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 ACSM2A 123876 genome.wustl.edu 37 16 20481025 20481025 + Missense_Mutation SNP T T A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 16 20481025 20481025 T A SNP ACSM2A ENST00000219054 human ensembl 70_37 +1 known missense c.580 p.F194I 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ADAR 103 genome.wustl.edu 37 1 154574963 154574963 + Missense_Mutation SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 1 154574963 154574963 G A SNP ADAR ENST00000292205 human ensembl 70_37 -1 known missense c.284 p.P95L 0.268 NULL pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_Ds-RNA-bd,smart_dsRNA_A_deaminase,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC AFF1 4299 genome.wustl.edu 37 4 88036015 88036015 + Missense_Mutation SNP A A G TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 4 88036015 88036015 A G SNP AFF1 ENST00000395146 human ensembl 70_37 +1 known missense c.2030 p.K677R 0.995 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC ARHGAP27 201176 genome.wustl.edu 37 17 43482441 43482441 + Nonsense_Mutation SNP G G T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 17 43482441 43482441 G T SNP ARHGAP27 ENST00000428638 human ensembl 70_37 -1 known nonsense c.1097 p.S366* 0.000 NULL pfam_RhoGAP_dom,pfam_WW_Rsp5_WWP,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom - no_errors ARHGAP27 HGNC ARHGEF28 64283 genome.wustl.edu 37 5 73236812 73236812 + Missense_Mutation SNP G G C TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 5 73236812 73236812 G C SNP ARHGEF28 ENST00000545377 human ensembl 70_37 +1 known missense c.5170 p.A1724P 0.001 NULL pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF28 HGNC ATP8A2 51761 genome.wustl.edu 37 13 26413729 26413729 + Missense_Mutation SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 13 26413729 26413729 C T SNP ATP8A2 ENST00000381655 human ensembl 70_37 +1 known missense c.2923 p.L975F 1.000 tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,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 ATP8A2 HGNC C10orf12 26148 genome.wustl.edu 37 10 98744690 98744690 + Silent SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 10 98744690 98744690 G A SNP C10orf12 ENST00000286067 human ensembl 70_37 +1 known silent c.3543 p.L1181 0.000 NULL NULL - no_errors C10orf12 HGNC C2CD4D 100191040 genome.wustl.edu 37 1 151811322 151811322 + Silent SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 1 151811322 151811322 G A SNP C2CD4D ENST00000454109 human ensembl 70_37 -1 known silent c.144 p.I48 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors C2CD4D HGNC CBLN4 140689 genome.wustl.edu 37 20 54573720 54573720 + Missense_Mutation SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 20 54573720 54573720 G A SNP CBLN4 ENST00000064571 human ensembl 70_37 -1 known missense c.499 p.L167F 0.721 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN4 HGNC CEP104 9731 genome.wustl.edu 37 1 3759786 3759786 + Nonsense_Mutation SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 1 3759786 3759786 C T SNP CEP104 ENST00000378223 human ensembl 70_37 -1 known nonsense c.668 p.W223* 0.003 NULL superfamily_Galactose-bd-like - no_errors CEP104 HGNC COL5A1 1289 genome.wustl.edu 37 9 137620534 137620534 + Missense_Mutation SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 9 137620534 137620534 G A SNP COL5A1 ENST00000371817 human ensembl 70_37 +1 known missense c.805 p.E269K 0.999 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC CUL3 8452 genome.wustl.edu 37 2 225339094 225339095 + Splice_Site INS - - CA TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 2 225339094 225339095 - CA INS CUL3 ENST00000264414 human ensembl 70_37 -1 known splice_site_ins c.2176-2_2176-1 e16-1 1.000:1.000 - - - no_errors CUL3 HGNC CUL3 8452 genome.wustl.edu 37 2 225339095 225339095 + Splice_Site SNP T T A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 2 225339095 225339095 T A SNP CUL3 ENST00000264414 human ensembl 70_37 -1 known splice_site c.2176-2 e16-2 1.000 - - - no_errors CUL3 HGNC DDX39A 10212 genome.wustl.edu 37 19 14520640 14520640 + Missense_Mutation SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 19 14520640 14520640 C T SNP DDX39A ENST00000242776 human ensembl 70_37 -1 known missense c.778 p.G260S 0.999 smart_Helicase_ATP-bd,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX39A HGNC DNAJC1 64215 genome.wustl.edu 37 10 22048515 22048515 + Missense_Mutation SNP C C G TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 10 22048515 22048515 C G SNP DNAJC1 ENST00000376980 human ensembl 70_37 -1 known missense c.1180 p.V394L 0.213 NULL pfam_DnaJ_N,pfam_SANT/Myb,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,prints_Hsp_DnaJ,pfscan_Myb-like_dom,pfscan_DnaJ_N - no_errors DNAJC1 HGNC DSCAM 1826 genome.wustl.edu 37 21 42080507 42080507 + Silent SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 21 42080507 42080507 G A SNP DSCAM ENST00000400454 human ensembl 70_37 -1 known silent c.234 p.N78 1.000 smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAM HGNC ENC1 8507 genome.wustl.edu 37 5 73931944 73931944 + Missense_Mutation SNP C C A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 5 73931944 73931944 C A SNP ENC1 ENST00000302351 human ensembl 70_37 -1 known missense c.367 p.A123S 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors ENC1 HGNC ENSG00000210195 0 genome.wustl.edu 37 MT 15908 15908 + RNA SNP T T C TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de MT 15908 15908 T C SNP ENSG00000210195 ENST00000387460 human ensembl 70_37 +1 novel rna NULL NULL NULL - - - no_errors J01415.21 Clone_based_ensembl_gene ENSG00000213777 0 genome.wustl.edu 37 19 54007225 54007225 + RNA SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 19 54007225 54007225 C T SNP ENSG00000213777 ENST00000597004 human ensembl 70_37 +1 known rna NULL NULL 0.844 - - - no_errors CTD-2224J9.8 Clone_based_vega_gene ENSG00000235994 0 genome.wustl.edu 37 6 168377064 168377064 + RNA SNP A A G TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 6 168377064 168377064 A G SNP ENSG00000235994 ENST00000538528 human ensembl 70_37 -1 known rna NULL NULL 0.701 - - - no_errors RP3-470B24.5 Clone_based_vega_gene ENSG00000267075 0 genome.wustl.edu 37 17 20451439 20451439 + RNA SNP G G C TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 17 20451439 20451439 G C SNP ENSG00000267075 ENST00000591705 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-434D2.3 Clone_based_vega_gene ERLEC1 27248 genome.wustl.edu 37 2 54014459 54014459 + Missense_Mutation SNP A A C TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 2 54014459 54014459 A C SNP ERLEC1 ENST00000185150 human ensembl 70_37 +1 known missense c.112 p.S38R 1.000 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors ERLEC1 HGNC NUTM2G 441457 genome.wustl.edu 37 9 99700931 99700931 + Missense_Mutation SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 9 99700931 99700931 C T SNP FAM22G ENST00000372322 human ensembl 70_37 +1 known missense c.1726 p.R576W 0.001 NULL NULL - no_errors FAM22G HGNC FAM47A 158724 genome.wustl.edu 37 X 34148844 34148844 + Missense_Mutation SNP G G C TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de X 34148844 34148844 G C SNP FAM47A ENST00000346193 human ensembl 70_37 -1 known missense c.1552 p.R518G 0.005 NULL NULL - no_errors FAM47A HGNC FLT3 2322 genome.wustl.edu 37 13 28601288 28601288 + Missense_Mutation SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 13 28601288 28601288 G A SNP FLT3 ENST00000380982 human ensembl 70_37 -1 known missense c.2144 p.T715I 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors FLT3 HGNC GSTA5 221357 genome.wustl.edu 37 6 52701125 52701125 + Missense_Mutation SNP C C A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 6 52701125 52701125 C A SNP GSTA5 ENST00000284562 human ensembl 70_37 -1 known missense c.181 p.D61Y 1.000 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA5 HGNC GTF2IRD2P1 401375 genome.wustl.edu 37 7 72658807 72658807 + RNA SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 7 72658807 72658807 G A SNP GTF2IRD2P1 ENST00000425256 human ensembl 70_37 -1 known rna NULL NULL 0.650 - - - no_errors GTF2IRD2P1 HGNC HERC2P4 100289574 genome.wustl.edu 37 16 32182155 32182155 + RNA SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 16 32182155 32182155 C T SNP HERC2P4 ENST00000564730 human ensembl 70_37 -1 known rna NULL NULL 0.958 - - - no_errors HERC2P4 HGNC IGLON5 402665 genome.wustl.edu 37 19 51831094 51831094 + Silent SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 19 51831094 51831094 C T SNP IGLON5 ENST00000270642 human ensembl 70_37 +1 known silent c.876 p.R292 0.991 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors IGLON5 HGNC INTS7 25896 genome.wustl.edu 37 1 212156143 212156143 + Missense_Mutation SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 1 212156143 212156143 C T SNP INTS7 ENST00000366994 human ensembl 70_37 -1 known missense c.1007 p.S336N 0.990 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors INTS7 HGNC IQSEC2 23096 genome.wustl.edu 37 X 53296141 53296141 + RNA SNP T T A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de X 53296141 53296141 T A SNP IQSEC2 ENST00000462054 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors IQSEC2 HGNC ITGA4 3676 genome.wustl.edu 37 2 182347104 182347104 + Silent SNP T T A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 2 182347104 182347104 T A SNP ITGA4 ENST00000397033 human ensembl 70_37 +1 known silent c.858 p.I286 0.607 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC KEAP1 9817 genome.wustl.edu 37 19 10602878 10602878 + Missense_Mutation SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 19 10602878 10602878 G A SNP KEAP1 ENST00000171111 human ensembl 70_37 -1 known missense c.700 p.R234W 0.994 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KEAP1 HGNC KIAA0020 9933 genome.wustl.edu 37 9 2804207 2804207 + RNA SNP G G T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 9 2804207 2804207 G T SNP KIAA0020 ENST00000382032 human ensembl 70_37 -1 known rna NULL NULL 0.010 - - - no_errors KIAA0020 HGNC KLHL33 123103 genome.wustl.edu 37 14 20897170 20897170 + Silent SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 14 20897170 20897170 G A SNP KLHL33 ENST00000344581 human ensembl 70_37 -1 known silent c.1440 p.L480 0.015 smart_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BACK,smart_Kelch_1 - no_errors KLHL33 HGNC LINC00305 221241 genome.wustl.edu 37 18 61747526 61747526 + RNA SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 18 61747526 61747526 G A SNP LINC00305 ENST00000323355 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00305 HGNC LOC158572 158572 genome.wustl.edu 37 X 49642957 49642957 + RNA DEL T T - TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de X 49642957 49642957 T - DEL LOC158572 ENST00000437322 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AF238380.5 Clone_based_vega_gene LOC400553 400553 genome.wustl.edu 37 16 88124572 88124572 + RNA SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 16 88124572 88124572 C T SNP LOC400553 ENST00000378417 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-863P13.4 Clone_based_vega_gene LOC440993 440993 genome.wustl.edu 37 3 195400814 195400815 + Splice_Site INS - - TT TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 3 195400814 195400815 - TT INS LOC440993 ENST00000414625 human ensembl 70_37 +1 known splice_site_ins c.NULL NULL 0.999:1.000 - - - no_errors AC069513.3 Clone_based_vega_gene MAP3K11 4296 genome.wustl.edu 37 11 65375232 65375232 + Silent SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 11 65375232 65375232 C T SNP MAP3K11 ENST00000309100 human ensembl 70_37 -1 known silent c.1125 p.Q375 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,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,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 MAP3K11 HGNC MCF2L 23263 genome.wustl.edu 37 13 113720424 113720424 + Missense_Mutation SNP C C G TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 13 113720424 113720424 C G SNP MCF2L ENST00000375604 human ensembl 70_37 +1 known missense c.992 p.A331G 0.010 NULL pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC MEGF9 1955 genome.wustl.edu 37 9 123374761 123374761 + Missense_Mutation SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 9 123374761 123374761 C T SNP MEGF9 ENST00000426959 human ensembl 70_37 -1 known missense c.1111 p.E371K 0.998 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF9 HGNC METTL12 751071 genome.wustl.edu 37 11 62432845 62432845 + RNA SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 11 62432845 62432845 G A SNP METTL12 ENST00000594728 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors METTL12 HGNC KMT2D 8085 genome.wustl.edu 37 12 49432029 49432030 + Frame_Shift_Ins INS - - G TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 12 49432029 49432030 - G INS MLL2 ENST00000301067 human ensembl 70_37 -1 known frame_shift_ins c.9110_9109 p.H3037fs 1.000:1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC MT-ATP6 4508 genome.wustl.edu 37 MT 8715 8715 + Silent SNP T T C TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de MT 8715 8715 T C SNP MT-ATP6 ENST00000361899 human ensembl 70_37 +1 known silent c.189 p.T63 NULL pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu - no_errors MT-ATP6 HGNC MT-ND5 4540 genome.wustl.edu 37 MT 12552 12552 + Silent SNP A A G TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de MT 12552 12552 A G SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known silent c.216 p.Q72 NULL pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC MT-ND5 4540 genome.wustl.edu 37 MT 12562 12562 + Missense_Mutation SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de MT 12562 12562 C T SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known missense c.226 p.L76F NULL pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC MYL1 4632 genome.wustl.edu 37 2 211179766 211179766 + Frame_Shift_Del DEL T T - TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 2 211179766 211179766 T - DEL MYL1 ENST00000352451 human ensembl 70_37 -1 known frame_shift_del c.1 p.M1fs 1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MYL1 HGNC NACAD 23148 genome.wustl.edu 37 7 45123257 45123257 + Missense_Mutation SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 7 45123257 45123257 G A SNP NACAD ENST00000490531 human ensembl 70_37 -1 known missense c.2522 p.A841V 0.000 NULL pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACAD HGNC NPIPB7 440350 genome.wustl.edu 37 16 28468257 28468257 + Missense_Mutation SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 16 28468257 28468257 G A SNP NPIPL1 ENST00000452313 human ensembl 70_37 -1 novel missense c.733 p.R245C 0.146 pfam_NPIP pfam_NPIP - no_errors NPIPL1 HGNC NPIPB15 440348 genome.wustl.edu 37 16 74425961 74425961 + Missense_Mutation SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 16 74425961 74425961 G A SNP NPIPL2 ENST00000429990 human ensembl 70_37 +1 known missense c.1315 p.A439T 0.974 NULL pfam_NPIP - no_errors NPIPL2 HGNC NYX 60506 genome.wustl.edu 37 X 41333923 41333923 + Missense_Mutation SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de X 41333923 41333923 C T SNP NYX ENST00000342595 human ensembl 70_37 +1 known missense c.1217 p.A406V 0.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors NYX HGNC OAZ2 4947 genome.wustl.edu 37 15 64980915 64980915 + Silent SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 15 64980915 64980915 G A SNP OAZ2 ENST00000326005 human ensembl 70_37 -1 known silent c.558 p.S186 0.936 NULL pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase - no_errors OAZ2 HGNC OR10G8 219869 genome.wustl.edu 37 11 123901166 123901166 + Silent SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 11 123901166 123901166 G A SNP OR10G8 ENST00000431524 human ensembl 70_37 +1 known silent c.837 p.T279 0.051 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 OR10G8 HGNC OR2T8 343172 genome.wustl.edu 37 1 248084909 248084909 + Missense_Mutation SNP T T G TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 1 248084909 248084909 T G SNP OR2T8 ENST00000319968 human ensembl 70_37 +1 known missense c.590 p.M197R 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T8 HGNC OR8K3 219473 genome.wustl.edu 37 11 56085805 56085805 + Missense_Mutation SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 11 56085805 56085805 C T SNP OR8K3 ENST00000312711 human ensembl 70_37 +1 known missense c.23 p.T8M 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K3 HGNC PCDHGA2 56113 genome.wustl.edu 37 5 140720392 140720392 + Silent SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 5 140720392 140720392 G A SNP PCDHGA2 ENST00000394576 human ensembl 70_37 +1 known silent c.1854 p.S618 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA2 HGNC PEAR1 375033 genome.wustl.edu 37 1 156883832 156883832 + Missense_Mutation SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 1 156883832 156883832 C T SNP PEAR1 ENST00000292357 human ensembl 70_37 +1 known missense c.2902 p.R968W 0.015 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors PEAR1 HGNC PER3 8863 genome.wustl.edu 37 1 7897139 7897139 + Frame_Shift_Del DEL A A - TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 1 7897139 7897139 A - DEL PER3 ENST00000361923 human ensembl 70_37 +1 known frame_shift_del c.3452 p.K1152fs 0.998 pfam_Period_circadian-like_C pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS - no_errors PER3 HGNC PLD1 5337 genome.wustl.edu 37 3 171406586 171406586 + Silent SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 3 171406586 171406586 C T SNP PLD1 ENST00000351298 human ensembl 70_37 -1 known silent c.1419 p.S473 0.054 pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_PLipase_D/transphosphatidylase pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC PLEC 5339 genome.wustl.edu 37 8 144995513 144995513 + Missense_Mutation SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 8 144995513 144995513 C T SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.8887 p.V2963M 1.000 pfam_Plectin_repeat,smart_Plectin_repeat 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 PTAFR 5724 genome.wustl.edu 37 1 28476617 28476617 + Nonsense_Mutation SNP C C A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 1 28476617 28476617 C A SNP PTAFR ENST00000305392 human ensembl 70_37 -1 known nonsense c.916 p.E306* 0.523 prints_PAF_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_PAF_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors PTAFR HGNC RALGAPA2 57186 genome.wustl.edu 37 20 20621380 20621380 + Missense_Mutation SNP T T A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 20 20621380 20621380 T A SNP RALGAPA2 ENST00000202677 human ensembl 70_37 -1 known missense c.515 p.E172V 1.000 NULL pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPA2 HGNC RPS6KA2 6196 genome.wustl.edu 37 6 166826326 166826326 + Missense_Mutation SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 6 166826326 166826326 G A SNP RPS6KA2 ENST00000510118 human ensembl 70_37 -1 known missense c.2201 p.P734L 0.997 superfamily_Kinase-like_dom,pirsf_Ribosomal_S6_kinase_II pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA2 HGNC SHANK2 22941 genome.wustl.edu 37 11 70333726 70333726 + Missense_Mutation SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 11 70333726 70333726 G A SNP SHANK2 ENST00000338508 human ensembl 70_37 -1 known missense c.2675 p.P892L 0.996 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC SNORD115-32 100033806 genome.wustl.edu 37 15 25474139 25474139 + RNA SNP G G T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 15 25474139 25474139 G T SNP SNORD115-32 ENST00000364079 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORD115-32 HGNC SOGA3 387104 genome.wustl.edu 37 6 127797184 127797184 + Missense_Mutation SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 6 127797184 127797184 C T SNP SOGA3 ENST00000368268 human ensembl 70_37 -1 known missense c.1987 p.V663M 1.000 pfam_DUF3166 pfam_DUF3166 - no_errors SOGA3 HGNC SYT4 6860 genome.wustl.edu 37 18 40853812 40853812 + Silent SNP G G T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 18 40853812 40853812 G T SNP SYT4 ENST00000255224 human ensembl 70_37 -1 known silent c.582 p.I194 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin - no_errors SYT4 HGNC TENM2 57451 genome.wustl.edu 37 5 167674346 167674346 + Silent SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 5 167674346 167674346 C T SNP TENM2 ENST00000518659 human ensembl 70_37 +1 known silent c.6402 p.V2134 1.000 superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC TMEM98 26022 genome.wustl.edu 37 17 31267987 31267987 + Silent SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 17 31267987 31267987 C T SNP TMEM98 ENST00000394642 human ensembl 70_37 +1 known silent c.657 p.F219 1.000 NULL NULL - no_errors TMEM98 HGNC TTLL5 23093 genome.wustl.edu 37 14 76420881 76420882 + RNA INS - - T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 14 76420881 76420882 - T INS TTLL5 ENST00000554972 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.005 - - - no_errors TTLL5 HGNC UBR4 23352 genome.wustl.edu 37 1 19480331 19480331 + Silent SNP C C T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 1 19480331 19480331 C T SNP UBR4 ENST00000375267 human ensembl 70_37 -1 known silent c.6561 p.P2187 0.490 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC WDTC1 23038 genome.wustl.edu 37 1 27633121 27633122 + RNA INS - - C TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 1 27633121 27633122 - C INS WDTC1 ENST00000491239 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.002 - - - no_errors WDTC1 HGNC XKR4 114786 genome.wustl.edu 37 8 56015526 56015526 + Missense_Mutation SNP C C G TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 8 56015526 56015526 C G SNP XKR4 ENST00000327381 human ensembl 70_37 +1 known missense c.478 p.Q160E 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR4 HGNC ZMIZ1 57178 genome.wustl.edu 37 10 81070690 81070690 + Missense_Mutation SNP G G A TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 10 81070690 81070690 G A SNP ZMIZ1 ENST00000334512 human ensembl 70_37 +1 known missense c.2845 p.A949T 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ZNF491 126069 genome.wustl.edu 37 19 11917970 11917971 + Frame_Shift_Ins INS - - T TCGA-JW-A5VK-01A-11D-A28B-09 TCGA-JW-A5VK-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0d7c75a3-8a45-4361-b159-6644b42f2ee1 9c42d657-7aff-46d2-a208-bca4a24027de 19 11917970 11917971 - T INS ZNF491 ENST00000323169 human ensembl 70_37 +1 known frame_shift_ins c.1202_1203 p.E402fs 0.047:0.010 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF491 HGNC