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 ABCB9 0 genome.wustl.edu 37 12 123419951 123419951 + Silent SNP G G A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 12 123419951 123419951 G A SNP ABCB9 ENST00000442028 human ensembl 69_37n -1 known silent c.1771 p.L591 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,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB9 HGNC ENSG00000150967 40 0 0.00 21 4 16.00 - - - ABCG4 0 genome.wustl.edu 37 11 119027390 119027390 + Splice_Site SNP T T A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 11 119027390 119027390 T A SNP ABCG4 ENST00000307417 human ensembl 69_37n +1 known splice_site c.925+2 e7+2 1.000 - - - no_errors ABCG4 HGNC ENSG00000172350 27 0 0.00 21 9 30.00 - - - ACCS 0 genome.wustl.edu 37 11 44102768 44102768 + Missense_Mutation SNP A A G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 11 44102768 44102768 A G SNP ACCS ENST00000263776 human ensembl 69_37n +1 known missense c.1009 p.T337A 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_ACC_synthase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_ACC_synthase - no_errors ACCS HGNC ENSG00000110455 43 0 0.00 10 9 47.37 - - - ACVR1C 0 genome.wustl.edu 37 2 158412843 158412843 + Silent SNP T T G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 2 158412843 158412843 T G SNP ACVR1C ENST00000243349 human ensembl 69_37n -1 known silent c.306 p.A102 0.457 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ACVR1C HGNC ENSG00000123612 38 0 0.00 31 19 38.00 - - - ADCY1 0 genome.wustl.edu 37 7 45703971 45703971 + Silent SNP G G A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 7 45703971 45703971 G A SNP ADCY1 ENST00000432715 human ensembl 69_37n +1 putative silent c.1014 p.T338 0.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 43 0 0.00 23 4 14.29 - - - ADCY1 0 genome.wustl.edu 37 7 45725735 45725735 + Missense_Mutation SNP T T G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 7 45725735 45725735 T G SNP ADCY1 ENST00000297323 human ensembl 69_37n +1 known missense c.2248 p.L750V 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 75 0 0.00 43 11 20.37 - - - ADRA1A 0 genome.wustl.edu 37 8 26722177 26722177 + Missense_Mutation SNP C C A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 8 26722177 26722177 C A SNP ADRA1A ENST00000380586 human ensembl 69_37n -1 known missense c.310 p.A104S 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Adrene_rcpt_A1Cs,prints_7TM_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRA1A HGNC ENSG00000120907 39 0 0.00 6 13 68.42 - - - AGTR1 0 genome.wustl.edu 37 3 148459738 148459738 + Missense_Mutation SNP G G T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 3 148459738 148459738 G T SNP AGTR1 ENST00000349243 human ensembl 69_37n +1 known missense c.916 p.G306W 1.000 prints_ATII_AT1_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_ATII_AT1_rcpt,prints_ATII_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Frt_met_rcpt,prints_Brdyknn_rcpt,prints_P2_purnocptor - no_errors AGTR1 HGNC ENSG00000144891 22 0 0.00 20 15 42.86 - - - AKAP8L 0 genome.wustl.edu 37 19 15512205 15512205 + Missense_Mutation SNP C C G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 19 15512205 15512205 C G SNP AKAP8L ENST00000397410 human ensembl 69_37n -1 known missense c.572 p.R191P 0.992 NULL pfam_AKAP95 - no_errors AKAP8L HGNC ENSG00000011243 55 0 0.00 43 22 33.33 - - - ALK 0 genome.wustl.edu 37 2 29420462 29420462 + Missense_Mutation SNP T T A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 2 29420462 29420462 T A SNP ALK ENST00000389048 human ensembl 69_37n -1 known missense c.4019 p.E1340V 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 45 0 0.00 39 7 14.89 - - - ALS2CR11 0 genome.wustl.edu 37 2 202357128 202357128 + Missense_Mutation SNP A A C TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 2 202357128 202357128 A C SNP ALS2CR11 ENST00000439140 human ensembl 69_37n -1 novel missense c.3936 p.N1312K 0.944 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors ALS2CR11 HGNC ENSG00000155754 19 0 0.00 19 11 36.67 - - - AMPH 0 genome.wustl.edu 37 7 38467842 38467842 + RNA SNP A A G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 7 38467842 38467842 A G SNP AMPH ENST00000471913 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors AMPH HGNC ENSG00000078053 58 0 0.00 52 7 11.86 - - - AMPH 0 genome.wustl.edu 37 7 38468463 38468463 + RNA SNP C C T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 7 38468463 38468463 C T SNP AMPH ENST00000467580 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors AMPH HGNC ENSG00000078053 38 0 0.00 30 4 11.43 - - - ANKRD36 0 genome.wustl.edu 37 2 97860487 97860487 + Missense_Mutation SNP T T C TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 2 97860487 97860487 T C SNP ANKRD36 ENST00000420699 human ensembl 69_37n +1 known missense c.2474 p.L825S 0.064 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 120 0 0.00 112 13 10.40 - - - ANO4 0 genome.wustl.edu 37 12 101133704 101133704 + Frame_Shift_Del DEL C C - TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 12 101133704 101133704 C - DEL ANO4 ENST00000538618 human ensembl 69_37n +1 known frame_shift_del c.179 p.L61fs 0.959 NULL NULL - no_errors ANO4 HGNC ENSG00000151572 82 0 0.00 31 4 11.43 - - - ANO4 0 genome.wustl.edu 37 12 101133706 101133706 + Missense_Mutation SNP C C A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 12 101133706 101133706 C A SNP ANO4 ENST00000538618 human ensembl 69_37n +1 known missense c.181 p.L61I 0.997 NULL NULL - no_errors ANO4 HGNC ENSG00000151572 91 0 0.00 33 4 10.81 - - - ARHGAP21 0 genome.wustl.edu 37 10 24874322 24874322 + Silent SNP A A C TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 10 24874322 24874322 A C SNP ARHGAP21 ENST00000396432 human ensembl 69_37n -1 known silent c.4896 p.P1632 0.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 118 0 0.00 115 34 22.67 - - - ARHGAP6 0 genome.wustl.edu 37 X 11162204 11162204 + Missense_Mutation SNP C C A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed X 11162204 11162204 C A SNP ARHGAP6 ENST00000337414 human ensembl 69_37n -1 known missense c.2072 p.G691V 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 49 0 0.00 31 4 11.43 - - - ARHGEF15 0 genome.wustl.edu 37 17 8221893 8221893 + Silent SNP C C T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 17 8221893 8221893 C T SNP ARHGEF15 ENST00000361926 human ensembl 69_37n +1 known silent c.1785 p.I595 0.933 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 28 0 0.00 7 9 56.25 - - - ARSA 0 genome.wustl.edu 37 22 51065410 51065410 + Missense_Mutation SNP A A T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 22 51065410 51065410 A T SNP ARSA ENST00000216124 human ensembl 69_37n -1 known missense c.536 p.V179D 0.998 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSA HGNC ENSG00000100299 12 0 0.00 17 7 29.17 - - - ASTN1 0 genome.wustl.edu 37 1 176852105 176852105 + Missense_Mutation SNP G G T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 1 176852105 176852105 G T SNP ASTN1 ENST00000367654 human ensembl 69_37n -1 known missense c.3276 p.D1092E 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,smart_EGF-like,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 62 0 0.00 33 7 17.50 - - - ATP6V0B 0 genome.wustl.edu 37 1 44440642 44440642 + RNA SNP A A G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 1 44440642 44440642 A G SNP ATP6V0B ENST00000472277 human ensembl 69_37n +1 known rna NULL NULL 0.363 - - - no_errors ATP6V0B HGNC ENSG00000117410 8 0 0.00 2 4 66.67 - - - ATXN7L1 0 genome.wustl.edu 37 7 105254755 105254755 + Nonsense_Mutation SNP T T A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 7 105254755 105254755 T A SNP ATXN7L1 ENST00000419735 human ensembl 69_37n -1 known nonsense c.2026 p.K676* 1.000 NULL pfam_SCA7_dom - no_errors ATXN7L1 HGNC ENSG00000146776 39 0 0.00 32 4 11.11 - - - BRSK1 0 genome.wustl.edu 37 19 55820028 55820028 + Missense_Mutation SNP G G C TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 19 55820028 55820028 G C SNP BRSK1 ENST00000590333 human ensembl 69_37n +1 known missense c.2159 p.R720P 0.997 NULL 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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors BRSK1 HGNC ENSG00000160469 82 0 0.00 39 6 13.33 - - - C10orf112 0 genome.wustl.edu 37 10 19678226 19678226 + Missense_Mutation SNP C C T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 10 19678226 19678226 C T SNP C10orf112 ENST00000454679 human ensembl 69_37n +1 known missense c.2690 p.A897V 0.000 superfamily_ConA-like_lec_gl pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_MAM_dom - no_errors C10orf112 HGNC ENSG00000204740 32 0 0.00 36 10 21.74 - - - C12orf69 0 genome.wustl.edu 37 12 14959605 14959606 + Frame_Shift_Del DEL TT TT - TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 12 14959605 14959606 TT - DEL C12orf69 ENST00000316048 human ensembl 69_37n -1 known frame_shift_del c.10_9 p.S4fs 0.998:0.961 NULL NULL - no_errors C12orf69 HGNC ENSG00000179256 21 0 0.00 39 8 17.02 - - - C1orf127 0 genome.wustl.edu 37 1 11014110 11014110 + Missense_Mutation SNP G G A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 1 11014110 11014110 G A SNP C1orf127 ENST00000520253 human ensembl 69_37n -1 putative missense c.998 p.S333F 0.000 NULL superfamily_DNA-bd_dom_put - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region C1orf127 HGNC ENSG00000175262 49 0 0.00 18 13 41.94 - - - C2orf27A 0 genome.wustl.edu 37 2 132494182 132494182 + RNA SNP G G C TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 2 132494182 132494182 G C SNP C2orf27A ENST00000466372 human ensembl 69_37n +1 putative rna NULL NULL 1.000 - - - no_errors C2orf27A HGNC ENSG00000197927 61 0 0.00 54 6 10.00 - - - C7 0 genome.wustl.edu 37 5 40981594 40981594 + Missense_Mutation SNP G G T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 5 40981594 40981594 G T SNP C7 ENST00000313164 human ensembl 69_37n +1 known missense c.2451 p.E817D 0.997 smart_FacI_MAC pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C7 HGNC ENSG00000112936 41 0 0.00 33 8 19.51 - - - C7orf73 0 genome.wustl.edu 37 7 135377238 135377238 + RNA SNP T T G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 7 135377238 135377238 T G SNP C7orf73 ENST00000422968 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors C7orf73 HGNC ENSG00000243317 13 0 0.00 10 4 28.57 - - - C8orf76 0 genome.wustl.edu 37 8 124232476 124232476 + Missense_Mutation SNP A A G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 8 124232476 124232476 A G SNP C8orf76 ENST00000276704 human ensembl 69_37n -1 known missense c.1010 p.V337A 0.922 NULL NULL - no_errors C8orf76 HGNC ENSG00000189376 33 0 0.00 62 9 12.68 - - - C9orf171 0 genome.wustl.edu 37 9 135374986 135374986 + Nonsense_Mutation SNP C C T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 9 135374986 135374986 C T SNP C9orf171 ENST00000393215 human ensembl 69_37n +1 putative nonsense c.523 p.R175* 1.000 NULL NULL - no_errors C9orf171 HGNC ENSG00000188523 37 0 0.00 9 11 55.00 - - - CD53 0 genome.wustl.edu 37 1 111440293 111440293 + RNA SNP C C G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 1 111440293 111440293 C G SNP CD53 ENST00000464329 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors CD53 HGNC ENSG00000143119 15 0 0.00 11 5 31.25 - - - CD7 0 genome.wustl.edu 37 17 80274097 80274097 + Missense_Mutation SNP C C A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 17 80274097 80274097 C A SNP CD7 ENST00000312648 human ensembl 69_37n -1 known missense c.586 p.V196L 0.124 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CD7 HGNC ENSG00000173762 41 0 0.00 41 11 21.15 - - - CENPE 0 genome.wustl.edu 37 4 104079587 104079587 + Missense_Mutation SNP T T G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 4 104079587 104079587 T G SNP CENPE ENST00000265148 human ensembl 69_37n -1 known missense c.2903 p.N968T 0.997 NULL pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 16 0 0.00 19 5 20.83 - - - CENPI 0 genome.wustl.edu 37 X 100387395 100387395 + Missense_Mutation SNP C C A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed X 100387395 100387395 C A SNP CENPI ENST00000372927 human ensembl 69_37n +1 known missense c.1420 p.L474I 0.995 pfam_Centromere_CenpI pfam_Centromere_CenpI - no_errors CENPI HGNC ENSG00000102384 32 0 0.00 45 8 15.09 - - - CLEC3B 0 genome.wustl.edu 37 3 45072372 45072372 + Missense_Mutation SNP G G T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 3 45072372 45072372 G T SNP CLEC3B ENST00000296130 human ensembl 69_37n +1 known missense c.163 p.A55S 1.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_Pancreatis_ac - no_errors CLEC3B HGNC ENSG00000163815 47 0 0.00 10 7 41.18 - - - COL6A2 0 genome.wustl.edu 37 21 47545705 47545705 + Missense_Mutation SNP G G A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 21 47545705 47545705 G A SNP COL6A2 ENST00000300527 human ensembl 69_37n +1 known missense c.1976 p.R659H 0.995 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 104 0 0.00 111 19 14.62 - - - CXADR 0 genome.wustl.edu 37 21 18933747 18933747 + Silent SNP A A G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 21 18933747 18933747 A G SNP CXADR ENST00000284878 human ensembl 69_37n +1 known silent c.786 p.K262 0.993 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CXADR HGNC ENSG00000154639 36 0 0.00 21 15 41.67 - - - CYP51A1 0 genome.wustl.edu 37 7 91743114 91743114 + Missense_Mutation SNP A A C TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 7 91743114 91743114 A C SNP CYP51A1 ENST00000003100 human ensembl 69_37n -1 known missense c.1395 p.I465M 0.801 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP51A1 HGNC ENSG00000001630 25 0 0.00 21 7 25.00 - - - DAAM1 0 genome.wustl.edu 37 14 59835650 59835650 + RNA SNP G G A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 14 59835650 59835650 G A SNP DAAM1 ENST00000553966 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors DAAM1 HGNC ENSG00000100592 52 0 0.00 40 9 18.37 - - - DCHS1 0 genome.wustl.edu 37 11 6652952 6652952 + Silent SNP G G C TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 11 6652952 6652952 G C SNP DCHS1 ENST00000299441 human ensembl 69_37n -1 known silent c.3570 p.P1190 0.988 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 28 0 0.00 7 15 68.18 - - - DDX53 0 genome.wustl.edu 37 X 23018405 23018405 + Silent SNP G G C TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed X 23018405 23018405 G C SNP DDX53 ENST00000327968 human ensembl 69_37n +1 known silent c.231 p.S77 0.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX53 HGNC ENSG00000184735 51 0 0.00 14 15 51.72 - - - DNAJC7 0 genome.wustl.edu 37 17 40148414 40148414 + Missense_Mutation SNP A A G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 17 40148414 40148414 A G SNP DNAJC7 ENST00000457167 human ensembl 69_37n -1 known missense c.320 p.L107P 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,pfam_DnaJ_N,superfamily_DnaJ_N,smart_TPR_repeat,smart_DnaJ_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC7 HGNC ENSG00000168259 51 0 0.00 16 19 54.29 - - - DUSP16 0 genome.wustl.edu 37 12 12673999 12673999 + Missense_Mutation SNP T T A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 12 12673999 12673999 T A SNP DUSP16 ENST00000228862 human ensembl 69_37n -1 known missense c.34 p.T12S 1.000 superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP16 HGNC ENSG00000111266 82 0 0.00 111 37 25.00 - - - EIF2D 0 genome.wustl.edu 37 1 206769147 206769147 + Missense_Mutation SNP G G A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 1 206769147 206769147 G A SNP EIF2D ENST00000271764 human ensembl 69_37n -1 known missense c.1429 p.P477S 0.987 superfamily_TIF_SUI1 pfam_TIF_SUI1,superfamily_TIF_SUI1,superfamily_SWIB_MDM2_domain,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,pfscan_TIF_SUI1 - no_errors EIF2D HGNC ENSG00000143486 53 0 0.00 37 15 28.85 - - - EIF4A2 0 genome.wustl.edu 37 3 186504432 186504432 + Missense_Mutation SNP G G C TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 3 186504432 186504432 G C SNP EIF4A2 ENST00000440191 human ensembl 69_37n +1 known missense c.772 p.E258Q 1.000 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A2 HGNC ENSG00000156976 48 0 0.00 61 7 10.29 - - - EPB41L4A 0 genome.wustl.edu 37 5 111481600 111481600 + RNA SNP A A T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 5 111481600 111481600 A T SNP EPB41L4A ENST00000507810 human ensembl 69_37n -1 known rna NULL NULL 0.003 - - - no_errors EPB41L4A HGNC ENSG00000129595 62 0 0.00 32 5 13.51 - - - EYS 0 genome.wustl.edu 37 6 64436412 64436412 + Missense_Mutation SNP C C G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 6 64436412 64436412 C G SNP EYS ENST00000370616 human ensembl 69_37n -1 known missense c.8296 p.G2766R 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 36 0 0.00 27 5 15.62 - - - FAM20C 0 genome.wustl.edu 37 7 195732 195735 + Frame_Shift_Del DEL GGTA GGTA - TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 GGTA GGTA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 7 195732 195735 GGTA - DEL FAM20C ENST00000313766 human ensembl 69_37n +1 known frame_shift_del c.784 p.A262fs 1.000 NULL pfam_DUF1193 - no_errors FAM20C HGNC ENSG00000177706 43 0 0.00 30 4 11.43 - - - FAM3A 0 genome.wustl.edu 37 X 153736153 153736153 + Missense_Mutation SNP A A T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed X 153736153 153736153 A T SNP FAM3A ENST00000359889 human ensembl 69_37n -1 known missense c.374 p.M125K 1.000 NULL NULL - no_errors FAM3A HGNC ENSG00000071889 57 0 0.00 36 6 14.29 - - - FAM86HP 0 genome.wustl.edu 37 3 129822633 129822633 + RNA SNP C C A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 3 129822633 129822633 C A SNP FAM86HP ENST00000506448 human ensembl 69_37n -1 putative rna NULL NULL 0.045 - - - no_errors FAM86HP HGNC ENSG00000253540 160 1 0.62 56 46 44.66 - - - FCHSD1 0 genome.wustl.edu 37 5 141025453 141025453 + Missense_Mutation SNP G G A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 5 141025453 141025453 G A SNP FCHSD1 ENST00000435817 human ensembl 69_37n -1 known missense c.1196 p.A399V 0.997 NULL pfam_SH3_domain,pfam_SH3_2,pfam_FCH,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain - no_errors FCHSD1 HGNC ENSG00000197948 65 0 0.00 14 20 58.82 - - - GALNS 0 genome.wustl.edu 37 16 88904078 88904080 + In_Frame_Del DEL TTG TTG - TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 TTG TTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 16 88904078 88904080 TTG - DEL GALNS ENST00000268695 human ensembl 69_37n -1 known in_frame_del c.518_516 p.N172in_frame_del 0.581:0.999:1.000 pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors GALNS HGNC ENSG00000141012 83 0 0.00 41 5 10.64 - - - GAS2L3 0 genome.wustl.edu 37 12 100994202 100994202 + Silent SNP C C T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 12 100994202 100994202 C T SNP GAS2L3 ENST00000266754 human ensembl 69_37n +1 known silent c.61 p.L21 1.000 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L3 HGNC ENSG00000139354 35 0 0.00 13 10 43.48 - - - GOLGA6L2 0 genome.wustl.edu 37 15 23692290 23692290 + Missense_Mutation SNP C C T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 15 23692290 23692290 C T SNP GOLGA6L2 ENST00000566571 human ensembl 69_37n -1 known missense c.39 p.M13I 0.099 NULL NULL - no_errors GOLGA6L2 HGNC ENSG00000174450 67 0 0.00 12 4 25.00 - - - GPR133 0 genome.wustl.edu 37 12 131590371 131590371 + Missense_Mutation SNP G G T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 12 131590371 131590371 G T SNP GPR133 ENST00000261654 human ensembl 69_37n +1 known missense c.1848 p.Q616H 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR133 HGNC ENSG00000111452 61 0 0.00 7 17 70.83 - - - GRIK3 0 genome.wustl.edu 37 1 37356521 37356521 + Missense_Mutation SNP C C A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 1 37356521 37356521 C A SNP GRIK3 ENST00000373091 human ensembl 69_37n -1 known missense c.292 p.A98S 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 95 0 0.00 53 9 14.52 - - - GSDMA 0 genome.wustl.edu 37 17 38132225 38132225 + Missense_Mutation SNP A A C TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 17 38132225 38132225 A C SNP GSDMA ENST00000301659 human ensembl 69_37n +1 known missense c.1070 p.K357T 1.000 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMA HGNC ENSG00000167914 43 0 0.00 14 4 22.22 - - - GSPT1 0 genome.wustl.edu 37 16 11979099 11979099 + Missense_Mutation SNP A A C TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 16 11979099 11979099 A C SNP GSPT1 ENST00000434724 human ensembl 69_37n -1 known missense c.1286 p.L429W 1.000 NULL pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd - no_errors GSPT1 HGNC ENSG00000103342 36 0 0.00 37 8 17.78 - - - H19 0 genome.wustl.edu 37 11 2018168 2018168 + RNA SNP C C T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 11 2018168 2018168 C T SNP H19 ENST00000411754 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors H19 HGNC ENSG00000130600 56 0 0.00 43 5 10.42 - - - HERC2 0 genome.wustl.edu 37 15 28386674 28386674 + Silent SNP G G T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 15 28386674 28386674 G T SNP HERC2 ENST00000261609 human ensembl 69_37n -1 known silent c.11919 p.V3973 0.101 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Beta-propeller_rpt_TECPR,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 77 0 0.00 22 13 37.14 - - - HIVEP2 0 genome.wustl.edu 37 6 143092672 143092672 + Silent SNP C C G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 6 143092672 143092672 C G SNP HIVEP2 ENST00000012134 human ensembl 69_37n -1 known silent c.3204 p.T1068 0.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 49 0 0.00 19 18 47.37 - - - ICAM2 0 genome.wustl.edu 37 17 62083991 62083991 + Nonsense_Mutation SNP C C A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 17 62083991 62083991 C A SNP ICAM2 ENST00000412356 human ensembl 69_37n -1 known nonsense c.61 p.G21* 0.999 pfam_ICAM_N pfam_ICAM_N,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM2 HGNC ENSG00000108622 32 0 0.00 6 14 70.00 - - - IGLV11-55 0 genome.wustl.edu 37 22 22556320 22556320 + Missense_Mutation SNP G G T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 22 22556320 22556320 G T SNP IGLV11-55 ENST00000390286 human ensembl 69_37n +1 known missense c.134 p.S45I 0.650 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGLV11-55 HGNC ENSG00000211641 27 0 0.00 12 18 60.00 - - - IGSF10 0 genome.wustl.edu 37 3 151164277 151164277 + Silent SNP A A C TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 3 151164277 151164277 A C SNP IGSF10 ENST00000282466 human ensembl 69_37n -1 known silent c.3492 p.R1164 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF10 HGNC ENSG00000152580 123 0 0.00 82 63 43.15 - - - INMT 0 genome.wustl.edu 37 7 30795547 30795547 + RNA SNP A A G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 7 30795547 30795547 A G SNP INMT ENST00000484180 human ensembl 69_37n +1 known rna NULL NULL 0.002 - - - no_errors INMT HGNC ENSG00000241644 9 0 0.00 7 5 41.67 - - - IQGAP3 0 genome.wustl.edu 37 1 156536205 156536205 + Missense_Mutation SNP C C T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 1 156536205 156536205 C T SNP IQGAP3 ENST00000361170 human ensembl 69_37n -1 known missense c.259 p.D87N 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 25 0 0.00 18 12 40.00 - - - KCNJ3 0 genome.wustl.edu 37 2 155711382 155711382 + Missense_Mutation SNP C C A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 2 155711382 155711382 C A SNP KCNJ3 ENST00000295101 human ensembl 69_37n +1 known missense c.1063 p.P355T 1.000 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.1,prints_K_chnl_inward-rec_Kir_Cr2 - no_errors KCNJ3 HGNC ENSG00000162989 69 0 0.00 52 8 13.33 - - - KIAA0430 0 genome.wustl.edu 37 16 15696471 15696472 + Frame_Shift_Ins INS - - G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 16 15696471 15696472 - G INS KIAA0430 ENST00000344181 human ensembl 69_37n -1 known frame_shift_ins c.3348_3347 p.P1117fs 0.008:0.011 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 14 0 0.00 13 5 27.78 - - - LGALS3BP 0 genome.wustl.edu 37 17 76972047 76972047 + Missense_Mutation SNP C C G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 17 76972047 76972047 C G SNP LGALS3BP ENST00000262776 human ensembl 69_37n -1 known missense c.244 p.G82R 1.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,pfam_BACK,superfamily_Srcr_rcpt-rel,superfamily_BTB/POZ_fold,smart_Srcr_rcpt-rel,smart_BACK,prints_Srcr_rcpt,pfscan_BTB/POZ-like,pfscan_Srcr_rcpt - no_errors LGALS3BP HGNC ENSG00000108679 37 0 0.00 39 10 20.41 - - - LGR5 0 genome.wustl.edu 37 12 71965338 71965338 + Missense_Mutation SNP T T C TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 12 71965338 71965338 T C SNP LGR5 ENST00000266674 human ensembl 69_37n +1 known missense c.1115 p.V372A 0.977 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_7TM_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_supfam,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors LGR5 HGNC ENSG00000139292 37 0 0.00 30 14 31.11 - - - LINC00087 0 genome.wustl.edu 37 X 134232581 134232581 + RNA SNP G G T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed X 134232581 134232581 G T SNP LINC00087 ENST00000433425 human ensembl 69_37n -1 known rna NULL NULL 0.219 - - - no_errors LINC00087 HGNC ENSG00000196972 70 0 0.00 13 5 27.78 - - - LINGO2 0 genome.wustl.edu 37 9 27949115 27949115 + Missense_Mutation SNP T T A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 9 27949115 27949115 T A SNP LINGO2 ENST00000308675 human ensembl 69_37n -1 known missense c.1555 p.T519S 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LINGO2 HGNC ENSG00000174482 74 0 0.00 19 9 32.14 - - - LPIN3 0 genome.wustl.edu 37 20 39977740 39977740 + Nonsense_Mutation SNP T T A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 20 39977740 39977740 T A SNP LPIN3 ENST00000373257 human ensembl 69_37n +1 known nonsense c.566 p.L189* 0.000 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN3 HGNC ENSG00000132793 59 0 0.00 32 9 21.95 - - - LRP1 0 genome.wustl.edu 37 12 57590002 57590002 + Missense_Mutation SNP T T A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 12 57590002 57590002 T A SNP LRP1 ENST00000243077 human ensembl 69_37n +1 known missense c.8834 p.L2945H 1.000 superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 96 0 0.00 63 24 27.59 - - - LRP1B 0 genome.wustl.edu 37 2 141032147 141032147 + Missense_Mutation SNP C C A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 2 141032147 141032147 C A SNP LRP1B ENST00000389484 human ensembl 69_37n -1 known missense c.12988 p.V4330L 1.000 smart_EGF-like,pfscan_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 59 0 0.00 45 9 16.67 - - - LY75 0 genome.wustl.edu 37 2 160714973 160714973 + Silent SNP T T A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 2 160714973 160714973 T A SNP LY75 ENST00000554112 human ensembl 69_37n -1 known silent c.2283 p.P761 0.123 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,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 - no_errors LY75 HGNC ENSG00000054219 37 0 0.00 21 13 38.24 - - - LYZL1 0 genome.wustl.edu 37 10 29578111 29578111 + Missense_Mutation SNP C C T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 10 29578111 29578111 C T SNP LYZL1 ENST00000375500 human ensembl 69_37n +1 known missense c.65 p.S22L 0.001 NULL pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors LYZL1 HGNC ENSG00000120563 56 0 0.00 40 5 11.11 - - - MACF1 0 genome.wustl.edu 37 1 39793021 39793021 + Missense_Mutation SNP A A C TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 1 39793021 39793021 A C SNP MACF1 ENST00000317713 human ensembl 69_37n +1 known missense c.4625 p.Q1542P 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC ENSG00000127603 32 0 0.00 28 10 26.32 - - - MALSU1 0 genome.wustl.edu 37 7 23338986 23338986 + Silent SNP C C T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 7 23338986 23338986 C T SNP MALSU1 ENST00000466681 human ensembl 69_37n +1 known silent c.15 p.G5 0.000 NULL pfam_Oligomer_dom,tigrfam_Ribosome-assoc_Iojap-like - no_errors MALSU1 HGNC ENSG00000156928 15 0 0.00 8 7 46.67 - - - MAP3K5 0 genome.wustl.edu 37 6 137018482 137018482 + Missense_Mutation SNP G G C TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 6 137018482 137018482 G C SNP MAP3K5 ENST00000359015 human ensembl 69_37n -1 known missense c.850 p.R284G 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 27 0 0.00 16 13 44.83 - - - MAP3K7 0 genome.wustl.edu 37 6 91226129 91226129 + RNA SNP C C G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 6 91226129 91226129 C G SNP MAP3K7 ENST00000479630 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors MAP3K7 HGNC ENSG00000135341 12 0 0.00 4 11 73.33 - - - MCF2 0 genome.wustl.edu 37 X 138680641 138680641 + Nonsense_Mutation SNP A A T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed X 138680641 138680641 A T SNP MCF2 ENST00000370578 human ensembl 69_37n -1 known nonsense c.2288 p.L763* 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2 HGNC ENSG00000101977 44 0 0.00 24 5 17.24 - - - METTL2B 0 genome.wustl.edu 37 7 128095923 128095923 + Silent SNP C C T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 7 128095923 128095923 C T SNP METTL2B ENST00000462662 human ensembl 69_37n +1 putative silent c.30 p.G10 0.000 NULL NULL - no_start_codon:no_stop_codon:bad_bp_length_for_coding_region METTL2B HGNC ENSG00000165055 86 0 0.00 35 19 35.19 - - - MICAL1 0 genome.wustl.edu 37 6 109767568 109767568 + Silent SNP A A G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 6 109767568 109767568 A G SNP MICAL1 ENST00000368952 human ensembl 69_37n -1 known silent c.2409 p.T803 0.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICAL1 HGNC ENSG00000135596 65 0 0.00 70 9 11.39 - - - MIR4277 0 genome.wustl.edu 37 5 1708983 1708983 + RNA SNP G G A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 5 1708983 1708983 G A SNP MIR4277 ENST00000578298 human ensembl 69_37n -1 known rna NULL NULL 0.007 - - - no_errors MIR4277 HGNC ENSG00000263746 39 0 0.00 39 6 13.04 - - - MPZL1 0 genome.wustl.edu 37 1 167757608 167757608 + RNA SNP T T C TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 1 167757608 167757608 T C SNP MPZL1 ENST00000403379 human ensembl 69_37n +1 putative rna NULL NULL 0.001 - - - no_errors MPZL1 HGNC ENSG00000197965 33 0 0.00 31 4 11.43 - - - MRVI1-AS1 0 genome.wustl.edu 37 11 10615516 10615516 + RNA SNP T T C TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 11 10615516 10615516 T C SNP MRVI1-AS1 ENST00000525578 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors MRVI1-AS1 HGNC ENSG00000177112 11 0 0.00 3 7 70.00 - - - MTO1 0 genome.wustl.edu 37 6 74207461 74207461 + Missense_Mutation SNP A A G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 6 74207461 74207461 A G SNP MTO1 ENST00000415954 human ensembl 69_37n +1 known missense c.1879 p.T627A 0.921 NULL pfam_GIDA-rel,pfam_FAD_bind_dom,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_GidA - no_errors MTO1 HGNC ENSG00000135297 49 0 0.00 41 14 25.45 - - - MUC17 0 genome.wustl.edu 37 7 100680493 100680493 + Silent SNP T T A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 7 100680493 100680493 T A SNP MUC17 ENST00000306151 human ensembl 69_37n +1 known silent c.5796 p.P1932 0.000 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 63 0 0.00 45 14 23.73 - - - MUC17 0 genome.wustl.edu 37 7 100681460 100681460 + Missense_Mutation SNP A A T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 7 100681460 100681460 A T SNP MUC17 ENST00000306151 human ensembl 69_37n +1 known missense c.6763 p.T2255S 0.006 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 104 1 0.94 52 10 15.87 - - - MYH2 0 genome.wustl.edu 37 17 10426683 10426683 + Missense_Mutation SNP G G T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 17 10426683 10426683 G T SNP MYH2 ENST00000245503 human ensembl 69_37n -1 known missense c.5519 p.A1840D 0.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 56 0 0.00 15 27 64.29 - - - NADSYN1 0 genome.wustl.edu 37 11 71189512 71189512 + Nonsense_Mutation SNP G G A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 11 71189512 71189512 G A SNP NADSYN1 ENST00000527852 human ensembl 69_37n +1 known nonsense c.164 p.W55* 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NADSYN1 HGNC ENSG00000172890 33 0 0.00 20 7 25.93 - - - NR6A1 0 genome.wustl.edu 37 9 127316675 127316675 + Missense_Mutation SNP C C T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 9 127316675 127316675 C T SNP NR6A1 ENST00000487099 human ensembl 69_37n -1 known missense c.317 p.R106Q 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR6A1 HGNC ENSG00000148200 37 0 0.00 10 10 50.00 - - - NUB1 0 genome.wustl.edu 37 7 151049231 151049231 + Missense_Mutation SNP C C T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 7 151049231 151049231 C T SNP NUB1 ENST00000470316 human ensembl 69_37n +1 known missense c.397 p.P133S 0.000 NULL NULL - no_errors NUB1 HGNC ENSG00000013374 78 0 0.00 45 6 11.76 - - - OBSCN 0 genome.wustl.edu 37 1 228496062 228496062 + Silent SNP C C T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 1 228496062 228496062 C T SNP OBSCN ENST00000422127 human ensembl 69_37n +1 known silent c.12717 p.S4239 0.996 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 66 0 0.00 72 9 11.11 - - - ODZ1 0 genome.wustl.edu 37 X 123518527 123518527 + Missense_Mutation SNP C C T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed X 123518527 123518527 C T SNP ODZ1 ENST00000422452 human ensembl 69_37n -1 known missense c.6254 p.G2085E 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD - no_errors ODZ1 HGNC ENSG00000009694 86 0 0.00 74 14 15.91 - - - ODZ1 0 genome.wustl.edu 37 X 123839049 123839049 + Missense_Mutation SNP T T G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed X 123839049 123839049 T G SNP ODZ1 ENST00000422452 human ensembl 69_37n -1 known missense c.829 p.S277R 1.000 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD - no_errors ODZ1 HGNC ENSG00000009694 20 0 0.00 18 6 25.00 - - - OR11H4 0 genome.wustl.edu 37 14 20711290 20711290 + Missense_Mutation SNP T T C TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 14 20711290 20711290 T C SNP OR11H4 ENST00000315409 human ensembl 69_37n +1 known missense c.340 p.F114L 1.000 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR11H4 HGNC ENSG00000176198 63 0 0.00 56 7 11.11 - - - P2RY2 0 genome.wustl.edu 37 11 72946005 72946005 + Silent SNP C C G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 11 72946005 72946005 C G SNP P2RY2 ENST00000311131 human ensembl 69_37n +1 known silent c.801 p.L267 1.000 pfam_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_P2U_purnocptor,prints_P2_purnocptor,prints_7TM_GPCR_Rhodpsn,prints_P2Y4_purnocptor,pfscan_GPCR_Rhodpsn_supfam - no_errors P2RY2 HGNC ENSG00000175591 51 0 0.00 24 13 35.14 - - - PDXDC2P 0 genome.wustl.edu 37 16 70065818 70065818 + RNA SNP T T G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 16 70065818 70065818 T G SNP PDXDC2P ENST00000529089 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors PDXDC2P HGNC ENSG00000196696 100 0 0.00 50 7 12.28 - - - PDXDC2P 0 genome.wustl.edu 37 16 70065819 70065819 + RNA SNP C C A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 16 70065819 70065819 C A SNP PDXDC2P ENST00000529089 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors PDXDC2P HGNC ENSG00000196696 100 0 0.00 49 6 10.71 - - - PEAR1 0 genome.wustl.edu 37 1 156883526 156883526 + Missense_Mutation SNP A A G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 1 156883526 156883526 A G SNP PEAR1 ENST00000292357 human ensembl 69_37n +1 known missense c.2687 p.N896S 0.004 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors PEAR1 HGNC ENSG00000187800 42 0 0.00 43 10 18.87 - - - PIK3R5 0 genome.wustl.edu 37 17 8794119 8794119 + Missense_Mutation SNP A A G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 17 8794119 8794119 A G SNP PIK3R5 ENST00000447110 human ensembl 69_37n -1 known missense c.593 p.L198P 1.000 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R5 HGNC ENSG00000141506 59 0 0.00 22 14 38.89 - - - PIWIL3 0 genome.wustl.edu 37 22 25131764 25131764 + Silent SNP G G A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 22 25131764 25131764 G A SNP PIWIL3 ENST00000332271 human ensembl 69_37n -1 known silent c.1545 p.S515 0.000 superfamily_RNaseH-like_dom pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL3 HGNC ENSG00000184571 70 0 0.00 47 47 50.00 - - - PKD1L1 0 genome.wustl.edu 37 7 47835657 47835657 + Missense_Mutation SNP C C A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 7 47835657 47835657 C A SNP PKD1L1 ENST00000289672 human ensembl 69_37n -1 known missense c.8285 p.W2762L 0.061 NULL pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 52 0 0.00 43 5 10.42 - - - PLEKHB2 0 genome.wustl.edu 37 2 131890565 131890565 + Splice_Site SNP G G T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 2 131890565 131890565 G T SNP PLEKHB2 ENST00000303908 human ensembl 69_37n +1 known splice_site c.423+1 e5+1 1.000 - - - no_errors PLEKHB2 HGNC ENSG00000115762 48 0 0.00 35 4 10.26 - - - PNPLA1 0 genome.wustl.edu 37 6 36259244 36259244 + Missense_Mutation SNP G G C TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 6 36259244 36259244 G C SNP PNPLA1 ENST00000457797 human ensembl 69_37n +1 known missense c.353 p.G118A 0.985 superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA1 HGNC ENSG00000180316 48 0 0.00 44 13 22.81 - - - PNPLA4 0 genome.wustl.edu 37 X 7890132 7890132 + Missense_Mutation SNP T T C TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed X 7890132 7890132 T C SNP PNPLA4 ENST00000381042 human ensembl 69_37n -1 known missense c.188 p.N63S 0.001 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA4 HGNC ENSG00000006757 59 0 0.00 26 7 21.21 - - - PNPLA7 0 genome.wustl.edu 37 9 140417223 140417223 + Silent SNP T T A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 9 140417223 140417223 T A SNP PNPLA7 ENST00000406427 human ensembl 69_37n -1 known silent c.834 p.G278 0.992 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 14 0 0.00 7 10 58.82 - - - POLE 0 genome.wustl.edu 37 12 133240731 133240731 + Silent SNP C C T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 12 133240731 133240731 C T SNP POLE ENST00000455752 human ensembl 69_37n -1 known silent c.2598 p.R866 1.000 pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 38 0 0.00 6 15 71.43 - - - PPFIA1 0 genome.wustl.edu 37 11 70229211 70229211 + Missense_Mutation SNP A A G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 11 70229211 70229211 A G SNP PPFIA1 ENST00000528853 human ensembl 69_37n +1 putative missense c.221 p.Y74C 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PPFIA1 HGNC ENSG00000131626 26 0 0.00 33 4 10.81 - - - PSD 0 genome.wustl.edu 37 10 104163668 104163668 + Missense_Mutation SNP C C A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 10 104163668 104163668 C A SNP PSD ENST00000020673 human ensembl 69_37n -1 known missense c.2775 p.Q925H 0.000 NULL pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 83 0 0.00 45 8 15.09 - - - PSD2 0 genome.wustl.edu 37 5 139193041 139193041 + Silent SNP C C T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 5 139193041 139193041 C T SNP PSD2 ENST00000274710 human ensembl 69_37n +1 known silent c.519 p.C173 0.704 NULL pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_Pleckstrin_homology,pfscan_Sec7 - no_errors PSD2 HGNC ENSG00000146005 43 0 0.00 35 6 14.63 - - - QSOX2 0 genome.wustl.edu 37 9 139100961 139100961 + Silent SNP C C A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 9 139100961 139100961 C A SNP QSOX2 ENST00000358701 human ensembl 69_37n -1 known silent c.1710 p.T570 0.000 NULL pfam_Evr1_Alr,pfam_Thioredoxin_domain,superfamily_Evr1_Alr,superfamily_Thioredoxin-like_fold - no_errors QSOX2 HGNC ENSG00000165661 67 0 0.00 15 28 65.12 - - - RAD51AP2 0 genome.wustl.edu 37 2 17698740 17698740 + Nonsense_Mutation SNP T T A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 2 17698740 17698740 T A SNP RAD51AP2 ENST00000399080 human ensembl 69_37n -1 known nonsense c.943 p.K315* 0.946 NULL NULL - no_errors RAD51AP2 HGNC ENSG00000214842 81 0 0.00 98 12 10.91 - - - RDH11 0 genome.wustl.edu 37 14 68162412 68162412 + Missense_Mutation SNP C C G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 14 68162412 68162412 C G SNP RDH11 ENST00000381346 human ensembl 69_37n -1 known missense c.9 p.E3D 0.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH11 HGNC ENSG00000072042 26 0 0.00 13 5 27.78 - - - RIF1 0 genome.wustl.edu 37 2 152266473 152266473 + Missense_Mutation SNP T T C TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 2 152266473 152266473 T C SNP RIF1 ENST00000414861 human ensembl 69_37n +1 novel missense c.4 p.W2R 0.000 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region RIF1 HGNC ENSG00000080345 41 0 0.00 52 6 10.34 - - - RNFT2 0 genome.wustl.edu 37 12 117289613 117289613 + Missense_Mutation SNP G G C TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 12 117289613 117289613 G C SNP RNFT2 ENST00000319176 human ensembl 69_37n +1 putative missense c.830 p.G277A 0.000 NULL NULL - no_errors RNFT2 HGNC ENSG00000135119 88 0 0.00 46 8 14.81 - - - SEMA3D 0 genome.wustl.edu 37 7 84644491 84644491 + Silent SNP G G C TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 7 84644491 84644491 G C SNP SEMA3D ENST00000284136 human ensembl 69_37n -1 known silent c.1587 p.L529 1.000 superfamily_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Ig_V-set,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3D HGNC ENSG00000153993 42 0 0.00 30 7 18.92 - - - SERPINH1 0 genome.wustl.edu 37 11 75280169 75280169 + Missense_Mutation SNP G G A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 11 75280169 75280169 G A SNP SERPINH1 ENST00000358171 human ensembl 69_37n +1 known missense c.907 p.A303T 1.000 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINH1 HGNC ENSG00000149257 46 0 0.00 29 4 12.12 - - - SESTD1 0 genome.wustl.edu 37 2 180014054 180014054 + Missense_Mutation SNP C C T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 2 180014054 180014054 C T SNP SESTD1 ENST00000428443 human ensembl 69_37n -1 known missense c.551 p.S184N 1.000 NULL superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors SESTD1 HGNC ENSG00000187231 79 0 0.00 76 34 30.91 - - - SHBG 0 genome.wustl.edu 37 17 7534956 7534956 + Missense_Mutation SNP A A T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 17 7534956 7534956 A T SNP SHBG ENST00000380450 human ensembl 69_37n +1 known missense c.605 p.K202I 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G - no_errors SHBG HGNC ENSG00000129214 41 0 0.00 28 7 19.44 - - - SLC13A1 0 genome.wustl.edu 37 7 122787318 122787318 + Missense_Mutation SNP G G A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 7 122787318 122787318 G A SNP SLC13A1 ENST00000194130 human ensembl 69_37n -1 known missense c.707 p.T236I 1.000 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A1 HGNC ENSG00000081800 116 0 0.00 41 16 28.07 - - - SLC26A9 0 genome.wustl.edu 37 1 205895727 205895727 + Missense_Mutation SNP A A G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 1 205895727 205895727 A G SNP SLC26A9 ENST00000340781 human ensembl 69_37n -1 known missense c.1325 p.L442P 1.000 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A9 HGNC ENSG00000174502 83 0 0.00 38 26 40.62 - - - SLC28A2 0 genome.wustl.edu 37 15 45564673 45564673 + RNA SNP T T C TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 15 45564673 45564673 T C SNP SLC28A2 ENST00000560767 human ensembl 69_37n +1 known rna NULL NULL 0.022 - - - no_errors SLC28A2 HGNC ENSG00000137860 17 0 0.00 16 7 30.43 - - - SLC41A1 0 genome.wustl.edu 37 1 205760830 205760830 + Missense_Mutation SNP T T G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 1 205760830 205760830 T G SNP SLC41A1 ENST00000367137 human ensembl 69_37n -1 known missense c.1373 p.Y458S 1.000 pfam_MgtE_Mg_transptr_membr pfam_MgtE_Mg_transptr_membr - no_errors SLC41A1 HGNC ENSG00000133065 113 1 0.88 56 29 34.12 - - - SLC4A3 0 genome.wustl.edu 37 2 220495072 220495072 + Missense_Mutation SNP A A G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 2 220495072 220495072 A G SNP SLC4A3 ENST00000273063 human ensembl 69_37n +1 known missense c.890 p.K297R 1.000 NULL pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 22 0 0.00 9 3 25.00 - - - SLC5A5 0 genome.wustl.edu 37 19 17983256 17983256 + Missense_Mutation SNP G G C TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 19 17983256 17983256 G C SNP SLC5A5 ENST00000222248 human ensembl 69_37n +1 known missense c.128 p.S43T 0.964 pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A5 HGNC ENSG00000105641 101 0 0.00 77 9 10.47 - - - SNRNP200 0 genome.wustl.edu 37 2 96952447 96952447 + Missense_Mutation SNP C C T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 2 96952447 96952447 C T SNP SNRNP200 ENST00000323853 human ensembl 69_37n -1 known missense c.3808 p.V1270M 1.000 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 49 0 0.00 21 11 34.38 - - - SNX8 0 genome.wustl.edu 37 7 2294716 2294716 + Missense_Mutation SNP G G A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 7 2294716 2294716 G A SNP SNX8 ENST00000222990 human ensembl 69_37n -1 known missense c.1373 p.P458L 0.126 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX8 HGNC ENSG00000106266 133 0 0.00 53 7 11.67 - - - SPON1 0 genome.wustl.edu 37 11 14280846 14280846 + RNA SNP T T A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 11 14280846 14280846 T A SNP SPON1 ENST00000310358 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors SPON1 HGNC ENSG00000152268 50 0 0.00 23 9 28.12 - - - SPRED1 0 genome.wustl.edu 37 15 38632020 38632020 + Missense_Mutation SNP G G C TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 15 38632020 38632020 G C SNP SPRED1 ENST00000299084 human ensembl 69_37n +1 known missense c.506 p.R169T 1.000 NULL pfam_Sprouty,pfam_EVH1,smart_EVH1,pfscan_EVH1 - no_errors SPRED1 HGNC ENSG00000166068 55 0 0.00 18 7 28.00 - - - TBX22 0 genome.wustl.edu 37 X 79279600 79279600 + Nonsense_Mutation SNP T T A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed X 79279600 79279600 T A SNP TBX22 ENST00000373294 human ensembl 69_37n +1 known nonsense c.395 p.L132* 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX22 HGNC ENSG00000122145 106 0 0.00 56 10 15.15 - - - TCF20 0 genome.wustl.edu 37 22 42609249 42609249 + Missense_Mutation SNP G G C TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 22 42609249 42609249 G C SNP TCF20 ENST00000359486 human ensembl 69_37n -1 known missense c.2063 p.A688G 0.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 50 0 0.00 53 11 17.19 - - - TCP11L2 0 genome.wustl.edu 37 12 106734742 106734742 + Silent SNP T T A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 12 106734742 106734742 T A SNP TCP11L2 ENST00000299045 human ensembl 69_37n +1 known silent c.1281 p.I427 0.978 pfam_Tcp11 pfam_Tcp11 - no_errors TCP11L2 HGNC ENSG00000166046 39 0 0.00 29 20 40.82 - - - THNSL1 0 genome.wustl.edu 37 10 25314083 25314083 + Missense_Mutation SNP C C T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 10 25314083 25314083 C T SNP THNSL1 ENST00000376356 human ensembl 69_37n +1 known missense c.1931 p.A644V 1.000 pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu,tigrfam_Thr_synthase pfam_Shikimate_kinase,pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu,prints_Shikimate_kinase,tigrfam_Thr_synthase - no_errors THNSL1 HGNC ENSG00000185875 46 0 0.00 30 24 44.44 - - - THSD7A 0 genome.wustl.edu 37 7 11486990 11486990 + Silent SNP T T G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 7 11486990 11486990 T G SNP THSD7A ENST00000423059 human ensembl 69_37n -1 known silent c.2667 p.A889 0.804 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 55 0 0.00 25 8 24.24 - - - THSD7B 0 genome.wustl.edu 37 2 137988746 137988746 + Missense_Mutation SNP A A G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 2 137988746 137988746 A G SNP THSD7B ENST00000272643 human ensembl 69_37n +1 known missense c.1856 p.N619S 0.989 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 50 0 0.00 40 5 11.11 - - - TJP3 0 genome.wustl.edu 37 19 3735625 3735625 + Missense_Mutation SNP G G A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 19 3735625 3735625 G A SNP TJP3 ENST00000262968 human ensembl 69_37n +1 known missense c.1147 p.E383K 0.901 NULL pfam_PDZ,pfam_SH3_2,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS3,prints_ZonOcculdens - no_errors TJP3 HGNC ENSG00000105289 51 0 0.00 22 13 37.14 - - - TMEM38B 0 genome.wustl.edu 37 9 108536283 108536283 + Silent SNP C C T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 9 108536283 108536283 C T SNP TMEM38B ENST00000374692 human ensembl 69_37n +1 known silent c.798 p.G266 0.020 NULL pfam_TRIC_channel - no_errors TMEM38B HGNC ENSG00000095209 50 0 0.00 15 20 57.14 - - - TNRC6A 0 genome.wustl.edu 37 16 24801526 24801526 + Silent SNP A A C TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 16 24801526 24801526 A C SNP TNRC6A ENST00000395799 human ensembl 69_37n +1 known silent c.1563 p.T521 0.272 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 41 0 0.00 12 13 52.00 - - - TOP3B 0 genome.wustl.edu 37 22 22313983 22313983 + Missense_Mutation SNP G G T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 22 22313983 22313983 G T SNP TOP3B ENST00000357179 human ensembl 69_37n -1 known missense c.1780 p.H594N 1.000 superfamily_Topo_IA_core_domain pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3B HGNC ENSG00000100038 42 0 0.00 36 4 10.00 - - - TP53 0 genome.wustl.edu 37 17 7578403 7578403 + Missense_Mutation SNP C C T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 17 7578403 7578403 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.527 p.C176Y 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 27 0 0.00 7 14 66.67 - - - TRAJ50 0 genome.wustl.edu 37 14 22957621 22957621 + Missense_Mutation SNP A A C TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 14 22957621 22957621 A C SNP TRAJ50 ENST00000390487 human ensembl 69_37n +1 known missense c.41 p.Q14P 0.153 NULL NULL - no_start_codon:pseudogene:no_stop_codon TRAJ50 HGNC ENSG00000211839 66 0 0.00 29 13 30.95 - - - TRIM2 0 genome.wustl.edu 37 4 154178697 154178697 + RNA SNP A A G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 4 154178697 154178697 A G SNP TRIM2 ENST00000502281 human ensembl 69_37n +1 putative rna NULL NULL 0.156 - - - no_errors TRIM2 HGNC ENSG00000109654 75 0 0.00 29 6 17.14 - - - TRIM41 0 genome.wustl.edu 37 5 180657808 180657808 + Missense_Mutation SNP C C G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 5 180657808 180657808 C G SNP TRIM41 ENST00000315073 human ensembl 69_37n +1 known missense c.878 p.A293G 1.000 pfam_DUF3631 pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_DUF3631,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM41 HGNC ENSG00000146063 84 0 0.00 20 27 56.25 - - - TYMP 0 genome.wustl.edu 37 22 50967689 50967689 + Missense_Mutation SNP G G C TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 22 50967689 50967689 G C SNP TYMP ENST00000252029 human ensembl 69_37n -1 known missense c.293 p.S98W 0.966 pfam_Glycosyl_Trfase_fam3_N_dom,superfamily_Glycosyl_Trfase_fam3_N_dom,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk pfam_Glycosyl_Trfase_fam3,pfam_Glycosyl_Trfase_fam3_N_dom,pfam_PYNP_C,superfamily_Glycosyl_Trfase_fam3,superfamily_PYNP_C,superfamily_Glycosyl_Trfase_fam3_N_dom,smart_PYNP_C,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk - no_errors TYMP HGNC ENSG00000025708 60 0 0.00 74 16 17.78 - - - UGT1A7 0 genome.wustl.edu 37 2 234590970 234590970 + Missense_Mutation SNP T T G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 2 234590970 234590970 T G SNP UGT1A7 ENST00000373426 human ensembl 69_37n +1 known missense c.387 p.N129K 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A7 HGNC ENSG00000244122 56 0 0.00 42 5 10.64 - - - UGT1A7 0 genome.wustl.edu 37 2 234590974 234590974 + Silent SNP C C A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 2 234590974 234590974 C A SNP UGT1A7 ENST00000373426 human ensembl 69_37n +1 known silent c.391 p.R131 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A7 HGNC ENSG00000244122 56 0 0.00 40 5 11.11 - - - UGT1A7 0 genome.wustl.edu 37 2 234590975 234590975 + Missense_Mutation SNP G G A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 2 234590975 234590975 G A SNP UGT1A7 ENST00000373426 human ensembl 69_37n +1 known missense c.392 p.R131Q 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A7 HGNC ENSG00000244122 56 0 0.00 40 5 11.11 - - - VPS39 0 genome.wustl.edu 37 15 42459590 42459590 + Splice_Site SNP A A G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 15 42459590 42459590 A G SNP VPS39 ENST00000348544 human ensembl 69_37n -1 known splice_site c.1410+2 e14+2 1.000 - - - no_errors VPS39 HGNC ENSG00000166887 55 0 0 11 11 50 - - - WDR66 0 genome.wustl.edu 37 12 122437845 122437845 + Missense_Mutation SNP C C T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 12 122437845 122437845 C T SNP WDR66 ENST00000288912 human ensembl 69_37n +1 known missense c.3230 p.T1077I 0.124 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 29 0 0.00 15 8 34.78 - - - XYLB 0 genome.wustl.edu 37 3 38390113 38390113 + Missense_Mutation SNP C C A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 3 38390113 38390113 C A SNP XYLB ENST00000207870 human ensembl 69_37n +1 known missense c.130 p.P44T 1.000 pfam_Carb_kinase_FGGY_N pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N - no_errors XYLB HGNC ENSG00000093217 127 0 0.00 63 20 24.10 - - - ZFYVE27 0 genome.wustl.edu 37 10 99509969 99509969 + RNA SNP T T C TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 10 99509969 99509969 T C SNP ZFYVE27 ENST00000481956 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors ZFYVE27 HGNC ENSG00000155256 47 0 0.00 32 4 11.11 - - - ZMPSTE24 0 genome.wustl.edu 37 1 40723983 40723983 + Missense_Mutation SNP C C G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 1 40723983 40723983 C G SNP ZMPSTE24 ENST00000372759 human ensembl 69_37n +1 known missense c.40 p.P14A 1.000 NULL pfam_Peptidase_M48 - no_errors ZMPSTE24 HGNC ENSG00000084073 33 0 0.00 38 10 20.83 - - - ZNF169 0 genome.wustl.edu 37 9 97062923 97062923 + Silent SNP C C G TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 9 97062923 97062923 C G SNP ZNF169 ENST00000395395 human ensembl 69_37n +1 known silent c.1083 p.L361 0.042 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 ZNF169 HGNC ENSG00000175787 51 0 0.00 23 7 23.33 - - - ZNF311 0 genome.wustl.edu 37 6 28963898 28963898 + Missense_Mutation SNP C C T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 6 28963898 28963898 C T SNP ZNF311 ENST00000377179 human ensembl 69_37n -1 known missense c.881 p.R294Q 0.864 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 ZNF311 HGNC ENSG00000197935 90 0 0.00 65 15 18.75 - - - ZNF597 0 genome.wustl.edu 37 16 3486435 3486435 + Missense_Mutation SNP T T A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 16 3486435 3486435 T A SNP ZNF597 ENST00000301744 human ensembl 69_37n -1 known missense c.1264 p.N422Y 0.010 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 - no_errors ZNF597 HGNC ENSG00000167981 62 0 0.00 56 9 13.85 - - - ZNF93 0 genome.wustl.edu 37 19 20044531 20044531 + Missense_Mutation SNP C C T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 19 20044531 20044531 C T SNP ZNF93 ENST00000343769 human ensembl 69_37n +1 known missense c.767 p.P256L 0.945 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 ZNF93 HGNC ENSG00000184635 52 0 0.00 16 15 48.39 - - - ZZEF1 0 genome.wustl.edu 37 17 4046260 4046260 + RNA SNP C C T TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5dbf3203-ce73-41e4-bf9a-32fc856f73f5 e0d54a00-8d0b-4a09-bf35-75183818d3ed 17 4046260 4046260 C T SNP ZZEF1 ENST00000574474 human ensembl 69_37n -1 known rna NULL NULL 0.826 - - - no_errors ZZEF1 HGNC ENSG00000074755 10 0 0.00 1 5 83.33 - - -