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 ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ACAP2 0 genome.wustl.edu 37 3 195022818 195022818 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 3 195022818 195022818 G T SNP ACAP2 ENST00000326793 human ensembl 74_37 -1 known missense c.1202 p.A401E 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP 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 ACAP2 HGNC ENSG00000114331 37 0 0.00 31 2 6.06 ADAM21 0 genome.wustl.edu 37 14 70926242 70926242 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 14 70926242 70926242 G T SNP ADAM21 ENST00000267499 human ensembl 74_37 +1 known missense c.2026 p.A676S 0.922 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 67 0 0.00 41 3 6.82 AGAP3 0 genome.wustl.edu 37 7 150819833 150819833 + Missense_Mutation SNP T T C TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 7 150819833 150819833 T C SNP AGAP3 ENST00000473312 human ensembl 74_37 +1 known missense c.1150 p.F384L 1.000 NULL pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors AGAP3 HGNC ENSG00000133612 tier1 - - 96 0 0.00 55 30 35.29 AHSP 0 genome.wustl.edu 37 16 31539471 31539471 + Missense_Mutation SNP T T A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 16 31539471 31539471 T A SNP AHSP ENST00000302312 human ensembl 74_37 +1 known missense c.11 p.L4H 0.960 superfamily_A_Hb_stabilising_prot pfam_A_Hb_stabilising_prot,superfamily_A_Hb_stabilising_prot - no_errors AHSP HGNC ENSG00000169877 tier1 - - 43 0 0.00 25 8 24.24 AKR1CL1 0 genome.wustl.edu 37 10 5199923 5199923 + Silent SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 10 5199923 5199923 G T SNP AKR1CL1 ENST00000473890 human ensembl 74_37 -1 novel silent c.243 p.G81 0.332 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1CL1 HGNC ENSG00000196326 tier1 - - 54 0 0.00 70 4 5.41 ALOX5AP 0 genome.wustl.edu 37 13 31338241 31338241 + Nonstop_Mutation SNP T T A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 13 31338241 31338241 T A SNP ALOX5AP ENST00000380490 human ensembl 74_37 +1 known nonstop c.484 p.*162K 0.989 NULL pfam_Membr-assoc_MAPEG,prints_5_LipOase_AP - no_errors ALOX5AP HGNC ENSG00000132965 tier1 - - 87 0 0.00 20 40 66.67 ANKRD33B 0 genome.wustl.edu 37 5 10649560 10649560 + Missense_Mutation SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 5 10649560 10649560 G A SNP ANKRD33B ENST00000296657 human ensembl 74_37 +1 novel missense c.820 p.A274T 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD33B HGNC ENSG00000164236 tier1 - - 32 0 0.00 7 17 70.83 ANO5 0 genome.wustl.edu 37 11 22279255 22279255 + Silent SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 11 22279255 22279255 G A SNP ANO5 ENST00000324559 human ensembl 74_37 +1 known silent c.1362 p.T454 0.038 pfam_Anoctamin pfam_Anoctamin - no_errors ANO5 HGNC ENSG00000171714 tier1 - - 69 0 0.00 69 25 26.60 ANP32AP1 0 genome.wustl.edu 37 15 35530357 35530357 + RNA DEL T T - TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 15 35530357 35530357 T - DEL ANP32AP1 ENST00000560832 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors ANP32AP1 HGNC ENSG00000259516 tier1 41 0 0.00 30 2 6.25 ANXA5 0 genome.wustl.edu 37 4 122607522 122607522 + Silent SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 4 122607522 122607522 G T SNP ANXA5 ENST00000296511 human ensembl 74_37 -1 known silent c.15 p.L5 0.199 NULL pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinV,prints_AnnexinIV - no_errors ANXA5 HGNC ENSG00000164111 tier1 - - 42 0 0.00 22 3 12.00 APC 0 genome.wustl.edu 37 5 112174268 112174268 + Missense_Mutation SNP A A C TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 5 112174268 112174268 A C SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.2977 p.K993Q 1.000 NULL 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 ENSG00000134982 tier1 - - 49 0 0.00 31 13 29.55 ARAP2 0 genome.wustl.edu 37 4 36212335 36212335 + Silent SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 4 36212335 36212335 G A SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known silent c.1164 p.S388 0.810 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 tier1 - - 23 0 0.00 25 5 16.67 ARHGAP20 0 genome.wustl.edu 37 11 110501395 110501395 + Silent SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 11 110501395 110501395 C T SNP ARHGAP20 ENST00000260283 human ensembl 74_37 -1 known silent c.309 p.R103 0.635 smart_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom - no_errors ARHGAP20 HGNC ENSG00000137727 46 0 0.00 47 3 6.00 ARHGEF10L 0 genome.wustl.edu 37 1 18021674 18021674 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 1 18021674 18021674 C T SNP ARHGEF10L ENST00000361221 human ensembl 74_37 +1 known missense c.3206 p.T1069I 1.000 superfamily_WD40_repeat_dom pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 77 0 0.00 62 4 6.06 ARID2 0 genome.wustl.edu 37 12 46211623 46211623 + Frame_Shift_Del DEL C C - TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 12 46211623 46211623 C - DEL ARID2 ENST00000334344 human ensembl 74_37 +1 known frame_shift_del c.589 p.P197fs 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 tier1 27 0 0.00 5 19 79.17 ASXL3 0 genome.wustl.edu 37 18 31326085 31326085 + Silent SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 18 31326085 31326085 C T SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known silent c.6273 p.S2091 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 29 0 0.00 28 3 9.68 ATXN3 0 genome.wustl.edu 37 14 92563080 92563080 + Missense_Mutation SNP C C G TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 14 92563080 92563080 C G SNP ATXN3 ENST00000545170 human ensembl 74_37 -1 known missense c.127 p.E43Q 1.000 pfam_Josephin,pfscan_Josephin pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin - no_errors ATXN3 HGNC ENSG00000066427 tier1 - - 48 0 0.00 62 4 5.97 BACH1 0 genome.wustl.edu 37 21 30714989 30714989 + Silent SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 21 30714989 30714989 C T SNP BACH1 ENST00000286800 human ensembl 74_37 +1 known silent c.2046 p.P682 0.008 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH1 HGNC ENSG00000156273 tier1 - - 28 0 0.00 12 5 29.41 BIRC2 0 genome.wustl.edu 37 11 102233653 102233653 + Missense_Mutation SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 11 102233653 102233653 G A SNP BIRC2 ENST00000227758 human ensembl 74_37 +1 known missense c.1022 p.G341D 0.982 NULL pfam_BIR,pfam_CARD,superfamily_DEATH-like_dom,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC2 HGNC ENSG00000110330 tier1 - - 31 0 0.00 24 11 31.43 BIVM 0 genome.wustl.edu 37 13 103473443 103473443 + Missense_Mutation SNP C C A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 13 103473443 103473443 C A SNP BIVM ENST00000257336 human ensembl 74_37 +1 known missense c.662 p.S221Y 1.000 NULL NULL - no_errors BIVM HGNC ENSG00000134897 tier1 - - 62 0 0.00 19 31 62.00 BRINP1 0 genome.wustl.edu 37 9 122075482 122075482 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 9 122075482 122075482 G T SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known missense c.152 p.S51Y 1.000 pfam_MACPF pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 47 0 0.00 30 2 6.25 BTAF1 0 genome.wustl.edu 37 10 93778666 93778666 + Missense_Mutation SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 10 93778666 93778666 G A SNP BTAF1 ENST00000265990 human ensembl 74_37 +1 known missense c.4837 p.A1613T 1.000 superfamily_P-loop_NTPase pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors BTAF1 HGNC ENSG00000095564 tier1 - - 52 0 0.00 46 4 8.00 C12orf54 0 genome.wustl.edu 37 12 48882278 48882279 + RNA INS - - AC TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 12 48882278 48882279 - AC INS C12orf54 ENST00000548913 human ensembl 74_37 +1 known rna NULL NULL 0.033:0.007 - - - no_errors C12orf54 HGNC ENSG00000177627 tier1 13 0 0.00 31 9 22.50 C18orf42 0 genome.wustl.edu 37 18 5145754 5145754 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 18 5145754 5145754 C T SNP C18orf42 ENST00000434239 human ensembl 74_37 -1 known missense c.17 p.G6D 1.000 NULL pfam_Kinase-A_anchor_RI-RII-bd_dom - no_errors C18orf42 HGNC ENSG00000231824 tier1 - - 37 0 0.00 20 19 48.72 C19orf68 0 genome.wustl.edu 37 19 48698086 48698086 + Silent SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 19 48698086 48698086 G A SNP C19orf68 ENST00000328759 human ensembl 74_37 +1 known silent c.765 p.A255 0.702 NULL NULL - no_errors C19orf68 HGNC ENSG00000185453 41 0 0.00 31 20 38.46 C22orf26 0 genome.wustl.edu 37 22 46449698 46449698 + Silent SNP C C A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 22 46449698 46449698 C A SNP C22orf26 ENST00000333761 human ensembl 74_37 -1 known silent c.276 p.R92 0.997 NULL NULL - no_errors C22orf26 HGNC ENSG00000182257 29 0 0.00 15 5 25.00 C4orf50 0 genome.wustl.edu 37 4 5990473 5990473 + Silent SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 4 5990473 5990473 C T SNP C4orf50 ENST00000531445 human ensembl 74_37 -1 known silent c.1026 p.E342 0.176 NULL NULL - no_errors C4orf50 HGNC ENSG00000181215 tier1 - - 51 0 0.00 24 7 22.58 C7orf72 0 genome.wustl.edu 37 7 50135836 50135836 + Missense_Mutation SNP A A C TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 7 50135836 50135836 A C SNP C7orf72 ENST00000297001 human ensembl 74_37 +1 known missense c.155 p.N52T 0.020 NULL NULL - no_errors C7orf72 HGNC ENSG00000164500 tier1 - - 67 0 0.00 41 32 43.84 C9orf156 0 genome.wustl.edu 37 9 100684711 100684711 + Missense_Mutation SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 9 100684711 100684711 G A SNP C9orf156 ENST00000375119 human ensembl 74_37 -1 known missense c.65 p.A22V 0.579 NULL pfam_UPF0066,superfamily_UPF0066_YaeB,tigrfam_UPF0066 - no_errors C9orf156 HGNC ENSG00000136932 tier1 - - 153 0 0.00 46 82 63.57 CA11 0 genome.wustl.edu 37 19 49142863 49142863 + Missense_Mutation SNP T T G TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 19 49142863 49142863 T G SNP CA11 ENST00000084798 human ensembl 74_37 -1 known missense c.583 p.N195H 0.999 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA11 HGNC ENSG00000063180 tier1 - - 54 0 0.00 50 5 9.09 CABIN1 0 genome.wustl.edu 37 22 24479285 24479285 + Silent SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 22 24479285 24479285 C T SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known silent c.2853 p.Y951 0.999 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 tier1 - - 25 0 0.00 15 3 16.67 CAPN11 0 genome.wustl.edu 37 6 44145038 44145038 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 6 44145038 44145038 G T SNP CAPN11 ENST00000398776 human ensembl 74_37 +1 known missense c.1297 p.D433Y 0.902 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN11 HGNC ENSG00000137225 tier1 - - 26 0 0.00 29 4 12.12 CASP5 0 genome.wustl.edu 37 11 104878041 104878041 + Frame_Shift_Del DEL T T - TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 11 104878041 104878041 T - DEL CASP5 ENST00000393141 human ensembl 74_37 -1 known frame_shift_del c.241 p.T81fs 0.000 pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP5 HGNC ENSG00000137757 tier1 41 0 0.00 39 4 9.30 CASP6 0 genome.wustl.edu 37 4 110610548 110610548 + Nonsense_Mutation SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 4 110610548 110610548 G A SNP CASP6 ENST00000265164 human ensembl 74_37 -1 known nonsense c.820 p.Q274* 1.000 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP6 HGNC ENSG00000138794 tier1 - - 59 0 0.00 40 16 28.57 CC2D2A 0 genome.wustl.edu 37 4 15565108 15565108 + Nonsense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 4 15565108 15565108 C T SNP CC2D2A ENST00000413206 human ensembl 74_37 +1 known nonsense c.3145 p.R1049* 0.994 superfamily_C2_dom,smart_C2_dom superfamily_C2_dom,smart_C2_dom - no_errors CC2D2A HGNC ENSG00000048342 37 0 0.00 34 2 5.56 CCDC126 0 genome.wustl.edu 37 7 23650854 23650855 + RNA INS - - T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 7 23650854 23650855 - T INS CCDC126 ENST00000486109 human ensembl 74_37 +1 putative rna NULL NULL 0.001:0.020 - - - no_errors CCDC126 HGNC ENSG00000169193 tier1 24 0 0.00 28 4 12.50 CCDC175 0 genome.wustl.edu 37 14 59978519 59978519 + Nonsense_Mutation SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 14 59978519 59978519 G A SNP CCDC175 ENST00000281581 human ensembl 74_37 -1 known nonsense c.2101 p.Q701* 0.005 NULL superfamily_Prefoldin - no_errors CCDC175 HGNC ENSG00000151838 tier1 - - 72 0 0.00 71 4 5.33 CCP110 0 genome.wustl.edu 37 16 19556498 19556498 + Missense_Mutation SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 16 19556498 19556498 G A SNP CCP110 ENST00000381396 human ensembl 74_37 +1 known missense c.2669 p.R890Q 1.000 NULL NULL - no_errors CCP110 HGNC ENSG00000103540 38 0 0.00 33 2 5.71 CDAN1 0 genome.wustl.edu 37 15 43016780 43016780 + Missense_Mutation SNP A A G TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 15 43016780 43016780 A G SNP CDAN1 ENST00000356231 human ensembl 74_37 -1 known missense c.3593 p.L1198P 0.668 NULL NULL - no_errors CDAN1 HGNC ENSG00000140326 67 0 0.00 54 3 5.26 CDCA5 0 genome.wustl.edu 37 11 64847073 64847073 + Missense_Mutation SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 11 64847073 64847073 G A SNP CDCA5 ENST00000275517 human ensembl 74_37 -1 known missense c.430 p.R144C 0.993 pfam_Sororin pfam_Sororin - no_errors CDCA5 HGNC ENSG00000146670 tier1 - - 41 0 0.00 42 10 19.23 CDKN2A 0 genome.wustl.edu 37 9 21974724 21974724 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 9 21974724 21974724 C T SNP CDKN2A ENST00000446177 human ensembl 74_37 -1 known missense c.103 p.G35R 0.998 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2A HGNC ENSG00000147889 46 0 0.00 37 4 9.76 CELA3A 0 genome.wustl.edu 37 1 22333419 22333419 + Silent SNP T T C TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 1 22333419 22333419 T C SNP CELA3A ENST00000290122 human ensembl 74_37 +1 known silent c.411 p.D137 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CELA3A HGNC ENSG00000142789 tier1 rs138658162 - 89 0 0.00 41 12 22.64 CHGA 0 genome.wustl.edu 37 14 93398760 93398760 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 14 93398760 93398760 C T SNP CHGA ENST00000216492 human ensembl 74_37 +1 known missense c.854 p.A285V 0.028 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGA HGNC ENSG00000100604 tier1 - - 123 0 0.00 79 13 14.13 CHST15 0 genome.wustl.edu 37 10 125771863 125771863 + Missense_Mutation SNP T T A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 10 125771863 125771863 T A SNP CHST15 ENST00000346248 human ensembl 74_37 -1 known missense c.1481 p.Q494L 0.999 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors CHST15 HGNC ENSG00000182022 51 0 0.00 33 3 8.33 CLPTM1L 0 genome.wustl.edu 37 5 1330411 1330411 + Missense_Mutation SNP A A T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 5 1330411 1330411 A T SNP CLPTM1L ENST00000320895 human ensembl 74_37 -1 known missense c.1064 p.V355D 0.249 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1L HGNC ENSG00000049656 tier1 - - 76 0 0.00 42 4 8.70 CMTM5 0 genome.wustl.edu 37 14 23848315 23848315 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 14 23848315 23848315 G T SNP CMTM5 ENST00000339180 human ensembl 74_37 +1 known missense c.556 p.A186S 1.000 NULL NULL - no_errors CMTM5 HGNC ENSG00000166091 tier1 - - 60 0 0.00 60 21 25.61 CNGA3 0 genome.wustl.edu 37 2 99013128 99013128 + Nonsense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 2 99013128 99013128 C T SNP CNGA3 ENST00000272602 human ensembl 74_37 +1 known nonsense c.1495 p.R499* 0.999 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA3 HGNC ENSG00000144191 tier1 - - 20 0 0.00 22 4 15.38 COL14A1 0 genome.wustl.edu 37 8 121256240 121256240 + Silent SNP A A G TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 8 121256240 121256240 A G SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known silent c.2472 p.G824 0.986 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 tier1 - - 33 0 0.00 18 6 25.00 COL6A1 0 genome.wustl.edu 37 21 47421897 47421897 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 21 47421897 47421897 C T SNP COL6A1 ENST00000361866 human ensembl 74_37 +1 known missense c.1979 p.A660V 0.105 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC ENSG00000142156 tier1 - - 17 0 0.00 5 11 68.75 CPA3 0 genome.wustl.edu 37 3 148583320 148583320 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 3 148583320 148583320 G T SNP CPA3 ENST00000296046 human ensembl 74_37 +1 known missense c.129 p.L43F 0.983 pfam_Prot_inh_M14A,superfamily_Prot_inh_propept pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA3 HGNC ENSG00000163751 34 0 0.00 38 2 5.00 CSF1R 0 genome.wustl.edu 37 5 149449556 149449556 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 5 149449556 149449556 G T SNP CSF1R ENST00000286301 human ensembl 74_37 -1 known missense c.1390 p.H464N 0.997 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors CSF1R HGNC ENSG00000182578 tier1 - - 50 0 0.00 40 4 9.09 CTNND1 0 genome.wustl.edu 37 11 57575738 57575738 + Nonsense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 11 57575738 57575738 C T SNP CTNND1 ENST00000399050 human ensembl 74_37 +1 known nonsense c.2065 p.Q689* 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 tier1 - - 57 0 0.00 43 17 28.33 CUL9 0 genome.wustl.edu 37 6 43188266 43188266 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 6 43188266 43188266 G T SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known missense c.6352 p.A2118S 0.972 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 tier1 - - 53 0 0.00 60 4 6.15 CWH43 0 genome.wustl.edu 37 4 48996764 48996764 + Nonsense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 4 48996764 48996764 G T SNP CWH43 ENST00000226432 human ensembl 74_37 +1 known nonsense c.640 p.G214* 1.000 NULL superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC ENSG00000109182 tier1 - - 79 0 0.00 87 5 5.43 CYP2S1 0 genome.wustl.edu 37 19 41704729 41704729 + Missense_Mutation SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 19 41704729 41704729 G A SNP CYP2S1 ENST00000310054 human ensembl 74_37 +1 known missense c.770 p.G257E 0.025 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B - no_errors CYP2S1 HGNC ENSG00000167600 tier1 - - 50 0 0.00 32 18 36.00 DAAM2 0 genome.wustl.edu 37 6 39847239 39847239 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 6 39847239 39847239 G T SNP DAAM2 ENST00000274867 human ensembl 74_37 +1 known missense c.1831 p.V611L 0.999 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DAAM2 HGNC ENSG00000146122 67 0 0.00 60 4 6.25 DCHS2 0 genome.wustl.edu 37 4 155219058 155219058 + Missense_Mutation SNP C C A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 4 155219058 155219058 C A SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.5043 p.K1681N 0.000 smart_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 44 0 0.00 26 10 27.78 DHX58 0 genome.wustl.edu 37 17 40257821 40257821 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 17 40257821 40257821 G T SNP DHX58 ENST00000251642 human ensembl 74_37 -1 known missense c.1184 p.T395N 0.002 superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX58 HGNC ENSG00000108771 20 0 0.00 38 4 9.52 DLG1 0 genome.wustl.edu 37 3 196863547 196863547 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 3 196863547 196863547 G T SNP DLG1 ENST00000346964 human ensembl 74_37 -1 known missense c.985 p.L329I 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG1 HGNC ENSG00000075711 tier1 - - 39 0 0.00 35 4 10.26 DLX3 0 genome.wustl.edu 37 17 48069206 48069206 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 17 48069206 48069206 C T SNP DLX3 ENST00000434704 human ensembl 74_37 -1 known missense c.539 p.R180H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX3 HGNC ENSG00000064195 tier1 - - 29 0 0.00 31 16 34.04 DNAH5 0 genome.wustl.edu 37 5 13885264 13885264 + Silent SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 5 13885264 13885264 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known silent c.2817 p.T939 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 39 0 0.00 17 14 45.16 DNAH5 0 genome.wustl.edu 37 5 13922278 13922278 + Missense_Mutation SNP A A T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 5 13922278 13922278 A T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.598 p.L200M 0.991 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 50 0 0.00 27 4 12.90 DNAH6 0 genome.wustl.edu 37 2 84800703 84800703 + Missense_Mutation SNP A A T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 2 84800703 84800703 A T SNP DNAH6 ENST00000237449 human ensembl 74_37 +1 known missense c.1916 p.Q639L 0.946 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 33 0 0.00 32 2 5.88 DNAH9 0 genome.wustl.edu 37 17 11642318 11642318 + Missense_Mutation SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 17 11642318 11642318 G A SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.5936 p.R1979H 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 68 0 0.00 56 4 6.67 DNM1P47 0 genome.wustl.edu 37 15 102304789 102304791 + RNA DEL GAA GAA - TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 15 102304789 102304791 GAA - DEL DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.066:0.054:0.028 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 68 0 0.00 27 16 37.21 DPP6 0 genome.wustl.edu 37 7 154595588 154595588 + Silent SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 7 154595588 154595588 C T SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known silent c.1422 p.N474 0.697 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 45 0 0.00 37 4 9.52 DYNC2H1 0 genome.wustl.edu 37 11 103027166 103027166 + Missense_Mutation SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 11 103027166 103027166 G A SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.3794 p.R1265H 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 rs200635842 - 54 0 0.00 49 6 10.91 EBAG9 0 genome.wustl.edu 37 8 110569206 110569206 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 8 110569206 110569206 G T SNP EBAG9 ENST00000337573 human ensembl 74_37 +1 known missense c.364 p.D122Y 1.000 pirsf_Cancer-assoc_antigen_RCAS1 pirsf_Cancer-assoc_antigen_RCAS1 - no_errors EBAG9 HGNC ENSG00000147654 tier1 - - 67 0 0.00 67 4 5.63 ECHS1 0 genome.wustl.edu 37 10 135183459 135183459 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 10 135183459 135183459 G T SNP ECHS1 ENST00000368547 human ensembl 74_37 -1 known missense c.363 p.D121E 0.971 pfam_Crotonase_core_superfam pfam_Crotonase_core_superfam - no_errors ECHS1 HGNC ENSG00000127884 tier1 - - 58 0 0.00 45 5 10.00 ELL3 0 genome.wustl.edu 37 15 44066533 44066533 + Silent SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 15 44066533 44066533 G A SNP ELL3 ENST00000319359 human ensembl 74_37 -1 known silent c.885 p.H295 0.952 pfam_Occludin_RNApol2_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL3 HGNC ENSG00000128886 tier1 - - 47 0 0.00 48 4 7.69 ELMO1 0 genome.wustl.edu 37 7 37256263 37256263 + Missense_Mutation SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 7 37256263 37256263 G A SNP ELMO1 ENST00000310758 human ensembl 74_37 -1 known missense c.818 p.S273F 1.000 pfam_DUF3361 pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 tier1 - - 42 0 0.00 9 24 72.73 ENSG00000204791 0 genome.wustl.edu 37 8 145106131 145106131 + RNA SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 8 145106131 145106131 C T SNP ENSG00000204791 ENST00000528912 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-3065J16.6 Clone_based_vega_gene ENSG00000204791 tier1 - - 39 0 0.00 19 23 54.76 ENSG00000216127 0 genome.wustl.edu 37 5 171866687 171866688 + RNA DEL CA CA - TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 5 171866687 171866688 CA - DEL ENSG00000216127 ENST00000401308 human ensembl 74_37 -1 novel rna NULL NULL 0.026:0.017 - - - no_errors AC011407.1 Clone_based_ensembl_gene ENSG00000216127 tier1 29 0 0.00 19 4 17.39 ENSG00000225411 0 genome.wustl.edu 37 9 68400495 68400495 + RNA SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 9 68400495 68400495 C T SNP ENSG00000225411 ENST00000417843 human ensembl 74_37 -1 known rna NULL NULL 0.113 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 tier1 - - 16 0 0.00 6 5 45.45 ENSG00000233175 0 genome.wustl.edu 37 17 43315899 43315899 + RNA SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 17 43315899 43315899 G T SNP ENSG00000233175 ENST00000587534 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CTD-2020K17.3 Clone_based_vega_gene ENSG00000233175 tier1 - - 65 0 0.00 72 4 5.26 ENSG00000236233 0 genome.wustl.edu 37 9 67793766 67793766 + RNA DEL A A - TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 9 67793766 67793766 A - DEL ENSG00000236233 ENST00000315762 human ensembl 74_37 +1 known rna NULL NULL 0.015 - - - no_errors RP11-12A20.7 Clone_based_vega_gene ENSG00000236233 tier1 17 0 0.00 11 5 31.25 ENSG00000266026 0 genome.wustl.edu 37 12 8382432 8382432 + RNA SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 12 8382432 8382432 C T SNP ENSG00000266026 ENST00000583174 human ensembl 74_37 +1 novel rna NULL NULL 0.017 - - - no_errors AC092111.1 Clone_based_ensembl_gene ENSG00000266026 tier1 - - 36 0 0.00 49 6 10.91 EPHB3 0 genome.wustl.edu 37 3 184299079 184299079 + Missense_Mutation SNP A A G TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 3 184299079 184299079 A G SNP EPHB3 ENST00000330394 human ensembl 74_37 +1 known missense c.2771 p.Y924C 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB3 HGNC ENSG00000182580 31 0 0.00 30 5 14.29 ETV4 0 genome.wustl.edu 37 17 41622356 41622356 + Silent SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 17 41622356 41622356 C T SNP ETV4 ENST00000319349 human ensembl 74_37 -1 known silent c.189 p.T63 1.000 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,prints_Ets_dom,pfscan_Ets_dom - no_errors ETV4 HGNC ENSG00000175832 tier1 - - 43 0 0.00 62 6 8.82 F2RL2 0 genome.wustl.edu 37 5 75913661 75913661 + Missense_Mutation SNP C C A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 5 75913661 75913661 C A SNP F2RL2 ENST00000296641 human ensembl 74_37 -1 known missense c.871 p.A291S 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prot_act_rcpt_3,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors F2RL2 HGNC ENSG00000164220 38 0 0.00 51 3 5.56 FAM102A 0 genome.wustl.edu 37 9 130705463 130705463 + RNA SNP C C A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 9 130705463 130705463 C A SNP FAM102A ENST00000300434 human ensembl 74_37 -1 known rna NULL NULL 0.023 - - - no_errors FAM102A HGNC ENSG00000167106 tier1 - - 50 0 0.00 23 24 51.06 FAM199X 0 genome.wustl.edu 37 X 103420452 103420452 + Missense_Mutation SNP A A G TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e X 103420452 103420452 A G SNP FAM199X ENST00000493442 human ensembl 74_37 +1 known missense c.346 p.S116G 1.000 NULL NULL - no_errors FAM199X HGNC ENSG00000123575 37 0 0.00 74 4 5.06 FAM91A1 0 genome.wustl.edu 37 8 124797873 124797873 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 8 124797873 124797873 C T SNP FAM91A1 ENST00000334705 human ensembl 74_37 +1 known missense c.854 p.A285V 1.000 NULL NULL - no_errors FAM91A1 HGNC ENSG00000176853 tier1 - - 49 0 0.00 47 4 7.84 FAP 0 genome.wustl.edu 37 2 163027548 163027548 + Missense_Mutation SNP T T A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 2 163027548 163027548 T A SNP FAP ENST00000188790 human ensembl 74_37 -1 known missense c.2224 p.N742Y 0.037 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors FAP HGNC ENSG00000078098 tier1 - - 43 0 0.00 26 9 25.71 FAT4 0 genome.wustl.edu 37 4 126238185 126238185 + Nonsense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 4 126238185 126238185 G T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known nonsense c.619 p.G207* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 42 0 0.00 23 3 11.54 FBXO34 0 genome.wustl.edu 37 14 55818138 55818138 + Missense_Mutation SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 14 55818138 55818138 G A SNP FBXO34 ENST00000313833 human ensembl 74_37 +1 known missense c.1030 p.G344R 0.003 NULL superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO34 HGNC ENSG00000178974 tier1 - - 31 0 0.00 22 12 35.29 FBXW7 0 genome.wustl.edu 37 4 153252003 153252003 + Missense_Mutation SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 4 153252003 153252003 G A SNP FBXW7 ENST00000281708 human ensembl 74_37 -1 known missense c.1003 p.H335Y 1.000 superfamily_F-box_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 tier1 - - 56 0 0.00 61 4 6.15 FNTA 0 genome.wustl.edu 37 8 42919271 42919271 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 8 42919271 42919271 C T SNP FNTA ENST00000302279 human ensembl 74_37 +1 known missense c.314 p.A105V 1.000 NULL pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a - no_errors FNTA HGNC ENSG00000168522 tier1 - - 60 0 0.00 58 4 6.45 FOLH1B 0 genome.wustl.edu 37 11 89392887 89392887 + RNA SNP C C A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 11 89392887 89392887 C A SNP FOLH1B ENST00000525540 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors FOLH1B HGNC ENSG00000134612 tier1 - - 98 0 0.00 66 33 33.33 FREM3 0 genome.wustl.edu 37 4 144618921 144618921 + Missense_Mutation SNP C C A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 4 144618921 144618921 C A SNP FREM3 ENST00000329798 human ensembl 74_37 -1 putative missense c.2908 p.G970C 0.220 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 tier1 - - 33 0 0.00 15 10 40.00 FRG1B 0 genome.wustl.edu 37 20 29631557 29631557 + Missense_Mutation SNP A A G TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 20 29631557 29631557 A G SNP FRG1B ENST00000278882 human ensembl 74_37 +1 known missense c.353 p.K118R 1.000 pfam_FRG1 pfam_FRG1,superfamily_Actin_cross-linking - no_errors FRG1B HGNC ENSG00000149531 30 0 0.00 39 5 11.36 FRYL 0 genome.wustl.edu 37 4 48567600 48567600 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 4 48567600 48567600 C T SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.3278 p.R1093K 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 tier1 - - 34 0 0.00 32 4 11.11 FZD2 0 genome.wustl.edu 37 17 42636197 42636197 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 17 42636197 42636197 G T SNP FZD2 ENST00000315323 human ensembl 74_37 +1 known missense c.1141 p.A381S 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD2 HGNC ENSG00000180340 tier1 - - 34 0 0.00 23 16 41.03 GFPT1 0 genome.wustl.edu 37 2 69614290 69614290 + RNA SNP G G C TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 2 69614290 69614290 G C SNP GFPT1 ENST00000494201 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GFPT1 HGNC ENSG00000198380 tier1 - - 10 0 0.00 2 10 83.33 GNA12 0 genome.wustl.edu 37 7 2854518 2854518 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 7 2854518 2854518 C T SNP GNA12 ENST00000407904 human ensembl 74_37 -1 putative missense c.47 p.G16D 0.000 NULL pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_12 - no_errors GNA12 HGNC ENSG00000146535 tier1 - - 20 0 0.00 24 5 17.24 GPR137B 0 genome.wustl.edu 37 1 236306259 236306259 + Missense_Mutation SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 1 236306259 236306259 G A SNP GPR137B ENST00000366592 human ensembl 74_37 +1 known missense c.337 p.V113I 1.000 NULL NULL - no_errors GPR137B HGNC ENSG00000077585 tier1 - - 23 0 0.00 21 4 16.00 GRK1 0 genome.wustl.edu 37 13 114321951 114321951 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 13 114321951 114321951 C T SNP GRK1 ENST00000335678 human ensembl 74_37 +1 known missense c.250 p.P84S 0.959 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK1 HGNC ENSG00000185974 48 0 0.00 29 2 6.45 H2AFY 0 genome.wustl.edu 37 5 134679025 134679025 + Missense_Mutation SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 5 134679025 134679025 G A SNP H2AFY ENST00000511689 human ensembl 74_37 -1 known missense c.878 p.T293I 1.000 pfam_Macro_dom,smart_Macro_dom,pirsf_Core_histone_macro-H2A,pfscan_Macro_dom pfam_Macro_dom,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_Macro_dom,pirsf_Core_histone_macro-H2A,prints_Histone_H2A,pfscan_Macro_dom - no_errors H2AFY HGNC ENSG00000113648 tier1 - - 77 0 0.00 73 4 5.19 HARS 0 genome.wustl.edu 37 5 140070819 140070819 + Missense_Mutation SNP T T G TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 5 140070819 140070819 T G SNP HARS ENST00000504156 human ensembl 74_37 -1 known missense c.71 p.Q24P 1.000 pfam_WHEP-TRS,superfamily_S15_NS1_RNA-bd,pfscan_WHEP-TRS pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_His-tRNA-ligase - no_errors HARS HGNC ENSG00000170445 tier1 - - 47 0 0.00 31 5 13.89 HIVEP1 0 genome.wustl.edu 37 6 12130057 12130057 + Silent SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 6 12130057 12130057 C T SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known silent c.6141 p.N2047 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 tier1 - - 38 0 0.00 57 4 6.56 HNF4A 0 genome.wustl.edu 37 20 43043180 43043180 + Missense_Mutation SNP A A C TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 20 43043180 43043180 A C SNP HNF4A ENST00000316099 human ensembl 74_37 +1 known missense c.526 p.I176L 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4A HGNC ENSG00000101076 21 0 0.00 61 6 8.96 HRNR 0 genome.wustl.edu 37 1 152186614 152186614 + Silent SNP C C G TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 1 152186614 152186614 C G SNP HRNR ENST00000368801 human ensembl 74_37 -1 known silent c.7491 p.S2497 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 - - 18 0 0.00 17 10 37.04 HYOU1 0 genome.wustl.edu 37 11 118918724 118918724 + Silent SNP G G C TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 11 118918724 118918724 G C SNP HYOU1 ENST00000404233 human ensembl 74_37 -1 known silent c.2445 p.R815 1.000 NULL pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC ENSG00000149428 tier1 - - 78 0 0.00 57 9 13.64 IFT140 0 genome.wustl.edu 37 16 1634250 1634250 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 16 1634250 1634250 C T SNP IFT140 ENST00000426508 human ensembl 74_37 -1 known missense c.1327 p.D443N 0.999 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC ENSG00000187535 tier1 - - 29 0 0.00 13 4 23.53 IGFN1 0 genome.wustl.edu 37 1 201174426 201174426 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 1 201174426 201174426 G T SNP IGFN1 ENST00000335211 human ensembl 74_37 +1 known missense c.1133 p.G378V 1.000 smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGFN1 HGNC ENSG00000163395 59 0 0.00 74 4 5.13 IL1RAPL1 0 genome.wustl.edu 37 X 29973625 29973625 + Silent SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e X 29973625 29973625 C T SNP IL1RAPL1 ENST00000302196 human ensembl 74_37 +1 known silent c.1779 p.A593 0.183 NULL pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL1RAPL1 HGNC ENSG00000169306 tier1 - - 40 0 0.00 19 47 71.21 IL36B 0 genome.wustl.edu 37 2 113785502 113785502 + Missense_Mutation SNP A A G TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 2 113785502 113785502 A G SNP IL36B ENST00000327407 human ensembl 74_37 -1 known missense c.452 p.F151S 0.012 pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1 pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1,prints_IL-1_alpha/beta,prints_IL-1_beta - no_errors IL36B HGNC ENSG00000136696 tier1 - - 69 0 0.00 68 4 5.56 ILF3 0 genome.wustl.edu 37 19 10790493 10790493 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 19 10790493 10790493 C T SNP ILF3 ENST00000449870 human ensembl 74_37 +1 known missense c.749 p.P250L 1.000 pfam_DZF,smart_DZF pfam_DZF,pfam_dsRNA-bd_dom,smart_DZF,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors ILF3 HGNC ENSG00000129351 tier1 - - 47 0 0.00 35 4 10.26 INTS4 0 genome.wustl.edu 37 11 77702183 77702183 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 11 77702183 77702183 C T SNP INTS4 ENST00000534064 human ensembl 74_37 -1 known missense c.217 p.V73I 0.998 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors INTS4 HGNC ENSG00000149262 tier1 - - 76 0 0.00 53 35 39.77 IPP 0 genome.wustl.edu 37 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 1 46184897 46184898 AC - DEL IPP ENST00000396478 human ensembl 74_37 -1 known frame_shift_del c.1164_1163 p.C388fs 1.000:1.000 pfam_Kelch_1,smart_Kelch_1,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 IPP HGNC ENSG00000197429 tier1 27 0 0.00 28 4 12.50 IREB2 0 genome.wustl.edu 37 15 78732161 78732161 + Missense_Mutation SNP A A G TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 15 78732161 78732161 A G SNP IREB2 ENST00000258886 human ensembl 74_37 +1 known missense c.44 p.E15G 1.000 superfamily_Acoase/IPM_deHydtase_lsu_aba pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors IREB2 HGNC ENSG00000136381 tier1 - - 59 0 0.00 27 20 42.55 ITGA11 0 genome.wustl.edu 37 15 68649617 68649617 + Silent SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 15 68649617 68649617 G T SNP ITGA11 ENST00000315757 human ensembl 74_37 -1 known silent c.621 p.G207 0.916 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A 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 ITGA11 HGNC ENSG00000137809 92 0 0.00 50 3 5.66 JAG2 0 genome.wustl.edu 37 14 105617246 105617246 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 14 105617246 105617246 C T SNP JAG2 ENST00000331782 human ensembl 74_37 -1 known missense c.1384 p.V462I 0.132 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C - no_errors JAG2 HGNC ENSG00000184916 tier1 - - 40 0 0.00 18 25 58.14 JMJD1C 0 genome.wustl.edu 37 10 64968032 64968032 + Missense_Mutation SNP G G C TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 10 64968032 64968032 G C SNP JMJD1C ENST00000399262 human ensembl 74_37 -1 known missense c.3397 p.P1133A 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 tier1 - - 26 0 0.00 12 22 64.71 KALRN 0 genome.wustl.edu 37 3 124398488 124398488 + Missense_Mutation SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 3 124398488 124398488 G A SNP KALRN ENST00000462213 human ensembl 74_37 +1 putative missense c.352 p.G118S 0.290 NULL NULL - no_errors KALRN HGNC ENSG00000160145 tier1 - - 58 0 0.00 41 11 21.15 KAT6B 0 genome.wustl.edu 37 10 76602862 76602862 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 10 76602862 76602862 G T SNP KAT6B ENST00000287239 human ensembl 74_37 +1 known missense c.247 p.V83F 0.999 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 tier1 - - 64 0 0.00 33 4 10.81 KAT7 0 genome.wustl.edu 37 17 47905057 47905057 + RNA SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 17 47905057 47905057 G A SNP KAT7 ENST00000503101 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors KAT7 HGNC ENSG00000136504 tier1 - - 53 0 0.00 74 4 5.13 KBTBD12 0 genome.wustl.edu 37 3 127642564 127642564 + Silent SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 3 127642564 127642564 C T SNP KBTBD12 ENST00000405109 human ensembl 74_37 +1 known silent c.660 p.V220 0.915 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 KBTBD12 HGNC ENSG00000187715 tier1 - - 39 0 0.00 20 5 20.00 KCNJ12 0 genome.wustl.edu 37 17 21318691 21318691 + Missense_Mutation SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 17 21318691 21318691 G A SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known missense c.37 p.V13M 1.000 pfam_K_chnl_inward-rec_Kir_N pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 tier1 - - 94 0 0.00 89 6 6.32 KCNN3 0 genome.wustl.edu 37 1 154680162 154680162 + RNA SNP G G C TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 1 154680162 154680162 G C SNP KCNN3 ENST00000515643 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors KCNN3 HGNC ENSG00000143603 tier1 - - 76 0 0.00 62 38 38.00 KDM5A 0 genome.wustl.edu 37 12 404831 404831 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 12 404831 404831 G T SNP KDM5A ENST00000399788 human ensembl 74_37 -1 known missense c.4363 p.L1455M 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 tier1 - - 71 0 0.00 62 4 6.06 KIF3B 0 genome.wustl.edu 37 20 30898258 30898258 + Silent SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 20 30898258 30898258 C T SNP KIF3B ENST00000375712 human ensembl 74_37 +1 known silent c.678 p.S226 0.988 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3B HGNC ENSG00000101350 tier1 - - 24 0 0.00 36 17 32.08 KIR2DL3 0 genome.wustl.edu 37 19 55258792 55258792 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 19 55258792 55258792 C T SNP KIR2DL3 ENST00000342376 human ensembl 74_37 +1 known missense c.670 p.P224S 0.070 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL3 HGNC ENSG00000243772 tier1 rs72487164 - 197 0 0.00 95 73 43.20 KIR3DX1 0 genome.wustl.edu 37 19 55048317 55048317 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 19 55048317 55048317 G T SNP KIR3DX1 ENST00000335056 human ensembl 74_37 +1 known missense c.884 p.C295F 0.804 smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors KIR3DX1 HGNC ENSG00000104970 tier1 - - 59 0 0.00 65 5 7.14 KMT2E 0 genome.wustl.edu 37 7 104753227 104753227 + Missense_Mutation SNP A A G TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 7 104753227 104753227 A G SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known missense c.5024 p.H1675R 0.994 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 tier1 - - 76 0 0.00 61 21 25.61 KMT2E 0 genome.wustl.edu 37 7 104753228 104753228 + Missense_Mutation SNP C C A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 7 104753228 104753228 C A SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known missense c.5025 p.H1675Q 0.989 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 tier1 - - 77 0 0.00 61 21 25.61 KRT34 0 genome.wustl.edu 37 17 39535268 39535268 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 17 39535268 39535268 C T SNP KRT34 ENST00000394001 human ensembl 74_37 -1 known missense c.1163 p.R388H 0.979 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT34 HGNC ENSG00000131737 tier1 - - 104 0 0.00 57 51 47.22 LENG8 0 genome.wustl.edu 37 19 54969281 54969281 + Splice_Site SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 19 54969281 54969281 G T SNP LENG8 ENST00000326764 human ensembl 74_37 +1 known splice_site c.1903-1 e13-1 1.000 - - - no_errors LENG8 HGNC ENSG00000167615 22 0 0.00 23 2 8.00 LINC00052 0 genome.wustl.edu 37 15 88121427 88121428 + RNA DEL CT CT - TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 15 88121427 88121428 CT - DEL LINC00052 ENST00000560153 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors LINC00052 HGNC ENSG00000259527 tier1 42 0 0.00 26 3 10.34 LIPF 0 genome.wustl.edu 37 10 90438384 90438384 + Silent SNP C C G TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 10 90438384 90438384 C G SNP LIPF ENST00000394375 human ensembl 74_37 +1 known silent c.1173 p.A391 0.537 pfam_AB_hydrolase_1 pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPF HGNC ENSG00000182333 86 0 0.00 64 4 5.88 LMOD2 0 genome.wustl.edu 37 7 123302462 123302462 + Silent SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 7 123302462 123302462 C T SNP LMOD2 ENST00000458573 human ensembl 74_37 +1 known silent c.822 p.N274 0.966 NULL pfam_Tropomodulin,pfscan_WH2_dom - no_errors LMOD2 HGNC ENSG00000170807 tier1 - - 58 0 0.00 33 18 35.29 LOC100996870 0 genome.wustl.edu 37 9 66466233 66466233 + RNA SNP C C A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 9 66466233 66466233 C A SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 tier1 rs12552537 - 12 0 0.00 9 4 30.77 LOC101930218 0 genome.wustl.edu 37 19 199283 199283 + RNA SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 19 199283 199283 G A SNP LOC101930218 ENST00000607682 human ensembl 74_37 -1 known rna NULL NULL 0.967 - - - no_errors AC092299.8 Clone_based_vega_gene ENSG00000272098 8 0 0.00 2 2 50.00 LOC285556 0 genome.wustl.edu 37 4 100571762 100571762 + Silent SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 4 100571762 100571762 G A SNP LOC285556 ENST00000511828 human ensembl 74_37 -1 putative silent c.4044 p.S1348 0.005 NULL NULL - no_errors RP11-766F14.2 Clone_based_vega_gene ENSG00000248713 tier1 - - 44 0 0.00 32 15 31.91 LOC339788 0 genome.wustl.edu 37 2 8064273 8064273 + RNA SNP T T C TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 2 8064273 8064273 T C SNP LOC339788 ENST00000426969 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors AC007464.1 Clone_based_vega_gene ENSG00000235665 tier1 - - 35 0 0.00 10 30 75.00 LRP1B 0 genome.wustl.edu 37 2 141819736 141819736 + Missense_Mutation SNP C C A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 2 141819736 141819736 C A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.1120 p.A374S 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 61 0 0.00 49 8 14.04 LRRC36 0 genome.wustl.edu 37 16 67380182 67380182 + Missense_Mutation SNP C C A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 16 67380182 67380182 C A SNP LRRC36 ENST00000570075 human ensembl 74_37 +1 known missense c.94 p.P32T 1.000 NULL NULL - no_errors LRRC36 HGNC ENSG00000159708 tier1 - - 81 0 0.00 71 4 5.33 LRRIQ1 0 genome.wustl.edu 37 12 85466844 85466844 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 12 85466844 85466844 G T SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known missense c.2855 p.C952F 0.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 tier1 - - 67 0 0.00 41 40 49.38 LRRN3 0 genome.wustl.edu 37 7 110763330 110763330 + Nonsense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 7 110763330 110763330 C T SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known nonsense c.502 p.R168* 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN3 HGNC ENSG00000173114 29 0 0.00 29 2 6.45 MAP2K4P1 0 genome.wustl.edu 37 X 72745083 72745083 + RNA SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e X 72745083 72745083 G T SNP MAP2K4P1 ENST00000602584 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors MAP2K4P1 HGNC ENSG00000269904 tier1 - - 22 0 0.00 4 15 78.95 MARCH4 0 genome.wustl.edu 37 2 217124265 217124265 + Silent SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 2 217124265 217124265 G T SNP MARCH4 ENST00000273067 human ensembl 74_37 -1 known silent c.1003 p.R335 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH4 HGNC ENSG00000144583 tier1 - - 65 0 0.00 42 29 40.85 MARCH6 0 genome.wustl.edu 37 5 10411602 10411602 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 5 10411602 10411602 C T SNP MARCH6 ENST00000274140 human ensembl 74_37 +1 known missense c.1849 p.P617S 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH6 HGNC ENSG00000145495 55 0 0.00 38 4 9.52 MCPH1 0 genome.wustl.edu 37 8 6289099 6289099 + Frame_Shift_Del DEL A A - TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 8 6289099 6289099 A - DEL MCPH1 ENST00000344683 human ensembl 74_37 +1 known frame_shift_del c.313 p.K107fs 0.022 NULL pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1 - no_errors MCPH1 HGNC ENSG00000147316 tier1 24 0 0.00 20 3 13.04 MDGA1 0 genome.wustl.edu 37 6 37622643 37622643 + Silent SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 6 37622643 37622643 C T SNP MDGA1 ENST00000297153 human ensembl 74_37 -1 known silent c.645 p.Q215 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA1 HGNC ENSG00000112139 tier1 - - 61 0 0.00 34 19 35.85 METRNL 0 genome.wustl.edu 37 17 81052284 81052284 + Silent SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 17 81052284 81052284 G A SNP METRNL ENST00000320095 human ensembl 74_37 +1 known silent c.900 p.E300 0.011 NULL NULL - no_errors METRNL HGNC ENSG00000176845 tier1 - - 133 0 0.00 97 56 36.60 METTL7B 0 genome.wustl.edu 37 12 56075629 56075629 + Missense_Mutation SNP C C A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 12 56075629 56075629 C A SNP METTL7B ENST00000394252 human ensembl 74_37 +1 known missense c.91 p.L31M 0.002 NULL pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel - no_errors METTL7B HGNC ENSG00000170439 22 0 0.00 31 4 11.43 MFAP1 0 genome.wustl.edu 37 15 44107236 44107236 + Silent SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 15 44107236 44107236 C T SNP MFAP1 ENST00000267812 human ensembl 74_37 -1 known silent c.336 p.V112 0.793 NULL pfam_MFAP1_C - no_errors MFAP1 HGNC ENSG00000140259 tier1 - - 48 0 0.00 24 11 31.43 MICA 0 genome.wustl.edu 37 6 31378347 31378347 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 6 31378347 31378347 C T SNP MICA ENST00000449934 human ensembl 74_37 +1 known missense c.98 p.T33M 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors MICA HGNC ENSG00000204520 57 0 0.00 62 4 6.06 MIR4329 0 genome.wustl.edu 37 X 112023977 112023978 + RNA INS - - A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e X 112023977 112023978 - A INS MIR4329 ENST00000582643 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.002 - - - no_errors MIR4329 HGNC ENSG00000263351 tier1 34 0 0.00 45 5 10.00 MORC2-AS1 0 genome.wustl.edu 37 22 31318335 31318335 + RNA SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 22 31318335 31318335 G A SNP MORC2-AS1 ENST00000422995 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors MORC2-AS1 HGNC ENSG00000235989 tier1 - - 27 0 0.00 12 18 60.00 MROH9 0 genome.wustl.edu 37 1 170934323 170934323 + Nonsense_Mutation SNP C C A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 1 170934323 170934323 C A SNP MROH9 ENST00000367759 human ensembl 74_37 +1 known nonsense c.407 p.S136* 0.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH9 HGNC ENSG00000117501 41 0 0.00 34 2 5.56 MTHFD1L 0 genome.wustl.edu 37 6 151336054 151336054 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 6 151336054 151336054 G T SNP MTHFD1L ENST00000367321 human ensembl 74_37 +1 known missense c.2346 p.Q782H 1.000 pfam_Formate_THF_ligase,superfamily_P-loop_NTPase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase - no_errors MTHFD1L HGNC ENSG00000120254 57 0 0.00 64 4 5.88 MUC12 0 genome.wustl.edu 37 7 100640747 100640747 + Silent SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 7 100640747 100640747 C T SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known silent c.6903 p.P2301 0.000 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 tier1 - - 58 0 0.00 35 16 31.37 MUC16 0 genome.wustl.edu 37 19 9070725 9070725 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 19 9070725 9070725 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.16721 p.A5574D 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 65 0 0.00 47 3 6.00 MUC17 0 genome.wustl.edu 37 7 100676491 100676491 + Missense_Mutation SNP C C G TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 7 100676491 100676491 C G SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.1794 p.N598K 0.007 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 119 0 0.00 76 29 27.62 MUC5B 0 genome.wustl.edu 37 11 1247459 1247459 + Missense_Mutation SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 11 1247459 1247459 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.152 p.R51Q 0.001 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,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 MUC5B HGNC ENSG00000117983 tier1 - - 202 0 0.00 119 61 33.89 MYB 0 genome.wustl.edu 37 6 135518458 135518458 + Silent SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 6 135518458 135518458 G A SNP MYB ENST00000341911 human ensembl 74_37 +1 known silent c.1563 p.S521 1.000 pfam_C-myb_C pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYB HGNC ENSG00000118513 34 0 0.00 37 2 5.13 MYBPC3 0 genome.wustl.edu 37 11 47353666 47353666 + Silent SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 11 47353666 47353666 G A SNP MYBPC3 ENST00000399249 human ensembl 74_37 -1 known silent c.3771 p.N1257 0.711 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC3 HGNC ENSG00000134571 tier1 - - 22 0 0.00 21 6 22.22 MYH6 0 genome.wustl.edu 37 14 23863421 23863421 + Silent SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 14 23863421 23863421 C T SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known silent c.2541 p.T847 0.002 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 tier1 - - 48 0 0.00 35 24 40.68 MYH8 0 genome.wustl.edu 37 17 10304048 10304048 + Silent SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 17 10304048 10304048 G T SNP MYH8 ENST00000403437 human ensembl 74_37 -1 known silent c.3394 p.R1132 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 tier1 - - 63 0 0.00 24 34 58.62 MZB1 0 genome.wustl.edu 37 5 138725510 138725512 + In_Frame_Del DEL CAG CAG - TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 5 138725510 138725512 CAG - DEL MZB1 ENST00000503481 human ensembl 74_37 -1 known in_frame_del c.36_34 p.L12in_frame_del 0.366:0.352:0.265 NULL NULL - no_errors MZB1 HGNC ENSG00000170476 tier1 39 0 0.00 31 3 8.82 NAPEPLD 0 genome.wustl.edu 37 7 102760610 102760610 + Nonsense_Mutation SNP C C A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 7 102760610 102760610 C A SNP NAPEPLD ENST00000455523 human ensembl 74_37 -1 known nonsense c.574 p.G192* 0.987 NULL NULL - no_errors NAPEPLD HGNC ENSG00000161048 38 0 0.00 32 2 5.88 NAV2 0 genome.wustl.edu 37 11 20099124 20099124 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 11 20099124 20099124 G T SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.5178 p.Q1726H 1.000 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 tier1 - - 74 0 0.00 59 4 6.25 NCAM2 0 genome.wustl.edu 37 21 22707830 22707830 + Missense_Mutation SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 21 22707830 22707830 G A SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known missense c.743 p.G248D 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom 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_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 tier1 - - 51 0 0.00 45 4 8.16 NCAPD3 0 genome.wustl.edu 37 11 134074826 134074826 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 11 134074826 134074826 C T SNP NCAPD3 ENST00000534548 human ensembl 74_37 -1 known missense c.1057 p.V353I 0.965 superfamily_ARM-type_fold,pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC ENSG00000151503 tier1 - - 28 0 0.00 23 3 11.54 NEB 0 genome.wustl.edu 37 2 152534587 152534587 + Silent SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 2 152534587 152534587 G T SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.3370 p.R1124 0.734 pfam_Nebulin_35r-motif,superfamily_Adhesion_dom,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 40 0 0.00 43 3 6.52 NEK11 0 genome.wustl.edu 37 3 130992369 130992369 + Missense_Mutation SNP C C G TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 3 130992369 130992369 C G SNP NEK11 ENST00000383366 human ensembl 74_37 +1 known missense c.1669 p.P557A 0.001 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK11 HGNC ENSG00000114670 tier1 - - 89 0 0.00 43 19 30.65 NES 0 genome.wustl.edu 37 1 156640094 156640094 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 1 156640094 156640094 G T SNP NES ENST00000368223 human ensembl 74_37 -1 known missense c.3886 p.P1296T 0.010 NULL pfam_IF - no_errors NES HGNC ENSG00000132688 tier1 - - 52 0 0.00 22 54 71.05 NPHS1 0 genome.wustl.edu 37 19 36332627 36332627 + Frame_Shift_Del DEL A A - TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 19 36332627 36332627 A - DEL NPHS1 ENST00000378910 human ensembl 74_37 -1 known frame_shift_del c.2805 p.V936fs 1.000 superfamily_Fibronectin_type3,smart_Ig_sub,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NPHS1 HGNC ENSG00000161270 tier1 45 0 0.00 70 10 12.50 NTRK1 0 genome.wustl.edu 37 1 156849819 156849819 + Missense_Mutation SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 1 156849819 156849819 G A SNP NTRK1 ENST00000524377 human ensembl 74_37 +1 known missense c.2075 p.R692H 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt - no_errors NTRK1 HGNC ENSG00000198400 tier1 - - 60 0 0.00 15 37 71.15 OR1Q1 0 genome.wustl.edu 37 9 125377488 125377488 + Missense_Mutation SNP C C A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 9 125377488 125377488 C A SNP OR1Q1 ENST00000297913 human ensembl 74_37 +1 known missense c.472 p.L158M 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1Q1 HGNC ENSG00000165202 29 0 0.00 27 4 12.90 OR2S2 0 genome.wustl.edu 37 9 35957427 35957427 + Silent SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 9 35957427 35957427 G T SNP OR2S2 ENST00000341959 human ensembl 74_37 -1 known silent c.669 p.I223 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 OR2S2 HGNC ENSG00000122718 26 0 0.00 27 2 6.90 OR2T2 0 genome.wustl.edu 37 1 248616764 248616764 + Silent SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 1 248616764 248616764 C T SNP OR2T2 ENST00000342927 human ensembl 74_37 +1 known silent c.666 p.I222 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,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 OR2T2 HGNC ENSG00000196240 tier1 - - 23 0 0.00 11 3 21.43 OR2T3 0 genome.wustl.edu 37 1 248637563 248637563 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 1 248637563 248637563 G T SNP OR2T3 ENST00000359594 human ensembl 74_37 +1 known missense c.912 p.R304S 0.003 pfam_7TM_GPCR_olfarory/Srsx pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T3 HGNC ENSG00000196539 tier1 - - 255 0 0.00 164 91 35.55 OR4A16 0 genome.wustl.edu 37 11 55110804 55110804 + Missense_Mutation SNP T T C TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 11 55110804 55110804 T C SNP OR4A16 ENST00000314721 human ensembl 74_37 +1 known missense c.128 p.I43T 0.248 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 OR4A16 HGNC ENSG00000181961 56 0 0.00 54 3 5.26 OR4P4 0 genome.wustl.edu 37 11 55406658 55406658 + Silent SNP C C A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 11 55406658 55406658 C A SNP OR4P4 ENST00000314612 human ensembl 74_37 +1 known silent c.825 p.I275 0.009 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 OR4P4 HGNC ENSG00000181927 tier1 - - 37 0 0.00 32 11 25.58 OR56A3 0 genome.wustl.edu 37 11 5969255 5969255 + Nonsense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 11 5969255 5969255 C T SNP OR56A3 ENST00000329564 human ensembl 74_37 +1 known nonsense c.679 p.R227* 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR56A3 HGNC ENSG00000184478 45 0 0.00 35 2 5.41 PALM2-AKAP2 0 genome.wustl.edu 37 9 112694236 112694236 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 9 112694236 112694236 C T SNP PALM2-AKAP2 ENST00000374530 human ensembl 74_37 +1 known missense c.424 p.P142S 1.000 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 tier1 - - 38 0 0.00 15 17 53.12 PAPD7 0 genome.wustl.edu 37 5 6755013 6755014 + Frame_Shift_Del DEL AC AC - TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 5 6755013 6755014 AC - DEL PAPD7 ENST00000230859 human ensembl 74_37 +1 known frame_shift_del c.1584_1585 p.T532fs 1.000:1.000 NULL pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD7 HGNC ENSG00000112941 tier1 37 0 0.00 24 2 7.69 PCDH18 0 genome.wustl.edu 37 4 138451019 138451019 + Missense_Mutation SNP T T A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 4 138451019 138451019 T A SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known missense c.2224 p.T742S 0.994 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 tier1 - - 45 0 0.00 24 8 25.00 PCDHB3 0 genome.wustl.edu 37 5 140482041 140482041 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 5 140482041 140482041 C T SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.1808 p.S603L 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 PCDHB3 HGNC ENSG00000113205 tier1 - - 192 0 0.00 88 116 56.59 PCDHB8 0 genome.wustl.edu 37 5 140558872 140558872 + Silent SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 5 140558872 140558872 C T SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known silent c.1257 p.N419 0.060 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 PCDHB8 HGNC ENSG00000120322 tier1 - - 366 0 0.00 271 69 20.23 PDLIM5 0 genome.wustl.edu 37 4 95578595 95578595 + Silent SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 4 95578595 95578595 G A SNP PDLIM5 ENST00000317968 human ensembl 74_37 +1 known silent c.1482 p.L494 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM5 HGNC ENSG00000163110 tier1 - - 64 0 0.00 31 19 38.00 PGLYRP2 0 genome.wustl.edu 37 19 15580205 15580205 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 19 15580205 15580205 G T SNP PGLYRP2 ENST00000292609 human ensembl 74_37 -1 known missense c.1879 p.P627T 0.001 NULL pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP2 HGNC ENSG00000161031 tier1 - - 92 0 0.00 70 4 5.41 PHF16 0 genome.wustl.edu 37 X 46887436 46887436 + Silent SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e X 46887436 46887436 C T SNP PHF16 ENST00000218343 human ensembl 74_37 +1 known silent c.618 p.C206 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF16 HGNC ENSG00000102221 55 0 0.00 46 3 6.12 PHF8 0 genome.wustl.edu 37 X 54069146 54069146 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e X 54069146 54069146 C T SNP PHF8 ENST00000357988 human ensembl 74_37 -1 known missense c.124 p.V42M 0.997 superfamily_Znf_FYVE_PHD,pfscan_Znf_PHD-finger pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF8 HGNC ENSG00000172943 tier1 - - 37 0 0.00 75 4 5.06 PID1 0 genome.wustl.edu 37 2 229890700 229890700 + Missense_Mutation SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 2 229890700 229890700 G A SNP PID1 ENST00000354069 human ensembl 74_37 -1 known missense c.401 p.A134V 1.000 smart_PTB/PI_dom pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors PID1 HGNC ENSG00000153823 tier1 - - 63 0 0.00 61 4 6.15 PIK3CG 0 genome.wustl.edu 37 7 106509583 106509583 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 7 106509583 106509583 C T SNP PIK3CG ENST00000359195 human ensembl 74_37 +1 known missense c.1577 p.P526L 1.000 superfamily_ARM-type_fold pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 tier1 - - 37 0 0.00 33 9 21.43 PLAC8 0 genome.wustl.edu 37 4 84026109 84026109 + Missense_Mutation SNP G G C TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 4 84026109 84026109 G C SNP PLAC8 ENST00000311507 human ensembl 74_37 -1 known missense c.183 p.C61W 1.000 pfam_Uncharacterised_Cys-rich,tigrfam_Uncharacterised_Cys-rich pfam_Uncharacterised_Cys-rich,tigrfam_Uncharacterised_Cys-rich - no_errors PLAC8 HGNC ENSG00000145287 48 0 0.00 46 3 6.12 PLAGL1 0 genome.wustl.edu 37 6 144263369 144263369 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 6 144263369 144263369 C T SNP PLAGL1 ENST00000354765 human ensembl 74_37 -1 known missense c.584 p.R195H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAGL1 HGNC ENSG00000118495 44 0 0.00 33 2 5.71 PLCB2 0 genome.wustl.edu 37 15 40594185 40594185 + Silent SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 15 40594185 40594185 G A SNP PLCB2 ENST00000260402 human ensembl 74_37 -1 known silent c.555 p.L185 0.988 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB2 HGNC ENSG00000137841 tier1 - - 59 0 0.00 26 11 29.73 PLXNA1 0 genome.wustl.edu 37 3 126749110 126749110 + Missense_Mutation SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 3 126749110 126749110 G A SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known missense c.5086 p.D1696N 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 tier1 - - 40 0 0.00 13 6 31.58 PMCHL1 0 genome.wustl.edu 37 5 22142664 22142664 + RNA SNP A A C TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 5 22142664 22142664 A C SNP PMCHL1 ENST00000418902 human ensembl 74_37 +1 known rna NULL NULL 0.984 - - - no_errors PMCHL1 HGNC ENSG00000168967 tier1 - - 62 0 0.00 61 21 25.61 PNPLA5 0 genome.wustl.edu 37 22 44285693 44285694 + Frame_Shift_Ins INS - - T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 22 44285693 44285694 - T INS PNPLA5 ENST00000216177 human ensembl 74_37 -1 known frame_shift_ins c.478_477 p.E159fs 0.000:0.000 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA5 HGNC ENSG00000100341 tier1 33 0 0.00 15 2 11.76 PRDM15 0 genome.wustl.edu 37 21 43256297 43256297 + Nonsense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 21 43256297 43256297 G T SNP PRDM15 ENST00000269844 human ensembl 74_37 -1 known nonsense c.2301 p.C767* 0.896 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 tier1 - - 39 0 0.00 34 9 20.93 PREX2 0 genome.wustl.edu 37 8 69021848 69021848 + Missense_Mutation SNP C C G TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 8 69021848 69021848 C G SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.3136 p.Q1046E 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 tier1 - - 30 0 0.00 14 12 46.15 PRKAB1 0 genome.wustl.edu 37 12 120110200 120110200 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 12 120110200 120110200 C T SNP PRKAB1 ENST00000229328 human ensembl 74_37 +1 known missense c.254 p.T85M 1.000 superfamily_Ig_E-set pfam_AMP_prot_kin_bsu_interact-dom,superfamily_Ig_E-set - no_errors PRKAB1 HGNC ENSG00000111725 tier1 - - 50 0 0.00 55 5 8.33 PRSS12 0 genome.wustl.edu 37 4 119229726 119229726 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 4 119229726 119229726 G T SNP PRSS12 ENST00000296498 human ensembl 74_37 -1 known missense c.1496 p.P499H 1.000 superfamily_Srcr_rcpt-rel pfam_SRCR,pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_Kringle-like,smart_Kringle,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Kringle,pfscan_SRCR,pfscan_Peptidase_S1,prints_SRCR,prints_Peptidase_S1A - no_errors PRSS12 HGNC ENSG00000164099 tier1 - - 71 0 0.00 57 4 6.56 PRSS3 0 genome.wustl.edu 37 9 33794840 33794840 + Silent SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 9 33794840 33794840 G A SNP PRSS3 ENST00000342836 human ensembl 74_37 +1 known silent c.51 p.A17 0.000 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS3 HGNC ENSG00000010438 tier1 rs10117993 - 45 0 0.00 54 5 8.47 PTPRJ 0 genome.wustl.edu 37 11 48152120 48152120 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 11 48152120 48152120 G T SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known missense c.1467 p.E489D 0.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 44 0 0.00 38 2 5.00 PTPRK 0 genome.wustl.edu 37 6 128383358 128383359 + RNA INS - - T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 6 128383358 128383359 - T INS PTPRK ENST00000434424 human ensembl 74_37 -1 known rna NULL NULL 0.033:0.036 - - - no_errors PTPRK HGNC ENSG00000152894 tier1 17 0 0.00 18 3 14.29 PTPRN2 0 genome.wustl.edu 37 7 157387999 157387999 + Silent SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 7 157387999 157387999 G A SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known silent c.2496 p.H832 0.900 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 tier1 rs140246794 - 43 0 0.00 38 20 34.48 PTX4 0 genome.wustl.edu 37 16 1537710 1537710 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 16 1537710 1537710 G T SNP PTX4 ENST00000447419 human ensembl 74_37 -1 known missense c.403 p.Q135K 0.022 NULL pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors PTX4 HGNC ENSG00000251692 tier1 - - 78 0 0.00 64 4 5.88 PZP 0 genome.wustl.edu 37 12 9305470 9305470 + Silent SNP A A C TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 12 9305470 9305470 A C SNP PZP ENST00000261336 human ensembl 74_37 -1 known silent c.4071 p.T1357 0.876 superfamily_A-macroglobulin_rcpt-bd pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 tier1 - - 64 0 0.00 39 13 25.00 RASSF6 0 genome.wustl.edu 37 4 74459299 74459299 + Silent SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 4 74459299 74459299 G A SNP RASSF6 ENST00000342081 human ensembl 74_37 -1 known silent c.252 p.G84 0.013 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom - no_errors RASSF6 HGNC ENSG00000169435 tier1 rs141793183 - 81 0 0.00 71 8 10.13 RB1 0 genome.wustl.edu 37 13 49039405 49039406 + Frame_Shift_Ins INS - - A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 13 49039405 49039406 - A INS RB1 ENST00000267163 human ensembl 74_37 +1 known frame_shift_ins c.2390_2391 p.R798fs 1.000:0.992 pfam_RB_C pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 tier1 60 0 0.00 24 35 59.32 RBMS2 0 genome.wustl.edu 37 12 56974967 56974967 + Splice_Site SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 12 56974967 56974967 G T SNP RBMS2 ENST00000262031 human ensembl 74_37 +1 known splice_site c.543-1 e6-1 1.000 - - - no_errors RBMS2 HGNC ENSG00000076067 tier1 - - 46 0 0.00 57 4 6.56 RDH10 0 genome.wustl.edu 37 8 74231402 74231402 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 8 74231402 74231402 G T SNP RDH10 ENST00000240285 human ensembl 74_37 +1 known missense c.597 p.L199F 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH10 HGNC ENSG00000121039 tier1 - - 90 0 0.00 54 35 39.33 RGS2 0 genome.wustl.edu 37 1 192779527 192779527 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 1 192779527 192779527 G T SNP RGS2 ENST00000235382 human ensembl 74_37 +1 known missense c.240 p.W80C 1.000 superfamily_Regulat_G_prot_signal_superfam,prints_RGS_dom pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS2 HGNC ENSG00000116741 tier1 - - 36 0 0.00 55 4 6.78 RIC8A 0 genome.wustl.edu 37 11 209475 209475 + Silent SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 11 209475 209475 G A SNP RIC8A ENST00000325207 human ensembl 74_37 +1 known silent c.201 p.L67 1.000 pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn - no_errors RIC8A HGNC ENSG00000177963 84 0 0.00 74 4 5.13 RNF212 0 genome.wustl.edu 37 4 1087628 1087628 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 4 1087628 1087628 G T SNP RNF212 ENST00000333673 human ensembl 74_37 -1 known missense c.421 p.P141T 0.000 NULL pfscan_Znf_RING - no_errors RNF212 HGNC ENSG00000178222 102 0 0.00 73 4 5.19 RPS14 0 genome.wustl.edu 37 5 149827257 149827257 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 5 149827257 149827257 C T SNP RPS14 ENST00000312037 human ensembl 74_37 -1 known missense c.40 p.V14I 1.000 pirsf_Ribosomal_S11 pfam_Ribosomal_S11,pirsf_Ribosomal_S11 - no_errors RPS14 HGNC ENSG00000164587 tier1 - - 59 0 0.00 15 20 57.14 RSC1A1 0 genome.wustl.edu 37 1 15988150 15988150 + Missense_Mutation SNP G G C TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 1 15988150 15988150 G C SNP RSC1A1 ENST00000345034 human ensembl 74_37 +1 known missense c.1787 p.R596P 1.000 superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors RSC1A1 HGNC ENSG00000215695 tier1 - - 65 0 0.00 24 6 20.00 SAMD9L 0 genome.wustl.edu 37 7 92764139 92764139 + Silent SNP T T C TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 7 92764139 92764139 T C SNP SAMD9L ENST00000318238 human ensembl 74_37 -1 known silent c.1146 p.E382 0.574 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 tier1 - - 24 0 0.00 17 8 32.00 SCN3A 0 genome.wustl.edu 37 2 165946875 165946875 + Missense_Mutation SNP C C G TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 2 165946875 165946875 C G SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.5788 p.E1930Q 0.801 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 30 0 0.00 28 3 9.68 SCN9A 0 genome.wustl.edu 37 2 167142872 167142872 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 2 167142872 167142872 C T SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.1579 p.E527K 0.589 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 tier1 - - 69 0 0.00 66 10 13.16 SCRIB 0 genome.wustl.edu 37 8 144896032 144896032 + Silent SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 8 144896032 144896032 G A SNP SCRIB ENST00000320476 human ensembl 74_37 -1 known silent c.312 p.C104 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 tier1 - - 91 0 0.00 62 21 25.30 SCRIB 0 genome.wustl.edu 37 8 144896033 144896033 + Missense_Mutation SNP C C A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 8 144896033 144896033 C A SNP SCRIB ENST00000320476 human ensembl 74_37 -1 known missense c.311 p.C104F 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 tier1 - - 93 0 0.00 62 21 25.30 SDAD1P1 0 genome.wustl.edu 37 8 26237201 26237201 + RNA SNP C C A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 8 26237201 26237201 C A SNP SDAD1P1 ENST00000519902 human ensembl 74_37 -1 known rna NULL NULL 0.361 - - - no_errors SDAD1P1 HGNC ENSG00000228451 tier1 - - 66 0 0.00 7 41 85.42 SDHA 0 genome.wustl.edu 37 5 235447 235447 + Missense_Mutation SNP A A G TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 5 235447 235447 A G SNP SDHA ENST00000264932 human ensembl 74_37 +1 known missense c.1253 p.K418R 1.000 pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Succ_DH/fumarate_Rdtase_cat,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg - no_errors SDHA HGNC ENSG00000073578 tier1 - - 104 0 0.00 50 4 7.41 SEC16A 0 genome.wustl.edu 37 9 139369857 139369857 + Silent SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 9 139369857 139369857 G A SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known silent c.2211 p.N737 0.994 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 24 0 0.00 20 3 13.04 SEMA6C 0 genome.wustl.edu 37 1 151109436 151109436 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 1 151109436 151109436 C T SNP SEMA6C ENST00000368913 human ensembl 74_37 -1 known missense c.871 p.G291R 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom - no_errors SEMA6C HGNC ENSG00000143434 65 0 0.00 65 4 5.80 SEMG2 0 genome.wustl.edu 37 20 43851148 43851148 + Missense_Mutation SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 20 43851148 43851148 G A SNP SEMG2 ENST00000372769 human ensembl 74_37 +1 known missense c.875 p.R292H 0.000 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG2 HGNC ENSG00000124157 tier1 rs145586123 - 17 0 0.00 25 11 30.56 SENP3 0 genome.wustl.edu 37 17 7475229 7475232 + RNA DEL AAAT AAAT - TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 AAAT AAAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 17 7475229 7475232 AAAT - DEL SENP3 ENST00000578868 human ensembl 74_37 +1 known rna NULL NULL 0.927:0.933:0.939:0.946 - - - no_errors SENP3 HGNC ENSG00000161956 tier1 29 0 0.00 18 10 35.71 SETD4 0 genome.wustl.edu 37 21 37408484 37408484 + Missense_Mutation SNP C C A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 21 37408484 37408484 C A SNP SETD4 ENST00000332131 human ensembl 74_37 -1 known missense c.1254 p.W418C 0.343 pfam_Rubisco_LSMT_subst-bd,pirsf_Lys_MTase_YDR198C_prd pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,pirsf_Lys_MTase_YDR198C_prd - no_errors SETD4 HGNC ENSG00000185917 tier1 - - 71 0 0.00 30 32 51.61 SI 0 genome.wustl.edu 37 3 164764732 164764732 + Missense_Mutation SNP C C A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 3 164764732 164764732 C A SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.1784 p.G595V 0.998 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 39 0 0.00 36 2 5.26 SLC12A4 0 genome.wustl.edu 37 16 67981292 67981292 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 16 67981292 67981292 C T SNP SLC12A4 ENST00000422611 human ensembl 74_37 -1 known missense c.2020 p.A674T 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A4 HGNC ENSG00000124067 tier1 - - 13 0 0.00 13 6 31.58 SLC18A2 0 genome.wustl.edu 37 10 119017399 119017399 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 10 119017399 119017399 G T SNP SLC18A2 ENST00000298472 human ensembl 74_37 +1 known missense c.987 p.Q329H 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A2 HGNC ENSG00000165646 tier1 - - 62 0 0.00 33 4 10.81 SLC22A1 0 genome.wustl.edu 37 6 160543205 160543205 + Missense_Mutation SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 6 160543205 160543205 G A SNP SLC22A1 ENST00000366963 human ensembl 74_37 +1 known missense c.238 p.A80T 0.000 tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A1 HGNC ENSG00000175003 tier1 - - 60 0 0.00 24 24 50.00 SLC25A5 0 genome.wustl.edu 37 X 118603756 118603756 + Missense_Mutation SNP T T A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e X 118603756 118603756 T A SNP SLC25A5 ENST00000317881 human ensembl 74_37 +1 known missense c.244 p.F82I 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor - no_errors SLC25A5 HGNC ENSG00000005022 22 0 0.00 25 4 13.79 SLC39A12 0 genome.wustl.edu 37 10 18267003 18267003 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 10 18267003 18267003 G T SNP SLC39A12 ENST00000377369 human ensembl 74_37 +1 known missense c.924 p.Q308H 1.000 NULL pfam_ZIP - no_errors SLC39A12 HGNC ENSG00000148482 tier1 - - 58 0 0.00 49 4 7.55 SLC5A2 0 genome.wustl.edu 37 16 31500047 31500047 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 16 31500047 31500047 C T SNP SLC5A2 ENST00000330498 human ensembl 74_37 +1 known missense c.1234 p.R412C 0.810 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A2 HGNC ENSG00000140675 tier1 - - 38 0 0.00 16 11 40.74 SLC7A7 0 genome.wustl.edu 37 14 23248143 23248143 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 14 23248143 23248143 G T SNP SLC7A7 ENST00000285850 human ensembl 74_37 -1 known missense c.629 p.A210D 0.902 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A7 HGNC ENSG00000155465 tier1 - - 46 0 0.00 69 4 5.48 SLITRK5 0 genome.wustl.edu 37 13 88327779 88327779 + Missense_Mutation SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 13 88327779 88327779 G A SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.136 p.E46K 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 tier1 - - 38 0 0.00 22 9 29.03 SMG8 0 genome.wustl.edu 37 17 57288948 57288948 + Missense_Mutation SNP G G C TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 17 57288948 57288948 G C SNP SMG8 ENST00000300917 human ensembl 74_37 +1 known missense c.1536 p.Q512H 1.000 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC ENSG00000167447 tier1 - - 38 0 0.00 47 7 12.96 SNAP25 0 genome.wustl.edu 37 20 10287451 10287452 + RNA DEL AC AC - TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 20 10287451 10287452 AC - DEL SNAP25 ENST00000495883 human ensembl 74_37 +1 known rna NULL NULL 0.884:0.856 - - - no_errors SNAP25 HGNC ENSG00000132639 tier1 29 0 0.00 44 5 10.20 SNX33 0 genome.wustl.edu 37 15 75942735 75942736 + Frame_Shift_Ins INS - - C TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 15 75942735 75942736 - C INS SNX33 ENST00000308527 human ensembl 74_37 +1 known frame_shift_ins c.1292_1293 p.F434fs 1.000:1.000 pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9 pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX33 HGNC ENSG00000173548 tier1 41 0 0.00 27 4 12.90 SORBS2 0 genome.wustl.edu 37 4 186598448 186598448 + Silent SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 4 186598448 186598448 G T SNP SORBS2 ENST00000437304 human ensembl 74_37 -1 putative silent c.195 p.T65 0.996 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SORBS2 HGNC ENSG00000154556 23 0 0.00 24 2 7.69 SPACA3 0 genome.wustl.edu 37 17 31324878 31324878 + RNA SNP A A T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 17 31324878 31324878 A T SNP SPACA3 ENST00000394637 human ensembl 74_37 +1 known rna NULL NULL 0.599 - - - no_errors SPACA3 HGNC ENSG00000141316 tier1 - - 17 0 0.00 13 7 35.00 SPATA18 0 genome.wustl.edu 37 4 52948682 52948682 + Silent SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 4 52948682 52948682 G A SNP SPATA18 ENST00000505320 human ensembl 74_37 +1 known silent c.1485 p.R495 1.000 NULL NULL - no_errors SPATA18 HGNC ENSG00000163071 tier1 - - 42 0 0.00 25 16 39.02 SPTA1 0 genome.wustl.edu 37 1 158621225 158621225 + Missense_Mutation SNP T T A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 1 158621225 158621225 T A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.3409 p.I1137F 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 58 0 0.00 29 45 60.81 SRGAP1 0 genome.wustl.edu 37 12 64474129 64474129 + Silent SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 12 64474129 64474129 C T SNP SRGAP1 ENST00000355086 human ensembl 74_37 +1 known silent c.1387 p.L463 1.000 NULL pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 tier1 - - 48 0 0.00 64 4 5.88 STAG2 0 genome.wustl.edu 37 X 123164976 123164977 + Splice_Site INS - - T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e X 123164976 123164977 - T INS STAG2 ENST00000218089 human ensembl 74_37 +1 known splice_site_ins c.288+1_288+1 e3+1 1.000:1.000 - - - no_errors STAG2 HGNC ENSG00000101972 tier1 41 0 0.00 12 47 79.66 STOX2 0 genome.wustl.edu 37 4 184930364 184930364 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 4 184930364 184930364 C T SNP STOX2 ENST00000308497 human ensembl 74_37 +1 known missense c.373 p.R125W 0.996 pfam_Storkhead-box_winged-helix pfam_Storkhead-box_winged-helix - no_errors STOX2 HGNC ENSG00000173320 tier1 - - 38 0 0.00 23 14 37.84 SYNJ1 0 genome.wustl.edu 37 21 34015720 34015720 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 21 34015720 34015720 C T SNP SYNJ1 ENST00000433931 human ensembl 74_37 -1 known missense c.3595 p.A1199T 1.000 NULL pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ1 HGNC ENSG00000159082 tier1 - - 64 0 0.00 52 37 41.57 SYNJ1 0 genome.wustl.edu 37 21 34045678 34045678 + Silent SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 21 34045678 34045678 G T SNP SYNJ1 ENST00000433931 human ensembl 74_37 -1 known silent c.1815 p.P605 0.998 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ1 HGNC ENSG00000159082 tier1 - - 48 0 0.00 80 5 5.88 TARS 0 genome.wustl.edu 37 5 33441009 33441009 + RNA SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 5 33441009 33441009 C T SNP TARS ENST00000502508 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TARS HGNC ENSG00000113407 tier1 - - 17 0 0.00 6 7 53.85 TAS2R7 0 genome.wustl.edu 37 12 10954756 10954756 + Silent SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 12 10954756 10954756 C T SNP TAS2R7 ENST00000240687 human ensembl 74_37 -1 known silent c.414 p.V138 0.002 pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R7 HGNC ENSG00000121377 tier1 - - 50 0 0.00 47 4 7.84 TDO2 0 genome.wustl.edu 37 4 156831349 156831349 + Missense_Mutation SNP C C A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 4 156831349 156831349 C A SNP TDO2 ENST00000536354 human ensembl 74_37 +1 known missense c.604 p.L202M 1.000 pfam_Trp_2_3_dOase pfam_Trp_2_3_dOase - no_errors TDO2 HGNC ENSG00000151790 24 0 0.00 18 2 10.00 TFDP2 0 genome.wustl.edu 37 3 141678557 141678557 + Missense_Mutation SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 3 141678557 141678557 G A SNP TFDP2 ENST00000489671 human ensembl 74_37 -1 known missense c.1010 p.A337V 1.000 pfam_Transc_factor_DP_C,pirsf_Transcrpt_fac_DP pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP - no_errors TFDP2 HGNC ENSG00000114126 60 0 0.00 38 2 5.00 TGIF1 0 genome.wustl.edu 37 18 3452189 3452189 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 18 3452189 3452189 C T SNP TGIF1 ENST00000330513 human ensembl 74_37 +1 known missense c.212 p.P71L 0.000 NULL pfam_Homeobox_KN_domain,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TGIF1 HGNC ENSG00000177426 tier1 - - 63 0 0.00 44 40 47.62 TIAM1 0 genome.wustl.edu 37 21 32492818 32492818 + Silent SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 21 32492818 32492818 G T SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known silent c.4644 p.S1548 0.999 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 48 0 0.00 36 2 5.26 TMC4 0 genome.wustl.edu 37 19 54666449 54666449 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 19 54666449 54666449 G T SNP TMC4 ENST00000301187 human ensembl 74_37 -1 known missense c.1459 p.L487M 1.000 pfam_TMC pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 tier1 - - 65 0 0.00 74 5 6.33 TMEM211 0 genome.wustl.edu 37 22 25334246 25334246 + Silent SNP A A G TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 22 25334246 25334246 A G SNP TMEM211 ENST00000423535 human ensembl 74_37 -1 known silent c.210 p.A70 0.642 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors TMEM211 HGNC ENSG00000206069 tier1 - - 53 0 0.00 37 4 9.76 TNRC6B 0 genome.wustl.edu 37 22 40661352 40661353 + Frame_Shift_Ins INS - - A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 22 40661352 40661353 - A INS TNRC6B ENST00000454349 human ensembl 74_37 +1 known frame_shift_ins c.1118_1119 p.N375fs 1.000:1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 tier1 38 0 0.00 24 2 7.69 TRIM77 0 genome.wustl.edu 37 11 89443572 89443572 + Missense_Mutation SNP A A G TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 11 89443572 89443572 A G SNP TRIM77 ENST00000398290 human ensembl 74_37 +1 known missense c.106 p.S36G 0.026 smart_Znf_RING,pfscan_Znf_RING pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM77 HGNC ENSG00000214414 tier1 - - 83 0 0.00 86 5 5.49 TRIM77 0 genome.wustl.edu 37 11 89450867 89450867 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 11 89450867 89450867 C T SNP TRIM77 ENST00000398290 human ensembl 74_37 +1 known missense c.1180 p.P394S 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM77 HGNC ENSG00000214414 tier1 - - 78 0 0.00 69 19 21.59 TRPC3 0 genome.wustl.edu 37 4 122853924 122853924 + Silent SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 4 122853924 122853924 G A SNP TRPC3 ENST00000379645 human ensembl 74_37 -1 known silent c.489 p.T163 0.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 tier1 - - 41 0 0.00 13 14 51.85 TSC2 0 genome.wustl.edu 37 16 2103376 2103376 + Missense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 16 2103376 2103376 G T SNP TSC2 ENST00000219476 human ensembl 74_37 +1 known missense c.259 p.D87Y 1.000 pfam_Tuberin_N,superfamily_ARM-type_fold pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 tier1 - - 94 0 0.00 24 16 40.00 TTN 0 genome.wustl.edu 37 2 179665314 179665314 + Missense_Mutation SNP G G C TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 2 179665314 179665314 G C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.391 p.P131A 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 23 0 0.00 35 2 5.41 TXNDC5 0 genome.wustl.edu 37 6 7889014 7889014 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 6 7889014 7889014 C T SNP TXNDC5 ENST00000379757 human ensembl 74_37 -1 known missense c.887 p.R296H 0.359 superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase - no_errors TXNDC5 HGNC ENSG00000239264 tier1 - - 71 0 0.00 60 4 6.25 UBQLN3 0 genome.wustl.edu 37 11 5530201 5530201 + Missense_Mutation SNP A A T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 11 5530201 5530201 A T SNP UBQLN3 ENST00000311659 human ensembl 74_37 -1 known missense c.588 p.H196Q 0.956 superfamily_ARM-type_fold,smart_STI1_HS-bd pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN3 HGNC ENSG00000175520 tier1 - - 75 0 0.00 43 29 40.28 UCKL1 0 genome.wustl.edu 37 20 62572380 62572380 + Missense_Mutation SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 20 62572380 62572380 G A SNP UCKL1 ENST00000354216 human ensembl 74_37 -1 known missense c.1039 p.R347C 1.000 NULL pfam_PRK/URK,pfam_CPT,superfamily_P-loop_NTPase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCKL1 HGNC ENSG00000198276 tier1 - - 56 0 0.00 46 24 33.80 USP6NL 0 genome.wustl.edu 37 10 11504478 11504478 + Silent SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 10 11504478 11504478 G T SNP USP6NL ENST00000379237 human ensembl 74_37 -1 known silent c.2518 p.R840 0.409 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors USP6NL HGNC ENSG00000148429 55 0 0.00 53 3 5.36 VWF 0 genome.wustl.edu 37 12 6080796 6080796 + Missense_Mutation SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 12 6080796 6080796 G A SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.7517 p.P2506L 0.000 pirsf_VWF pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 38 0 0.00 24 2 7.69 WDR66 0 genome.wustl.edu 37 12 122359236 122359236 + Nonsense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 12 122359236 122359236 C T SNP WDR66 ENST00000288912 human ensembl 74_37 +1 known nonsense c.25 p.R9* 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 26 0 0.00 29 3 9.38 WFDC9 0 genome.wustl.edu 37 20 44237432 44237432 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 20 44237432 44237432 C T SNP WFDC9 ENST00000326000 human ensembl 74_37 -1 known missense c.109 p.E37K 0.002 NULL NULL - no_errors WFDC9 HGNC ENSG00000180205 tier1 - - 46 0 0.00 70 21 23.08 XIRP2 0 genome.wustl.edu 37 2 168099625 168099625 + Nonsense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 2 168099625 168099625 C T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known nonsense c.1723 p.Q575* 1.000 pfam_Actin-binding_Xin_repeat pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 23 0 0.00 30 2 6.25 XPO4 0 genome.wustl.edu 37 13 21396395 21396395 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 13 21396395 21396395 C T SNP XPO4 ENST00000255305 human ensembl 74_37 -1 known missense c.874 p.A292T 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors XPO4 HGNC ENSG00000132953 24 0 0.00 41 4 8.89 ZBED4 0 genome.wustl.edu 37 22 50279480 50279480 + Nonsense_Mutation SNP G G T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 22 50279480 50279480 G T SNP ZBED4 ENST00000216268 human ensembl 74_37 +1 known nonsense c.2170 p.E724* 1.000 superfamily_RNaseH-like_dom pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED4 HGNC ENSG00000100426 31 0 0.00 29 2 6.45 ZCCHC8 0 genome.wustl.edu 37 12 122985317 122985317 + Missense_Mutation SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 12 122985317 122985317 G A SNP ZCCHC8 ENST00000336229 human ensembl 74_37 -1 known missense c.71 p.P24L 0.272 NULL pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC - no_errors ZCCHC8 HGNC ENSG00000033030 tier1 - - 37 0 0.00 53 14 20.90 ZMYM3 0 genome.wustl.edu 37 X 70472901 70472901 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e X 70472901 70472901 C T SNP ZMYM3 ENST00000373988 human ensembl 74_37 -1 known missense c.205 p.D69N 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM3 HGNC ENSG00000147130 tier1 - - 53 0 0.00 43 17 28.33 ZNF285 0 genome.wustl.edu 37 19 44890839 44890839 + Missense_Mutation SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 19 44890839 44890839 C T SNP ZNF285 ENST00000330997 human ensembl 74_37 -1 known missense c.1568 p.R523Q 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF285 HGNC ENSG00000267508 tier1 - - 63 0 0.00 55 48 46.60 ZNF705E 0 genome.wustl.edu 37 11 71526873 71526873 + RNA SNP G G A TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 11 71526873 71526873 G A SNP ZNF705E ENST00000525199 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF705E HGNC ENSG00000214534 tier1 - - 56 0 0.00 20 26 56.52 ZNF865 0 genome.wustl.edu 37 19 56126661 56126661 + Silent SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7a1853e1-b739-4c77-9b03-ce2e590953e8 f47b1dab-3bc6-4050-917e-5e94d4bb2c7e 19 56126661 56126661 C T SNP ZNF865 ENST00000568956 human ensembl 74_37 +1 novel silent c.1677 p.F559 0.955 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF865 HGNC ENSG00000261221 tier1 - - 16 0 0.00 20 5 20.00