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 ABCF2 0 genome.wustl.edu 37 7 150918758 150918758 + Missense_Mutation SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 7 150918758 150918758 C T SNP ABCF2 ENST00000222388 human ensembl 74_37 -1 known missense c.827 p.R276H 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF2 HGNC ENSG00000033050 tier1 - - 33 0 0.00 36 7 16.28 AGAP11 0 genome.wustl.edu 37 10 88760457 88760457 + RNA DEL T T - TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 10 88760457 88760457 T - DEL AGAP11 ENST00000444431 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors AGAP11 HGNC ENSG00000151303 tier1 36 0 0.00 18 5 21.74 AGTPBP1 0 genome.wustl.edu 37 9 88292466 88292466 + Silent SNP G G T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 9 88292466 88292466 G T SNP AGTPBP1 ENST00000376109 human ensembl 74_37 -1 known silent c.477 p.T159 0.998 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC ENSG00000135049 tier1 - - 14 0 0.00 20 5 20.00 AKAP12 0 genome.wustl.edu 37 6 151673538 151673538 + Missense_Mutation SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 6 151673538 151673538 G A SNP AKAP12 ENST00000253332 human ensembl 74_37 +1 known missense c.4012 p.V1338I 0.000 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 tier1 - - 39 0 0.00 30 10 25.00 ALB 0 genome.wustl.edu 37 4 74283887 74283887 + Missense_Mutation SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 4 74283887 74283887 C T SNP ALB ENST00000295897 human ensembl 74_37 +1 known missense c.1511 p.S504F 0.998 pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin/AFP pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin/AFP,prints_ALB/AFP/VDB - no_errors ALB HGNC ENSG00000163631 tier1 - - 34 0 0.00 29 6 17.14 ALOX5 0 genome.wustl.edu 37 10 45907711 45907711 + Silent SNP C C A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 10 45907711 45907711 C A SNP ALOX5 ENST00000374391 human ensembl 74_37 +1 known silent c.504 p.I168 1.000 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C,pfscan_PLAT/LH2_dom - no_errors ALOX5 HGNC ENSG00000012779 tier1 - - 62 0 0.00 39 23 37.10 ANK2 0 genome.wustl.edu 37 4 114276595 114276595 + Missense_Mutation SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 4 114276595 114276595 G A SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.6821 p.R2274H 0.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 tier1 - - 9 0 0.00 1 13 92.86 ANKRD16 0 genome.wustl.edu 37 10 5920183 5920183 + Silent SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 10 5920183 5920183 C T SNP ANKRD16 ENST00000380092 human ensembl 74_37 -1 known silent c.996 p.K332 0.694 smart_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD16 HGNC ENSG00000134461 tier1 - - 27 0 0.00 12 5 29.41 ANKRD20A5P 0 genome.wustl.edu 37 18 14225639 14225639 + RNA DEL A A - TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 18 14225639 14225639 A - DEL ANKRD20A5P ENST00000577614 human ensembl 74_37 +1 known rna NULL NULL 0.184 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 tier1 68 0 0.00 57 19 25.00 ARMC4 0 genome.wustl.edu 37 10 28229562 28229562 + Missense_Mutation SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 10 28229562 28229562 C T SNP ARMC4 ENST00000305242 human ensembl 74_37 -1 known missense c.1916 p.R639Q 0.001 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 tier1 rs148908705 - 28 0 0.00 20 9 31.03 ASIC2 0 genome.wustl.edu 37 17 31618690 31618690 + Missense_Mutation SNP C C G TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 17 31618690 31618690 C G SNP ASIC2 ENST00000225823 human ensembl 74_37 -1 known missense c.444 p.K148N 1.000 pfam_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC2 HGNC ENSG00000108684 tier1 - - 73 0 0.00 20 21 51.22 ATP6V1C2 0 genome.wustl.edu 37 2 10863041 10863041 + Missense_Mutation SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 2 10863041 10863041 G A SNP ATP6V1C2 ENST00000272238 human ensembl 74_37 +1 known missense c.66 p.M22I 1.000 pfam_ATPase_V1-cplx_csu pfam_ATPase_V1-cplx_csu - no_errors ATP6V1C2 HGNC ENSG00000143882 tier1 - - 83 0 0.00 45 10 18.18 ATPAF2 0 genome.wustl.edu 37 17 17925098 17925098 + Missense_Mutation SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 17 17925098 17925098 C T SNP ATPAF2 ENST00000474627 human ensembl 74_37 -1 known missense c.577 p.V193I 0.000 NULL pfam_ATP12_ATPase-F1F0-assembly - no_errors ATPAF2 HGNC ENSG00000171953 tier1 - - 24 0 0.00 13 13 50.00 ATRNL1 0 genome.wustl.edu 37 10 117221465 117221465 + Missense_Mutation SNP G G T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 10 117221465 117221465 G T SNP ATRNL1 ENST00000355044 human ensembl 74_37 +1 known missense c.3337 p.D1113Y 1.000 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 tier1 - - 32 0 0.00 45 28 38.36 BCL9 0 genome.wustl.edu 37 1 147096223 147096223 + Silent SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 1 147096223 147096223 G A SNP BCL9 ENST00000234739 human ensembl 74_37 +1 known silent c.3744 p.T1248 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 tier1 - - 38 0 0.00 45 5 10.00 BIN2 0 genome.wustl.edu 37 12 51717865 51717865 + Missense_Mutation SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 12 51717865 51717865 C T SNP BIN2 ENST00000267012 human ensembl 74_37 -1 known missense c.22 p.G8S 0.989 NULL pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin - no_errors BIN2 HGNC ENSG00000110934 tier1 - - 53 0 0.00 41 9 18.00 C10orf82 0 genome.wustl.edu 37 10 118425180 118425180 + Silent SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 10 118425180 118425180 G A SNP C10orf82 ENST00000588184 human ensembl 74_37 -1 known silent c.213 p.S71 0.012 NULL NULL - no_errors C10orf82 HGNC ENSG00000165863 tier1 - - 40 0 0.00 39 7 15.22 C17orf85 0 genome.wustl.edu 37 17 3719429 3719429 + Silent SNP T T G TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 17 3719429 3719429 T G SNP C17orf85 ENST00000389005 human ensembl 74_37 -1 known silent c.1446 p.P482 0.288 NULL pfam_DUF2414 - no_errors C17orf85 HGNC ENSG00000074356 tier1 - - 61 0 0.00 44 4 8.33 C3 0 genome.wustl.edu 37 19 6697509 6697509 + Missense_Mutation SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 19 6697509 6697509 C T SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.2642 p.R881H 0.064 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 tier1 - - 60 0 0.00 67 23 25.56 C4orf50 0 genome.wustl.edu 37 4 5981916 5981916 + Silent SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 4 5981916 5981916 C T SNP C4orf50 ENST00000531445 human ensembl 74_37 -1 known silent c.1575 p.E525 0.001 NULL NULL - no_errors C4orf50 HGNC ENSG00000181215 tier1 - - 46 0 0.00 48 10 17.24 CA8 0 genome.wustl.edu 37 8 61121437 61121437 + Silent SNP T T C TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 8 61121437 61121437 T C SNP CA8 ENST00000317995 human ensembl 74_37 -1 known silent c.780 p.A260 1.000 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 CA8 HGNC ENSG00000178538 tier1 - - 76 0 0.00 81 7 7.95 CACNB1 0 genome.wustl.edu 37 17 37343091 37343091 + Missense_Mutation SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 17 37343091 37343091 C T SNP CACNB1 ENST00000394303 human ensembl 74_37 -1 known missense c.506 p.R169H 1.000 superfamily_SH3_domain pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su - no_errors CACNB1 HGNC ENSG00000067191 tier1 - - 54 0 0.00 31 5 13.89 CC2D1B 0 genome.wustl.edu 37 1 52821306 52821306 + Missense_Mutation SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 1 52821306 52821306 G A SNP CC2D1B ENST00000371586 human ensembl 74_37 -1 known missense c.2179 p.R727W 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_DM14,smart_C2_dom - no_errors CC2D1B HGNC ENSG00000154222 tier1 - - 28 0 0.00 23 4 14.29 CCDC71 0 genome.wustl.edu 37 3 49201104 49201104 + Missense_Mutation SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 3 49201104 49201104 C T SNP CCDC71 ENST00000321895 human ensembl 74_37 -1 known missense c.538 p.E180K 1.000 NULL NULL - no_errors CCDC71 HGNC ENSG00000177352 tier1 - - 41 0 0.00 17 6 26.09 CDC40 0 genome.wustl.edu 37 6 110541037 110541037 + Silent SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 6 110541037 110541037 C T SNP CDC40 ENST00000307731 human ensembl 74_37 +1 known silent c.1305 p.S435 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC40 HGNC ENSG00000168438 tier1 - - 31 0 0.00 30 4 11.76 CELSR2 0 genome.wustl.edu 37 1 109816112 109816112 + Missense_Mutation SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 1 109816112 109816112 G A SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.8564 p.R2855Q 1.000 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 tier1 - - 21 0 0.00 12 8 40.00 CEP170B 0 genome.wustl.edu 37 14 105359964 105359964 + Silent SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 14 105359964 105359964 C T SNP CEP170B ENST00000453495 human ensembl 74_37 +1 known silent c.4251 p.D1417 0.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170B HGNC ENSG00000099814 tier1 - - 55 0 0.00 46 7 13.21 CLIP2 0 genome.wustl.edu 37 7 73790244 73790244 + Missense_Mutation SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 7 73790244 73790244 G A SNP CLIP2 ENST00000223398 human ensembl 74_37 +1 known missense c.1513 p.V505M 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 tier1 - - 35 0 0.00 20 11 35.48 CNGB1 0 genome.wustl.edu 37 16 57965772 57965772 + Silent SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 16 57965772 57965772 C T SNP CNGB1 ENST00000251102 human ensembl 74_37 -1 known silent c.1383 p.T461 0.000 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 tier1 - - 65 0 0.00 30 4 11.76 COL9A3 0 genome.wustl.edu 37 20 61472147 61472147 + RNA SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 20 61472147 61472147 C T SNP COL9A3 ENST00000462700 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors COL9A3 HGNC ENSG00000092758 tier1 - - 25 0 0.00 24 13 35.14 CSNK1A1 0 genome.wustl.edu 37 5 148876034 148876034 + RNA SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 5 148876034 148876034 G A SNP CSNK1A1 ENST00000412431 human ensembl 74_37 -1 known rna NULL NULL 0.985 - - - no_errors CTB-89H12.4 Clone_based_vega_gene ENSG00000230551 tier1 - - 17 0 0.00 10 5 33.33 DDX3X 0 genome.wustl.edu 37 X 41198321 41198321 + Nonsense_Mutation SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 X 41198321 41198321 C T SNP DDX3X ENST00000399959 human ensembl 74_37 +1 known nonsense c.136 p.R46* 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3X HGNC ENSG00000215301 tier1 - - 23 0 0.00 14 11 44.00 DDX3Y 0 genome.wustl.edu 37 Y 15029443 15029443 + Missense_Mutation SNP G G T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 Y 15029443 15029443 G T SNP DDX3Y ENST00000336079 human ensembl 74_37 +1 known missense c.1892 p.G631V 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3Y HGNC ENSG00000067048 tier1 - - 48 0 0.00 30 4 11.76 DIAPH1 0 genome.wustl.edu 37 5 140957145 140957145 + Missense_Mutation SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 5 140957145 140957145 C T SNP DIAPH1 ENST00000253811 human ensembl 74_37 -1 known missense c.1177 p.V393I 1.000 pfam_FH3_dom,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DIAPH1 HGNC ENSG00000131504 tier1 - - 36 0 0.00 1 35 97.22 DLGAP4 0 genome.wustl.edu 37 20 35060728 35060728 + Missense_Mutation SNP G G T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 20 35060728 35060728 G T SNP DLGAP4 ENST00000339266 human ensembl 74_37 +1 known missense c.608 p.G203V 1.000 NULL pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 tier1 - - 51 0 0.00 76 5 6.17 DMXL1 0 genome.wustl.edu 37 5 118556217 118556217 + Silent SNP G G C TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 5 118556217 118556217 G C SNP DMXL1 ENST00000539542 human ensembl 74_37 +1 known silent c.8064 p.L2688 0.998 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 tier1 - - 24 0 0.00 22 5 18.52 DNAJB8-AS1 0 genome.wustl.edu 37 3 128182859 128182859 + RNA SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 3 128182859 128182859 C T SNP DNAJB8-AS1 ENST00000471626 human ensembl 74_37 +1 known rna NULL NULL 0.265 - - - no_errors DNAJB8-AS1 HGNC ENSG00000242049 tier1 - - 29 0 0.00 16 14 46.67 DNTTIP1 0 genome.wustl.edu 37 20 44424079 44424079 + Missense_Mutation SNP G G T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 20 44424079 44424079 G T SNP DNTTIP1 ENST00000372622 human ensembl 74_37 +1 known missense c.369 p.E123D 0.995 NULL NULL - no_errors DNTTIP1 HGNC ENSG00000101457 tier1 - - 28 0 0.00 20 6 23.08 DYSF 0 genome.wustl.edu 37 2 71827929 71827929 + Nonsense_Mutation SNP C C A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 2 71827929 71827929 C A SNP DYSF ENST00000413539 human ensembl 74_37 +1 known nonsense c.3893 p.S1298* 0.813 superfamily_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 tier1 - - 64 0 0.00 41 10 19.61 EHBP1 0 genome.wustl.edu 37 2 63091905 63091905 + Missense_Mutation SNP A A T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 2 63091905 63091905 A T SNP EHBP1 ENST00000263991 human ensembl 74_37 +1 known missense c.902 p.D301V 0.997 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENSG00000115504 tier1 - - 21 0 0.00 2 18 90.00 EHMT1 0 genome.wustl.edu 37 9 140611421 140611421 + Silent SNP G G T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 9 140611421 140611421 G T SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known silent c.429 p.L143 0.920 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 tier1 - - 36 0 0.00 63 4 5.97 EHMT2-AS1 0 genome.wustl.edu 37 6 31851546 31851546 + RNA SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 6 31851546 31851546 G A SNP EHMT2-AS1 ENST00000434689 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors EHMT2-AS1 HGNC ENSG00000237080 tier1 - - 46 0 0.00 42 10 19.23 EIF3E 0 genome.wustl.edu 37 8 109252218 109252218 + Missense_Mutation SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 8 109252218 109252218 G A SNP EIF3E ENST00000220849 human ensembl 74_37 -1 known missense c.292 p.P98S 1.000 pfam_eIF3e_N,pirsf_eIF3e pfam_eIF3e_N,pfam_PCI_dom,smart_PCI_dom,pirsf_eIF3e - no_errors EIF3E HGNC ENSG00000104408 tier1 - - 74 0 0.00 150 37 19.79 ELAC2 0 genome.wustl.edu 37 17 12899085 12899085 + Frame_Shift_Del DEL G G - TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 17 12899085 12899085 G - DEL ELAC2 ENST00000338034 human ensembl 74_37 -1 known frame_shift_del c.1743 p.N582fs 0.002 pfam_Beta-lactamas-like pfam_Beta-lactamas-like - no_errors ELAC2 HGNC ENSG00000006744 tier1 25 0 0.00 25 4 13.79 ENSG00000225411 0 genome.wustl.edu 37 9 68400476 68400476 + RNA SNP G G C TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 9 68400476 68400476 G C SNP ENSG00000225411 ENST00000417843 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 tier1 - - 19 0 0.00 11 3 21.43 ENSG00000225891 0 genome.wustl.edu 37 1 26793747 26793747 + RNA SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 1 26793747 26793747 C T SNP ENSG00000225891 ENST00000423060 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP3-476K8.3 Clone_based_vega_gene ENSG00000225891 tier1 - - 42 0 0.00 32 12 27.27 ENSG00000232675 0 genome.wustl.edu 37 20 19673859 19673860 + RNA INS - - TTA TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 20 19673859 19673860 - TTA INS ENSG00000232675 ENST00000435992 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP4-718D20.3 Clone_based_vega_gene ENSG00000232675 tier1 14 0 0.00 9 6 40.00 ENSG00000250404 0 genome.wustl.edu 37 11 3838572 3838572 + RNA SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 11 3838572 3838572 G A SNP ENSG00000250404 ENST00000507938 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors AC090587.2 Clone_based_vega_gene ENSG00000250404 tier1 - - 56 0 0.00 39 26 40.00 EP300 0 genome.wustl.edu 37 22 41568668 41568668 + Splice_Site SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 22 41568668 41568668 G A SNP EP300 ENST00000263253 human ensembl 74_37 +1 known splice_site c.4617+1 e28+1 1.000 - - - no_errors EP300 HGNC ENSG00000100393 tier1 - - 28 0 0.00 3 27 90.00 FAM157C 0 genome.wustl.edu 37 16 90168697 90168697 + RNA DEL A A - TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 16 90168697 90168697 A - DEL FAM157C ENST00000563357 human ensembl 74_37 +1 known rna NULL NULL 0.019 - - - no_errors FAM157C HGNC ENSG00000260528 tier1 71 0 0.00 36 6 14.29 FAM71A 0 genome.wustl.edu 37 1 212798804 212798804 + Missense_Mutation SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 1 212798804 212798804 G A SNP FAM71A ENST00000294829 human ensembl 74_37 +1 known missense c.585 p.M195I 0.917 NULL pfam_DUF3699 - no_errors FAM71A HGNC ENSG00000162771 tier1 - - 20 0 0.00 25 23 47.92 FHOD1 0 genome.wustl.edu 37 16 67264528 67264528 + Missense_Mutation SNP A A G TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 16 67264528 67264528 A G SNP FHOD1 ENST00000258201 human ensembl 74_37 -1 known missense c.2834 p.I945T 0.961 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD1 HGNC ENSG00000135723 tier1 - - 62 0 0.00 4 13 76.47 GABRE 0 genome.wustl.edu 37 X 151138169 151138169 + Missense_Mutation SNP C C A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 X 151138169 151138169 C A SNP GABRE ENST00000370328 human ensembl 74_37 -1 known missense c.314 p.S105I 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAe_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRE HGNC ENSG00000102287 tier1 - - 34 0 0.00 4 22 84.62 GALNT18 0 genome.wustl.edu 37 11 11314686 11314686 + Missense_Mutation SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 11 11314686 11314686 C T SNP GALNT18 ENST00000227756 human ensembl 74_37 -1 known missense c.1567 p.V523M 0.002 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT18 HGNC ENSG00000110328 tier1 - - 39 0 0.00 31 19 38.00 GAS7 0 genome.wustl.edu 37 17 9862555 9862555 + Silent SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 17 9862555 9862555 C T SNP GAS7 ENST00000432992 human ensembl 74_37 -1 known silent c.489 p.S163 0.961 NULL pfam_FCH_dom,pfam_WW_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_WW_dom,smart_SH3_domain,smart_WW_dom,smart_FCH_dom,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_WW_dom - no_errors GAS7 HGNC ENSG00000007237 tier1 rs142589082 - 54 0 0.00 45 11 19.64 GINS3 0 genome.wustl.edu 37 16 58329008 58329008 + RNA SNP G G T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 16 58329008 58329008 G T SNP GINS3 ENST00000567400 human ensembl 74_37 +1 putative rna NULL NULL 0.200 - - - no_errors GINS3 HGNC ENSG00000181938 tier1 - - 65 0 0.00 26 4 13.33 GLUD2 0 genome.wustl.edu 37 X 120182379 120182379 + Nonsense_Mutation SNP G G T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 X 120182379 120182379 G T SNP GLUD2 ENST00000328078 human ensembl 74_37 +1 known nonsense c.841 p.E281* 1.000 pfam_Glu/Leu/Phe/Val_DH_C,smart_Glu/Leu/Phe/Val_DH_C pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD2 HGNC ENSG00000182890 tier1 - - 42 0 0.00 32 5 13.51 GMPPA 0 genome.wustl.edu 37 2 220364857 220364857 + Missense_Mutation SNP C C G TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 2 220364857 220364857 C G SNP GMPPA ENST00000313597 human ensembl 74_37 +1 known missense c.55 p.P19A 1.000 pfam_NTP_transferase pfam_NTP_transferase - no_errors GMPPA HGNC ENSG00000144591 tier1 - - 80 0 0.00 23 8 25.81 GOLGA8EP 0 genome.wustl.edu 37 15 23445535 23445535 + RNA SNP A A G TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 15 23445535 23445535 A G SNP GOLGA8EP ENST00000526079 human ensembl 74_37 +1 known rna NULL NULL 0.047 - - - no_errors GOLGA8EP HGNC ENSG00000175676 tier1 - - 80 0 0.00 10 40 80.00 GPR37L1 0 genome.wustl.edu 37 1 202092359 202092359 + Missense_Mutation SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 1 202092359 202092359 G A SNP GPR37L1 ENST00000367282 human ensembl 74_37 +1 known missense c.268 p.G90S 0.003 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37L1 HGNC ENSG00000170075 tier1 - - 36 0 0.00 30 14 31.82 HIC2 0 genome.wustl.edu 37 22 21799838 21799839 + Frame_Shift_Ins INS - - T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 22 21799838 21799839 - T INS HIC2 ENST00000407464 human ensembl 74_37 +1 known frame_shift_ins c.654_655 p.C218fs 0.336:0.369 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC2 HGNC ENSG00000169635 tier1 8 0 0.00 4 2 33.33 IL23R 0 genome.wustl.edu 37 1 67724850 67724850 + RNA SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 1 67724850 67724850 C T SNP IL23R ENST00000473881 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors IL23R HGNC ENSG00000162594 tier1 - - 17 0 0.00 2 21 91.30 IMPG1 0 genome.wustl.edu 37 6 76728472 76728472 + Missense_Mutation SNP G G T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 6 76728472 76728472 G T SNP IMPG1 ENST00000369950 human ensembl 74_37 -1 known missense c.770 p.P257Q 0.212 pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG1 HGNC ENSG00000112706 tier1 - - 37 0 0.00 15 18 54.55 ISL2 0 genome.wustl.edu 37 15 76632669 76632669 + Missense_Mutation SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 15 76632669 76632669 G A SNP ISL2 ENST00000558656 human ensembl 74_37 +1 known missense c.301 p.G101R 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors ISL2 HGNC ENSG00000159556 tier1 - - 27 0 0.00 17 8 32.00 ITGAL 0 genome.wustl.edu 37 16 30522255 30522255 + Silent SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 16 30522255 30522255 G A SNP ITGAL ENST00000356798 human ensembl 74_37 +1 known silent c.2673 p.S891 0.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAL HGNC ENSG00000005844 tier1 - - 41 0 0.00 15 3 16.67 ITGB2 0 genome.wustl.edu 37 21 46320286 46320286 + Silent SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 21 46320286 46320286 G A SNP ITGB2 ENST00000302347 human ensembl 74_37 -1 known silent c.846 p.N282 0.153 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB2 HGNC ENSG00000160255 tier1 - - 75 0 0.00 84 9 9.68 JAKMIP3 0 genome.wustl.edu 37 10 133946999 133946999 + Missense_Mutation SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 10 133946999 133946999 G A SNP JAKMIP3 ENST00000298622 human ensembl 74_37 +1 known missense c.817 p.A273T 1.000 NULL NULL - no_errors JAKMIP3 HGNC ENSG00000188385 tier1 - - 25 0 0.00 16 8 33.33 KALRN 0 genome.wustl.edu 37 3 124281861 124281861 + Missense_Mutation SNP G G C TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 3 124281861 124281861 G C SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.5101 p.V1701L 1.000 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 tier1 - - 38 0 0.00 33 19 36.54 KCNT1 0 genome.wustl.edu 37 9 138662861 138662861 + Missense_Mutation SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 9 138662861 138662861 G A SNP KCNT1 ENST00000298480 human ensembl 74_37 +1 known missense c.1928 p.R643Q 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT1 HGNC ENSG00000107147 tier1 rs141281093 - 50 0 0.00 60 5 7.69 KIAA1279 0 genome.wustl.edu 37 10 70775906 70775906 + Missense_Mutation SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 10 70775906 70775906 C T SNP KIAA1279 ENST00000361983 human ensembl 74_37 +1 known missense c.1600 p.H534Y 1.000 pfam_KBP pfam_KBP - no_errors KIAA1279 HGNC ENSG00000198954 tier1 - - 42 0 0.00 38 11 22.45 KIR3DL2 0 genome.wustl.edu 37 19 55378146 55378146 + Missense_Mutation SNP G G T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 19 55378146 55378146 G T SNP KIR3DL2 ENST00000326321 human ensembl 74_37 +1 known missense c.1328 p.C443F 0.000 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DL2 HGNC ENSG00000240403 tier1 - - 49 0 0.00 35 5 12.50 KLHL33 0 genome.wustl.edu 37 14 20898614 20898614 + Missense_Mutation SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 14 20898614 20898614 C T SNP KLHL33 ENST00000344581 human ensembl 74_37 -1 known missense c.221 p.R74H 0.651 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BACK,smart_Kelch_1 - no_errors KLHL33 HGNC ENSG00000185271 tier1 - - 26 0 0.00 30 8 21.05 KPNB1 0 genome.wustl.edu 37 17 45750492 45750492 + Missense_Mutation SNP G G T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 17 45750492 45750492 G T SNP KPNB1 ENST00000290158 human ensembl 74_37 +1 known missense c.1656 p.L552F 0.952 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,pfam_Armadillo,superfamily_ARM-type_fold,smart_Importin-beta_N,smart_Armadillo,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors KPNB1 HGNC ENSG00000108424 tier1 - - 66 0 0.00 26 7 21.21 LMOD1 0 genome.wustl.edu 37 1 201915358 201915358 + Silent SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 1 201915358 201915358 G A SNP LMOD1 ENST00000367288 human ensembl 74_37 -1 known silent c.111 p.D37 0.963 pfam_Tropomodulin pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors LMOD1 HGNC ENSG00000163431 tier1 - - 58 0 0.00 76 22 22.45 LOC101930643 0 genome.wustl.edu 37 1 93730253 93730253 + RNA SNP T T C TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 1 93730253 93730253 T C SNP LOC101930643 ENST00000414430 human ensembl 74_37 -1 known rna NULL NULL 0.112 - - - no_errors RP4-717I23.3 Clone_based_vega_gene ENSG00000223745 tier1 - - 12 0 0.00 7 4 36.36 LTBP2 0 genome.wustl.edu 37 14 74974791 74974791 + Silent SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 14 74974791 74974791 G A SNP LTBP2 ENST00000261978 human ensembl 74_37 -1 known silent c.3660 p.D1220 0.995 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 tier1 - - 31 0 0.00 27 5 15.62 MAGEB6 0 genome.wustl.edu 37 X 26213137 26213137 + Nonsense_Mutation SNP G G T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 X 26213137 26213137 G T SNP MAGEB6 ENST00000379034 human ensembl 74_37 +1 known nonsense c.1174 p.E392* 0.037 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB6 HGNC ENSG00000176746 tier1 - - 55 0 0.00 26 4 13.33 MAGI1 0 genome.wustl.edu 37 3 65425588 65425589 + In_Frame_Ins INS - - TGT TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 3 65425588 65425589 - TGT INS MAGI1 ENST00000402939 human ensembl 74_37 -1 known in_frame_ins c.1236_1235 p.416in_frame_insQ 0.423:0.413 NULL pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 tier1 61 0 0.00 53 9 14.52 MALAT1 0 genome.wustl.edu 37 11 65268480 65268480 + RNA DEL T T - TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 11 65268480 65268480 T - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 36 0 0.00 32 2 5.88 MAN2B2 0 genome.wustl.edu 37 4 6578408 6578408 + Missense_Mutation SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 4 6578408 6578408 G A SNP MAN2B2 ENST00000285599 human ensembl 74_37 +1 known missense c.242 p.R81Q 1.000 pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B2 HGNC ENSG00000013288 tier1 - - 39 0 0.00 31 7 18.42 MAP3K6 0 genome.wustl.edu 37 1 27685091 27685091 + Nonsense_Mutation SNP G G T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 1 27685091 27685091 G T SNP MAP3K6 ENST00000357582 human ensembl 74_37 -1 known nonsense c.2595 p.Y865* 1.000 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 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K6 HGNC ENSG00000142733 tier1 - - 44 0 0.00 57 4 6.56 MAPK8IP3 0 genome.wustl.edu 37 16 1814194 1814194 + Frame_Shift_Del DEL A A - TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 16 1814194 1814194 A - DEL MAPK8IP3 ENST00000250894 human ensembl 74_37 +1 known frame_shift_del c.2101 p.K701fs 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC ENSG00000138834 tier1 27 0 0.00 7 2 22.22 MAST2 0 genome.wustl.edu 37 1 46497918 46497918 + Missense_Mutation SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 1 46497918 46497918 C T SNP MAST2 ENST00000361297 human ensembl 74_37 +1 known missense c.3256 p.R1086W 1.000 superfamily_PDZ pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST2 HGNC ENSG00000086015 tier1 - - 58 0 0.00 31 40 56.34 MBLAC1 0 genome.wustl.edu 37 7 99725388 99725388 + Missense_Mutation SNP G G T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 7 99725388 99725388 G T SNP MBLAC1 ENST00000398075 human ensembl 74_37 +1 known missense c.370 p.G124W 1.000 pfam_Beta-lactamas-like,smart_Beta-lactamas-like pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors MBLAC1 HGNC ENSG00000214309 tier1 - - 33 0 0.00 39 12 23.53 MDC1 0 genome.wustl.edu 37 6 30671587 30671587 + Silent SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 6 30671587 30671587 C T SNP MDC1 ENST00000376406 human ensembl 74_37 -1 known silent c.5373 p.V1791 0.000 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 tier1 - - 23 0 0.00 15 8 34.78 MESP2 0 genome.wustl.edu 37 15 90321579 90321579 + RNA SNP C C G TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 15 90321579 90321579 C G SNP MESP2 ENST00000558723 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MESP2 HGNC ENSG00000188095 tier1 - - 21 0 0.00 2 12 85.71 MGRN1 0 genome.wustl.edu 37 16 4714709 4714709 + Splice_Site SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 16 4714709 4714709 G A SNP MGRN1 ENST00000262370 human ensembl 74_37 +1 known splice_site c.562-1 e6-1 1.000 - - - no_errors MGRN1 HGNC ENSG00000102858 tier1 - - 94 0 0.00 44 12 21.43 MIR624 0 genome.wustl.edu 37 14 31483858 31483858 + RNA SNP G G T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 14 31483858 31483858 G T SNP MIR624 ENST00000385217 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors MIR624 HGNC ENSG00000207952 tier1 - - 63 0 0.00 70 6 7.79 MMP17 0 genome.wustl.edu 37 12 132335615 132335615 + Silent SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 12 132335615 132335615 G A SNP MMP17 ENST00000360564 human ensembl 74_37 +1 known silent c.1608 p.V536 0.000 NULL pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP17 HGNC ENSG00000198598 tier1 - - 77 0 0.00 64 14 17.95 MT-CO1 0 genome.wustl.edu 37 MT 7428 7428 + Missense_Mutation SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 MT 7428 7428 G A SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.1525 p.V509M NULL superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 - - 105 0 0.00 5 71 93.42 MYCBPAP 0 genome.wustl.edu 37 17 48597137 48597137 + Missense_Mutation SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 17 48597137 48597137 G A SNP MYCBPAP ENST00000323776 human ensembl 74_37 +1 known missense c.1034 p.R345Q 0.189 NULL NULL - no_errors MYCBPAP HGNC ENSG00000136449 tier1 - - 32 0 0.00 21 4 16.00 NBPF1 0 genome.wustl.edu 37 1 16902825 16902825 + Missense_Mutation SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 1 16902825 16902825 G A SNP NBPF1 ENST00000432949 human ensembl 74_37 -1 known missense c.430 p.L144F 0.002 NULL pfam_NBPF_dom - no_errors NBPF1 HGNC ENSG00000219481 tier1 - - 380 0 0.00 270 74 21.51 NCOA3 0 genome.wustl.edu 37 20 46279834 46279836 + In_Frame_Del DEL CAA CAA - TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 CAA CAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 20 46279834 46279836 CAA - DEL NCOA3 ENST00000371998 human ensembl 74_37 +1 known in_frame_del c.3760_3762 p.Q1257in_frame_del 0.527:0.539:0.525 pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA3 HGNC ENSG00000124151 tier1 32 0 0.00 46 5 9.80 NFKB2 0 genome.wustl.edu 37 10 104161038 104161038 + Nonsense_Mutation SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 10 104161038 104161038 C T SNP NFKB2 ENST00000369966 human ensembl 74_37 +1 known nonsense c.2173 p.R725* 0.003 NULL pfam_RHD,pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like_dom,smart_IPT,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_Dor,prints_Ankyrin_rpt - no_errors NFKB2 HGNC ENSG00000077150 tier1 - - 36 0 0.00 24 6 20.00 NOTCH1 0 genome.wustl.edu 37 9 139399766 139399766 + Missense_Mutation SNP A A G TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 9 139399766 139399766 A G SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known missense c.4582 p.C1528R 1.000 superfamily_Notch_dom,smart_Notch_dom,pirsf_Notch,pfscan_Notch_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 tier1 - - 18 0 0.00 6 17 73.91 NPAS2 0 genome.wustl.edu 37 2 101549417 101549417 + Missense_Mutation SNP A A G TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 2 101549417 101549417 A G SNP NPAS2 ENST00000542504 human ensembl 74_37 +1 known missense c.422 p.K141R 1.000 superfamily_bHLH_dom,prints_Nuc_translocat pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors NPAS2 HGNC ENSG00000170485 tier1 - - 19 0 0.00 7 11 61.11 NPR1 0 genome.wustl.edu 37 1 153655047 153655047 + Silent SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 1 153655047 153655047 C T SNP NPR1 ENST00000368680 human ensembl 74_37 +1 known silent c.1245 p.P415 0.919 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR1 HGNC ENSG00000169418 tier1 rs201584708 - 57 0 0.00 85 11 11.46 NTRK3 0 genome.wustl.edu 37 15 88420209 88420209 + Missense_Mutation SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 15 88420209 88420209 G A SNP NTRK3 ENST00000360948 human ensembl 74_37 -1 known missense c.2477 p.A826V 0.905 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC ENSG00000140538 tier1 - - 66 0 0.00 49 8 14.04 ODF3L1 0 genome.wustl.edu 37 15 76019672 76019672 + Nonsense_Mutation SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 15 76019672 76019672 C T SNP ODF3L1 ENST00000332145 human ensembl 74_37 +1 known nonsense c.616 p.R206* 0.486 NULL pfam_SHIPPO-rpt - no_errors ODF3L1 HGNC ENSG00000182950 tier1 - - 35 0 0.00 15 25 62.50 OPN4 0 genome.wustl.edu 37 10 88422152 88422152 + Missense_Mutation SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 10 88422152 88422152 G A SNP OPN4 ENST00000372071 human ensembl 74_37 +1 known missense c.1250 p.R417Q 0.005 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN4 HGNC ENSG00000122375 tier1 - - 89 0 0.00 55 11 16.67 OR4A16 0 genome.wustl.edu 37 11 55110876 55110876 + Missense_Mutation SNP T T C TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 11 55110876 55110876 T C SNP OR4A16 ENST00000314721 human ensembl 74_37 +1 known missense c.200 p.M67T 0.966 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 tier1 - - 40 0 0.00 46 7 13.21 OR51F2 0 genome.wustl.edu 37 11 4842865 4842865 + Missense_Mutation SNP G G T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 11 4842865 4842865 G T SNP OR51F2 ENST00000322110 human ensembl 74_37 +1 known missense c.250 p.D84Y 1.000 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 OR51F2 HGNC ENSG00000176925 tier1 - - 50 0 0.00 55 29 34.52 OR51G2 0 genome.wustl.edu 37 11 4936276 4936276 + Silent SNP A A G TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 11 4936276 4936276 A G SNP OR51G2 ENST00000322013 human ensembl 74_37 -1 known silent c.618 p.F206 0.996 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 OR51G2 HGNC ENSG00000176893 tier1 - - 39 0 0.00 41 16 28.07 PAPD7 0 genome.wustl.edu 37 5 6755014 6755014 + Missense_Mutation SNP C C A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 5 6755014 6755014 C A SNP PAPD7 ENST00000230859 human ensembl 74_37 +1 known missense c.1585 p.H529N 1.000 NULL pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD7 HGNC ENSG00000112941 tier1 - - 30 0 0.00 4 7 63.64 PCDH8 0 genome.wustl.edu 37 13 53418936 53418936 + Missense_Mutation SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 13 53418936 53418936 G A SNP PCDH8 ENST00000377942 human ensembl 74_37 -1 known missense c.2972 p.T991M 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH8 HGNC ENSG00000136099 tier1 - - 43 0 0.00 1 31 96.88 PCDHB7 0 genome.wustl.edu 37 5 140554656 140554656 + Missense_Mutation SNP A A G TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 5 140554656 140554656 A G SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known missense c.2240 p.Y747C 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 tier1 - - 100 0 0.00 4 70 94.59 PDZD2 0 genome.wustl.edu 37 5 32108657 32108657 + RNA SNP T T C TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 5 32108657 32108657 T C SNP PDZD2 ENST00000397559 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PDZD2 HGNC ENSG00000133401 tier1 - - 24 0 0.00 1 6 85.71 PHF20 0 genome.wustl.edu 37 20 34505482 34505482 + Silent SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 20 34505482 34505482 G A SNP PHF20 ENST00000374012 human ensembl 74_37 +1 known silent c.1902 p.V634 0.999 NULL pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2 - no_errors PHF20 HGNC ENSG00000025293 tier1 - - 74 0 0.00 26 64 70.33 PI4KAP2 0 genome.wustl.edu 37 22 21829514 21829517 + RNA DEL TGTC TGTC - TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 TGTC TGTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 22 21829514 21829517 TGTC - DEL PI4KAP2 ENST00000450651 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000:1.000:1.000 - - - no_errors PI4KAP2 HGNC ENSG00000183506 tier1 40 0 0.00 8 8 50.00 PIP5K1B 0 genome.wustl.edu 37 9 71439055 71439055 + Missense_Mutation SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 9 71439055 71439055 C T SNP PIP5K1B ENST00000478500 human ensembl 74_37 +1 known missense c.113 p.P38L 0.000 NULL pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1B HGNC ENSG00000107242 tier1 - - 51 0 0.00 24 27 52.94 PKD2 0 genome.wustl.edu 37 4 88929174 88929176 + In_Frame_Del DEL GAG GAG - TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 4 88929174 88929176 GAG - DEL PKD2 ENST00000237596 human ensembl 74_37 +1 known in_frame_del c.289_291 p.E100in_frame_del 1.000:1.000:1.000 NULL pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2 HGNC ENSG00000118762 tier1 22 0 0.00 14 2 12.50 PLCB3 0 genome.wustl.edu 37 11 64033845 64033845 + Missense_Mutation SNP G G T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 11 64033845 64033845 G T SNP PLCB3 ENST00000279230 human ensembl 74_37 +1 known missense c.3325 p.A1109S 1.000 pirsf_PLC-beta,pfam_PLC-beta_C pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,pfam_PLC-beta_CS,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 PLCB3 HGNC ENSG00000149782 tier1 - - 17 0 0.00 11 8 42.11 PLEKHA6 0 genome.wustl.edu 37 1 204237354 204237354 + Silent SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 1 204237354 204237354 C T SNP PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known silent c.189 p.A63 0.295 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 tier1 - - 40 0 0.00 65 12 15.58 PLEKHG3 0 genome.wustl.edu 37 14 65197520 65197520 + Silent SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 14 65197520 65197520 C T SNP PLEKHG3 ENST00000394691 human ensembl 74_37 +1 known silent c.570 p.S190 0.002 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC ENSG00000126822 tier1 - - 42 0 0.00 47 22 31.88 POLR2H 0 genome.wustl.edu 37 3 184086034 184086034 + Nonsense_Mutation SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 3 184086034 184086034 C T SNP POLR2H ENST00000429568 human ensembl 74_37 +1 novel nonsense c.469 p.R157* 0.987 NULL pfam_RNA_pol_Rpb8,superfamily_NA-bd_OB-fold,smart_RNA_pol_Rpb8 - no_errors POLR2H HGNC ENSG00000163882 tier1 - - 51 0 0.00 65 26 28.57 POTEA 0 genome.wustl.edu 37 8 43152432 43152432 + RNA SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 8 43152432 43152432 G A SNP POTEA ENST00000522175 human ensembl 74_37 +1 known rna NULL NULL 0.842 - - - no_errors POTEA HGNC ENSG00000188877 tier1 - - 126 0 0.00 128 18 12.33 PRDM2 0 genome.wustl.edu 37 1 14107528 14107528 + Missense_Mutation SNP G G T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 1 14107528 14107528 G T SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known missense c.3238 p.A1080S 0.992 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 tier1 - - 39 0 0.00 33 4 10.81 PRRC2B 0 genome.wustl.edu 37 9 134321903 134321903 + Silent SNP C C G TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 9 134321903 134321903 C G SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known silent c.729 p.S243 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 tier1 - - 61 0 0.00 74 11 12.94 QRSL1 0 genome.wustl.edu 37 6 107096922 107096922 + Missense_Mutation SNP T T G TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 6 107096922 107096922 T G SNP QRSL1 ENST00000369046 human ensembl 74_37 +1 known missense c.403 p.F135V 0.998 pfam_Amidase,superfamily_Amidase_dom,tigrfam_GatA pfam_Amidase,superfamily_Amidase_dom,tigrfam_GatA - no_errors QRSL1 HGNC ENSG00000130348 tier1 - - 23 0 0.00 4 25 86.21 RCN3 0 genome.wustl.edu 37 19 50031852 50031852 + Silent SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 19 50031852 50031852 C T SNP RCN3 ENST00000270645 human ensembl 74_37 +1 known silent c.123 p.S41 0.998 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors RCN3 HGNC ENSG00000142552 tier1 - - 33 0 0.00 1 21 95.45 REXO1 0 genome.wustl.edu 37 19 1823683 1823683 + Silent SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 19 1823683 1823683 C T SNP REXO1 ENST00000170168 human ensembl 74_37 -1 known silent c.2118 p.A706 0.998 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1 HGNC ENSG00000079313 tier1 - - 17 0 0.00 3 5 62.50 RMND1 0 genome.wustl.edu 37 6 151742424 151742424 + Silent SNP A A T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 6 151742424 151742424 A T SNP RMND1 ENST00000367303 human ensembl 74_37 -1 known silent c.1035 p.S345 1.000 pfam_DUF155 pfam_DUF155 - no_errors RMND1 HGNC ENSG00000155906 tier1 - - 47 0 0.00 30 14 31.82 RNLS 0 genome.wustl.edu 37 10 90122339 90122339 + Missense_Mutation SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 10 90122339 90122339 C T SNP RNLS ENST00000331772 human ensembl 74_37 -1 known missense c.670 p.V224I 0.966 pfam_Amino_oxidase pfam_Amino_oxidase - no_errors RNLS HGNC ENSG00000184719 tier1 - - 47 0 0.00 26 21 44.68 RPS10P7 0 genome.wustl.edu 37 1 201489719 201489719 + RNA DEL A A - TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 1 201489719 201489719 A - DEL RPS10P7 ENST00000441932 human ensembl 74_37 +1 known rna NULL NULL 0.056 - - - no_errors RPS10P7 HGNC ENSG00000223396 tier1 13 0 0.00 7 3 30.00 SARS 0 genome.wustl.edu 37 1 109774243 109774243 + RNA SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 1 109774243 109774243 G A SNP SARS ENST00000471705 human ensembl 74_37 +1 known rna NULL NULL 0.376 - - - no_errors SARS HGNC ENSG00000031698 tier1 - - 58 0 0.00 16 16 50.00 SCUBE1 0 genome.wustl.edu 37 22 43600129 43600129 + Silent SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 22 43600129 43600129 G A SNP SCUBE1 ENST00000360835 human ensembl 74_37 -1 known silent c.2841 p.F947 0.961 NULL pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE1 HGNC ENSG00000159307 tier1 - - 21 0 0.00 23 14 37.84 SEC31B 0 genome.wustl.edu 37 10 102259267 102259267 + RNA SNP G G T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 10 102259267 102259267 G T SNP SEC31B ENST00000494350 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors SEC31B HGNC ENSG00000075826 tier1 - - 40 0 0.00 38 7 15.22 SGK223 0 genome.wustl.edu 37 8 8233763 8233763 + Missense_Mutation SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 8 8233763 8233763 C T SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known missense c.2156 p.R719Q 0.995 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 tier1 - - 63 0 0.00 58 29 32.95 SHE 0 genome.wustl.edu 37 1 154473951 154473951 + Silent SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 1 154473951 154473951 G A SNP SHE ENST00000304760 human ensembl 74_37 -1 known silent c.552 p.P184 0.769 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHE HGNC ENSG00000169291 tier1 - - 60 0 0.00 77 16 17.20 SLC16A13 0 genome.wustl.edu 37 17 6942095 6942095 + Missense_Mutation SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 17 6942095 6942095 C T SNP SLC16A13 ENST00000308027 human ensembl 74_37 +1 known missense c.968 p.P323L 1.000 pfam_MFS,pfam_Atg22-like,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Atg22-like,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A13 HGNC ENSG00000174327 tier1 - - 35 0 0.00 28 5 15.15 SLIT2 0 genome.wustl.edu 37 4 20543179 20543179 + Missense_Mutation SNP C C G TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 4 20543179 20543179 C G SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.2080 p.P694A 1.000 pfam_Cys-rich_flank_reg_C,smart_Cys-rich_flank_reg_C pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 tier1 - - 65 0 0.00 49 14 22.22 SPINK5 0 genome.wustl.edu 37 5 147499615 147499615 + Missense_Mutation SNP T T A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 5 147499615 147499615 T A SNP SPINK5 ENST00000359874 human ensembl 74_37 +1 known missense c.2357 p.L786H 0.406 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK5 HGNC ENSG00000133710 tier1 - - 32 0 0.00 12 6 33.33 SULF1 0 genome.wustl.edu 37 8 70541903 70541903 + Missense_Mutation SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 8 70541903 70541903 C T SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known missense c.2273 p.P758L 1.000 superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 tier1 - - 29 0 0.00 41 14 25.45 SYCP2 0 genome.wustl.edu 37 20 58453093 58453093 + Silent SNP G G T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 20 58453093 58453093 G T SNP SYCP2 ENST00000357552 human ensembl 74_37 -1 known silent c.2949 p.S983 0.090 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 tier1 - - 71 0 0.00 73 4 5.19 SYN3 0 genome.wustl.edu 37 22 32992674 32992674 + Missense_Mutation SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 22 32992674 32992674 C T SNP SYN3 ENST00000332840 human ensembl 74_37 -1 known missense c.760 p.A254T 0.992 pfam_Synapsin_ATP-bd_dom,pfam_ATP-grasp_RimK-type pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_dom,prints_Synapsin - no_errors SYN3 HGNC ENSG00000185666 tier1 rs139005191 - 52 0 0.00 61 5 7.58 TCF3 0 genome.wustl.edu 37 19 1632397 1632397 + Missense_Mutation SNP C C A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 19 1632397 1632397 C A SNP TCF3 ENST00000262965 human ensembl 74_37 -1 known missense c.153 p.E51D 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF3 HGNC ENSG00000071564 tier1 - - 30 0 0.00 15 8 34.78 TDRD1 0 genome.wustl.edu 37 10 115986888 115986888 + Missense_Mutation SNP T T G TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 10 115986888 115986888 T G SNP TDRD1 ENST00000251864 human ensembl 74_37 +1 known missense c.3233 p.F1078C 0.973 NULL pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 tier1 - - 45 0 0.00 37 20 35.09 TDRD9 0 genome.wustl.edu 37 14 104488603 104488603 + Missense_Mutation SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 14 104488603 104488603 C T SNP TDRD9 ENST00000409874 human ensembl 74_37 +1 known missense c.2542 p.H848Y 0.624 NULL pfam_Helicase-assoc_dom,pfam_Tudor,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,smart_Tudor,pfscan_Tudor,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TDRD9 HGNC ENSG00000156414 tier1 - - 54 0 0.00 75 7 8.54 TMEM161A 0 genome.wustl.edu 37 19 19232141 19232141 + Missense_Mutation SNP G G T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 19 19232141 19232141 G T SNP TMEM161A ENST00000162044 human ensembl 74_37 -1 known missense c.890 p.P297Q 0.976 pfam_Transmembrane_161A/B pfam_Transmembrane_161A/B - no_errors TMEM161A HGNC ENSG00000064545 tier1 - - 65 0 0.00 73 7 8.75 TOP1MT 0 genome.wustl.edu 37 8 144399896 144399897 + Frame_Shift_Ins INS - - C TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 8 144399896 144399897 - C INS TOP1MT ENST00000329245 human ensembl 74_37 -1 known frame_shift_ins c.1327_1326 p.R442fs 0.199:0.214 pfam_TopoI_cat_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI - no_errors TOP1MT HGNC ENSG00000184428 tier1 46 0 0.00 48 39 44.83 TP53 0 genome.wustl.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G C TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 17 7577094 7577094 G C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.844 p.R282G 0.997 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 52 0 0.00 0 36 100.00 TRIM17 0 genome.wustl.edu 37 1 228596974 228596974 + Missense_Mutation SNP T T G TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 1 228596974 228596974 T G SNP TRIM17 ENST00000295033 human ensembl 74_37 -1 known missense c.782 p.K261T 0.614 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM17 HGNC ENSG00000162931 tier1 - - 50 0 0.00 61 21 25.30 TUBBP5 0 genome.wustl.edu 37 9 141044707 141044707 + RNA DEL A A - TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 9 141044707 141044707 A - DEL TUBBP5 ENST00000503395 human ensembl 74_37 +1 known rna NULL NULL 0.504 - - - no_errors TUBBP5 HGNC ENSG00000159247 tier1 11 0 0.00 25 5 16.67 UBASH3B 0 genome.wustl.edu 37 11 122667713 122667713 + Silent SNP G G T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 11 122667713 122667713 G T SNP UBASH3B ENST00000284273 human ensembl 74_37 +1 known silent c.1329 p.V443 1.000 pfam_His_Pase_superF_clade-1 pfam_His_Pase_superF_clade-1,pfam_SH3_domain,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_SH3_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,smart_UBA/transl_elong_EF1B_N_euk,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBASH3B HGNC ENSG00000154127 tier1 - - 64 0 0.00 20 4 16.67 UBQLN1 0 genome.wustl.edu 37 9 86294848 86294848 + Missense_Mutation SNP T T C TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 9 86294848 86294848 T C SNP UBQLN1 ENST00000376395 human ensembl 74_37 -1 known missense c.553 p.M185V 1.000 smart_STI1_HS-bd pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,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 UBQLN1 HGNC ENSG00000135018 tier1 - - 64 0 0.00 20 52 72.22 USP32 0 genome.wustl.edu 37 17 58289386 58289386 + Missense_Mutation SNP C C G TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 17 58289386 58289386 C G SNP USP32 ENST00000300896 human ensembl 74_37 -1 known missense c.2178 p.K726N 1.000 NULL pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_EF_hand_dom,smart_Pept_C19_DUSP,pfscan_EF_hand_dom,pfscan_Peptidase_C19/C67,prints_Recoverin - no_errors USP32 HGNC ENSG00000170832 tier1 - - 43 0 0.00 51 6 10.53 USP51 0 genome.wustl.edu 37 X 55514608 55514608 + Frame_Shift_Del DEL A A - TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 X 55514608 55514608 A - DEL USP51 ENST00000500968 human ensembl 74_37 -1 known frame_shift_del c.765 p.F255fs 0.999 pfam_Znf_UBP,pfscan_Znf_UBP pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP51 HGNC ENSG00000247746 tier1 47 0 0.00 26 2 7.14 VPS18 0 genome.wustl.edu 37 15 41192273 41192273 + Silent SNP C C T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 15 41192273 41192273 C T SNP VPS18 ENST00000220509 human ensembl 74_37 +1 known silent c.1257 p.P419 0.102 pfam_Pep3_Vps18,superfamily_ARM-type_fold pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold - no_errors VPS18 HGNC ENSG00000104142 tier1 - - 68 0 0.00 36 11 23.40 WBSCR27 0 genome.wustl.edu 37 7 73256371 73256371 + Missense_Mutation SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 7 73256371 73256371 G A SNP WBSCR27 ENST00000297873 human ensembl 74_37 -1 known missense c.100 p.R34C 0.005 pfam_UbiE/COQ5_MeTrFase pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase - no_errors WBSCR27 HGNC ENSG00000165171 tier1 - - 65 0 0.00 37 28 43.08 WDR60 0 genome.wustl.edu 37 7 158695219 158695219 + Silent SNP T T C TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 7 158695219 158695219 T C SNP WDR60 ENST00000407559 human ensembl 74_37 +1 known silent c.1290 p.I430 0.962 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR60 HGNC ENSG00000126870 tier1 - - 27 0 0.00 30 4 11.76 ZBTB2 0 genome.wustl.edu 37 6 151687546 151687546 + Missense_Mutation SNP C C G TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 6 151687546 151687546 C G SNP ZBTB2 ENST00000325144 human ensembl 74_37 -1 known missense c.655 p.E219Q 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB2 HGNC ENSG00000181472 tier1 - - 23 0 0.00 38 13 25.49 ZMYND8 0 genome.wustl.edu 37 20 45927652 45927652 + Missense_Mutation SNP G G T TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 334db6d4-d008-4e0f-8307-4bb31e042d20 58bf59e3-00d3-405a-bfc9-902bcb778779 20 45927652 45927652 G T SNP ZMYND8 ENST00000536340 human ensembl 74_37 -1 known missense c.295 p.P99T 1.000 superfamily_Znf_FYVE_PHD pfam_DUF3544,pfam_Bromodomain,pfam_PWWP_dom,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND8 HGNC ENSG00000101040 tier1 - - 69 0 0.00 71 4 5.33