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 ABCD1 215 genome.wustl.edu 37 X 153008476 153008476 + Missense_Mutation SNP T T C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d X 153008476 153008476 T C SNP ABCD1 ENST00000218104 human ensembl 70_37 +1 known missense c.1816 p.S606P 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_FA_transporter pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter - no_errors ABCD1 HGNC ACAP1 9744 genome.wustl.edu 37 17 7252323 7252323 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 17 7252323 7252323 C T SNP ACAP1 ENST00000158762 human ensembl 70_37 +1 known missense c.1688 p.S563F 0.991 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP1 HGNC ACAP1 9744 genome.wustl.edu 37 17 7252471 7252471 + Missense_Mutation SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 17 7252471 7252471 C G SNP ACAP1 ENST00000158762 human ensembl 70_37 +1 known missense c.1836 p.I612M 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP1 HGNC ACSL3 2181 genome.wustl.edu 37 2 223789234 223789234 + Nonsense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 2 223789234 223789234 C T SNP ACSL3 ENST00000357430 human ensembl 70_37 +1 known nonsense c.1213 p.Q405* 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL3 HGNC ADARB2-AS1 642394 genome.wustl.edu 37 10 1598927 1598927 + RNA SNP G G C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 10 1598927 1598927 G C SNP ADARB2-AS1 ENST00000421697 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors ADARB2-AS1 HGNC ADRA2A 150 genome.wustl.edu 37 10 112839008 112839008 + Silent SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 10 112839008 112839008 G A SNP ADRA2A ENST00000280155 human ensembl 70_37 +1 known silent c.1254 p.V418 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adren_rcpt_A2A,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt,prints_Musac_rcpt - no_errors ADRA2A HGNC AFF3 3899 genome.wustl.edu 37 2 100185373 100185373 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 2 100185373 100185373 G A SNP AFF3 ENST00000356421 human ensembl 70_37 -1 known missense c.2998 p.R1000C 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC AGAP6 414189 genome.wustl.edu 37 10 51749089 51749089 + Missense_Mutation SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 10 51749089 51749089 C G SNP AGAP6 ENST00000374056 human ensembl 70_37 +1 known missense c.245 p.A82G 0.571 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP6 HGNC AGAP6 414189 genome.wustl.edu 37 10 51749117 51749117 + Silent SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 10 51749117 51749117 G A SNP AGAP6 ENST00000374056 human ensembl 70_37 +1 known silent c.273 p.Q91 0.950 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP6 HGNC ARHGAP17 55114 genome.wustl.edu 37 16 24988547 24988547 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 16 24988547 24988547 C T SNP ARHGAP17 ENST00000289968 human ensembl 70_37 -1 known missense c.187 p.E63K 0.998 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP17 HGNC ARMC1 55156 genome.wustl.edu 37 8 66539550 66539550 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 8 66539550 66539550 C T SNP ARMC1 ENST00000276569 human ensembl 70_37 -1 known silent c.84 p.P28 0.015 pfam_Armadillo,superfamily_ARM-type_fold,pirsf_UCP013899_metal-bd pfam_Armadillo,superfamily_ARM-type_fold,superfamily_HeavyMe-assoc_HMA,pirsf_UCP013899_metal-bd - no_errors ARMC1 HGNC ATP1B3 483 genome.wustl.edu 37 3 141644560 141644560 + RNA SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 3 141644560 141644560 C G SNP ATP1B3 ENST00000484727 human ensembl 70_37 +1 putative rna NULL NULL 0.975 - - - no_errors ATP1B3 HGNC ATR 545 genome.wustl.edu 37 3 142180859 142180859 + Missense_Mutation SNP T T G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 3 142180859 142180859 T G SNP ATR ENST00000350721 human ensembl 70_37 -1 known missense c.7115 p.D2372A 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_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 BBS2 583 genome.wustl.edu 37 16 56531748 56531748 + Silent SNP G G T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 16 56531748 56531748 G T SNP BBS2 ENST00000245157 human ensembl 70_37 -1 known silent c.1704 p.I568 1.000 pirsf_Bardet-Biedl_syndrome_2_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_2_prot - no_errors BBS2 HGNC BEND3 57673 genome.wustl.edu 37 6 107391958 107391958 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 6 107391958 107391958 G A SNP BEND3 ENST00000369042 human ensembl 70_37 -1 known missense c.437 p.S146L 0.000 NULL pfam_BEN_domain - no_errors BEND3 HGNC C6orf195 154386 genome.wustl.edu 37 6 2623874 2623874 + Silent SNP G G C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 6 2623874 2623874 G C SNP C6orf195 ENST00000296847 human ensembl 70_37 -1 known silent c.183 p.P61 0.001 NULL NULL - no_errors C6orf195 HGNC CACNA1G 8913 genome.wustl.edu 37 17 48677083 48677083 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 17 48677083 48677083 C T SNP CACNA1G ENST00000359106 human ensembl 70_37 +1 known missense c.3553 p.R1185C 0.979 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC CCDC85A 114800 genome.wustl.edu 37 2 56603037 56603037 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 2 56603037 56603037 C T SNP CCDC85A ENST00000407595 human ensembl 70_37 +1 known silent c.1539 p.S513 1.000 NULL pfam_DUF2216_coiled-coil - no_errors CCDC85A HGNC CCDC85A 114800 genome.wustl.edu 37 2 56603038 56603038 + Nonsense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 2 56603038 56603038 C T SNP CCDC85A ENST00000407595 human ensembl 70_37 +1 known nonsense c.1540 p.Q514* 1.000 NULL pfam_DUF2216_coiled-coil - no_errors CCDC85A HGNC CCNY 219771 genome.wustl.edu 37 10 35818947 35818947 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 10 35818947 35818947 C T SNP CCNY ENST00000374704 human ensembl 70_37 +1 known missense c.448 p.H150Y 1.000 superfamily_Cyclin-like,pirsf_Cyclin_Y pfam_Cyclin_N,pfam_Cyclin_PHO80-like,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_Y - no_errors CCNY HGNC CES3 23491 genome.wustl.edu 37 16 66995225 66995225 + Silent SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 16 66995225 66995225 G A SNP CES3 ENST00000303334 human ensembl 70_37 +1 known silent c.15 p.V5 0.000 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES3 HGNC CHD1 1105 genome.wustl.edu 37 5 98212254 98212254 + Silent SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 5 98212254 98212254 G A SNP CHD1 ENST00000284049 human ensembl 70_37 -1 known silent c.3246 p.F1082 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC CHD6 84181 genome.wustl.edu 37 20 40084593 40084593 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 20 40084593 40084593 C T SNP CHD6 ENST00000373233 human ensembl 70_37 -1 known silent c.2856 p.V952 0.991 pfscan_Helicase_C pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC CHRM2 1129 genome.wustl.edu 37 7 136700956 136700956 + Silent SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 7 136700956 136700956 G A SNP CHRM2 ENST00000320658 human ensembl 70_37 +1 known silent c.1344 p.K448 1.000 prints_Musac_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M2_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC CHSY1 22856 genome.wustl.edu 37 15 101719133 101719133 + Missense_Mutation SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 15 101719133 101719133 C G SNP CHSY1 ENST00000254190 human ensembl 70_37 -1 known missense c.869 p.R290T 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY1 HGNC COL1A2 1278 genome.wustl.edu 37 7 94057017 94057017 + Missense_Mutation SNP T T C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 7 94057017 94057017 T C SNP COL1A2 ENST00000297268 human ensembl 70_37 +1 known missense c.3346 p.F1116L 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C - no_errors COL1A2 HGNC COL28A1 340267 genome.wustl.edu 37 7 7472140 7472140 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 7 7472140 7472140 C T SNP COL28A1 ENST00000399429 human ensembl 70_37 -1 known silent c.1962 p.P654 0.982 NULL pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m - no_errors COL28A1 HGNC CST2 1470 genome.wustl.edu 37 20 23807192 23807192 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 20 23807192 23807192 C T SNP CST2 ENST00000304725 human ensembl 70_37 -1 known missense c.106 p.D36N 0.001 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST2 HGNC CYSLTR1 10800 genome.wustl.edu 37 X 77528893 77528893 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d X 77528893 77528893 C T SNP CYSLTR1 ENST00000373304 human ensembl 70_37 -1 known missense c.351 p.M117I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors CYSLTR1 HGNC DAB2IP 153090 genome.wustl.edu 37 9 124522191 124522191 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 9 124522191 124522191 C T SNP DAB2IP ENST00000408936 human ensembl 70_37 +1 known silent c.643 p.L215 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC DCAF16 54876 genome.wustl.edu 37 4 17805707 17805707 + Nonsense_Mutation SNP C C A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 4 17805707 17805707 C A SNP DCAF16 ENST00000382247 human ensembl 70_37 -1 known nonsense c.58 p.E20* 0.960 NULL NULL - no_errors DCAF16 HGNC DCLRE1C 64421 genome.wustl.edu 37 10 14976735 14976735 + Silent SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 10 14976735 14976735 G A SNP DCLRE1C ENST00000378278 human ensembl 70_37 -1 known silent c.504 p.F168 1.000 NULL pfam_DRMBL - no_errors DCLRE1C HGNC DDX23 9416 genome.wustl.edu 37 12 49230515 49230515 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 12 49230515 49230515 G A SNP DDX23 ENST00000308025 human ensembl 70_37 -1 known missense c.1073 p.S358F 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX23 HGNC DENND4B 9909 genome.wustl.edu 37 1 153902843 153902843 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 1 153902843 153902843 C T SNP DENND4B ENST00000361217 human ensembl 70_37 -1 known missense c.4421 p.R1474Q 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC DNAH11 8701 genome.wustl.edu 37 7 21603847 21603847 + Silent SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 7 21603847 21603847 G A SNP DNAH11 ENST00000328843 human ensembl 70_37 +1 known silent c.1026 p.L342 0.971 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC DNAH11 8701 genome.wustl.edu 37 7 21827105 21827105 + Silent SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 7 21827105 21827105 G A SNP DNAH11 ENST00000328843 human ensembl 70_37 +1 known silent c.9849 p.L3283 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC DNTTIP2 30836 genome.wustl.edu 37 1 94344778 94344778 + RNA SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 1 94344778 94344778 C G SNP DNTTIP2 ENST00000460191 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors DNTTIP2 HGNC DZIP1L 199221 genome.wustl.edu 37 3 137811366 137811366 + Missense_Mutation SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 3 137811366 137811366 C G SNP DZIP1L ENST00000327532 human ensembl 70_37 -1 known missense c.729 p.Q243H 0.997 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC EFEMP2 30008 genome.wustl.edu 37 11 65637669 65637669 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 11 65637669 65637669 C T SNP EFEMP2 ENST00000307998 human ensembl 70_37 -1 known missense c.530 p.C177Y 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,prints_Thrombomodulin pfam_EGF-like_Ca-bd,superfamily_TIL_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors EFEMP2 HGNC ELL 8178 genome.wustl.edu 37 19 18557290 18557290 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 19 18557290 18557290 C T SNP ELL ENST00000262809 human ensembl 70_37 -1 known silent c.1533 p.L511 0.884 NULL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL HGNC EML2 24139 genome.wustl.edu 37 19 46116846 46116846 + Missense_Mutation SNP C C A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 19 46116846 46116846 C A SNP EML2 ENST00000587152 human ensembl 70_37 -1 known missense c.2380 p.D794Y 1.000 superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML2 HGNC ENSG00000231970 0 genome.wustl.edu 37 10 99161090 99161090 + RNA SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 10 99161090 99161090 C G SNP ENSG00000231970 ENST00000422848 human ensembl 70_37 +1 known rna NULL NULL 0.995 - - - no_errors RP11-452K12.7 Clone_based_vega_gene ENSG00000233175 0 genome.wustl.edu 37 17 43318472 43318473 + RNA INS - - C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 17 43318472 43318473 - C INS ENSG00000233175 ENST00000587534 human ensembl 70_37 -1 known rna NULL NULL 0.950:0.998 - - - no_errors CTD-2020K17.3 Clone_based_vega_gene ENSG00000243613 0 genome.wustl.edu 37 1 153719426 153719426 + RNA SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 1 153719426 153719426 C T SNP ENSG00000243613 ENST00000453778 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-216N14.8 Clone_based_vega_gene EP400 57634 genome.wustl.edu 37 12 132529427 132529427 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 12 132529427 132529427 C T SNP EP400 ENST00000333577 human ensembl 70_37 +1 known missense c.6821 p.P2274L 1.000 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC FAT4 79633 genome.wustl.edu 37 4 126398366 126398366 + Missense_Mutation SNP C C A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 4 126398366 126398366 C A SNP FAT4 ENST00000394329 human ensembl 70_37 +1 known missense c.12350 p.P4117Q 0.986 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC FGF21 26291 genome.wustl.edu 37 19 49259545 49259545 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 19 49259545 49259545 C T SNP FGF21 ENST00000222157 human ensembl 70_37 +1 known silent c.52 p.L18 0.763 superfamily_Cytokine_IL1-like,pirsf_Fibroblast_GF_15/19/21 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,pirsf_Fibroblast_GF_15/19/21,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF21 HGNC FLG 2312 genome.wustl.edu 37 1 152281070 152281070 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 1 152281070 152281070 C T SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.6292 p.E2098K 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC FLG 2312 genome.wustl.edu 37 1 152281894 152281894 + Missense_Mutation SNP C C A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 1 152281894 152281894 C A SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.5468 p.G1823V 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC FRY 10129 genome.wustl.edu 37 13 32776660 32776660 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 13 32776660 32776660 C T SNP FRY ENST00000380250 human ensembl 70_37 +1 known silent c.4014 p.F1338 1.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC GADD45B 4616 genome.wustl.edu 37 19 2476585 2476585 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 19 2476585 2476585 C T SNP GADD45B ENST00000215631 human ensembl 70_37 +1 known missense c.103 p.R35C 1.000 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors GADD45B HGNC GGT3P 2679 genome.wustl.edu 37 22 18778604 18778604 + RNA SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 22 18778604 18778604 G A SNP GGT3P ENST00000412448 human ensembl 70_37 -1 known rna NULL NULL 0.334 - - - no_errors GGT3P HGNC GJA9 81025 genome.wustl.edu 37 1 39341324 39341324 + Silent SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 1 39341324 39341324 G A SNP GJA9 ENST00000357771 human ensembl 70_37 -1 known silent c.447 p.L149 0.986 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJA9 HGNC COLGALT1 79709 genome.wustl.edu 37 19 17678289 17678289 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 19 17678289 17678289 C T SNP GLT25D1 ENST00000252599 human ensembl 70_37 +1 known silent c.564 p.V188 1.000 NULL pfam_Glyco_trans_25 - no_errors GLT25D1 HGNC HADH 3033 genome.wustl.edu 37 4 108953508 108953508 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 4 108953508 108953508 C T SNP HADH ENST00000403312 human ensembl 70_37 +1 known silent c.735 p.N245 0.000 superfamily_6-PGluconate_DH_C-like pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,pfam_AlaDH/PNT_NAD(H)-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_UDP-Glc/GDP-Man_DH_N,superfamily_6-PGluconate_DH_C-like - no_errors HADH HGNC HEATR5B 54497 genome.wustl.edu 37 2 37295890 37295890 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 2 37295890 37295890 C T SNP HEATR5B ENST00000233099 human ensembl 70_37 -1 known missense c.1111 p.E371K 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC HERC4 26091 genome.wustl.edu 37 10 69726539 69726539 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 10 69726539 69726539 C T SNP HERC4 ENST00000395198 human ensembl 70_37 -1 known silent c.1827 p.Q609 0.999 NULL pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC4 HGNC HSDL2 84263 genome.wustl.edu 37 9 115221855 115221855 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 9 115221855 115221855 C T SNP HSDL2 ENST00000398805 human ensembl 70_37 +1 known missense c.1142 p.S381L 1.000 pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom pfam_SCP2_sterol-bd_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,prints_Glc/ribitol_DH - no_errors HSDL2 HGNC IFT122 55764 genome.wustl.edu 37 3 129236334 129236334 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 3 129236334 129236334 C T SNP IFT122 ENST00000296266 human ensembl 70_37 +1 known silent c.3441 p.F1147 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC IQCA1 79781 genome.wustl.edu 37 2 237272528 237272528 + Missense_Mutation SNP G G C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 2 237272528 237272528 G C SNP IQCA1 ENST00000409907 human ensembl 70_37 -1 known missense c.1764 p.I588M 1.000 pfam_ATPase_AAA_core pfam_ATPase_AAA_core,pfscan_IQ_motif_EF-hand-BS - no_errors IQCA1 HGNC ITGA7 3679 genome.wustl.edu 37 12 56091557 56091557 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 12 56091557 56091557 G A SNP ITGA7 ENST00000555728 human ensembl 70_37 -1 known missense c.1463 p.S488L 0.999 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ITGAE 3682 genome.wustl.edu 37 17 3661017 3661017 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 17 3661017 3661017 C T SNP ITGAE ENST00000263087 human ensembl 70_37 -1 known missense c.1003 p.E335K 0.997 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAE HGNC KCNE3 10008 genome.wustl.edu 37 11 74168589 74168589 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 11 74168589 74168589 G A SNP KCNE3 ENST00000310128 human ensembl 70_37 -1 known missense c.20 p.T7M 0.814 prints_K_chnl_volt-dep_bsu_KCNE3 pfam_K_chnl_volt-dep_bsu_KCNE,prints_K_chnl_volt-dep_bsu_KCNE3,prints_K_chnl_volt-dep_bsu_KCNE - no_errors KCNE3 HGNC KDM6A 7403 genome.wustl.edu 37 X 44942757 44942757 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d X 44942757 44942757 G A SNP KDM6A ENST00000382899 human ensembl 70_37 +1 known missense c.3358 p.V1120I 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC KIAA1324 57535 genome.wustl.edu 37 1 109714534 109714534 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 1 109714534 109714534 G A SNP KIAA1324 ENST00000369939 human ensembl 70_37 +1 known missense c.514 p.E172K 1.000 superfamily_Growth_fac_rcpt superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt - no_errors KIAA1324 HGNC KIAA2026 158358 genome.wustl.edu 37 9 5923062 5923062 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 9 5923062 5923062 C T SNP KIAA2026 ENST00000399933 human ensembl 70_37 -1 novel silent c.2934 p.K978 0.683 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC KNTC1 9735 genome.wustl.edu 37 12 123087422 123087422 + Silent SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 12 123087422 123087422 G A SNP KNTC1 ENST00000333479 human ensembl 70_37 +1 known silent c.4872 p.S1624 0.115 pfam_RZZ-complex_KNTC1/ROD_C pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC LCA5L 150082 genome.wustl.edu 37 21 40795190 40795190 + Missense_Mutation SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 21 40795190 40795190 C G SNP LCA5L ENST00000288350 human ensembl 70_37 -1 known missense c.549 p.L183F 0.997 NULL NULL - no_errors LCA5L HGNC LOC101060092 101060092 genome.wustl.edu 37 10 17927340 17927340 + Silent SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 10 17927340 17927340 C G SNP LOC101060092 ENST00000331429 human ensembl 70_37 +1 novel silent c.3042 p.V1014 0.974 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC1L1 Clone_based_vega_gene LRP2 4036 genome.wustl.edu 37 2 170022443 170022443 + Missense_Mutation SNP G G C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 2 170022443 170022443 G C SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known missense c.11757 p.H3919Q 0.740 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC LYL1 4066 genome.wustl.edu 37 19 13211489 13211489 + Missense_Mutation SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 19 13211489 13211489 C G SNP LYL1 ENST00000264824 human ensembl 70_37 -1 known missense c.409 p.E137Q 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors LYL1 HGNC LYSMD4 145748 genome.wustl.edu 37 15 100269463 100269463 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 15 100269463 100269463 C T SNP LYSMD4 ENST00000344791 human ensembl 70_37 -1 known silent c.759 p.L253 0.917 NULL NULL - no_errors LYSMD4 HGNC MAP3K9 4293 genome.wustl.edu 37 14 71267429 71267429 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 14 71267429 71267429 C T SNP MAP3K9 ENST00000555993 human ensembl 70_37 -1 known missense c.775 p.E259K 1.000 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors MAP3K9 HGNC MAP7D1 55700 genome.wustl.edu 37 1 36643631 36643631 + Nonsense_Mutation SNP G G T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 1 36643631 36643631 G T SNP MAP7D1 ENST00000373151 human ensembl 70_37 +1 known nonsense c.1537 p.E513* 1.000 NULL pfam_E-MAP-115 - no_errors MAP7D1 HGNC MDN1 23195 genome.wustl.edu 37 6 90396657 90396657 + Missense_Mutation SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 6 90396657 90396657 C G SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.11536 p.E3846Q 1.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC METTL12 751071 genome.wustl.edu 37 11 62432882 62432882 + RNA SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 11 62432882 62432882 G A SNP METTL12 ENST00000594728 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors METTL12 HGNC MIS18BP1 55320 genome.wustl.edu 37 14 45693467 45693467 + Missense_Mutation SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 14 45693467 45693467 C G SNP MIS18BP1 ENST00000310806 human ensembl 70_37 -1 known missense c.2323 p.E775Q 0.937 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC KMT2D 8085 genome.wustl.edu 37 12 49420492 49420492 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 12 49420492 49420492 C T SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.15257 p.R5086Q 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC MYH13 8735 genome.wustl.edu 37 17 10248901 10248901 + Silent SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 17 10248901 10248901 G A SNP MYH13 ENST00000252172 human ensembl 70_37 -1 known silent c.1296 p.A432 0.692 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC MYH14 79784 genome.wustl.edu 37 19 50747551 50747551 + Missense_Mutation SNP G G C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 19 50747551 50747551 G C SNP MYH14 ENST00000262269 human ensembl 70_37 +1 known missense c.1167 p.K389N 0.986 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC MYH6 4624 genome.wustl.edu 37 14 23869468 23869468 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 14 23869468 23869468 C T SNP MYH6 ENST00000356287 human ensembl 70_37 -1 known silent c.1578 p.E526 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC MYH7B 57644 genome.wustl.edu 37 20 33577924 33577927 + Frame_Shift_Del DEL TGAG TGAG - TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 TGAG TGAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 20 33577924 33577927 TGAG - DEL MYH7B ENST00000262873 human ensembl 70_37 +1 novel frame_shift_del c.2001_2004 p.Y667fs 0.997:1.000:1.000:1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC MYT1 4661 genome.wustl.edu 37 20 62853251 62853251 + Missense_Mutation SNP G G C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 20 62853251 62853251 G C SNP MYT1 ENST00000536311 human ensembl 70_37 +1 known missense c.2328 p.E776D 1.000 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC MYT1L 23040 genome.wustl.edu 37 2 1926313 1926313 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 2 1926313 1926313 C T SNP MYT1L ENST00000399161 human ensembl 70_37 -1 known missense c.1228 p.D410N 0.997 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC NCAM2 4685 genome.wustl.edu 37 21 22746206 22746206 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 21 22746206 22746206 C T SNP NCAM2 ENST00000400546 human ensembl 70_37 +1 known silent c.1068 p.V356 0.999 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh - no_errors NCAM2 HGNC NCOR1 9611 genome.wustl.edu 37 17 15976884 15976884 + Splice_Site SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 17 15976884 15976884 C T SNP NCOR1 ENST00000268712 human ensembl 70_37 -1 known splice_site c.3671-1 e27-1 1.000 - - - no_errors NCOR1 HGNC NDST4 64579 genome.wustl.edu 37 4 115998171 115998171 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 4 115998171 115998171 G A SNP NDST4 ENST00000264363 human ensembl 70_37 -1 known missense c.22 p.R8W 1.000 NULL pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST4 HGNC NF1 4763 genome.wustl.edu 37 17 29553644 29553644 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 17 29553644 29553644 C T SNP NF1 ENST00000358273 human ensembl 70_37 +1 known silent c.2193 p.L731 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC NF1 4763 genome.wustl.edu 37 17 29554588 29554588 + Missense_Mutation SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 17 29554588 29554588 C G SNP NF1 ENST00000358273 human ensembl 70_37 +1 known missense c.2373 p.I791M 0.998 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC NF1 4763 genome.wustl.edu 37 17 29556206 29556206 + Missense_Mutation SNP C C A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 17 29556206 29556206 C A SNP NF1 ENST00000358273 human ensembl 70_37 +1 known missense c.2573 p.S858Y 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC NFE2L2 4780 genome.wustl.edu 37 2 178098799 178098799 + Missense_Mutation SNP T T A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 2 178098799 178098799 T A SNP NFE2L2 ENST00000397062 human ensembl 70_37 -1 known missense c.246 p.E82D 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC NOTCH1 4851 genome.wustl.edu 37 9 139399781 139399781 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 9 139399781 139399781 G A SNP NOTCH1 ENST00000277541 human ensembl 70_37 -1 known missense c.4567 p.R1523C 0.353 smart_Notch_dom,pirsf_Notch,pfscan_Notch_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC NPAS2 4862 genome.wustl.edu 37 2 101611992 101611992 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 2 101611992 101611992 G A SNP NPAS2 ENST00000542504 human ensembl 70_37 +1 known missense c.2618 p.R873Q 0.901 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_dom,tigrfam_PAS - no_errors NPAS2 HGNC NRXN1 9378 genome.wustl.edu 37 2 51255079 51255079 + Silent SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 2 51255079 51255079 G A SNP NRXN1 ENST00000402717 human ensembl 70_37 -1 known silent c.333 p.D111 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC OBSCN 84033 genome.wustl.edu 37 1 228486166 228486166 + Nonsense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 1 228486166 228486166 C T SNP OBSCN ENST00000366707 human ensembl 70_37 +1 known nonsense c.3028 p.R1010* 0.000 pfam_Ig_I-set,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC OR8B8 26493 genome.wustl.edu 37 11 124310460 124310460 + Silent SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 11 124310460 124310460 G A SNP OR8B8 ENST00000328064 human ensembl 70_37 -1 putative silent c.522 p.V174 0.012 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 OR8B8 HGNC OTUD6A 139562 genome.wustl.edu 37 X 69282720 69282720 + Missense_Mutation SNP G G C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d X 69282720 69282720 G C SNP OTUD6A ENST00000338352 human ensembl 70_37 +1 known missense c.346 p.E116Q 0.250 NULL pfam_OTU,pfscan_OTU - no_errors OTUD6A HGNC PALD1 27143 genome.wustl.edu 37 10 72298040 72298040 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 10 72298040 72298040 C T SNP PALD1 ENST00000263563 human ensembl 70_37 +1 known missense c.1328 p.P443L 1.000 NULL smart_Tyr_Pase_cat - no_errors PALD1 HGNC PC 5091 genome.wustl.edu 37 11 66618223 66618223 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 11 66618223 66618223 C T SNP PC ENST00000393958 human ensembl 70_37 -1 known missense c.2395 p.D799N 0.994 pfam_PYR_CT,pirsf_Pyruv_COase,pfscan_PYR_CT,tigrfam_Pyruv_COase pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase - no_errors PC HGNC PCDH9 5101 genome.wustl.edu 37 13 67801613 67801613 + Silent SNP T T C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 13 67801613 67801613 T C SNP PCDH9 ENST00000377865 human ensembl 70_37 -1 known silent c.960 p.R320 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC PCDHGA6 56109 genome.wustl.edu 37 5 140755393 140755393 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 5 140755393 140755393 C T SNP PCDHGA6 ENST00000517434 human ensembl 70_37 +1 known silent c.1743 p.S581 0.007 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC PKN1 5585 genome.wustl.edu 37 19 14554355 14554355 + Silent SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 19 14554355 14554355 G A SNP PKN1 ENST00000342216 human ensembl 70_37 +1 known silent c.414 p.E138 1.000 pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors PKN1 HGNC PLAU 5328 genome.wustl.edu 37 10 75672700 75672700 + Missense_Mutation SNP A A T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 10 75672700 75672700 A T SNP PLAU ENST00000372764 human ensembl 70_37 +1 known missense c.212 p.Y71F 0.598 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Peptidase_S1_S6,pfam_Kringle,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PLAU HGNC PLEC 5339 genome.wustl.edu 37 8 145024409 145024409 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 8 145024409 145024409 G A SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.466 p.P156S 0.959 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC POLR1A 25885 genome.wustl.edu 37 2 86258468 86258468 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 2 86258468 86258468 C T SNP POLR1A ENST00000263857 human ensembl 70_37 -1 known silent c.4563 p.E1521 0.207 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC PPP2R1A 5518 genome.wustl.edu 37 19 52714601 52714601 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 19 52714601 52714601 C T SNP PPP2R1A ENST00000322088 human ensembl 70_37 +1 known missense c.359 p.S120L 0.999 superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1A HGNC PRKDC 5591 genome.wustl.edu 37 8 48830905 48830905 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 8 48830905 48830905 G A SNP PRKDC ENST00000314191 human ensembl 70_37 -1 known missense c.2458 p.R820W 0.955 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC PSMB8 5696 genome.wustl.edu 37 6 32810860 32810860 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 6 32810860 32810860 C T SNP PSMB8 ENST00000374882 human ensembl 70_37 -1 known missense c.154 p.E52K 0.012 NULL pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB8 HGNC PSMC2 5701 genome.wustl.edu 37 7 103008390 103008390 + Missense_Mutation SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 7 103008390 103008390 C G SNP PSMC2 ENST00000292644 human ensembl 70_37 +1 known missense c.1191 p.I397M 1.000 tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC2 HGNC PSMD2 5708 genome.wustl.edu 37 3 184026613 184026613 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 3 184026613 184026613 C T SNP PSMD2 ENST00000310118 human ensembl 70_37 +1 known missense c.2662 p.L888F 0.999 pirsf_26S_Psome_Rpn1 pfam_APC_proteasome,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 - no_errors PSMD2 HGNC QPCT 25797 genome.wustl.edu 37 2 37596909 37596909 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 2 37596909 37596909 G A SNP QPCT ENST00000338415 human ensembl 70_37 +1 known missense c.805 p.E269K 0.000 pfam_Peptidase_M28 pfam_Peptidase_M28 - no_errors QPCT HGNC RAB36 9609 genome.wustl.edu 37 22 23495275 23495275 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 22 23495275 23495275 G A SNP RAB36 ENST00000263116 human ensembl 70_37 +1 known missense c.481 p.E161K 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB36 HGNC RGL1 23179 genome.wustl.edu 37 1 183874076 183874076 + Silent SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 1 183874076 183874076 G A SNP RGL1 ENST00000304685 human ensembl 70_37 +1 known silent c.1548 p.Q516 1.000 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,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 RGL1 HGNC RP1L1 94137 genome.wustl.edu 37 8 10466630 10466630 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 8 10466630 10466630 C T SNP RP1L1 ENST00000382483 human ensembl 70_37 -1 known missense c.4978 p.E1660K 0.502 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC RRM2 6241 genome.wustl.edu 37 2 10263000 10263000 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 2 10263000 10263000 C T SNP RRM2 ENST00000360566 human ensembl 70_37 +1 known silent c.255 p.L85 0.004 NULL pfam_RNR_small,superfamily_Ferritin/RNR-like - no_errors RRM2 HGNC RTN2 6253 genome.wustl.edu 37 19 45997610 45997610 + Missense_Mutation SNP C C A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 19 45997610 45997610 C A SNP RTN2 ENST00000245923 human ensembl 70_37 -1 known missense c.628 p.G210C 0.000 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN2 HGNC SBDS 51119 genome.wustl.edu 37 7 66453398 66453398 + Missense_Mutation SNP T T C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 7 66453398 66453398 T C SNP SBDS ENST00000246868 human ensembl 70_37 -1 known missense c.713 p.N238S 0.396 NULL pfam_Ribosome_mat_SBDS_C,pfam_Ribosome_mat_SBDS_N,superfamily_Ribosome_mat_SBDS_N,tigrfam_Ribosome_maturation_pr_SBDS - no_errors SBDS HGNC SCGB2B2 284402 genome.wustl.edu 37 19 35085427 35085427 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 19 35085427 35085427 C T SNP SCGB2B2 ENST00000379204 human ensembl 70_37 -1 known silent c.42 p.L14 0.093 pfam_Uteroglobin-like_superfam pfam_Uteroglobin-like_superfam,pfam_Allergen_Fel_d_1_chain2,superfamily_Secretoglobin - no_errors SCGB2B2 HGNC SCN5A 6331 genome.wustl.edu 37 3 38648201 38648201 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 3 38648201 38648201 G A SNP SCN5A ENST00000333535 human ensembl 70_37 -1 known missense c.1099 p.R367C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC SEC24A 10802 genome.wustl.edu 37 5 134002535 134002535 + Silent SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 5 134002535 134002535 G A SNP SEC24A ENST00000398844 human ensembl 70_37 +1 known silent c.588 p.V196 0.580 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24A HGNC SEPHS1 22929 genome.wustl.edu 37 10 13386938 13386938 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 10 13386938 13386938 C T SNP SEPHS1 ENST00000327347 human ensembl 70_37 -1 known missense c.13 p.E5K 1.000 NULL pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD - no_errors SEPHS1 HGNC SERPINB11 89778 genome.wustl.edu 37 18 61390278 61390278 + Missense_Mutation SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 18 61390278 61390278 C G SNP SERPINB11 ENST00000536691 human ensembl 70_37 +1 known missense c.299 p.S100C 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB11 HGNC SGOL2 151246 genome.wustl.edu 37 2 201440108 201440108 + Missense_Mutation SNP G G C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 2 201440108 201440108 G C SNP SGOL2 ENST00000357799 human ensembl 70_37 +1 known missense c.3706 p.E1236Q 0.540 NULL NULL - no_errors SGOL2 HGNC SLC35G2 80723 genome.wustl.edu 37 3 136574394 136574394 + Silent SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 3 136574394 136574394 C T SNP SLC35G2 ENST00000393079 human ensembl 70_37 +1 known silent c.1092 p.L364 0.999 pfam_DMT pfam_DMT - no_errors SLC35G2 HGNC SLC36A2 153201 genome.wustl.edu 37 5 150696422 150696422 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 5 150696422 150696422 C T SNP SLC36A2 ENST00000335244 human ensembl 70_37 -1 known missense c.1408 p.E470K 0.000 NULL pfam_AA_transpt_TM - no_errors SLC36A2 HGNC SLC39A5 283375 genome.wustl.edu 37 12 56630255 56630255 + Missense_Mutation SNP C C A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 12 56630255 56630255 C A SNP SLC39A5 ENST00000266980 human ensembl 70_37 +1 known missense c.1021 p.Q341K 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A5 HGNC SLC39A5 283375 genome.wustl.edu 37 12 56630958 56630958 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 12 56630958 56630958 C T SNP SLC39A5 ENST00000266980 human ensembl 70_37 +1 known missense c.1313 p.S438L 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A5 HGNC SLC39A5 283375 genome.wustl.edu 37 12 56631000 56631000 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 12 56631000 56631000 C T SNP SLC39A5 ENST00000266980 human ensembl 70_37 +1 known missense c.1355 p.S452F 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A5 HGNC SLC6A11 6538 genome.wustl.edu 37 3 10916770 10916770 + Missense_Mutation SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 3 10916770 10916770 C G SNP SLC6A11 ENST00000254488 human ensembl 70_37 +1 known missense c.881 p.S294C 0.998 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3 - no_errors SLC6A11 HGNC SMYD4 114826 genome.wustl.edu 37 17 1684631 1684631 + Missense_Mutation SNP C C A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 17 1684631 1684631 C A SNP SMYD4 ENST00000305513 human ensembl 70_37 -1 known missense c.2364 p.M788I 1.000 NULL pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD4 HGNC SOCS4 122809 genome.wustl.edu 37 14 55509864 55509864 + Missense_Mutation SNP G G C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 14 55509864 55509864 G C SNP SOCS4 ENST00000339298 human ensembl 70_37 +1 known missense c.105 p.K35N 1.000 NULL pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS4 HGNC SSH3 54961 genome.wustl.edu 37 11 67075201 67075201 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 11 67075201 67075201 C T SNP SSH3 ENST00000308127 human ensembl 70_37 +1 known missense c.784 p.P262S 0.013 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH3 HGNC STRBP 55342 genome.wustl.edu 37 9 125923338 125923338 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 9 125923338 125923338 G A SNP STRBP ENST00000348403 human ensembl 70_37 -1 known missense c.545 p.S182L 0.998 pfam_DZF,smart_DZF pfam_DZF,pfam_Ds-RNA-bd,smart_DZF,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd - no_errors STRBP HGNC TEK 7010 genome.wustl.edu 37 9 27169490 27169490 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 9 27169490 27169490 C T SNP TEK ENST00000380036 human ensembl 70_37 +1 known missense c.491 p.S164L 0.994 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC TMPRSS11A 339967 genome.wustl.edu 37 4 68780365 68780365 + Missense_Mutation SNP C C G TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 4 68780365 68780365 C G SNP TMPRSS11A ENST00000334830 human ensembl 70_37 -1 known missense c.1045 p.D349H 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_SEA,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS11A HGNC TNNT2 7139 genome.wustl.edu 37 1 201333443 201333443 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 1 201333443 201333443 G A SNP TNNT2 ENST00000458432 human ensembl 70_37 -1 known missense c.478 p.R160W 1.000 pfam_Troponin pfam_Troponin - no_errors TNNT2 HGNC TPM2 7169 genome.wustl.edu 37 9 35685308 35685308 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 9 35685308 35685308 C T SNP TPM2 ENST00000378300 human ensembl 70_37 -1 known missense c.521 p.G174E 1.000 pfam_Tropomyosin pfam_Tropomyosin,prints_Tropomyosin - no_errors TPM2 HGNC TPR 7175 genome.wustl.edu 37 1 186292910 186292910 + Nonsense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 1 186292910 186292910 G A SNP TPR ENST00000367478 human ensembl 70_37 -1 known nonsense c.6205 p.R2069* 0.989 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC UBASH3A 53347 genome.wustl.edu 37 21 43867194 43867194 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 21 43867194 43867194 G A SNP UBASH3A ENST00000319294 human ensembl 70_37 +1 known missense c.1876 p.E626K 0.987 NULL pfam_His_Pase_superF_clade-1,pfam_SH3_domain,superfamily_SH3_domain,superfamily_UBA-like,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBASH3A HGNC UBE2Q1 55585 genome.wustl.edu 37 1 154524838 154524840 + RNA DEL CTC CTC - TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 1 154524838 154524840 CTC - DEL UBE2Q1 ENST00000474181 human ensembl 70_37 -1 known rna NULL NULL 0.008:0.000:0.000 - - - no_errors UBE2Q1 HGNC UFL1 23376 genome.wustl.edu 37 6 96988513 96988513 + Nonsense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 6 96988513 96988513 C T SNP UFL1 ENST00000369278 human ensembl 70_37 +1 known nonsense c.1261 p.R421* 0.997 NULL pfam_E3_UFM1_ligase_1 - no_errors UFL1 HGNC UHRF2 115426 genome.wustl.edu 37 9 6434113 6434113 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 9 6434113 6434113 C T SNP UHRF2 ENST00000276893 human ensembl 70_37 +1 known missense c.584 p.T195M 1.000 pfam_DUF3590 pfam_SRA_YDG,pfam_DUF3590,pfam_Ubiquitin,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Ubiquitin,smart_Znf_PHD,smart_Znf_RING,smart_SRA_YDG,pfscan_SRA_YDG,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup - no_errors UHRF2 HGNC ZBTB38 253461 genome.wustl.edu 37 3 141162660 141162660 + Missense_Mutation SNP G G C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 3 141162660 141162660 G C SNP ZBTB38 ENST00000321464 human ensembl 70_37 +1 known missense c.1433 p.R478T 0.999 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZBTB38 HGNC ZBTB38 253461 genome.wustl.edu 37 3 141162767 141162767 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 3 141162767 141162767 G A SNP ZBTB38 ENST00000321464 human ensembl 70_37 +1 known missense c.1540 p.E514K 1.000 pfscan_Znf_C2H2 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 ZBTB38 HGNC ZBTB38 253461 genome.wustl.edu 37 3 141164162 141164162 + Missense_Mutation SNP G G C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 3 141164162 141164162 G C SNP ZBTB38 ENST00000321464 human ensembl 70_37 +1 known missense c.2935 p.E979Q 0.109 NULL 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 ZBTB38 HGNC ZNF532 55205 genome.wustl.edu 37 18 56587446 56587446 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 18 56587446 56587446 G A SNP ZNF532 ENST00000336078 human ensembl 70_37 +1 known missense c.1927 p.E643K 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ZNF645 158506 genome.wustl.edu 37 X 22291584 22291584 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d X 22291584 22291584 C T SNP ZNF645 ENST00000323684 human ensembl 70_37 +1 known missense c.476 p.P159L 0.004 NULL pfscan_Znf_RING,pfscan_Znf_C2H2 - no_errors ZNF645 HGNC ZNF728 388523 genome.wustl.edu 37 19 23171255 23171255 + Splice_Site SNP T T A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32b46e90-0ae6-4a05-a9b7-2789bbbe302f 50a0ff00-368c-4a4b-bd1c-61c55290fb5d 19 23171255 23171255 T A SNP ZNF728 ENST00000594710 human ensembl 70_37 -1 novel splice_site c.4-2 e2-2 0.072 - - - no_errors ZNF728 HGNC