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 ABCA9 10350 genome.wustl.edu 37 17 67045564 67045564 + Missense_Mutation SNP T T A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 17 67045564 67045564 T A SNP ABCA9 ENST00000340001 human ensembl 70_37 -1 known missense c.164 p.H55L 0.003 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC APC 324 genome.wustl.edu 37 5 112179351 112179351 + Missense_Mutation SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 5 112179351 112179351 C T SNP APC ENST00000257430 human ensembl 70_37 +1 known missense c.8060 p.S2687L 0.974 pfam_EB1-bd pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ATP9A 10079 genome.wustl.edu 37 20 50287703 50287703 + Silent SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 20 50287703 50287703 C T SNP ATP9A ENST00000338821 human ensembl 70_37 -1 known silent c.1131 p.T377 0.104 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP9A HGNC BCORL1 63035 genome.wustl.edu 37 X 129139195 129139195 + RNA SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 X 129139195 129139195 G A SNP BCORL1 ENST00000488135 human ensembl 70_37 +1 known rna NULL NULL 0.997 - - - no_errors BCORL1 HGNC BPIFB4 149954 genome.wustl.edu 37 20 31695549 31695549 + Splice_Site SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 20 31695549 31695549 G A SNP BPIFB4 ENST00000375483 human ensembl 70_37 +1 known splice_site c.1745-1 e15-1 0.999 - - - no_errors BPIFB4 HGNC CASKIN2 57513 genome.wustl.edu 37 17 73497691 73497691 + Missense_Mutation SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 17 73497691 73497691 G A SNP CASKIN2 ENST00000321617 human ensembl 70_37 -1 known missense c.3376 p.R1126C 0.999 NULL 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 CELP 1057 genome.wustl.edu 37 9 135960308 135960308 + RNA SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 9 135960308 135960308 C T SNP CELP ENST00000411440 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CELP HGNC CHERP 10523 genome.wustl.edu 37 19 16636365 16636365 + Missense_Mutation SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 19 16636365 16636365 C T SNP CHERP ENST00000546361 human ensembl 70_37 -1 known missense c.1429 p.D477N 0.854 NULL pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors CHERP HGNC CNKSR2 22866 genome.wustl.edu 37 X 21581385 21581385 + Missense_Mutation SNP G G C TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 X 21581385 21581385 G C SNP CNKSR2 ENST00000379510 human ensembl 70_37 +1 known missense c.1423 p.E475Q 1.000 pfam_CNKSR2 pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC CYP21A2 1589 genome.wustl.edu 37 6 32006938 32006938 + Silent SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 6 32006938 32006938 C T SNP CYP21A2 ENST00000418967 human ensembl 70_37 +1 known silent c.360 p.H120 0.986 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP21A2 HGNC DAP3 7818 genome.wustl.edu 37 1 155658795 155658795 + RNA SNP G G T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 1 155658795 155658795 G T SNP DAP3 ENST00000461479 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DAP3 HGNC DLC1 10395 genome.wustl.edu 37 8 12943867 12943867 + Silent SNP G G T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 8 12943867 12943867 G T SNP DLC1 ENST00000276297 human ensembl 70_37 -1 known silent c.4398 p.S1466 0.997 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors DLC1 HGNC DZIP1L 199221 genome.wustl.edu 37 3 137787115 137787115 + Silent SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 3 137787115 137787115 G A SNP DZIP1L ENST00000327532 human ensembl 70_37 -1 known silent c.1710 p.P570 0.000 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ELAVL4 1996 genome.wustl.edu 37 1 50661260 50661260 + Missense_Mutation SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 1 50661260 50661260 G A SNP ELAVL4 ENST00000371821 human ensembl 70_37 +1 known missense c.551 p.R184H 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL4 HGNC ENSG00000214796 0 genome.wustl.edu 37 1 202828216 202828216 + RNA SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 1 202828216 202828216 G A SNP ENSG00000214796 ENST00000430114 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors RP11-480I12.5 Clone_based_vega_gene ESRP1 54845 genome.wustl.edu 37 8 95677406 95677406 + Missense_Mutation SNP T T G TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 8 95677406 95677406 T G SNP ESRP1 ENST00000433389 human ensembl 70_37 +1 known missense c.913 p.F305V 1.000 NULL superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC FAM98C 147965 genome.wustl.edu 37 19 38897559 38897559 + Missense_Mutation SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 19 38897559 38897559 G A SNP FAM98C ENST00000252530 human ensembl 70_37 +1 known missense c.760 p.E254K 0.208 pfam_Uncharacterised_FAM98 pfam_Uncharacterised_FAM98 - no_errors FAM98C HGNC GABPB2 126626 genome.wustl.edu 37 1 151076068 151076068 + Nonsense_Mutation SNP C C G TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 1 151076068 151076068 C G SNP GABPB2 ENST00000368918 human ensembl 70_37 +1 known nonsense c.653 p.S218* 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors GABPB2 HGNC GPX7 2882 genome.wustl.edu 37 1 53072514 53072514 + Silent SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 1 53072514 53072514 G A SNP GPX7 ENST00000361314 human ensembl 70_37 +1 known silent c.297 p.E99 1.000 pfam_Glutathione_peroxidase,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,tigrfam_Glut_perox_Gpx7 pfam_Glutathione_peroxidase,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase,tigrfam_Glut_perox_Gpx7 - no_errors GPX7 HGNC HERC2 8924 genome.wustl.edu 37 15 28463704 28463704 + Missense_Mutation SNP T T G TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 15 28463704 28463704 T G SNP HERC2 ENST00000261609 human ensembl 70_37 -1 known missense c.5959 p.S1987R 0.311 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC HRNR 388697 genome.wustl.edu 37 1 152186614 152186614 + Silent SNP C C G TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 1 152186614 152186614 C G SNP HRNR ENST00000368801 human ensembl 70_37 -1 known silent c.7491 p.S2497 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ITGA10 8515 genome.wustl.edu 37 1 145534935 145534935 + Missense_Mutation SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 1 145534935 145534935 G A SNP ITGA10 ENST00000369304 human ensembl 70_37 +1 known missense c.1838 p.R613Q 1.000 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA10 HGNC KAT2A 2648 genome.wustl.edu 37 17 40266039 40266039 + Missense_Mutation SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 17 40266039 40266039 C T SNP KAT2A ENST00000225916 human ensembl 70_37 -1 known missense c.2299 p.E767K 1.000 pirsf_Hist_acetylase_PCAF,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom - no_errors KAT2A HGNC LINC00623 728855 genome.wustl.edu 37 1 149581234 149581235 + RNA INS - - T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 1 149581234 149581235 - T INS LINC00623 ENST00000598569 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.005 - - - no_errors RP11-353N4.6 Clone_based_vega_gene MACF1 23499 genome.wustl.edu 37 1 39789874 39789874 + Missense_Mutation SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 1 39789874 39789874 G A SNP MACF1 ENST00000317713 human ensembl 70_37 +1 known missense c.4261 p.E1421K 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC MDS2 259283 genome.wustl.edu 37 1 23966894 23966895 + In_Frame_Ins INS - - AAG TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 1 23966894 23966895 - AAG INS MDS2 ENST00000374555 human ensembl 70_37 +1 known in_frame_ins c.278_279 p.96in_frame_insR 0.391:0.362 NULL NULL - no_errors MDS2 HGNC MUC2 4583 genome.wustl.edu 37 11 1079662 1079662 + Silent SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 11 1079662 1079662 G A SNP MUC2 ENST00000441003 human ensembl 70_37 +1 known silent c.879 p.K293 0.810 superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC NBEAL2 23218 genome.wustl.edu 37 3 47049909 47049909 + Missense_Mutation SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 3 47049909 47049909 C T SNP NBEAL2 ENST00000450053 human ensembl 70_37 +1 known missense c.7856 p.A2619V 0.147 superfamily_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC NDUFAF3 25915 genome.wustl.edu 37 3 49059635 49059635 + Missense_Mutation SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 3 49059635 49059635 C T SNP NDUFAF3 ENST00000326925 human ensembl 70_37 +1 known missense c.58 p.P20S 0.000 NULL pfam_NADH_Ub_cplx-1_asu_assmbl-fac3,superfamily_NADH_Ub_cplx-1_asu_assmbl-fac3 - no_errors NDUFAF3 HGNC NEAT1 283131 genome.wustl.edu 37 11 65211894 65211894 + RNA SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 11 65211894 65211894 C T SNP NEAT1 ENST00000501122 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors NEAT1 HGNC NRXN2 9379 genome.wustl.edu 37 11 64421184 64421184 + Silent SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 11 64421184 64421184 G A SNP NRXN2 ENST00000265459 human ensembl 70_37 -1 known silent c.2400 p.R800 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 NRXN2 HGNC NT5E 4907 genome.wustl.edu 37 6 86199239 86199239 + Missense_Mutation SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 6 86199239 86199239 G A SNP NT5E ENST00000257770 human ensembl 70_37 +1 known missense c.1132 p.E378K 0.991 pfam_5'-Nucleotdase_C,superfamily_5'-Nucleotdase_C pfam_5'-Nucleotdase_C,pfam_Metallo_PEstase_dom,superfamily_5'-Nucleotdase_C,prints_5_nucleotidase/apyrase - no_errors NT5E HGNC OFD1 8481 genome.wustl.edu 37 X 13775835 13775835 + Missense_Mutation SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 X 13775835 13775835 G A SNP OFD1 ENST00000340096 human ensembl 70_37 +1 known missense c.1468 p.E490K 0.801 superfamily_Lipoprotein_6 superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors OFD1 HGNC OR10AG1 282770 genome.wustl.edu 37 11 55735343 55735343 + Silent SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 11 55735343 55735343 C T SNP OR10AG1 ENST00000312345 human ensembl 70_37 -1 known silent c.597 p.T199 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 OR10AG1 HGNC OR4S1 256148 genome.wustl.edu 37 11 48327879 48327879 + Silent SNP C C G TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 11 48327879 48327879 C G SNP OR4S1 ENST00000319988 human ensembl 70_37 +1 known silent c.105 p.L35 0.102 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4S1 HGNC PCDH12 51294 genome.wustl.edu 37 5 141337076 141337076 + Missense_Mutation SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 5 141337076 141337076 C T SNP PCDH12 ENST00000231484 human ensembl 70_37 -1 known missense c.341 p.G114E 0.020 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC PCDH19 57526 genome.wustl.edu 37 X 99661981 99661981 + Missense_Mutation SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 X 99661981 99661981 C T SNP PCDH19 ENST00000373034 human ensembl 70_37 -1 known missense c.1615 p.G539S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC POMC 5443 genome.wustl.edu 37 2 25384197 25384197 + Missense_Mutation SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 2 25384197 25384197 C T SNP POMC ENST00000264708 human ensembl 70_37 -1 known missense c.557 p.R186Q 0.000 NULL pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH - no_errors POMC HGNC RICTOR 253260 genome.wustl.edu 37 5 38954960 38954960 + Silent SNP T T C TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 5 38954960 38954960 T C SNP RICTOR ENST00000296782 human ensembl 70_37 -1 known silent c.2613 p.L871 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RICTOR HGNC RLTPR 146206 genome.wustl.edu 37 16 67680869 67680869 + Missense_Mutation SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 16 67680869 67680869 G A SNP RLTPR ENST00000334583 human ensembl 70_37 +1 known missense c.604 p.G202S 0.918 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC RPS6KA6 27330 genome.wustl.edu 37 X 83351215 83351215 + Missense_Mutation SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 X 83351215 83351215 G A SNP RPS6KA6 ENST00000262752 human ensembl 70_37 -1 known missense c.1958 p.S653L 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA6 HGNC SAMD8 142891 genome.wustl.edu 37 10 76910349 76910349 + Silent SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 10 76910349 76910349 G A SNP SAMD8 ENST00000372690 human ensembl 70_37 +1 known silent c.252 p.L84 1.000 pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD8 HGNC SP3 6670 genome.wustl.edu 37 2 174774850 174774850 + Missense_Mutation SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 2 174774850 174774850 G A SNP SP3 ENST00000310015 human ensembl 70_37 -1 known missense c.2165 p.A722V 0.995 NULL pfam_Znf_C2H2,superfamily_Galactose-bd-like,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP3 HGNC SPATA20 64847 genome.wustl.edu 37 17 48625393 48625393 + RNA SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 17 48625393 48625393 C T SNP SPATA20 ENST00000511937 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors SPATA20 HGNC TAPBP 6892 genome.wustl.edu 37 6 33281175 33281175 + Missense_Mutation SNP G G C TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 6 33281175 33281175 G C SNP TAPBP ENST00000426633 human ensembl 70_37 -1 known missense c.288 p.F96L 0.000 NULL pfam_Ig_C1-set,pfscan_Ig-like,prints_Tapasin - no_errors TAPBP HGNC TTLL2 83887 genome.wustl.edu 37 6 167754940 167754940 + Missense_Mutation SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 6 167754940 167754940 C T SNP TTLL2 ENST00000239587 human ensembl 70_37 +1 known missense c.1552 p.H518Y 0.000 NULL pfam_Tub_tyr_ligase - no_errors TTLL2 HGNC XIST 7503 genome.wustl.edu 37 X 73046776 73046776 + RNA SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 X 73046776 73046776 C T SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.021 - - - no_errors XIST HGNC ZNF521 25925 genome.wustl.edu 37 18 22805422 22805422 + Silent SNP C C T TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 18 22805422 22805422 C T SNP ZNF521 ENST00000361524 human ensembl 70_37 -1 known silent c.2460 p.A820 0.619 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ZNF536 9745 genome.wustl.edu 37 19 31039377 31039377 + Missense_Mutation SNP G G A TCGA-LP-A4AU-01A-32D-A243-09 TCGA-LP-A4AU-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a53198f-ee29-4cca-8cb2-9944790bcc53 e6f97122-0a11-4a7e-9332-9aaf33cb0d38 19 31039377 31039377 G A SNP ZNF536 ENST00000355537 human ensembl 70_37 +1 known missense c.2851 p.G951R 0.250 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC