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 A1CF 0 genome.wustl.edu 37 10 52575792 52575792 + Missense_Mutation SNP G G A TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 10 52575792 52575792 G A SNP A1CF ENST00000282641 human ensembl 74_37 -1 known missense c.1115 p.A372V 1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors A1CF HGNC ENSG00000148584 tier1 - - 93 0 0.00 55 16 22.54 ADARB2 0 genome.wustl.edu 37 10 1229245 1229245 + Missense_Mutation SNP G G A TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 10 1229245 1229245 G A SNP ADARB2 ENST00000381312 human ensembl 74_37 -1 known missense c.2108 p.A703V 0.995 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADARB2 HGNC ENSG00000185736 tier1 - - 42 0 0.00 14 21 60.00 APLNR 0 genome.wustl.edu 37 11 57004341 57004341 + Silent SNP G G A TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 11 57004341 57004341 G A SNP APLNR ENST00000257254 human ensembl 74_37 -1 known silent c.138 p.N46 0.740 pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors APLNR HGNC ENSG00000134817 tier1 rs138964036 - 75 0 0.00 84 8 8.70 ARAP3 0 genome.wustl.edu 37 5 141038980 141038980 + Missense_Mutation SNP C C T TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 5 141038980 141038980 C T SNP ARAP3 ENST00000239440 human ensembl 74_37 -1 known missense c.3331 p.V1111M 1.000 NULL pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP3 HGNC ENSG00000120318 tier1 - - 79 0 0.00 67 22 24.72 ARHGEF28 0 genome.wustl.edu 37 5 73091157 73091157 + Missense_Mutation SNP G G A TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 5 73091157 73091157 G A SNP ARHGEF28 ENST00000545377 human ensembl 74_37 +1 known missense c.965 p.R322H 0.000 NULL pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF28 HGNC ENSG00000214944 tier1 - - 119 0 0.00 52 50 49.02 ASPM 0 genome.wustl.edu 37 1 197091307 197091307 + Missense_Mutation SNP A A C TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 1 197091307 197091307 A C SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.3723 p.N1241K 1.000 superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 tier1 - - 93 0 0.00 59 17 22.37 ATP6V0A2 0 genome.wustl.edu 37 12 124235702 124235702 + Missense_Mutation SNP C C T TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 12 124235702 124235702 C T SNP ATP6V0A2 ENST00000330342 human ensembl 74_37 +1 known missense c.1981 p.P661S 0.990 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A2 HGNC ENSG00000185344 tier1 - - 98 0 0.00 62 26 29.55 ATP8A2 0 genome.wustl.edu 37 13 26411382 26411382 + Missense_Mutation SNP C C T TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 13 26411382 26411382 C T SNP ATP8A2 ENST00000381655 human ensembl 74_37 +1 known missense c.2836 p.L946F 1.000 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A2 HGNC ENSG00000132932 tier1 - - 79 0 0.00 64 25 28.09 BCLAF1 0 genome.wustl.edu 37 6 136593131 136593131 + Splice_Site SNP A A C TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 6 136593131 136593131 A C SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known splice_site c.2043+2 e6+2 1.000 - - - no_errors BCLAF1 HGNC ENSG00000029363 61 0 0.00 58 4 6.45 BIRC6 0 genome.wustl.edu 37 2 32773057 32773057 + Missense_Mutation SNP G G C TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 2 32773057 32773057 G C SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.12951 p.E4317D 0.998 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 tier1 - - 26 0 0.00 30 8 21.05 BMP2K 0 genome.wustl.edu 37 4 79792083 79792085 + In_Frame_Del DEL CAG CAG - TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 4 79792083 79792085 CAG - DEL BMP2K ENST00000335016 human ensembl 74_37 +1 known in_frame_del c.1378_1380 p.Q463in_frame_del 0.991:1.000:1.000 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 BMP2K HGNC ENSG00000138756 tier1 48 0 0.00 34 5 12.82 BNC2 0 genome.wustl.edu 37 9 16436325 16436325 + Missense_Mutation SNP G G C TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 9 16436325 16436325 G C SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known missense c.1867 p.P623A 0.989 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 tier1 - - 91 0 0.00 58 21 26.58 C1orf106 0 genome.wustl.edu 37 1 200876966 200876966 + Silent SNP C C T TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 1 200876966 200876966 C T SNP C1orf106 ENST00000367342 human ensembl 74_37 +1 known silent c.780 p.L260 1.000 NULL pfam_DUF3338 - no_errors C1orf106 HGNC ENSG00000163362 tier1 - - 55 0 0.00 55 28 33.73 C6orf223 0 genome.wustl.edu 37 6 43970504 43970506 + In_Frame_Del DEL GCG GCG - TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 GCG GCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 6 43970504 43970506 GCG - DEL C6orf223 ENST00000336600 human ensembl 74_37 +1 known in_frame_del c.370_372 p.A127in_frame_del 0.161:0.158:0.154 NULL NULL - no_errors C6orf223 HGNC ENSG00000181577 tier1 10 0 0.00 13 3 18.75 CCNL2 0 genome.wustl.edu 37 1 1328835 1328835 + Missense_Mutation SNP G G C TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 1 1328835 1328835 G C SNP CCNL2 ENST00000400809 human ensembl 74_37 -1 known missense c.600 p.I200M 1.000 superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L - no_errors CCNL2 HGNC ENSG00000221978 tier1 - - 141 0 0.00 87 7 7.45 CD44 0 genome.wustl.edu 37 11 35201924 35201924 + Nonsense_Mutation SNP C C T TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 11 35201924 35201924 C T SNP CD44 ENST00000428726 human ensembl 74_37 +1 known nonsense c.337 p.Q113* 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_CD44_antigen,prints_Link - no_errors CD44 HGNC ENSG00000026508 tier1 - - 66 0 0.00 56 37 39.78 CDK14 0 genome.wustl.edu 37 7 90741976 90741976 + Missense_Mutation SNP G G A TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 7 90741976 90741976 G A SNP CDK14 ENST00000380050 human ensembl 74_37 +1 known missense c.1274 p.R425Q 1.000 superfamily_Kinase-like_dom 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 CDK14 HGNC ENSG00000058091 tier1 - - 45 0 0.00 64 8 11.11 COL1A2 0 genome.wustl.edu 37 7 94028389 94028389 + Missense_Mutation SNP G G T TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 7 94028389 94028389 G T SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.125 p.G42V 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 tier1 - - 75 0 0.00 70 12 14.63 CORO2A 0 genome.wustl.edu 37 9 100890976 100890976 + Silent SNP G G A TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 9 100890976 100890976 G A SNP CORO2A ENST00000343933 human ensembl 74_37 -1 known silent c.993 p.D331 0.965 pfam_DUF1900 pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO2A HGNC ENSG00000106789 tier1 - - 34 0 0.00 32 9 21.95 CYFIP1 0 genome.wustl.edu 37 15 22954340 22954340 + Missense_Mutation SNP G G A TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 15 22954340 22954340 G A SNP CYFIP1 ENST00000313077 human ensembl 74_37 +1 known missense c.1490 p.R497Q 0.997 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 tier1 - - 43 0 0.00 17 9 34.62 CYP27A1 0 genome.wustl.edu 37 2 219674317 219674317 + Missense_Mutation SNP G G C TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 2 219674317 219674317 G C SNP CYP27A1 ENST00000258415 human ensembl 74_37 +1 known missense c.273 p.K91N 0.997 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP27A1 HGNC ENSG00000135929 tier1 - - 83 0 0.00 81 23 22.12 DCLRE1A 0 genome.wustl.edu 37 10 115609750 115609750 + Missense_Mutation SNP C C G TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 10 115609750 115609750 C G SNP DCLRE1A ENST00000361384 human ensembl 74_37 -1 known missense c.1114 p.D372H 0.000 NULL pfam_DRMBL - no_errors DCLRE1A HGNC ENSG00000198924 tier1 - - 105 0 0.00 98 31 24.03 DDX43 0 genome.wustl.edu 37 6 74123487 74123487 + Missense_Mutation SNP T T C TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 6 74123487 74123487 T C SNP DDX43 ENST00000370336 human ensembl 74_37 +1 known missense c.1475 p.V492A 0.992 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,superfamily_P-loop_NTPase,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX43 HGNC ENSG00000080007 tier1 - - 89 0 0.00 60 19 24.05 DET1 0 genome.wustl.edu 37 15 89074875 89074875 + Missense_Mutation SNP C C T TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 15 89074875 89074875 C T SNP DET1 ENST00000444300 human ensembl 74_37 -1 known missense c.95 p.R32H 1.000 NULL pfam_De-etiolated_protein_1_Det1 - no_errors DET1 HGNC ENSG00000140543 tier1 rs201071368 - 89 0 0.00 96 6 5.83 DLGAP1-AS1 0 genome.wustl.edu 37 18 3597090 3597090 + RNA DEL T T - TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 18 3597090 3597090 T - DEL DLGAP1-AS1 ENST00000317114 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors DLGAP1-AS1 HGNC ENSG00000177337 tier1 32 0 0.00 26 4 13.33 DNAH3 0 genome.wustl.edu 37 16 20970574 20970574 + Missense_Mutation SNP C C T TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 16 20970574 20970574 C T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.10753 p.A3585T 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 tier1 - - 99 0 0.00 123 17 12.06 DNAH9 0 genome.wustl.edu 37 17 11622754 11622754 + Missense_Mutation SNP G G A TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 17 11622754 11622754 G A SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.5656 p.A1886T 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 tier1 - - 45 0 0.00 17 10 37.04 ESRP1 0 genome.wustl.edu 37 8 95653617 95653617 + Missense_Mutation SNP G G C TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 8 95653617 95653617 G C SNP ESRP1 ENST00000433389 human ensembl 74_37 +1 known missense c.71 p.G24A 1.000 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 tier1 - - 46 0 0.00 76 20 20.83 FLG 0 genome.wustl.edu 37 1 152276743 152276743 + Missense_Mutation SNP C C A TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 1 152276743 152276743 C A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.10619 p.S3540I 0.009 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 285 0 0.00 187 40 17.62 FRMPD2 0 genome.wustl.edu 37 10 49400793 49400793 + Missense_Mutation SNP C C T TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 10 49400793 49400793 C T SNP FRMPD2 ENST00000374201 human ensembl 74_37 -1 known missense c.2099 p.S700N 0.000 NULL pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 tier1 - - 38 0 0.00 41 6 12.77 GABRB2 0 genome.wustl.edu 37 5 160721399 160721399 + Missense_Mutation SNP C C G TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 5 160721399 160721399 C G SNP GABRB2 ENST00000274547 human ensembl 74_37 -1 known missense c.1228 p.E410Q 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel - no_errors GABRB2 HGNC ENSG00000145864 tier1 - - 84 0 0.00 59 17 22.37 GRID2 0 genome.wustl.edu 37 4 94138008 94138008 + Silent SNP T T C TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 4 94138008 94138008 T C SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known silent c.909 p.H303 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 tier1 - - 135 0 0.00 68 29 29.90 HELZ2 0 genome.wustl.edu 37 20 62203506 62203506 + Missense_Mutation SNP T T C TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 20 62203506 62203506 T C SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known missense c.233 p.H78R 0.247 NULL superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 tier1 - - 14 0 0.00 22 7 24.14 HLA-DQB2 0 genome.wustl.edu 37 6 32725596 32725596 + Silent SNP C C G TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 6 32725596 32725596 C G SNP HLA-DQB2 ENST00000435145 human ensembl 74_37 -1 known silent c.711 p.L237 0.798 NULL pfam_MHC_II_b_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DQB2 HGNC ENSG00000232629 tier1 rs34988824 - 18 0 0.00 16 6 27.27 INTS1 0 genome.wustl.edu 37 7 1527075 1527075 + Frame_Shift_Del DEL G G - TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 7 1527075 1527075 G - DEL INTS1 ENST00000389470 human ensembl 74_37 -1 known frame_shift_del c.2956 p.R986fs 1.000 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 tier1 34 0 0.00 29 4 12.12 ISPD 0 genome.wustl.edu 37 7 16298017 16298018 + In_Frame_Ins INS - - AAC TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 7 16298017 16298018 - AAC INS ISPD ENST00000407010 human ensembl 74_37 -1 known in_frame_ins c.1117_1116 p.372in_frame_insV 1.000:1.000 NULL pfam_IspD - no_errors ISPD HGNC ENSG00000214960 tier1 20 0 0.00 26 8 23.53 KATNA1 0 genome.wustl.edu 37 6 149922812 149922812 + Frame_Shift_Del DEL G G - TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 6 149922812 149922812 G - DEL KATNA1 ENST00000335647 human ensembl 74_37 -1 known frame_shift_del c.806 p.T269fs 1.000 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors KATNA1 HGNC ENSG00000186625 tier1 72 0 0.00 68 13 16.05 KCNG1 0 genome.wustl.edu 37 20 49626861 49626861 + Silent SNP C C T TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 20 49626861 49626861 C T SNP KCNG1 ENST00000371571 human ensembl 74_37 -1 known silent c.15 p.P5 0.746 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 39 0 0.00 72 4 5.26 KRT32 0 genome.wustl.edu 37 17 39623213 39623213 + Missense_Mutation SNP G G A TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 17 39623213 39623213 G A SNP KRT32 ENST00000225899 human ensembl 74_37 -1 known missense c.365 p.A122V 0.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT32 HGNC ENSG00000108759 tier1 - - 106 0 0.00 573 53 8.47 KRTAP4-3 0 genome.wustl.edu 37 17 39324333 39324333 + Missense_Mutation SNP T T A TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 17 39324333 39324333 T A SNP KRTAP4-3 ENST00000391356 human ensembl 74_37 -1 known missense c.92 p.Q31L 0.052 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-3 HGNC ENSG00000196156 tier1 rs12953139 - 61 0 0.00 217 33 13.20 LAMA1 0 genome.wustl.edu 37 18 7016616 7016616 + Missense_Mutation SNP C C T TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 18 7016616 7016616 C T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.2863 p.V955M 0.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 rs150606453 - 25 0 0.00 16 7 30.43 LAMP1 0 genome.wustl.edu 37 13 113965128 113965128 + Missense_Mutation SNP C C A TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 13 113965128 113965128 C A SNP LAMP1 ENST00000332556 human ensembl 74_37 +1 known missense c.508 p.L170I 0.002 pfam_Lysosome-assoc_membr_glycop pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop - no_errors LAMP1 HGNC ENSG00000185896 tier1 - - 50 0 0.00 82 6 6.82 LBR 0 genome.wustl.edu 37 1 225609954 225609957 + Frame_Shift_Del DEL TTCC TTCC - TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 TTCC TTCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 1 225609954 225609957 TTCC - DEL LBR ENST00000272163 human ensembl 74_37 -1 known frame_shift_del c.191_188 p.R63fs 1.000:1.000:1.000:1.000 NULL pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor - no_errors LBR HGNC ENSG00000143815 tier1 25 0 0.00 30 5 14.29 LIG4 0 genome.wustl.edu 37 13 108862429 108862429 + Missense_Mutation SNP A A C TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 13 108862429 108862429 A C SNP LIG4 ENST00000356922 human ensembl 74_37 -1 known missense c.1188 p.I396M 0.618 pfam_DNA_ligase_ATP-dep_cent,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC ENSG00000174405 tier1 - - 73 0 0.00 88 24 21.43 LRP1B 0 genome.wustl.edu 37 2 141528473 141528473 + Missense_Mutation SNP T T G TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 2 141528473 141528473 T G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.5603 p.Q1868P 1.000 smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 146 0 0.00 132 24 15.38 LRP1B 0 genome.wustl.edu 37 2 141819648 141819648 + Frame_Shift_Del DEL T T - TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 2 141819648 141819648 T - DEL LRP1B ENST00000389484 human ensembl 74_37 -1 known frame_shift_del c.1208 p.N403fs 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 107 0 0.00 119 18 13.14 LRRC30 0 genome.wustl.edu 37 18 7231695 7231695 + Missense_Mutation SNP G G A TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 18 7231695 7231695 G A SNP LRRC30 ENST00000383467 human ensembl 74_37 +1 known missense c.559 p.E187K 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC30 HGNC ENSG00000206422 tier1 - - 70 0 0.00 31 9 22.50 LRRC57 0 genome.wustl.edu 37 15 42840306 42840309 + Frame_Shift_Del DEL AGTT AGTT - TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 AGTT AGTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 15 42840306 42840309 AGTT - DEL LRRC57 ENST00000323443 human ensembl 74_37 -1 known frame_shift_del c.221_218 p.K73fs 1.000:1.000:1.000:1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC57 HGNC ENSG00000180979 tier1 75 0 0.00 28 9 24.32 MED1 0 genome.wustl.edu 37 17 37566780 37566780 + Missense_Mutation SNP T T A TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 17 37566780 37566780 T A SNP MED1 ENST00000300651 human ensembl 74_37 -1 known missense c.1694 p.N565I 0.993 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 tier1 - - 92 0 0.00 377 28 6.90 MED14 0 genome.wustl.edu 37 X 40588606 40588606 + RNA DEL A A - TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa X 40588606 40588606 A - DEL MED14 ENST00000463072 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MED14 HGNC ENSG00000180182 tier1 13 0 0.00 16 6 27.27 MRC2 0 genome.wustl.edu 37 17 60744155 60744155 + Silent SNP C C G TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 17 60744155 60744155 C G SNP MRC2 ENST00000303375 human ensembl 74_37 +1 known silent c.897 p.G299 0.870 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 tier1 - - 48 0 0.00 42 4 8.70 MRGPRX4 0 genome.wustl.edu 37 11 18195400 18195400 + Silent SNP G G A TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 11 18195400 18195400 G A SNP MRGPRX4 ENST00000314254 human ensembl 74_37 +1 known silent c.597 p.L199 0.006 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX4 HGNC ENSG00000179817 tier1 - - 95 0 0.00 93 17 15.45 MRPL21 0 genome.wustl.edu 37 11 68664113 68664113 + Missense_Mutation SNP G G A TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 11 68664113 68664113 G A SNP MRPL21 ENST00000362034 human ensembl 74_37 -1 known missense c.266 p.T89M 0.000 NULL tigrfam_Ribosomal_L21 - no_errors MRPL21 HGNC ENSG00000197345 tier1 rs150988778 - 111 0 0.00 89 21 19.09 MS4A13 0 genome.wustl.edu 37 11 60292679 60292679 + Splice_Site SNP G G T TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 11 60292679 60292679 G T SNP MS4A13 ENST00000378186 human ensembl 74_37 +1 known splice_site c.187-1 e3-1 0.963 - - - no_errors MS4A13 HGNC ENSG00000204979 tier1 - - 77 0 0.00 51 35 40.70 MS4A14 0 genome.wustl.edu 37 11 60184453 60184453 + Missense_Mutation SNP T T G TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 11 60184453 60184453 T G SNP MS4A14 ENST00000300187 human ensembl 74_37 +1 known missense c.2012 p.L671R 0.000 NULL pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 tier1 - - 51 0 0.00 60 20 25.00 MT-ND5 0 genome.wustl.edu 37 MT 13208 13208 + Missense_Mutation SNP G G C TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa MT 13208 13208 G C SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.872 p.C291S NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 8 0 0.00 0 6 100.00 NBEA 0 genome.wustl.edu 37 13 35644884 35644884 + Missense_Mutation SNP T T G TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 13 35644884 35644884 T G SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.1466 p.I489S 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 tier1 - - 53 0 0.00 77 7 8.33 NELL2 0 genome.wustl.edu 37 12 45059371 45059371 + Missense_Mutation SNP C C T TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 12 45059371 45059371 C T SNP NELL2 ENST00000437801 human ensembl 74_37 -1 known missense c.1490 p.G497E 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC ENSG00000184613 tier1 - - 80 0 0.00 30 37 55.22 OAS2 0 genome.wustl.edu 37 12 113444379 113444379 + Missense_Mutation SNP C C T TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 12 113444379 113444379 C T SNP OAS2 ENST00000342315 human ensembl 74_37 +1 known missense c.1630 p.R544C 0.223 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS2 HGNC ENSG00000111335 tier1 - - 156 0 0.00 147 47 24.23 OR51I2 0 genome.wustl.edu 37 11 5475083 5475083 + Missense_Mutation SNP G G A TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 11 5475083 5475083 G A SNP OR51I2 ENST00000341449 human ensembl 74_37 +1 known missense c.365 p.R122H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51I2 HGNC ENSG00000187918 tier1 - - 159 0 0.00 78 58 42.65 OR5B17 0 genome.wustl.edu 37 11 58126289 58126289 + Missense_Mutation SNP A A G TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 11 58126289 58126289 A G SNP OR5B17 ENST00000357377 human ensembl 74_37 -1 known missense c.254 p.I85T 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5B17 HGNC ENSG00000197786 tier1 - - 53 0 0.00 42 6 12.50 PCDHGB2 0 genome.wustl.edu 37 5 140741332 140741332 + Missense_Mutation SNP G G A TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 5 140741332 140741332 G A SNP PCDHGB2 ENST00000522605 human ensembl 74_37 +1 known missense c.1630 p.A544T 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC ENSG00000253910 tier1 - - 58 0 0.00 44 12 21.43 PCDHGB6 0 genome.wustl.edu 37 5 140789052 140789052 + Missense_Mutation SNP G G A TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 5 140789052 140789052 G A SNP PCDHGB6 ENST00000520790 human ensembl 74_37 +1 known missense c.1283 p.G428D 0.993 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB6 HGNC ENSG00000253305 48 0 0.00 35 4 10.26 PCF11 0 genome.wustl.edu 37 11 82872473 82872476 + Frame_Shift_Del DEL ATTT ATTT - TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 ATTT ATTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 11 82872473 82872476 ATTT - DEL PCF11 ENST00000298281 human ensembl 74_37 +1 known frame_shift_del c.297_300 p.I101fs 1.000:1.000:1.000:1.000 pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors PCF11 HGNC ENSG00000165494 tier1 28 0 0.00 29 8 21.62 PDPR 0 genome.wustl.edu 37 16 70154480 70154480 + Missense_Mutation SNP A A G TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 16 70154480 70154480 A G SNP PDPR ENST00000288050 human ensembl 74_37 +1 known missense c.85 p.T29A 0.000 NULL pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom - no_errors PDPR HGNC ENSG00000090857 29 0 0.00 46 5 9.80 PHF20L1 0 genome.wustl.edu 37 8 133827070 133827070 + Silent SNP A A G TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 8 133827070 133827070 A G SNP PHF20L1 ENST00000395386 human ensembl 74_37 +1 putative silent c.1119 p.E373 0.985 NULL pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Tudor-like_plant - no_errors PHF20L1 HGNC ENSG00000129292 tier1 - - 130 0 0.00 111 37 24.83 PIK3C2G 0 genome.wustl.edu 37 12 18691160 18691160 + Missense_Mutation SNP C C T TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 12 18691160 18691160 C T SNP PIK3C2G ENST00000538779 human ensembl 74_37 +1 known missense c.3394 p.H1132Y 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC ENSG00000139144 tier1 - - 55 0 0.00 30 16 34.78 PITRM1 0 genome.wustl.edu 37 10 3208566 3208566 + Silent SNP C C T TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 10 3208566 3208566 C T SNP PITRM1 ENST00000380989 human ensembl 74_37 -1 known silent c.273 p.Q91 1.000 superfamily_Metalloenz_LuxS/M16 pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 - no_errors PITRM1 HGNC ENSG00000107959 tier1 rs114690446 - 61 0 0.00 47 6 11.32 PITRM1 0 genome.wustl.edu 37 10 3208567 3208567 + Missense_Mutation SNP T T G TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 10 3208567 3208567 T G SNP PITRM1 ENST00000380989 human ensembl 74_37 -1 known missense c.272 p.Q91P 1.000 superfamily_Metalloenz_LuxS/M16 pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 - no_errors PITRM1 HGNC ENSG00000107959 tier1 rs28416720 - 58 0 0.00 47 6 11.32 PLCH1 0 genome.wustl.edu 37 3 155311896 155311896 + Missense_Mutation SNP C C A TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 3 155311896 155311896 C A SNP PLCH1 ENST00000340059 human ensembl 74_37 -1 known missense c.268 p.D90Y 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 tier1 - - 69 0 0.00 29 24 45.28 PMM1 0 genome.wustl.edu 37 22 41980020 41980020 + Silent SNP C C T TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 22 41980020 41980020 C T SNP PMM1 ENST00000216259 human ensembl 74_37 -1 known silent c.417 p.S139 0.618 pfam_PMM,pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB pfam_PMM,pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB - no_errors PMM1 HGNC ENSG00000100417 tier1 - - 100 0 0.00 20 32 61.54 PMS2P3 0 genome.wustl.edu 37 7 75145055 75145055 + RNA SNP G G C TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 7 75145055 75145055 G C SNP PMS2P3 ENST00000394921 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors PMS2P3 HGNC ENSG00000127957 84 0 0.00 95 20 17.39 PTCHD4 0 genome.wustl.edu 37 6 47847118 47847118 + Missense_Mutation SNP C C T TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 6 47847118 47847118 C T SNP PTCHD4 ENST00000339488 human ensembl 74_37 -1 known missense c.1462 p.G488R 0.972 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC ENSG00000244694 tier1 - - 33 0 0.00 33 16 32.65 PTGIS 0 genome.wustl.edu 37 20 48127701 48127701 + Nonsense_Mutation SNP G G A TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 20 48127701 48127701 G A SNP PTGIS ENST00000244043 human ensembl 74_37 -1 known nonsense c.1222 p.R408* 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors PTGIS HGNC ENSG00000124212 tier1 - - 53 0 0.00 38 25 39.68 RAB3GAP2 0 genome.wustl.edu 37 1 220387206 220387206 + Missense_Mutation SNP A A T TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 1 220387206 220387206 A T SNP RAB3GAP2 ENST00000358951 human ensembl 74_37 -1 known missense c.296 p.F99Y 1.000 NULL superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC ENSG00000118873 tier1 - - 93 0 0.00 60 26 30.23 RANBP2 0 genome.wustl.edu 37 2 109384137 109384137 + Missense_Mutation SNP G G T TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 2 109384137 109384137 G T SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.7142 p.C2381F 1.000 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 tier1 - - 469 0 0.00 470 115 19.59 RNF40 0 genome.wustl.edu 37 16 30777564 30777564 + Silent SNP C C T TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 16 30777564 30777564 C T SNP RNF40 ENST00000324685 human ensembl 74_37 +1 known silent c.1074 p.A358 0.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC ENSG00000103549 tier1 - - 118 0 0.00 101 19 15.83 RPTOR 0 genome.wustl.edu 37 17 78866671 78866671 + Splice_Site SNP T T G TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 17 78866671 78866671 T G SNP RPTOR ENST00000306801 human ensembl 74_37 +1 known splice_site c.2242+2 e19+2 1.000 - - - no_errors RPTOR HGNC ENSG00000141564 tier1 - - 109 0 0.00 120 41 25.47 RRBP1 0 genome.wustl.edu 37 20 17639350 17639351 + Frame_Shift_Del DEL CT CT - TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 20 17639350 17639351 CT - DEL RRBP1 ENST00000246043 human ensembl 74_37 -1 known frame_shift_del c.1803_1802 p.E601fs 0.805:0.808 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 tier1 80 0 0.00 53 37 41.11 SIGLEC1 0 genome.wustl.edu 37 20 3687153 3687153 + Missense_Mutation SNP G G A TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 20 3687153 3687153 G A SNP SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known missense c.250 p.R84C 0.130 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC1 HGNC ENSG00000088827 tier1 rs140311277 - 53 0 0.00 45 12 21.05 SLC25A15 0 genome.wustl.edu 37 13 41379284 41379284 + Silent SNP C C T TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 13 41379284 41379284 C T SNP SLC25A15 ENST00000338625 human ensembl 74_37 +1 known silent c.345 p.F115 0.005 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A15 HGNC ENSG00000102743 tier1 rs35434090 - 72 0 0.00 75 16 17.58 SLC36A3 0 genome.wustl.edu 37 5 150656989 150656989 + Missense_Mutation SNP G G A TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 5 150656989 150656989 G A SNP SLC36A3 ENST00000377713 human ensembl 74_37 -1 known missense c.1501 p.H501Y 0.001 NULL pfam_AA_transpt_TM - no_errors SLC36A3 HGNC ENSG00000186334 tier1 - - 140 0 0.00 49 54 51.92 SLITRK5 0 genome.wustl.edu 37 13 88328046 88328046 + Missense_Mutation SNP C C A TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 13 88328046 88328046 C A SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.403 p.H135N 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 tier1 - - 123 0 0.00 114 20 14.93 TBC1D32 0 genome.wustl.edu 37 6 121481227 121481227 + Missense_Mutation SNP G G A TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 6 121481227 121481227 G A SNP TBC1D32 ENST00000275159 human ensembl 74_37 -1 putative missense c.2825 p.P942L 1.000 NULL superfamily_Rab-GTPase-TBC_dom - no_errors TBC1D32 HGNC ENSG00000146350 tier1 - - 97 0 0.00 104 27 20.61 TBL1Y 0 genome.wustl.edu 37 Y 6955427 6955427 + Nonsense_Mutation SNP T T A TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa Y 6955427 6955427 T A SNP TBL1Y ENST00000346432 human ensembl 74_37 +1 known nonsense c.1400 p.L467* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1Y HGNC ENSG00000092377 tier1 - - 54 0 0.00 10 21 65.62 TMC1 0 genome.wustl.edu 37 9 75387347 75387347 + Missense_Mutation SNP G G A TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 9 75387347 75387347 G A SNP TMC1 ENST00000297784 human ensembl 74_37 +1 known missense c.760 p.V254I 0.944 NULL pfam_TMC - no_errors TMC1 HGNC ENSG00000165091 tier1 rs111033497 - 190 0 0.00 141 44 23.78 TMEM196 0 genome.wustl.edu 37 7 19765311 19765311 + Missense_Mutation SNP C C G TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 7 19765311 19765311 C G SNP TMEM196 ENST00000405764 human ensembl 74_37 -1 known missense c.285 p.K95N 1.000 NULL NULL - no_errors TMEM196 HGNC ENSG00000173452 tier1 - - 73 0 0.00 54 30 35.29 TMEM239 0 genome.wustl.edu 37 20 2796027 2796027 + Missense_Mutation SNP C C A TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 20 2796027 2796027 C A SNP TMEM239 ENST00000554164 human ensembl 74_37 +1 known missense c.197 p.S66Y 0.047 NULL NULL - no_errors TMEM239 HGNC ENSG00000198326 tier1 - - 183 0 0.00 222 25 10.08 TP53 0 genome.wustl.edu 37 17 7577124 7577124 + Missense_Mutation SNP C C T TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 17 7577124 7577124 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.814 p.V272M 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 16 0 0.00 3 8 72.73 TRDN 0 genome.wustl.edu 37 6 123892199 123892199 + Missense_Mutation SNP C C G TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 6 123892199 123892199 C G SNP TRDN ENST00000398178 human ensembl 74_37 -1 known missense c.101 p.R34T 1.000 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 tier1 - - 80 0 0.00 55 14 20.29 TRIOBP 0 genome.wustl.edu 37 22 38122364 38122364 + Silent SNP G G A TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 22 38122364 38122364 G A SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known silent c.3801 p.R1267 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 tier1 - - 16 0 0.00 4 4 50.00 UBE2R2 0 genome.wustl.edu 37 9 33900191 33900191 + Missense_Mutation SNP C C T TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 9 33900191 33900191 C T SNP UBE2R2 ENST00000263228 human ensembl 74_37 +1 known missense c.284 p.S95L 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2R2 HGNC ENSG00000107341 tier1 - - 81 0 0.00 75 21 21.88 UBR4 0 genome.wustl.edu 37 1 19412735 19412735 + Missense_Mutation SNP C C T TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 1 19412735 19412735 C T SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.14717 p.S4906N 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 tier1 - - 20 0 0.00 6 4 40.00 UCMA 0 genome.wustl.edu 37 10 13275764 13275764 + Missense_Mutation SNP A A C TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 10 13275764 13275764 A C SNP UCMA ENST00000378681 human ensembl 74_37 -1 known missense c.95 p.M32R 0.000 NULL NULL - no_errors UCMA HGNC ENSG00000165623 tier1 - - 67 0 0.00 56 18 24.32 UGT2A2 0 genome.wustl.edu 37 4 70460389 70460389 + Frame_Shift_Del DEL G G - TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 4 70460389 70460389 G - DEL UGT2A2 ENST00000457664 human ensembl 74_37 -1 known frame_shift_del c.1137 p.T380fs 1.000 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A2 HGNC ENSG00000271271 tier1 54 0 0.00 8 18 69.23 VAV3 0 genome.wustl.edu 37 1 108138953 108138953 + Missense_Mutation SNP T T A TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 1 108138953 108138953 T A SNP VAV3 ENST00000370056 human ensembl 74_37 -1 known missense c.2231 p.E744V 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain,prints_SM22_calponin - no_errors VAV3 HGNC ENSG00000134215 tier1 - - 85 0 0.00 68 10 12.82 YES1 0 genome.wustl.edu 37 18 736939 736939 + Missense_Mutation SNP A A C TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 18 736939 736939 A C SNP YES1 ENST00000314574 human ensembl 74_37 -1 known missense c.1160 p.I387S 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,prints_Ser-Thr/Tyr_kinase_cat_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 - - 41 0 0.00 20 6 23.08 ZFP64 0 genome.wustl.edu 37 20 50701410 50701410 + Missense_Mutation SNP C C T TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 20 50701410 50701410 C T SNP ZFP64 ENST00000361387 human ensembl 74_37 -1 known missense c.1624 p.V542I 0.055 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 tier1 - - 48 0 0.00 48 56 53.85 ZNF177 0 genome.wustl.edu 37 19 9491772 9491772 + Silent SNP T T C TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 19 9491772 9491772 T C SNP ZNF177 ENST00000434737 human ensembl 74_37 +1 known silent c.765 p.G255 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF177 HGNC ENSG00000188629 tier1 - - 54 0 0.00 44 13 22.81 ZNF300P1 0 genome.wustl.edu 37 5 150311179 150311179 + RNA SNP G G A TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 5 150311179 150311179 G A SNP ZNF300P1 ENST00000520773 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors ZNF300P1 HGNC ENSG00000197083 tier1 - - 44 0 0.00 27 9 25.00 ZNF532 0 genome.wustl.edu 37 18 56585989 56585989 + Nonsense_Mutation SNP C C G TCGA-VQ-AA6B-01A-11D-A410-08 TCGA-VQ-AA6B-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 009e46bd-c623-4ba3-9165-062b9ea633af 843fc318-8b1c-4b51-a56d-6567a8c003aa 18 56585989 56585989 C G SNP ZNF532 ENST00000336078 human ensembl 74_37 +1 known nonsense c.470 p.S157* 0.062 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ENSG00000074657 tier1 - - 103 0 0.00 58 23 28.40