K HGNC ENSG00000147669 tier1 50 0 0.00 48 7 12.73 PP2D1 0 genome.wustl.edu 37 3 20042563 20042563 + Missense_Mutation SNP A A G TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 3 20042563 20042563 A G SNP PP2D1 ENST00000389050 human ensembl 74_37 -1 known missense c.1049 p.M350T 0.000 superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PP2D1 HGNC ENSG00000183977 tier1 - - 51 0 0.00 54 4 6.90 PPAP2B 0 genome.wustl.edu 37 1 56962088 56962089 + RNA INS - - T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 1 56962088 56962089 - T INS PPAP2B ENST00000472957 human ensembl 74_37 -1 known rna NULL NULL 0.354:0.869 - - - no_errors PPAP2B HGNC ENSG00000162407 tier1 19 0 0.00 13 3 18.75 RASSF5 0 genome.wustl.edu 37 1 206758622 206758622 + Missense_Mutation SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 1 206758622 206758622 G T SNP RASSF5 ENST00000355294 human ensembl 74_37 +1 known missense c.1099 p.V367L 1.000 pfscan_SARAH_dom pfam_Ras-assoc,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors RASSF5 HGNC ENSG00000136653 tier1 - - 36 0 0.00 38 4 9.52 RBMX 0 genome.wustl.edu 37 X 135930219 135930219 + RNA DEL T T - TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 X 135930219 135930219 T - DEL RBMX ENST00000561733 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RBMX HGNC ENSG00000147274 tier1 21 0 0.00 14 2 12.50 RGS19 0 genome.wustl.edu 37 20 62708299 62708299 + RNA SNP C C T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 20 62708299 62708299 C T SNP RGS19 ENST00000493165 human ensembl 74_37 -1 known rna NULL NULL 0.951 - - - no_errors RGS19 HGNC ENSG00000171700 tier1 - - 60 0 0.00 64 4 5.88 RNF213 0 genome.wustl.edu 37 17 78320934 78320934 + Silent SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 17 78320934 78320934 G T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known silent c.8799 p.A2933 0.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 43 0 0.00 36 2 5.26 RPN1 0 genome.wustl.edu 37 3 128345612 128345612 + Missense_Mutation SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 3 128345612 128345612 G T SNP RPN1 ENST00000296255 human ensembl 74_37 -1 known missense c.1100 p.S367Y 1.000 pfam_Ribophorin_I pfam_Ribophorin_I - no_errors RPN1 HGNC ENSG00000163902 tier1 - - 63 0 0.00 51 4 7.27 SEMA3G 0 genome.wustl.edu 37 3 52474957 52474957 + Missense_Mutation SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 3 52474957 52474957 G T SNP SEMA3G ENST00000231721 human ensembl 74_37 -1 known missense c.921 p.D307E 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3G HGNC ENSG00000010319 22 0 0.00 40 3 6.98 SIMC1 0 genome.wustl.edu 37 5 175717627 175717627 + Missense_Mutation SNP C C T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 5 175717627 175717627 C T SNP SIMC1 ENST00000443967 human ensembl 74_37 +1 known missense c.1043 p.P348L 0.007 NULL NULL - no_errors SIMC1 HGNC ENSG00000170085 tier1 rs151017862 - 41 0 0.00 53 6 10.17 SLC6A4 0 genome.wustl.edu 37 17 28545833 28545833 + Frame_Shift_Del DEL T T - TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 17 28545833 28545833 T - DEL SLC6A4 ENST00000261707 human ensembl 74_37 -1 known frame_shift_del c.460 p.I154fs 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfam_Na/ntran_symport_serotonin_N,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_serotonin_N - no_errors SLC6A4 HGNC ENSG00000108576 tier1 36 0 0.00 30 2 6.25 SLIT1 0 genome.wustl.edu 37 10 98806436 98806436 + Silent SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 10 98806436 98806436 G T SNP SLIT1 ENST00000266058 human ensembl 74_37 -1 known silent c.1828 p.R610 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT1 HGNC ENSG00000187122 tier1 - - 37 0 0.00 34 4 10.53 SPNS3 0 genome.wustl.edu 37 17 4349367 4349367 + Missense_Mutation SNP C C A TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 17 4349367 4349367 C A SNP SPNS3 ENST00000575194 human ensembl 74_37 +1 known missense c.290 p.P97Q 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors SPNS3 HGNC ENSG00000182557 tier1 - - 31 0 0.00 26 4 13.33 SPTAN1 0 genome.wustl.edu 37 9 131394492 131394492 + Silent SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 9 131394492 131394492 G T SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known silent c.6849 p.L2283 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 tier1 - - 52 0 0.00 69 4 5.48 STXBP4 0 genome.wustl.edu 37 17 53150373 53150373 + Missense_Mutation SNP G G A TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 17 53150373 53150373 G A SNP STXBP4 ENST00000376352 human ensembl 74_37 +1 known missense c.1124 p.R375H 1.000 NULL pfam_WW_dom,pfam_PDZ,superfamily_PDZ,superfamily_WW_dom,smart_PDZ,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom - no_errors STXBP4 HGNC ENSG00000166263 48 0 0.00 41 3 6.82 SULT1C2 0 genome.wustl.edu 37 2 108910750 108910750 + Nonsense_Mutation SNP C C T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 2 108910750 108910750 C T SNP SULT1C2 ENST00000326853 human ensembl 74_37 +1 known nonsense c.217 p.R73* 0.802 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1C2 HGNC ENSG00000198203 tier1 - - 53 0 0.00 37 4 9.76 SYNE1 0 genome.wustl.edu 37 6 152473130 152473130 + Silent SNP C C T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 6 152473130 152473130 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.24276 p.L8092 1.000 superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 59 0 0.00 54 4 6.90 TEX13A 0 genome.wustl.edu 37 X 104465114 104465114 + Splice_Site SNP C C A TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 X 104465114 104465114 C A SNP TEX13A ENST00000413579 human ensembl 74_37 -1 known splice_site c.1-1 e1-1 0.001 - - - no_errors TEX13A HGNC ENSG00000133149 17 0 0.00 45 4 8.16 TEX14 0 genome.wustl.edu 37 17 56677018 56677018 + Missense_Mutation SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 17 56677018 56677018 G T SNP TEX14 ENST00000240361 human ensembl 74_37 -1 known missense c.1706 p.P569H 0.002 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors TEX14 HGNC ENSG00000121101 24 0 0.00 37 4 9.76 TLL1 0 genome.wustl.edu 37 4 166915616 166915616 + Missense_Mutation SNP G G A TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 4 166915616 166915616 G A SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.445 p.A149T 1.000 pirsf_BMP_1/tolloid-like pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 44 0 0.00 47 3 6.00 TMPRSS15 0 genome.wustl.edu 37 21 19713732 19713732 + Missense_Mutation SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 21 19713732 19713732 G T SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known missense c.1562 p.P521H 1.000 NULL pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 16 0 0.00 27 2 6.90 TOPBP1 0 genome.wustl.edu 37 3 133347292 133347292 + Missense_Mutation SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 3 133347292 133347292 G T SNP TOPBP1 ENST00000260810 human ensembl 74_37 -1 known missense c.2718 p.H906Q 0.000 pfam_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 66 0 0.00 70 4 5.41 TRMT1L 0 genome.wustl.edu 37 1 185114695 185114695 + Silent SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 1 185114695 185114695 G T SNP TRMT1L ENST00000367506 human ensembl 74_37 -1 known silent c.531 p.T177 1.000 NULL pfam_TRM1,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors TRMT1L HGNC ENSG00000121486 tier1 - - 46 0 0.00 45 4 7.84 TUBA3D 0 genome.wustl.edu 37 2 132240337 132240337 + Missense_Mutation SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 2 132240337 132240337 G T SNP TUBA3D ENST00000321253 human ensembl 74_37 +1 known missense c.1269 p.E423D 1.000 superfamily_Tub_FtsZ_C,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3D HGNC ENSG00000075886 78 0 0.00 77 5 6.10 UBAP2 0 genome.wustl.edu 37 9 33943548 33943548 + Missense_Mutation SNP C C A TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 9 33943548 33943548 C A SNP UBAP2 ENST00000360802 human ensembl 74_37 -1 known missense c.1585 p.V529F 1.000 pfam_DUF3697_Uba2 pfam_DUF3697_Uba2,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2 HGNC ENSG00000137073 tier1 - - 40 0 0.00 51 4 7.27 UFSP2 0 genome.wustl.edu 37 4 186339751 186339751 + Missense_Mutation SNP G G A TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 4 186339751 186339751 G A SNP UFSP2 ENST00000264689 human ensembl 74_37 -1 known missense c.256 p.R86C 1.000 NULL pfam_Peptidase_C78_UfSP1/2 - no_errors UFSP2 HGNC ENSG00000109775 58 0 0.00 55 3 5.17 USP22 0 genome.wustl.edu 37 17 20916228 20916228 + Missense_Mutation SNP C C T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 17 20916228 20916228 C T SNP USP22 ENST00000261497 human ensembl 74_37 -1 known missense c.859 p.A287T 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP22 HGNC ENSG00000124422 tier1 - - 48 0 0.00 53 4 7.02 USP39 0 genome.wustl.edu 37 2 85876225 85876225 + RNA DEL T T - TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 2 85876225 85876225 T - DEL USP39 ENST00000459775 human ensembl 74_37 +1 known rna NULL NULL 0.888 - - - no_errors USP39 HGNC ENSG00000168883 tier1 12 0 0.00 10 10 50.00 USPL1 0 genome.wustl.edu 37 13 31232940 31232940 + Frame_Shift_Del DEL C C - TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 13 31232940 31232940 C - DEL USPL1 ENST00000255304 human ensembl 74_37 +1 known frame_shift_del c.2726 p.P910fs 0.232 NULL pfscan_Peptidase_C19/C67 - no_errors USPL1 HGNC ENSG00000132952 tier1 26 0 0.00 24 2 7.69 YEATS2 0 genome.wustl.edu 37 3 183493744 183493746 + In_Frame_Del DEL GGA GGA - TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 3 183493744 183493746 GGA - DEL YEATS2 ENST00000305135 human ensembl 74_37 +1 known in_frame_del c.2410_2412 p.G807in_frame_del 0.095:0.259:0.259 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ENSG00000163872 tier1 20 0 0.00 23 3 11.54 ZNF135 0 genome.wustl.edu 37 19 58578889 58578889 + Missense_Mutation SNP G G A TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 19 58578889 58578889 G A SNP ZNF135 ENST00000401053 human ensembl 74_37 +1 known missense c.1109 p.R370Q 0.989 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 ZNF135 HGNC ENSG00000176293 42 0 0.00 39 4 9.30 ZNF783 0 genome.wustl.edu 37 7 148984661 148984661 + Nonsense_Mutation SNP G G A TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b5a32ec3-2a12-4644-9a15-4659b1c623ef b1a9378f-00d1-4db7-867f-73fe4beff8e6 7 148984661 148984661 G A SNP ZNF783 ENST00000418158 human ensembl 74_37 +1 known nonsense c.30 p.W10* 0.024 NULL NULL - no_errors ZNF783 HGNC ENSG00000204946 tier1 - - 49 0 0.00 45 4 8.16