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 AACS 65985 genome.wustl.edu 37 12 125561151 125561151 + Missense_Mutation SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 125561151 125561151 A G SNP AACS ENST00000316519 human ensembl 70_37 +1 known missense c.352 p.I118V 0.784 tigrfam_Acac_CoA_synth pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Acac_CoA_synth - no_errors AACS HGNC AACS 65985 genome.wustl.edu 37 12 125603260 125603260 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 125603260 125603260 C G SNP AACS ENST00000316519 human ensembl 70_37 +1 known missense c.1070 p.S357C 1.000 pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Acac_CoA_synth - no_errors AACS HGNC ABCA13 154664 genome.wustl.edu 37 7 48311467 48311467 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 48311467 48311467 C T SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known missense c.2204 p.S735L 0.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ACAT2 39 genome.wustl.edu 37 6 160196400 160196400 + RNA SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 160196400 160196400 C G SNP ACAT2 ENST00000472052 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ACAT2 HGNC ADAMTS20 80070 genome.wustl.edu 37 12 43896176 43896176 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 43896176 43896176 G C SNP ADAMTS20 ENST00000389420 human ensembl 70_37 -1 known missense c.646 p.H216D 0.376 NULL pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ADAR 103 genome.wustl.edu 37 1 154600399 154600399 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 154600399 154600399 C T SNP ADAR ENST00000292205 human ensembl 70_37 -1 known missense c.76 p.G26R 0.989 NULL pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_Ds-RNA-bd,smart_dsRNA_A_deaminase,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC AKAP9 10142 genome.wustl.edu 37 7 91652178 91652179 + In_Frame_Ins INS - - AAC TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 91652178 91652179 - AAC INS AKAP9 ENST00000359028 human ensembl 70_37 +1 known in_frame_ins c.4039_4040 p.1348in_frame_insQ 0.123:0.267 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like - no_errors AKAP9 HGNC ALMS1 7840 genome.wustl.edu 37 2 73613101 73613101 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 73613101 73613101 G A SNP ALMS1 ENST00000264448 human ensembl 70_37 +1 known silent c.105 p.A35 0.000 NULL NULL - no_errors ALMS1 HGNC ALOX12P2 245 genome.wustl.edu 37 17 6799927 6799927 + RNA SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 6799927 6799927 C T SNP ALOX12P2 ENST00000570890 human ensembl 70_37 +1 known rna NULL NULL 0.011 - - - no_errors ALOX12P2 HGNC ALPK2 115701 genome.wustl.edu 37 18 56203891 56203891 + Silent SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 18 56203891 56203891 G T SNP ALPK2 ENST00000361673 human ensembl 70_37 -1 known silent c.3528 p.P1176 0.000 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK2 HGNC ALPPL2 251 genome.wustl.edu 37 2 233272600 233272600 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 233272600 233272600 C T SNP ALPPL2 ENST00000295453 human ensembl 70_37 +1 known missense c.521 p.S174L 0.994 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPPL2 HGNC AMY2A 279 genome.wustl.edu 37 1 104163266 104163266 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 104163266 104163266 G A SNP AMY2A ENST00000414303 human ensembl 70_37 +1 known missense c.838 p.V280I 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2A HGNC ANKMY1 51281 genome.wustl.edu 37 2 241492376 241492376 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 241492376 241492376 G C SNP ANKMY1 ENST00000272972 human ensembl 70_37 -1 known missense c.168 p.H56Q 0.001 NULL pfam_Ankyrin_rpt,pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND - no_errors ANKMY1 HGNC ANKRD20A12P 100874392 genome.wustl.edu 37 1 142716663 142716663 + RNA SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 142716663 142716663 T C SNP ANKRD20A12P ENST00000595144 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors ANKRD20A12P HGNC ANKRD20A2 441430 genome.wustl.edu 37 9 42368549 42368549 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 42368549 42368549 C T SNP ANKRD20A2 ENST00000377601 human ensembl 70_37 +1 known silent c.135 p.D45 0.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A2 HGNC ANKRD31 256006 genome.wustl.edu 37 5 74491716 74491718 + In_Frame_Del DEL TCA TCA - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 TCA TCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 74491716 74491718 TCA - DEL ANKRD31 ENST00000274361 human ensembl 70_37 -1 known in_frame_del c.757_755 p.M252in_frame_del 0.000:0.000:0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD31 HGNC ANKRD36 375248 genome.wustl.edu 37 2 97877440 97877440 + Missense_Mutation SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 97877440 97877440 T C SNP ANKRD36 ENST00000420699 human ensembl 70_37 +1 known missense c.3431 p.M1144T 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC AP5B1 91056 genome.wustl.edu 37 11 65546763 65546763 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 65546763 65546763 G A SNP AP5B1 ENST00000532090 human ensembl 70_37 -1 novel missense c.1201 p.L401F 0.939 NULL NULL - no_errors AP5B1 HGNC APOB 338 genome.wustl.edu 37 2 21252878 21252878 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 21252878 21252878 C T SNP APOB ENST00000233242 human ensembl 70_37 -1 known silent c.1362 p.K454 0.000 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC APOBEC3G 60489 genome.wustl.edu 37 22 39477102 39477102 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 39477102 39477102 G A SNP APOBEC3G ENST00000407997 human ensembl 70_37 +1 known silent c.336 p.P112 0.000 pfam_APOBEC_N,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3G HGNC AQR 9716 genome.wustl.edu 37 15 35226813 35226813 + Missense_Mutation SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 35226813 35226813 G T SNP AQR ENST00000156471 human ensembl 70_37 -1 known missense c.742 p.H248N 1.000 NULL NULL - no_errors AQR HGNC ARHGAP31 57514 genome.wustl.edu 37 3 119133738 119133738 + Nonsense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 119133738 119133738 C T SNP ARHGAP31 ENST00000264245 human ensembl 70_37 +1 known nonsense c.2962 p.Q988* 0.481 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ASAP1 50807 genome.wustl.edu 37 8 131128932 131128932 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 131128932 131128932 C T SNP ASAP1 ENST00000357668 human ensembl 70_37 -1 known missense c.2056 p.E686K 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ASCL4 121549 genome.wustl.edu 37 12 108169152 108169152 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 108169152 108169152 G A SNP ASCL4 ENST00000342331 human ensembl 70_37 +1 known missense c.160 p.G54S 0.001 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors ASCL4 HGNC ASPA 443 genome.wustl.edu 37 17 3397702 3397702 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 3397702 3397702 C T SNP ASPA ENST00000263080 human ensembl 70_37 +1 known silent c.693 p.Y231 1.000 pfam_Aste_AspA,pirsf_Aspartoacylase pfam_Aste_AspA,pirsf_Aspartoacylase - no_errors ASPA HGNC ASXL3 80816 genome.wustl.edu 37 18 31319867 31319867 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 18 31319867 31319867 G A SNP ASXL3 ENST00000269197 human ensembl 70_37 +1 known silent c.2499 p.L833 0.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ATG2B 55102 genome.wustl.edu 37 14 96788973 96788973 + Missense_Mutation SNP C C A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 14 96788973 96788973 C A SNP ATG2B ENST00000359933 human ensembl 70_37 -1 known missense c.2640 p.E880D 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ATG2B 55102 genome.wustl.edu 37 14 96788975 96788975 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 14 96788975 96788975 C T SNP ATG2B ENST00000359933 human ensembl 70_37 -1 known missense c.2638 p.E880K 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ATG7 10533 genome.wustl.edu 37 3 11596302 11596302 + Silent SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 11596302 11596302 T C SNP ATG7 ENST00000354449 human ensembl 70_37 +1 known silent c.2097 p.D699 1.000 tigrfam_E1-like_Apg7 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_E1-like_Apg7 - no_errors ATG7 HGNC ATP13A2 23400 genome.wustl.edu 37 1 17312811 17312811 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 17312811 17312811 G A SNP ATP13A2 ENST00000326735 human ensembl 70_37 -1 known missense c.3448 p.R1150W 0.924 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A2 HGNC ATXN1L 342371 genome.wustl.edu 37 16 71885490 71885490 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 71885490 71885490 G A SNP ATXN1L ENST00000427980 human ensembl 70_37 +1 known missense c.1847 p.R616K 1.000 NULL pfam_Ataxin-1_HBP1,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1L HGNC ATXN3 4287 genome.wustl.edu 37 14 92555077 92555077 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 14 92555077 92555077 C T SNP ATXN3 ENST00000545170 human ensembl 70_37 -1 known missense c.472 p.E158K 1.000 pfam_Josephin,pfscan_Josephin,prints_Josephin pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin - no_errors ATXN3 HGNC B4GALNT4 338707 genome.wustl.edu 37 11 373249 373249 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 373249 373249 C T SNP B4GALNT4 ENST00000329962 human ensembl 70_37 +1 known silent c.594 p.D198 0.410 pfam_PA14,smart_PA14 pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC B4GALNT4 338707 genome.wustl.edu 37 11 376300 376300 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 376300 376300 G A SNP B4GALNT4 ENST00000329962 human ensembl 70_37 +1 known missense c.1246 p.D416N 0.989 NULL pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC B4GALNT4 338707 genome.wustl.edu 37 11 376309 376309 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 376309 376309 G A SNP B4GALNT4 ENST00000329962 human ensembl 70_37 +1 known missense c.1255 p.D419N 0.427 NULL pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC B4GALT1 2683 genome.wustl.edu 37 9 33135202 33135202 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 33135202 33135202 G A SNP B4GALT1 ENST00000379731 human ensembl 70_37 -1 known silent c.633 p.I211 1.000 pfam_Galactosyl_T_2_met pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met - no_errors B4GALT1 HGNC BFSP1 631 genome.wustl.edu 37 20 17474751 17474751 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 20 17474751 17474751 C G SNP BFSP1 ENST00000377873 human ensembl 70_37 -1 known missense c.1966 p.D656H 0.995 NULL pfam_F,superfamily_Prefoldin - no_errors BFSP1 HGNC BIN2 51411 genome.wustl.edu 37 12 51690891 51690891 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 51690891 51690891 G C SNP BIN2 ENST00000267012 human ensembl 70_37 -1 known missense c.660 p.F220L 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin - no_errors BIN2 HGNC BNC2 54796 genome.wustl.edu 37 9 16727949 16727952 + Frame_Shift_Del DEL TCTC TCTC - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 TCTC TCTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 16727949 16727952 TCTC - DEL BNC2 ENST00000380672 human ensembl 70_37 -1 known frame_shift_del c.176_173 p.R58fs 1.000:1.000:1.000:1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC BRAT1 221927 genome.wustl.edu 37 7 2583486 2583486 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 2583486 2583486 C T SNP BRAT1 ENST00000340611 human ensembl 70_37 -1 known missense c.541 p.E181K 0.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors BRAT1 HGNC BSN 8927 genome.wustl.edu 37 3 49698953 49698953 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 49698953 49698953 G A SNP BSN ENST00000296452 human ensembl 70_37 +1 known silent c.9675 p.Q3225 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC C10orf118 55088 genome.wustl.edu 37 10 115922445 115922445 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 10 115922445 115922445 C G SNP C10orf118 ENST00000369287 human ensembl 70_37 -1 known missense c.583 p.E195Q 1.000 NULL superfamily_Prefoldin - no_errors C10orf118 HGNC C11orf35 256329 genome.wustl.edu 37 11 558613 558613 + Splice_Site SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 558613 558613 C T SNP C11orf35 ENST00000329451 human ensembl 70_37 -1 known splice_site c.311+1 e3+1 0.308 - - - no_errors C11orf35 HGNC C11orf54 28970 genome.wustl.edu 37 11 93487201 93487201 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 93487201 93487201 G C SNP C11orf54 ENST00000331239 human ensembl 70_37 +1 known missense c.328 p.E110Q 1.000 pfam_DUF1907 pfam_DUF1907 - no_errors C11orf54 HGNC C12orf68 387856 genome.wustl.edu 37 12 48578442 48578442 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 48578442 48578442 C T SNP C12orf68 ENST00000316554 human ensembl 70_37 +1 known silent c.537 p.D179 0.794 NULL NULL - no_errors C12orf68 HGNC C14orf132 56967 genome.wustl.edu 37 14 96553071 96553071 + RNA SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 14 96553071 96553071 G A SNP C14orf132 ENST00000553764 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors C14orf132 HGNC C14orf93 60686 genome.wustl.edu 37 14 23467813 23467813 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 14 23467813 23467813 G A SNP C14orf93 ENST00000299088 human ensembl 70_37 -1 known silent c.420 p.A140 0.002 NULL NULL - no_errors C14orf93 HGNC C16orf62 57020 genome.wustl.edu 37 16 19644446 19644446 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 19644446 19644446 C T SNP C16orf62 ENST00000438132 human ensembl 70_37 +1 known silent c.1854 p.V618 1.000 NULL NULL - no_errors C16orf62 HGNC C1orf173 127254 genome.wustl.edu 37 1 75108728 75108728 + Nonsense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 75108728 75108728 G A SNP C1orf173 ENST00000326665 human ensembl 70_37 -1 known nonsense c.298 p.R100* 0.946 NULL NULL - no_errors C1orf173 HGNC C6orf120 387263 genome.wustl.edu 37 6 170102991 170102991 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 170102991 170102991 G A SNP C6orf120 ENST00000439249 human ensembl 70_37 +1 known missense c.493 p.E165K 0.420 NULL NULL - no_errors C6orf120 HGNC C8orf46 254778 genome.wustl.edu 37 8 67428153 67428153 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 67428153 67428153 G A SNP C8orf46 ENST00000305454 human ensembl 70_37 +1 known missense c.466 p.E156K 0.988 NULL NULL - no_errors C8orf46 HGNC C9orf152 401546 genome.wustl.edu 37 9 112969745 112969745 + Frame_Shift_Del DEL T T - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 112969745 112969745 T - DEL C9orf152 ENST00000400613 human ensembl 70_37 -1 known frame_shift_del c.115 p.I39fs 0.868 NULL NULL - no_errors C9orf152 HGNC CCDC180 100499483 genome.wustl.edu 37 9 100070052 100070052 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 100070052 100070052 G A SNP C9orf174 ENST00000375202 human ensembl 70_37 +1 known silent c.15 p.E5 0.000 NULL NULL - no_errors C9orf174 HGNC CAT 847 genome.wustl.edu 37 11 34492396 34492396 + RNA SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 34492396 34492396 G T SNP CAT ENST00000534710 human ensembl 70_37 +1 putative rna NULL NULL 0.002 - - - no_errors CAT HGNC CCDC170 80129 genome.wustl.edu 37 6 151936652 151936652 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 151936652 151936652 G A SNP CCDC170 ENST00000367290 human ensembl 70_37 +1 known silent c.1806 p.E602 1.000 superfamily_Prefoldin superfamily_Prefoldin,superfamily_Smac_DIABLO-like - no_errors CCDC170 HGNC CCDC178 374864 genome.wustl.edu 37 18 30926288 30926288 + Missense_Mutation SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 18 30926288 30926288 G T SNP CCDC178 ENST00000406524 human ensembl 70_37 -1 known missense c.545 p.A182E 0.996 NULL NULL - no_errors CCDC178 HGNC CCSAP 126731 genome.wustl.edu 37 1 229460177 229460177 + RNA DEL A A - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 229460177 229460177 A - DEL CCSAP ENST00000483092 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors CCSAP HGNC CD27 939 genome.wustl.edu 37 12 6554686 6554686 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 6554686 6554686 G A SNP CD27 ENST00000266557 human ensembl 70_37 +1 known missense c.233 p.R78Q 1.000 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_7,prints_Fas_rcpt - no_errors CD27 HGNC CD44 960 genome.wustl.edu 37 11 35160833 35160833 + RNA SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 35160833 35160833 C G SNP CD44 ENST00000528086 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CD44 HGNC CDC25C 995 genome.wustl.edu 37 5 137666710 137666710 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 137666710 137666710 G C SNP CDC25C ENST00000323760 human ensembl 70_37 -1 known missense c.160 p.L54V 0.028 NULL pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25C HGNC CDH15 1013 genome.wustl.edu 37 16 89245823 89245823 + Splice_Site SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 89245823 89245823 G C SNP CDH15 ENST00000289746 human ensembl 70_37 +1 known splice_site c.43-1 e2-1 0.744 - - - no_errors CDH15 HGNC CDH7 1005 genome.wustl.edu 37 18 63477135 63477135 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 18 63477135 63477135 G A SNP CDH7 ENST00000323011 human ensembl 70_37 +1 known missense c.406 p.E136K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC CDHR3 222256 genome.wustl.edu 37 7 105672949 105672949 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 105672949 105672949 C T SNP CDHR3 ENST00000317716 human ensembl 70_37 +1 known missense c.2464 p.R822C 0.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR3 HGNC CEACAM18 729767 genome.wustl.edu 37 19 51981896 51981896 + Silent SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 51981896 51981896 C G SNP CEACAM18 ENST00000451626 human ensembl 70_37 +1 known silent c.183 p.L61 0.022 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CEACAM18 HGNC CEACAM5 1048 genome.wustl.edu 37 19 42225080 42225080 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 42225080 42225080 G C SNP CEACAM5 ENST00000221992 human ensembl 70_37 +1 known missense c.2010 p.K670N 0.005 smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CEACAM5 HGNC CEACAM8 1088 genome.wustl.edu 37 19 43093155 43093155 + Missense_Mutation SNP T T A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 43093155 43093155 T A SNP CEACAM8 ENST00000244336 human ensembl 70_37 -1 known missense c.739 p.T247S 0.001 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CEACAM8 HGNC CENPM 79019 genome.wustl.edu 37 22 42343076 42343076 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 42343076 42343076 G A SNP CENPM ENST00000215980 human ensembl 70_37 -1 known missense c.5 p.S2L 1.000 pfam_Centromere_Cenp-M pfam_Centromere_Cenp-M - no_errors CENPM HGNC CEP350 9857 genome.wustl.edu 37 1 180013197 180013197 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 180013197 180013197 C G SNP CEP350 ENST00000367607 human ensembl 70_37 +1 known missense c.4511 p.S1504C 0.976 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC CEP57 9702 genome.wustl.edu 37 11 95564259 95564259 + Missense_Mutation SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 95564259 95564259 A G SNP CEP57 ENST00000325542 human ensembl 70_37 +1 known missense c.1342 p.R448G 0.986 NULL pfam_Cep57_MT-bd_dom - no_errors CEP57 HGNC CEP85 64793 genome.wustl.edu 37 1 26603883 26603884 + RNA INS - - AA TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 26603883 26603884 - AA INS CEP85 ENST00000469609 human ensembl 70_37 +1 known rna NULL NULL 0.002:0.004 - - - no_errors CEP85 HGNC CETP 1071 genome.wustl.edu 37 16 57015564 57015564 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 57015564 57015564 C T SNP CETP ENST00000200676 human ensembl 70_37 +1 known missense c.1220 p.T407I 0.000 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer - no_errors CETP HGNC CHAT 1103 genome.wustl.edu 37 10 50833673 50833673 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 10 50833673 50833673 C T SNP CHAT ENST00000337653 human ensembl 70_37 +1 known missense c.907 p.H303Y 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CHAT HGNC CHRNA2 1135 genome.wustl.edu 37 8 27327357 27327357 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 27327357 27327357 C T SNP CHRNA2 ENST00000407991 human ensembl 70_37 -1 known missense c.215 p.R72H 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA2 HGNC CHRNA7 1139 genome.wustl.edu 37 15 32460419 32460419 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 32460419 32460419 C T SNP CHRNA7 ENST00000454250 human ensembl 70_37 +1 known silent c.1356 p.G452 0.001 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA7 HGNC CIITA 4261 genome.wustl.edu 37 16 11001770 11001770 + Silent SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 11001770 11001770 G T SNP CIITA ENST00000324288 human ensembl 70_37 +1 known silent c.2421 p.L807 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC CKAP5 9793 genome.wustl.edu 37 11 46771944 46771944 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 46771944 46771944 C T SNP CKAP5 ENST00000415402 human ensembl 70_37 -1 known missense c.5605 p.D1869N 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC CLEC4F 165530 genome.wustl.edu 37 2 71046981 71046981 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 71046981 71046981 G A SNP CLEC4F ENST00000272367 human ensembl 70_37 -1 known missense c.104 p.P35L 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4F HGNC CLIP2 7461 genome.wustl.edu 37 7 73815874 73815874 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 73815874 73815874 C G SNP CLIP2 ENST00000223398 human ensembl 70_37 +1 known missense c.3106 p.Q1036E 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC COG1 9382 genome.wustl.edu 37 17 71193055 71193055 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 71193055 71193055 G A SNP COG1 ENST00000299886 human ensembl 70_37 +1 known missense c.577 p.E193K 1.000 NULL pfam_Vps51 - no_errors COG1 HGNC COL22A1 169044 genome.wustl.edu 37 8 139668160 139668160 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 139668160 139668160 C T SNP COL22A1 ENST00000303045 human ensembl 70_37 -1 known missense c.3313 p.D1105N 1.000 NULL pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC COL4A1 1282 genome.wustl.edu 37 13 110850842 110850842 + Silent SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 13 110850842 110850842 A G SNP COL4A1 ENST00000375820 human ensembl 70_37 -1 known silent c.1257 p.P419 0.046 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC COL6A2 1292 genome.wustl.edu 37 21 47537804 47537804 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 21 47537804 47537804 C G SNP COL6A2 ENST00000300527 human ensembl 70_37 +1 known missense c.1070 p.P357R 0.966 pfam_Collagen pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC COPE 11316 genome.wustl.edu 37 19 19021788 19021788 + Missense_Mutation SNP C C A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 19021788 19021788 C A SNP COPE ENST00000262812 human ensembl 70_37 -1 known missense c.282 p.E94D 0.940 pfam_Coatomer_esu,pirsf_Coatomer_esu pfam_Coatomer_esu,pirsf_Coatomer_esu - no_errors COPE HGNC CORO6 84940 genome.wustl.edu 37 17 27943318 27943318 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 27943318 27943318 G A SNP CORO6 ENST00000345068 human ensembl 70_37 -1 known silent c.1041 p.I347 1.000 pfam_DUF1900 pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO6 HGNC CPEB2 132864 genome.wustl.edu 37 4 15004504 15004504 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 15004504 15004504 C T SNP CPEB2 ENST00000538197 human ensembl 70_37 +1 known silent c.207 p.L69 0.900 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB2 HGNC CRAMP1L 57585 genome.wustl.edu 37 16 1720687 1720687 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 1720687 1720687 G A SNP CRAMP1L ENST00000293925 human ensembl 70_37 +1 known silent c.3522 p.K1174 1.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors CRAMP1L HGNC CRB1 23418 genome.wustl.edu 37 1 197404045 197404045 + Missense_Mutation SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 197404045 197404045 T C SNP CRB1 ENST00000367400 human ensembl 70_37 +1 known missense c.3052 p.F1018L 0.004 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC CRMP1 1400 genome.wustl.edu 37 4 5827529 5827530 + RNA INS - - AT TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 5827529 5827530 - AT INS CRMP1 ENST00000513911 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors CRMP1 HGNC CRMP1 1400 genome.wustl.edu 37 4 5830336 5830336 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 5830336 5830336 G A SNP CRMP1 ENST00000324989 human ensembl 70_37 -1 known silent c.1683 p.I561 1.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC CRYBG3 131544 genome.wustl.edu 37 3 97660064 97660064 + Missense_Mutation SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 97660064 97660064 A G SNP CRYBG3 ENST00000182096 human ensembl 70_37 +1 known missense c.2734 p.T912A 0.005 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC CRYZ 1429 genome.wustl.edu 37 1 75172054 75172054 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 75172054 75172054 C T SNP CRYZ ENST00000340866 human ensembl 70_37 -1 known missense c.916 p.E306K 1.000 smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors CRYZ HGNC CSMD3 114788 genome.wustl.edu 37 8 113564878 113564878 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 113564878 113564878 C T SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known missense c.4306 p.D1436N 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC CSMD3 114788 genome.wustl.edu 37 8 113668533 113668533 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 113668533 113668533 G A SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known missense c.2854 p.H952Y 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC CSNK1G2-AS1 255193 genome.wustl.edu 37 19 1954126 1954127 + RNA INS - - A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 1954126 1954127 - A INS CSNK1G2-AS1 ENST00000314315 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors CSNK1G2-AS1 HGNC CSNK1G2-AS1 255193 genome.wustl.edu 37 19 1954128 1954128 + RNA SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 1954128 1954128 T C SNP CSNK1G2-AS1 ENST00000314315 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors CSNK1G2-AS1 HGNC CSRNP2 81566 genome.wustl.edu 37 12 51458056 51458056 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 51458056 51458056 C T SNP CSRNP2 ENST00000228515 human ensembl 70_37 -1 known missense c.1105 p.E369K 0.641 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP2 HGNC CTAG2 30848 genome.wustl.edu 37 X 153880858 153880858 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 X 153880858 153880858 C T SNP CTAG2 ENST00000369585 human ensembl 70_37 -1 known missense c.317 p.R106H 0.000 pfam_EKC/KEOPS_Pcc1 pfam_EKC/KEOPS_Pcc1 - no_errors CTAG2 HGNC CXADRP3 440224 genome.wustl.edu 37 18 14478894 14478894 + RNA SNP T T A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 18 14478894 14478894 T A SNP CXADRP3 ENST00000581457 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CXADRP3 HGNC PBDC1 51260 genome.wustl.edu 37 X 75395419 75395419 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 X 75395419 75395419 G A SNP CXorf26 ENST00000373358 human ensembl 70_37 +1 known missense c.268 p.E90K 1.000 pfam_Put_polysacc_synth pfam_Put_polysacc_synth - no_errors CXorf26 HGNC CYP21A2 1589 genome.wustl.edu 37 6 32008783 32008783 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 32008783 32008783 C T SNP CYP21A2 ENST00000418967 human ensembl 70_37 +1 known missense c.1360 p.P454S 0.998 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP21A2 HGNC CYP39A1 51302 genome.wustl.edu 37 6 46604179 46604179 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 46604179 46604179 C T SNP CYP39A1 ENST00000275016 human ensembl 70_37 -1 known missense c.679 p.E227K 0.996 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP39A1 HGNC DAB2IP 153090 genome.wustl.edu 37 9 124522649 124522649 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 124522649 124522649 C T SNP DAB2IP ENST00000408936 human ensembl 70_37 +1 known silent c.1101 p.L367 1.000 superfamily_Rho_GTPase_activation_prot,smart_RasGAP pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC DAPK2 23604 genome.wustl.edu 37 15 64215459 64215459 + Silent SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 64215459 64215459 G C SNP DAPK2 ENST00000558069 human ensembl 70_37 -1 putative silent c.942 p.L314 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DAPK2 HGNC DCAF8L1 139425 genome.wustl.edu 37 X 27998107 27998107 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 X 27998107 27998107 G A SNP DCAF8L1 ENST00000441525 human ensembl 70_37 -1 known missense c.1345 p.R449W 0.933 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_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 DCAF8L1 HGNC DCHS2 54798 genome.wustl.edu 37 4 155287390 155287390 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 155287390 155287390 C T SNP DCHS2 ENST00000357232 human ensembl 70_37 -1 known silent c.666 p.S222 0.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC DENND2C 163259 genome.wustl.edu 37 1 115168413 115168413 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 115168413 115168413 C T SNP DENND2C ENST00000393274 human ensembl 70_37 -1 known missense c.193 p.E65K 0.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC DENND6B 414918 genome.wustl.edu 37 22 50751893 50751893 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 50751893 50751893 C G SNP DENND6B ENST00000413817 human ensembl 70_37 -1 known missense c.1329 p.K443N 0.944 pfam_Afi1_N pfam_Afi1_N,pfam_DENN_dom,pfam_Secretory_pathway_prot_Avl9 - no_errors DENND6B HGNC DENND6B 414918 genome.wustl.edu 37 22 50752655 50752655 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 50752655 50752655 C T SNP DENND6B ENST00000413817 human ensembl 70_37 -1 known silent c.1119 p.K373 1.000 pfam_Afi1_N pfam_Afi1_N,pfam_DENN_dom,pfam_Secretory_pathway_prot_Avl9 - no_errors DENND6B HGNC DGCR5 26220 genome.wustl.edu 37 22 18979648 18979648 + RNA SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 18979648 18979648 G A SNP DGCR5 ENST00000438934 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DGCR5 HGNC DIS3 22894 genome.wustl.edu 37 13 73337593 73337593 + Nonsense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 13 73337593 73337593 G C SNP DIS3 ENST00000377767 human ensembl 70_37 -1 known nonsense c.2123 p.S708* 1.000 pfam_RNase_II/R,smart_RNase_II/R pfam_RNase_II/R,smart_PINc_nuc-bd,smart_RNase_II/R - no_errors DIS3 HGNC DISC1 27185 genome.wustl.edu 37 1 232094594 232094594 + Missense_Mutation SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 232094594 232094594 A G SNP DISC1 ENST00000439617 human ensembl 70_37 +1 known missense c.2002 p.T668A 0.016 NULL superfamily_Prefoldin - no_errors DISC1 HGNC DLGAP1 9229 genome.wustl.edu 37 18 3508607 3508607 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 18 3508607 3508607 C T SNP DLGAP1 ENST00000315677 human ensembl 70_37 -1 known silent c.2532 p.Q844 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP1 HGNC DLGAP2 9228 genome.wustl.edu 37 8 1616746 1616746 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 1616746 1616746 G C SNP DLGAP2 ENST00000421627 human ensembl 70_37 +1 known missense c.1822 p.E608Q 0.477 NULL pfam_GKAP - no_errors DLGAP2 HGNC DMD 1756 genome.wustl.edu 37 X 32486617 32486617 + Nonsense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 X 32486617 32486617 G A SNP DMD ENST00000357033 human ensembl 70_37 -1 known nonsense c.3160 p.Q1054* 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC DNAH14 127602 genome.wustl.edu 37 1 225231637 225231637 + Frame_Shift_Del DEL T T - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 225231637 225231637 T - DEL DNAH14 ENST00000430092 human ensembl 70_37 +1 known frame_shift_del c.1864 p.S623fs 0.637 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase - no_errors DNAH14 HGNC DNAH7 56171 genome.wustl.edu 37 2 196834744 196834744 + Silent SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 196834744 196834744 A G SNP DNAH7 ENST00000312428 human ensembl 70_37 -1 known silent c.2133 p.D711 0.198 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC DNM2 1785 genome.wustl.edu 37 19 10886548 10886548 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 10886548 10886548 C T SNP DNM2 ENST00000314646 human ensembl 70_37 +1 known silent c.555 p.D185 0.015 pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin - no_errors DNM2 HGNC DPY19L1 23333 genome.wustl.edu 37 7 34971262 34971262 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 34971262 34971262 C T SNP DPY19L1 ENST00000310974 human ensembl 70_37 -1 known missense c.1951 p.V651M 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L1 HGNC DRD3 1814 genome.wustl.edu 37 3 113850099 113850099 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 113850099 113850099 G A SNP DRD3 ENST00000383673 human ensembl 70_37 -1 known missense c.872 p.A291V 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_D3_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_D3_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD3 HGNC DSG4 147409 genome.wustl.edu 37 18 28983423 28983423 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 18 28983423 28983423 C T SNP DSG4 ENST00000359747 human ensembl 70_37 +1 known missense c.1462 p.P488S 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmo_cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG4 HGNC DSPP 1834 genome.wustl.edu 37 4 88537522 88537522 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 88537522 88537522 C T SNP DSPP ENST00000282478 human ensembl 70_37 +1 known silent c.3708 p.D1236 0.991 NULL NULL - no_errors DSPP HGNC DTX2 113878 genome.wustl.edu 37 7 76112111 76112111 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 76112111 76112111 C T SNP DTX2 ENST00000324432 human ensembl 70_37 +1 known silent c.555 p.I185 0.331 NULL pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX2 HGNC DUSP1 1843 genome.wustl.edu 37 5 172196702 172196702 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 172196702 172196702 C G SNP DUSP1 ENST00000239223 human ensembl 70_37 -1 known missense c.609 p.L203F 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP - no_errors DUSP1 HGNC DUSP13 51207 genome.wustl.edu 37 10 76867864 76867864 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 10 76867864 76867864 C T SNP DUSP13 ENST00000372702 human ensembl 70_37 -1 known missense c.253 p.G85S 0.998 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP13 HGNC DYNC1H1 1778 genome.wustl.edu 37 14 102477145 102477145 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 14 102477145 102477145 C T SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known silent c.6474 p.F2158 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC EDAR 10913 genome.wustl.edu 37 2 109527312 109527312 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 109527312 109527312 G A SNP EDAR ENST00000376651 human ensembl 70_37 -1 known missense c.746 p.S249F 0.000 NULL pfam_Death,superfamily_DEATH-like - no_errors EDAR HGNC EDEM3 80267 genome.wustl.edu 37 1 184703699 184703699 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 184703699 184703699 C T SNP EDEM3 ENST00000318130 human ensembl 70_37 -1 known missense c.424 p.V142I 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM3 HGNC EDNRA 1909 genome.wustl.edu 37 4 148464977 148464978 + RNA INS - - A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 148464977 148464978 - A INS EDNRA ENST00000503721 human ensembl 70_37 +1 known rna NULL NULL 0.020:0.001 - - - no_errors EDNRA HGNC EEF1DP3 196549 genome.wustl.edu 37 13 32527156 32527156 + RNA SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 13 32527156 32527156 G A SNP EEF1DP3 ENST00000428783 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors EEF1DP3 HGNC EGF 1950 genome.wustl.edu 37 4 110897270 110897270 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 110897270 110897270 C T SNP EGF ENST00000265171 human ensembl 70_37 +1 known silent c.1932 p.P644 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pirsf_Pro-epidermal_GF,pfscan_LDLR_classB_rpt pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_Pro-epidermal_GF,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt - no_errors EGF HGNC EHD4 30844 genome.wustl.edu 37 15 42193115 42193115 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 42193115 42193115 C T SNP EHD4 ENST00000220325 human ensembl 70_37 -1 known missense c.1354 p.D452N 1.000 smart_EPS15_homology,pfscan_EPS15_homology pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD4 HGNC ELF3 1999 genome.wustl.edu 37 1 201981105 201981105 + Nonsense_Mutation SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 201981105 201981105 G T SNP ELF3 ENST00000359651 human ensembl 70_37 +1 known nonsense c.184 p.E62* 0.564 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets - no_errors ELF3 HGNC ELF3 1999 genome.wustl.edu 37 1 201981549 201981549 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 201981549 201981549 G A SNP ELF3 ENST00000359651 human ensembl 70_37 +1 known missense c.463 p.D155N 0.053 NULL pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets - no_errors ELF3 HGNC ELF3 1999 genome.wustl.edu 37 1 201982373 201982373 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 201982373 201982373 G A SNP ELF3 ENST00000359651 human ensembl 70_37 +1 known missense c.752 p.R251Q 0.996 NULL pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets - no_errors ELF3 HGNC EMCN 51705 genome.wustl.edu 37 4 101401162 101401164 + In_Frame_Del DEL AAC AAC - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 AAC AAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 101401162 101401164 AAC - DEL EMCN ENST00000296420 human ensembl 70_37 -1 known in_frame_del c.99_97 p.V33in_frame_del 0.000:0.000:0.000 pfam_Endomucin pfam_Endomucin - no_errors EMCN HGNC EME1 146956 genome.wustl.edu 37 17 48452978 48452979 + In_Frame_Ins INS - - AGC TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 48452978 48452979 - AGC INS EME1 ENST00000393271 human ensembl 70_37 +1 known in_frame_ins c.409_410 p.138in_frame_insQ 0.140:0.176 NULL pfam_ERCC4_domain,smart_ERCC4_domain - no_errors EME1 HGNC ENSG00000161103 0 genome.wustl.edu 37 22 18844654 18844654 + RNA SNP T T A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 18844654 18844654 T A SNP ENSG00000161103 ENST00000412938 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors AC008103.5 Clone_based_vega_gene ENSG00000197210 0 genome.wustl.edu 37 22 21470273 21470273 + RNA SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 21470273 21470273 C T SNP ENSG00000197210 ENST00000420508 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors KB-1592A4.15 Clone_based_vega_gene ENSG00000218819 0 genome.wustl.edu 37 2 21366018 21366018 + Silent SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 21366018 21366018 A G SNP ENSG00000218819 ENST00000405799 human ensembl 70_37 +1 novel silent c.5679 p.V1893 0.977 superfamily_Staphylococal_nuclease_OB-fold pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors AC010872.2 Clone_based_vega_gene ENSG00000225057 0 genome.wustl.edu 37 2 239142249 239142249 + RNA SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 239142249 239142249 C T SNP ENSG00000225057 ENST00000456601 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AC096574.4 Clone_based_vega_gene ENSG00000225766 0 genome.wustl.edu 37 14 24517441 24517441 + RNA SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 14 24517441 24517441 G A SNP ENSG00000225766 ENST00000558293 human ensembl 70_37 +1 known rna NULL NULL 0.104 - - - no_errors RP11-468E2.9 Clone_based_vega_gene ENSG00000228189 0 genome.wustl.edu 37 9 91262343 91262344 + RNA INS - - TGG TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 91262343 91262344 - TGG INS ENSG00000228189 ENST00000418343 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP13-60M5.2 Clone_based_vega_gene ENSG00000243536 0 genome.wustl.edu 37 10 47640061 47640061 + RNA SNP C C A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 10 47640061 47640061 C A SNP ENSG00000243536 ENST00000543148 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-292F22.6 Clone_based_vega_gene ENSG00000255258 0 genome.wustl.edu 37 11 133668128 133668128 + RNA SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 133668128 133668128 G A SNP ENSG00000255258 ENST00000530621 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-448P19.1 Clone_based_vega_gene ENSG00000257198 0 genome.wustl.edu 37 9 34834494 34834494 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 34834494 34834494 C T SNP ENSG00000257198 ENST00000455647 human ensembl 70_37 -1 known missense c.995 p.R332H 0.759 NULL NULL - no_errors FAM205B Uniprot_genename ENSG00000261064 0 genome.wustl.edu 37 15 32878265 32878265 + RNA SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 32878265 32878265 A G SNP ENSG00000261064 ENST00000564670 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-1000B6.3 Clone_based_vega_gene ENSG00000262115 0 genome.wustl.edu 37 17 79173392 79173392 + RNA SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 79173392 79173392 G A SNP ENSG00000262115 ENST00000571085 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-455O6.2 Clone_based_vega_gene ENSG00000263126 0 genome.wustl.edu 37 16 67917366 67917366 + RNA SNP C C A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 67917366 67917366 C A SNP ENSG00000263126 ENST00000572067 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTC-479C5.10 Clone_based_vega_gene ENSG00000266734 0 genome.wustl.edu 37 8 105447684 105447684 + RNA SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 105447684 105447684 C G SNP ENSG00000266734 ENST00000579547 human ensembl 70_37 -1 novel rna NULL NULL 0.035 - - - no_errors AP003471.3 Clone_based_ensembl_gene ENSG00000266999 0 genome.wustl.edu 37 17 34236083 34236083 + RNA SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 34236083 34236083 C T SNP ENSG00000266999 ENST00000587132 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors AC015849.16 Clone_based_vega_gene ENSG00000267157 0 genome.wustl.edu 37 19 5784377 5784377 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 5784377 5784377 G A SNP ENSG00000267157 ENST00000586012 human ensembl 70_37 -1 putative missense c.220 p.P74S 0.003 NULL NULL - no_errors CTB-54O9.9 Clone_based_vega_gene ENSG00000267462 0 genome.wustl.edu 37 18 57677665 57677665 + RNA SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 18 57677665 57677665 C G SNP ENSG00000267462 ENST00000585691 human ensembl 70_37 +1 known rna NULL NULL 0.761 - - - no_errors RP11-866E20.3 Clone_based_vega_gene ENSG00000267698 0 genome.wustl.edu 37 19 36510251 36510251 + RNA SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 36510251 36510251 G C SNP ENSG00000267698 ENST00000586962 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors AC002116.7 Clone_based_vega_gene ENSG00000268199 0 genome.wustl.edu 37 19 18554204 18554205 + RNA INS - - AC TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 18554204 18554205 - AC INS ENSG00000268199 ENST00000594590 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.003 - - - no_errors CTD-3137H5.1 Clone_based_vega_gene ENTPD2 954 genome.wustl.edu 37 9 139946066 139946066 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 139946066 139946066 C T SNP ENTPD2 ENST00000355097 human ensembl 70_37 -1 known silent c.282 p.Q94 0.999 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD2 HGNC EPB41L3 23136 genome.wustl.edu 37 18 5630528 5630528 + RNA SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 18 5630528 5630528 C T SNP EPB41L3 ENST00000578431 human ensembl 70_37 -1 known rna NULL NULL 0.193 - - - no_errors EPB41L3 HGNC EPHA1-AS1 285965 genome.wustl.edu 37 7 143219873 143219873 + RNA SNP T T G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 143219873 143219873 T G SNP EPHA1-AS1 ENST00000429289 human ensembl 70_37 +1 known rna NULL NULL 0.168 - - - no_errors EPHA1-AS1 HGNC EPHX1 2052 genome.wustl.edu 37 1 226019653 226019653 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 226019653 226019653 G A SNP EPHX1 ENST00000272167 human ensembl 70_37 +1 known silent c.357 p.K119 1.000 pfam_Epoxide_hydro_N,pirsf_Epoxide_hydrolase pfam_Epoxide_hydro_N,pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase,prints_Epox_hydrolase-like - no_errors EPHX1 HGNC EPX 8288 genome.wustl.edu 37 17 56277684 56277684 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 56277684 56277684 C T SNP EPX ENST00000225371 human ensembl 70_37 +1 known missense c.1636 p.R546W 0.001 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors EPX HGNC EXTL3 2137 genome.wustl.edu 37 8 28575450 28575450 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 28575450 28575450 C T SNP EXTL3 ENST00000220562 human ensembl 70_37 +1 known missense c.1874 p.S625L 1.000 NULL pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL3 HGNC FAM102A 399665 genome.wustl.edu 37 9 130707744 130707744 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 130707744 130707744 C T SNP FAM102A ENST00000373095 human ensembl 70_37 -1 known missense c.819 p.M273I 0.879 NULL pfam_NT-C2 - no_errors FAM102A HGNC AMER1 139285 genome.wustl.edu 37 X 63409824 63409824 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 X 63409824 63409824 C T SNP FAM123B ENST00000330258 human ensembl 70_37 -1 known missense c.3343 p.E1115K 0.000 NULL pfam_Uncharacterised_FAM123 - no_errors FAM123B HGNC FAM153A 285596 genome.wustl.edu 37 5 177151329 177151329 + Missense_Mutation SNP T T G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 177151329 177151329 T G SNP FAM153A ENST00000360669 human ensembl 70_37 -1 known missense c.806 p.E269A 0.000 NULL prints_FAM153 - no_errors FAM153A HGNC FAM153B 202134 genome.wustl.edu 37 5 175520229 175520229 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 175520229 175520229 G A SNP FAM153B ENST00000253490 human ensembl 70_37 +1 known silent c.291 p.R97 0.000 prints_FAM153 prints_FAM153 - no_errors FAM153B HGNC FAM171B 165215 genome.wustl.edu 37 2 187559047 187559048 + In_Frame_Ins INS - - CAA TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 187559047 187559048 - CAA INS FAM171B ENST00000304698 human ensembl 70_37 +1 known in_frame_ins c.147_148 p.53in_frame_insQ 0.634:0.592 NULL pfam_Uncharacterised_FAM171 - no_errors FAM171B HGNC FAM177A1 283635 genome.wustl.edu 37 14 35546373 35546373 + Silent SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 14 35546373 35546373 T C SNP FAM177A1 ENST00000280987 human ensembl 70_37 +1 known silent c.357 p.G119 0.981 NULL NULL - no_errors FAM177A1 HGNC FAM205A 259308 genome.wustl.edu 37 9 34725047 34725047 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 34725047 34725047 C T SNP FAM205A ENST00000378788 human ensembl 70_37 -1 novel silent c.2190 p.P730 0.000 NULL NULL - no_errors FAM205A HGNC FAM205A 259308 genome.wustl.edu 37 9 34725742 34725742 + Missense_Mutation SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 34725742 34725742 T C SNP FAM205A ENST00000378788 human ensembl 70_37 -1 novel missense c.1495 p.M499V 0.000 NULL NULL - no_errors FAM205A HGNC FAM81B 153643 genome.wustl.edu 37 5 94728539 94728539 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 94728539 94728539 G C SNP FAM81B ENST00000283357 human ensembl 70_37 +1 known missense c.166 p.E56Q 0.000 NULL NULL - no_errors FAM81B HGNC FAM86HP 729375 genome.wustl.edu 37 3 129818153 129818153 + RNA DEL A A - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 129818153 129818153 A - DEL FAM86HP ENST00000511564 human ensembl 70_37 -1 putative rna NULL NULL 0.428 - - - no_errors FAM86HP HGNC FAM86JP 100125556 genome.wustl.edu 37 3 125647512 125647512 + RNA SNP T T G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 125647512 125647512 T G SNP FAM86JP ENST00000467239 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors FAM86JP HGNC FBXW10 10517 genome.wustl.edu 37 17 18659415 18659415 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 18659415 18659415 G C SNP FBXW10 ENST00000308799 human ensembl 70_37 +1 known missense c.1267 p.E423Q 1.000 superfamily_F-box_dom_cyclin-like pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW10 HGNC FCGBP 8857 genome.wustl.edu 37 19 40402410 40402410 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 40402410 40402410 G A SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known silent c.4989 p.G1663 0.001 smart_Fol_N,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC FCHO1 23149 genome.wustl.edu 37 19 17883355 17883355 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 17883355 17883355 G C SNP FCHO1 ENST00000252771 human ensembl 70_37 +1 known missense c.684 p.Q228H 0.997 NULL pfam_Muniscin_C-term_mu_dom,pfam_FCH,superfamily_Clathrin_mu_C,smart_FCH,pfscan_FCH - no_errors FCHO1 HGNC FCHO2 115548 genome.wustl.edu 37 5 72350364 72350364 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 72350364 72350364 C T SNP FCHO2 ENST00000430046 human ensembl 70_37 +1 known missense c.1198 p.R400W 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_FCH,smart_FCH,pfscan_FCH - no_errors FCHO2 HGNC FER1L6 654463 genome.wustl.edu 37 8 124998374 124998374 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 124998374 124998374 C T SNP FER1L6 ENST00000399018 human ensembl 70_37 +1 known missense c.1477 p.R493W 1.000 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors FER1L6 HGNC FES 2242 genome.wustl.edu 37 15 91428290 91428290 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 91428290 91428290 C T SNP FES ENST00000328850 human ensembl 70_37 +1 known silent c.15 p.S5 0.022 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_FCH,smart_FCH,pfscan_FCH pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_FCH,superfamily_Kinase-like_dom,superfamily_t-SNARE,smart_FCH,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH,pfscan_SH2,pfscan_Prot_kinase_cat_dom - no_errors FES HGNC FGD3 89846 genome.wustl.edu 37 9 95797696 95797696 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 95797696 95797696 C T SNP FGD3 ENST00000337352 human ensembl 70_37 +1 known missense c.2003 p.S668L 0.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD3 HGNC FGGY 55277 genome.wustl.edu 37 1 60228310 60228311 + RNA INS - - TC TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 60228310 60228311 - TC INS FGGY ENST00000471169 human ensembl 70_37 +1 known rna NULL NULL 0.775:0.824 - - - no_errors FGGY HGNC FIG4 9896 genome.wustl.edu 37 6 110107615 110107615 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 110107615 110107615 G C SNP FIG4 ENST00000230124 human ensembl 70_37 +1 known missense c.2059 p.D687H 1.000 NULL pfam_Syja_N,pfscan_Syja_N - no_errors FIG4 HGNC FKBP7 51661 genome.wustl.edu 37 2 179330469 179330469 + RNA DEL A A - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 179330469 179330469 A - DEL FKBP7 ENST00000464248 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FKBP7 HGNC FKBPL 63943 genome.wustl.edu 37 6 32096556 32096556 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 32096556 32096556 C T SNP FKBPL ENST00000375156 human ensembl 70_37 -1 known silent c.1002 p.K334 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FKBPL HGNC FKBPL 63943 genome.wustl.edu 37 6 32097077 32097077 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 32097077 32097077 C G SNP FKBPL ENST00000375156 human ensembl 70_37 -1 known missense c.481 p.E161Q 0.994 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FKBPL HGNC FKBPL 63943 genome.wustl.edu 37 6 32097143 32097143 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 32097143 32097143 C G SNP FKBPL ENST00000375156 human ensembl 70_37 -1 known missense c.415 p.E139Q 0.999 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FKBPL HGNC FNBP1L 54874 genome.wustl.edu 37 1 93988993 93988993 + Missense_Mutation SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 93988993 93988993 G T SNP FNBP1L ENST00000271234 human ensembl 70_37 +1 known missense c.287 p.R96I 1.000 NULL pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain - no_errors FNBP1L HGNC FNDC9 408263 genome.wustl.edu 37 5 156769931 156769931 + Missense_Mutation SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 156769931 156769931 G T SNP FNDC9 ENST00000312349 human ensembl 70_37 -1 known missense c.614 p.A205E 0.000 NULL superfamily_Fibronectin_type3 - no_errors FNDC9 HGNC FOSB 2354 genome.wustl.edu 37 19 45975845 45975845 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 45975845 45975845 G C SNP FOSB ENST00000353609 human ensembl 70_37 +1 known missense c.592 p.E198Q 1.000 pfam_bZIP,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSB HGNC FOXH1 8928 genome.wustl.edu 37 8 145700624 145700624 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 145700624 145700624 G A SNP FOXH1 ENST00000377317 human ensembl 70_37 -1 known silent c.195 p.A65 0.562 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXH1 HGNC FOXP2 93986 genome.wustl.edu 37 7 114329979 114329979 + Nonstop_Mutation SNP T T A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 114329979 114329979 T A SNP FOXP2 ENST00000408937 human ensembl 70_37 +1 known nonstop c.2221 p.*741R 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP2 HGNC FOXP4 116113 genome.wustl.edu 37 6 41555242 41555242 + Silent SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 41555242 41555242 G C SNP FOXP4 ENST00000307972 human ensembl 70_37 +1 known silent c.864 p.R288 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP4 HGNC FOXRED2 80020 genome.wustl.edu 37 22 36892065 36892065 + Missense_Mutation SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 36892065 36892065 G T SNP FOXRED2 ENST00000216187 human ensembl 70_37 -1 known missense c.1573 p.Q525K 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FOXRED2 HGNC FRMPD2 143162 genome.wustl.edu 37 10 49388901 49388901 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 10 49388901 49388901 C T SNP FRMPD2 ENST00000374201 human ensembl 70_37 -1 known missense c.2735 p.G912E 0.000 NULL pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC FRRS1 391059 genome.wustl.edu 37 1 100185200 100185200 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 100185200 100185200 C T SNP FRRS1 ENST00000287474 human ensembl 70_37 -1 known missense c.1010 p.R337Q 0.651 smart_DOMON_domain,pfscan_Cyt_b561/ferric_Rdtase_TM pfam_Reeler_dom,pfam_DOMON_domain,smart_DOMON_domain,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_DOMON_domain,pfscan_Reeler_dom,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors FRRS1 HGNC GABRB1 2560 genome.wustl.edu 37 4 47405722 47405722 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 47405722 47405722 G A SNP GABRB1 ENST00000295454 human ensembl 70_37 +1 known missense c.829 p.A277T 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB1 HGNC GJC2 57165 genome.wustl.edu 37 1 228346171 228346171 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 228346171 228346171 G A SNP GJC2 ENST00000366714 human ensembl 70_37 +1 known missense c.712 p.E238K 0.998 pfam_Connexin_CCC pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJC2 HGNC GNB1L 54584 genome.wustl.edu 37 22 19776159 19776160 + RNA INS - - G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 19776159 19776160 - G INS GNB1L ENST00000460402 human ensembl 70_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors GNB1L HGNC GNS 2799 genome.wustl.edu 37 12 65146511 65146511 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 65146511 65146511 G A SNP GNS ENST00000258145 human ensembl 70_37 -1 known silent c.219 p.L73 0.984 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase - no_errors GNS HGNC GOLGA8EP 390535 genome.wustl.edu 37 15 23445354 23445354 + RNA SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 23445354 23445354 C G SNP GOLGA8EP ENST00000526079 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors GOLGA8EP HGNC GOLGA8H 728498 genome.wustl.edu 37 15 30905994 30905994 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 30905994 30905994 G A SNP GOLGA8H ENST00000566740 human ensembl 70_37 +1 novel missense c.1390 p.E464K 1.000 NULL NULL - no_errors GOLGA8H HGNC GOLGA8I 283796 genome.wustl.edu 37 15 23259270 23259270 + Silent SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 23259270 23259270 A G SNP GOLGA8I ENST00000450802 human ensembl 70_37 +1 known silent c.324 p.K108 0.243 NULL NULL - no_errors GOLGA8I HGNC GOLGB1 2804 genome.wustl.edu 37 3 121412667 121412667 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 121412667 121412667 C G SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.6688 p.E2230Q 1.000 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC GOLGB1 2804 genome.wustl.edu 37 3 121433719 121433719 + Nonsense_Mutation SNP C C A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 121433719 121433719 C A SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known nonsense c.1378 p.E460* 0.284 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC GPC6 10082 genome.wustl.edu 37 13 95055328 95055328 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 13 95055328 95055328 G A SNP GPC6 ENST00000377047 human ensembl 70_37 +1 known missense c.1525 p.E509K 1.000 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC GRIK1 2897 genome.wustl.edu 37 21 30961186 30961186 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 21 30961186 30961186 G A SNP GRIK1 ENST00000535441 human ensembl 70_37 -1 known silent c.1548 p.N516 1.000 pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK1 HGNC GRM8 2918 genome.wustl.edu 37 7 126078884 126078884 + RNA DEL T T - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 126078884 126078884 T - DEL GRM8 ENST00000489939 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors GRM8 HGNC GSTTP2 653399 genome.wustl.edu 37 22 24401740 24401740 + RNA SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 24401740 24401740 C T SNP GSTTP2 ENST00000389399 human ensembl 70_37 -1 known rna NULL NULL 0.959 - - - no_errors GSTTP2 HGNC MTG2 26164 genome.wustl.edu 37 20 60768573 60768573 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 20 60768573 60768573 C T SNP GTPBP5 ENST00000370823 human ensembl 70_37 +1 known missense c.97 p.R33W 0.000 NULL pfam_GTP1_OBG_dom,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_Small_GTPase_ARF/SAR,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain,tigrfam_GTP-bd_Obg/CgtA,tigrfam_Small_GTP-bd_dom - no_errors GTPBP5 HGNC H19 283120 genome.wustl.edu 37 11 2016662 2016662 + RNA SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 2016662 2016662 T C SNP H19 ENST00000411754 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors H19 HGNC HBS1L 10767 genome.wustl.edu 37 6 135286429 135286429 + Splice_Site SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 135286429 135286429 C T SNP HBS1L ENST00000367837 human ensembl 70_37 -1 known splice_site c.2044-1 e18-1 1.000 - - - no_errors HBS1L HGNC HBS1L 10767 genome.wustl.edu 37 6 135287550 135287550 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 135287550 135287550 C G SNP HBS1L ENST00000367837 human ensembl 70_37 -1 known missense c.1960 p.E654Q 1.000 pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C pfam_DUF1916,pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom - no_errors HBS1L HGNC HCAR3 8843 genome.wustl.edu 37 12 123200354 123200354 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 123200354 123200354 G A SNP HCAR3 ENST00000528880 human ensembl 70_37 -1 known missense c.931 p.R311C 0.015 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors HCAR3 HGNC HCFC1 3054 genome.wustl.edu 37 X 153224134 153224134 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 X 153224134 153224134 C T SNP HCFC1 ENST00000310441 human ensembl 70_37 -1 known silent c.1689 p.S563 0.933 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC HCN3 57657 genome.wustl.edu 37 1 155258445 155258445 + RNA SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 155258445 155258445 A G SNP HCN3 ENST00000492035 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors HCN3 HGNC HELQ 113510 genome.wustl.edu 37 4 84337943 84337943 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 84337943 84337943 C T SNP HELQ ENST00000295488 human ensembl 70_37 -1 known missense c.3139 p.V1047I 0.824 superfamily_DNA_repair_Rad51/TF_NusA_a-hlx pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELQ HGNC HILPDA 29923 genome.wustl.edu 37 7 128098199 128098199 + RNA DEL T T - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 128098199 128098199 T - DEL HILPDA ENST00000466473 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors HILPDA HGNC HIST1H2BC 8347 genome.wustl.edu 37 6 26123911 26123911 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 26123911 26123911 G C SNP HIST1H2BC ENST00000314332 human ensembl 70_37 -1 known missense c.222 p.I74M 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BC HGNC HLA-DQB1 3119 genome.wustl.edu 37 6 32629764 32629764 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 32629764 32629764 C T SNP HLA-DQB1 ENST00000374943 human ensembl 70_37 -1 known missense c.641 p.S214N 0.989 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DQB1 HGNC HLA-DQB1 3119 genome.wustl.edu 37 6 32629891 32629891 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 32629891 32629891 C T SNP HLA-DQB1 ENST00000374943 human ensembl 70_37 -1 known missense c.514 p.A172T 0.053 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DQB1 HGNC HLA-V 352962 genome.wustl.edu 37 6 29761280 29761280 + RNA SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 29761280 29761280 G T SNP HLA-V ENST00000457107 human ensembl 70_37 +1 known rna NULL NULL 0.016 - - - no_errors HLA-V HGNC HOXC13 3229 genome.wustl.edu 37 12 54333242 54333242 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 54333242 54333242 G A SNP HOXC13 ENST00000243056 human ensembl 70_37 +1 known silent c.552 p.A184 0.995 NULL pfam_Homeodomain,pfam_HoxA13_N,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors HOXC13 HGNC IL12A 3592 genome.wustl.edu 37 3 159707994 159707994 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 159707994 159707994 C T SNP IL12A ENST00000305579 human ensembl 70_37 +1 known silent c.159 p.L53 0.000 pfam_IL12 pfam_IL12,superfamily_4_helix_cytokine-like_core - no_errors IL12A HGNC IL12RB1 3594 genome.wustl.edu 37 19 18179257 18179257 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 18179257 18179257 G A SNP IL12RB1 ENST00000430026 human ensembl 70_37 -1 known silent c.1269 p.H423 0.260 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB1 HGNC INHBC 3626 genome.wustl.edu 37 12 57843668 57843668 + Missense_Mutation SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 57843668 57843668 G T SNP INHBC ENST00000309668 human ensembl 70_37 +1 known missense c.922 p.A308S 0.003 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC - no_errors INHBC HGNC INO80 54617 genome.wustl.edu 37 15 41364136 41364136 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 41364136 41364136 C G SNP INO80 ENST00000361937 human ensembl 70_37 -1 known missense c.1516 p.E506Q 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors INO80 HGNC INPP4A 3631 genome.wustl.edu 37 2 99198162 99198162 + Silent SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 99198162 99198162 G T SNP INPP4A ENST00000409540 human ensembl 70_37 +1 known silent c.2808 p.L936 1.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors INPP4A HGNC INTS4 92105 genome.wustl.edu 37 11 77629950 77629950 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 77629950 77629950 G A SNP INTS4 ENST00000534064 human ensembl 70_37 -1 known silent c.1839 p.F613 0.999 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors INTS4 HGNC INVS 27130 genome.wustl.edu 37 9 103035345 103035345 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 103035345 103035345 G C SNP INVS ENST00000262457 human ensembl 70_37 +1 known missense c.1771 p.D591H 1.000 NULL pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC IPPK 64768 genome.wustl.edu 37 9 95400399 95400399 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 95400399 95400399 C T SNP IPPK ENST00000287996 human ensembl 70_37 -1 known missense c.800 p.R267Q 0.349 pfam_Ins_P5_2-kin pfam_Ins_P5_2-kin - no_errors IPPK HGNC IQCF1 132141 genome.wustl.edu 37 3 51928921 51928921 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 51928921 51928921 G C SNP IQCF1 ENST00000310914 human ensembl 70_37 -1 known missense c.603 p.F201L 0.996 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCF1 HGNC IRF5 3663 genome.wustl.edu 37 7 128587476 128587476 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 128587476 128587476 G A SNP IRF5 ENST00000357234 human ensembl 70_37 +1 known missense c.674 p.G225D 0.148 NULL pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF5 HGNC ISL2 64843 genome.wustl.edu 37 15 76632843 76632843 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 76632843 76632843 C G SNP ISL2 ENST00000290759 human ensembl 70_37 +1 known missense c.738 p.D246E 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors ISL2 HGNC ITIH5 80760 genome.wustl.edu 37 10 7679252 7679252 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 10 7679252 7679252 G A SNP ITIH5 ENST00000256861 human ensembl 70_37 -1 known silent c.591 p.I197 0.049 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC JHDM1D 80853 genome.wustl.edu 37 7 139797431 139797431 + Missense_Mutation SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 139797431 139797431 G T SNP JHDM1D ENST00000397560 human ensembl 70_37 -1 known missense c.1930 p.R644S 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors JHDM1D HGNC JRKL 8690 genome.wustl.edu 37 11 96125364 96125364 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 96125364 96125364 G A SNP JRKL ENST00000332349 human ensembl 70_37 +1 known silent c.1551 p.Q517 1.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors JRKL HGNC KANK1 23189 genome.wustl.edu 37 9 734665 734666 + RNA INS - - A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 734665 734666 - A INS KANK1 ENST00000489369 human ensembl 70_37 +1 known rna NULL NULL 0.002:0.002 - - - no_errors KANK1 HGNC KCNAB1 7881 genome.wustl.edu 37 3 156254594 156254594 + RNA SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 156254594 156254594 G A SNP KCNAB1 ENST00000497291 human ensembl 70_37 +1 known rna NULL NULL 0.621 - - - no_errors KCNAB1 HGNC KCNC4 3749 genome.wustl.edu 37 1 110765970 110765970 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 110765970 110765970 C T SNP KCNC4 ENST00000369787 human ensembl 70_37 +1 known silent c.1063 p.L355 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC4 HGNC KCNJ10 3766 genome.wustl.edu 37 1 160012204 160012204 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 160012204 160012204 C T SNP KCNJ10 ENST00000368089 human ensembl 70_37 -1 known missense c.119 p.R40K 0.980 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.2,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ10 HGNC KCNV1 27012 genome.wustl.edu 37 8 110980666 110980666 + Nonsense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 110980666 110980666 C T SNP KCNV1 ENST00000297404 human ensembl 70_37 -1 known nonsense c.1154 p.W385* 1.000 pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC KCP 375616 genome.wustl.edu 37 7 128526788 128526788 + RNA SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 128526788 128526788 C G SNP KCP ENST00000297801 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors KCP HGNC KHDRBS1 10657 genome.wustl.edu 37 1 32508884 32508884 + RNA DEL A A - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 32508884 32508884 A - DEL KHDRBS1 ENST00000307714 human ensembl 70_37 +1 known rna NULL NULL 0.991 - - - no_errors KHDRBS1 HGNC KIAA1199 57214 genome.wustl.edu 37 15 81241206 81241206 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 81241206 81241206 C T SNP KIAA1199 ENST00000220244 human ensembl 70_37 +1 known missense c.4027 p.H1343Y 0.499 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC KIAA1755 85449 genome.wustl.edu 37 20 36850988 36850988 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 20 36850988 36850988 C T SNP KIAA1755 ENST00000279024 human ensembl 70_37 -1 known silent c.2280 p.R760 0.379 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC KIAA1841 84542 genome.wustl.edu 37 2 61361326 61361326 + Frame_Shift_Del DEL G G - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 61361326 61361326 G - DEL KIAA1841 ENST00000295031 human ensembl 70_37 +1 known frame_shift_del c.2083 p.G695fs 0.088 NULL pfam_DUF3342,superfamily_BTB/POZ_fold,superfamily_Homeodomain-like - no_errors KIAA1841 HGNC KIAA2026 158358 genome.wustl.edu 37 9 5923156 5923156 + Missense_Mutation SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 5923156 5923156 A G SNP KIAA2026 ENST00000399933 human ensembl 70_37 -1 novel missense c.2840 p.L947P 1.000 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC KIAA2026 158358 genome.wustl.edu 37 9 5988363 5988363 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 5988363 5988363 C G SNP KIAA2026 ENST00000399933 human ensembl 70_37 -1 novel missense c.776 p.R259T 1.000 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC KLHL20 27252 genome.wustl.edu 37 1 173735316 173735316 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 173735316 173735316 G A SNP KLHL20 ENST00000209884 human ensembl 70_37 +1 known missense c.1183 p.D395N 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL20 HGNC KLHL23 151230 genome.wustl.edu 37 2 170591825 170591825 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 170591825 170591825 G C SNP KLHL23 ENST00000272797 human ensembl 70_37 +1 known missense c.301 p.E101Q 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL23 HGNC KRT1 3848 genome.wustl.edu 37 12 53069235 53069235 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 53069235 53069235 G A SNP KRT1 ENST00000252244 human ensembl 70_37 -1 known silent c.1677 p.Y559 0.007 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC KRT1 3848 genome.wustl.edu 37 12 53069243 53069243 + Missense_Mutation SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 53069243 53069243 T C SNP KRT1 ENST00000252244 human ensembl 70_37 -1 known missense c.1669 p.S557G 0.300 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC KRT16P2 400578 genome.wustl.edu 37 17 16735648 16735648 + RNA SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 16735648 16735648 C T SNP KRT16P2 ENST00000579062 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors KRT16P2 HGNC KRTAP4-7 100132476 genome.wustl.edu 37 17 39240673 39240673 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 39240673 39240673 C G SNP KRTAP4-7 ENST00000391417 human ensembl 70_37 +1 known missense c.215 p.T72R 0.004 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-7 HGNC KRTAP4-8 728224 genome.wustl.edu 37 17 39254335 39254336 + Frame_Shift_Ins INS - - T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 39254335 39254336 - T INS KRTAP4-8 ENST00000333822 human ensembl 70_37 -1 known frame_shift_ins c.2_1 p.M1fs 1.000:1.000 NULL pfam_Keratin-assoc - no_errors KRTAP4-8 HGNC LAD1 3898 genome.wustl.edu 37 1 201356002 201356004 + In_Frame_Del DEL CCA CCA - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 CCA CCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 201356002 201356004 CCA - DEL LAD1 ENST00000367313 human ensembl 70_37 -1 known in_frame_del c.529_527 p.V176in_frame_del 0.000:0.000:0.000 pirsf_Ladinin_1 pirsf_Ladinin_1 - no_errors LAD1 HGNC LAMA1 284217 genome.wustl.edu 37 18 6983109 6983109 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 18 6983109 6983109 C T SNP LAMA1 ENST00000389658 human ensembl 70_37 -1 known missense c.5785 p.E1929K 0.000 NULL pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC LBX2 85474 genome.wustl.edu 37 2 74729814 74729814 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 74729814 74729814 G A SNP LBX2 ENST00000460508 human ensembl 70_37 -1 known missense c.173 p.S58L 0.007 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors LBX2 HGNC LEPR 3953 genome.wustl.edu 37 1 66087044 66087044 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 66087044 66087044 G A SNP LEPR ENST00000349533 human ensembl 70_37 +1 known missense c.2500 p.E834K 0.031 NULL pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LEPR HGNC LGALS1 3956 genome.wustl.edu 37 22 38071707 38071707 + RNA SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 38071707 38071707 A G SNP LGALS1 ENST00000480207 human ensembl 70_37 +1 known rna NULL NULL 0.037 - - - no_errors LGALS1 HGNC LMO1 4004 genome.wustl.edu 37 11 8251849 8251849 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 8251849 8251849 G A SNP LMO1 ENST00000335790 human ensembl 70_37 -1 known silent c.228 p.R76 0.334 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMO1 HGNC LOC100128340 100128340 genome.wustl.edu 37 5 177309472 177309472 + RNA SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 177309472 177309472 A G SNP LOC100128340 ENST00000358442 human ensembl 70_37 +1 known rna NULL NULL 0.982 - - - no_errors RP11-423H2.1 Clone_based_vega_gene LOC100131825 100131825 genome.wustl.edu 37 1 159166883 159166883 + RNA SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 159166883 159166883 C T SNP LOC100131825 ENST00000415675 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTA-134P22.2 Clone_based_vega_gene LOC100132159 100132159 genome.wustl.edu 37 10 5558145 5558146 + RNA INS - - C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 10 5558145 5558146 - C INS LOC100132159 ENST00000380330 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors RP11-116G8.4 Clone_based_vega_gene LOC100132247 100132247 genome.wustl.edu 37 16 22545321 22545321 + Silent SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 22545321 22545321 C G SNP LOC100132247 ENST00000424340 human ensembl 70_37 +1 known silent c.1017 p.L339 0.885 pfam_NPIP pfam_NPIP - no_errors 61E3.4 Uniprot_genename LOC152586 152586 genome.wustl.edu 37 4 141383121 141383121 + Missense_Mutation SNP A A T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 141383121 141383121 A T SNP LOC152586 ENST00000511113 human ensembl 70_37 -1 putative missense c.724 p.L242M 1.000 pfam_Glyco_transf_54 pfam_Glyco_transf_54 - no_errors RP11-542P2.1 Clone_based_vega_gene LOC152586 152586 genome.wustl.edu 37 4 141403529 141403529 + Nonsense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 141403529 141403529 G A SNP LOC152586 ENST00000511113 human ensembl 70_37 -1 putative nonsense c.205 p.R69* 0.000 NULL pfam_Glyco_transf_54 - no_errors RP11-542P2.1 Clone_based_vega_gene LOC283335 283335 genome.wustl.edu 37 12 53439347 53439347 + RNA SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 53439347 53439347 A G SNP LOC283335 ENST00000546793 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-983P16.4 Clone_based_vega_gene LOC440570 440570 genome.wustl.edu 37 1 17198851 17198851 + RNA SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 17198851 17198851 G C SNP LOC440570 ENST00000438002 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-108M9.3 Clone_based_vega_gene LOC440570 440570 genome.wustl.edu 37 1 17198882 17198882 + RNA SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 17198882 17198882 C T SNP LOC440570 ENST00000438002 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-108M9.3 Clone_based_vega_gene LOC440981 440981 genome.wustl.edu 37 3 146113577 146113577 + RNA DEL T T - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 146113577 146113577 T - DEL LOC440981 ENST00000490344 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-758I14.3 Clone_based_vega_gene LOC729218 729218 genome.wustl.edu 37 4 119551832 119551832 + RNA SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 119551832 119551832 G A SNP LOC729218 ENST00000567913 human ensembl 70_37 +1 known rna NULL NULL 0.172 - - - no_errors RP11-384K6.6 Clone_based_vega_gene LOC729305 729305 genome.wustl.edu 37 11 134605647 134605647 + RNA SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 134605647 134605647 A G SNP LOC729305 ENST00000513405 human ensembl 70_37 +1 putative rna NULL NULL 0.010 - - - no_errors RP11-469N6.1 Clone_based_vega_gene LOC729305 729305 genome.wustl.edu 37 11 134605754 134605754 + RNA SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 134605754 134605754 C T SNP LOC729305 ENST00000513405 human ensembl 70_37 +1 putative rna NULL NULL 0.567 - - - no_errors RP11-469N6.1 Clone_based_vega_gene LOC729461 729461 genome.wustl.edu 37 22 20640559 20640559 + RNA SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 20640559 20640559 A G SNP LOC729461 ENST00000577456 human ensembl 70_37 -1 known rna NULL NULL 0.961 - - - no_errors AC011718.2 Clone_based_vega_gene LRRC37A 9884 genome.wustl.edu 37 17 44374710 44374710 + Silent SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 44374710 44374710 A G SNP LRRC37A ENST00000320254 human ensembl 70_37 +1 known silent c.2211 p.P737 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A HGNC LRRC37A 9884 genome.wustl.edu 37 17 44374957 44374957 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 44374957 44374957 G C SNP LRRC37A ENST00000320254 human ensembl 70_37 +1 known missense c.2458 p.E820Q 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A HGNC LRWD1 222229 genome.wustl.edu 37 7 102108823 102108823 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 102108823 102108823 G C SNP LRWD1 ENST00000292616 human ensembl 70_37 +1 known missense c.918 p.E306D 0.922 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LRWD1 HGNC LTF 4057 genome.wustl.edu 37 3 46480801 46480801 + Silent SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 46480801 46480801 A G SNP LTF ENST00000231751 human ensembl 70_37 -1 known silent c.1894 p.L632 0.948 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors LTF HGNC MAGEB6 158809 genome.wustl.edu 37 X 26212614 26212614 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 X 26212614 26212614 G A SNP MAGEB6 ENST00000379034 human ensembl 70_37 +1 known silent c.651 p.L217 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB6 HGNC MAN2A1 4124 genome.wustl.edu 37 5 109110547 109110547 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 109110547 109110547 C T SNP MAN2A1 ENST00000261483 human ensembl 70_37 +1 known missense c.1255 p.L419F 0.885 pfam_Glyco_hydro_38_core,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A1 HGNC MAP1B 4131 genome.wustl.edu 37 5 71411577 71411577 + Silent SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 71411577 71411577 C G SNP MAP1B ENST00000296755 human ensembl 70_37 +1 known silent c.237 p.L79 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC MAP2K3 5606 genome.wustl.edu 37 17 21215457 21215457 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 21215457 21215457 G C SNP MAP2K3 ENST00000342679 human ensembl 70_37 +1 known missense c.778 p.E260Q 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP2K3 HGNC MAP4 4134 genome.wustl.edu 37 3 47956424 47956424 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 47956424 47956424 C T SNP MAP4 ENST00000360240 human ensembl 70_37 -1 known missense c.1882 p.V628I 0.021 NULL pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP4 HGNC MAP4K1 11184 genome.wustl.edu 37 19 39096337 39096337 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 39096337 39096337 C T SNP MAP4K1 ENST00000591517 human ensembl 70_37 -1 known missense c.1234 p.G412R 0.354 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP4K1 HGNC MAP7 9053 genome.wustl.edu 37 6 136687065 136687065 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 136687065 136687065 C T SNP MAP7 ENST00000454590 human ensembl 70_37 -1 known missense c.1147 p.V383I 0.014 NULL pfam_E-MAP-115 - no_errors MAP7 HGNC MAST2 23139 genome.wustl.edu 37 1 46500934 46500934 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 46500934 46500934 G C SNP MAST2 ENST00000361297 human ensembl 70_37 +1 known missense c.4593 p.Q1531H 0.725 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_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_cat_dom - no_errors MAST2 HGNC MATN2 4147 genome.wustl.edu 37 8 99006749 99006749 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 99006749 99006749 G A SNP MATN2 ENST00000254898 human ensembl 70_37 +1 known missense c.1123 p.E375K 0.995 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_VWF_A,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A - no_errors MATN2 HGNC MDGA2 161357 genome.wustl.edu 37 14 47770696 47770696 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 14 47770696 47770696 C T SNP MDGA2 ENST00000399232 human ensembl 70_37 -1 known missense c.338 p.R113H 1.000 pfscan_Ig-like pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like - no_errors MDGA2 HGNC MEST 4232 genome.wustl.edu 37 7 130142525 130142525 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 130142525 130142525 C T SNP MEST ENST00000223215 human ensembl 70_37 +1 known missense c.790 p.R264C 1.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,pfam_DUF1057,prints_Epox_hydrolase-like - no_errors MEST HGNC METTL10 399818 genome.wustl.edu 37 10 126463297 126463297 + Nonsense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 10 126463297 126463297 G A SNP METTL10 ENST00000368836 human ensembl 70_37 -1 known nonsense c.346 p.Q116* 1.000 pfam_Methyltransf_11,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_(Gua-N-7)_MeTrfase pfam_Methyltransf_11,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_(Gua-N-7)_MeTrfase - no_errors METTL10 HGNC METTL10 399818 genome.wustl.edu 37 10 126463309 126463309 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 10 126463309 126463309 G A SNP METTL10 ENST00000368836 human ensembl 70_37 -1 known missense c.334 p.P112S 0.998 pfam_Methyltransf_11,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_(Gua-N-7)_MeTrfase pfam_Methyltransf_11,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_(Gua-N-7)_MeTrfase - no_errors METTL10 HGNC METTL10 399818 genome.wustl.edu 37 10 126463311 126463311 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 10 126463311 126463311 G A SNP METTL10 ENST00000368836 human ensembl 70_37 -1 known missense c.332 p.S111F 1.000 pfam_Methyltransf_11,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_(Gua-N-7)_MeTrfase pfam_Methyltransf_11,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_(Gua-N-7)_MeTrfase - no_errors METTL10 HGNC MFSD6 54842 genome.wustl.edu 37 2 191301100 191301100 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 191301100 191301100 C T SNP MFSD6 ENST00000281416 human ensembl 70_37 +1 known silent c.345 p.F115 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6 HGNC MIR302A 407028 genome.wustl.edu 37 4 113569401 113569403 + RNA DEL GTG GTG - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 GTG GTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 113569401 113569403 GTG - DEL MIR302A ENST00000385192 human ensembl 70_37 -1 known rna NULL NULL 1.000:1.000:0.997 - - - no_errors MIR302A HGNC KMT2D 8085 genome.wustl.edu 37 12 49425449 49425449 + Nonsense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 49425449 49425449 G A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known nonsense c.13039 p.Q4347* 0.992 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC MMP16 4325 genome.wustl.edu 37 8 89053782 89053782 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 89053782 89053782 G A SNP MMP16 ENST00000286614 human ensembl 70_37 -1 known silent c.1731 p.L577 1.000 pfam_Pept_M10A_metallopeptidase_C pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP16 HGNC MRC2 9902 genome.wustl.edu 37 17 60749358 60749358 + Splice_Site SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 60749358 60749358 G A SNP MRC2 ENST00000303375 human ensembl 70_37 +1 known splice_site c.1307-1 e8-1 1.000 - - - no_errors MRC2 HGNC MRPL18 29074 genome.wustl.edu 37 6 160211646 160211648 + In_Frame_Del DEL GTT GTT - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 GTT GTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 160211646 160211648 GTT - DEL MRPL18 ENST00000367034 human ensembl 70_37 +1 known in_frame_del c.27_29 p.L10in_frame_del 0.010:0.006:0.000 NULL pfam_Ribosomal_L18/L5 - no_errors MRPL18 HGNC MRPS33 51650 genome.wustl.edu 37 7 140710384 140710384 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 140710384 140710384 C T SNP MRPS33 ENST00000324787 human ensembl 70_37 -1 known missense c.50 p.R17Q 1.000 pfam_Ribosomal_S27/S33_mit pfam_Ribosomal_S27/S33_mit - no_errors MRPS33 HGNC MUC12 10071 genome.wustl.edu 37 7 100638812 100638812 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 100638812 100638812 C T SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known silent c.5397 p.L1799 0.000 NULL pfam_SEA - no_errors MUC12 HGNC MUC16 94025 genome.wustl.edu 37 19 9084975 9084975 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 9084975 9084975 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known silent c.6840 p.L2280 0.043 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC5B 727897 genome.wustl.edu 37 11 1264292 1264292 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 1264292 1264292 C T SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.6191 p.A2064V 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC MYBPC1 4604 genome.wustl.edu 37 12 102045046 102045046 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 102045046 102045046 G C SNP MYBPC1 ENST00000361466 human ensembl 70_37 +1 known missense c.1401 p.Q467H 0.756 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC1 HGNC MYH11 4629 genome.wustl.edu 37 16 15917215 15917215 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 15917215 15917215 G A SNP MYH11 ENST00000396324 human ensembl 70_37 -1 known silent c.399 p.I133 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH11 HGNC MYH3 4621 genome.wustl.edu 37 17 10538311 10538311 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 10538311 10538311 G A SNP MYH3 ENST00000226209 human ensembl 70_37 -1 known missense c.4202 p.S1401F 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC MYO5B 4645 genome.wustl.edu 37 18 47480737 47480737 + Missense_Mutation SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 18 47480737 47480737 G T SNP MYO5B ENST00000285039 human ensembl 70_37 -1 known missense c.1614 p.F538L 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC MYO5C 55930 genome.wustl.edu 37 15 52553091 52553091 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 52553091 52553091 C T SNP MYO5C ENST00000261839 human ensembl 70_37 -1 known silent c.1281 p.Q427 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC NAP1L2 4674 genome.wustl.edu 37 X 72432946 72432946 + Nonstop_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 X 72432946 72432946 C G SNP NAP1L2 ENST00000373517 human ensembl 70_37 -1 known nonstop c.1383 p.*461Y 0.841 NULL pfam_NAP_family - no_errors NAP1L2 HGNC NBEAL1 65065 genome.wustl.edu 37 2 204075772 204075772 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 204075772 204075772 G C SNP NBEAL1 ENST00000449802 human ensembl 70_37 +1 known missense c.7790 p.G2597A 1.000 superfamily_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC NBPF15 284565 genome.wustl.edu 37 1 148594447 148594447 + Nonsense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 148594447 148594447 C G SNP NBPF15 ENST00000369187 human ensembl 70_37 +1 known nonsense c.1820 p.S607* 0.022 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF15 HGNC NCOR1 9611 genome.wustl.edu 37 17 16012109 16012109 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 16012109 16012109 C G SNP NCOR1 ENST00000268712 human ensembl 70_37 -1 known missense c.2173 p.D725H 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC NEB 4703 genome.wustl.edu 37 2 152436012 152436012 + Missense_Mutation SNP T T G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 152436012 152436012 T G SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.16544 p.K5515T 1.000 NULL pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC NEK4 6787 genome.wustl.edu 37 3 52800349 52800349 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 52800349 52800349 G C SNP NEK4 ENST00000233027 human ensembl 70_37 -1 known missense c.403 p.Q135E 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,prints_Ser-Thr/Tyr_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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK4 HGNC NKX3-1 4824 genome.wustl.edu 37 8 23538902 23538902 + Silent SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 23538902 23538902 A G SNP NKX3-1 ENST00000380871 human ensembl 70_37 -1 known silent c.537 p.T179 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors NKX3-1 HGNC NLRP11 204801 genome.wustl.edu 37 19 56312940 56312940 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 56312940 56312940 C T SNP NLRP11 ENST00000443188 human ensembl 70_37 -1 known silent c.2169 p.L723 0.050 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP11 HGNC NME7 29922 genome.wustl.edu 37 1 169293721 169293721 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 169293721 169293721 G A SNP NME7 ENST00000367811 human ensembl 70_37 -1 known silent c.21 p.F7 0.718 smart_Uncharacterised_DM10,pirsf_NDK7 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Uncharacterised_DM10,smart_Nucleoside_diP_kinase,pirsf_NDK7,prints_Nucleoside_diP_kinase - no_errors NME7 HGNC NMT1 4836 genome.wustl.edu 37 17 43171154 43171154 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 43171154 43171154 C T SNP NMT1 ENST00000258960 human ensembl 70_37 +1 known silent c.487 p.L163 1.000 pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT1 HGNC NPHP3 27031 genome.wustl.edu 37 3 132401567 132401567 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 132401567 132401567 C T SNP NPHP3 ENST00000337331 human ensembl 70_37 -1 known silent c.3792 p.L1264 0.998 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR-3,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NPHP3 HGNC NPPB 4879 genome.wustl.edu 37 1 11917620 11917621 + RNA INS - - A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 11917620 11917621 - A INS NPPB ENST00000474547 human ensembl 70_37 -1 known rna NULL NULL 0.005:0.009 - - - no_errors NPPB HGNC NPY2R 4887 genome.wustl.edu 37 4 156135804 156135804 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 156135804 156135804 C T SNP NPY2R ENST00000329476 human ensembl 70_37 +1 known missense c.713 p.S238F 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors NPY2R HGNC NRG2 9542 genome.wustl.edu 37 5 139235358 139235358 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 139235358 139235358 C T SNP NRG2 ENST00000545385 human ensembl 70_37 -1 known missense c.1201 p.E401K 1.000 pfam_Neuregulin_1_C pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_EG-like_dom,pfscan_Ig-like - no_errors NRG2 HGNC NSA2 10412 genome.wustl.edu 37 5 74069849 74069849 + Silent SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 74069849 74069849 T C SNP NSA2 ENST00000296802 human ensembl 70_37 +1 known silent c.679 p.L227 0.965 pfam_Ribosomal_S8e/biogenesis_NSA2 pfam_Ribosomal_S8e/biogenesis_NSA2 - no_errors NSA2 HGNC NT5C3B 115024 genome.wustl.edu 37 17 39991472 39991472 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 39991472 39991472 C T SNP NT5C3L ENST00000269534 human ensembl 70_37 -1 known missense c.140 p.R47Q 1.000 pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu - no_errors NT5C3L HGNC OBSCN 84033 genome.wustl.edu 37 1 228496035 228496035 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 228496035 228496035 C T SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known silent c.12690 p.V4230 0.996 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC OBSL1 23363 genome.wustl.edu 37 2 220427347 220427347 + Silent SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 220427347 220427347 G T SNP OBSL1 ENST00000404537 human ensembl 70_37 -1 known silent c.2730 p.A910 0.398 smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors OBSL1 HGNC OGFR 11054 genome.wustl.edu 37 20 61442885 61442885 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 20 61442885 61442885 G A SNP OGFR ENST00000290291 human ensembl 70_37 +1 known silent c.537 p.G179 0.898 pfam_OGF_rcpt pfam_OGF_rcpt,pfam_OGF_rcpt_rpt - no_errors OGFR HGNC OPHN1 4983 genome.wustl.edu 37 X 67432048 67432048 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 X 67432048 67432048 C T SNP OPHN1 ENST00000355520 human ensembl 70_37 -1 known missense c.604 p.A202T 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors OPHN1 HGNC OR10K2 391107 genome.wustl.edu 37 1 158389842 158389842 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 158389842 158389842 G A SNP OR10K2 ENST00000314902 human ensembl 70_37 -1 known missense c.815 p.A272V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K2 HGNC OR1B1 347169 genome.wustl.edu 37 9 125391770 125391771 + Frame_Shift_Ins INS - - A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 125391770 125391771 - A INS OR1B1 ENST00000304833 human ensembl 70_37 -1 novel frame_shift_ins c.45_44 p.L15fs 0.004:0.028 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1B1 HGNC OR1S1 219959 genome.wustl.edu 37 11 57983167 57983167 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 57983167 57983167 C T SNP OR1S1 ENST00000309433 human ensembl 70_37 +1 known silent c.951 p.L317 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1S1 HGNC OR2M2 391194 genome.wustl.edu 37 1 248343929 248343929 + Silent SNP C C A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 248343929 248343929 C A SNP OR2M2 ENST00000359682 human ensembl 70_37 +1 known silent c.642 p.I214 0.108 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 OR2M2 HGNC OR2T12 127064 genome.wustl.edu 37 1 248458876 248458876 + Frame_Shift_Del DEL T T - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 248458876 248458876 T - DEL OR2T12 ENST00000317996 human ensembl 70_37 -1 known frame_shift_del c.5 p.E2fs 0.004 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T12 HGNC ORMDL2 29095 genome.wustl.edu 37 12 56214128 56214128 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 56214128 56214128 G A SNP ORMDL2 ENST00000243045 human ensembl 70_37 +1 known silent c.411 p.P137 0.765 pfam_ORMDL,pirsf_ORMDL pfam_ORMDL,pirsf_ORMDL - no_errors ORMDL2 HGNC OTUD5 55593 genome.wustl.edu 37 X 48792259 48792259 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 X 48792259 48792259 C T SNP OTUD5 ENST00000156084 human ensembl 70_37 -1 known missense c.721 p.E241K 1.000 pfam_OTU,pfscan_OTU pfam_OTU,pfscan_OTU - no_errors OTUD5 HGNC OTUD7A 161725 genome.wustl.edu 37 15 31851254 31851254 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 31851254 31851254 C T SNP OTUD7A ENST00000382902 human ensembl 70_37 -1 known silent c.468 p.L156 0.985 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7A HGNC PCBP1 5093 genome.wustl.edu 37 2 70314915 70314915 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 70314915 70314915 C G SNP PCBP1 ENST00000303577 human ensembl 70_37 +1 known missense c.40 p.L14V 1.000 smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP1 HGNC PCBP1 5093 genome.wustl.edu 37 2 70314924 70314924 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 70314924 70314924 C T SNP PCBP1 ENST00000303577 human ensembl 70_37 +1 known missense c.49 p.R17W 0.998 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP1 HGNC PCDHB15 56121 genome.wustl.edu 37 5 140626529 140626529 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 140626529 140626529 C T SNP PCDHB15 ENST00000231173 human ensembl 70_37 +1 known silent c.1383 p.R461 0.002 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB15 HGNC PDE7B 27115 genome.wustl.edu 37 6 136512915 136512915 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 136512915 136512915 G A SNP PDE7B ENST00000308191 human ensembl 70_37 +1 known silent c.1290 p.G430 0.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE7B HGNC PDLIM7 9260 genome.wustl.edu 37 5 176917897 176917897 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 176917897 176917897 C T SNP PDLIM7 ENST00000355841 human ensembl 70_37 -1 known silent c.546 p.P182 0.998 NULL pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM7 HGNC PEX2 5828 genome.wustl.edu 37 8 77912230 77912230 + RNA SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 77912230 77912230 G T SNP PEX2 ENST00000520203 human ensembl 70_37 -1 known rna NULL NULL 0.062 - - - no_errors PEX2 HGNC PEX5L 51555 genome.wustl.edu 37 3 179593166 179593166 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 179593166 179593166 C G SNP PEX5L ENST00000467460 human ensembl 70_37 -1 known missense c.605 p.R202T 1.000 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5L HGNC PFN4 375189 genome.wustl.edu 37 2 24338428 24338428 + RNA SNP T T G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 24338428 24338428 T G SNP PFN4 ENST00000465360 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PFN4 HGNC PHF21B 112885 genome.wustl.edu 37 22 45312345 45312345 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 45312345 45312345 C T SNP PHF21B ENST00000313237 human ensembl 70_37 -1 known missense c.379 p.G127S 0.961 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21B HGNC PHTF2 57157 genome.wustl.edu 37 7 77580942 77580942 + Silent SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 77580942 77580942 C G SNP PHTF2 ENST00000248550 human ensembl 70_37 +1 known silent c.2124 p.L708 1.000 NULL pfam_TF_homeodomain_male - no_errors PHTF2 HGNC PI4KB 5298 genome.wustl.edu 37 1 151288811 151288811 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 151288811 151288811 C T SNP PI4KB ENST00000271657 human ensembl 70_37 -1 known silent c.183 p.Q61 1.000 NULL pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KB HGNC PIK3C2G 5288 genome.wustl.edu 37 12 18658367 18658367 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 18658367 18658367 C T SNP PIK3C2G ENST00000538779 human ensembl 70_37 +1 known missense c.3295 p.H1099Y 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PIP4K2A 5305 genome.wustl.edu 37 10 22839628 22839628 + Missense_Mutation SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 10 22839628 22839628 T C SNP PIP4K2A ENST00000376573 human ensembl 70_37 -1 known missense c.752 p.N251S 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP4K2A HGNC PKHD1 5314 genome.wustl.edu 37 6 51907736 51907736 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 51907736 51907736 G A SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known silent c.3018 p.I1006 0.027 superfamily_Ig_E-set pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC PKHD1L1 93035 genome.wustl.edu 37 8 110460419 110460419 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 110460419 110460419 G C SNP PKHD1L1 ENST00000378402 human ensembl 70_37 +1 known missense c.5824 p.E1942Q 0.770 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC PKLR 5313 genome.wustl.edu 37 1 155265458 155265458 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 155265458 155265458 C T SNP PKLR ENST00000342741 human ensembl 70_37 -1 known missense c.373 p.E125K 0.997 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKLR HGNC PKP1 5317 genome.wustl.edu 37 1 201286771 201286771 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 201286771 201286771 C T SNP PKP1 ENST00000263946 human ensembl 70_37 +1 known silent c.918 p.A306 0.002 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP1 HGNC PLCD1 5333 genome.wustl.edu 37 3 38049577 38049577 + Nonsense_Mutation SNP C C A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 38049577 38049577 C A SNP PLCD1 ENST00000463876 human ensembl 70_37 -1 known nonsense c.2176 p.E726* 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD1 HGNC PLCXD1 55344 genome.wustl.edu 37 X 207451 207451 + RNA SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 X 207451 207451 C T SNP PLCXD1 ENST00000484611 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PLCXD1 HGNC PLCXD2 257068 genome.wustl.edu 37 3 111427075 111427075 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 111427075 111427075 G C SNP PLCXD2 ENST00000477665 human ensembl 70_37 +1 known missense c.466 p.E156Q 0.996 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom - no_errors PLCXD2 HGNC PLEKHH3 79990 genome.wustl.edu 37 17 40820270 40820270 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 40820270 40820270 C T SNP PLEKHH3 ENST00000591022 human ensembl 70_37 -1 known missense c.2257 p.E753K 0.992 pfscan_FERM_domain pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH3 HGNC POM121C 100101267 genome.wustl.edu 37 7 75048104 75048104 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 75048104 75048104 C T SNP POM121C ENST00000257665 human ensembl 70_37 -1 known missense c.3665 p.R1222Q 1.000 NULL NULL - no_errors POM121C HGNC POMZP3 22932 genome.wustl.edu 37 7 76239480 76239480 + RNA SNP C C A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 76239480 76239480 C A SNP POMZP3 ENST00000454656 human ensembl 70_37 -1 known rna NULL NULL 0.488 - - - no_errors POMZP3 HGNC POMZP3 22932 genome.wustl.edu 37 7 76239503 76239504 + RNA INS - - C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 76239503 76239504 - C INS POMZP3 ENST00000454656 human ensembl 70_37 -1 known rna NULL NULL 0.808:0.777 - - - no_errors POMZP3 HGNC POTEE 445582 genome.wustl.edu 37 2 131984449 131984449 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 131984449 131984449 G A SNP POTEE ENST00000356920 human ensembl 70_37 +1 known silent c.864 p.V288 0.340 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like - no_errors POTEE Uniprot_genename POTEF 728378 genome.wustl.edu 37 2 130877956 130877956 + Missense_Mutation SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 130877956 130877956 T C SNP POTEF ENST00000357462 human ensembl 70_37 -1 known missense c.133 p.T45A 0.022 NULL pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like - no_errors POTEF HGNC PPARG 5468 genome.wustl.edu 37 3 12421301 12421301 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 12421301 12421301 G C SNP PPARG ENST00000287820 human ensembl 70_37 +1 known missense c.181 p.D61H 1.000 prints_1Cnucl_rcpt_G pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_PPARgamma_N,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_1Cnucl_rcpt_G,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors PPARG HGNC PPEF2 5470 genome.wustl.edu 37 4 76794424 76794424 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 76794424 76794424 G A SNP PPEF2 ENST00000286719 human ensembl 70_37 -1 known silent c.1362 p.G454 1.000 pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_Metallo_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPEF2 HGNC PPIE 10450 genome.wustl.edu 37 1 40204803 40204805 + RNA DEL CTT CTT - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 40204803 40204805 CTT - DEL PPIE ENST00000480169 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors PPIE HGNC PPME1 51400 genome.wustl.edu 37 11 73915461 73915461 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 73915461 73915461 C T SNP PPME1 ENST00000328257 human ensembl 70_37 +1 known missense c.259 p.H87Y 1.000 pirsf_PPase_methylesterase_euk pirsf_PPase_methylesterase_euk - no_errors PPME1 HGNC PPME1 51400 genome.wustl.edu 37 11 73915487 73915487 + Missense_Mutation SNP C C A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 73915487 73915487 C A SNP PPME1 ENST00000328257 human ensembl 70_37 +1 known missense c.285 p.F95L 1.000 pirsf_PPase_methylesterase_euk pirsf_PPase_methylesterase_euk - no_errors PPME1 HGNC PPP1R12B 4660 genome.wustl.edu 37 1 202407189 202407190 + Frame_Shift_Ins INS - - T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 202407189 202407190 - T INS PPP1R12B ENST00000480184 human ensembl 70_37 +1 novel frame_shift_ins c.1495_1496 p.F503fs 0.085:0.041 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PPP1R12B HGNC PPP1R2P1 100507444 genome.wustl.edu 37 6 32847310 32847310 + RNA DEL C C - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 32847310 32847310 C - DEL PPP1R2P1 ENST00000420261 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors PPP1R2P1 HGNC PPP2R5C 5527 genome.wustl.edu 37 14 102368166 102368166 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 14 102368166 102368166 G A SNP PPP2R5C ENST00000422945 human ensembl 70_37 +1 known silent c.1056 p.V352 0.998 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5C HGNC PRCP 5547 genome.wustl.edu 37 11 82564294 82564294 + Missense_Mutation SNP T T G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 82564294 82564294 T G SNP PRCP ENST00000393399 human ensembl 70_37 -1 known missense c.399 p.E133D 1.000 pfam_Peptidase_S28 pfam_Peptidase_S28 - no_errors PRCP HGNC PRKDC 5591 genome.wustl.edu 37 8 48776016 48776016 + Silent SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 48776016 48776016 T C SNP PRKDC ENST00000314191 human ensembl 70_37 -1 known silent c.5691 p.Q1897 1.000 pfam_NUC194,superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,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 PRKDC HGNC PRKG1 5592 genome.wustl.edu 37 10 53667321 53667321 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 10 53667321 53667321 C T SNP PRKG1 ENST00000373980 human ensembl 70_37 +1 known silent c.753 p.V251 1.000 pirsf_cGMP-dependent_protein_kinase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_cGMP_dep_kinase,pfscan_cNMP-bd_dom pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom - no_errors PRKG1 HGNC PROB1 389333 genome.wustl.edu 37 5 138728722 138728722 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 138728722 138728722 G A SNP PROB1 ENST00000434752 human ensembl 70_37 -1 known silent c.2049 p.F683 0.244 NULL NULL - no_errors PROB1 HGNC PRPF3 9129 genome.wustl.edu 37 1 150305545 150305545 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 150305545 150305545 G C SNP PRPF3 ENST00000324862 human ensembl 70_37 +1 known missense c.603 p.E201D 0.992 NULL pfam_Pre-mRNA_splic_Prp3,pfam_DUF1115,pfam_PWI,superfamily_PWI,smart_PWI - no_errors PRPF3 HGNC PTH1R 5745 genome.wustl.edu 37 3 46945099 46945099 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 46945099 46945099 G C SNP PTH1R ENST00000313049 human ensembl 70_37 +1 known missense c.1735 p.E579Q 0.113 NULL pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt - no_errors PTH1R HGNC PTPDC1 138639 genome.wustl.edu 37 9 96857672 96857672 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 96857672 96857672 G A SNP PTPDC1 ENST00000375360 human ensembl 70_37 +1 known silent c.528 p.V176 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors PTPDC1 HGNC PTPRS 5802 genome.wustl.edu 37 19 5273571 5273571 + Silent SNP T T G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 5273571 5273571 T G SNP PTPRS ENST00000372412 human ensembl 70_37 -1 known silent c.261 p.A87 0.079 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like - no_errors PTPRS HGNC PWP1 11137 genome.wustl.edu 37 12 108082489 108082489 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 108082489 108082489 G A SNP PWP1 ENST00000412830 human ensembl 70_37 +1 known missense c.229 p.E77K 0.002 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP1 HGNC PYGB 5834 genome.wustl.edu 37 20 25228957 25228957 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 20 25228957 25228957 C T SNP PYGB ENST00000216962 human ensembl 70_37 +1 known missense c.143 p.T48M 1.000 pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC RABGGTB 5876 genome.wustl.edu 37 1 76253045 76253046 + RNA INS - - A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 76253045 76253046 - A INS RABGGTB ENST00000471759 human ensembl 70_37 +1 known rna NULL NULL 0.003:0.002 - - - no_errors RABGGTB HGNC RANBP3 8498 genome.wustl.edu 37 19 5925689 5925689 + Missense_Mutation SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 5925689 5925689 G T SNP RANBP3 ENST00000340578 human ensembl 70_37 -1 known missense c.873 p.D291E 0.656 NULL pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3 HGNC RECQL4 9401 genome.wustl.edu 37 8 145742524 145742524 + RNA SNP C C A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 145742524 145742524 C A SNP RECQL4 ENST00000428558 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RECQL4 HGNC REEP5 7905 genome.wustl.edu 37 5 112257809 112257809 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 112257809 112257809 C T SNP REEP5 ENST00000379638 human ensembl 70_37 -1 known missense c.79 p.E27K 1.000 NULL pfam_TB2_DP1_HVA22 - no_errors REEP5 HGNC RGAG1 57529 genome.wustl.edu 37 X 109696520 109696520 + Missense_Mutation SNP C C A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 X 109696520 109696520 C A SNP RGAG1 ENST00000465301 human ensembl 70_37 +1 known missense c.2675 p.P892Q 0.053 NULL NULL - no_errors RGAG1 HGNC RGPD8 727851 genome.wustl.edu 37 2 113145814 113145814 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 113145814 113145814 C T SNP RGPD8 ENST00000302558 human ensembl 70_37 -1 known missense c.4708 p.G1570R 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD8 HGNC RHOU 58480 genome.wustl.edu 37 1 228871693 228871693 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 228871693 228871693 C T SNP RHOU ENST00000366691 human ensembl 70_37 +1 known silent c.204 p.S68 1.000 pfam_Small_GTPase,pfam_MIRO-like,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,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 RHOU HGNC RNASEH2C 84153 genome.wustl.edu 37 11 65487294 65487294 + Silent SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 65487294 65487294 C G SNP RNASEH2C ENST00000527610 human ensembl 70_37 -1 putative silent c.690 p.A230 0.082 NULL pfam_RNase_H2_suC - no_errors RNASEH2C HGNC RNF31 55072 genome.wustl.edu 37 14 24626844 24626844 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 14 24626844 24626844 G C SNP RNF31 ENST00000324103 human ensembl 70_37 +1 known missense c.2724 p.K908N 1.000 smart_Znf_C6HC pfam_PUB_domain,pfam_Znf_C6HC,superfamily_UBA-like,superfamily_DEATH-like,superfamily_Znf_FYVE_PHD,smart_Znf_RanBP2,smart_Znf_C6HC,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RanBP2 - no_errors RNF31 HGNC SBSPON 157869 genome.wustl.edu 37 8 73982179 73982179 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 73982179 73982179 G A SNP SBSPON ENST00000297354 human ensembl 70_37 -1 known missense c.538 p.H180Y 0.856 NULL superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Somatomedin_B_dom,pfscan_Thrombospondin_1_rpt - no_errors SBSPON HGNC SCN11A 11280 genome.wustl.edu 37 3 38938634 38938634 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 38938634 38938634 C T SNP SCN11A ENST00000302328 human ensembl 70_37 -1 known missense c.2105 p.G702E 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC SEMA4B 10509 genome.wustl.edu 37 15 90768237 90768237 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 90768237 90768237 C T SNP SEMA4B ENST00000332496 human ensembl 70_37 +1 known missense c.1232 p.S411L 0.997 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA4B HGNC SFMBT1 51460 genome.wustl.edu 37 3 52941132 52941132 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 52941132 52941132 G A SNP SFMBT1 ENST00000358080 human ensembl 70_37 -1 known missense c.2284 p.R762C 0.976 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT1 HGNC SFMBT1 51460 genome.wustl.edu 37 3 52941608 52941608 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 52941608 52941608 G A SNP SFMBT1 ENST00000358080 human ensembl 70_37 -1 known missense c.2048 p.S683F 1.000 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT1 HGNC SH3TC2 79628 genome.wustl.edu 37 5 148386525 148386525 + Silent SNP T T G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 148386525 148386525 T G SNP SH3TC2 ENST00000515425 human ensembl 70_37 -1 known silent c.3594 p.P1198 0.142 smart_TPR_repeat pfam_SH3_domain,pfam_TPR-1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC2 HGNC SIL1 64374 genome.wustl.edu 37 5 138463538 138463538 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 138463538 138463538 G C SNP SIL1 ENST00000509534 human ensembl 70_37 -1 putative missense c.19 p.L7V 0.001 NULL superfamily_ARM-type_fold - no_errors SIL1 HGNC SLC12A2 6558 genome.wustl.edu 37 5 127469859 127469859 + Silent SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 127469859 127469859 A G SNP SLC12A2 ENST00000262461 human ensembl 70_37 +1 known silent c.1191 p.E397 0.995 pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A2 HGNC SLC22A1 6580 genome.wustl.edu 37 6 160560881 160560883 + In_Frame_Del DEL ATG ATG - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 ATG ATG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 160560881 160560883 ATG - DEL SLC22A1 ENST00000366963 human ensembl 70_37 +1 known in_frame_del c.1258_1260 p.M420in_frame_del 0.394:0.028:0.014 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A1 HGNC SLC22A31 146429 genome.wustl.edu 37 16 89265101 89265101 + RNA SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 89265101 89265101 C T SNP SLC22A31 ENST00000562855 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors SLC22A31 HGNC SLC24A4 123041 genome.wustl.edu 37 14 92923626 92923626 + RNA SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 14 92923626 92923626 A G SNP SLC24A4 ENST00000556739 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC24A4 HGNC SLC25A41 284427 genome.wustl.edu 37 19 6433695 6433695 + Nonsense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 6433695 6433695 G A SNP SLC25A41 ENST00000321510 human ensembl 70_37 -1 known nonsense c.10 p.Q4* 0.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A41 HGNC SLC25A6 293 genome.wustl.edu 37 X 1508324 1508324 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 X 1508324 1508324 G A SNP SLC25A6 ENST00000381401 human ensembl 70_37 -1 known silent c.408 p.F136 0.997 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling - no_errors SLC25A6 HGNC SLC34A2 10568 genome.wustl.edu 37 4 25677909 25677909 + Missense_Mutation SNP C C A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 25677909 25677909 C A SNP SLC34A2 ENST00000382051 human ensembl 70_37 +1 known missense c.1611 p.F537L 1.000 tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt - no_errors SLC34A2 HGNC SLC6A2 6530 genome.wustl.edu 37 16 55734174 55734174 + Missense_Mutation SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 55734174 55734174 T C SNP SLC6A2 ENST00000219833 human ensembl 70_37 +1 known missense c.1714 p.Y572H 0.823 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline - no_errors SLC6A2 HGNC SLCO1B3 28234 genome.wustl.edu 37 12 21229400 21229400 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 21229400 21229400 C T SNP SLCO1B3 ENST00000553473 human ensembl 70_37 +1 known missense c.1945 p.P649S 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC SMARCA4 6597 genome.wustl.edu 37 19 11172893 11172893 + RNA SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 11172893 11172893 G A SNP SMARCA4 ENST00000586921 human ensembl 70_37 +1 known rna NULL NULL 0.018 - - - no_errors SMARCA4 HGNC SMG1 23049 genome.wustl.edu 37 16 18881990 18881990 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 18881990 18881990 G A SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known missense c.2434 p.R812C 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_FATC,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 SMG1 HGNC SMG1 23049 genome.wustl.edu 37 16 18902217 18902217 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 18902217 18902217 G C SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known missense c.576 p.I192M 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_FATC,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 SMG1 HGNC SMPD1 6609 genome.wustl.edu 37 11 6411941 6411941 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 6411941 6411941 C T SNP SMPD1 ENST00000342245 human ensembl 70_37 +1 known missense c.113 p.A38V 0.351 pirsf_Sphingomy_PDE pfam_Metallo_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB - no_errors SMPD1 HGNC SNF8 11267 genome.wustl.edu 37 17 47007747 47007747 + RNA SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 47007747 47007747 T C SNP SNF8 ENST00000514089 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SNF8 HGNC SNHG12 85028 genome.wustl.edu 37 1 28907222 28907222 + RNA SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 28907222 28907222 G A SNP SNHG12 ENST00000464612 human ensembl 70_37 -1 known rna NULL NULL 0.156 - - - no_errors SNHG12 HGNC SNRNP70 6625 genome.wustl.edu 37 19 49610936 49610936 + Nonsense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 49610936 49610936 C G SNP SNRNP70 ENST00000598441 human ensembl 70_37 +1 known nonsense c.632 p.S211* 1.000 NULL pfam_U1snRNP70_N,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SNRNP70 HGNC SOX6 55553 genome.wustl.edu 37 11 16036581 16036581 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 16036581 16036581 C G SNP SOX6 ENST00000352083 human ensembl 70_37 -1 known missense c.1639 p.E547Q 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX6 HGNC SPATA31A3 727830 genome.wustl.edu 37 9 40702760 40702760 + Missense_Mutation SNP T T G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 40702760 40702760 T G SNP SPATA31A3 ENST00000356699 human ensembl 70_37 +1 known missense c.417 p.H139Q 0.000 NULL NULL - no_errors SPATA31A3 HGNC SPATS2 65244 genome.wustl.edu 37 12 49919880 49919880 + Nonsense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 49919880 49919880 C T SNP SPATS2 ENST00000321898 human ensembl 70_37 +1 known nonsense c.1480 p.Q494* 0.886 NULL pfam_DUF1387,superfamily_UBA-like - no_errors SPATS2 HGNC SPEF1 25876 genome.wustl.edu 37 20 3759528 3759528 + RNA SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 20 3759528 3759528 C T SNP SPEF1 ENST00000463490 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors SPEF1 HGNC SPG20 23111 genome.wustl.edu 37 13 36909405 36909405 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 13 36909405 36909405 C T SNP SPG20 ENST00000355182 human ensembl 70_37 -1 known missense c.563 p.G188E 1.000 NULL pfam_Senescence/spartin,pfam_MIT,smart_MIT - no_errors SPG20 HGNC SPNS3 201305 genome.wustl.edu 37 17 4389826 4389826 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 4389826 4389826 G A SNP SPNS3 ENST00000355530 human ensembl 70_37 +1 known silent c.1398 p.L466 0.836 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS3 HGNC SPTB 6710 genome.wustl.edu 37 14 65216120 65216120 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 14 65216120 65216120 C T SNP SPTB ENST00000389722 human ensembl 70_37 -1 known silent c.6891 p.A2297 0.288 pirsf_Spectrin_bsu pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC SPTBN2 6712 genome.wustl.edu 37 11 66478212 66478212 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 66478212 66478212 C T SNP SPTBN2 ENST00000309996 human ensembl 70_37 -1 known missense c.914 p.R305H 1.000 pirsf_Spectrin_bsu pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC SRC 6714 genome.wustl.edu 37 20 36032761 36032761 + RNA SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 20 36032761 36032761 G T SNP SRC ENST00000477066 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SRC HGNC SRCRB4D 136853 genome.wustl.edu 37 7 76033741 76033741 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 7 76033741 76033741 C T SNP SRCRB4D ENST00000275560 human ensembl 70_37 -1 known missense c.16 p.E6K 0.915 NULL pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors SRCRB4D HGNC SRGAP1 57522 genome.wustl.edu 37 12 64491142 64491142 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 64491142 64491142 G A SNP SRGAP1 ENST00000355086 human ensembl 70_37 +1 known silent c.1800 p.L600 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC SRRM5 100170229 genome.wustl.edu 37 19 44117582 44117582 + Missense_Mutation SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 44117582 44117582 T C SNP SRRM5 ENST00000526798 human ensembl 70_37 +1 known missense c.1354 p.C452R 0.000 NULL NULL - no_errors SRRM5 HGNC STAMBPL1 57559 genome.wustl.edu 37 10 90733048 90733048 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 10 90733048 90733048 C T SNP STAMBPL1 ENST00000371927 human ensembl 70_37 +1 known missense c.1364 p.S455L 0.019 NULL pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors STAMBPL1 HGNC STIL 6491 genome.wustl.edu 37 1 47765776 47765776 + Missense_Mutation SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 47765776 47765776 G T SNP STIL ENST00000371877 human ensembl 70_37 -1 known missense c.502 p.L168M 1.000 NULL NULL - no_errors STIL HGNC STK11 6794 genome.wustl.edu 37 19 1220433 1220433 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 1220433 1220433 G A SNP STK11 ENST00000326873 human ensembl 70_37 +1 known missense c.526 p.D176N 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK11 HGNC STK32B 55351 genome.wustl.edu 37 4 5500722 5500722 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 5500722 5500722 G A SNP STK32B ENST00000282908 human ensembl 70_37 +1 known missense c.1157 p.R386Q 0.033 NULL 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 STK32B HGNC SUCO 51430 genome.wustl.edu 37 1 172571295 172571295 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 172571295 172571295 C G SNP SUCO ENST00000367723 human ensembl 70_37 +1 known missense c.3566 p.S1189C 1.000 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC SULT1A2 6799 genome.wustl.edu 37 16 28606917 28606917 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 28606917 28606917 G A SNP SULT1A2 ENST00000335715 human ensembl 70_37 -1 known silent c.228 p.F76 0.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT1A2 HGNC SUMO3 6612 genome.wustl.edu 37 21 46226929 46226929 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 21 46226929 46226929 G A SNP SUMO3 ENST00000397898 human ensembl 70_37 -1 novel missense c.299 p.S100L 0.253 NULL pfam_SUMO,pfam_Ubiquitin,smart_Ubiquitin - no_errors SUMO3 HGNC SYNE2 23224 genome.wustl.edu 37 14 64469664 64469664 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 14 64469664 64469664 C T SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.4013 p.S1338F 0.178 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC SYNE2 23224 genome.wustl.edu 37 14 64473854 64473854 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 14 64473854 64473854 C G SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.4491 p.F1497L 0.257 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC SYNM 23336 genome.wustl.edu 37 15 99670265 99670265 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 99670265 99670265 C T SNP SYNM ENST00000336292 human ensembl 70_37 +1 known missense c.1697 p.P566L 0.000 NULL pfam_F - no_errors SYNM HGNC SYNM 23336 genome.wustl.edu 37 15 99671795 99671795 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 99671795 99671795 C T SNP SYNM ENST00000336292 human ensembl 70_37 +1 known missense c.3227 p.S1076L 0.003 NULL pfam_F - no_errors SYNM HGNC SYT11 23208 genome.wustl.edu 37 1 155838304 155838304 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 155838304 155838304 G C SNP SYT11 ENST00000368324 human ensembl 70_37 +1 known missense c.583 p.D195H 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin - no_errors SYT11 HGNC TAF10 6881 genome.wustl.edu 37 11 6632183 6632183 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 6632183 6632183 G C SNP TAF10 ENST00000299424 human ensembl 70_37 -1 known missense c.627 p.I209M 1.000 pirsf_TFIID_30kDa,prints_TFIID_30kDa pfam_TFIID_30kDa,pirsf_TFIID_30kDa,prints_TFIID_30kDa - no_errors TAF10 HGNC TBC1D10B 26000 genome.wustl.edu 37 16 30369438 30369438 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 30369438 30369438 C G SNP TBC1D10B ENST00000409939 human ensembl 70_37 -1 known missense c.2254 p.E752Q 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10B HGNC TBC1D16 125058 genome.wustl.edu 37 17 77984012 77984012 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 77984012 77984012 G A SNP TBC1D16 ENST00000310924 human ensembl 70_37 -1 known silent c.726 p.I242 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D16 HGNC TBC1D3P1-DHX40P1 653645 genome.wustl.edu 37 17 58085852 58085852 + RNA SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 58085852 58085852 T C SNP TBC1D3P1-DHX40P1 ENST00000407042 human ensembl 70_37 -1 known rna NULL NULL 0.130 - - - no_errors TBC1D3P1-DHX40P1 HGNC TCERG1 10915 genome.wustl.edu 37 5 145843128 145843128 + Missense_Mutation SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 145843128 145843128 G T SNP TCERG1 ENST00000296702 human ensembl 70_37 +1 known missense c.907 p.D303Y 1.000 NULL pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP - no_errors TCERG1 HGNC TDRG1 732253 genome.wustl.edu 37 6 40347108 40347109 + RNA INS - - T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 40347108 40347109 - T INS TDRG1 ENST00000373170 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors TDRG1 HGNC TEF 7008 genome.wustl.edu 37 22 41783471 41783471 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 41783471 41783471 G A SNP TEF ENST00000266304 human ensembl 70_37 +1 known missense c.274 p.E92K 1.000 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors TEF HGNC TFB2M 64216 genome.wustl.edu 37 1 246729346 246729346 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 246729346 246729346 G C SNP TFB2M ENST00000366514 human ensembl 70_37 -1 known missense c.95 p.T32R 0.000 pirsf_Mt_di-Me-Ado_Trfase_2_prcur pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,pirsf_Mt_di-Me-Ado_Trfase_2_prcur - no_errors TFB2M HGNC THSD7B 80731 genome.wustl.edu 37 2 137852605 137852605 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 137852605 137852605 G A SNP THSD7B ENST00000272643 human ensembl 70_37 +1 known missense c.1113 p.M371I 0.427 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC TIGD6 81789 genome.wustl.edu 37 5 149374880 149374880 + Frame_Shift_Del DEL T T - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 149374880 149374880 T - DEL TIGD6 ENST00000296736 human ensembl 70_37 -1 known frame_shift_del c.1032 p.E345fs 0.000 pfam_DDE_SF_endonuclease_CENPB-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD6 HGNC TJP1 7082 genome.wustl.edu 37 15 30018627 30018627 + Missense_Mutation SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 30018627 30018627 T C SNP TJP1 ENST00000346128 human ensembl 70_37 -1 known missense c.2368 p.I790V 0.976 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin pfam_PDZ,pfam_ZU5,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC TLR7 51284 genome.wustl.edu 37 X 12903659 12903659 + Missense_Mutation SNP A A T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 X 12903659 12903659 A T SNP TLR7 ENST00000380659 human ensembl 70_37 +1 known missense c.32 p.Q11L 0.000 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR7 HGNC TLX3 30012 genome.wustl.edu 37 5 170737337 170737337 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 170737337 170737337 C T SNP TLX3 ENST00000296921 human ensembl 70_37 +1 known missense c.605 p.S202F 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors TLX3 HGNC TMED11P 100379220 genome.wustl.edu 37 4 1109039 1109039 + RNA SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 1109039 1109039 G A SNP TMED11P ENST00000502630 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TMED11P HGNC TMEM150B 284417 genome.wustl.edu 37 19 55824298 55824298 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 55824298 55824298 G A SNP TMEM150B ENST00000326652 human ensembl 70_37 -1 known silent c.631 p.L211 0.992 NULL pfam_Frag1/DRAM/Sfk1 - no_errors TMEM150B HGNC TMEM165 55858 genome.wustl.edu 37 4 56291621 56291622 + RNA DEL AA AA - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 56291621 56291622 AA - DEL TMEM165 ENST00000508561 human ensembl 70_37 +1 known rna NULL NULL 0.010:0.001 - - - no_errors TMEM165 HGNC TMEM2 23670 genome.wustl.edu 37 9 74360096 74360096 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 74360096 74360096 C T SNP TMEM2 ENST00000377044 human ensembl 70_37 -1 known missense c.872 p.R291H 0.995 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors TMEM2 HGNC TMEM87B 84910 genome.wustl.edu 37 2 112832536 112832538 + In_Frame_Del DEL AAT AAT - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 AAT AAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 112832536 112832538 AAT - DEL TMEM87B ENST00000283206 human ensembl 70_37 +1 known in_frame_del c.498_500 p.M167in_frame_del 0.197:0.117:0.110 NULL pfam_TM_rcpt_euk - no_errors TMEM87B HGNC TMPRSS13 84000 genome.wustl.edu 37 11 117789272 117789272 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 117789272 117789272 G A SNP TMPRSS13 ENST00000445164 human ensembl 70_37 -1 known silent c.303 p.S101 0.000 pirsf_Peptidase_S1A_TMPRSS13 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_TMPRSS13,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS13 HGNC TMPRSS9 360200 genome.wustl.edu 37 19 2425109 2425109 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 2425109 2425109 C T SNP TMPRSS9 ENST00000332578 human ensembl 70_37 +1 known missense c.2725 p.L909F 0.998 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6 - no_errors TMPRSS9 HGNC TNXB 7148 genome.wustl.edu 37 6 32012817 32012817 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 32012817 32012817 C T SNP TNXB ENST00000375247 human ensembl 70_37 -1 known silent c.10887 p.K3629 0.882 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC TPM2 7169 genome.wustl.edu 37 9 35683240 35683241 + Splice_Site INS - - G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 35683240 35683241 - G INS TPM2 ENST00000360958 human ensembl 70_37 -1 known splice_site_ins c.773-3_773-2 e9-2 1.000:1.000 - - - no_errors TPM2 HGNC TPTEP1 387590 genome.wustl.edu 37 22 17082969 17082969 + RNA SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 17082969 17082969 G A SNP TPTEP1 ENST00000400593 human ensembl 70_37 +1 known rna NULL NULL 0.994 - - - no_errors TPTEP1 HGNC TRAP1 10131 genome.wustl.edu 37 16 3722736 3722736 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 3722736 3722736 G A SNP TRAP1 ENST00000246957 human ensembl 70_37 -1 known missense c.1130 p.T377M 0.276 pfam_Hsp90,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90 pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pirsf_Hsp90,prints_Hsp90_N - no_errors TRAP1 HGNC TRIM36 55521 genome.wustl.edu 37 5 114462253 114462253 + Nonsense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 114462253 114462253 G A SNP TRIM36 ENST00000282369 human ensembl 70_37 -1 known nonsense c.2134 p.Q712* 0.998 pfscan_B30.2/SPRY pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM36 HGNC TRIOBP 11078 genome.wustl.edu 37 22 38167740 38167740 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 38167740 38167740 G A SNP TRIOBP ENST00000406386 human ensembl 70_37 +1 known silent c.6933 p.Q2311 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC TRMT10C 54931 genome.wustl.edu 37 3 101284448 101284448 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 101284448 101284448 G A SNP TRMT10C ENST00000309922 human ensembl 70_37 +1 known missense c.823 p.E275K 1.000 pfam_tRNA_m1G_MeTrfase pfam_tRNA_m1G_MeTrfase - no_errors TRMT10C HGNC TRPM2 7226 genome.wustl.edu 37 21 45811190 45811190 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 21 45811190 45811190 C T SNP TRPM2 ENST00000300482 human ensembl 70_37 +1 known silent c.1476 p.L492 1.000 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC TRPM3 80036 genome.wustl.edu 37 9 73458045 73458046 + Splice_Site INS - - A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 73458045 73458046 - A INS TRPM3 ENST00000423814 human ensembl 70_37 -1 known splice_site_ins c.683-3_683-2 e5-2 0.995:0.010 - - - no_errors TRPM3 HGNC TRPV1 7442 genome.wustl.edu 37 17 3477080 3477080 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 3477080 3477080 G A SNP TRPV1 ENST00000399756 human ensembl 70_37 -1 known silent c.1950 p.F650 1.000 prints_TRPV1-4_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV1 HGNC TSNARE1 203062 genome.wustl.edu 37 8 143425329 143425329 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 143425329 143425329 C G SNP TSNARE1 ENST00000307180 human ensembl 70_37 -1 known missense c.743 p.R248T 0.907 NULL pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors TSNARE1 HGNC TTLL10-AS1 100506376 genome.wustl.edu 37 1 1111633 1111633 + RNA SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 1111633 1111633 A G SNP TTLL10-AS1 ENST00000379317 human ensembl 70_37 -1 known rna NULL NULL 0.979 - - - no_errors TTLL10-AS1 HGNC TTLL8 164714 genome.wustl.edu 37 22 50472866 50472866 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 22 50472866 50472866 G A SNP TTLL8 ENST00000266182 human ensembl 70_37 -1 known missense c.947 p.T316M 0.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL8 HGNC TTN 7273 genome.wustl.edu 37 2 179484535 179484535 + Silent SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 179484535 179484535 G C SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.38805 p.L12935 0.999 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TUBB2A 7280 genome.wustl.edu 37 6 3154871 3154871 + Silent SNP A A C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 3154871 3154871 A C SNP TUBB2A ENST00000333628 human ensembl 70_37 -1 known silent c.564 p.S188 0.003 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB2A HGNC TUBG2 27175 genome.wustl.edu 37 17 40818755 40818755 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 40818755 40818755 C T SNP TUBG2 ENST00000251412 human ensembl 70_37 +1 known silent c.1293 p.L431 1.000 superfamily_Tub_FtsZ_C,prints_Gamma_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin - no_errors TUBG2 HGNC TULP4 56995 genome.wustl.edu 37 6 158870081 158870081 + Silent SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 158870081 158870081 A G SNP TULP4 ENST00000367097 human ensembl 70_37 +1 known silent c.597 p.R199 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC TXNIP 10628 genome.wustl.edu 37 1 145441217 145441217 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 145441217 145441217 G A SNP TXNIP ENST00000369317 human ensembl 70_37 +1 known silent c.1175 p.*392 0.999 NULL pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors TXNIP HGNC TXNL4A 10907 genome.wustl.edu 37 18 77737623 77737623 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 18 77737623 77737623 G A SNP TXNL4A ENST00000269601 human ensembl 70_37 -1 known missense c.232 p.P78S 1.000 pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5 pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5 - no_errors TXNL4A HGNC TYR 7299 genome.wustl.edu 37 11 89017961 89017961 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 89017961 89017961 G A SNP TYR ENST00000263321 human ensembl 70_37 +1 known missense c.1205 p.R402Q 1.000 pfam_Tyrosinase,superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC UBA6 55236 genome.wustl.edu 37 4 68511735 68511735 + Splice_Site SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 68511735 68511735 C G SNP UBA6 ENST00000322244 human ensembl 70_37 -1 known splice_site c.1317-1 e16-1 1.000 - - - no_errors UBA6 HGNC UBC 7316 genome.wustl.edu 37 12 125397061 125397061 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 12 125397061 125397061 G A SNP UBC ENST00000339647 human ensembl 70_37 -1 known silent c.1257 p.D419 1.000 pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors UBC HGNC UBR3 130507 genome.wustl.edu 37 2 170728794 170728794 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 170728794 170728794 C T SNP UBR3 ENST00000272793 human ensembl 70_37 +1 known silent c.594 p.V198 0.996 NULL pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR3 HGNC UBR4 23352 genome.wustl.edu 37 1 19408294 19408295 + Frame_Shift_Ins INS - - C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 19408294 19408295 - C INS UBR4 ENST00000375225 human ensembl 70_37 -1 known frame_shift_ins c.7_6 p.P2fs 0.000:0.000 NULL NULL - no_errors UBR4 HGNC UBR4 23352 genome.wustl.edu 37 1 19513763 19513763 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 19513763 19513763 C G SNP UBR4 ENST00000375267 human ensembl 70_37 -1 known missense c.1527 p.L509F 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC UHRF2 115426 genome.wustl.edu 37 9 6499822 6499822 + RNA DEL C C - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 9 6499822 6499822 C - DEL UHRF2 ENST00000492853 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors UHRF2 HGNC ULK4P2 100288380 genome.wustl.edu 37 15 30888946 30888946 + RNA SNP T T A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 30888946 30888946 T A SNP ULK4P2 ENST00000566793 human ensembl 70_37 +1 putative rna NULL NULL 0.164 - - - no_errors ULK4P2 HGNC UNC79 57578 genome.wustl.edu 37 14 94079237 94079237 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 14 94079237 94079237 G A SNP UNC79 ENST00000553484 human ensembl 70_37 +1 known silent c.3915 p.V1305 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors UNC79 HGNC USP10 9100 genome.wustl.edu 37 16 84808824 84808824 + Silent SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 84808824 84808824 C G SNP USP10 ENST00000570191 human ensembl 70_37 +1 known silent c.2214 p.L738 0.820 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Ataxin-2_C,pfscan_Peptidase_C19 - no_errors USP10 HGNC USP17L2 377630 genome.wustl.edu 37 8 11995785 11995785 + Missense_Mutation SNP T T A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 11995785 11995785 T A SNP USP17L2 ENST00000333796 human ensembl 70_37 -1 known missense c.485 p.H162L 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19 - no_errors USP17L2 HGNC USP9X 8239 genome.wustl.edu 37 X 41029361 41029361 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 X 41029361 41029361 G A SNP USP9X ENST00000324545 human ensembl 70_37 +1 known missense c.2750 p.R917Q 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC UVSSA 57654 genome.wustl.edu 37 4 1377703 1377703 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 4 1377703 1377703 C T SNP UVSSA ENST00000389851 human ensembl 70_37 +1 known missense c.2011 p.R671C 0.778 NULL pfam_DUF2043,superfamily_ENTH_VHS - no_errors UVSSA HGNC VCAN 1462 genome.wustl.edu 37 5 82837569 82837569 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 5 82837569 82837569 C T SNP VCAN ENST00000265077 human ensembl 70_37 +1 known missense c.8747 p.S2916F 0.162 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC VNN3 55350 genome.wustl.edu 37 6 133044194 133044194 + Splice_Site SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 6 133044194 133044194 C T SNP VNN3 ENST00000207771 human ensembl 70_37 -1 known splice_site c.1375-1 e8-1 0.967 - - - no_errors VNN3 HGNC VPS13B 157680 genome.wustl.edu 37 8 100833669 100833669 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 100833669 100833669 G A SNP VPS13B ENST00000358544 human ensembl 70_37 +1 known missense c.9217 p.D3073N 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC VPS18 57617 genome.wustl.edu 37 15 41191573 41191573 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 41191573 41191573 C T SNP VPS18 ENST00000220509 human ensembl 70_37 +1 known missense c.557 p.P186L 1.000 NULL pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold - no_errors VPS18 HGNC VWCE 220001 genome.wustl.edu 37 11 61034994 61034994 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 61034994 61034994 G A SNP VWCE ENST00000335613 human ensembl 70_37 -1 known silent c.1905 p.I635 1.000 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_VWF_C,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C - no_errors VWCE HGNC WDR73 84942 genome.wustl.edu 37 15 85186837 85186837 + Missense_Mutation SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 85186837 85186837 T C SNP WDR73 ENST00000434634 human ensembl 70_37 -1 known missense c.1001 p.D334G 0.042 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR73 HGNC WHAMMP3 339005 genome.wustl.edu 37 15 23201566 23201566 + RNA SNP C C A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 15 23201566 23201566 C A SNP WHAMMP3 ENST00000400153 human ensembl 70_37 -1 known rna NULL NULL 0.678 - - - no_errors WHAMMP3 HGNC WIZ 58525 genome.wustl.edu 37 19 15549635 15549635 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 15549635 15549635 C T SNP WIZ ENST00000389282 human ensembl 70_37 -1 known missense c.2026 p.A676T 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC WWOX 51741 genome.wustl.edu 37 16 78420775 78420775 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 78420775 78420775 G A SNP WWOX ENST00000566780 human ensembl 70_37 +1 known missense c.535 p.A179T 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_WW_Rsp5_WWP,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP,prints_Glc/ribitol_DH - no_errors WWOX HGNC XIRP2 129446 genome.wustl.edu 37 2 168102429 168102429 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 168102429 168102429 C T SNP XIRP2 ENST00000295237 human ensembl 70_37 +1 known silent c.4527 p.I1509 0.003 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC XPO4 64328 genome.wustl.edu 37 13 21358048 21358048 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 13 21358048 21358048 G A SNP XPO4 ENST00000255305 human ensembl 70_37 -1 known missense c.3269 p.S1090F 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors XPO4 HGNC XRRA1 143570 genome.wustl.edu 37 11 74651899 74651899 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 11 74651899 74651899 G A SNP XRRA1 ENST00000340360 human ensembl 70_37 -1 known silent c.25 p.L9 0.963 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC YTHDF3 253943 genome.wustl.edu 37 8 64122594 64122594 + RNA DEL A A - TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 64122594 64122594 A - DEL YTHDF3 ENST00000339066 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors YTHDF3 HGNC ZAK 51776 genome.wustl.edu 37 2 174055646 174055646 + Silent SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 174055646 174055646 T C SNP ZAK ENST00000375213 human ensembl 70_37 +1 known silent c.439 p.L147 0.727 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLTK Uniprot_genename ZBBX 79740 genome.wustl.edu 37 3 166958669 166958669 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 3 166958669 166958669 G A SNP ZBBX ENST00000307529 human ensembl 70_37 -1 known missense c.2432 p.S811L 1.000 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ZFHX3 463 genome.wustl.edu 37 16 72992896 72992896 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 72992896 72992896 G A SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known silent c.1149 p.S383 0.690 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ZFP36L2 678 genome.wustl.edu 37 2 43452373 43452373 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 43452373 43452373 C T SNP ZFP36L2 ENST00000282388 human ensembl 70_37 -1 known silent c.570 p.P190 0.977 NULL pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L2 HGNC ZFP36L2 678 genome.wustl.edu 37 2 43452886 43452886 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 43452886 43452886 C G SNP ZFP36L2 ENST00000282388 human ensembl 70_37 -1 known missense c.57 p.E19D 1.000 pfam_Tis11B_N pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L2 HGNC ZHX2 22882 genome.wustl.edu 37 8 123966102 123966102 + Silent SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 8 123966102 123966102 G A SNP ZHX2 ENST00000314393 human ensembl 70_37 +1 known silent c.2352 p.E784 0.967 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZHX2 HGNC ZNF100 163227 genome.wustl.edu 37 19 21910630 21910630 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 21910630 21910630 C T SNP ZNF100 ENST00000358296 human ensembl 70_37 -1 known missense c.484 p.D162N 0.001 NULL 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 ZNF100 HGNC ZNF155 7711 genome.wustl.edu 37 19 44500677 44500677 + Missense_Mutation SNP A A T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 44500677 44500677 A T SNP ZNF155 ENST00000270014 human ensembl 70_37 +1 known missense c.668 p.Q223L 0.947 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF155 HGNC ZNF207 7756 genome.wustl.edu 37 17 30692393 30692393 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 30692393 30692393 C G SNP ZNF207 ENST00000394670 human ensembl 70_37 +1 known missense c.715 p.Q239E 1.000 NULL smart_Znf_C2H2-like - no_errors ZNF207 HGNC ZNF295-AS1 150142 genome.wustl.edu 37 21 43444588 43444588 + RNA SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 21 43444588 43444588 C T SNP ZNF295-AS1 ENST00000412906 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF295-AS1 HGNC ZNF337 26152 genome.wustl.edu 37 20 25656944 25656944 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 20 25656944 25656944 C T SNP ZNF337 ENST00000252979 human ensembl 70_37 -1 known missense c.980 p.R327Q 0.724 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 ZNF337 HGNC ZNF512B 57473 genome.wustl.edu 37 20 62598315 62598315 + Missense_Mutation SNP A A G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 20 62598315 62598315 A G SNP ZNF512B ENST00000217130 human ensembl 70_37 -1 known missense c.307 p.S103P 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512B HGNC ZNF513 130557 genome.wustl.edu 37 2 27600419 27600419 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 2 27600419 27600419 G A SNP ZNF513 ENST00000323703 human ensembl 70_37 -1 known missense c.1619 p.S540L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF513 HGNC ZNF561 93134 genome.wustl.edu 37 19 9730240 9730240 + RNA SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 9730240 9730240 T C SNP ZNF561 ENST00000465974 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors ZNF561 HGNC ZNF578 147660 genome.wustl.edu 37 19 53014505 53014505 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 53014505 53014505 G A SNP ZNF578 ENST00000421239 human ensembl 70_37 +1 known missense c.871 p.E291K 0.002 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 ZNF578 HGNC ZNF587B 100293516 genome.wustl.edu 37 19 58352729 58352729 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 58352729 58352729 C T SNP ZNF587B ENST00000442832 human ensembl 70_37 +1 known silent c.687 p.L229 0.000 NULL 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 ZNF587B HGNC ZNF646 9726 genome.wustl.edu 37 16 31088999 31088999 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 31088999 31088999 G C SNP ZNF646 ENST00000300850 human ensembl 70_37 +1 known missense c.1354 p.E452Q 0.330 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ZNF683 257101 genome.wustl.edu 37 1 26694260 26694260 + Missense_Mutation SNP T T C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 1 26694260 26694260 T C SNP ZNF683 ENST00000403843 human ensembl 70_37 -1 known missense c.143 p.D48G 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF683 HGNC ZNF69 7620 genome.wustl.edu 37 19 12016104 12016104 + Missense_Mutation SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 12016104 12016104 C T SNP ZNF69 ENST00000429654 human ensembl 70_37 +1 known missense c.892 p.H298Y 0.992 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 ZNF69 HGNC ZNF750 79755 genome.wustl.edu 37 17 80788294 80788294 + Missense_Mutation SNP C C G TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 17 80788294 80788294 C G SNP ZNF750 ENST00000269394 human ensembl 70_37 -1 known missense c.1896 p.Q632H 0.999 NULL NULL - no_errors ZNF750 HGNC ZNF764 92595 genome.wustl.edu 37 16 30566961 30566961 + Missense_Mutation SNP A A C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 16 30566961 30566961 A C SNP ZNF764 ENST00000252797 human ensembl 70_37 -1 known missense c.781 p.C261G 0.991 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF764 HGNC ZNF773 374928 genome.wustl.edu 37 19 58017753 58017753 + Missense_Mutation SNP C C A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 58017753 58017753 C A SNP ZNF773 ENST00000282292 human ensembl 70_37 +1 known missense c.290 p.A97E 0.008 NULL 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 ZNF773 HGNC ZNF814 730051 genome.wustl.edu 37 19 58385818 58385818 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5ef4c25-9b8c-4b52-92ac-6f0bfff93282 a6eaeac8-9943-4ea1-b40b-ccf53e8544b0 19 58385818 58385818 G A SNP ZNF814 ENST00000435989 human ensembl 70_37 -1 known missense c.940 p.H314Y 0.013 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 ZNF814 HGNC