Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ABCC9 0 genome.wustl.edu 37 12 21964989 21964989 + Missense_Mutation SNP G G T TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 12 21964989 21964989 G T SNP ABCC9 ENST00000261200 human ensembl 69_37n -1 known missense c.4205 p.S1402Y 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC9 HGNC ENSG00000069431 32 0 0.00 34 4 10.53 - - - ACOT7 0 genome.wustl.edu 37 1 6378566 6378566 + Missense_Mutation SNP C C T TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 1 6378566 6378566 C T SNP ACOT7 ENST00000377855 human ensembl 69_37n -1 known missense c.728 p.G243D 1.000 pfam_Thioestr_supf pfam_Thioestr_supf - no_errors ACOT7 HGNC ENSG00000097021 52 0 0.00 22 4 15.38 - - - ADAM21 0 genome.wustl.edu 37 14 70925057 70925057 + Missense_Mutation SNP C C G TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 14 70925057 70925057 C G SNP ADAM21 ENST00000267499 human ensembl 69_37n +1 known missense c.841 p.Q281E 0.005 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 58 0 0.00 61 9 12.86 - - - ADAM3A 0 genome.wustl.edu 37 8 39362859 39362859 + Splice_Site SNP C C T TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 8 39362859 39362859 C T SNP ADAM3A ENST00000460383 human ensembl 69_37n -1 known splice_site c.NULL NULL 0.736 - - - no_errors ADAM3A HGNC ENSG00000197475 15 0 0.00 19 6 24.00 - - - ANKRD52 0 genome.wustl.edu 37 12 56648057 56648057 + Missense_Mutation SNP C C T TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 12 56648057 56648057 C T SNP ANKRD52 ENST00000267116 human ensembl 69_37n -1 known missense c.700 p.E234K 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD52 HGNC ENSG00000139645 50 0 0.00 23 15 39.47 - - - APBA2 0 genome.wustl.edu 37 15 29346222 29346222 + Silent SNP C C T TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 15 29346222 29346222 C T SNP APBA2 ENST00000558259 human ensembl 69_37n +1 known silent c.135 p.G45 0.005 NULL pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom - no_errors APBA2 HGNC ENSG00000034053 51 0 0.00 14 9 39.13 - - - ATP8B5P 0 genome.wustl.edu 37 9 35450083 35450083 + RNA SNP G G C TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 9 35450083 35450083 G C SNP ATP8B5P ENST00000430846 human ensembl 69_37n +1 known rna NULL NULL 0.470 - - - no_errors ATP8B5P HGNC ENSG00000179766 37 0 0.00 18 15 45.45 - - - AXIN1 0 genome.wustl.edu 37 16 343662 343662 + Missense_Mutation SNP T T C TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 16 343662 343662 T C SNP AXIN1 ENST00000262320 human ensembl 69_37n -1 known missense c.2012 p.E671G 0.999 NULL pfam_DIX,pfam_Regulat_G_prot_signal,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors AXIN1 HGNC ENSG00000103126 59 0 0.00 40 23 36.51 - - - B4GALNT3 0 genome.wustl.edu 37 12 657408 657408 + Silent SNP C C T TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 12 657408 657408 C T SNP B4GALNT3 ENST00000266383 human ensembl 69_37n +1 known silent c.798 p.N266 0.949 pfam_PA14,smart_PA14 pfam_PA14,pfam_Chond_GalNAc,smart_PA14 - no_errors B4GALNT3 HGNC ENSG00000139044 72 0 0.00 28 32 53.33 - - - BACH2 0 genome.wustl.edu 37 6 90717860 90717860 + RNA SNP C C A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 6 90717860 90717860 C A SNP BACH2 ENST00000481150 human ensembl 69_37n -1 known rna NULL NULL 0.588 - - - no_errors BACH2 HGNC ENSG00000112182 21 0 0.00 7 6 46.15 - - - BDKRB1 0 genome.wustl.edu 37 14 96731044 96731044 + Missense_Mutation SNP A A G TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 14 96731044 96731044 A G SNP BDKRB1 ENST00000216629 human ensembl 69_37n +1 known missense c.1025 p.H342R 0.000 NULL pfam_7TM_GPCR_Rhodpsn,prints_BK_rcpt_B1,prints_7TM_GPCR_Rhodpsn,prints_Brdyknn_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors BDKRB1 HGNC ENSG00000100739 50 0 0.00 22 17 43.59 - - - BID 0 genome.wustl.edu 37 22 18222887 18222887 + Frame_Shift_Del DEL G G - TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 22 18222887 18222887 G - DEL BID ENST00000342111 human ensembl 69_37n -1 known frame_shift_del c.279 p.S93fs 0.000 NULL pfam_BID - no_errors BID HGNC ENSG00000015475 32 0 0.00 16 2 10.53 - - - C18orf8 0 genome.wustl.edu 37 18 21109597 21109597 + Splice_Site SNP A A G TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 18 21109597 21109597 A G SNP C18orf8 ENST00000269221 human ensembl 69_37n +1 known splice_site c.1417-2 e16-2 1.000 - - - no_errors C18orf8 HGNC ENSG00000141452 46 0 0 28 5 15.15 - - - C3orf43 0 genome.wustl.edu 37 3 196234917 196234917 + Silent SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 3 196234917 196234917 G A SNP C3orf43 ENST00000397537 human ensembl 69_37n -1 known silent c.486 p.I162 0.028 NULL NULL - no_errors C3orf43 HGNC ENSG00000214097 74 0 0.00 37 20 35.09 - - - CAPN9 0 genome.wustl.edu 37 1 230895283 230895283 + Silent SNP C C T TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 1 230895283 230895283 C T SNP CAPN9 ENST00000271971 human ensembl 69_37n +1 known silent c.309 p.I103 0.667 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN9 HGNC ENSG00000135773 32 0 0.00 31 12 27.91 - - - CASC4 0 genome.wustl.edu 37 15 44615196 44615196 + Missense_Mutation SNP G G T TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 15 44615196 44615196 G T SNP CASC4 ENST00000299957 human ensembl 69_37n +1 known missense c.361 p.A121S 1.000 NULL NULL - no_errors CASC4 HGNC ENSG00000166734 28 0 0.00 14 3 17.65 - - - CCDC115 0 genome.wustl.edu 37 2 131099321 131099321 + Missense_Mutation SNP C C T TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 2 131099321 131099321 C T SNP CCDC115 ENST00000442217 human ensembl 69_37n -1 known missense c.217 p.E73K 0.960 NULL NULL - no_errors CCDC115 HGNC ENSG00000136710 26 0 0.00 6 7 53.85 - - - CCDC88B 0 genome.wustl.edu 37 11 64116864 64116864 + Missense_Mutation SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 11 64116864 64116864 G A SNP CCDC88B ENST00000356786 human ensembl 69_37n +1 known missense c.2678 p.R893H 0.000 NULL pfam_HOOK - no_errors CCDC88B HGNC ENSG00000168071 53 0 0.00 15 10 40.00 - - - CD109 0 genome.wustl.edu 37 6 74407127 74407127 + Missense_Mutation SNP C C T TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 6 74407127 74407127 C T SNP CD109 ENST00000287097 human ensembl 69_37n +1 known missense c.79 p.R27W 0.114 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 44 0 0.00 27 13 32.50 - - - CDH1 0 genome.wustl.edu 37 16 68847225 68847225 + Nonsense_Mutation SNP C C T TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 16 68847225 68847225 C T SNP CDH1 ENST00000261769 human ensembl 69_37n +1 known nonsense c.1147 p.Q383* 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 51 0 0.00 11 14 56.00 - - - CHPF 0 genome.wustl.edu 37 2 220406340 220406340 + Missense_Mutation SNP C C T TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 2 220406340 220406340 C T SNP CHPF ENST00000243776 human ensembl 69_37n -1 known missense c.886 p.E296K 0.986 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CHPF HGNC ENSG00000123989 33 0 0.00 6 4 40.00 - - - CPQ 0 genome.wustl.edu 37 8 97847315 97847315 + Missense_Mutation SNP C C T TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 8 97847315 97847315 C T SNP CPQ ENST00000220763 human ensembl 69_37n +1 known missense c.548 p.T183M 0.070 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors CPQ HGNC ENSG00000104324 58 0 0.00 37 13 26.00 - - - CUBN 0 genome.wustl.edu 37 10 17156097 17156097 + Missense_Mutation SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 10 17156097 17156097 G A SNP CUBN ENST00000377833 human ensembl 69_37n -1 known missense c.812 p.P271L 0.000 pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 28 0 0.00 17 6 26.09 - - - DACH2 0 genome.wustl.edu 37 X 85403985 85403985 + Missense_Mutation SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 X 85403985 85403985 G A SNP DACH2 ENST00000373125 human ensembl 69_37n +1 known missense c.361 p.V121M 1.000 pfam_Transform_Ski,superfamily_DNA-bd_dom_put pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 62 0 0.00 42 11 20.75 - - - DHX15 0 genome.wustl.edu 37 4 24557984 24557984 + Silent SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 4 24557984 24557984 G A SNP DHX15 ENST00000336812 human ensembl 69_37n -1 known silent c.751 p.L251 0.966 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX15 HGNC ENSG00000109606 50 0 0.00 17 10 37.04 - - - DNHD1 0 genome.wustl.edu 37 11 6592334 6592334 + Missense_Mutation SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 11 6592334 6592334 G A SNP DNHD1 ENST00000254579 human ensembl 69_37n +1 known missense c.13592 p.G4531D 0.977 pfam_Dynein_heavy pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 13 0 0.00 17 7 29.17 - - - DSG3 0 genome.wustl.edu 37 18 29055625 29055625 + Missense_Mutation SNP C C T TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 18 29055625 29055625 C T SNP DSG3 ENST00000257189 human ensembl 69_37n +1 known missense c.2402 p.A801V 0.993 pfam_Cadherin_cytoplasmic-dom,prints_Desmoglein pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG3 HGNC ENSG00000134757 51 0 0.00 24 18 42.86 - - - ECM1 0 genome.wustl.edu 37 1 150483102 150483102 + RNA SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 1 150483102 150483102 G A SNP ECM1 ENST00000470432 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors ECM1 HGNC ENSG00000143369 22 0 0.00 18 5 21.74 - - - ERBB2IP 0 genome.wustl.edu 37 5 65288560 65288560 + Missense_Mutation SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 5 65288560 65288560 G A SNP ERBB2IP ENST00000284037 human ensembl 69_37n +1 known missense c.14 p.R5Q 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 52 0 0.00 24 7 22.58 - - - ESPNP 0 genome.wustl.edu 37 1 17017675 17017675 + RNA SNP C C A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 1 17017675 17017675 C A SNP ESPNP ENST00000414828 human ensembl 69_37n -1 putative rna NULL NULL 0.003 - - - no_errors RP1-163M9.6 Clone_based_vega_gene ENSG00000239644 102 1 0.97 52 6 10.34 - - - ETAA1 0 genome.wustl.edu 37 2 67631369 67631369 + Missense_Mutation SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 2 67631369 67631369 G A SNP ETAA1 ENST00000272342 human ensembl 69_37n +1 known missense c.1555 p.E519K 0.889 NULL NULL - no_errors ETAA1 HGNC ENSG00000143971 30 0 0.00 10 13 56.52 - - - EXD2 0 genome.wustl.edu 37 14 69695782 69695782 + Silent SNP C C A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 14 69695782 69695782 C A SNP EXD2 ENST00000312994 human ensembl 69_37n +1 known silent c.583 p.R195 1.000 pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD2 HGNC ENSG00000081177 56 0 0.00 35 5 12.50 - - - EXOC2 0 genome.wustl.edu 37 6 629855 629856 + Frame_Shift_Ins INS - - G TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 6 629855 629856 - G INS EXOC2 ENST00000230449 human ensembl 69_37n -1 known frame_shift_ins c.402_401 p.L135fs 0.001:1.000 NULL pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom - no_errors EXOC2 HGNC ENSG00000112685 58 0 0.00 35 7 16.67 - - - FGF16 0 genome.wustl.edu 37 X 76711932 76711932 + Missense_Mutation SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 X 76711932 76711932 G A SNP FGF16 ENST00000439435 human ensembl 69_37n +1 known missense c.269 p.R90K 1.000 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF,prints_GF_heparin-bd - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FGF16 HGNC ENSG00000196468 35 0 0.00 15 4 21.05 - - - FILIP1 0 genome.wustl.edu 37 6 76072536 76072536 + Missense_Mutation SNP C C A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 6 76072536 76072536 C A SNP FILIP1 ENST00000237172 human ensembl 69_37n -1 known missense c.374 p.R125L 0.272 pfam_Cortactin-binding_p2_N pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 63 0 0.00 50 7 12.28 - - - FOXA1 0 genome.wustl.edu 37 14 38061240 38061240 + Missense_Mutation SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 14 38061240 38061240 G A SNP FOXA1 ENST00000250448 human ensembl 69_37n -1 known missense c.749 p.S250F 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA1 HGNC ENSG00000129514 39 0 0.00 28 16 35.56 - - - FRG1B 0 genome.wustl.edu 37 20 29614296 29614297 + RNA INS - - AGA TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 20 29614296 29614297 - AGA INS FRG1B ENST00000482423 human ensembl 69_37n +1 known rna NULL NULL 0.998:0.997 - - - no_errors FRG1B HGNC ENSG00000149531 33 0 0.00 27 7 20.59 - - - FRYL 0 genome.wustl.edu 37 4 48512870 48512870 + Silent SNP G G C TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 4 48512870 48512870 G C SNP FRYL ENST00000358350 human ensembl 69_37n -1 known silent c.8277 p.V2759 1.000 NULL superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 57 0 0.00 25 7 21.88 - - - GABPA 0 genome.wustl.edu 37 21 27107738 27107738 + RNA SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 21 27107738 27107738 G A SNP GABPA ENST00000487266 human ensembl 69_37n +1 putative rna NULL NULL 1.000 - - - no_errors GABPA HGNC ENSG00000154727 49 0 0.00 37 9 19.57 - - - GOLGA2 0 genome.wustl.edu 37 9 131020796 131020798 + In_Frame_Del DEL CCT CCT - TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 9 131020796 131020798 CCT - DEL GOLGA2 ENST00000421699 human ensembl 69_37n -1 known in_frame_del c.2146_2144 p.E715in_frame_del 0.000:0.000:0.004 NULL superfamily_CofA_tubulin-bd - no_errors GOLGA2 HGNC ENSG00000167110 19 0 0.00 20 5 20.00 - - - GRHL2 0 genome.wustl.edu 37 8 102555524 102555524 + Nonsense_Mutation SNP C C T TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 8 102555524 102555524 C T SNP GRHL2 ENST00000251808 human ensembl 69_37n +1 known nonsense c.76 p.R26* 1.000 NULL pfam_CP2 - no_errors GRHL2 HGNC ENSG00000083307 37 0 0.00 38 15 28.30 - - - HADHA 0 genome.wustl.edu 37 2 26424084 26424084 + Missense_Mutation SNP G G C TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 2 26424084 26424084 G C SNP HADHA ENST00000380649 human ensembl 69_37n -1 known missense c.1326 p.D442E 1.000 pfam_3-OHacyl-CoA_DH_NAD-bd,tigrfam_Fa_ox_alpha_mit pfam_Crotonase_core,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_Fa_ox_alpha_mit - no_errors HADHA HGNC ENSG00000084754 38 0 0.00 19 5 20.83 - - - IFNA10 0 genome.wustl.edu 37 9 21206973 21206973 + Missense_Mutation SNP C C T TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 9 21206973 21206973 C T SNP IFNA10 ENST00000357374 human ensembl 69_37n -1 known missense c.124 p.G42R 0.008 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA10 HGNC ENSG00000186803 102 1 0.97 67 9 11.84 - - - IGHG3 0 genome.wustl.edu 37 14 106236232 106236232 + Missense_Mutation SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 14 106236232 106236232 G A SNP IGHG3 ENST00000390551 human ensembl 69_37n -1 known missense c.572 p.A191V 0.633 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region IGHG3 HGNC ENSG00000211897 70 0 0.00 38 16 29.63 - - - ITGA8 0 genome.wustl.edu 37 10 15697406 15697406 + Splice_Site SNP C C G TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 10 15697406 15697406 C G SNP ITGA8 ENST00000378076 human ensembl 69_37n -1 known splice_site c.949-1 e11-1 1.000 - - - no_errors ITGA8 HGNC ENSG00000077943 21 0 0.00 14 8 36.36 - - - KALRN 0 genome.wustl.edu 37 3 124181439 124181439 + Nonsense_Mutation SNP C C A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 3 124181439 124181439 C A SNP KALRN ENST00000354186 human ensembl 69_37n +1 novel nonsense c.3890 p.S1297* 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KALRN HGNC ENSG00000160145 21 0 0.00 15 6 28.57 - - - KIF26B 0 genome.wustl.edu 37 1 245530510 245530510 + Silent SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 1 245530510 245530510 G A SNP KIF26B ENST00000407071 human ensembl 69_37n +1 known silent c.840 p.K280 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 64 0 0.00 33 10 23.26 - - - KSR2 0 genome.wustl.edu 37 12 118199253 118199253 + Silent SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 12 118199253 118199253 G A SNP KSR2 ENST00000339824 human ensembl 69_37n -1 known silent c.549 p.C183 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors KSR2 HGNC ENSG00000171435 28 0 0.00 28 10 26.32 - - - LACTBL1 0 genome.wustl.edu 37 1 23285349 23285349 + Silent SNP C C T TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 1 23285349 23285349 C T SNP LACTBL1 ENST00000426928 human ensembl 69_37n -1 putative silent c.348 p.S116 0.981 pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region LACTBL1 HGNC ENSG00000215906 28 0 0.00 7 6 46.15 - - - LCE5A 0 genome.wustl.edu 37 1 152484086 152484086 + Missense_Mutation SNP C C A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 1 152484086 152484086 C A SNP LCE5A ENST00000334269 human ensembl 69_37n +1 known missense c.76 p.P26T 0.000 NULL NULL - no_errors LCE5A HGNC ENSG00000186207 66 0 0.00 43 7 14.00 - - - MLL3 0 genome.wustl.edu 37 7 151945576 151945577 + Frame_Shift_Ins INS - - AAAA TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 7 151945576 151945577 - AAAA INS MLL3 ENST00000355193 human ensembl 69_37n -1 known frame_shift_ins c.1943_1942 p.E648fs 1.000:1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 41 0 0.00 21 8 27.59 - - - MLLT10 0 genome.wustl.edu 37 10 21903799 21903799 + Missense_Mutation SNP T T G TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 10 21903799 21903799 T G SNP MLLT10 ENST00000307729 human ensembl 69_37n +1 known missense c.549 p.N183K 1.000 smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT10 HGNC ENSG00000078403 57 0 0.00 34 26 43.33 - - - MUC1 0 genome.wustl.edu 37 1 155159223 155159223 + RNA SNP C C T TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 1 155159223 155159223 C T SNP MUC1 ENST00000462317 human ensembl 69_37n -1 known rna NULL NULL 0.035 - - - no_errors MUC1 HGNC ENSG00000185499 53 0 0.00 44 12 21.43 - - - MUC17 0 genome.wustl.edu 37 7 100684931 100684931 + Missense_Mutation SNP G G T TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 7 100684931 100684931 G T SNP MUC17 ENST00000306151 human ensembl 69_37n +1 known missense c.10234 p.V3412F 0.000 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 61 0 0.00 25 22 46.81 - - - MUC4 0 genome.wustl.edu 37 3 195506542 195506542 + Missense_Mutation SNP G G T TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 3 195506542 195506542 G T SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known missense c.11909 p.P3970H 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 9 0 0.00 14 8 36.36 - - - MYH7 0 genome.wustl.edu 37 14 23887512 23887512 + Missense_Mutation SNP C C T TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 14 23887512 23887512 C T SNP MYH7 ENST00000355349 human ensembl 69_37n -1 known missense c.4076 p.R1359H 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 46 0 0.00 20 21 51.22 - - - MYH8 0 genome.wustl.edu 37 17 10312803 10312803 + Missense_Mutation SNP C C T TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 17 10312803 10312803 C T SNP MYH8 ENST00000403437 human ensembl 69_37n -1 known missense c.1690 p.A564T 0.006 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 57 0 0.00 29 4 11.76 - - - NFATC1 0 genome.wustl.edu 37 18 77211060 77211060 + Missense_Mutation SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 18 77211060 77211060 G A SNP NFATC1 ENST00000427363 human ensembl 69_37n +1 known missense c.1696 p.V566I 0.976 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,prints_NFAT,pfscan_RHD - no_errors NFATC1 HGNC ENSG00000131196 41 0 0.00 15 10 40.00 - - - NNMT 0 genome.wustl.edu 37 11 114183079 114183079 + Silent SNP G G C TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 11 114183079 114183079 G C SNP NNMT ENST00000299964 human ensembl 69_37n +1 known silent c.675 p.V225 0.002 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors NNMT HGNC ENSG00000166741 50 0 0.00 14 13 48.15 - - - NRG1 0 genome.wustl.edu 37 8 32505492 32505492 + Missense_Mutation SNP G G T TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 8 32505492 32505492 G T SNP NRG1 ENST00000520502 human ensembl 69_37n +1 known missense c.256 p.V86F 0.590 NULL smart_EGF-like,pfscan_EG-like_dom - no_errors NRG1 HGNC ENSG00000157168 38 0 0.00 24 6 20.00 - - - NSD1 0 genome.wustl.edu 37 5 176707706 176707706 + Missense_Mutation SNP C C G TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 5 176707706 176707706 C G SNP NSD1 ENST00000439151 human ensembl 69_37n +1 known missense c.5763 p.H1921Q 1.000 smart_AWS,pfscan_AWS pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 50 0 0.00 37 14 27.45 - - - OR2T34 0 genome.wustl.edu 37 1 248737167 248737167 + Missense_Mutation SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 1 248737167 248737167 G A SNP OR2T34 ENST00000328782 human ensembl 69_37n -1 known missense c.892 p.R298C 0.000 pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,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 OR2T34 HGNC ENSG00000183310 16 0 0.00 26 7 21.21 - - - OR4A15 0 genome.wustl.edu 37 11 55136330 55136330 + Missense_Mutation SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 11 55136330 55136330 G A SNP OR4A15 ENST00000314706 human ensembl 69_37n +1 known missense c.971 p.S324N 0.157 NULL pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4A15 HGNC ENSG00000181958 55 0 0.00 14 11 44.00 - - - OR52B6 0 genome.wustl.edu 37 11 5602887 5602887 + Missense_Mutation SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 11 5602887 5602887 G A SNP OR52B6 ENST00000345043 human ensembl 69_37n +1 known missense c.781 p.G261R 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR52B6 HGNC ENSG00000187747 79 0 0.00 53 8 13.11 - - - OTOG 0 genome.wustl.edu 37 11 17632615 17632615 + Missense_Mutation SNP T T C TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 11 17632615 17632615 T C SNP OTOG ENST00000399391 human ensembl 69_37n +1 known missense c.5804 p.M1935T 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom - no_errors OTOG HGNC ENSG00000188162 11 0 0.00 4 6 60.00 - - - OTUD6A 0 genome.wustl.edu 37 X 69282969 69282969 + Missense_Mutation SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 X 69282969 69282969 G A SNP OTUD6A ENST00000338352 human ensembl 69_37n +1 known missense c.595 p.G199S 0.000 pfam_OTU,pfscan_OTU pfam_OTU,pfscan_OTU - no_errors OTUD6A HGNC ENSG00000189401 32 0 0.00 14 5 26.32 - - - PAPPA2 0 genome.wustl.edu 37 1 176668567 176668567 + Missense_Mutation SNP T T G TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 1 176668567 176668567 T G SNP PAPPA2 ENST00000367662 human ensembl 69_37n +1 known missense c.3078 p.D1026E 1.000 superfamily_Fibronectin_type3 pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 76 0 0.00 48 46 48.94 - - - PCDHA6 0 genome.wustl.edu 37 5 140209181 140209181 + Missense_Mutation SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 5 140209181 140209181 G A SNP PCDHA6 ENST00000529310 human ensembl 69_37n +1 known missense c.1505 p.R502H 0.001 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 PCDHA6 HGNC ENSG00000081842 124 0 0.00 48 30 38.46 - - - PCDHGA12 0 genome.wustl.edu 37 5 140810542 140810542 + Silent SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 5 140810542 140810542 G A SNP PCDHGA12 ENST00000252085 human ensembl 69_37n +1 known silent c.216 p.T72 0.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 28 0 0.00 8 10 55.56 - - - PGAM4 0 genome.wustl.edu 37 X 77224968 77224968 + Silent SNP G G T TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 X 77224968 77224968 G T SNP PGAM4 ENST00000458128 human ensembl 69_37n -1 known silent c.168 p.L56 1.000 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 - no_errors PGAM4 HGNC ENSG00000226784 77 0 0.00 37 15 28.85 - - - PIK3CA 0 genome.wustl.edu 37 3 178921553 178921553 + Missense_Mutation SNP T T A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 3 178921553 178921553 T A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1035 p.N345K 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,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_Ca/lipid-bd_dom_CaLB,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 36 0 0.00 20 19 48.72 - - - PIK3CA 0 genome.wustl.edu 37 3 178947865 178947865 + Missense_Mutation SNP G G C TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 3 178947865 178947865 G C SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.2740 p.G914R 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_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_Ca/lipid-bd_dom_CaLB,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 66 0 0.00 30 31 50.82 - - - PLEKHA2 0 genome.wustl.edu 37 8 38803697 38803697 + Missense_Mutation SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 8 38803697 38803697 G A SNP PLEKHA2 ENST00000420274 human ensembl 69_37n +1 known missense c.303 p.M101I 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA2 HGNC ENSG00000169499 38 0 0.00 30 7 18.92 - - - PLEKHG1 0 genome.wustl.edu 37 6 151055058 151055058 + Missense_Mutation SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 6 151055058 151055058 G A SNP PLEKHG1 ENST00000358517 human ensembl 69_37n +1 known missense c.241 p.E81K 0.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 23 0 0.00 18 9 33.33 - - - PLEKHG1 0 genome.wustl.edu 37 6 151055078 151055078 + Silent SNP C C A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 6 151055078 151055078 C A SNP PLEKHG1 ENST00000358517 human ensembl 69_37n +1 known silent c.261 p.P87 0.557 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 19 0 0.00 14 10 41.67 - - - PLG 0 genome.wustl.edu 37 6 161128834 161128834 + Missense_Mutation SNP G G T TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 6 161128834 161128834 G T SNP PLG ENST00000308192 human ensembl 69_37n +1 known missense c.288 p.K96N 0.996 pirsf_Pept_S1A_plasmin,pfam_PAN-1_domain,superfamily_Kringle-like,smart_Pan_app,pfscan_Pan_app pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors PLG HGNC ENSG00000122194 105 0 0.00 105 13 11.02 - - - SARS 0 genome.wustl.edu 37 1 109756668 109756668 + Silent SNP C C G TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 1 109756668 109756668 C G SNP SARS ENST00000369923 human ensembl 69_37n +1 known silent c.54 p.L18 0.889 pfam_Ser-tRNA-synth_IIa_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-synth_IIa,tigrfam_Ser-tRNA-synth_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Ser-tRNA-synth_IIa_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-synth_IIa,tigrfam_Ser-tRNA-synth_IIa - no_errors SARS HGNC ENSG00000031698 56 0 0.00 24 5 17.24 - - - SEL1L3 0 genome.wustl.edu 37 4 25821433 25821433 + Missense_Mutation SNP C C T TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 4 25821433 25821433 C T SNP SEL1L3 ENST00000399878 human ensembl 69_37n -1 known missense c.1420 p.A474T 0.472 NULL pfam_Sel1-like,superfamily_ConA-like_lec_gl,smart_Sel1-like - no_errors SEL1L3 HGNC ENSG00000091490 66 0 0.00 42 7 14.29 - - - SLC5A4 0 genome.wustl.edu 37 22 32626965 32626965 + Silent SNP C C G TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 22 32626965 32626965 C G SNP SLC5A4 ENST00000266086 human ensembl 69_37n -1 known silent c.1119 p.L373 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A4 HGNC ENSG00000100191 37 0 0.00 9 16 64.00 - - - SNAPC3 0 genome.wustl.edu 37 9 15423978 15423978 + Missense_Mutation SNP C C G TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 9 15423978 15423978 C G SNP SNAPC3 ENST00000380821 human ensembl 69_37n +1 known missense c.386 p.T129S 1.000 NULL pfam_snRNA-activating_su3 - no_errors SNAPC3 HGNC ENSG00000164975 51 0 0.00 41 13 24.07 - - - SORCS3 0 genome.wustl.edu 37 10 107005371 107005371 + Missense_Mutation SNP G G C TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 10 107005371 107005371 G C SNP SORCS3 ENST00000369701 human ensembl 69_37n +1 known missense c.2940 p.Q980H 1.000 superfamily_PKD_dom pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 63 0 0.00 48 13 21.31 - - - SP140 0 genome.wustl.edu 37 2 231090581 231090581 + Missense_Mutation SNP G G C TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 2 231090581 231090581 G C SNP SP140 ENST00000392045 human ensembl 69_37n +1 known missense c.22 p.G8R 0.000 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140 HGNC ENSG00000079263 98 0 0.00 33 16 32.65 - - - SPTBN2 0 genome.wustl.edu 37 11 66453379 66453379 + Missense_Mutation SNP C C T TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 11 66453379 66453379 C T SNP SPTBN2 ENST00000309996 human ensembl 69_37n -1 known missense c.7136 p.R2379Q 1.000 pirsf_Spectrin_bsu pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,prints_PH_dom-spectrin-type - no_errors SPTBN2 HGNC ENSG00000173898 50 0 0.00 20 10 33.33 - - - SYF2 0 genome.wustl.edu 37 1 25558585 25558585 + RNA SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 1 25558585 25558585 G A SNP SYF2 ENST00000476231 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors SYF2 HGNC ENSG00000117614 104 0 0.00 48 17 26.15 - - - TBC1D30 0 genome.wustl.edu 37 12 65269392 65269392 + Missense_Mutation SNP T T A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 12 65269392 65269392 T A SNP TBC1D30 ENST00000229088 human ensembl 69_37n +1 known missense c.2599 p.S867T 0.001 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D30 HGNC ENSG00000111490 39 0 0.00 31 5 13.89 - - - TBC1D3P5 0 genome.wustl.edu 37 17 25756953 25756953 + RNA SNP C C T TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 17 25756953 25756953 C T SNP TBC1D3P5 ENST00000581469 human ensembl 69_37n +1 known rna NULL NULL 0.987 - - - no_errors TBC1D3P5 HGNC ENSG00000266433 23 0 0.00 11 20 64.52 - - - TEX10 0 genome.wustl.edu 37 9 103092448 103092448 + Silent SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 9 103092448 103092448 G A SNP TEX10 ENST00000374902 human ensembl 69_37n -1 known silent c.1254 p.I418 1.000 superfamily_ARM-type_fold pfam_IPI1-like_dom,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors TEX10 HGNC ENSG00000136891 57 0 0.00 25 14 35.90 - - - THOC2 0 genome.wustl.edu 37 X 122734860 122734860 + RNA SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 X 122734860 122734860 G A SNP THOC2 ENST00000492203 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors THOC2 HGNC ENSG00000125676 78 0 0.00 44 9 16.67 - - - THY1 0 genome.wustl.edu 37 11 119290034 119290034 + Missense_Mutation SNP G G C TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 11 119290034 119290034 G C SNP THY1 ENST00000524970 human ensembl 69_37n -1 known missense c.481 p.P161A 0.002 NULL pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon:bad_bp_length_for_coding_region THY1 HGNC ENSG00000154096 28 0 0.00 16 4 20.00 - - - TM4SF1 0 genome.wustl.edu 37 3 149095218 149095218 + Silent SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 3 149095218 149095218 G A SNP TM4SF1 ENST00000305366 human ensembl 69_37n -1 known silent c.117 p.S39 0.000 pfam_L6_membrane pfam_L6_membrane - no_errors TM4SF1 HGNC ENSG00000169908 54 0 0.00 29 13 30.95 - - - TMEM63A 0 genome.wustl.edu 37 1 226053738 226053738 + RNA SNP C C G TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 1 226053738 226053738 C G SNP TMEM63A ENST00000474478 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors TMEM63A HGNC ENSG00000196187 46 0 0.00 36 16 30.77 - - - TMEM69 0 genome.wustl.edu 37 1 46156753 46156753 + Missense_Mutation SNP A A C TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 1 46156753 46156753 A C SNP TMEM69 ENST00000372025 human ensembl 69_37n +1 known missense c.13 p.I5L 1.000 NULL pfam_DUF3429 - no_errors TMEM69 HGNC ENSG00000159596 45 0 0.00 8 7 46.67 - - - TNRC6B 0 genome.wustl.edu 37 22 40676008 40676008 + Nonsense_Mutation SNP C C A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 22 40676008 40676008 C A SNP TNRC6B ENST00000454349 human ensembl 69_37n +1 known nonsense c.3272 p.S1091* 1.000 superfamily_UBA-like pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 35 0 0.00 16 20 55.56 - - - TP53 0 genome.wustl.edu 37 17 7574005 7574005 + Missense_Mutation SNP A A G TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 17 7574005 7574005 A G SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.1022 p.F341S 0.935 pfam_p53_tetrameristn,superfamily_p53_tetrameristn,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 24 0 0.00 3 7 70.00 - - - TRAF4 0 genome.wustl.edu 37 17 27075097 27075097 + Silent SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 17 27075097 27075097 G A SNP TRAF4 ENST00000262395 human ensembl 69_37n +1 known silent c.363 p.L121 1.000 superfamily_TRAF-like,pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_TRAF pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF4 HGNC ENSG00000076604 33 0 0.00 5 11 68.75 - - - TRAF4 0 genome.wustl.edu 37 17 27075180 27075180 + Missense_Mutation SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 17 27075180 27075180 G A SNP TRAF4 ENST00000262395 human ensembl 69_37n +1 known missense c.446 p.S149N 1.000 superfamily_TRAF-like,pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_TRAF pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF4 HGNC ENSG00000076604 28 0 0.00 4 6 60.00 - - - TSPAN9 0 genome.wustl.edu 37 12 3392217 3392217 + Missense_Mutation SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 12 3392217 3392217 G A SNP TSPAN9 ENST00000011898 human ensembl 69_37n +1 known missense c.655 p.G219S 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN9 HGNC ENSG00000011105 34 0 0.00 12 9 42.86 - - - TTC37 0 genome.wustl.edu 37 5 94863727 94863727 + Missense_Mutation SNP G G C TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 5 94863727 94863727 G C SNP TTC37 ENST00000358746 human ensembl 69_37n -1 known missense c.1124 p.T375R 0.713 pfscan_TPR-contain_dom pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC37 HGNC ENSG00000198677 26 0 0.00 15 11 42.31 - - - VPS13D 0 genome.wustl.edu 37 1 12405430 12405430 + Splice_Site SNP G G T TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 1 12405430 12405430 G T SNP VPS13D ENST00000358136 human ensembl 69_37n +1 known splice_site c.8886-1 e42-1 1.000 - - - no_errors VPS13D HGNC ENSG00000048707 46 0 0.00 29 4 12.12 - - - WHSC1L1 0 genome.wustl.edu 37 8 38187391 38187391 + Silent SNP C C T TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 8 38187391 38187391 C T SNP WHSC1L1 ENST00000317025 human ensembl 69_37n -1 known silent c.1086 p.Q362 1.000 NULL pfam_PWWP,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors WHSC1L1 HGNC ENSG00000147548 23 0 0.00 17 15 46.88 - - - WISP2 0 genome.wustl.edu 37 20 43356514 43356514 + RNA SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 20 43356514 43356514 G A SNP WISP2 ENST00000471629 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors WISP2 HGNC ENSG00000064205 39 0 0.00 23 4 14.81 - - - XIST 0 genome.wustl.edu 37 X 73071663 73071663 + RNA SNP A A G TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 X 73071663 73071663 A G SNP XIST ENST00000429829 human ensembl 69_37n -1 known rna NULL NULL 0.074 - - - no_errors XIST HGNC ENSG00000229807 30 0 0.00 21 15 41.67 - - - ZBTB26 0 genome.wustl.edu 37 9 125681646 125681646 + Missense_Mutation SNP C C A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 9 125681646 125681646 C A SNP ZBTB26 ENST00000373654 human ensembl 69_37n -1 known missense c.568 p.D190Y 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB26 HGNC ENSG00000171448 56 0 0.00 38 21 35.59 - - - ZMAT1 0 genome.wustl.edu 37 X 101139060 101139060 + Missense_Mutation SNP C C G TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 X 101139060 101139060 C G SNP ZMAT1 ENST00000372782 human ensembl 69_37n -1 known missense c.1339 p.E447Q 0.673 NULL superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT1 HGNC ENSG00000166432 67 0 0.00 27 26 49.06 - - - ZNF585A 0 genome.wustl.edu 37 19 37643190 37643190 + Silent SNP G G A TCGA-E2-A2P5-01A-11D-A19Y-09 TCGA-E2-A2P5-10B-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 34e624a6-5da3-4150-bfb8-d86ee8732d08 4bce079d-bbf4-481c-8aab-a007e90d4e97 19 37643190 37643190 G A SNP ZNF585A ENST00000356958 human ensembl 69_37n -1 known silent c.1611 p.L537 0.009 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 ZNF585A HGNC ENSG00000196967 73 0 0.00 39 7 15.22 - - -