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 A4GALT 53947 genome.wustl.edu 37 22 43089412 43089412 + Silent SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 22 43089412 43089412 G A SNP A4GALT ENST00000249005 human ensembl 70_37 -1 known silent c.546 p.L182 0.992 pfam_GlycoTrfase_DXD_sugar-bd_CS pfam_A1-4-GlycosylTfrase_dom,pfam_GlycoTrfase_DXD_sugar-bd_CS - no_errors A4GALT HGNC ABCA13 154664 genome.wustl.edu 37 7 48450142 48450142 + Missense_Mutation SNP C C A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 7 48450142 48450142 C A SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known missense c.12096 p.H4032Q 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ABCF2 10061 genome.wustl.edu 37 7 150913103 150913103 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 7 150913103 150913103 C T SNP ABCF2 ENST00000222388 human ensembl 70_37 -1 known missense c.1351 p.D451N 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF2 HGNC ACSM4 341392 genome.wustl.edu 37 12 7476146 7476146 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 12 7476146 7476146 C T SNP ACSM4 ENST00000399422 human ensembl 70_37 +1 novel missense c.1298 p.S433F 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM4 HGNC ADAMTS20 80070 genome.wustl.edu 37 12 43840503 43840503 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 12 43840503 43840503 C T SNP ADAMTS20 ENST00000389420 human ensembl 70_37 -1 known missense c.2092 p.D698N 1.000 prints_Peptidase_M12B_ADAM-TS 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 ADD2 119 genome.wustl.edu 37 2 70918050 70918050 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 2 70918050 70918050 C T SNP ADD2 ENST00000264436 human ensembl 70_37 -1 known missense c.717 p.M239I 1.000 pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC APEX2 27301 genome.wustl.edu 37 X 55026966 55026966 + Silent SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 X 55026966 55026966 C T SNP APEX2 ENST00000374987 human ensembl 70_37 +1 known silent c.111 p.D37 0.960 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III pfam_Endo/exonuclease/phosphatase,pfam_Znf_GRF,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III - no_errors APEX2 HGNC AUTS2 26053 genome.wustl.edu 37 7 70255460 70255460 + Silent SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 7 70255460 70255460 G A SNP AUTS2 ENST00000342771 human ensembl 70_37 +1 known silent c.3258 p.R1086 0.999 NULL prints_AUTS2 - no_errors AUTS2 HGNC BAI3 577 genome.wustl.edu 37 6 69703686 69703686 + Silent SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 6 69703686 69703686 G A SNP BAI3 ENST00000370598 human ensembl 70_37 +1 known silent c.1761 p.Q587 0.989 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC C1orf116 79098 genome.wustl.edu 37 1 207196584 207196584 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 207196584 207196584 C G SNP C1orf116 ENST00000359470 human ensembl 70_37 -1 known missense c.525 p.Q175H 0.001 NULL NULL - no_errors C1orf116 HGNC C1orf210 149466 genome.wustl.edu 37 1 43748630 43748630 + Silent SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 43748630 43748630 G C SNP C1orf210 ENST00000423420 human ensembl 70_37 -1 known silent c.168 p.L56 1.000 NULL NULL - no_errors C1orf210 HGNC C21orf88 114041 genome.wustl.edu 37 21 40971332 40971332 + RNA SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 21 40971332 40971332 C T SNP C21orf88 ENST00000489821 human ensembl 70_37 -1 known rna NULL NULL 0.051 - - - no_errors C21orf88 HGNC C5AR1 728 genome.wustl.edu 37 19 47823991 47823991 + Silent SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 19 47823991 47823991 C T SNP C5AR1 ENST00000355085 human ensembl 70_37 +1 known silent c.957 p.L319 0.002 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_C5A_anaphtx_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Brdyknn_rcpt,prints_Frt_met_rcpt - no_errors C5AR1 HGNC TBC1D32 221322 genome.wustl.edu 37 6 121631950 121631950 + Missense_Mutation SNP T T C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 6 121631950 121631950 T C SNP C6orf170 ENST00000275159 human ensembl 70_37 -1 putative missense c.539 p.Q180R 1.000 NULL superfamily_Rab-GTPase-TBC_dom - no_errors C6orf170 HGNC C9orf47 286223 genome.wustl.edu 37 9 91606129 91606129 + Silent SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 9 91606129 91606129 G A SNP C9orf47 ENST00000334490 human ensembl 70_37 +1 known silent c.219 p.P73 0.000 NULL NULL - no_errors C9orf47 HGNC CACNA1C 775 genome.wustl.edu 37 12 2716295 2716295 + Missense_Mutation SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 12 2716295 2716295 G C SNP CACNA1C ENST00000399634 human ensembl 70_37 +1 known missense c.3355 p.E1119Q 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC CACNA1H 8912 genome.wustl.edu 37 16 1260464 1260464 + Missense_Mutation SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 16 1260464 1260464 G C SNP CACNA1H ENST00000348261 human ensembl 70_37 +1 known missense c.3940 p.E1314Q 1.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC CAPRIN1 4076 genome.wustl.edu 37 11 34101277 34101277 + Nonsense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 11 34101277 34101277 C G SNP CAPRIN1 ENST00000341394 human ensembl 70_37 +1 known nonsense c.791 p.S264* 0.993 NULL pfam_Caprin-1_C - no_errors CAPRIN1 HGNC CD99L2 83692 genome.wustl.edu 37 X 149963742 149963742 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 X 149963742 149963742 C T SNP CD99L2 ENST00000370377 human ensembl 70_37 -1 known missense c.367 p.D123N 0.990 pfam_CD99L2 pfam_CD99L2 - no_errors CD99L2 HGNC CELF3 11189 genome.wustl.edu 37 1 151681738 151681738 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 151681738 151681738 C T SNP CELF3 ENST00000290583 human ensembl 70_37 -1 known missense c.364 p.D122N 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF3 HGNC CELF3 11189 genome.wustl.edu 37 1 151681743 151681743 + Missense_Mutation SNP G G T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 151681743 151681743 G T SNP CELF3 ENST00000290583 human ensembl 70_37 -1 known missense c.359 p.T120N 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF3 HGNC CEP57L1 285753 genome.wustl.edu 37 6 109471422 109471422 + Missense_Mutation SNP A A C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 6 109471422 109471422 A C SNP CEP57L1 ENST00000359793 human ensembl 70_37 +1 known missense c.442 p.N148H 0.951 pfam_Cep57_MT-bd_dom pfam_Cep57_MT-bd_dom - no_errors CEP57L1 HGNC CIR1 9541 genome.wustl.edu 37 2 175213653 175213653 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 2 175213653 175213653 C T SNP CIR1 ENST00000342016 human ensembl 70_37 -1 known missense c.925 p.E309K 0.997 NULL pfam_CIR_N_dom,superfamily_Znf_CCHC - no_errors CIR1 HGNC CLCA2 9635 genome.wustl.edu 37 1 86904663 86904663 + Silent SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 86904663 86904663 G A SNP CLCA2 ENST00000370565 human ensembl 70_37 +1 known silent c.1077 p.E359 0.001 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA2 HGNC CLEC4D 338339 genome.wustl.edu 37 12 8672931 8672931 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 12 8672931 8672931 G A SNP CLEC4D ENST00000299665 human ensembl 70_37 +1 known missense c.494 p.R165H 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4D HGNC CLPTM1L 81037 genome.wustl.edu 37 5 1344504 1344504 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 5 1344504 1344504 C G SNP CLPTM1L ENST00000320895 human ensembl 70_37 -1 known missense c.225 p.L75F 1.000 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1L HGNC CLPTM1L 81037 genome.wustl.edu 37 5 1344527 1344527 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 5 1344527 1344527 C T SNP CLPTM1L ENST00000320895 human ensembl 70_37 -1 known missense c.202 p.E68K 1.000 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1L HGNC COL6A1 1291 genome.wustl.edu 37 21 47406452 47406452 + Silent SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 21 47406452 47406452 G A SNP COL6A1 ENST00000361866 human ensembl 70_37 +1 known silent c.441 p.L147 0.374 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC COL6A4P1 344875 genome.wustl.edu 37 3 15219174 15219174 + RNA SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 3 15219174 15219174 C T SNP COL6A4P1 ENST00000446690 human ensembl 70_37 -1 known rna NULL NULL 0.754 - - - no_errors COL6A4P1 HGNC COL6A4P1 344875 genome.wustl.edu 37 3 15219329 15219329 + RNA SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 3 15219329 15219329 C T SNP COL6A4P1 ENST00000446690 human ensembl 70_37 -1 known rna NULL NULL 0.222 - - - no_errors COL6A4P1 HGNC COX5B 1329 genome.wustl.edu 37 2 98262630 98262630 + Silent SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 2 98262630 98262630 G C SNP COX5B ENST00000258424 human ensembl 70_37 +1 known silent c.81 p.A27 0.001 NULL pfam_Cyt_c_oxidase_su5b - no_errors COX5B HGNC CRYZ 1429 genome.wustl.edu 37 1 75172972 75172973 + RNA DEL AT AT - TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 75172972 75172973 AT - DEL CRYZ ENST00000492102 human ensembl 70_37 -1 known rna NULL NULL 0.003:0.001 - - - no_errors CRYZ HGNC CSMD2 114784 genome.wustl.edu 37 1 34102038 34102038 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 34102038 34102038 C G SNP CSMD2 ENST00000373381 human ensembl 70_37 -1 known missense c.4891 p.E1631Q 0.926 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP 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 CSMD2 HGNC CT47B1 643311 genome.wustl.edu 37 X 120008813 120008813 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 X 120008813 120008813 C T SNP CT47B1 ENST00000371311 human ensembl 70_37 -1 known missense c.712 p.E238K 0.001 NULL NULL - no_errors CT47B1 HGNC DHRSX 207063 genome.wustl.edu 37 X 2184871 2184871 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 X 2184871 2184871 G A SNP DHRSX ENST00000334651 human ensembl 70_37 -1 known missense c.506 p.S169F 0.991 pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH - no_errors DHRSX HGNC DNHD1 144132 genome.wustl.edu 37 11 6587071 6587071 + Missense_Mutation SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 11 6587071 6587071 G C SNP DNHD1 ENST00000254579 human ensembl 70_37 +1 known missense c.10903 p.E3635Q 0.000 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_t-SNARE - no_errors DNHD1 HGNC DOK6 220164 genome.wustl.edu 37 18 67231744 67231744 + Missense_Mutation SNP G G T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 18 67231744 67231744 G T SNP DOK6 ENST00000382713 human ensembl 70_37 +1 known missense c.88 p.V30F 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK6 HGNC EDEM3 80267 genome.wustl.edu 37 1 184671965 184671965 + Missense_Mutation SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 184671965 184671965 G C SNP EDEM3 ENST00000318130 human ensembl 70_37 -1 known missense c.2369 p.S790C 1.000 NULL pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM3 HGNC EIF3M 10480 genome.wustl.edu 37 11 32610234 32610234 + Silent SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 11 32610234 32610234 G A SNP EIF3M ENST00000531120 human ensembl 70_37 +1 known silent c.270 p.L90 1.000 superfamily_ARM-type_fold pfam_PCI_dom,superfamily_ARM-type_fold,smart_PCI_dom - no_errors EIF3M HGNC EIF4G2 1982 genome.wustl.edu 37 11 10830402 10830402 + RNA SNP C C A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 11 10830402 10830402 C A SNP EIF4G2 ENST00000525972 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors EIF4G2 HGNC ENSG00000202275 0 genome.wustl.edu 37 14 104263661 104263661 + RNA SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 14 104263661 104263661 G A SNP ENSG00000202275 ENST00000365405 human ensembl 70_37 -1 novel rna NULL NULL 0.004 - - - no_errors SNORD51 RFAM ENSG00000218819 0 genome.wustl.edu 37 2 21361407 21361407 + Silent SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 2 21361407 21361407 G A SNP ENSG00000218819 ENST00000405799 human ensembl 70_37 +1 novel silent c.1068 p.L356 0.976 pfam_Tudor pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors AC010872.2 Clone_based_vega_gene ENSG00000228157 0 genome.wustl.edu 37 17 18996811 18996811 + Missense_Mutation SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 17 18996811 18996811 G C SNP ENSG00000228157 ENST00000428928 human ensembl 70_37 +1 known missense c.149 p.R50P 0.001 NULL NULL - no_errors AC007952.5 Clone_based_vega_gene ENSG00000259966 0 genome.wustl.edu 37 16 32618896 32618896 + RNA SNP A A T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 16 32618896 32618896 A T SNP ENSG00000259966 ENST00000562976 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-652G5.1 Clone_based_vega_gene ENSG00000260078 0 genome.wustl.edu 37 16 53405032 53405032 + RNA SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 16 53405032 53405032 C T SNP ENSG00000260078 ENST00000565421 human ensembl 70_37 -1 known rna NULL NULL 0.759 - - - no_errors RP11-44F14.1 Clone_based_vega_gene EPC1 80314 genome.wustl.edu 37 10 32561043 32561043 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 10 32561043 32561043 G A SNP EPC1 ENST00000263062 human ensembl 70_37 -1 known missense c.1985 p.A662V 1.000 pfam_Enhancer_polycomb_C pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N - no_errors EPC1 HGNC EPHA5 2044 genome.wustl.edu 37 4 66356421 66356421 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 4 66356421 66356421 G A SNP EPHA5 ENST00000273854 human ensembl 70_37 -1 known missense c.1076 p.S359F 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC EPHB1 2047 genome.wustl.edu 37 3 134670480 134670480 + Missense_Mutation SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 3 134670480 134670480 G C SNP EPHB1 ENST00000398015 human ensembl 70_37 +1 known missense c.391 p.E131Q 1.000 pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB1 HGNC FAM179A 165186 genome.wustl.edu 37 2 29247030 29247030 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 2 29247030 29247030 C T SNP FAM179A ENST00000379558 human ensembl 70_37 +1 known missense c.1643 p.S548F 1.000 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,superfamily_ARM-type_fold - no_errors FAM179A HGNC NUTM2F 54754 genome.wustl.edu 37 9 97082512 97082512 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 9 97082512 97082512 G A SNP FAM22F ENST00000253262 human ensembl 70_37 -1 known missense c.1346 p.S449F 0.818 NULL NULL - no_errors FAM22F HGNC FAM83A 84985 genome.wustl.edu 37 8 124219598 124219598 + Silent SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 8 124219598 124219598 C T SNP FAM83A ENST00000318462 human ensembl 70_37 +1 known silent c.975 p.S325 0.000 NULL pfam_DUF1669 - no_errors FAM83A HGNC FAT3 120114 genome.wustl.edu 37 11 92087080 92087080 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 11 92087080 92087080 C T SNP FAT3 ENST00000298047 human ensembl 70_37 +1 known missense c.1802 p.S601L 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC LINC00905 148231 genome.wustl.edu 37 19 16146741 16146741 + RNA SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 19 16146741 16146741 G C SNP FLJ25328 ENST00000397365 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AC114273.1 Clone_based_vega_gene FLNA 2316 genome.wustl.edu 37 X 153594730 153594730 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 X 153594730 153594730 C G SNP FLNA ENST00000369850 human ensembl 70_37 -1 known missense c.1174 p.E392Q 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC FRS2 10818 genome.wustl.edu 37 12 69968293 69968293 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 12 69968293 69968293 G A SNP FRS2 ENST00000299293 human ensembl 70_37 +1 known missense c.1085 p.R362H 1.000 NULL pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors FRS2 HGNC GJB5 2709 genome.wustl.edu 37 1 35223480 35223480 + Missense_Mutation SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 35223480 35223480 G C SNP GJB5 ENST00000338513 human ensembl 70_37 +1 known missense c.549 p.K183N 0.999 pfam_Connexin_CCC,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin311 - no_errors GJB5 HGNC GLB1 2720 genome.wustl.edu 37 3 33094985 33094985 + Missense_Mutation SNP A A T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 3 33094985 33094985 A T SNP GLB1 ENST00000445488 human ensembl 70_37 -1 known missense c.934 p.L312M 0.974 pfam_Glycoside_Hdrlase_35,superfamily_Glycoside_hydrolase_SF pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1 HGNC GNB1 2782 genome.wustl.edu 37 1 1736005 1736005 + Missense_Mutation SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 1736005 1736005 G C SNP GNB1 ENST00000378606 human ensembl 70_37 -1 known missense c.283 p.L95V 1.000 pirsf_Guanine_nucleotide-bd_bsu,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,pfscan_WD40_repeat_dom pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GNB1 HGNC GNB1L 54584 genome.wustl.edu 37 22 19776256 19776256 + Silent SNP G G T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 22 19776256 19776256 G T SNP GNB1L ENST00000329517 human ensembl 70_37 -1 known silent c.960 p.L320 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GNB1L HGNC GPR179 440435 genome.wustl.edu 37 17 36484561 36484561 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 17 36484561 36484561 C T SNP GPR179 ENST00000342292 human ensembl 70_37 -1 known missense c.4891 p.D1631N 0.013 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC GPR179 440435 genome.wustl.edu 37 17 36484589 36484589 + Silent SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 17 36484589 36484589 C T SNP GPR179 ENST00000342292 human ensembl 70_37 -1 known silent c.4863 p.E1621 0.683 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC HCK 3055 genome.wustl.edu 37 20 30681813 30681813 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 20 30681813 30681813 C T SNP HCK ENST00000375852 human ensembl 70_37 +1 known missense c.1240 p.R414W 0.998 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_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors HCK HGNC HCN1 348980 genome.wustl.edu 37 5 45645500 45645500 + Silent SNP C C A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 5 45645500 45645500 C A SNP HCN1 ENST00000303230 human ensembl 70_37 -1 known silent c.636 p.V212 0.997 pfam_Ion_trans_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC HCN4 10021 genome.wustl.edu 37 15 73614928 73614928 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 15 73614928 73614928 C T SNP HCN4 ENST00000261917 human ensembl 70_37 -1 known missense c.3506 p.G1169E 1.000 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN4 HGNC HIST1H2BG 8339 genome.wustl.edu 37 6 26216559 26216559 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 6 26216559 26216559 C T SNP HIST1H2BG ENST00000244601 human ensembl 70_37 -1 known missense c.313 p.G105R 1.000 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 HIST1H2BG HGNC HLA-C 3107 genome.wustl.edu 37 6 31239015 31239015 + Nonsense_Mutation SNP C C A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 6 31239015 31239015 C A SNP HLA-C ENST00000539307 human ensembl 70_37 -1 known nonsense c.565 p.E189* 0.987 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2 pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-C HGNC IFI27L1 122509 genome.wustl.edu 37 14 94568898 94568898 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 14 94568898 94568898 C T SNP IFI27L1 ENST00000393115 human ensembl 70_37 +1 known missense c.299 p.S100L 0.000 NULL pfam_Interferon-induced_6-16 - no_errors IFI27L1 HGNC ITM2B 9445 genome.wustl.edu 37 13 48830439 48830439 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 13 48830439 48830439 G A SNP ITM2B ENST00000378565 human ensembl 70_37 +1 known missense c.373 p.E125K 1.000 NULL pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors ITM2B HGNC JUP 3728 genome.wustl.edu 37 17 39919565 39919565 + Silent SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 17 39919565 39919565 C T SNP JUP ENST00000310706 human ensembl 70_37 -1 known silent c.1167 p.L389 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors JUP HGNC JUP 3728 genome.wustl.edu 37 17 39925391 39925391 + Silent SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 17 39925391 39925391 C G SNP JUP ENST00000310706 human ensembl 70_37 -1 known silent c.537 p.L179 0.998 superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors JUP HGNC KANK1 23189 genome.wustl.edu 37 9 710904 710904 + Silent SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 9 710904 710904 C G SNP KANK1 ENST00000382297 human ensembl 70_37 +1 known silent c.138 p.L46 1.000 pfam_KN_motif pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC KCNN4 3783 genome.wustl.edu 37 19 44278346 44278346 + Silent SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 19 44278346 44278346 C T SNP KCNN4 ENST00000262888 human ensembl 70_37 -1 known silent c.681 p.E227 1.000 pfam_Ion_trans_2 pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom - no_errors KCNN4 HGNC KHDC3L 154288 genome.wustl.edu 37 6 74072594 74072594 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 6 74072594 74072594 G A SNP KHDC3L ENST00000370367 human ensembl 70_37 +1 known missense c.142 p.E48K 0.528 NULL NULL - no_errors KHDC3L HGNC KIAA0232 9778 genome.wustl.edu 37 4 6862786 6862786 + Missense_Mutation SNP A A G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 4 6862786 6862786 A G SNP KIAA0232 ENST00000307659 human ensembl 70_37 +1 known missense c.677 p.N226S 1.000 NULL NULL - no_errors KIAA0232 HGNC LAMA5 3911 genome.wustl.edu 37 20 60893630 60893631 + Frame_Shift_Ins INS - - CGGT TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 20 60893630 60893631 - CGGT INS LAMA5 ENST00000252999 human ensembl 70_37 -1 known frame_shift_ins c.7119_7118 p.L2374fs 0.657:0.009 pfam_Laminin_I pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,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,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC LEF1 51176 genome.wustl.edu 37 4 109000667 109000667 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 4 109000667 109000667 C T SNP LEF1 ENST00000265165 human ensembl 70_37 -1 known missense c.826 p.D276N 1.000 NULL pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors LEF1 HGNC LINC00083 400797 genome.wustl.edu 37 1 178464055 178464055 + RNA SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 178464055 178464055 C G SNP LINC00083 ENST00000445098 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00083 HGNC LOC100507463 100507463 genome.wustl.edu 37 6 32813284 32813284 + RNA SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 6 32813284 32813284 C G SNP LOC100507463 ENST00000412095 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors XXbac-BPG246D15.8 Clone_based_vega_gene LOC643406 643406 genome.wustl.edu 37 20 5454497 5454497 + RNA SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 20 5454497 5454497 C T SNP LOC643406 ENST00000430097 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP5-828H9.1 Clone_based_vega_gene LRRC41 10489 genome.wustl.edu 37 1 46764081 46764081 + RNA SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 46764081 46764081 C T SNP LRRC41 ENST00000469150 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors LRRC41 HGNC LRRIQ1 84125 genome.wustl.edu 37 12 85517847 85517847 + Splice_Site SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 12 85517847 85517847 G C SNP LRRIQ1 ENST00000393217 human ensembl 70_37 +1 known splice_site c.3558-1 e16-1 0.866 - - - no_errors LRRIQ1 HGNC LTN1 26046 genome.wustl.edu 37 21 30329098 30329098 + Missense_Mutation SNP T T A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 21 30329098 30329098 T A SNP LTN1 ENST00000361371 human ensembl 70_37 -1 known missense c.3065 p.E1022V 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC MAP3K4 4216 genome.wustl.edu 37 6 161519323 161519323 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 6 161519323 161519323 C G SNP MAP3K4 ENST00000392142 human ensembl 70_37 +1 known missense c.3538 p.P1180A 1.000 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 MAP3K4 HGNC MBD6 114785 genome.wustl.edu 37 12 57919663 57919663 + Silent SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 12 57919663 57919663 G C SNP MBD6 ENST00000355673 human ensembl 70_37 +1 known silent c.912 p.L304 0.987 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC MED1 5469 genome.wustl.edu 37 17 37565278 37565278 + Nonsense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 17 37565278 37565278 G A SNP MED1 ENST00000300651 human ensembl 70_37 -1 known nonsense c.3196 p.Q1066* 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC MICA 100507436 genome.wustl.edu 37 6 31379931 31379931 + Missense_Mutation SNP A A T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 6 31379931 31379931 A T SNP MICA ENST00000364810 human ensembl 70_37 +1 known missense c.821 p.R274L 0.001 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors MICA HGNC MPL 4352 genome.wustl.edu 37 1 43814553 43814553 + Missense_Mutation SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 43814553 43814553 G C SNP MPL ENST00000372470 human ensembl 70_37 +1 known missense c.1348 p.E450Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors MPL HGNC MRPL28 10573 genome.wustl.edu 37 16 419128 419128 + Silent SNP C C A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 16 419128 419128 C A SNP MRPL28 ENST00000199706 human ensembl 70_37 -1 known silent c.381 p.V127 1.000 NULL NULL - no_errors MRPL28 HGNC MTMR1 8776 genome.wustl.edu 37 X 149919523 149919523 + Nonsense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 X 149919523 149919523 C T SNP MTMR1 ENST00000451863 human ensembl 70_37 +1 known nonsense c.1678 p.R560* 0.000 NULL pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors MTMR1 HGNC MTMR14 64419 genome.wustl.edu 37 3 9711148 9711148 + Missense_Mutation SNP G G T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 3 9711148 9711148 G T SNP MTMR14 ENST00000296003 human ensembl 70_37 +1 known missense c.526 p.D176Y 0.991 NULL NULL - no_errors MTMR14 HGNC MYH10 4628 genome.wustl.edu 37 17 8384713 8384713 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 17 8384713 8384713 C T SNP MYH10 ENST00000396239 human ensembl 70_37 -1 known missense c.5161 p.E1721K 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC MYH10 4628 genome.wustl.edu 37 17 8508240 8508240 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 17 8508240 8508240 C G SNP MYH10 ENST00000396239 human ensembl 70_37 -1 known missense c.406 p.E136Q 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC MYH7 4625 genome.wustl.edu 37 14 23885517 23885517 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 14 23885517 23885517 G A SNP MYH7 ENST00000355349 human ensembl 70_37 -1 known missense c.4649 p.S1550F 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC MYH8 4626 genome.wustl.edu 37 17 10304060 10304060 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 17 10304060 10304060 C G SNP MYH8 ENST00000403437 human ensembl 70_37 -1 known missense c.3382 p.E1128Q 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC MYH9 4627 genome.wustl.edu 37 22 36700097 36700097 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 22 36700097 36700097 C G SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known missense c.2334 p.K778N 1.000 smart_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC MYH9 4627 genome.wustl.edu 37 22 36700117 36700117 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 22 36700117 36700117 C T SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known missense c.2314 p.E772K 1.000 smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC MYLK 4638 genome.wustl.edu 37 3 123419838 123419838 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 3 123419838 123419838 G A SNP MYLK ENST00000360304 human ensembl 70_37 -1 known missense c.2477 p.A826V 1.000 NULL pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 MYLK HGNC MYO18B 84700 genome.wustl.edu 37 22 26164199 26164199 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 22 26164199 26164199 G A SNP MYO18B ENST00000335473 human ensembl 70_37 +1 known missense c.316 p.G106S 0.000 NULL pfam_Myosin_head_motor_dom,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC MYO5B 4645 genome.wustl.edu 37 18 47500758 47500758 + Silent SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 18 47500758 47500758 G C SNP MYO5B ENST00000285039 human ensembl 70_37 -1 known silent c.1284 p.L428 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 N4BP2L2 10443 genome.wustl.edu 37 13 33054766 33054766 + RNA SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 13 33054766 33054766 C T SNP N4BP2L2 ENST00000473025 human ensembl 70_37 -1 known rna NULL NULL 0.200 - - - no_errors N4BP2L2 HGNC NDST3 9348 genome.wustl.edu 37 4 118975531 118975531 + Missense_Mutation SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 4 118975531 118975531 G C SNP NDST3 ENST00000296499 human ensembl 70_37 +1 known missense c.466 p.E156Q 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST3 HGNC NDUFA6 4700 genome.wustl.edu 37 22 42483070 42483070 + Silent SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 22 42483070 42483070 G C SNP NDUFA6 ENST00000498737 human ensembl 70_37 -1 known silent c.327 p.V109 1.000 pfam_Complex1_LYR pfam_Complex1_LYR - no_errors NDUFA6 HGNC NEK6 10783 genome.wustl.edu 37 9 127054795 127054795 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 9 127054795 127054795 C G SNP NEK6 ENST00000539416 human ensembl 70_37 +1 known missense c.23 p.S8C 0.000 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK6 HGNC NFE2L2 4780 genome.wustl.edu 37 2 178095888 178095888 + Silent SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 2 178095888 178095888 G A SNP NFE2L2 ENST00000397062 human ensembl 70_37 -1 known silent c.1443 p.F481 1.000 superfamily_Euk_TF_DNA-bd pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC NGEF 25791 genome.wustl.edu 37 2 233744295 233744295 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 2 233744295 233744295 C G SNP NGEF ENST00000264051 human ensembl 70_37 -1 known missense c.2037 p.Q679H 1.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors NGEF HGNC NGLY1 55768 genome.wustl.edu 37 3 25770649 25770649 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 3 25770649 25770649 C G SNP NGLY1 ENST00000280700 human ensembl 70_37 -1 known missense c.1586 p.R529T 1.000 pfam_Peptide_N_glycanase_PAW_dom,superfamily_Galactose-bd-like,smart_Peptide_N_glycanase_PAW_dom pfam_PUB_domain,pfam_Transglutaminase-like,pfam_Rad4/PNGase_transGLS-fold,pfam_Peptide_N_glycanase_PAW_dom,superfamily_Galactose-bd-like,smart_PUG-dom,smart_Transglutaminase-like,smart_Peptide_N_glycanase_PAW_dom - no_errors NGLY1 HGNC NPAP1 23742 genome.wustl.edu 37 15 24921288 24921288 + Missense_Mutation SNP C C A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 15 24921288 24921288 C A SNP NPAP1 ENST00000329468 human ensembl 70_37 +1 known missense c.274 p.L92M 0.000 NULL NULL - no_errors NPAP1 HGNC NUMA1 4926 genome.wustl.edu 37 11 71726075 71726075 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 11 71726075 71726075 G A SNP NUMA1 ENST00000393695 human ensembl 70_37 -1 known missense c.2474 p.A825V 0.886 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC OBSCN 84033 genome.wustl.edu 37 1 228511046 228511046 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 228511046 228511046 G A SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.15391 p.E5131K 0.996 pfam_Ig_I-set,pfscan_Ig-like 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 OBSCN 84033 genome.wustl.edu 37 1 228560176 228560176 + Nonsense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 228560176 228560176 C T SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known nonsense c.21697 p.Q7233* 0.007 NULL 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 OPTN 10133 genome.wustl.edu 37 10 13169814 13169814 + Missense_Mutation SNP G G T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 10 13169814 13169814 G T SNP OPTN ENST00000263036 human ensembl 70_37 +1 known missense c.1312 p.A438S 1.000 NULL pfam_NEMO_N - no_errors OPTN HGNC OR2L3 391192 genome.wustl.edu 37 1 248224230 248224230 + Missense_Mutation SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 248224230 248224230 G C SNP OR2L3 ENST00000359959 human ensembl 70_37 +1 known missense c.247 p.D83H 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L3 HGNC OR3A4P 390756 genome.wustl.edu 37 17 3213841 3213841 + RNA SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 17 3213841 3213841 C T SNP OR3A4P ENST00000323164 human ensembl 70_37 +1 known rna NULL NULL 0.992 - - - no_errors OR3A4P HGNC OR4N4 283694 genome.wustl.edu 37 15 22383378 22383378 + Missense_Mutation SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 15 22383378 22383378 G C SNP OR4N4 ENST00000328795 human ensembl 70_37 +1 known missense c.906 p.L302F 0.134 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N4 HGNC PDE1C 5137 genome.wustl.edu 37 7 31887617 31887617 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 7 31887617 31887617 C G SNP PDE1C ENST00000321453 human ensembl 70_37 -1 known missense c.945 p.M315I 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC PEX5L 51555 genome.wustl.edu 37 3 179754389 179754389 + RNA SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 3 179754389 179754389 C T SNP PEX5L ENST00000474909 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PEX5L HGNC PHAX 51808 genome.wustl.edu 37 5 125939337 125939337 + Nonsense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 5 125939337 125939337 C T SNP PHAX ENST00000297540 human ensembl 70_37 +1 known nonsense c.172 p.R58* 1.000 NULL pfam_PHAX_RNA-binding_domain - no_errors PHAX HGNC PHLDA1 22822 genome.wustl.edu 37 12 76424550 76424550 + Silent SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 12 76424550 76424550 C T SNP PHLDA1 ENST00000266671 human ensembl 70_37 -1 known silent c.972 p.Q324 0.992 NULL smart_Pleckstrin_homology - no_errors PHLDA1 HGNC PIEZO1 9780 genome.wustl.edu 37 16 88787119 88787119 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 16 88787119 88787119 C G SNP PIEZO1 ENST00000301015 human ensembl 70_37 -1 novel missense c.5706 p.E1902D 0.000 NULL pfam_DUF3595 - no_errors PIEZO1 HGNC PLEC 5339 genome.wustl.edu 37 8 144994596 144994596 + Silent SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 8 144994596 144994596 C T SNP PLEC ENST00000322810 human ensembl 70_37 -1 known silent c.9804 p.L3268 0.982 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC PLEC 5339 genome.wustl.edu 37 8 144996767 144996767 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 8 144996767 144996767 C G SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.7741 p.D2581H 1.000 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC PLEC 5339 genome.wustl.edu 37 8 144997377 144997377 + Silent SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 8 144997377 144997377 C T SNP PLEC ENST00000322810 human ensembl 70_37 -1 known silent c.7131 p.L2377 0.900 superfamily_Chorismate_mutase_type_II pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC PLEC 5339 genome.wustl.edu 37 8 144998429 144998429 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 8 144998429 144998429 C T SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.6079 p.D2027N 1.000 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC PPM1N 147699 genome.wustl.edu 37 19 46003774 46003774 + Nonsense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 19 46003774 46003774 C G SNP PPM1N ENST00000451287 human ensembl 70_37 +1 known nonsense c.1118 p.S373* 0.988 pfam_PP2C_C,superfamily_PP2C_C pfam_PP2C-like,pfam_PP2C_C,superfamily_PP2C-like,superfamily_PP2C_C,smart_PP2C-like - no_errors PPM1N HGNC PRDM10 56980 genome.wustl.edu 37 11 129830857 129830857 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 11 129830857 129830857 C T SNP PRDM10 ENST00000358825 human ensembl 70_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM10 HGNC PRRT1 80863 genome.wustl.edu 37 6 32116549 32116549 + RNA SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 6 32116549 32116549 G A SNP PRRT1 ENST00000467780 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors PRRT1 HGNC PTDSS1 9791 genome.wustl.edu 37 8 97311943 97311943 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 8 97311943 97311943 C T SNP PTDSS1 ENST00000517309 human ensembl 70_37 +1 known missense c.622 p.P208S 1.000 pfam_PSS pfam_PSS - no_errors PTDSS1 HGNC QTRTD1 79691 genome.wustl.edu 37 3 113798870 113798870 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 3 113798870 113798870 C G SNP QTRTD1 ENST00000281273 human ensembl 70_37 +1 known missense c.864 p.F288L 1.000 pfam_tRNA_ribo_trans,superfamily_tRNA_ribo_trans,tigrfam_tRNA_ribo_trans pfam_tRNA_ribo_trans,superfamily_tRNA_ribo_trans,tigrfam_tRNA_ribo_trans - no_errors QTRTD1 HGNC RAD21 5885 genome.wustl.edu 37 8 117875458 117875458 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 8 117875458 117875458 C T SNP RAD21 ENST00000297338 human ensembl 70_37 -1 known missense c.185 p.G62E 1.000 pfam_Rad21_Rec8_N pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu,pfam_ScpA - no_errors RAD21 HGNC RBM15 64783 genome.wustl.edu 37 1 110882124 110882124 + Nonsense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 110882124 110882124 C T SNP RBM15 ENST00000369784 human ensembl 70_37 +1 known nonsense c.97 p.Q33* 0.772 NULL pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15 HGNC RBMXL3 139804 genome.wustl.edu 37 X 114427079 114427079 + Silent SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 X 114427079 114427079 C T SNP RBMXL3 ENST00000424776 human ensembl 70_37 +1 known silent c.3075 p.L1025 0.439 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC REV3L 5980 genome.wustl.edu 37 6 111694699 111694699 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 6 111694699 111694699 C G SNP REV3L ENST00000358835 human ensembl 70_37 -1 known missense c.4859 p.S1620T 1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC RGS8 85397 genome.wustl.edu 37 1 182616020 182616020 + Silent SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 182616020 182616020 C T SNP RGS8 ENST00000258302 human ensembl 70_37 -1 known silent c.447 p.T149 0.946 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS8 HGNC RNF128 79589 genome.wustl.edu 37 X 105970628 105970628 + Splice_Site SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 X 105970628 105970628 G A SNP RNF128 ENST00000255499 human ensembl 70_37 +1 known splice_site c.484+1 e1+1 1.000 - - - no_errors RNF128 HGNC RPS25 6230 genome.wustl.edu 37 11 118888132 118888132 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 11 118888132 118888132 C T SNP RPS25 ENST00000527673 human ensembl 70_37 -1 known missense c.223 p.E75K 1.000 pfam_Ribosomal_S25 pfam_Ribosomal_S25 - no_errors RPS25 HGNC RS1 6247 genome.wustl.edu 37 X 18662565 18662565 + Silent SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 X 18662565 18662565 C T SNP RS1 ENST00000379984 human ensembl 70_37 -1 known silent c.507 p.Q169 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors RS1 HGNC RYR1 6261 genome.wustl.edu 37 19 39063838 39063838 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 19 39063838 39063838 C T SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known missense c.14020 p.R4674W 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC RYR2 6262 genome.wustl.edu 37 1 237777443 237777443 + Missense_Mutation SNP T T A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 237777443 237777443 T A SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.5009 p.V1670E 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC SCAPER 49855 genome.wustl.edu 37 15 77096936 77096936 + Missense_Mutation SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 15 77096936 77096936 G C SNP SCAPER ENST00000324767 human ensembl 70_37 -1 known missense c.432 p.F144L 1.000 NULL smart_Znf_U1 - no_errors SCAPER HGNC SEPT5 5413 genome.wustl.edu 37 22 19709399 19709399 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 22 19709399 19709399 C T SNP SEPT5 ENST00000383045 human ensembl 70_37 +1 known missense c.896 p.T299M 1.000 pfam_Cell_div_GTP-bd,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pirsf_Septin - no_errors SEPT5 HGNC SERBP1 26135 genome.wustl.edu 37 1 67890585 67890585 + Silent SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 67890585 67890585 G C SNP SERBP1 ENST00000370995 human ensembl 70_37 -1 known silent c.681 p.V227 1.000 pfam_HABP4_PAIRBP1-bd pfam_HABP4_PAIRBP1-bd - no_errors SERBP1 HGNC SIAH3 283514 genome.wustl.edu 37 13 46357699 46357699 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 13 46357699 46357699 C T SNP SIAH3 ENST00000400405 human ensembl 70_37 -1 known missense c.629 p.R210Q 1.000 pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like - no_errors SIAH3 HGNC SLC13A1 6561 genome.wustl.edu 37 7 122787347 122787347 + Silent SNP G G T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 7 122787347 122787347 G T SNP SLC13A1 ENST00000194130 human ensembl 70_37 -1 known silent c.678 p.T226 0.001 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A1 HGNC SLC22A7 10864 genome.wustl.edu 37 6 43267781 43267781 + Silent SNP T T C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 6 43267781 43267781 T C SNP SLC22A7 ENST00000372585 human ensembl 70_37 +1 known silent c.804 p.C268 0.002 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A7 HGNC SLC46A3 283537 genome.wustl.edu 37 13 29278264 29278265 + RNA INS - - A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 13 29278264 29278265 - A INS SLC46A3 ENST00000475385 human ensembl 70_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors SLC46A3 HGNC SLC9A7P1 121456 genome.wustl.edu 37 12 98849969 98849969 + RNA SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 12 98849969 98849969 G C SNP SLC9A7P1 ENST00000554295 human ensembl 70_37 -1 putative rna NULL NULL 0.997 - - - no_errors SLC9A7P1 HGNC SPATA5 166378 genome.wustl.edu 37 4 123850306 123850306 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 4 123850306 123850306 C G SNP SPATA5 ENST00000274008 human ensembl 70_37 +1 known missense c.400 p.L134V 0.036 superfamily_Asp_de-COase-like_fold pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase - no_errors SPATA5 HGNC SPDYE3 441272 genome.wustl.edu 37 7 99905525 99905525 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 7 99905525 99905525 C T SNP SPDYE3 ENST00000332397 human ensembl 70_37 +1 known missense c.17 p.P6L 0.008 NULL pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYE3 HGNC SPON1 10418 genome.wustl.edu 37 11 14282292 14282292 + RNA SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 11 14282292 14282292 G A SNP SPON1 ENST00000310358 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors SPON1 HGNC STK3 6788 genome.wustl.edu 37 8 99719434 99719434 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 8 99719434 99719434 G A SNP STK3 ENST00000419617 human ensembl 70_37 -1 known missense c.457 p.L153F 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH,pfscan_Prot_kinase_cat_dom - no_errors STK3 HGNC STXBP4 252983 genome.wustl.edu 37 17 53237197 53237197 + Missense_Mutation SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 17 53237197 53237197 G C SNP STXBP4 ENST00000376352 human ensembl 70_37 +1 known missense c.1587 p.M529I 0.988 superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP pfam_WW_Rsp5_WWP,pfam_PDZ,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors STXBP4 HGNC SUV420H2 84787 genome.wustl.edu 37 19 55856064 55856064 + RNA SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 19 55856064 55856064 C T SNP SUV420H2 ENST00000402499 human ensembl 70_37 +1 known rna NULL NULL 0.013 - - - no_errors SUV420H2 HGNC TBC1D20 128637 genome.wustl.edu 37 20 419231 419231 + Nonstop_Mutation SNP C C A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 20 419231 419231 C A SNP TBC1D20 ENST00000354200 human ensembl 70_37 -1 known nonstop c.1211 p.*404L 0.974 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D20 HGNC TCEB3C 162699 genome.wustl.edu 37 18 44555665 44555665 + Silent SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 18 44555665 44555665 G A SNP TCEB3C ENST00000330682 human ensembl 70_37 -1 known silent c.549 p.G183 0.003 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3C HGNC TG 7038 genome.wustl.edu 37 8 133919127 133919127 + Nonsense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 8 133919127 133919127 C T SNP TG ENST00000220616 human ensembl 70_37 +1 known nonsense c.3829 p.Q1277* 0.799 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC TGFB1I1 7041 genome.wustl.edu 37 16 31487834 31487834 + Silent SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 16 31487834 31487834 C T SNP TGFB1I1 ENST00000394863 human ensembl 70_37 +1 known silent c.921 p.H307 1.000 pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM - no_errors TGFB1I1 HGNC TIAF1 9220 genome.wustl.edu 37 17 27400946 27400946 + Missense_Mutation SNP G G T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 17 27400946 27400946 G T SNP TIAF1 ENST00000359450 human ensembl 70_37 -1 known missense c.272 p.P91Q 0.876 NULL NULL - no_errors TIAF1 HGNC TJP1 7082 genome.wustl.edu 37 15 29997798 29997798 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 15 29997798 29997798 C G SNP TJP1 ENST00000346128 human ensembl 70_37 -1 known missense c.5002 p.E1668Q 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 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 TRAPPC8 22878 genome.wustl.edu 37 18 29444664 29444664 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 18 29444664 29444664 C G SNP TRAPPC8 ENST00000283351 human ensembl 70_37 -1 known missense c.2671 p.E891Q 1.000 NULL NULL - no_errors TRAPPC8 HGNC TRPM5 29850 genome.wustl.edu 37 11 2439793 2439793 + Silent SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 11 2439793 2439793 G A SNP TRPM5 ENST00000452833 human ensembl 70_37 -1 known silent c.684 p.L228 0.835 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors TRPM5 HGNC TST 7263 genome.wustl.edu 37 22 37414661 37414661 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 22 37414661 37414661 G A SNP TST ENST00000249042 human ensembl 70_37 -1 known missense c.113 p.S38L 0.220 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors TST HGNC TTC39A 22996 genome.wustl.edu 37 1 51767348 51767348 + Missense_Mutation SNP G G T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 51767348 51767348 G T SNP TTC39A ENST00000447632 human ensembl 70_37 -1 known missense c.1057 p.H353N 1.000 pfam_OMP_IML2_mit/TPR_39 pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39A HGNC UBR5 51366 genome.wustl.edu 37 8 103359135 103359135 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 8 103359135 103359135 G A SNP UBR5 ENST00000520539 human ensembl 70_37 -1 known missense c.572 p.S191L 1.000 pfam_E3_UbLigase_EDD_UBA pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC UHMK1 127933 genome.wustl.edu 37 1 162469921 162469921 + Missense_Mutation SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 162469921 162469921 C T SNP UHMK1 ENST00000489294 human ensembl 70_37 +1 known missense c.445 p.L149F 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RRM_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Prot_kinase_cat_dom - no_errors UHMK1 HGNC ULK4 54986 genome.wustl.edu 37 3 41439743 41439743 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 3 41439743 41439743 C G SNP ULK4 ENST00000301831 human ensembl 70_37 -1 known missense c.3505 p.D1169H 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ULK4 HGNC UNC5D 137970 genome.wustl.edu 37 8 35542112 35542112 + Missense_Mutation SNP G G T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 8 35542112 35542112 G T SNP UNC5D ENST00000404895 human ensembl 70_37 +1 known missense c.764 p.W255L 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5D HGNC USPL1 10208 genome.wustl.edu 37 13 31221109 31221109 + Missense_Mutation SNP G G A TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 13 31221109 31221109 G A SNP USPL1 ENST00000255304 human ensembl 70_37 +1 known missense c.1153 p.E385K 1.000 pfscan_Peptidase_C19 pfscan_Peptidase_C19 - no_errors USPL1 HGNC WDR70 55100 genome.wustl.edu 37 5 37727020 37727020 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 5 37727020 37727020 C G SNP WDR70 ENST00000265107 human ensembl 70_37 +1 known missense c.1750 p.L584V 0.994 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR70 HGNC XRCC6 2547 genome.wustl.edu 37 22 42049549 42049549 + Silent SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 22 42049549 42049549 C T SNP XRCC6 ENST00000359308 human ensembl 70_37 +1 known silent c.1146 p.F382 0.989 pirsf_DNA_helicase_ATP-dep_Ku70,pfam_DNA_helicase_ATP-dep_Ku,superfamily_SPOC-like,smart_DNA_helicase_ATP-dep_Ku,tigrfam_DNA_helicase_ATP-dep_Ku70 pirsf_DNA_helicase_ATP-dep_Ku70,pfam_Ku_N,pfam_DNA_helicase_ATP-dep_Ku,pfam_Ku_C,pfam_SAP_DNA-bd,superfamily_SPOC-like,smart_DNA_helicase_ATP-dep_Ku,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd,tigrfam_DNA_helicase_ATP-dep_Ku70 - no_errors XRCC6 HGNC ZBED5 58486 genome.wustl.edu 37 11 10875792 10875792 + Missense_Mutation SNP T T C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 11 10875792 10875792 T C SNP ZBED5 ENST00000413761 human ensembl 70_37 -1 putative missense c.701 p.Y234C 0.997 NULL superfamily_RNaseH-like_dom,pfscan_Znf_BED_prd - no_errors ZBED5 HGNC ZNF232 7775 genome.wustl.edu 37 17 5009474 5009474 + Missense_Mutation SNP C C G TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 17 5009474 5009474 C G SNP ZNF232 ENST00000250076 human ensembl 70_37 -1 known missense c.980 p.G327A 1.000 pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF232 HGNC ZNF684 127396 genome.wustl.edu 37 1 41012986 41012986 + Missense_Mutation SNP G G C TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 1 41012986 41012986 G C SNP ZNF684 ENST00000372699 human ensembl 70_37 +1 known missense c.991 p.E331Q 0.049 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 ZNF684 HGNC ZNF768 79724 genome.wustl.edu 37 16 30536771 30536771 + Silent SNP C C T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22c5a391-cf06-4a8c-9a14-c3663eec3a5f c151cb80-3624-46a8-b4c6-9141699c4cd7 16 30536771 30536771 C T SNP ZNF768 ENST00000380412 human ensembl 70_37 -1 known silent c.690 p.E230 1.000 NULL pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF768 HGNC