Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ADCY10 55811 genome.wustl.edu 37 1 167779063 167779063 + Nonsense_Mutation SNP G G C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 167779063 167779063 G C SNP ADCY10 ENST00000367851 human ensembl 70_37 -1 known nonsense c.4685 p.S1562* 0.981 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC AIM1 202 genome.wustl.edu 37 6 106967421 106967421 + Missense_Mutation SNP C C G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 6 106967421 106967421 C G SNP AIM1 ENST00000369066 human ensembl 70_37 +1 known missense c.1114 p.Q372E 0.073 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1 HGNC AK5 26289 genome.wustl.edu 37 1 77952004 77952004 + Missense_Mutation SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 77952004 77952004 G T SNP AK5 ENST00000354567 human ensembl 70_37 +1 known missense c.1114 p.D372Y 1.000 NULL pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1 - no_errors AK5 HGNC AKAP13 11214 genome.wustl.edu 37 15 86123894 86123894 + Silent SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 15 86123894 86123894 C T SNP AKAP13 ENST00000361243 human ensembl 70_37 +1 known silent c.2595 p.L865 0.001 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC AK9 221264 genome.wustl.edu 37 6 109935385 109935385 + Splice_Site SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 6 109935385 109935385 C T SNP AKD1 ENST00000424296 human ensembl 70_37 -1 known splice_site c.1609+1 e14+1 0.115 - - - no_errors AKD1 HGNC AKR1C2 1646 genome.wustl.edu 37 10 5040883 5040883 + Missense_Mutation SNP G G C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 10 5040883 5040883 G C SNP AKR1C2 ENST00000380753 human ensembl 70_37 -1 known missense c.504 p.F168L 0.988 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C2 HGNC AKT3 10000 genome.wustl.edu 37 1 243777040 243777040 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 243777040 243777040 G A SNP AKT3 ENST00000263826 human ensembl 70_37 -1 known missense c.629 p.S210F 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom - no_errors AKT3 HGNC APCS 325 genome.wustl.edu 37 1 159558217 159558217 + Missense_Mutation SNP A A G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 159558217 159558217 A G SNP APCS ENST00000255040 human ensembl 70_37 +1 known missense c.391 p.T131A 0.993 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors APCS HGNC APOB 338 genome.wustl.edu 37 2 21246399 21246399 + Missense_Mutation SNP T T C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 2 21246399 21246399 T C SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.2602 p.N868D 0.000 pfam_Vitellinogen_open_b-sht,superfamily_Lipid_transp_b-sht_shell pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ARHGEF7 8874 genome.wustl.edu 37 13 111870159 111870159 + Nonsense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 13 111870159 111870159 G A SNP ARHGEF7 ENST00000375741 human ensembl 70_37 +1 known nonsense c.665 p.W222* 1.000 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain - no_errors ARHGEF7 HGNC ATF7IP 55729 genome.wustl.edu 37 12 14577801 14577802 + Frame_Shift_Ins INS - - A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 12 14577801 14577802 - A INS ATF7IP ENST00000261168 human ensembl 70_37 +1 known frame_shift_ins c.952_953 p.N320fs 0.416:0.322 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ATR 545 genome.wustl.edu 37 3 142272219 142272219 + Silent SNP T T C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 3 142272219 142272219 T C SNP ATR ENST00000350721 human ensembl 70_37 -1 known silent c.2655 p.V885 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC BAZ1B 9031 genome.wustl.edu 37 7 72861622 72861623 + In_Frame_Ins INS - - TCC TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 7 72861622 72861623 - TCC INS BAZ1B ENST00000339594 human ensembl 70_37 -1 known in_frame_ins c.3816_3815 p.1274in_frame_insE 0.614:0.989 superfamily_ARM-type_fold pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC BET1 10282 genome.wustl.edu 37 7 93605249 93605249 + RNA SNP C C A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 7 93605249 93605249 C A SNP BET1 ENST00000471446 human ensembl 70_37 -1 known rna NULL NULL 0.100 - - - no_errors BET1 HGNC C12orf42 374470 genome.wustl.edu 37 12 103696329 103696329 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 12 103696329 103696329 C T SNP C12orf42 ENST00000378113 human ensembl 70_37 -1 known missense c.640 p.A214T 0.000 NULL NULL - no_errors C12orf42 HGNC C14orf39 317761 genome.wustl.edu 37 14 60945082 60945082 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 14 60945082 60945082 G A SNP C14orf39 ENST00000321731 human ensembl 70_37 -1 known missense c.259 p.R87C 1.000 NULL NULL - no_errors C14orf39 HGNC CACHD1 57685 genome.wustl.edu 37 1 65117933 65117933 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 65117933 65117933 G A SNP CACHD1 ENST00000371073 human ensembl 70_37 +1 known missense c.1480 p.E494K 1.000 pfam_Cache_domain pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC CACNA1A 773 genome.wustl.edu 37 19 13482538 13482538 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 13482538 13482538 C T SNP CACNA1A ENST00000360228 human ensembl 70_37 -1 known missense c.595 p.V199M 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC CACNA1C-AS1 100652846 genome.wustl.edu 37 12 2786778 2786778 + RNA SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 12 2786778 2786778 G A SNP CACNA1C-AS1 ENST00000501371 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CACNA1C-AS1 HGNC CALCOCO1 57658 genome.wustl.edu 37 12 54115830 54115830 + Silent SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 12 54115830 54115830 C T SNP CALCOCO1 ENST00000550804 human ensembl 70_37 -1 known silent c.588 p.T196 0.000 pfam_CoCoA pfam_CoCoA - no_errors CALCOCO1 HGNC CAMKMT 79823 genome.wustl.edu 37 2 44981216 44981216 + Missense_Mutation SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 2 44981216 44981216 G T SNP CAMKMT ENST00000378494 human ensembl 70_37 +1 known missense c.721 p.A241S 1.000 pfam_Nicotinamide_N-MeTfrase-like pfam_Nicotinamide_N-MeTfrase-like - no_errors CAMKMT HGNC CAMSAP3 57662 genome.wustl.edu 37 19 7670187 7670187 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 7670187 7670187 C T SNP CAMSAP3 ENST00000446248 human ensembl 70_37 +1 known missense c.224 p.T75I 0.968 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC CASKIN2 57513 genome.wustl.edu 37 17 73501032 73501032 + Silent SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 17 73501032 73501032 G A SNP CASKIN2 ENST00000321617 human ensembl 70_37 -1 known silent c.1053 p.I351 0.000 superfamily_SH3_domain pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN2 HGNC CASP8 841 genome.wustl.edu 37 2 202136248 202136248 + Silent SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 2 202136248 202136248 C T SNP CASP8 ENST00000358485 human ensembl 70_37 +1 known silent c.492 p.L164 0.984 pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP8 HGNC CASP8 841 genome.wustl.edu 37 2 202136259 202136259 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 2 202136259 202136259 C T SNP CASP8 ENST00000358485 human ensembl 70_37 +1 known missense c.503 p.S168L 0.992 pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP8 HGNC CATSPERG 57828 genome.wustl.edu 37 19 38855535 38855535 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 38855535 38855535 C T SNP CATSPERG ENST00000409235 human ensembl 70_37 +1 known missense c.2480 p.T827M 0.004 NULL NULL - no_errors CATSPERG HGNC ACKR2 1238 genome.wustl.edu 37 3 42906932 42906932 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 3 42906932 42906932 C T SNP CCBP2 ENST00000273145 human ensembl 70_37 +1 known missense c.938 p.A313V 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_ATII_rcpt,prints_Chemokine_CXCR4 - no_errors CCBP2 HGNC CD164 8763 genome.wustl.edu 37 6 109703435 109703435 + Silent SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 6 109703435 109703435 G A SNP CD164 ENST00000310786 human ensembl 70_37 -1 known silent c.147 p.S49 0.000 pfam_CD164_MGC24 pfam_CD164_MGC24,prints_CD164_MGC24 - no_errors CD164 HGNC CD207 50489 genome.wustl.edu 37 2 71058944 71058944 + Silent SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 2 71058944 71058944 G A SNP CD207 ENST00000410009 human ensembl 70_37 -1 known silent c.724 p.L242 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CD207 HGNC CEACAMP10 1098 genome.wustl.edu 37 19 43719419 43719419 + RNA SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 43719419 43719419 G A SNP CEACAMP10 ENST00000489959 human ensembl 70_37 -1 known rna NULL NULL 0.048 - - - no_errors CEACAMP10 HGNC CELF3 11189 genome.wustl.edu 37 1 151681484 151681484 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 151681484 151681484 C T SNP CELF3 ENST00000290583 human ensembl 70_37 -1 known missense c.476 p.R159Q 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF3 HGNC CFHR1 3078 genome.wustl.edu 37 1 196801126 196801126 + Missense_Mutation SNP A A C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 196801126 196801126 A C SNP CFHR1 ENST00000320493 human ensembl 70_37 +1 known missense c.990 p.R330S 0.000 superfamily_Complement_control_module pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR1 HGNC CGB7 94027 genome.wustl.edu 37 19 49558222 49558222 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 49558222 49558222 G A SNP CGB7 ENST00000377280 human ensembl 70_37 -1 known missense c.59 p.A20V 0.880 NULL pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors CGB7 HGNC CIITA 4261 genome.wustl.edu 37 16 11010239 11010239 + Silent SNP T T C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 16 11010239 11010239 T C SNP CIITA ENST00000324288 human ensembl 70_37 +1 known silent c.2985 p.S995 0.841 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC CLEC5A 23601 genome.wustl.edu 37 7 141635692 141635692 + Silent SNP T T C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 7 141635692 141635692 T C SNP CLEC5A ENST00000546910 human ensembl 70_37 -1 known silent c.267 p.E89 0.069 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC5A HGNC COL9A1 1297 genome.wustl.edu 37 6 70978539 70978539 + Missense_Mutation SNP G G C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 6 70978539 70978539 G C SNP COL9A1 ENST00000357250 human ensembl 70_37 -1 known missense c.1255 p.R419G 1.000 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL9A1 HGNC CPO 130749 genome.wustl.edu 37 2 207804333 207804333 + Silent SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 2 207804333 207804333 C T SNP CPO ENST00000272852 human ensembl 70_37 +1 known silent c.10 p.L4 0.011 NULL pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPO HGNC CR2 1380 genome.wustl.edu 37 1 207648498 207648498 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 207648498 207648498 C T SNP CR2 ENST00000367057 human ensembl 70_37 +1 known missense c.2653 p.R885C 0.120 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC CYP4F22 126410 genome.wustl.edu 37 19 15648399 15648399 + Silent SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 15648399 15648399 C T SNP CYP4F22 ENST00000269703 human ensembl 70_37 +1 known silent c.475 p.L159 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F22 HGNC DDX26B 203522 genome.wustl.edu 37 X 134711238 134711238 + Missense_Mutation SNP A A T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 X 134711238 134711238 A T SNP DDX26B ENST00000370752 human ensembl 70_37 +1 known missense c.1894 p.R632W 1.000 NULL pfscan_VWF_A - no_errors DDX26B HGNC DHRSX 207063 genome.wustl.edu 37 X 2161134 2161134 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 X 2161134 2161134 G A SNP DHRSX ENST00000334651 human ensembl 70_37 -1 known missense c.734 p.T245M 1.000 prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH - no_errors DHRSX HGNC DISP1 84976 genome.wustl.edu 37 1 223116463 223116463 + Missense_Mutation SNP T T C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 223116463 223116463 T C SNP DISP1 ENST00000284476 human ensembl 70_37 +1 known missense c.298 p.C100R 1.000 NULL pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors DISP1 HGNC DNAH2 146754 genome.wustl.edu 37 17 7722330 7722330 + Missense_Mutation SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 17 7722330 7722330 G T SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known missense c.10764 p.E3588D 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC DPF3 8110 genome.wustl.edu 37 14 73140900 73140900 + RNA SNP A A G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 14 73140900 73140900 A G SNP DPF3 ENST00000554594 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors DPF3 HGNC EFNA5 1946 genome.wustl.edu 37 5 106717040 106717040 + Silent SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 5 106717040 106717040 G A SNP EFNA5 ENST00000333274 human ensembl 70_37 -1 known silent c.603 p.G201 0.704 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNA5 HGNC EGFLAM 133584 genome.wustl.edu 37 5 38407217 38407217 + Silent SNP C C A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 5 38407217 38407217 C A SNP EGFLAM ENST00000354891 human ensembl 70_37 +1 known silent c.1116 p.T372 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC EIF4H 7458 genome.wustl.edu 37 7 73609171 73609171 + Silent SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 7 73609171 73609171 C T SNP EIF4H ENST00000265753 human ensembl 70_37 +1 known silent c.570 p.L190 0.994 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors EIF4H HGNC ELFN1 392617 genome.wustl.edu 37 7 1785391 1785391 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 7 1785391 1785391 G A SNP ELFN1 ENST00000424383 human ensembl 70_37 +1 known missense c.1159 p.G387R 0.002 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors ELFN1 HGNC ENPP3 5169 genome.wustl.edu 37 6 132014695 132014695 + Missense_Mutation SNP T T C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 6 132014695 132014695 T C SNP ENPP3 ENST00000357639 human ensembl 70_37 +1 known missense c.1343 p.L448P 0.998 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom - no_errors ENPP3 HGNC ENSG00000235881 0 genome.wustl.edu 37 2 111469895 111469895 + RNA SNP G G C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 2 111469895 111469895 G C SNP ENSG00000235881 ENST00000414159 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors AC114776.3 Clone_based_vega_gene ENSG00000259660 0 genome.wustl.edu 37 15 102303043 102303043 + RNA SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 15 102303043 102303043 G A SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene EPDR1 54749 genome.wustl.edu 37 7 37989929 37989929 + Silent SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 7 37989929 37989929 G A SNP EPDR1 ENST00000559325 human ensembl 70_37 +1 known silent c.966 p.S322 0.002 pfam_Ependymin,smart_Ependymin,prints_Ependymin pfam_Ependymin,smart_Ependymin,prints_Ependymin - no_errors EPDR1 HGNC EPS15 2060 genome.wustl.edu 37 1 51875362 51875362 + Missense_Mutation SNP G G C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 51875362 51875362 G C SNP EPS15 ENST00000371733 human ensembl 70_37 -1 known missense c.1120 p.Q374E 1.000 NULL smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15 HGNC F8 2157 genome.wustl.edu 37 X 154158444 154158444 + Missense_Mutation SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 X 154158444 154158444 G T SNP F8 ENST00000360256 human ensembl 70_37 -1 known missense c.3621 p.H1207Q 0.000 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC FAM131A 131408 genome.wustl.edu 37 3 184059910 184059910 + Missense_Mutation SNP C C G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 3 184059910 184059910 C G SNP FAM131A ENST00000383847 human ensembl 70_37 +1 known missense c.382 p.R128G 1.000 NULL NULL - no_errors FAM131A HGNC FAM150A 389658 genome.wustl.edu 37 8 53447151 53447151 + Silent SNP T T C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 8 53447151 53447151 T C SNP FAM150A ENST00000523939 human ensembl 70_37 -1 novel silent c.335 p.*112 0.001 NULL NULL - no_errors FAM150A HGNC FAM214A 56204 genome.wustl.edu 37 15 52892428 52892428 + Missense_Mutation SNP G G C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 15 52892428 52892428 G C SNP FAM214A ENST00000261844 human ensembl 70_37 -1 known missense c.2545 p.R849G 0.987 NULL NULL - no_errors FAM214A HGNC FAT2 2196 genome.wustl.edu 37 5 150914120 150914120 + Nonsense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 5 150914120 150914120 G A SNP FAT2 ENST00000261800 human ensembl 70_37 -1 known nonsense c.9277 p.R3093* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC FGD3 89846 genome.wustl.edu 37 9 95778055 95778055 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 9 95778055 95778055 C T SNP FGD3 ENST00000337352 human ensembl 70_37 +1 known missense c.1219 p.R407W 0.999 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD3 HGNC FOLH1 2346 genome.wustl.edu 37 11 49221981 49221981 + Missense_Mutation SNP C C G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 11 49221981 49221981 C G SNP FOLH1 ENST00000256999 human ensembl 70_37 -1 known missense c.237 p.Q79H 0.969 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC GAL 51083 genome.wustl.edu 37 11 68453095 68453095 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 11 68453095 68453095 G A SNP GAL ENST00000265643 human ensembl 70_37 +1 known missense c.115 p.A39T 1.000 pfam_Galanin,smart_Galanin_pre,prints_Galanin pfam_GMAP,pfam_Galanin,smart_Galanin_pre,prints_Galanin - no_errors GAL HGNC GLDN 342035 genome.wustl.edu 37 15 51696940 51696940 + Missense_Mutation SNP T T G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 15 51696940 51696940 T G SNP GLDN ENST00000335449 human ensembl 70_37 +1 known missense c.1645 p.L549V 0.000 NULL pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like - no_errors GLDN HGNC GMIP 51291 genome.wustl.edu 37 19 19753385 19753385 + Silent SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 19753385 19753385 G A SNP GMIP ENST00000203556 human ensembl 70_37 -1 known silent c.63 p.I21 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors GMIP HGNC GOT1L1 137362 genome.wustl.edu 37 8 37794817 37794817 + Missense_Mutation SNP T T C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 8 37794817 37794817 T C SNP GOT1L1 ENST00000307599 human ensembl 70_37 -1 known missense c.497 p.D166G 0.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Asp_trans - no_errors GOT1L1 HGNC GPR112 139378 genome.wustl.edu 37 X 135430288 135430288 + Missense_Mutation SNP A A C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 X 135430288 135430288 A C SNP GPR112 ENST00000370652 human ensembl 70_37 +1 known missense c.4423 p.N1475H 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC GPR174 84636 genome.wustl.edu 37 X 78426933 78426933 + Silent SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 X 78426933 78426933 G A SNP GPR174 ENST00000276077 human ensembl 70_37 +1 known silent c.429 p.L143 0.803 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors GPR174 HGNC GPR42 2866 genome.wustl.edu 37 19 35863116 35863116 + Silent SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 35863116 35863116 C T SNP GPR42 ENST00000454971 human ensembl 70_37 +1 known silent c.855 p.A285 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_recept - no_errors GPR42 HGNC GRK5 2869 genome.wustl.edu 37 10 121093341 121093341 + Nonsense_Mutation SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 10 121093341 121093341 G T SNP GRK5 ENST00000369106 human ensembl 70_37 +1 known nonsense c.211 p.E71* 0.002 NULL NULL - no_errors GRK5 HGNC GRM2 2912 genome.wustl.edu 37 3 51746865 51746865 + Missense_Mutation SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 3 51746865 51746865 G T SNP GRM2 ENST00000395052 human ensembl 70_37 +1 known missense c.827 p.R276L 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC GUCY1A2 2977 genome.wustl.edu 37 11 106681012 106681012 + Missense_Mutation SNP T T C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 11 106681012 106681012 T C SNP GUCY1A2 ENST00000282249 human ensembl 70_37 -1 known missense c.1399 p.K467E 1.000 pfam_Haem_no_assoc-bd pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A2 HGNC HEPH 9843 genome.wustl.edu 37 X 65486376 65486376 + Silent SNP T T C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 X 65486376 65486376 T C SNP HEPH ENST00000519389 human ensembl 70_37 +1 known silent c.3501 p.V1167 0.017 NULL pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC HTR7 3363 genome.wustl.edu 37 10 92508968 92508968 + Missense_Mutation SNP A A G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 10 92508968 92508968 A G SNP HTR7 ENST00000336152 human ensembl 70_37 -1 known missense c.923 p.L308P 0.999 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors HTR7 HGNC IGSF9 57549 genome.wustl.edu 37 1 159900133 159900133 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 159900133 159900133 C T SNP IGSF9 ENST00000368094 human ensembl 70_37 -1 known missense c.1910 p.R637Q 0.968 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9 HGNC IMPAD1 54928 genome.wustl.edu 37 8 57905808 57905808 + Missense_Mutation SNP A A C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 8 57905808 57905808 A C SNP IMPAD1 ENST00000262644 human ensembl 70_37 -1 known missense c.337 p.S113A 1.000 pfam_Inositol_monophosphatase pfam_Inositol_monophosphatase - no_errors IMPAD1 HGNC IQGAP1 8826 genome.wustl.edu 37 15 91043332 91043332 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 15 91043332 91043332 G A SNP IQGAP1 ENST00000268182 human ensembl 70_37 +1 known missense c.4966 p.G1656R 1.000 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP1 HGNC KCNH2 3757 genome.wustl.edu 37 7 150648917 150648917 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 7 150648917 150648917 C T SNP KCNH2 ENST00000262186 human ensembl 70_37 -1 known missense c.1564 p.G522R 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH2 HGNC KIAA0895 23366 genome.wustl.edu 37 7 36406537 36406537 + Missense_Mutation SNP T T C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 7 36406537 36406537 T C SNP KIAA0895 ENST00000317020 human ensembl 70_37 -1 known missense c.13 p.I5V 1.000 NULL pfam_DUF1704 - no_errors KIAA0895 HGNC KIAA2022 340533 genome.wustl.edu 37 X 73963960 73963960 + Silent SNP C C G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 X 73963960 73963960 C G SNP KIAA2022 ENST00000055682 human ensembl 70_37 -1 known silent c.432 p.R144 1.000 NULL NULL - no_errors KIAA2022 HGNC LAMB3 3914 genome.wustl.edu 37 1 209791296 209791296 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 209791296 209791296 C T SNP LAMB3 ENST00000356082 human ensembl 70_37 -1 known missense c.3007 p.G1003S 0.966 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC LARP1 23367 genome.wustl.edu 37 5 154185505 154185505 + Missense_Mutation SNP A A C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 5 154185505 154185505 A C SNP LARP1 ENST00000336314 human ensembl 70_37 +1 known missense c.2380 p.K794Q 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC LINGO2 158038 genome.wustl.edu 37 9 28295239 28295239 + RNA SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 9 28295239 28295239 C T SNP LINGO2 ENST00000493941 human ensembl 70_37 -1 known rna NULL NULL 0.966 - - - no_errors LINGO2 HGNC LOC101060787 101060787 genome.wustl.edu 37 22 20710253 20710253 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 22 20710253 20710253 C T SNP LOC101060787 ENST00000434783 human ensembl 70_37 +1 putative missense c.1985 p.A662V 0.000 NULL pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors AC007731.1 Clone_based_vega_gene LOC729218 729218 genome.wustl.edu 37 4 119554790 119554790 + RNA SNP T T C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 4 119554790 119554790 T C SNP LOC729218 ENST00000567913 human ensembl 70_37 +1 known rna NULL NULL 0.759 - - - no_errors RP11-384K6.6 Clone_based_vega_gene LRRC16A 55604 genome.wustl.edu 37 6 25435767 25435767 + Silent SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 6 25435767 25435767 C T SNP LRRC16A ENST00000329474 human ensembl 70_37 +1 novel silent c.306 p.D102 0.981 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16A HGNC LRRC8A 56262 genome.wustl.edu 37 9 131670859 131670859 + Missense_Mutation SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 9 131670859 131670859 G T SNP LRRC8A ENST00000259324 human ensembl 70_37 +1 known missense c.1416 p.K472N 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8A HGNC MAGEB18 286514 genome.wustl.edu 37 X 26157301 26157301 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 X 26157301 26157301 G A SNP MAGEB18 ENST00000325250 human ensembl 70_37 +1 known missense c.199 p.A67T 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB18 HGNC MAP3K15 389840 genome.wustl.edu 37 X 19391729 19391729 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 X 19391729 19391729 G A SNP MAP3K15 ENST00000338883 human ensembl 70_37 -1 known missense c.2858 p.P953L 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 - no_errors MAP3K15 HGNC MAU2 23383 genome.wustl.edu 37 19 19466191 19466191 + Missense_Mutation SNP C C A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 19466191 19466191 C A SNP MAU2 ENST00000262815 human ensembl 70_37 +1 known missense c.1758 p.N586K 1.000 NULL pfam_Cohesin_loading_factor,smart_TPR_repeat - no_errors MAU2 HGNC MCAT 27349 genome.wustl.edu 37 22 43529286 43529286 + Missense_Mutation SNP G G C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 22 43529286 43529286 G C SNP MCAT ENST00000290429 human ensembl 70_37 -1 known missense c.936 p.I312M 0.999 pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,smart_PKS_acyl_transferase pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_acyl_transferase - no_errors MCAT HGNC MCM7 4176 genome.wustl.edu 37 7 99693763 99693763 + Nonsense_Mutation SNP G G C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 7 99693763 99693763 G C SNP MCM7 ENST00000303887 human ensembl 70_37 -1 known nonsense c.1229 p.S410* 0.999 pfam_MCM_DNA-dep_ATPase,pfam_ATPase_dyneun-rel_AAA,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM_7,prints_MCM_4 - no_errors MCM7 HGNC MINA 84864 genome.wustl.edu 37 3 97677937 97677937 + Silent SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 3 97677937 97677937 G A SNP MINA ENST00000333396 human ensembl 70_37 -1 known silent c.639 p.A213 0.001 pfam_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfscan_JmjC_dom - no_errors MINA HGNC MIR128-2 406916 genome.wustl.edu 37 3 35786005 35786005 + RNA SNP G G C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 3 35786005 35786005 G C SNP MIR128-2 ENST00000384893 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR128-2 HGNC MIS18BP1 55320 genome.wustl.edu 37 14 45711964 45711964 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 14 45711964 45711964 C T SNP MIS18BP1 ENST00000310806 human ensembl 70_37 -1 known missense c.658 p.E220K 1.000 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC MLIP 90523 genome.wustl.edu 37 6 54095657 54095657 + Missense_Mutation SNP C C G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 6 54095657 54095657 C G SNP MLIP ENST00000274897 human ensembl 70_37 +1 known missense c.1259 p.S420C 1.000 NULL NULL - no_errors MLIP HGNC MLNR 2862 genome.wustl.edu 37 13 49795318 49795318 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 13 49795318 49795318 G A SNP MLNR ENST00000218721 human ensembl 70_37 +1 known missense c.845 p.R282Q 0.939 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,prints_GHS1_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors MLNR HGNC MMRN1 22915 genome.wustl.edu 37 4 90816728 90816728 + Silent SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 4 90816728 90816728 C T SNP MMRN1 ENST00000264790 human ensembl 70_37 +1 known silent c.606 p.F202 1.000 NULL pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain,prints_C1q - no_errors MMRN1 HGNC MPP6 51678 genome.wustl.edu 37 7 24703216 24703216 + Missense_Mutation SNP T T G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 7 24703216 24703216 T G SNP MPP6 ENST00000222644 human ensembl 70_37 +1 known missense c.659 p.V220G 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Guanylate_kin,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP6 HGNC MRPS24 64951 genome.wustl.edu 37 7 43906468 43906468 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 7 43906468 43906468 G A SNP MRPS24 ENST00000317534 human ensembl 70_37 -1 known missense c.334 p.R112C 1.000 NULL NULL - no_errors MRPS24 HGNC MUC16 94025 genome.wustl.edu 37 19 9056578 9056578 + Missense_Mutation SNP C C A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 9056578 9056578 C A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.30868 p.A10290S 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC4 4585 genome.wustl.edu 37 3 195506546 195506546 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 3 195506546 195506546 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.11905 p.L3969F 0.002 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MYO15A 51168 genome.wustl.edu 37 17 18025307 18025307 + Missense_Mutation SNP C C A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 17 18025307 18025307 C A SNP MYO15A ENST00000205890 human ensembl 70_37 +1 known missense c.3193 p.L1065M 0.757 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC MYOM1 8736 genome.wustl.edu 37 18 3126818 3126818 + Missense_Mutation SNP C C G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 18 3126818 3126818 C G SNP MYOM1 ENST00000356443 human ensembl 70_37 -1 known missense c.2872 p.D958H 0.961 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM1 HGNC NCOA1 8648 genome.wustl.edu 37 2 24916163 24916163 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 2 24916163 24916163 G A SNP NCOA1 ENST00000348332 human ensembl 70_37 +1 known missense c.755 p.R252Q 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_dom - no_errors NCOA1 HGNC NDEL1 81565 genome.wustl.edu 37 17 8349087 8349087 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 17 8349087 8349087 G A SNP NDEL1 ENST00000299734 human ensembl 70_37 +1 known missense c.145 p.A49T 1.000 NULL pfam_NUDE_C - no_errors NDEL1 HGNC NDUFV1 4723 genome.wustl.edu 37 11 67378032 67378032 + Missense_Mutation SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 11 67378032 67378032 G T SNP NDUFV1 ENST00000322776 human ensembl 70_37 +1 known missense c.691 p.A231S 0.997 pfam_NADH_UbQ_OxRdtase_51kDa_su,tigrfam_NADH-UbQ_OxRdtase_suF pfam_NADH_UbQ_OxRdtase_51kDa_su,pfam_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,pfam_Soluble_ligand-bd,smart_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,tigrfam_NADH-UbQ_OxRdtase_suF - no_errors NDUFV1 HGNC NEBL 10529 genome.wustl.edu 37 10 21141488 21141488 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 10 21141488 21141488 C T SNP NEBL ENST00000377122 human ensembl 70_37 -1 known missense c.994 p.V332I 0.197 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC NLRP10 338322 genome.wustl.edu 37 11 7982282 7982282 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 11 7982282 7982282 G A SNP NLRP10 ENST00000328600 human ensembl 70_37 -1 known missense c.877 p.R293W 0.916 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP10 HGNC NUMBL 9253 genome.wustl.edu 37 19 41179322 41179322 + Silent SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 41179322 41179322 C T SNP NUMBL ENST00000252891 human ensembl 70_37 -1 known silent c.963 p.R321 1.000 pfam_Numb_domain,pirsf_Numb/numb-like pfam_Numb_domain,pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pirsf_Numb/numb-like,pfscan_PTyr_interaction_dom - no_errors NUMBL HGNC NUP133 55746 genome.wustl.edu 37 1 229596401 229596401 + Missense_Mutation SNP T T A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 229596401 229596401 T A SNP NUP133 ENST00000261396 human ensembl 70_37 -1 known missense c.2801 p.H934L 1.000 pfam_Nucleoporin_Nup133/Nup155_C pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N - no_errors NUP133 HGNC OR52R1 119695 genome.wustl.edu 37 11 4825165 4825165 + Missense_Mutation SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 11 4825165 4825165 G T SNP OR52R1 ENST00000380382 human ensembl 70_37 -1 known missense c.683 p.T228N 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52R1 HGNC OR6C74 254783 genome.wustl.edu 37 12 55641611 55641611 + Silent SNP T T C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 12 55641611 55641611 T C SNP OR6C74 ENST00000343870 human ensembl 70_37 +1 known silent c.540 p.S180 0.274 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C74 HGNC OR6Q1 219952 genome.wustl.edu 37 11 57799099 57799099 + Silent SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 11 57799099 57799099 C T SNP OR6Q1 ENST00000302622 human ensembl 70_37 +1 known silent c.675 p.I225 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6Q1 HGNC PCDH10 57575 genome.wustl.edu 37 4 134072049 134072049 + Missense_Mutation SNP C C G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 4 134072049 134072049 C G SNP PCDH10 ENST00000264360 human ensembl 70_37 +1 known missense c.754 p.Q252E 1.000 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC PCDHB6 56130 genome.wustl.edu 37 5 140531422 140531422 + Silent SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 5 140531422 140531422 C T SNP PCDHB6 ENST00000231136 human ensembl 70_37 +1 known silent c.1584 p.R528 0.119 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC PCNT 5116 genome.wustl.edu 37 21 47831564 47831564 + Silent SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 21 47831564 47831564 C T SNP PCNT ENST00000359568 human ensembl 70_37 +1 known silent c.5577 p.F1859 0.000 NULL pfam_PACT_domain - no_errors PCNT HGNC PIK3C2B 5287 genome.wustl.edu 37 1 204438027 204438027 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 204438027 204438027 C T SNP PIK3C2B ENST00000367187 human ensembl 70_37 -1 known missense c.904 p.G302S 0.983 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC PIK3R1 5295 genome.wustl.edu 37 5 67522531 67522531 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 5 67522531 67522531 G A SNP PIK3R1 ENST00000396611 human ensembl 70_37 +1 known missense c.28 p.A10T 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC PIK3R1 5295 genome.wustl.edu 37 5 67522532 67522532 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 5 67522532 67522532 C T SNP PIK3R1 ENST00000396611 human ensembl 70_37 +1 known missense c.29 p.A10V 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC PLEKHA5 54477 genome.wustl.edu 37 12 19459337 19459337 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 12 19459337 19459337 G A SNP PLEKHA5 ENST00000309364 human ensembl 70_37 +1 known missense c.1850 p.G617D 0.006 NULL pfam_Pleckstrin_homology,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP - no_errors PLEKHA5 HGNC PLXNA3 55558 genome.wustl.edu 37 X 153694021 153694021 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 X 153694021 153694021 C T SNP PLXNA3 ENST00000369682 human ensembl 70_37 +1 known missense c.2363 p.A788V 1.000 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA3 HGNC POLE 5426 genome.wustl.edu 37 12 133256810 133256810 + Splice_Site SNP T T A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 12 133256810 133256810 T A SNP POLE ENST00000455752 human ensembl 70_37 -1 known splice_site c.319-2 e4-2 1.000 - - - no_errors POLE HGNC PRTG 283659 genome.wustl.edu 37 15 55972266 55972266 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 15 55972266 55972266 G A SNP PRTG ENST00000389286 human ensembl 70_37 -1 known missense c.959 p.T320I 0.997 smart_Ig_sub,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors PRTG HGNC QRICH1 54870 genome.wustl.edu 37 3 49094619 49094619 + Silent SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 3 49094619 49094619 G A SNP QRICH1 ENST00000357496 human ensembl 70_37 -1 known silent c.1014 p.N338 0.828 NULL pfam_DUF3504,superfamily_DEATH-like - no_errors QRICH1 HGNC RASA1 5921 genome.wustl.edu 37 5 86672329 86672329 + Nonsense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 5 86672329 86672329 C T SNP RASA1 ENST00000274376 human ensembl 70_37 +1 known nonsense c.2131 p.R711* 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGAP pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC RGL2 5863 genome.wustl.edu 37 6 33263121 33263121 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 6 33263121 33263121 G A SNP RGL2 ENST00000497454 human ensembl 70_37 -1 known missense c.1099 p.R367W 0.984 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL2 HGNC ROBO3 64221 genome.wustl.edu 37 11 124740508 124740508 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 11 124740508 124740508 G A SNP ROBO3 ENST00000397801 human ensembl 70_37 +1 known missense c.917 p.R306Q 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO3 HGNC SCAPER 49855 genome.wustl.edu 37 15 76994121 76994121 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 15 76994121 76994121 C T SNP SCAPER ENST00000324767 human ensembl 70_37 -1 known missense c.2486 p.R829H 0.999 NULL smart_Znf_U1 - no_errors SCAPER HGNC SCN8A 6334 genome.wustl.edu 37 12 52168096 52168096 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 12 52168096 52168096 G A SNP SCN8A ENST00000354534 human ensembl 70_37 +1 known missense c.3769 p.V1257I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC SH3RF2 153769 genome.wustl.edu 37 5 145428792 145428792 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 5 145428792 145428792 G A SNP SH3RF2 ENST00000359120 human ensembl 70_37 +1 known missense c.1306 p.V436I 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain - no_errors SH3RF2 HGNC SI 6476 genome.wustl.edu 37 3 164697172 164697172 + Missense_Mutation SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 3 164697172 164697172 G T SNP SI ENST00000264382 human ensembl 70_37 -1 known missense c.5462 p.P1821Q 0.948 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors SI HGNC SLC6A2 6530 genome.wustl.edu 37 16 55725925 55725925 + Silent SNP C C G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 16 55725925 55725925 C G SNP SLC6A2 ENST00000219833 human ensembl 70_37 +1 known silent c.879 p.A293 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline - no_errors SLC6A2 HGNC SLC7A14 57709 genome.wustl.edu 37 3 170204151 170204151 + Missense_Mutation SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 3 170204151 170204151 G T SNP SLC7A14 ENST00000231706 human ensembl 70_37 -1 known missense c.766 p.Q256K 1.000 pfam_AA-permease_dom pfam_AA-permease_dom - no_errors SLC7A14 HGNC SLCO1A2 6579 genome.wustl.edu 37 12 21448654 21448654 + Missense_Mutation SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 12 21448654 21448654 G T SNP SLCO1A2 ENST00000307378 human ensembl 70_37 -1 known missense c.1148 p.T383N 0.986 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1A2 HGNC SLCO1A2 6579 genome.wustl.edu 37 12 21448655 21448655 + Missense_Mutation SNP T T A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 12 21448655 21448655 T A SNP SLCO1A2 ENST00000307378 human ensembl 70_37 -1 known missense c.1147 p.T383S 0.993 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1A2 HGNC SMARCA4 6597 genome.wustl.edu 37 19 11106996 11106996 + Silent SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 11106996 11106996 G T SNP SMARCA4 ENST00000358026 human ensembl 70_37 +1 known silent c.1701 p.L567 1.000 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA4 HGNC SNORD115-4 100033441 genome.wustl.edu 37 15 25421989 25421989 + RNA SNP T T C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 15 25421989 25421989 T C SNP SNORD115-4 ENST00000363810 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors SNORD115-4 HGNC CAPN15 6650 genome.wustl.edu 37 16 596889 596889 + Silent SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 16 596889 596889 G T SNP SOLH ENST00000219611 human ensembl 70_37 +1 known silent c.51 p.P17 0.037 smart_Znf_RanBP2,pfscan_Znf_RanBP2 pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors SOLH HGNC SPTB 6710 genome.wustl.edu 37 14 65268949 65268949 + Silent SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 14 65268949 65268949 C T SNP SPTB ENST00000389722 human ensembl 70_37 -1 known silent c.561 p.T187 0.105 pirsf_Spectrin_bsu,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC SPTBN2 6712 genome.wustl.edu 37 11 66468011 66468011 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 11 66468011 66468011 C T SNP SPTBN2 ENST00000309996 human ensembl 70_37 -1 known missense c.3559 p.V1187M 0.988 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC SYCP2 10388 genome.wustl.edu 37 20 58496496 58496496 + Missense_Mutation SNP A A G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 20 58496496 58496496 A G SNP SYCP2 ENST00000357552 human ensembl 70_37 -1 known missense c.37 p.C13R 0.980 NULL NULL - no_errors SYCP2 HGNC SYNE2 23224 genome.wustl.edu 37 14 64593093 64593093 + Missense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 14 64593093 64593093 G A SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.13603 p.E4535K 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC TAF7L 54457 genome.wustl.edu 37 X 100531425 100531425 + Missense_Mutation SNP C C G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 X 100531425 100531425 C G SNP TAF7L ENST00000372907 human ensembl 70_37 -1 known missense c.1041 p.E347D 0.000 NULL pfam_TAFII55_prot_cons_reg - no_errors TAF7L HGNC TAF7L 54457 genome.wustl.edu 37 X 100531436 100531436 + Missense_Mutation SNP C C G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 X 100531436 100531436 C G SNP TAF7L ENST00000372907 human ensembl 70_37 -1 known missense c.1030 p.D344H 0.009 NULL pfam_TAFII55_prot_cons_reg - no_errors TAF7L HGNC TAS1R2 80834 genome.wustl.edu 37 1 19166295 19166295 + Missense_Mutation SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 19166295 19166295 G T SNP TAS1R2 ENST00000375371 human ensembl 70_37 -1 novel missense c.2318 p.S773Y 0.917 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC TBX10 347853 genome.wustl.edu 37 11 67402529 67402529 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 11 67402529 67402529 C T SNP TBX10 ENST00000335385 human ensembl 70_37 -1 known missense c.213 p.M71I 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX10 HGNC TCP10 6953 genome.wustl.edu 37 6 167787843 167787843 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 6 167787843 167787843 C T SNP TCP10 ENST00000397829 human ensembl 70_37 -1 known missense c.785 p.R262Q 0.000 NULL NULL - no_errors TCP10 HGNC TGFBR1 7046 genome.wustl.edu 37 9 101900342 101900342 + Missense_Mutation SNP T T A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 9 101900342 101900342 T A SNP TGFBR1 ENST00000374994 human ensembl 70_37 +1 known missense c.776 p.I259N 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,superfamily_Quinolinate_PRibosylTrfase_C,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TGFBR1 HGNC TGFBR1 7046 genome.wustl.edu 37 9 101900343 101900343 + Silent SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 9 101900343 101900343 C T SNP TGFBR1 ENST00000374994 human ensembl 70_37 +1 known silent c.777 p.I259 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,superfamily_Quinolinate_PRibosylTrfase_C,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TGFBR1 HGNC THAP8 199745 genome.wustl.edu 37 19 36530340 36530340 + Missense_Mutation SNP C C G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 36530340 36530340 C G SNP THAP8 ENST00000292894 human ensembl 70_37 -1 known missense c.557 p.R186T 0.907 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP8 HGNC TIAL1 7073 genome.wustl.edu 37 10 121356085 121356085 + RNA SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 10 121356085 121356085 G A SNP TIAL1 ENST00000479729 human ensembl 70_37 -1 known rna NULL NULL 0.988 - - - no_errors TIAL1 HGNC TICRR 90381 genome.wustl.edu 37 15 90129033 90129033 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 15 90129033 90129033 C T SNP TICRR ENST00000268138 human ensembl 70_37 +1 known missense c.1271 p.T424I 0.000 NULL NULL - no_errors TICRR HGNC TM9SF3 56889 genome.wustl.edu 37 10 98336426 98336426 + Missense_Mutation SNP T T C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 10 98336426 98336426 T C SNP TM9SF3 ENST00000371142 human ensembl 70_37 -1 known missense c.263 p.E88G 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF3 HGNC TMEM184A 202915 genome.wustl.edu 37 7 1590534 1590534 + Missense_Mutation SNP A A T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 7 1590534 1590534 A T SNP TMEM184A ENST00000297477 human ensembl 70_37 -1 known missense c.304 p.F102I 1.000 pfam_Ost-alpha pfam_Ost-alpha - no_errors TMEM184A HGNC TMTC3 160418 genome.wustl.edu 37 12 88560202 88560202 + Nonsense_Mutation SNP C C A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 12 88560202 88560202 C A SNP TMTC3 ENST00000266712 human ensembl 70_37 +1 known nonsense c.893 p.S298* 1.000 pfam_DUF1736 pfam_TPR_2,pfam_TPR-1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC3 HGNC TNC 3371 genome.wustl.edu 37 9 117848831 117848831 + Missense_Mutation SNP C C A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 9 117848831 117848831 C A SNP TNC ENST00000350763 human ensembl 70_37 -1 known missense c.1179 p.E393D 0.996 pfam_EGF_extracell,smart_EG-like_dom,pfscan_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC TPPP 11076 genome.wustl.edu 37 5 666135 666135 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 5 666135 666135 C T SNP TPPP ENST00000360578 human ensembl 70_37 -1 known missense c.415 p.E139K 0.997 pfam_P25-alpha pfam_P25-alpha - no_errors TPPP HGNC TRAF3IP3 80342 genome.wustl.edu 37 1 209949009 209949009 + Missense_Mutation SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 209949009 209949009 G T SNP TRAF3IP3 ENST00000367024 human ensembl 70_37 +1 known missense c.981 p.E327D 0.997 NULL NULL - no_errors TRAF3IP3 HGNC TRIM26 7726 genome.wustl.edu 37 6 30153705 30153705 + Missense_Mutation SNP A A G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 6 30153705 30153705 A G SNP TRIM26 ENST00000437089 human ensembl 70_37 -1 known missense c.1568 p.V523A 0.030 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,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 TRIM26 HGNC TRPM6 140803 genome.wustl.edu 37 9 77427293 77427293 + Silent SNP A A G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 9 77427293 77427293 A G SNP TRPM6 ENST00000451710 human ensembl 70_37 -1 known silent c.1365 p.F455 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC TTC39C 125488 genome.wustl.edu 37 18 21703865 21703865 + Missense_Mutation SNP C C G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 18 21703865 21703865 C G SNP TTC39C ENST00000317571 human ensembl 70_37 +1 known missense c.1254 p.F418L 1.000 pfam_OMP_IML2_mit/TPR_39,pfam_Cohesin_loading_factor pfam_OMP_IML2_mit/TPR_39,pfam_Cohesin_loading_factor - no_errors TTC39C HGNC TTF2 8458 genome.wustl.edu 37 1 117617619 117617619 + Missense_Mutation SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 1 117617619 117617619 G T SNP TTF2 ENST00000369466 human ensembl 70_37 +1 known missense c.413 p.W138L 0.998 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC TUBG2 27175 genome.wustl.edu 37 17 40818127 40818127 + Missense_Mutation SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 17 40818127 40818127 C T SNP TUBG2 ENST00000251412 human ensembl 70_37 +1 known missense c.866 p.T289M 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin - no_errors TUBG2 HGNC TXNL4A 10907 genome.wustl.edu 37 18 77748266 77748266 + Missense_Mutation SNP C C G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 18 77748266 77748266 C G SNP TXNL4A ENST00000269601 human ensembl 70_37 -1 known missense c.127 p.E43Q 1.000 pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5 pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5 - no_errors TXNL4A HGNC UGT2B10 7365 genome.wustl.edu 37 4 69692191 69692191 + Missense_Mutation SNP T T C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 4 69692191 69692191 T C SNP UGT2B10 ENST00000265403 human ensembl 70_37 +1 known missense c.1063 p.W355R 0.999 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B10 HGNC UHRF1BP1L 23074 genome.wustl.edu 37 12 100452951 100452951 + Missense_Mutation SNP A A G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 12 100452951 100452951 A G SNP UHRF1BP1L ENST00000279907 human ensembl 70_37 -1 known missense c.2104 p.W702R 1.000 NULL NULL - no_errors UHRF1BP1L HGNC VEPH1 79674 genome.wustl.edu 37 3 157213148 157213148 + RNA SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 3 157213148 157213148 G A SNP VEPH1 ENST00000483440 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors VEPH1 HGNC WASL 8976 genome.wustl.edu 37 7 123329188 123329188 + Missense_Mutation SNP T T A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 7 123329188 123329188 T A SNP WASL ENST00000223023 human ensembl 70_37 -1 known missense c.1364 p.E455V 0.996 superfamily_WASP_C pfam_EVH1,pfam_PAK_box_Rho-bd,pfam_WH2_dom,superfamily_WASP_C,smart_EVH1,smart_PAK_box_Rho-bd,smart_WH2_dom,pfscan_PAK_box_Rho-bd,pfscan_EVH1,pfscan_WH2_dom - no_errors WASL HGNC ZBTB7A 51341 genome.wustl.edu 37 19 4054919 4054919 + Silent SNP C C A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 4054919 4054919 C A SNP ZBTB7A ENST00000322357 human ensembl 70_37 -1 known silent c.312 p.V104 0.789 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7A HGNC ZDHHC11B 653082 genome.wustl.edu 37 5 710879 710879 + RNA SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 5 710879 710879 G A SNP ZDHHC11B ENST00000522356 human ensembl 70_37 -1 known rna NULL NULL 0.034 - - - no_errors ZDHHC11B HGNC ZDHHC11B 653082 genome.wustl.edu 37 5 710914 710914 + RNA SNP T T A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 5 710914 710914 T A SNP ZDHHC11B ENST00000522356 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors ZDHHC11B HGNC ZDHHC24 254359 genome.wustl.edu 37 11 66311238 66311238 + Nonsense_Mutation SNP G G A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 11 66311238 66311238 G A SNP ZDHHC24 ENST00000310442 human ensembl 70_37 -1 known nonsense c.496 p.R166* 0.997 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC24 HGNC ZNF208 7757 genome.wustl.edu 37 19 22154844 22154844 + Missense_Mutation SNP C C G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 22154844 22154844 C G SNP ZNF208 ENST00000397126 human ensembl 70_37 -1 novel missense c.2992 p.E998Q 1.000 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 ZNF208 HGNC ZNF333 84449 genome.wustl.edu 37 19 14830009 14830009 + Missense_Mutation SNP G G C TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 14830009 14830009 G C SNP ZNF333 ENST00000292530 human ensembl 70_37 +1 known missense c.1870 p.E624Q 1.000 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,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF333 HGNC ZNF528 84436 genome.wustl.edu 37 19 52909224 52909224 + Missense_Mutation SNP C C G TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 52909224 52909224 C G SNP ZNF528 ENST00000360465 human ensembl 70_37 +1 known missense c.80 p.P27R 0.025 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF528 HGNC ZNF630 57232 genome.wustl.edu 37 X 47919006 47919006 + Silent SNP C C T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 X 47919006 47919006 C T SNP ZNF630 ENST00000409324 human ensembl 70_37 -1 known silent c.825 p.K275 0.000 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 ZNF630 HGNC ZNF83 55769 genome.wustl.edu 37 19 53117245 53117245 + Missense_Mutation SNP G G T TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89a68ab1-97ef-4177-aa15-ad90f387109b f9e9f417-3040-409e-9c2f-d8b7f71f0452 19 53117245 53117245 G T SNP ZNF83 ENST00000301096 human ensembl 70_37 -1 known missense c.573 p.H191Q 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF83 HGNC