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 ACVR2A 92 genome.wustl.edu 37 2 148674936 148674937 + Frame_Shift_Ins INS - - A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 2 148674936 148674937 - A INS ACVR2A ENST00000241416 human ensembl 70_37 +1 known frame_shift_ins c.757_758 p.R255fs 1.000:1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt - no_errors ACVR2A HGNC ADAM21 8747 genome.wustl.edu 37 14 70924696 70924696 + Silent SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 14 70924696 70924696 G A SNP ADAM21 ENST00000267499 human ensembl 70_37 +1 known silent c.480 p.K160 0.001 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 ADAM21 8747 genome.wustl.edu 37 14 70924697 70924697 + Missense_Mutation SNP A A G TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 14 70924697 70924697 A G SNP ADAM21 ENST00000267499 human ensembl 70_37 +1 known missense c.481 p.I161V 0.001 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 ADAMTS10 81794 genome.wustl.edu 37 19 8649845 8649845 + Missense_Mutation SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 19 8649845 8649845 G A SNP ADAMTS10 ENST00000270328 human ensembl 70_37 -1 known missense c.3136 p.R1046W 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ANKK1 255239 genome.wustl.edu 37 11 113270974 113270974 + Silent SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 11 113270974 113270974 C T SNP ANKK1 ENST00000303941 human ensembl 70_37 +1 known silent c.2283 p.A761 0.006 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ANKK1 HGNC ASCC2 84164 genome.wustl.edu 37 22 30189461 30189461 + Missense_Mutation SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 22 30189461 30189461 C T SNP ASCC2 ENST00000307790 human ensembl 70_37 -1 known missense c.1807 p.E603K 0.900 NULL pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE - no_errors ASCC2 HGNC ATRX 546 genome.wustl.edu 37 X 76778779 76778779 + Missense_Mutation SNP G G T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a X 76778779 76778779 G T SNP ATRX ENST00000373344 human ensembl 70_37 -1 known missense c.6800 p.T2267N 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC C10orf82 143379 genome.wustl.edu 37 10 118427793 118427793 + Silent SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 10 118427793 118427793 G A SNP C10orf82 ENST00000588184 human ensembl 70_37 -1 known silent c.31 p.L11 0.011 NULL NULL - no_errors C10orf82 HGNC CDK6 1021 genome.wustl.edu 37 7 92300823 92300823 + Silent SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 7 92300823 92300823 G A SNP CDK6 ENST00000265734 human ensembl 70_37 -1 known silent c.564 p.P188 0.130 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK6 HGNC CELP 1057 genome.wustl.edu 37 9 135962465 135962465 + RNA DEL T T - TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 9 135962465 135962465 T - DEL CELP ENST00000411440 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CELP HGNC CNTN4-AS2 100873976 genome.wustl.edu 37 3 2185855 2185855 + RNA SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 3 2185855 2185855 C T SNP CNTN4-AS2 ENST00000447256 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors CNTN4-AS2 HGNC COL2A1 1280 genome.wustl.edu 37 12 48386683 48386683 + Missense_Mutation SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 12 48386683 48386683 C T SNP COL2A1 ENST00000380518 human ensembl 70_37 -1 known missense c.1001 p.R334Q 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC CPAMD8 27151 genome.wustl.edu 37 19 17132955 17132955 + Silent SNP C C G TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 19 17132955 17132955 C G SNP CPAMD8 ENST00000443236 human ensembl 70_37 -1 known silent c.270 p.A90 0.362 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal - no_errors CPAMD8 HGNC CRAMP1L 57585 genome.wustl.edu 37 16 1664952 1664952 + Silent SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 16 1664952 1664952 C T SNP CRAMP1L ENST00000293925 human ensembl 70_37 +1 known silent c.312 p.S104 0.962 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors CRAMP1L HGNC CTNNA2 1496 genome.wustl.edu 37 2 80540713 80540713 + Silent SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 2 80540713 80540713 G A SNP CTNNA2 ENST00000343114 human ensembl 70_37 +1 putative silent c.27 p.Q9 0.000 NULL pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC CYP2A6 1548 genome.wustl.edu 37 19 41354661 41354661 + Silent SNP T T C TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 19 41354661 41354661 T C SNP CYP2A6 ENST00000301141 human ensembl 70_37 -1 known silent c.351 p.V117 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A6 HGNC CYP4F12 66002 genome.wustl.edu 37 19 15806798 15806798 + Missense_Mutation SNP A A T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 19 15806798 15806798 A T SNP CYP4F12 ENST00000324632 human ensembl 70_37 +1 known missense c.1168 p.R390W 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_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-II - no_errors CYP4F12 HGNC DCAF10 79269 genome.wustl.edu 37 9 37863321 37863321 + RNA SNP T T A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 9 37863321 37863321 T A SNP DCAF10 ENST00000483167 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors DCAF10 HGNC DLGAP1-AS5 284215 genome.wustl.edu 37 18 4264667 4264667 + RNA SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 18 4264667 4264667 G A SNP DLGAP1-AS5 ENST00000565759 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DLGAP1-AS5 HGNC DNAH5 1767 genome.wustl.edu 37 5 13868103 13868104 + Splice_Site INS - - A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 5 13868103 13868104 - A INS DNAH5 ENST00000265104 human ensembl 70_37 -1 known splice_site_ins c.3835-3_3835-2 e25-2 0.997:0.001 - - - no_errors DNAH5 HGNC DNM1P46 196968 genome.wustl.edu 37 15 100340349 100340349 + RNA SNP C C A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 15 100340349 100340349 C A SNP DNM1P46 ENST00000341853 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors DNM1P46 HGNC DPY19L2P1 554236 genome.wustl.edu 37 7 35120233 35120233 + RNA SNP A A T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 7 35120233 35120233 A T SNP DPY19L2P1 ENST00000458672 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors DPY19L2P1 HGNC ENSG00000206845 0 genome.wustl.edu 37 5 164362180 164362180 + RNA SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 5 164362180 164362180 C T SNP ENSG00000206845 ENST00000384118 human ensembl 70_37 -1 novel rna NULL NULL 0.000 - - - no_errors U6 RFAM ENSG00000207320 0 genome.wustl.edu 37 X 3559500 3559500 + RNA SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a X 3559500 3559500 G A SNP ENSG00000207320 ENST00000384590 human ensembl 70_37 -1 novel rna NULL NULL 0.001 - - - no_errors Y_RNA RFAM ENSG00000229607 0 genome.wustl.edu 37 1 31283553 31283553 + RNA SNP T T G TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 1 31283553 31283553 T G SNP ENSG00000229607 ENST00000440358 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP5-1125N11.1 Clone_based_vega_gene ENSG00000230839 0 genome.wustl.edu 37 20 1791852 1791852 + RNA SNP C C A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 20 1791852 1791852 C A SNP ENSG00000230839 ENST00000447206 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP5-968J1.1 Clone_based_vega_gene ENSG00000233723 0 genome.wustl.edu 37 2 59290199 59290199 + RNA SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 2 59290199 59290199 G A SNP ENSG00000233723 ENST00000452840 human ensembl 70_37 +1 known rna NULL NULL 0.147 - - - no_errors AC007092.1 Clone_based_vega_gene ENSG00000235994 0 genome.wustl.edu 37 6 168376967 168376968 + RNA INS - - G TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 6 168376967 168376968 - G INS ENSG00000235994 ENST00000538528 human ensembl 70_37 -1 known rna NULL NULL 0.009:0.005 - - - no_errors RP3-470B24.5 Clone_based_vega_gene ENSG00000235994 0 genome.wustl.edu 37 6 168376968 168376969 + RNA INS - - G TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 6 168376968 168376969 - G INS ENSG00000235994 ENST00000538528 human ensembl 70_37 -1 known rna NULL NULL 0.005:0.007 - - - no_errors RP3-470B24.5 Clone_based_vega_gene ENSG00000236837 0 genome.wustl.edu 37 2 52725890 52725890 + RNA SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 2 52725890 52725890 C T SNP ENSG00000236837 ENST00000443926 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors AC139712.4 Clone_based_vega_gene ENSG00000238261 0 genome.wustl.edu 37 1 143399181 143399181 + RNA SNP T T G TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 1 143399181 143399181 T G SNP ENSG00000238261 ENST00000458155 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors BX004987.5 Clone_based_vega_gene ENSG00000238261 0 genome.wustl.edu 37 1 143401698 143401698 + RNA SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 1 143401698 143401698 C T SNP ENSG00000238261 ENST00000433980 human ensembl 70_37 +1 known rna NULL NULL 0.824 - - - no_errors BX004987.5 Clone_based_vega_gene ENSG00000249341 0 genome.wustl.edu 37 4 54603064 54603064 + RNA SNP A A T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 4 54603064 54603064 A T SNP ENSG00000249341 ENST00000508112 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors RP11-317M11.1 Clone_based_vega_gene ENSG00000252996 0 genome.wustl.edu 37 12 3063425 3063425 + RNA SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 12 3063425 3063425 C T SNP ENSG00000252996 ENST00000517187 human ensembl 70_37 -1 novel rna NULL NULL 0.049 - - - no_errors U6 RFAM ENSG00000253854 0 genome.wustl.edu 37 8 94733096 94733097 + RNA INS - - A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 8 94733096 94733097 - A INS ENSG00000253854 ENST00000520562 human ensembl 70_37 +1 known rna NULL NULL 0.014:0.000 - - - no_errors RP11-10N23.2 Clone_based_vega_gene ENSG00000254278 0 genome.wustl.edu 37 8 120080181 120080181 + RNA SNP A A G TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 8 120080181 120080181 A G SNP ENSG00000254278 ENST00000518362 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-278I4.2 Clone_based_vega_gene ENSG00000255258 0 genome.wustl.edu 37 11 133654041 133654041 + RNA SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 11 133654041 133654041 C T SNP ENSG00000255258 ENST00000526254 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-448P19.1 Clone_based_vega_gene ENSG00000259895 0 genome.wustl.edu 37 16 2515189 2515189 + RNA SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 16 2515189 2515189 C T SNP ENSG00000259895 ENST00000563775 human ensembl 70_37 -1 known rna NULL NULL 0.054 - - - no_errors RP11-715J22.2 Clone_based_vega_gene ENSG00000262223 0 genome.wustl.edu 37 17 79349960 79349960 + RNA SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 17 79349960 79349960 C T SNP ENSG00000262223 ENST00000570301 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors RP11-1055B8.3 Clone_based_vega_gene ENSG00000266051 0 genome.wustl.edu 37 17 56533492 56533492 + RNA SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 17 56533492 56533492 G A SNP ENSG00000266051 ENST00000581197 human ensembl 70_37 -1 novel rna NULL NULL 0.008 - - - no_errors AC023992.1 Clone_based_ensembl_gene FAM115C 285966 genome.wustl.edu 37 7 143417362 143417362 + Missense_Mutation SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 7 143417362 143417362 G A SNP FAM115C ENST00000441159 human ensembl 70_37 +1 known missense c.1210 p.V404I 0.006 NULL NULL - no_errors FAM115C HGNC FAM225B 100128385 genome.wustl.edu 37 9 115867593 115867593 + RNA SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 9 115867593 115867593 C T SNP FAM225B ENST00000423546 human ensembl 70_37 -1 known rna NULL NULL 0.016 - - - no_errors FAM225B HGNC FBXW7 55294 genome.wustl.edu 37 4 153249384 153249384 + Missense_Mutation SNP C C A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 4 153249384 153249384 C A SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known missense c.1394 p.R465L 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC FGF20 26281 genome.wustl.edu 37 8 16859521 16859521 + Silent SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 8 16859521 16859521 G A SNP FGF20 ENST00000180166 human ensembl 70_37 -1 known silent c.21 p.V7 0.997 NULL pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF20 HGNC FLJ45832 400841 genome.wustl.edu 37 20 29516567 29516567 + RNA SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 20 29516567 29516567 G A SNP FLJ45832 ENST00000380888 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors RP4-610C12.4 Clone_based_vega_gene GNPAT 8443 genome.wustl.edu 37 1 231402067 231402067 + Silent SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 1 231402067 231402067 C T SNP GNPAT ENST00000366647 human ensembl 70_37 +1 known silent c.969 p.S323 0.999 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors GNPAT HGNC KIAA0556 23247 genome.wustl.edu 37 16 27642395 27642395 + Missense_Mutation SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 16 27642395 27642395 G A SNP KIAA0556 ENST00000261588 human ensembl 70_37 +1 known missense c.320 p.R107Q 0.298 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 12 25398284 25398284 C T SNP KRAS ENST00000256078 human ensembl 70_37 -1 known missense c.35 p.G12D 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC LEPREL2 10536 genome.wustl.edu 37 12 6948853 6948853 + RNA SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 12 6948853 6948853 G A SNP LEPREL2 ENST00000251761 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors LEPREL2 HGNC LINC00652 29075 genome.wustl.edu 37 20 18772659 18772659 + RNA SNP A A G TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 20 18772659 18772659 A G SNP LINC00652 ENST00000454749 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00652 HGNC LOC100505978 100505978 genome.wustl.edu 37 12 107074753 107074753 + RNA SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 12 107074753 107074753 C T SNP LOC100505978 ENST00000547531 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-482D24.2 Clone_based_vega_gene LOC100506303 100506303 genome.wustl.edu 37 14 19692764 19692764 + RNA SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 14 19692764 19692764 C T SNP LOC100506303 ENST00000431094 human ensembl 70_37 +1 known rna NULL NULL 0.022 - - - no_errors AL589743.1 Clone_based_vega_gene MICAL3 57553 genome.wustl.edu 37 22 18359611 18359611 + RNA SNP T T G TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 22 18359611 18359611 T G SNP MICAL3 ENST00000465886 human ensembl 70_37 -1 putative rna NULL NULL 0.001 - - - no_errors MICAL3 HGNC MT1H 4496 genome.wustl.edu 37 16 56704434 56704434 + Silent SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 16 56704434 56704434 C T SNP MT1H ENST00000332374 human ensembl 70_37 +1 known silent c.45 p.C15 0.053 pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert - no_errors MT1H HGNC MYH1 4619 genome.wustl.edu 37 17 10404045 10404045 + Missense_Mutation SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 17 10404045 10404045 C T SNP MYH1 ENST00000226207 human ensembl 70_37 -1 known missense c.3763 p.A1255T 0.905 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC NEAT1 283131 genome.wustl.edu 37 11 65199970 65199970 + RNA SNP T T C TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 11 65199970 65199970 T C SNP NEAT1 ENST00000501122 human ensembl 70_37 +1 known rna NULL NULL 0.879 - - - no_errors NEAT1 HGNC OTOF 9381 genome.wustl.edu 37 2 26680943 26680943 + Missense_Mutation SNP G G C TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 2 26680943 26680943 G C SNP OTOF ENST00000339598 human ensembl 70_37 -1 known missense c.3658 p.P1220A 1.000 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_C2_dom,pfscan_C2_membr_targeting - no_errors OTOF HGNC PPL 5493 genome.wustl.edu 37 16 4949362 4949362 + Missense_Mutation SNP C C A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 16 4949362 4949362 C A SNP PPL ENST00000345988 human ensembl 70_37 -1 known missense c.630 p.Q210H 1.000 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC PRKD1 5587 genome.wustl.edu 37 14 30066911 30066911 + Silent SNP C C A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 14 30066911 30066911 C A SNP PRKD1 ENST00000331968 human ensembl 70_37 -1 known silent c.2220 p.R740 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC PROCR 10544 genome.wustl.edu 37 20 33762727 33762727 + Missense_Mutation SNP G G T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 20 33762727 33762727 G T SNP PROCR ENST00000216968 human ensembl 70_37 +1 known missense c.293 p.R98L 0.004 superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors PROCR HGNC SH3GLB1 51100 genome.wustl.edu 37 1 87188292 87188292 + Missense_Mutation SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 1 87188292 87188292 C T SNP SH3GLB1 ENST00000482504 human ensembl 70_37 +1 known missense c.413 p.T138M 1.000 pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain - no_errors SH3GLB1 HGNC STOX2 56977 genome.wustl.edu 37 4 184930517 184930517 + Missense_Mutation SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 4 184930517 184930517 G A SNP STOX2 ENST00000308497 human ensembl 70_37 +1 known missense c.526 p.G176R 1.000 NULL pfam_Storkhead-box_winged-helix - no_errors STOX2 HGNC SYCP2 10388 genome.wustl.edu 37 20 58496531 58496531 + RNA SNP A A G TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 20 58496531 58496531 A G SNP SYCP2 ENST00000476314 human ensembl 70_37 -1 putative rna NULL NULL 0.072 - - - no_errors SYCP2 HGNC SYNGR2 9144 genome.wustl.edu 37 17 76167900 76167900 + Missense_Mutation SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 17 76167900 76167900 G A SNP SYNGR2 ENST00000588282 human ensembl 70_37 +1 putative missense c.647 p.R216Q 0.000 NULL pfam_MARVEL-like_dom - no_errors SYNGR2 HGNC TOM1 10043 genome.wustl.edu 37 22 35719764 35719764 + Missense_Mutation SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 22 35719764 35719764 G A SNP TOM1 ENST00000411850 human ensembl 70_37 +1 known missense c.505 p.V169M 0.648 pirsf_TOM1 pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1 HGNC TRHDE 29953 genome.wustl.edu 37 12 73012759 73012759 + Nonsense_Mutation SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 12 73012759 73012759 C T SNP TRHDE ENST00000261180 human ensembl 70_37 +1 known nonsense c.2275 p.R759* 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC TRPC5OS 100329135 genome.wustl.edu 37 X 111145031 111145031 + RNA SNP G G T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a X 111145031 111145031 G T SNP TRPC5OS ENST00000371970 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors TRPC5OS HGNC TRRAP 8295 genome.wustl.edu 37 7 98529255 98529255 + Missense_Mutation SNP G G T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 7 98529255 98529255 G T SNP TRRAP ENST00000359863 human ensembl 70_37 +1 known missense c.3819 p.K1273N 0.998 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC TXNL1 9352 genome.wustl.edu 37 18 54266502 54266502 + RNA SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 18 54266502 54266502 G A SNP TXNL1 ENST00000585497 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TXNL1 HGNC UNC5D 137970 genome.wustl.edu 37 8 35624428 35624428 + Silent SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 8 35624428 35624428 G A SNP UNC5D ENST00000404895 human ensembl 70_37 +1 known silent c.2322 p.P774 0.009 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5D HGNC VRTN 55237 genome.wustl.edu 37 14 74824923 74824923 + Silent SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 14 74824923 74824923 G A SNP VRTN ENST00000256362 human ensembl 70_37 +1 known silent c.1437 p.A479 0.000 NULL pfam_Transposase_8 - no_errors VRTN HGNC WDR52 55779 genome.wustl.edu 37 3 113120479 113120479 + Silent SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 3 113120479 113120479 G A SNP WDR52 ENST00000393845 human ensembl 70_37 -1 known silent c.1278 p.F426 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC WHSC1 7468 genome.wustl.edu 37 4 1980533 1980533 + Missense_Mutation SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 4 1980533 1980533 C T SNP WHSC1 ENST00000382891 human ensembl 70_37 +1 known missense c.3995 p.S1332L 0.011 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_superfamily,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_PWWP,smart_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_superfamily - no_errors WHSC1 HGNC WHSC1L1 54904 genome.wustl.edu 37 8 38174709 38174709 + RNA SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 8 38174709 38174709 C T SNP WHSC1L1 ENST00000525081 human ensembl 70_37 -1 known rna NULL NULL 0.943 - - - no_errors WHSC1L1 HGNC XPO1 7514 genome.wustl.edu 37 2 61711217 61711217 + Missense_Mutation SNP A A C TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 2 61711217 61711217 A C SNP XPO1 ENST00000401558 human ensembl 70_37 -1 known missense c.2532 p.H844Q 1.000 pfam_CRM1_C_dom,superfamily_ARM-type_fold pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO1 HGNC ZCCHC2 54877 genome.wustl.edu 37 18 60190786 60190787 + In_Frame_Ins INS - - CCG TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 18 60190786 60190787 - CCG INS ZCCHC2 ENST00000269499 human ensembl 70_37 +1 known in_frame_ins c.129_130 p.47in_frame_insP 0.978:0.996 NULL pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC2 HGNC ZNF264 9422 genome.wustl.edu 37 19 57724021 57724021 + Missense_Mutation SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 19 57724021 57724021 C T SNP ZNF264 ENST00000263095 human ensembl 70_37 +1 known missense c.1556 p.S519L 0.000 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 ZNF264 HGNC ZNF496 84838 genome.wustl.edu 37 1 247471184 247471184 + RNA SNP C C T TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fda5878e-5f0c-4447-9169-48865e7c3779 6ef4b38a-ded9-4d85-bdf4-bdfa495e235a 1 247471184 247471184 C T SNP ZNF496 ENST00000465126 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors ZNF496 HGNC