Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ADRBK1 0 genome.wustl.edu 37 11 67050279 67050279 + Missense_Mutation SNP C C T TCGA-E9-A1RB-01A-11D-A17G-09 TCGA-E9-A1RB-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce0333c-deca-4199-a06c-ede43c5575fc a4297226-b312-4048-b61f-58bfbc792aef 11 67050279 67050279 C T SNP ADRBK1 ENST00000308595 human ensembl 69_37n +1 known missense c.1217 p.T406M 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors ADRBK1 HGNC ENSG00000173020 28 0 0.00 29 5 14.71 - - - ANK3 0 genome.wustl.edu 37 10 61959967 61959967 + Missense_Mutation SNP G G A TCGA-E9-A1RB-01A-11D-A17G-09 TCGA-E9-A1RB-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce0333c-deca-4199-a06c-ede43c5575fc a4297226-b312-4048-b61f-58bfbc792aef 10 61959967 61959967 G A SNP ANK3 ENST00000280772 human ensembl 69_37n -1 known missense c.1411 p.H471Y 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 54 0 0.00 50 30 37.50 - - - BAZ2B 0 genome.wustl.edu 37 2 160304785 160304785 + Missense_Mutation SNP G G A TCGA-E9-A1RB-01A-11D-A17G-09 TCGA-E9-A1RB-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce0333c-deca-4199-a06c-ede43c5575fc a4297226-b312-4048-b61f-58bfbc792aef 2 160304785 160304785 G A SNP BAZ2B ENST00000392783 human ensembl 69_37n -1 known missense c.470 p.S157L 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 94 0 0.00 53 17 24.29 - - - C1orf222 0 genome.wustl.edu 37 1 1905610 1905610 + Missense_Mutation SNP C C A TCGA-E9-A1RB-01A-11D-A17G-09 TCGA-E9-A1RB-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce0333c-deca-4199-a06c-ede43c5575fc a4297226-b312-4048-b61f-58bfbc792aef 1 1905610 1905610 C A SNP C1orf222 ENST00000270720 human ensembl 69_37n -1 known missense c.528 p.Q176H 0.439 NULL NULL - no_errors C1orf222 HGNC ENSG00000142609 19 0 0.00 24 5 17.24 - - - C3 0 genome.wustl.edu 37 19 6694484 6694484 + Missense_Mutation SNP C C G TCGA-E9-A1RB-01A-11D-A17G-09 TCGA-E9-A1RB-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce0333c-deca-4199-a06c-ede43c5575fc a4297226-b312-4048-b61f-58bfbc792aef 19 6694484 6694484 C G SNP C3 ENST00000245907 human ensembl 69_37n -1 known missense c.3112 p.G1038R 0.899 superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C3 HGNC ENSG00000125730 49 0 0.00 40 17 29.82 - - - CFH 0 genome.wustl.edu 37 1 196711113 196711113 + Missense_Mutation SNP A A G TCGA-E9-A1RB-01A-11D-A17G-09 TCGA-E9-A1RB-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce0333c-deca-4199-a06c-ede43c5575fc a4297226-b312-4048-b61f-58bfbc792aef 1 196711113 196711113 A G SNP CFH ENST00000367429 human ensembl 69_37n +1 known missense c.3065 p.Y1022C 0.056 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 58 0 0.00 76 26 25.49 - - - CNDP2 0 genome.wustl.edu 37 18 72173106 72173106 + Missense_Mutation SNP C C T TCGA-E9-A1RB-01A-11D-A17G-09 TCGA-E9-A1RB-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce0333c-deca-4199-a06c-ede43c5575fc a4297226-b312-4048-b61f-58bfbc792aef 18 72173106 72173106 C T SNP CNDP2 ENST00000324262 human ensembl 69_37n +1 known missense c.227 p.P76L 0.994 pirsf_GSH_degradosome_DUG1 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1 - no_errors CNDP2 HGNC ENSG00000133313 33 0 0.00 21 20 48.78 - - - FAM115A 0 genome.wustl.edu 37 7 143556202 143556202 + Silent SNP C C T TCGA-E9-A1RB-01A-11D-A17G-09 TCGA-E9-A1RB-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce0333c-deca-4199-a06c-ede43c5575fc a4297226-b312-4048-b61f-58bfbc792aef 7 143556202 143556202 C T SNP FAM115A ENST00000479870 human ensembl 69_37n -1 known silent c.2220 p.E740 1.000 NULL NULL - no_errors FAM115A HGNC ENSG00000198420 9 0 0.00 5 5 50.00 - - - GRIP2 0 genome.wustl.edu 37 3 14547146 14547146 + RNA SNP C C A TCGA-E9-A1RB-01A-11D-A17G-09 TCGA-E9-A1RB-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce0333c-deca-4199-a06c-ede43c5575fc a4297226-b312-4048-b61f-58bfbc792aef 3 14547146 14547146 C A SNP GRIP2 ENST00000273083 human ensembl 69_37n -1 known rna NULL NULL 0.974 - - - no_errors GRIP2 HGNC ENSG00000144596 45 0 0.00 20 10 33.33 - - - HIP1 0 genome.wustl.edu 37 7 75182834 75182834 + Missense_Mutation SNP G G T TCGA-E9-A1RB-01A-11D-A17G-09 TCGA-E9-A1RB-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce0333c-deca-4199-a06c-ede43c5575fc a4297226-b312-4048-b61f-58bfbc792aef 7 75182834 75182834 G T SNP HIP1 ENST00000336926 human ensembl 69_37n -1 known missense c.2213 p.S738Y 0.875 NULL pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ - no_errors HIP1 HGNC ENSG00000127946 31 0 0.00 35 17 32.69 - - - IGKV1D-42 0 genome.wustl.edu 37 2 90229285 90229285 + Silent SNP A A C TCGA-E9-A1RB-01A-11D-A17G-09 TCGA-E9-A1RB-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce0333c-deca-4199-a06c-ede43c5575fc a4297226-b312-4048-b61f-58bfbc792aef 2 90229285 90229285 A C SNP IGKV1D-42 ENST00000390278 human ensembl 69_37n +1 known silent c.105 p.A35 0.116 pfam_Ig_V-set,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV1D-42 HGNC ENSG00000211633 94 0 0.00 79 25 24.04 - - - KIR3DL1 0 genome.wustl.edu 37 19 55341436 55341436 + Splice_Site SNP G G A TCGA-E9-A1RB-01A-11D-A17G-09 TCGA-E9-A1RB-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce0333c-deca-4199-a06c-ede43c5575fc a4297226-b312-4048-b61f-58bfbc792aef 19 55341436 55341436 G A SNP KIR3DL1 ENST00000391728 human ensembl 69_37n +1 known splice_site c.1158+1 e8+1 0.102 - - - no_errors KIR3DL1 HGNC ENSG00000167633 99 0 0.00 32 77 70.64 - - - KRTAP19-7 0 genome.wustl.edu 37 21 31933504 31933505 + Frame_Shift_Del DEL CA CA - TCGA-E9-A1RB-01A-11D-A17G-09 TCGA-E9-A1RB-10A-01D-A159-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce0333c-deca-4199-a06c-ede43c5575fc a4297226-b312-4048-b61f-58bfbc792aef 21 31933504 31933505 CA - DEL KRTAP19-7 ENST00000334849 human ensembl 69_37n -1 known frame_shift_del c.105_104 p.L35fs 0.984:0.952 pfam_KRTAP pfam_KRTAP - no_errors KRTAP19-7 HGNC ENSG00000244362 126 0 0.00 81 14 14.58 - - - LCK 0 genome.wustl.edu 37 1 32745462 32745462 + Missense_Mutation SNP C C A TCGA-E9-A1RB-01A-11D-A17G-09 TCGA-E9-A1RB-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce0333c-deca-4199-a06c-ede43c5575fc a4297226-b312-4048-b61f-58bfbc792aef 1 32745462 32745462 C A SNP LCK ENST00000333070 human ensembl 69_37n +1 known missense c.1152 p.F384L 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,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_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors LCK HGNC ENSG00000182866 55 0 0.00 35 73 67.59 - - - LOXL3 0 genome.wustl.edu 37 2 74761688 74761688 + Missense_Mutation SNP C C T TCGA-E9-A1RB-01A-11D-A17G-09 TCGA-E9-A1RB-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce0333c-deca-4199-a06c-ede43c5575fc a4297226-b312-4048-b61f-58bfbc792aef 2 74761688 74761688 C T SNP LOXL3 ENST00000264094 human ensembl 69_37n -1 known missense c.1793 p.R598H 1.000 pfam_Lysyl_oxidase,prints_Lysyl_oxidase pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Lysyl_oxidase,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors LOXL3 HGNC ENSG00000115318 49 0 0.00 48 15 23.81 - - - LPO 0 genome.wustl.edu 37 17 56344804 56344804 + Silent SNP G G A TCGA-E9-A1RB-01A-11D-A17G-09 TCGA-E9-A1RB-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce0333c-deca-4199-a06c-ede43c5575fc a4297226-b312-4048-b61f-58bfbc792aef 17 56344804 56344804 G A SNP LPO ENST00000262290 human ensembl 69_37n +1 known silent c.1788 p.K596 0.902 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors LPO HGNC ENSG00000167419 40 0 0.00 26 13 33.33 - - - NAT10 0 genome.wustl.edu 37 11 34160963 34160963 + Silent SNP C C T TCGA-E9-A1RB-01A-11D-A17G-09 TCGA-E9-A1RB-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce0333c-deca-4199-a06c-ede43c5575fc a4297226-b312-4048-b61f-58bfbc792aef 11 34160963 34160963 C T SNP NAT10 ENST00000257829 human ensembl 69_37n +1 known silent c.2340 p.S780 1.000 NULL pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT10 HGNC ENSG00000135372 64 0 0.00 45 33 41.77 - - - OR2T2 0 genome.wustl.edu 37 1 248616764 248616764 + Silent SNP C C T TCGA-E9-A1RB-01A-11D-A17G-09 TCGA-E9-A1RB-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce0333c-deca-4199-a06c-ede43c5575fc a4297226-b312-4048-b61f-58bfbc792aef 1 248616764 248616764 C T SNP OR2T2 ENST00000342927 human ensembl 69_37n +1 known silent c.666 p.I222 0.001 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2T2 HGNC ENSG00000196240 51 0 0.00 39 19 32.76 - - - OR4E2 0 genome.wustl.edu 37 14 22133650 22133650 + Silent SNP G G T TCGA-E9-A1RB-01A-11D-A17G-09 TCGA-E9-A1RB-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce0333c-deca-4199-a06c-ede43c5575fc a4297226-b312-4048-b61f-58bfbc792aef 14 22133650 22133650 G T SNP OR4E2 ENST00000408935 human ensembl 69_37n +1 known silent c.354 p.V118 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4E2 HGNC ENSG00000221977 61 0 0.00 34 61 64.21 - - - PRSS8 0 genome.wustl.edu 37 16 31144597 31144597 + Silent SNP G G T TCGA-E9-A1RB-01A-11D-A17G-09 TCGA-E9-A1RB-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce0333c-deca-4199-a06c-ede43c5575fc a4297226-b312-4048-b61f-58bfbc792aef 16 31144597 31144597 G T SNP PRSS8 ENST00000317508 human ensembl 69_37n -1 known silent c.216 p.G72 0.312 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 - no_errors PRSS8 HGNC ENSG00000052344 38 0 0.00 70 11 13.58 - - - PTPRT 0 genome.wustl.edu 37 20 41420080 41420080 + Missense_Mutation SNP C C T TCGA-E9-A1RB-01A-11D-A17G-09 TCGA-E9-A1RB-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce0333c-deca-4199-a06c-ede43c5575fc a4297226-b312-4048-b61f-58bfbc792aef 20 41420080 41420080 C T SNP PTPRT ENST00000373198 human ensembl 69_37n -1 known missense c.241 p.G81R 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 38 0 0.00 42 19 31.15 - - - RNF113B 0 genome.wustl.edu 37 13 98828595 98828595 + Missense_Mutation SNP C C A TCGA-E9-A1RB-01A-11D-A17G-09 TCGA-E9-A1RB-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce0333c-deca-4199-a06c-ede43c5575fc a4297226-b312-4048-b61f-58bfbc792aef 13 98828595 98828595 C A SNP RNF113B ENST00000267291 human ensembl 69_37n -1 known missense c.896 p.G299V 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF113B HGNC ENSG00000139797 73 0 0.00 24 48 66.67 - - - SEMA6A 0 genome.wustl.edu 37 5 115783352 115783352 + Missense_Mutation SNP C C G TCGA-E9-A1RB-01A-11D-A17G-09 TCGA-E9-A1RB-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce0333c-deca-4199-a06c-ede43c5575fc a4297226-b312-4048-b61f-58bfbc792aef 5 115783352 115783352 C G SNP SEMA6A ENST00000257414 human ensembl 69_37n -1 known missense c.2101 p.V701L 0.007 NULL pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6A HGNC ENSG00000092421 35 0 0.00 21 14 40.00 - - - SMARCA1 0 genome.wustl.edu 37 X 128649967 128649967 + Missense_Mutation SNP G G A TCGA-E9-A1RB-01A-11D-A17G-09 TCGA-E9-A1RB-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce0333c-deca-4199-a06c-ede43c5575fc a4297226-b312-4048-b61f-58bfbc792aef X 128649967 128649967 G A SNP SMARCA1 ENST00000371122 human ensembl 69_37n -1 known missense c.433 p.R145C 1.000 NULL pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA1 HGNC ENSG00000102038 101 0 0.00 74 14 15.91 - - - TMEM200C 0 genome.wustl.edu 37 18 5891633 5891633 + Missense_Mutation SNP A A G TCGA-E9-A1RB-01A-11D-A17G-09 TCGA-E9-A1RB-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce0333c-deca-4199-a06c-ede43c5575fc a4297226-b312-4048-b61f-58bfbc792aef 18 5891633 5891633 A G SNP TMEM200C ENST00000383490 human ensembl 69_37n -1 known missense c.430 p.S144P 0.701 pfam_DUF2371_TMEM200 pfam_DUF2371_TMEM200 - no_errors TMEM200C HGNC ENSG00000206432 49 0 0.00 30 9 23.08 - - - TP53 0 genome.wustl.edu 37 17 7577082 7577082 + Missense_Mutation SNP C C G TCGA-E9-A1RB-01A-11D-A17G-09 TCGA-E9-A1RB-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce0333c-deca-4199-a06c-ede43c5575fc a4297226-b312-4048-b61f-58bfbc792aef 17 7577082 7577082 C G SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.856 p.E286Q 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 80 0 0.00 28 39 58.21 - - - TRIM51HP 0 genome.wustl.edu 37 11 55065574 55065574 + RNA SNP T T A TCGA-E9-A1RB-01A-11D-A17G-09 TCGA-E9-A1RB-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce0333c-deca-4199-a06c-ede43c5575fc a4297226-b312-4048-b61f-58bfbc792aef 11 55065574 55065574 T A SNP TRIM51HP ENST00000526016 human ensembl 69_37n -1 putative rna NULL NULL 0.786 - - - no_errors TRIM51HP HGNC ENSG00000166007 42 0 0.00 9 7 43.75 - - - VWA3A 0 genome.wustl.edu 37 16 22142969 22142969 + Missense_Mutation SNP G G A TCGA-E9-A1RB-01A-11D-A17G-09 TCGA-E9-A1RB-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce0333c-deca-4199-a06c-ede43c5575fc a4297226-b312-4048-b61f-58bfbc792aef 16 22142969 22142969 G A SNP VWA3A ENST00000299840 human ensembl 69_37n +1 known missense c.619 p.G207R 0.814 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region VWA3A HGNC ENSG00000175267 42 0 0.00 71 8 10.13 - - - WDR34 0 genome.wustl.edu 37 9 131397466 131397466 + Silent SNP G G A TCGA-E9-A1RB-01A-11D-A17G-09 TCGA-E9-A1RB-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce0333c-deca-4199-a06c-ede43c5575fc a4297226-b312-4048-b61f-58bfbc792aef 9 131397466 131397466 G A SNP WDR34 ENST00000372715 human ensembl 69_37n -1 known silent c.886 p.L296 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR34 HGNC ENSG00000119333 14 0 0.00 26 7 21.21 - - - WIPF1 0 genome.wustl.edu 37 2 175436606 175436606 + Silent SNP C C T TCGA-E9-A1RB-01A-11D-A17G-09 TCGA-E9-A1RB-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce0333c-deca-4199-a06c-ede43c5575fc a4297226-b312-4048-b61f-58bfbc792aef 2 175436606 175436606 C T SNP WIPF1 ENST00000272746 human ensembl 69_37n -1 known silent c.927 p.P309 0.089 NULL smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF1 HGNC ENSG00000115935 44 0 0.00 24 8 25.00 - - - ZNF281 0 genome.wustl.edu 37 1 200378052 200378052 + Missense_Mutation SNP T T C TCGA-E9-A1RB-01A-11D-A17G-09 TCGA-E9-A1RB-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ce0333c-deca-4199-a06c-ede43c5575fc a4297226-b312-4048-b61f-58bfbc792aef 1 200378052 200378052 T C SNP ZNF281 ENST00000294740 human ensembl 69_37n -1 known missense c.782 p.H261R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF281 HGNC ENSG00000162702 59 0 0.00 68 29 29.90 - - -