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 AADACL4 343066 genome.wustl.edu 37 1 12726089 12726089 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 12726089 12726089 C T SNP AADACL4 ENST00000376221 human ensembl 70_37 +1 known silent c.567 p.V189 0.037 pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase - no_errors AADACL4 HGNC ABCA1 19 genome.wustl.edu 37 9 107620810 107620810 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 107620810 107620810 G A SNP ABCA1 ENST00000374736 human ensembl 70_37 -1 known missense c.713 p.P238L 0.993 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ABCA12 26154 genome.wustl.edu 37 2 215876202 215876202 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 215876202 215876202 C G SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known missense c.2293 p.E765Q 0.979 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ABCA13 154664 genome.wustl.edu 37 7 48315169 48315169 + Nonsense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 48315169 48315169 C A SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known nonsense c.5906 p.S1969* 0.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ABCB11 8647 genome.wustl.edu 37 2 169825872 169825872 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 169825872 169825872 C G SNP ABCB11 ENST00000263817 human ensembl 70_37 -1 known missense c.1999 p.E667Q 0.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB11 HGNC ABL1 25 genome.wustl.edu 37 9 133730462 133730462 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 133730462 133730462 C T SNP ABL1 ENST00000372348 human ensembl 70_37 +1 known silent c.585 p.I195 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_F-actin_binding,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,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ACCSL 390110 genome.wustl.edu 37 11 44069823 44069823 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 44069823 44069823 C T SNP ACCSL ENST00000378832 human ensembl 70_37 +1 known silent c.237 p.I79 0.001 NULL pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors ACCSL HGNC ACMSD 130013 genome.wustl.edu 37 2 135628535 135628535 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 135628535 135628535 G A SNP ACMSD ENST00000356140 human ensembl 70_37 +1 known missense c.581 p.G194E 1.000 pfam_Amidohydro_2 pfam_Amidohydro_2 - no_errors ACMSD HGNC ACOX2 8309 genome.wustl.edu 37 3 58517055 58517055 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 58517055 58517055 C T SNP ACOX2 ENST00000302819 human ensembl 70_37 -1 known missense c.742 p.D248N 0.965 superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase - no_errors ACOX2 HGNC ACSS3 79611 genome.wustl.edu 37 12 81568569 81568569 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 81568569 81568569 G A SNP ACSS3 ENST00000548058 human ensembl 70_37 +1 known silent c.1101 p.G367 0.999 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448 - no_errors ACSS3 HGNC ACTBP12 100462767 genome.wustl.edu 37 1 92694325 92694325 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 92694325 92694325 C G SNP ACTBP12 ENST00000594933 human ensembl 70_37 -1 known rna NULL NULL 0.993 - - - no_errors ACTBP12 HGNC ACTG1 71 genome.wustl.edu 37 17 79478443 79478443 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 79478443 79478443 C T SNP ACTG1 ENST00000331925 human ensembl 70_37 -1 known silent c.573 p.K191 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTG1 HGNC ACTG1 71 genome.wustl.edu 37 17 79479369 79479369 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 79479369 79479369 C T SNP ACTG1 ENST00000331925 human ensembl 70_37 -1 known silent c.12 p.E4 1.000 pfam_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTG1 HGNC ACTG1 71 genome.wustl.edu 37 17 79479374 79479374 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 79479374 79479374 C T SNP ACTG1 ENST00000331925 human ensembl 70_37 -1 known missense c.7 p.E3K 1.000 pfam_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTG1 HGNC ACTL7B 10880 genome.wustl.edu 37 9 111617580 111617580 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 111617580 111617580 C T SNP ACTL7B ENST00000374667 human ensembl 70_37 -1 known missense c.631 p.E211K 0.998 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL7B HGNC ACTN2 88 genome.wustl.edu 37 1 236883473 236883473 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 236883473 236883473 C T SNP ACTN2 ENST00000366578 human ensembl 70_37 +1 known nonsense c.430 p.Q144* 1.000 superfamily_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN2 HGNC ADAM11 4185 genome.wustl.edu 37 17 42851877 42851877 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 42851877 42851877 G A SNP ADAM11 ENST00000200557 human ensembl 70_37 +1 known silent c.1095 p.A365 0.025 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM11 HGNC ADAM15 8751 genome.wustl.edu 37 1 155030771 155030771 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 155030771 155030771 C G SNP ADAM15 ENST00000356955 human ensembl 70_37 +1 known missense c.1771 p.L591V 0.997 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM15 HGNC ADAMTS12 81792 genome.wustl.edu 37 5 33576974 33576974 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 33576974 33576974 G C SNP ADAMTS12 ENST00000504830 human ensembl 70_37 -1 known missense c.3157 p.P1053A 0.001 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ADAMTS18 170692 genome.wustl.edu 37 16 77397746 77397746 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 77397746 77397746 C G SNP ADAMTS18 ENST00000282849 human ensembl 70_37 -1 known missense c.1009 p.D337H 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ADAMTS20 80070 genome.wustl.edu 37 12 43944892 43944892 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 43944892 43944892 C T SNP ADAMTS20 ENST00000389420 human ensembl 70_37 -1 known silent c.273 p.L91 1.000 pfam_Peptidase_M12B_N 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 ADAMTS4 9507 genome.wustl.edu 37 1 161165346 161165346 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 161165346 161165346 G A SNP ADAMTS4 ENST00000367996 human ensembl 70_37 -1 known silent c.1170 p.V390 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS4 HGNC ADAMTS6 11174 genome.wustl.edu 37 5 64766649 64766649 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 64766649 64766649 G C SNP ADAMTS6 ENST00000381055 human ensembl 70_37 -1 known missense c.418 p.Q140E 1.000 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS6 HGNC ADAMTSL1 92949 genome.wustl.edu 37 9 18639370 18639370 + Silent SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 18639370 18639370 G T SNP ADAMTSL1 ENST00000327883 human ensembl 70_37 +1 known silent c.795 p.L265 1.000 pfam_ADAM_spacer1 pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL1 HGNC ADAMTSL4 54507 genome.wustl.edu 37 1 150524268 150524268 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 150524268 150524268 C T SNP ADAMTSL4 ENST00000483335 human ensembl 70_37 +1 known rna NULL NULL 0.022 - - - no_errors ADAMTSL4 HGNC ADAR 103 genome.wustl.edu 37 1 154561847 154561847 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 154561847 154561847 G A SNP ADAR ENST00000292205 human ensembl 70_37 -1 known silent c.2889 p.I963 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_Ds-RNA-bd,smart_dsRNA_A_deaminase,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC ADCY3 109 genome.wustl.edu 37 2 25065203 25065203 + Silent SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 25065203 25065203 C A SNP ADCY3 ENST00000260600 human ensembl 70_37 -1 known silent c.876 p.L292 0.997 smart_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ADH5 128 genome.wustl.edu 37 4 99993741 99993741 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 99993741 99993741 C T SNP ADH5 ENST00000296412 human ensembl 70_37 -1 known silent c.1083 p.L361 0.955 superfamily_GroES-like,tigrfam_ADH_3 pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,tigrfam_ADH_3 - no_errors ADH5 HGNC ADK 132 genome.wustl.edu 37 10 76429981 76429981 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 76429981 76429981 G A SNP ADK ENST00000286621 human ensembl 70_37 +1 known silent c.918 p.Q306 1.000 pfam_PfkB pfam_PfkB,prints_Adenokinase - no_errors ADK HGNC AFAP1 60312 genome.wustl.edu 37 4 7873716 7873716 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 7873716 7873716 C T SNP AFAP1 ENST00000420658 human ensembl 70_37 -1 known silent c.90 p.V30 0.001 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1 HGNC AFF3 3899 genome.wustl.edu 37 2 100210165 100210165 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 100210165 100210165 C T SNP AFF3 ENST00000356421 human ensembl 70_37 -1 known missense c.2033 p.R678Q 0.990 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC AGL 178 genome.wustl.edu 37 1 100340197 100340197 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 100340197 100340197 C G SNP AGL ENST00000477753 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AGL HGNC AGPAT3 56894 genome.wustl.edu 37 21 45374797 45374797 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 21 45374797 45374797 C G SNP AGPAT3 ENST00000497909 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AGPAT3 HGNC AGTPBP1 23287 genome.wustl.edu 37 9 88307683 88307683 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 88307683 88307683 C T SNP AGTPBP1 ENST00000376109 human ensembl 70_37 -1 known silent c.234 p.E78 1.000 NULL pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC AHNAK 79026 genome.wustl.edu 37 11 62284969 62284969 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 62284969 62284969 C T SNP AHNAK ENST00000378024 human ensembl 70_37 -1 known silent c.16920 p.L5640 0.181 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC AHNAK 79026 genome.wustl.edu 37 11 62297007 62297007 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 62297007 62297007 C G SNP AHNAK ENST00000378024 human ensembl 70_37 -1 known missense c.4882 p.D1628H 0.949 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC AIMP2 7965 genome.wustl.edu 37 7 6054795 6054795 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 6054795 6054795 C G SNP AIMP2 ENST00000223029 human ensembl 70_37 +1 known missense c.154 p.L52V 0.976 NULL superfamily_Glutathione-S-Trfase_C-like - no_errors AIMP2 HGNC AK9 221264 genome.wustl.edu 37 6 109940391 109940391 + Nonsense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 109940391 109940391 C A SNP AKD1 ENST00000424296 human ensembl 70_37 -1 known nonsense c.1303 p.E435* 0.558 NULL pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase - no_errors AKD1 HGNC AKR1B1 231 genome.wustl.edu 37 7 134133207 134133207 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 134133207 134133207 G C SNP AKR1B1 ENST00000285930 human ensembl 70_37 -1 known missense c.591 p.I197M 0.987 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1B1 HGNC AKR1C1 1645 genome.wustl.edu 37 10 5014915 5014915 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 5014915 5014915 G C SNP AKR1C1 ENST00000380872 human ensembl 70_37 +1 known missense c.820 p.E274Q 0.331 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C1 HGNC AKR1CL1 340811 genome.wustl.edu 37 10 5203902 5203902 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 5203902 5203902 G A SNP AKR1CL1 ENST00000334314 human ensembl 70_37 -1 known missense c.295 p.H99Y 0.035 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1CL1 HGNC AKR1D1 6718 genome.wustl.edu 37 7 137790151 137790151 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 137790151 137790151 C G SNP AKR1D1 ENST00000242375 human ensembl 70_37 +1 known silent c.555 p.L185 0.998 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1D1 HGNC ALDH1A2 8854 genome.wustl.edu 37 15 58287282 58287282 + Silent SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 58287282 58287282 G T SNP ALDH1A2 ENST00000249750 human ensembl 70_37 -1 known silent c.549 p.I183 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A2 HGNC ALS2CL 259173 genome.wustl.edu 37 3 46713023 46713023 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 46713023 46713023 G A SNP ALS2CL ENST00000318962 human ensembl 70_37 -1 known silent c.2736 p.P912 0.003 pfam_VPS9,pfscan_VPS9 pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9 - no_errors ALS2CL HGNC ANGPT4 51378 genome.wustl.edu 37 20 855045 855045 + Silent SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 855045 855045 G T SNP ANGPT4 ENST00000381922 human ensembl 70_37 -1 known silent c.1233 p.V411 0.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPT4 HGNC ANK2 287 genome.wustl.edu 37 4 114254283 114254283 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 114254283 114254283 G C SNP ANK2 ENST00000357077 human ensembl 70_37 +1 known missense c.3298 p.E1100Q 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ANK2 287 genome.wustl.edu 37 4 114274497 114274497 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 114274497 114274497 G A SNP ANK2 ENST00000357077 human ensembl 70_37 +1 known missense c.4723 p.E1575K 0.418 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ANKRD12 23253 genome.wustl.edu 37 18 9255252 9255252 + Nonsense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 9255252 9255252 G T SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known nonsense c.1987 p.E663* 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ANKRD12 23253 genome.wustl.edu 37 18 9255426 9255426 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 9255426 9255426 G C SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.2161 p.E721Q 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ANKRD12 23253 genome.wustl.edu 37 18 9256059 9256059 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 9256059 9256059 G C SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.2794 p.E932Q 0.618 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ANKRD19P 138649 genome.wustl.edu 37 9 95571763 95571763 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 95571763 95571763 C T SNP ANKRD19P ENST00000473204 human ensembl 70_37 +1 known rna NULL NULL 0.987 - - - no_errors ANKRD19P HGNC ANKRD20A11P 391267 genome.wustl.edu 37 21 15282846 15282846 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 21 15282846 15282846 G C SNP ANKRD20A11P ENST00000442192 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors ANKRD20A11P HGNC ANKRD20A5P 440482 genome.wustl.edu 37 18 14183964 14183964 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 14183964 14183964 C G SNP ANKRD20A5P ENST00000581181 human ensembl 70_37 +1 known rna NULL NULL 0.971 - - - no_errors ANKRD20A5P HGNC ANKRD20A5P 440482 genome.wustl.edu 37 18 14225685 14225685 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 14225685 14225685 G C SNP ANKRD20A5P ENST00000577614 human ensembl 70_37 +1 known rna NULL NULL 0.252 - - - no_errors ANKRD20A5P HGNC ANKRD20A8P 729171 genome.wustl.edu 37 2 95522897 95522897 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 95522897 95522897 G A SNP ANKRD20A8P ENST00000432432 human ensembl 70_37 -1 known rna NULL NULL 0.044 - - - no_errors ANKRD20A8P HGNC ANKRD26 22852 genome.wustl.edu 37 10 27302020 27302020 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 27302020 27302020 C T SNP ANKRD26 ENST00000436985 human ensembl 70_37 -1 known missense c.4792 p.E1598K 0.170 pfam_DUF3496 pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ANKRD28 23243 genome.wustl.edu 37 3 15712019 15712019 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 15712019 15712019 C T SNP ANKRD28 ENST00000383777 human ensembl 70_37 -1 known missense c.3019 p.D1007N 1.000 pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD28 HGNC ANKRD36BP2 645784 genome.wustl.edu 37 2 89102238 89102238 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 89102238 89102238 G C SNP ANKRD36BP2 ENST00000393525 human ensembl 70_37 +1 known rna NULL NULL 0.095 - - - no_errors ANKRD36BP2 HGNC ANKRD36BP2 645784 genome.wustl.edu 37 2 89102373 89102373 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 89102373 89102373 G A SNP ANKRD36BP2 ENST00000393525 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ANKRD36BP2 HGNC ANKRD62 342850 genome.wustl.edu 37 18 12094118 12094118 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 12094118 12094118 C T SNP ANKRD62 ENST00000314074 human ensembl 70_37 +1 known silent c.60 p.V20 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD62 HGNC ANO4 121601 genome.wustl.edu 37 12 101365090 101365090 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 101365090 101365090 C G SNP ANO4 ENST00000392977 human ensembl 70_37 +1 known missense c.463 p.L155V 0.924 NULL pfam_Anoctamin - no_errors ANO4 HGNC ANXA11 311 genome.wustl.edu 37 10 81923864 81923864 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 81923864 81923864 G C SNP ANXA11 ENST00000265447 human ensembl 70_37 -1 known missense c.894 p.I298M 1.000 pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXI,prints_AnnexinVII - no_errors ANXA11 HGNC ANXA11 311 genome.wustl.edu 37 10 81926598 81926598 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 81926598 81926598 G A SNP ANXA11 ENST00000481805 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors ANXA11 HGNC AOC3 8639 genome.wustl.edu 37 17 41004143 41004143 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 41004143 41004143 C G SNP AOC3 ENST00000308423 human ensembl 70_37 +1 known missense c.783 p.I261M 0.950 pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_N-reg pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC3 HGNC AP1B1P1 23782 genome.wustl.edu 37 22 32528330 32528330 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 32528330 32528330 C G SNP AP1B1P1 ENST00000432373 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AP1B1P1 HGNC AP1S2 8905 genome.wustl.edu 37 X 15870500 15870500 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 15870500 15870500 C G SNP AP1S2 ENST00000421527 human ensembl 70_37 -1 known missense c.274 p.E92Q 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom pfam_AP_mu_sigma_su,superfamily_Longin-like_dom - no_errors AP1S2 HGNC AP3M1 26985 genome.wustl.edu 37 10 75896476 75896476 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 75896476 75896476 C T SNP AP3M1 ENST00000355264 human ensembl 70_37 -1 known missense c.359 p.G120E 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu,pfscan_Clathrin_mu_C - no_errors AP3M1 HGNC AP4S1 11154 genome.wustl.edu 37 14 31549837 31549837 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 31549837 31549837 C G SNP AP4S1 ENST00000216366 human ensembl 70_37 +1 known missense c.353 p.S118C 0.000 pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP4S1 HGNC AP5B1 91056 genome.wustl.edu 37 11 65546592 65546592 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 65546592 65546592 G A SNP AP5B1 ENST00000532090 human ensembl 70_37 -1 novel missense c.1372 p.P458S 0.949 NULL NULL - no_errors AP5B1 HGNC AP5B1 91056 genome.wustl.edu 37 11 65546749 65546749 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 65546749 65546749 G C SNP AP5B1 ENST00000532090 human ensembl 70_37 -1 novel silent c.1215 p.L405 0.948 NULL NULL - no_errors AP5B1 HGNC APC 324 genome.wustl.edu 37 5 112178870 112178870 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 112178870 112178870 G A SNP APC ENST00000257430 human ensembl 70_37 +1 known missense c.7579 p.D2527N 1.000 pfam_APC_basic_dom pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC APOB 338 genome.wustl.edu 37 2 21230143 21230143 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 21230143 21230143 C G SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.9597 p.Q3199H 0.002 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC APOB 338 genome.wustl.edu 37 2 21252549 21252549 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 21252549 21252549 C T SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.1579 p.A527T 1.000 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC APOB 338 genome.wustl.edu 37 2 21256185 21256185 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 21256185 21256185 C T SNP APOB ENST00000233242 human ensembl 70_37 -1 known silent c.1110 p.L370 1.000 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC AQP10 89872 genome.wustl.edu 37 1 154296280 154296280 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 154296280 154296280 C T SNP AQP10 ENST00000324978 human ensembl 70_37 +1 known silent c.705 p.F235 1.000 pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_10,prints_Aquaporin_3,tigrfam_MIP - no_errors AQP10 HGNC ARAP3 64411 genome.wustl.edu 37 5 141059987 141059987 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 141059987 141059987 C T SNP ARAP3 ENST00000239440 human ensembl 70_37 -1 known missense c.67 p.D23N 1.000 pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP3 HGNC ARFGEF1 10565 genome.wustl.edu 37 8 68165807 68165807 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 68165807 68165807 G A SNP ARFGEF1 ENST00000262215 human ensembl 70_37 -1 known silent c.2577 p.I859 1.000 pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF1 HGNC ARHGAP6 395 genome.wustl.edu 37 X 11206923 11206923 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 11206923 11206923 G C SNP ARHGAP6 ENST00000337414 human ensembl 70_37 -1 known silent c.1002 p.L334 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ARHGEF11 9826 genome.wustl.edu 37 1 156909391 156909391 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 156909391 156909391 C T SNP ARHGEF11 ENST00000368194 human ensembl 70_37 -1 known missense c.4045 p.E1349K 0.121 NULL pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain - no_errors ARHGEF11 HGNC ARHGEF4 50649 genome.wustl.edu 37 2 131673433 131673433 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 131673433 131673433 G C SNP ARHGEF4 ENST00000409359 human ensembl 70_37 +1 putative missense c.924 p.Q308H 0.914 NULL NULL - no_errors ARHGEF4 HGNC ARID5A 10865 genome.wustl.edu 37 2 97217455 97217455 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 97217455 97217455 C T SNP ARID5A ENST00000357485 human ensembl 70_37 +1 known missense c.1190 p.S397F 0.951 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5A HGNC ARMC10 83787 genome.wustl.edu 37 7 102716269 102716269 + Nonsense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 102716269 102716269 C A SNP ARMC10 ENST00000323716 human ensembl 70_37 +1 known nonsense c.185 p.S62* 0.001 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMC10 HGNC ARMC3 219681 genome.wustl.edu 37 10 23270566 23270566 + Missense_Mutation SNP A A T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 23270566 23270566 A T SNP ARMC3 ENST00000298032 human ensembl 70_37 +1 known missense c.1112 p.E371V 0.908 pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC3 HGNC ARMC3 219681 genome.wustl.edu 37 10 23326324 23326324 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 23326324 23326324 G C SNP ARMC3 ENST00000298032 human ensembl 70_37 +1 known missense c.2535 p.E845D 0.000 NULL pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC3 HGNC ARRDC1 92714 genome.wustl.edu 37 9 140508299 140508299 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 140508299 140508299 C T SNP ARRDC1 ENST00000466367 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ARRDC1 HGNC ARSA 410 genome.wustl.edu 37 22 51066038 51066038 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 51066038 51066038 C G SNP ARSA ENST00000216124 human ensembl 70_37 -1 known missense c.170 p.G57A 0.001 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSA HGNC ASB15 142685 genome.wustl.edu 37 7 123276930 123276930 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 123276930 123276930 C G SNP ASB15 ENST00000275699 human ensembl 70_37 +1 known silent c.1662 p.L554 0.993 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB15 HGNC ASCC1 51008 genome.wustl.edu 37 10 73921387 73921387 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 73921387 73921387 G A SNP ASCC1 ENST00000342444 human ensembl 70_37 -1 known missense c.619 p.H207Y 1.000 pfam_Kinase-A_anchor_nucl_local_sig,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_Euk_LigT pfam_Kinase-A_anchor_nucl_local_sig,pfam_KH_dom_type_1,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_Euk_LigT,pfscan_KH_dom_type_1 - no_errors ASCC1 HGNC ASH1L 55870 genome.wustl.edu 37 1 155451652 155451652 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 155451652 155451652 C G SNP ASH1L ENST00000368346 human ensembl 70_37 -1 known missense c.1009 p.D337H 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ASIC2 40 genome.wustl.edu 37 17 31618955 31618955 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 31618955 31618955 G A SNP ASIC2 ENST00000225823 human ensembl 70_37 -1 known missense c.179 p.S60L 0.194 NULL pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC2 HGNC ASPN 54829 genome.wustl.edu 37 9 95219688 95219688 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 95219688 95219688 G C SNP ASPN ENST00000375544 human ensembl 70_37 -1 known missense c.1025 p.S342C 1.000 pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors ASPN HGNC ATF4 468 genome.wustl.edu 37 22 39917549 39917549 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 39917549 39917549 C G SNP ATF4 ENST00000337304 human ensembl 70_37 +1 known silent c.99 p.L33 1.000 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF4 HGNC ATF7IP 55729 genome.wustl.edu 37 12 14578098 14578098 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 14578098 14578098 G C SNP ATF7IP ENST00000261168 human ensembl 70_37 +1 known missense c.1249 p.D417H 0.040 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ATG10 83734 genome.wustl.edu 37 5 81549226 81549226 + Silent SNP T T C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 81549226 81549226 T C SNP ATG10 ENST00000282185 human ensembl 70_37 +1 known silent c.645 p.D215 0.000 NULL pfam_Autophagy-rel_prot_3 - no_errors ATG10 HGNC ATG2B 55102 genome.wustl.edu 37 14 96792229 96792229 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 96792229 96792229 C G SNP ATG2B ENST00000359933 human ensembl 70_37 -1 known missense c.2194 p.D732H 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ATG4C 84938 genome.wustl.edu 37 1 63282267 63282267 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 63282267 63282267 C T SNP ATG4C ENST00000317868 human ensembl 70_37 +1 known missense c.182 p.A61V 0.010 NULL pfam_Peptidase_C54 - no_errors ATG4C HGNC ATG7 10533 genome.wustl.edu 37 3 11596302 11596302 + Silent SNP T T C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 11596302 11596302 T C SNP ATG7 ENST00000354449 human ensembl 70_37 +1 known silent c.2097 p.D699 1.000 tigrfam_E1-like_Apg7 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_E1-like_Apg7 - no_errors ATG7 HGNC ATMIN 23300 genome.wustl.edu 37 16 81075907 81075907 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 81075907 81075907 G C SNP ATMIN ENST00000299575 human ensembl 70_37 +1 known missense c.484 p.E162Q 1.000 NULL smart_Znf_C2H2-like - no_errors ATMIN HGNC ATN1 1822 genome.wustl.edu 37 12 7048166 7048166 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 7048166 7048166 G C SNP ATN1 ENST00000356654 human ensembl 70_37 +1 known missense c.3040 p.D1014H 1.000 pfam_Atrophin-like,prints_Atrophin-1 pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ATP2A3 489 genome.wustl.edu 37 17 3840822 3840822 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 3840822 3840822 C G SNP ATP2A3 ENST00000359983 human ensembl 70_37 -1 known missense c.2209 p.D737H 1.000 pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2A3 HGNC ATP5F1 515 genome.wustl.edu 37 1 111998857 111998857 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 111998857 111998857 G A SNP ATP5F1 ENST00000369722 human ensembl 70_37 +1 known missense c.373 p.D125N 1.000 pfam_ATPase_F0-cplx_bsu_mt pfam_ATPase_F0-cplx_bsu_mt - no_errors ATP5F1 HGNC ATP8A1 10396 genome.wustl.edu 37 4 42457436 42457436 + Missense_Mutation SNP T T A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 42457436 42457436 T A SNP ATP8A1 ENST00000381668 human ensembl 70_37 -1 known missense c.2695 p.M899L 1.000 tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8A1 HGNC AZU1 566 genome.wustl.edu 37 19 829604 829604 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 829604 829604 G C SNP AZU1 ENST00000233997 human ensembl 70_37 +1 known silent c.258 p.L86 0.992 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors AZU1 HGNC B3GALNT1 8706 genome.wustl.edu 37 3 160803991 160803991 + Missense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 160803991 160803991 G T SNP B3GALNT1 ENST00000320474 human ensembl 70_37 -1 known missense c.552 p.F184L 0.980 pfam_Glyco_trans_31,pfam_Fringe-like pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GALNT1 HGNC BAGE2 85319 genome.wustl.edu 37 21 11060117 11060117 + RNA SNP A A T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 21 11060117 11060117 A T SNP BAGE2 ENST00000474011 human ensembl 70_37 -1 known rna NULL NULL 0.094 - - - no_errors BAGE2 HGNC BANK1 55024 genome.wustl.edu 37 4 102994888 102994888 + Missense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 102994888 102994888 G T SNP BANK1 ENST00000322953 human ensembl 70_37 +1 known missense c.2346 p.K782N 0.832 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors BANK1 HGNC BARD1 580 genome.wustl.edu 37 2 215645790 215645790 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 215645790 215645790 C T SNP BARD1 ENST00000260947 human ensembl 70_37 -1 known missense c.808 p.E270K 0.002 NULL pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt - no_errors BARD1 HGNC BARD1 580 genome.wustl.edu 37 2 215645796 215645796 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 215645796 215645796 C T SNP BARD1 ENST00000260947 human ensembl 70_37 -1 known missense c.802 p.E268K 0.408 NULL pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt - no_errors BARD1 HGNC BCAN 63827 genome.wustl.edu 37 1 156617318 156617318 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 156617318 156617318 G A SNP BCAN ENST00000329117 human ensembl 70_37 +1 known missense c.485 p.R162Q 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII - no_errors BCAN HGNC BCAS2 10286 genome.wustl.edu 37 1 115124155 115124155 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 115124155 115124155 C G SNP BCAS2 ENST00000369541 human ensembl 70_37 -1 known missense c.58 p.D20H 1.000 pfam_BCAS2 pfam_BCAS2 - no_errors BCAS2 HGNC BCHE 590 genome.wustl.edu 37 3 165548329 165548329 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 165548329 165548329 C T SNP BCHE ENST00000264381 human ensembl 70_37 -1 known missense c.493 p.E165K 1.000 pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC BCO2 83875 genome.wustl.edu 37 11 112071405 112071405 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 112071405 112071405 C T SNP BCO2 ENST00000357685 human ensembl 70_37 +1 known missense c.935 p.S312F 1.000 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCO2 HGNC BCR 613 genome.wustl.edu 37 22 23610658 23610658 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 23610658 23610658 G C SNP BCR ENST00000305877 human ensembl 70_37 +1 known missense c.1816 p.E606Q 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC BEST1 7439 genome.wustl.edu 37 11 61723284 61723284 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 61723284 61723284 C T SNP BEST1 ENST00000449131 human ensembl 70_37 +1 known silent c.162 p.V54 0.948 pfam_Bestrophin/UPF0187 pfam_Bestrophin/UPF0187 - no_errors BEST1 HGNC BIN2 51411 genome.wustl.edu 37 12 51686077 51686077 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 51686077 51686077 G A SNP BIN2 ENST00000267012 human ensembl 70_37 -1 known silent c.813 p.V271 0.001 NULL pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin - no_errors BIN2 HGNC BNIP3P1 319138 genome.wustl.edu 37 14 28733920 28733920 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 28733920 28733920 C T SNP BNIP3P1 ENST00000550043 human ensembl 70_37 +1 known rna NULL NULL 0.991 - - - no_errors BNIP3P1 HGNC BPTF 2186 genome.wustl.edu 37 17 65888035 65888035 + Nonsense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 65888035 65888035 C G SNP BPTF ENST00000321892 human ensembl 70_37 +1 known nonsense c.2318 p.S773* 0.999 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC BPTF 2186 genome.wustl.edu 37 17 65907505 65907505 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 65907505 65907505 G A SNP BPTF ENST00000321892 human ensembl 70_37 +1 known missense c.3883 p.D1295N 0.232 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC BRD3 8019 genome.wustl.edu 37 9 136898586 136898586 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 136898586 136898586 C T SNP BRD3 ENST00000473349 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors BRD3 HGNC BRWD1 54014 genome.wustl.edu 37 21 40619650 40619650 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 21 40619650 40619650 C T SNP BRWD1 ENST00000333229 human ensembl 70_37 -1 known missense c.2458 p.E820K 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC BSN 8927 genome.wustl.edu 37 3 49695363 49695363 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 49695363 49695363 C T SNP BSN ENST00000296452 human ensembl 70_37 +1 known nonsense c.8374 p.Q2792* 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC C10orf112 340895 genome.wustl.edu 37 10 19641099 19641099 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 19641099 19641099 C G SNP C10orf112 ENST00000454679 human ensembl 70_37 +1 known silent c.2202 p.L734 0.956 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_MAM_dom - no_errors C10orf112 HGNC C12orf77 196415 genome.wustl.edu 37 12 25149195 25149195 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 25149195 25149195 G C SNP C12orf77 ENST00000549828 human ensembl 70_37 -1 known missense c.82 p.Q28E 1.000 NULL NULL - no_errors C12orf77 HGNC C14orf166B 145497 genome.wustl.edu 37 14 77294855 77294855 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 77294855 77294855 G A SNP C14orf166B ENST00000216453 human ensembl 70_37 +1 known missense c.181 p.E61K 0.003 NULL NULL - no_errors C14orf166B HGNC C17orf47 284083 genome.wustl.edu 37 17 56621168 56621168 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 56621168 56621168 C G SNP C17orf47 ENST00000321691 human ensembl 70_37 -1 known missense c.380 p.R127T 0.067 NULL NULL - no_errors C17orf47 HGNC C17orf51 339263 genome.wustl.edu 37 17 21476531 21476531 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 21476531 21476531 C T SNP C17orf51 ENST00000426261 human ensembl 70_37 -1 known rna NULL NULL 0.042 - - - no_errors C17orf51 HGNC C17orf70 80233 genome.wustl.edu 37 17 79516320 79516320 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 79516320 79516320 C G SNP C17orf70 ENST00000327787 human ensembl 70_37 -1 known missense c.1315 p.E439Q 0.001 NULL NULL - no_errors C17orf70 HGNC C19orf55 148137 genome.wustl.edu 37 19 36249077 36249077 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 36249077 36249077 G A SNP C19orf55 ENST00000544876 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors C19orf55 HGNC C1QTNF6 114904 genome.wustl.edu 37 22 37576362 37576362 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 37576362 37576362 G A SNP C1QTNF6 ENST00000470655 human ensembl 70_37 -1 known rna NULL NULL 0.009 - - - no_errors C1QTNF6 HGNC C1orf123 54987 genome.wustl.edu 37 1 53685956 53685956 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 53685956 53685956 C T SNP C1orf123 ENST00000294360 human ensembl 70_37 -1 known missense c.67 p.E23K 1.000 pfam_DUF866_euk pfam_DUF866_euk - no_errors C1orf123 HGNC C1orf177 163747 genome.wustl.edu 37 1 55273258 55273258 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 55273258 55273258 G A SNP C1orf177 ENST00000371273 human ensembl 70_37 +1 known silent c.252 p.L84 0.660 NULL NULL - no_errors C1orf177 HGNC C1orf74 148304 genome.wustl.edu 37 1 209956597 209956597 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 209956597 209956597 G A SNP C1orf74 ENST00000294811 human ensembl 70_37 -1 known missense c.383 p.S128F 0.106 NULL NULL - no_errors C1orf74 HGNC C2CD2 25966 genome.wustl.edu 37 21 43334767 43334767 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 21 43334767 43334767 C T SNP C2CD2 ENST00000380486 human ensembl 70_37 -1 known missense c.784 p.E262K 0.865 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors C2CD2 HGNC C2orf44 80304 genome.wustl.edu 37 2 24261115 24261115 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 24261115 24261115 G A SNP C2orf44 ENST00000295148 human ensembl 70_37 -1 known missense c.1250 p.S417L 1.000 NULL NULL - no_errors C2orf44 HGNC C2orf44 80304 genome.wustl.edu 37 2 24261742 24261742 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 24261742 24261742 G C SNP C2orf44 ENST00000295148 human ensembl 70_37 -1 known missense c.623 p.S208C 1.000 NULL NULL - no_errors C2orf44 HGNC C2orf81 388963 genome.wustl.edu 37 2 74642114 74642114 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 74642114 74642114 G A SNP C2orf81 ENST00000290390 human ensembl 70_37 -1 known missense c.1109 p.S370F 0.000 NULL NULL - no_errors C2orf81 HGNC C3orf70 285382 genome.wustl.edu 37 3 184800813 184800813 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 184800813 184800813 C T SNP C3orf70 ENST00000335012 human ensembl 70_37 -1 known silent c.735 p.T245 0.000 NULL NULL - no_errors C3orf70 HGNC C4orf21 55345 genome.wustl.edu 37 4 113538800 113538800 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 113538800 113538800 C G SNP C4orf21 ENST00000505019 human ensembl 70_37 -1 known missense c.2398 p.E800Q 0.004 NULL pfam_DUF2439,pfam_Znf_GRF - no_errors C4orf21 HGNC C4orf36 132989 genome.wustl.edu 37 4 87809429 87809429 + Splice_Site SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 87809429 87809429 C G SNP C4orf36 ENST00000295898 human ensembl 70_37 -1 known splice_site c.66-1 e2-1 1.000 - - - no_errors C4orf36 HGNC C5orf45 51149 genome.wustl.edu 37 5 179280283 179280283 + Nonsense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 179280283 179280283 G C SNP C5orf45 ENST00000522157 human ensembl 70_37 -1 known nonsense c.221 p.S74* 0.002 NULL NULL - no_errors C5orf45 HGNC C6orf211 79624 genome.wustl.edu 37 6 151789521 151789521 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 151789521 151789521 G A SNP C6orf211 ENST00000367294 human ensembl 70_37 +1 known missense c.602 p.G201E 0.999 pfam_DUF89,superfamily_DUF89 pfam_DUF89,superfamily_DUF89 - no_errors C6orf211 HGNC C8B 732 genome.wustl.edu 37 1 57406596 57406596 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 57406596 57406596 C G SNP C8B ENST00000371237 human ensembl 70_37 -1 known missense c.1324 p.E442Q 0.058 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C8B HGNC C8orf34 116328 genome.wustl.edu 37 8 69243481 69243481 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 69243481 69243481 C G SNP C8orf34 ENST00000518698 human ensembl 70_37 +1 known silent c.234 p.L78 0.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC C8orf46 254778 genome.wustl.edu 37 8 67408707 67408707 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 67408707 67408707 C G SNP C8orf46 ENST00000305454 human ensembl 70_37 +1 known missense c.106 p.Q36E 1.000 NULL NULL - no_errors C8orf46 HGNC C8orf47 203111 genome.wustl.edu 37 8 99102059 99102059 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 99102059 99102059 G C SNP C8orf47 ENST00000318528 human ensembl 70_37 +1 known missense c.814 p.D272H 0.061 NULL NULL - no_errors C8orf47 HGNC C8orf58 541565 genome.wustl.edu 37 8 22460053 22460053 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 22460053 22460053 G A SNP C8orf58 ENST00000289989 human ensembl 70_37 +1 known missense c.883 p.D295N 0.034 NULL NULL - no_errors C8orf58 HGNC C9orf37 85026 genome.wustl.edu 37 9 140510342 140510342 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 140510342 140510342 C G SNP C9orf37 ENST00000371417 human ensembl 70_37 -1 known missense c.310 p.E104Q 0.036 NULL NULL - no_errors C9orf37 HGNC C9orf78 51759 genome.wustl.edu 37 9 132590389 132590389 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 132590389 132590389 G A SNP C9orf78 ENST00000461349 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C9orf78 HGNC CABYR 26256 genome.wustl.edu 37 18 21735985 21735985 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 21735985 21735985 C A SNP CABYR ENST00000463087 human ensembl 70_37 +1 known missense c.520 p.Q174K 1.000 NULL pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b - no_errors CABYR HGNC CACNA1C 775 genome.wustl.edu 37 12 2788756 2788756 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 2788756 2788756 G C SNP CACNA1C ENST00000399634 human ensembl 70_37 +1 known missense c.5238 p.E1746D 1.000 prints_VDCC_L_a1csu 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 CACNB1 782 genome.wustl.edu 37 17 37331542 37331542 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 37331542 37331542 C T SNP CACNB1 ENST00000394303 human ensembl 70_37 -1 known silent c.1701 p.R567 1.000 NULL pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su - no_errors CACNB1 HGNC CACNB3 784 genome.wustl.edu 37 12 49217216 49217216 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 49217216 49217216 G C SNP CACNB3 ENST00000301050 human ensembl 70_37 +1 known missense c.135 p.E45D 1.000 pfam_VDCC_L_bsu,superfamily_SH3_domain,prints_VDCC_L_b3su pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,prints_VDCC_L_bsu,prints_VDCC_L_b3su - no_errors CACNB3 HGNC CALM1 801 genome.wustl.edu 37 14 90870268 90870268 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 90870268 90870268 G A SNP CALM1 ENST00000356978 human ensembl 70_37 +1 known missense c.241 p.D81N 1.000 pfam_EF-hand_Ca_insen,pfscan_EF_HAND_2 pfam_EF-hand,pfam_EF-hand_Ca_insen,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors CALM1 HGNC CAMSAP2 23271 genome.wustl.edu 37 1 200784767 200784767 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 200784767 200784767 C G SNP CAMSAP2 ENST00000236925 human ensembl 70_37 +1 known missense c.640 p.Q214E 1.000 pfam_CH-domain,superfamily_CH-domain pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC CAPN6 827 genome.wustl.edu 37 X 110491187 110491187 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 110491187 110491187 G A SNP CAPN6 ENST00000324068 human ensembl 70_37 -1 known silent c.1518 p.C506 1.000 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_Ca-dep,superfamily_Calpain_domain_III,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_Ca-dep,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN6 HGNC CAPN8 388743 genome.wustl.edu 37 1 223803797 223803797 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 223803797 223803797 C T SNP CAPN8 ENST00000366872 human ensembl 70_37 -1 known missense c.1183 p.E395K 0.994 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN8 HGNC CAPRIN2 65981 genome.wustl.edu 37 12 30881672 30881672 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 30881672 30881672 C T SNP CAPRIN2 ENST00000251071 human ensembl 70_37 -1 known silent c.1692 p.Q564 0.594 NULL pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors CAPRIN2 HGNC CASC5 57082 genome.wustl.edu 37 15 40933224 40933224 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 40933224 40933224 G C SNP CASC5 ENST00000346991 human ensembl 70_37 +1 known missense c.5875 p.E1959Q 1.000 NULL NULL - no_errors CASC5 HGNC CASP8 841 genome.wustl.edu 37 2 202149751 202149751 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 202149751 202149751 C T SNP CASP8 ENST00000358485 human ensembl 70_37 +1 known nonsense c.1192 p.Q398* 0.935 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20 pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP8 HGNC CAV2 858 genome.wustl.edu 37 7 116140326 116140326 + Missense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 116140326 116140326 G T SNP CAV2 ENST00000222693 human ensembl 70_37 +1 known missense c.163 p.D55Y 1.000 pfam_Caveolin pfam_Caveolin - no_errors CAV2 HGNC CC2D2A 57545 genome.wustl.edu 37 4 15575827 15575827 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 15575827 15575827 G C SNP CC2D2A ENST00000413206 human ensembl 70_37 +1 known missense c.3649 p.E1217Q 1.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors CC2D2A HGNC CC2D2B 387707 genome.wustl.edu 37 10 97752348 97752348 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 97752348 97752348 G C SNP CC2D2B ENST00000475252 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CC2D2B HGNC CCDC120 90060 genome.wustl.edu 37 X 48922114 48922114 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 48922114 48922114 C T SNP CCDC120 ENST00000422185 human ensembl 70_37 +1 known nonsense c.538 p.Q180* 0.807 NULL pfam_DUF3338 - no_errors CCDC120 HGNC CCDC152 100129792 genome.wustl.edu 37 5 42796957 42796957 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 42796957 42796957 G C SNP CCDC152 ENST00000361970 human ensembl 70_37 +1 known missense c.457 p.E153Q 1.000 NULL NULL - no_errors CCDC152 HGNC CCDC159 126075 genome.wustl.edu 37 19 11464109 11464109 + RNA SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 11464109 11464109 C A SNP CCDC159 ENST00000586479 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CCDC159 HGNC CCDC178 374864 genome.wustl.edu 37 18 30926242 30926242 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 30926242 30926242 C G SNP CCDC178 ENST00000406524 human ensembl 70_37 -1 known missense c.591 p.M197I 0.000 NULL NULL - no_errors CCDC178 HGNC CCDC28B 79140 genome.wustl.edu 37 1 32667643 32667643 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 32667643 32667643 C T SNP CCDC28B ENST00000373602 human ensembl 70_37 +1 known missense c.107 p.S36F 1.000 NULL NULL - no_errors CCDC28B HGNC CCDC28B 79140 genome.wustl.edu 37 1 32667666 32667666 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 32667666 32667666 C T SNP CCDC28B ENST00000373602 human ensembl 70_37 +1 known silent c.130 p.L44 1.000 NULL NULL - no_errors CCDC28B HGNC CCDC53 51019 genome.wustl.edu 37 12 102439876 102439876 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 102439876 102439876 G A SNP CCDC53 ENST00000240079 human ensembl 70_37 -1 known missense c.172 p.R58C 1.000 pfam_WASH_CCDC53 pfam_WASH_CCDC53 - no_errors CCDC53 HGNC CCR9 10803 genome.wustl.edu 37 3 45942323 45942323 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 45942323 45942323 G A SNP CCR9 ENST00000357632 human ensembl 70_37 +1 known missense c.43 p.D15N 0.805 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt,prints_Chemokine_CCR11,prints_Chemokine_CXCR4 - no_errors CCR9 HGNC CD163L1 283316 genome.wustl.edu 37 12 7550886 7550886 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 7550886 7550886 C A SNP CD163L1 ENST00000313599 human ensembl 70_37 -1 known missense c.1703 p.R568I 0.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors CD163L1 HGNC CDC42 998 genome.wustl.edu 37 1 22413001 22413001 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 22413001 22413001 C T SNP CDC42 ENST00000421089 human ensembl 70_37 +1 known missense c.374 p.S125L 1.000 pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Rho,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Rho,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors CDC42 HGNC CDC42BPB 9578 genome.wustl.edu 37 14 103470289 103470289 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 103470289 103470289 G A SNP CDC42BPB ENST00000361246 human ensembl 70_37 -1 known silent c.423 p.Y141 0.972 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_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC CDC42BPG 55561 genome.wustl.edu 37 11 64606146 64606146 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 64606146 64606146 C T SNP CDC42BPG ENST00000342711 human ensembl 70_37 -1 known missense c.1105 p.D369N 1.000 pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_AGC-kinase_C pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPG HGNC CDH12 1010 genome.wustl.edu 37 5 21751850 21751850 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 21751850 21751850 G A SNP CDH12 ENST00000382254 human ensembl 70_37 -1 known missense c.2381 p.T794I 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC CDH20 28316 genome.wustl.edu 37 18 59195380 59195380 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 59195380 59195380 G C SNP CDH20 ENST00000262717 human ensembl 70_37 +1 known missense c.1198 p.E400Q 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC CDH8 1006 genome.wustl.edu 37 16 62055157 62055157 + Nonsense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 62055157 62055157 C A SNP CDH8 ENST00000577390 human ensembl 70_37 -1 known nonsense c.151 p.E51* 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC CDK12 51755 genome.wustl.edu 37 17 37627371 37627371 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 37627371 37627371 G C SNP CDK12 ENST00000447079 human ensembl 70_37 +1 known missense c.1286 p.R429T 0.514 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 CDK12 HGNC CDK17 5128 genome.wustl.edu 37 12 96688839 96688839 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 96688839 96688839 C T SNP CDK17 ENST00000261211 human ensembl 70_37 -1 known missense c.935 p.R312Q 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK17 HGNC CDKL5 6792 genome.wustl.edu 37 X 18622091 18622091 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 18622091 18622091 G A SNP CDKL5 ENST00000379989 human ensembl 70_37 +1 known silent c.1047 p.L349 0.990 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 CDKL5 HGNC CDKL5 6792 genome.wustl.edu 37 X 18671622 18671622 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 18671622 18671622 G A SNP CDKL5 ENST00000379989 human ensembl 70_37 +1 known silent c.3051 p.A1017 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 - no_errors CDKL5 HGNC CDON 50937 genome.wustl.edu 37 11 125887079 125887079 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 125887079 125887079 C T SNP CDON ENST00000392693 human ensembl 70_37 -1 known missense c.832 p.D278N 0.321 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CDON HGNC CDR2 1039 genome.wustl.edu 37 16 22361024 22361024 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 22361024 22361024 C T SNP CDR2 ENST00000268383 human ensembl 70_37 -1 known silent c.339 p.L113 0.995 NULL NULL - no_errors CDR2 HGNC CEL 1056 genome.wustl.edu 37 9 135946536 135946536 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 135946536 135946536 G A SNP CEL ENST00000372080 human ensembl 70_37 +1 known silent c.1656 p.L552 0.972 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC CELSR3 1951 genome.wustl.edu 37 3 48679399 48679399 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 48679399 48679399 C T SNP CELSR3 ENST00000544264 human ensembl 70_37 -1 known silent c.8724 p.E2908 0.948 NULL pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC CELSR3 1951 genome.wustl.edu 37 3 48689423 48689423 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 48689423 48689423 C T SNP CELSR3 ENST00000544264 human ensembl 70_37 -1 known missense c.5810 p.R1937Q 0.001 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC CENPE 1062 genome.wustl.edu 37 4 104070090 104070090 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 104070090 104070090 C G SNP CENPE ENST00000265148 human ensembl 70_37 -1 known missense c.3754 p.D1252H 0.993 superfamily_STAT_TF_coiled-coil pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC CENPI 2491 genome.wustl.edu 37 X 100382213 100382213 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 100382213 100382213 G A SNP CENPI ENST00000372927 human ensembl 70_37 +1 known silent c.864 p.L288 0.000 pfam_Centromere_CenpI pfam_Centromere_CenpI - no_errors CENPI HGNC CEP170 9859 genome.wustl.edu 37 1 243319566 243319566 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 243319566 243319566 C G SNP CEP170 ENST00000366542 human ensembl 70_37 -1 known missense c.3868 p.D1290H 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC CEP290 80184 genome.wustl.edu 37 12 88523611 88523611 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 88523611 88523611 C T SNP CEP290 ENST00000309041 human ensembl 70_37 -1 known missense c.712 p.E238K 1.000 NULL NULL - no_errors CEP290 HGNC CEP95 90799 genome.wustl.edu 37 17 62517642 62517642 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 62517642 62517642 G C SNP CEP95 ENST00000556440 human ensembl 70_37 +1 known missense c.712 p.D238H 0.780 NULL superfamily_CH-domain - no_errors CEP95 HGNC CEP97 79598 genome.wustl.edu 37 3 101475947 101475947 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 101475947 101475947 G C SNP CEP97 ENST00000327230 human ensembl 70_37 +1 known missense c.934 p.E312Q 0.994 NULL pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors CEP97 HGNC CFH 3075 genome.wustl.edu 37 1 196695683 196695683 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 196695683 196695683 G A SNP CFH ENST00000367429 human ensembl 70_37 +1 known missense c.1957 p.E653K 0.045 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC CFP 5199 genome.wustl.edu 37 X 47489267 47489267 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 47489267 47489267 C G SNP CFP ENST00000480317 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CFP HGNC CHD3 1107 genome.wustl.edu 37 17 7803244 7803244 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 7803244 7803244 C G SNP CHD3 ENST00000330494 human ensembl 70_37 +1 known missense c.2575 p.L859V 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC CHD7 55636 genome.wustl.edu 37 8 61774767 61774767 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 61774767 61774767 G C SNP CHD7 ENST00000307121 human ensembl 70_37 +1 known missense c.7843 p.V2615L 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC CHI3L1 1116 genome.wustl.edu 37 1 203150299 203150299 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 203150299 203150299 G C SNP CHI3L1 ENST00000255409 human ensembl 70_37 -1 known missense c.702 p.F234L 1.000 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHI3L1 HGNC CHKB 1120 genome.wustl.edu 37 22 51020713 51020713 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 51020713 51020713 C T SNP CHKB ENST00000406938 human ensembl 70_37 -1 known missense c.298 p.E100K 1.000 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom - no_errors CHKB HGNC CHMP5 51510 genome.wustl.edu 37 9 33266018 33266018 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 33266018 33266018 G C SNP CHMP5 ENST00000223500 human ensembl 70_37 +1 known missense c.80 p.R27T 0.998 pfam_Snf7 pfam_Snf7 - no_errors CHMP5 HGNC CHRM2 1129 genome.wustl.edu 37 7 136700395 136700395 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 136700395 136700395 G A SNP CHRM2 ENST00000320658 human ensembl 70_37 +1 known silent c.783 p.Q261 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M2_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC CHTF8 54921 genome.wustl.edu 37 16 69154218 69154218 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 69154218 69154218 C T SNP CHTF8 ENST00000306585 human ensembl 70_37 -1 known silent c.114 p.L38 0.793 NULL NULL - no_errors CHTF8 HGNC CKAP2L 150468 genome.wustl.edu 37 2 113514048 113514048 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 113514048 113514048 G C SNP CKAP2L ENST00000302450 human ensembl 70_37 -1 known missense c.900 p.I300M 0.000 NULL NULL - no_errors CKAP2L HGNC CKAP2L 150468 genome.wustl.edu 37 2 113514124 113514124 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 113514124 113514124 G A SNP CKAP2L ENST00000302450 human ensembl 70_37 -1 known missense c.824 p.S275L 0.000 NULL NULL - no_errors CKAP2L HGNC CLASP2 23122 genome.wustl.edu 37 3 33614827 33614827 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 33614827 33614827 C G SNP CLASP2 ENST00000399362 human ensembl 70_37 -1 known missense c.2498 p.R833T 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC CLEC12A 160364 genome.wustl.edu 37 12 10124202 10124202 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 10124202 10124202 G A SNP CLEC12A ENST00000355690 human ensembl 70_37 +1 known missense c.37 p.E13K 1.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC12A HGNC CLEC4F 165530 genome.wustl.edu 37 2 71043160 71043160 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 71043160 71043160 G A SNP CLEC4F ENST00000272367 human ensembl 70_37 -1 known silent c.1353 p.V451 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4F HGNC CLIC5 53405 genome.wustl.edu 37 6 45882184 45882184 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 45882184 45882184 C T SNP CLIC5 ENST00000484572 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CLIC5 HGNC CLIC5 53405 genome.wustl.edu 37 6 46047623 46047623 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 46047623 46047623 G A SNP CLIC5 ENST00000185206 human ensembl 70_37 -1 known silent c.357 p.L119 0.000 NULL superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC5 HGNC CMYA5 202333 genome.wustl.edu 37 5 79030491 79030491 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 79030491 79030491 C T SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known missense c.5903 p.S1968F 0.003 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC CMYA5 202333 genome.wustl.edu 37 5 79032785 79032785 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 79032785 79032785 G A SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known missense c.8197 p.E2733K 0.150 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC CNGA4 1262 genome.wustl.edu 37 11 6261369 6261369 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 6261369 6261369 C A SNP CNGA4 ENST00000379936 human ensembl 70_37 +1 known missense c.345 p.F115L 0.975 pfam_Ion_trans_dom pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC CNGB1 1258 genome.wustl.edu 37 16 57949228 57949228 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 57949228 57949228 G C SNP CNGB1 ENST00000251102 human ensembl 70_37 -1 known silent c.2229 p.L743 0.992 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC CNTRL 11064 genome.wustl.edu 37 9 123858773 123858773 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 123858773 123858773 C T SNP CNTRL ENST00000238341 human ensembl 70_37 +1 known missense c.553 p.P185S 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC COG4 25839 genome.wustl.edu 37 16 70542705 70542705 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 70542705 70542705 C T SNP COG4 ENST00000393612 human ensembl 70_37 -1 known silent c.1013 p.*338 0.000 NULL pfam_COG_su4,smart_COG_su4 - no_errors COG4 HGNC COL21A1 81578 genome.wustl.edu 37 6 55922389 55922389 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 55922389 55922389 C G SNP COL21A1 ENST00000467045 human ensembl 70_37 -1 known rna NULL NULL 0.990 - - - no_errors COL21A1 HGNC COL4A2 1284 genome.wustl.edu 37 13 110960452 110960452 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 110960452 110960452 C T SNP COL4A2 ENST00000360467 human ensembl 70_37 +1 known silent c.81 p.L27 0.152 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC COL6A1 1291 genome.wustl.edu 37 21 47421214 47421214 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 21 47421214 47421214 G C SNP COL6A1 ENST00000361866 human ensembl 70_37 +1 known missense c.1870 p.E624Q 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC COL9A3 1299 genome.wustl.edu 37 20 61453150 61453150 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 61453150 61453150 C T SNP COL9A3 ENST00000343916 human ensembl 70_37 +1 known silent c.411 p.L137 0.990 pfam_Collagen pfam_Collagen - no_errors COL9A3 HGNC COPS5 10987 genome.wustl.edu 37 8 67968821 67968821 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 67968821 67968821 C T SNP COPS5 ENST00000357849 human ensembl 70_37 -1 known missense c.592 p.E198K 1.000 NULL pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors COPS5 HGNC CPEB2 132864 genome.wustl.edu 37 4 15004565 15004565 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 15004565 15004565 C T SNP CPEB2 ENST00000538197 human ensembl 70_37 +1 known nonsense c.268 p.Q90* 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB2 HGNC CRELD1 78987 genome.wustl.edu 37 3 9984502 9984502 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 9984502 9984502 G C SNP CRELD1 ENST00000326434 human ensembl 70_37 +1 known missense c.739 p.D247H 0.998 pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_EGF-like_Ca-bd pfam_DUF3456,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_Furin_repeat,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors CRELD1 HGNC CROCCP3 114819 genome.wustl.edu 37 1 16804831 16804831 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 16804831 16804831 C T SNP CROCCP3 ENST00000263511 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CROCCP3 HGNC CROCCP3 114819 genome.wustl.edu 37 1 16809787 16809787 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 16809787 16809787 C G SNP CROCCP3 ENST00000263511 human ensembl 70_37 -1 known rna NULL NULL 0.997 - - - no_errors CROCCP3 HGNC CSNK1D 1453 genome.wustl.edu 37 17 80209270 80209270 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 80209270 80209270 C A SNP CSNK1D ENST00000314028 human ensembl 70_37 -1 known missense c.870 p.W290C 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CSNK1D HGNC CSPG5 10675 genome.wustl.edu 37 3 47619161 47619161 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 47619161 47619161 C T SNP CSPG5 ENST00000383738 human ensembl 70_37 -1 known missense c.355 p.D119N 0.997 pfam_Chon_Sulph_att pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt - no_errors CSPG5 HGNC CTNS 1497 genome.wustl.edu 37 17 3552207 3552207 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 3552207 3552207 C T SNP CTNS ENST00000381870 human ensembl 70_37 +1 known silent c.207 p.I69 0.999 NULL smart_CTNS,tigrfam_LC_transporter - no_errors CTNS HGNC CTPS2 56474 genome.wustl.edu 37 X 16701275 16701275 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 16701275 16701275 G A SNP CTPS2 ENST00000359276 human ensembl 70_37 -1 known missense c.947 p.S316F 0.995 pfam_GATASE_1,tigrfam_CTP_synthase pfam_CTP_synthase_N,pfam_GATASE_1,pfam_Peptidase_C26,tigrfam_CTP_synthase - no_errors CTPS2 HGNC CTSB 1508 genome.wustl.edu 37 8 11704595 11704595 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 11704595 11704595 G A SNP CTSB ENST00000353047 human ensembl 70_37 -1 known silent c.759 p.F253 0.518 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Propeptide_C1A,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSB HGNC CUL1 8454 genome.wustl.edu 37 7 148454089 148454089 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 148454089 148454089 G A SNP CUL1 ENST00000325222 human ensembl 70_37 +1 known silent c.330 p.L110 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL1 HGNC CUL2 8453 genome.wustl.edu 37 10 35338621 35338621 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 35338621 35338621 C G SNP CUL2 ENST00000537177 human ensembl 70_37 -1 known missense c.553 p.E185Q 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL2 HGNC CUL4A 8451 genome.wustl.edu 37 13 113893808 113893808 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 113893808 113893808 C T SNP CUL4A ENST00000375440 human ensembl 70_37 +1 known silent c.978 p.F326 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4A HGNC CUX1 1523 genome.wustl.edu 37 7 101882709 101882709 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 101882709 101882709 G A SNP CUX1 ENST00000360264 human ensembl 70_37 +1 known silent c.3765 p.L1255 0.999 superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC CXorf21 80231 genome.wustl.edu 37 X 30577856 30577856 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 30577856 30577856 G A SNP CXorf21 ENST00000378962 human ensembl 70_37 -1 known missense c.617 p.S206F 1.000 NULL NULL - no_errors CXorf21 HGNC CYBB 1536 genome.wustl.edu 37 X 37663271 37663271 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 37663271 37663271 G A SNP CYBB ENST00000378588 human ensembl 70_37 +1 known missense c.1039 p.E347K 1.000 pfam_FAD-bd_8,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors CYBB HGNC CYP11A1 1583 genome.wustl.edu 37 15 74630959 74630959 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 74630959 74630959 G A SNP CYP11A1 ENST00000268053 human ensembl 70_37 -1 known silent c.1387 p.L463 0.034 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_mitochondrial,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP11A1 HGNC CYP4A11 1579 genome.wustl.edu 37 1 47395691 47395691 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 47395691 47395691 G A SNP CYP4A11 ENST00000462347 human ensembl 70_37 -1 known rna NULL NULL 0.009 - - - no_errors CYP4A11 HGNC DAAM1 23002 genome.wustl.edu 37 14 59789712 59789712 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 59789712 59789712 C G SNP DAAM1 ENST00000351081 human ensembl 70_37 +1 known silent c.543 p.L181 1.000 pfam_Drf_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM1 HGNC DAAM2 23500 genome.wustl.edu 37 6 39835482 39835482 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 39835482 39835482 C T SNP DAAM2 ENST00000274867 human ensembl 70_37 +1 known missense c.625 p.R209C 1.000 pfam_Drf_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM2 HGNC DAPK3 1613 genome.wustl.edu 37 19 3964692 3964692 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 3964692 3964692 G C SNP DAPK3 ENST00000301264 human ensembl 70_37 -1 known silent c.360 p.L120 0.954 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,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_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DAPK3 HGNC DCAF7 10238 genome.wustl.edu 37 17 61666705 61666705 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 61666705 61666705 C G SNP DCAF7 ENST00000577702 human ensembl 70_37 +1 known rna NULL NULL 0.381 - - - no_errors DCAF7 HGNC DCK 1633 genome.wustl.edu 37 4 71888099 71888099 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 71888099 71888099 C T SNP DCK ENST00000286648 human ensembl 70_37 +1 known nonsense c.223 p.Q75* 1.000 NULL pfam_Deoxynucleoside_kinase - no_errors DCK HGNC DCLRE1A 9937 genome.wustl.edu 37 10 115610113 115610113 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 115610113 115610113 G A SNP DCLRE1A ENST00000361384 human ensembl 70_37 -1 known missense c.751 p.H251Y 0.049 NULL pfam_DRMBL - no_errors DCLRE1A HGNC DCP1A 55802 genome.wustl.edu 37 3 53321417 53321417 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 53321417 53321417 C T SNP DCP1A ENST00000294241 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors DCP1A HGNC DCTN1 1639 genome.wustl.edu 37 2 74604805 74604805 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 74604805 74604805 C T SNP DCTN1 ENST00000361874 human ensembl 70_37 -1 known missense c.328 p.D110N 1.000 superfamily_CAP-Gly_domain pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,pfscan_CAP-Gly_domain - no_errors DCTN1 HGNC DDR2 4921 genome.wustl.edu 37 1 162725511 162725511 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 162725511 162725511 C A SNP DDR2 ENST00000367921 human ensembl 70_37 +1 known missense c.623 p.S208Y 0.964 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC DDX39B 7919 genome.wustl.edu 37 6 31506809 31506809 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 31506809 31506809 G C SNP DDX39B ENST00000449074 human ensembl 70_37 -1 known missense c.367 p.L123V 0.003 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX39B HGNC DENND1B 163486 genome.wustl.edu 37 1 197552366 197552366 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 197552366 197552366 G C SNP DENND1B ENST00000367396 human ensembl 70_37 -1 known missense c.1065 p.F355L 1.000 pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1B HGNC DERL3 91319 genome.wustl.edu 37 22 24180753 24180753 + Missense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 24180753 24180753 G T SNP DERL3 ENST00000318109 human ensembl 70_37 -1 known missense c.231 p.F77L 1.000 pfam_DER1 pfam_DER1 - no_errors DERL3 HGNC DMD 1756 genome.wustl.edu 37 X 32380950 32380950 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 32380950 32380950 G C SNP DMD ENST00000357033 human ensembl 70_37 -1 known silent c.5280 p.L1760 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC DMKN 93099 genome.wustl.edu 37 19 35989789 35989789 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 35989789 35989789 G A SNP DMKN ENST00000339686 human ensembl 70_37 -1 known missense c.1370 p.S457L 0.001 NULL NULL - no_errors DMKN HGNC DNAH11 8701 genome.wustl.edu 37 7 21901510 21901510 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 21901510 21901510 G A SNP DNAH11 ENST00000328843 human ensembl 70_37 +1 known missense c.11263 p.D3755N 0.931 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC DNAH17 8632 genome.wustl.edu 37 17 76501392 76501392 + Missense_Mutation SNP A A T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 76501392 76501392 A T SNP DNAH17 ENST00000389840 human ensembl 70_37 -1 known missense c.4927 p.C1643S 0.993 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC DNAH3 55567 genome.wustl.edu 37 16 20975107 20975107 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 20975107 20975107 C G SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known missense c.10099 p.E3367Q 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC DNAH7 56171 genome.wustl.edu 37 2 196849388 196849388 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 196849388 196849388 G A SNP DNAH7 ENST00000312428 human ensembl 70_37 -1 known missense c.1801 p.P601S 0.997 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC DNAJB2 3300 genome.wustl.edu 37 2 220147867 220147867 + Nonsense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 220147867 220147867 C A SNP DNAJB2 ENST00000336576 human ensembl 70_37 +1 known nonsense c.458 p.S153* 0.987 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB2 HGNC DNAJC6 9829 genome.wustl.edu 37 1 65775468 65775468 + Missense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 65775468 65775468 G T SNP DNAJC6 ENST00000371069 human ensembl 70_37 +1 known missense c.40 p.D14Y 1.000 NULL pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DnaJ_N,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N - no_errors DNAJC6 HGNC DNAJC8 22826 genome.wustl.edu 37 1 28530314 28530314 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 28530314 28530314 C T SNP DNAJC8 ENST00000263697 human ensembl 70_37 -1 known missense c.583 p.E195K 1.000 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC8 HGNC DNM2 1785 genome.wustl.edu 37 19 10922966 10922966 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 10922966 10922966 C G SNP DNM2 ENST00000314646 human ensembl 70_37 +1 known missense c.1584 p.I528M 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin - no_errors DNM2 HGNC DOCK1 1793 genome.wustl.edu 37 10 129055717 129055717 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 129055717 129055717 C T SNP DOCK1 ENST00000495574 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DOCK1 HGNC DOPEY2 9980 genome.wustl.edu 37 21 37591770 37591770 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 21 37591770 37591770 G C SNP DOPEY2 ENST00000399151 human ensembl 70_37 +1 known missense c.1230 p.Q410H 1.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC DPH2 1802 genome.wustl.edu 37 1 44437211 44437211 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 44437211 44437211 G C SNP DPH2 ENST00000255108 human ensembl 70_37 +1 known missense c.637 p.E213Q 1.000 pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu - no_errors DPH2 HGNC DROSHA 29102 genome.wustl.edu 37 5 31466361 31466361 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 31466361 31466361 C T SNP DROSHA ENST00000344624 human ensembl 70_37 -1 known silent c.2394 p.V798 1.000 NULL pfam_RNase_III_dom,pfam_Ds-RNA-bd,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom - no_errors DROSHA HGNC DSCAML1 57453 genome.wustl.edu 37 11 117342593 117342593 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 117342593 117342593 C T SNP DSCAML1 ENST00000321322 human ensembl 70_37 -1 known missense c.3124 p.E1042K 0.997 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAML1 HGNC DSEL 92126 genome.wustl.edu 37 18 65178784 65178784 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 65178784 65178784 C G SNP DSEL ENST00000310045 human ensembl 70_37 -1 known missense c.3092 p.G1031A 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas - no_errors DSEL HGNC DSEL 92126 genome.wustl.edu 37 18 65178899 65178899 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 65178899 65178899 C T SNP DSEL ENST00000310045 human ensembl 70_37 -1 known missense c.2977 p.E993K 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas - no_errors DSEL HGNC DSP 1832 genome.wustl.edu 37 6 7566688 7566688 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 7566688 7566688 C G SNP DSP ENST00000379802 human ensembl 70_37 +1 known missense c.1018 p.Q340E 1.000 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC DST 667 genome.wustl.edu 37 6 56443711 56443711 + Nonsense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 56443711 56443711 G A SNP DST ENST00000370754 human ensembl 70_37 -1 known nonsense c.12835 p.Q4279* 1.000 pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC DUOX1 53905 genome.wustl.edu 37 15 45444103 45444103 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 45444103 45444103 G A SNP DUOX1 ENST00000321429 human ensembl 70_37 +1 known missense c.3046 p.E1016K 0.998 NULL pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC DYNC2H1 79659 genome.wustl.edu 37 11 103128387 103128387 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 103128387 103128387 C G SNP DYNC2H1 ENST00000398093 human ensembl 70_37 +1 known missense c.10533 p.F3511L 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC DYTN 391475 genome.wustl.edu 37 2 207575289 207575289 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 207575289 207575289 C T SNP DYTN ENST00000452335 human ensembl 70_37 -1 known missense c.53 p.R18K 1.000 pfam_EF-hand_dom_typ1 pfam_EF-hand_dom_typ2,pfam_EF-hand_dom_typ1,pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ - no_errors DYTN HGNC EBF4 57593 genome.wustl.edu 37 20 2686378 2686378 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 2686378 2686378 G A SNP EBF4 ENST00000449079 human ensembl 70_37 +1 known missense c.593 p.R198Q 1.000 NULL pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt - no_errors EBF4 HGNC EBNA1BP2 10969 genome.wustl.edu 37 1 43637890 43637890 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 43637890 43637890 C T SNP EBNA1BP2 ENST00000472982 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors EBNA1BP2 HGNC EEA1 8411 genome.wustl.edu 37 12 93213230 93213230 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 93213230 93213230 G A SNP EEA1 ENST00000322349 human ensembl 70_37 -1 known missense c.1582 p.L528F 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC EFCAB5 374786 genome.wustl.edu 37 17 28380537 28380537 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 28380537 28380537 C T SNP EFCAB5 ENST00000394835 human ensembl 70_37 +1 known missense c.1565 p.S522L 0.001 NULL pfscan_EF_HAND_2 - no_errors EFCAB5 HGNC EFCAB6 64800 genome.wustl.edu 37 22 43950824 43950824 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 43950824 43950824 C T SNP EFCAB6 ENST00000262726 human ensembl 70_37 -1 known missense c.3573 p.M1191I 0.000 smart_EF_hand_Ca-bd pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFCAB6 HGNC EHD2 30846 genome.wustl.edu 37 19 48244575 48244575 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 48244575 48244575 C T SNP EHD2 ENST00000263277 human ensembl 70_37 +1 known silent c.1518 p.F506 0.998 smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD2 HGNC EIF2AK2 5610 genome.wustl.edu 37 2 37334416 37334416 + Nonstop_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 37334416 37334416 C G SNP EIF2AK2 ENST00000233057 human ensembl 70_37 -1 known nonstop c.1656 p.*552Y 0.634 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ds-RNA-bd,superfamily_Kinase-like_dom,smart_Ds-RNA-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ds-RNA-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EIF2AK2 HGNC EIF2B2 8892 genome.wustl.edu 37 14 75469825 75469825 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 75469825 75469825 G C SNP EIF2B2 ENST00000266126 human ensembl 70_37 +1 known missense c.132 p.Q44H 0.997 pfam_IF-2B-related pfam_IF-2B-related - no_errors EIF2B2 HGNC AGO4 192670 genome.wustl.edu 37 1 36282575 36282575 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 36282575 36282575 C A SNP EIF2C4 ENST00000373210 human ensembl 70_37 +1 known missense c.112 p.Q38K 1.000 superfamily_PAZ pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C4 HGNC EIF4G3 8672 genome.wustl.edu 37 1 21175937 21175937 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 21175937 21175937 C A SNP EIF4G3 ENST00000374937 human ensembl 70_37 -1 known missense c.3709 p.D1237Y 1.000 pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC EIF5AL1 143244 genome.wustl.edu 37 10 81272814 81272814 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 81272814 81272814 G C SNP EIF5AL1 ENST00000520547 human ensembl 70_37 +1 known missense c.409 p.V137L 1.000 pfam_Transl_elong_IF5A_C,superfamily_NA-bd_OB-fold-like,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A pfam_Transl_elong_IF5A_C,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold-like,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A - no_errors EIF5AL1 HGNC ELF3 1999 genome.wustl.edu 37 1 201984418 201984418 + Nonsense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 201984418 201984418 G A SNP ELF3 ENST00000359651 human ensembl 70_37 +1 known nonsense c.1083 p.W361* 1.000 NULL pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets - no_errors ELF3 HGNC ELK1 2002 genome.wustl.edu 37 X 47496289 47496289 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 47496289 47496289 G A SNP ELK1 ENST00000247161 human ensembl 70_37 -1 known missense c.1226 p.S409F 1.000 NULL pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ELK1 HGNC ENSG00000116883 0 genome.wustl.edu 37 1 36793686 36793686 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 36793686 36793686 C T SNP ENSG00000116883 ENST00000373137 human ensembl 70_37 +1 known silent c.252 p.F84 0.092 NULL NULL - no_errors AL591845.1 Clone_based_ensembl_gene ENSG00000175773 0 genome.wustl.edu 37 11 130271838 130271838 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 130271838 130271838 C G SNP ENSG00000175773 ENST00000318117 human ensembl 70_37 +1 known rna NULL NULL 0.195 - - - no_errors RP11-121M22.1 Clone_based_vega_gene ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 64362 64362 + Silent SNP A A G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 GL000212.1 64362 64362 A G SNP ENSG00000212857 ENST00000391545 human ensembl 70_37 +1 known silent c.111 p.T37 NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000214432 0 genome.wustl.edu 37 15 91579217 91579217 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 91579217 91579217 C G SNP ENSG00000214432 ENST00000557804 human ensembl 70_37 +1 known rna NULL NULL 0.056 - - - no_errors AC068831.10 Clone_based_vega_gene ENSG00000219016 0 genome.wustl.edu 37 22 48940540 48940540 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 48940540 48940540 C T SNP ENSG00000219016 ENST00000407505 human ensembl 70_37 -1 putative missense c.269 p.G90E 0.002 NULL NULL - no_errors CTA-299D3.8 Clone_based_vega_gene ENSG00000221336 0 genome.wustl.edu 37 6 140981775 140981775 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 140981775 140981775 G C SNP ENSG00000221336 ENST00000408409 human ensembl 70_37 -1 novel rna NULL NULL 0.002 - - - no_errors AL356137.1 Clone_based_ensembl_gene ENSG00000226668 0 genome.wustl.edu 37 9 95645049 95645049 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 95645049 95645049 C G SNP ENSG00000226668 ENST00000411450 human ensembl 70_37 +1 known rna NULL NULL 0.028 - - - no_errors RP11-526D8.7 Clone_based_vega_gene ENSG00000228157 0 genome.wustl.edu 37 17 18996795 18996795 + Nonsense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 18996795 18996795 G T SNP ENSG00000228157 ENST00000428928 human ensembl 70_37 +1 known nonsense c.133 p.E45* 0.019 NULL NULL - no_errors AC007952.5 Clone_based_vega_gene ENSG00000236662 0 genome.wustl.edu 37 10 102745327 102745327 + RNA SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 102745327 102745327 C A SNP ENSG00000236662 ENST00000447344 human ensembl 70_37 -1 putative rna NULL NULL 0.986 - - - no_errors RP11-108L7.4 Clone_based_vega_gene ENSG00000237452 0 genome.wustl.edu 37 19 46238634 46238634 + Splice_Site SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 46238634 46238634 G A SNP ENSG00000237452 ENST00000457052 human ensembl 70_37 +1 putative splice_site c.1-1 e1-1 1.000 - - - no_errors AC074212.3 Clone_based_vega_gene ENSG00000242663 0 genome.wustl.edu 37 1 149754599 149754599 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 149754599 149754599 G C SNP ENSG00000242663 ENST00000420462 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors RP11-196G18.21 Clone_based_vega_gene ENSG00000244056 0 genome.wustl.edu 37 15 84948780 84948780 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 84948780 84948780 G A SNP ENSG00000244056 ENST00000459938 human ensembl 70_37 +1 novel rna NULL NULL 0.050 - - - no_errors Metazoa_SRP RFAM ENSG00000245156 0 genome.wustl.edu 37 11 66039436 66039436 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 66039436 66039436 G C SNP ENSG00000245156 ENST00000501708 human ensembl 70_37 -1 known rna NULL NULL 0.118 - - - no_errors RP11-867G23.3 Clone_based_vega_gene ENSG00000249007 0 genome.wustl.edu 37 1 201984155 201984155 + RNA SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 201984155 201984155 G T SNP ENSG00000249007 ENST00000504773 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors RP11-510N19.5 Clone_based_vega_gene ENSG00000249825 0 genome.wustl.edu 37 5 79375955 79375955 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 79375955 79375955 C T SNP ENSG00000249825 ENST00000503007 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors CTD-2201I18.1 Clone_based_vega_gene ENSG00000255384 0 genome.wustl.edu 37 11 118305488 118305488 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 118305488 118305488 C G SNP ENSG00000255384 ENST00000532619 human ensembl 70_37 -1 putative missense c.333 p.Q111H 1.000 NULL NULL - no_errors RP11-770J1.4 Clone_based_vega_gene ENSG00000255487 0 genome.wustl.edu 37 8 38134046 38134046 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 38134046 38134046 C G SNP ENSG00000255487 ENST00000529325 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-513D5.5 Clone_based_vega_gene ENSG00000255532 0 genome.wustl.edu 37 11 49401207 49401207 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 49401207 49401207 C G SNP ENSG00000255532 ENST00000529081 human ensembl 70_37 +1 known rna NULL NULL 0.040 - - - no_errors CTD-2026G22.1 Clone_based_vega_gene ENSG00000258086 0 genome.wustl.edu 37 12 54801257 54801257 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 54801257 54801257 G A SNP ENSG00000258086 ENST00000552785 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-753H16.5 Clone_based_vega_gene ENSG00000259964 0 genome.wustl.edu 37 15 71479889 71479889 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 71479889 71479889 G C SNP ENSG00000259964 ENST00000562634 human ensembl 70_37 -1 known rna NULL NULL 0.980 - - - no_errors RP11-673C5.2 Clone_based_vega_gene ENSG00000259964 0 genome.wustl.edu 37 15 71479913 71479913 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 71479913 71479913 G A SNP ENSG00000259964 ENST00000562634 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-673C5.2 Clone_based_vega_gene ENSG00000259964 0 genome.wustl.edu 37 15 71479919 71479919 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 71479919 71479919 G A SNP ENSG00000259964 ENST00000562634 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-673C5.2 Clone_based_vega_gene ENSG00000260175 0 genome.wustl.edu 37 14 23744826 23744826 + Missense_Mutation SNP T T A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 23744826 23744826 T A SNP ENSG00000260175 ENST00000431326 human ensembl 70_37 -1 known missense c.1617 p.E539D 0.151 NULL superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors RP11-124D2.6 Clone_based_vega_gene ENSG00000260175 0 genome.wustl.edu 37 14 23744829 23744829 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 23744829 23744829 C T SNP ENSG00000260175 ENST00000431326 human ensembl 70_37 -1 known silent c.1614 p.E538 0.005 NULL superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors RP11-124D2.6 Clone_based_vega_gene ENSG00000260267 0 genome.wustl.edu 37 16 31470702 31470702 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 31470702 31470702 C G SNP ENSG00000260267 ENST00000564629 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-452L6.5 Clone_based_vega_gene ENSG00000261064 0 genome.wustl.edu 37 15 32878265 32878265 + RNA SNP A A G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 32878265 32878265 A G SNP ENSG00000261064 ENST00000564670 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-1000B6.3 Clone_based_vega_gene ENSG00000261575 0 genome.wustl.edu 37 17 44344668 44344668 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 44344668 44344668 C T SNP ENSG00000261575 ENST00000570002 human ensembl 70_37 +1 known rna NULL NULL 0.215 - - - no_errors RP11-259G18.1 Clone_based_vega_gene ENSG00000265784 0 genome.wustl.edu 37 17 37077979 37077979 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 37077979 37077979 C G SNP ENSG00000265784 ENST00000580121 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP1-56K13.3 Clone_based_vega_gene ENSG00000267943 0 genome.wustl.edu 37 19 53513487 53513487 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 53513487 53513487 G C SNP ENSG00000267943 ENST00000596769 human ensembl 70_37 +1 known rna NULL NULL 0.671 - - - no_errors CTD-2620I22.3 Clone_based_vega_gene ENSG00000267943 0 genome.wustl.edu 37 19 53514118 53514118 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 53514118 53514118 C T SNP ENSG00000267943 ENST00000596769 human ensembl 70_37 +1 known rna NULL NULL 0.080 - - - no_errors CTD-2620I22.3 Clone_based_vega_gene EP400NL 347918 genome.wustl.edu 37 12 132589042 132589042 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 132589042 132589042 C T SNP EP400NL ENST00000376625 human ensembl 70_37 +1 known silent c.477 p.F159 0.999 NULL NULL - no_errors EP400NL HGNC EPSTI1 94240 genome.wustl.edu 37 13 43462600 43462600 + Nonsense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 43462600 43462600 G C SNP EPSTI1 ENST00000313640 human ensembl 70_37 -1 known nonsense c.1019 p.S340* 0.586 NULL NULL - no_errors EPSTI1 HGNC ERBB2 2064 genome.wustl.edu 37 17 37866407 37866407 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 37866407 37866407 G A SNP ERBB2 ENST00000269571 human ensembl 70_37 +1 known missense c.712 p.E238K 1.000 pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB2 HGNC ERBB2IP 55914 genome.wustl.edu 37 5 65342187 65342187 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 65342187 65342187 G A SNP ERBB2IP ENST00000284037 human ensembl 70_37 +1 known missense c.1609 p.E537K 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ERF 2077 genome.wustl.edu 37 19 42753654 42753654 + Missense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 42753654 42753654 G T SNP ERF ENST00000222329 human ensembl 70_37 -1 known missense c.610 p.P204T 0.603 NULL pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ERF HGNC ERGIC1 57222 genome.wustl.edu 37 5 172324903 172324903 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 172324903 172324903 C T SNP ERGIC1 ENST00000519860 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ERGIC1 HGNC ERGIC1 57222 genome.wustl.edu 37 5 172324910 172324910 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 172324910 172324910 C T SNP ERGIC1 ENST00000519860 human ensembl 70_37 +1 known rna NULL NULL 0.955 - - - no_errors ERGIC1 HGNC ESRRG 2104 genome.wustl.edu 37 1 216896629 216896629 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 216896629 216896629 C G SNP ESRRG ENST00000408911 human ensembl 70_37 -1 known missense c.13 p.E5Q 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors ESRRG HGNC EXOC6B 23233 genome.wustl.edu 37 2 72719498 72719498 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 72719498 72719498 C G SNP EXOC6B ENST00000272427 human ensembl 70_37 -1 known silent c.1614 p.L538 0.992 pfam_Sec15,pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6B HGNC EZH2 2146 genome.wustl.edu 37 7 148513787 148513787 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 148513787 148513787 C T SNP EZH2 ENST00000320356 human ensembl 70_37 -1 known silent c.1494 p.K498 0.945 NULL pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH2 HGNC FAAH 2166 genome.wustl.edu 37 1 46877860 46877860 + Missense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 46877860 46877860 G T SNP FAAH ENST00000243167 human ensembl 70_37 +1 known missense c.1402 p.D468Y 1.000 pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun - no_errors FAAH HGNC FADS6 283985 genome.wustl.edu 37 17 72878727 72878727 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 72878727 72878727 G A SNP FADS6 ENST00000310226 human ensembl 70_37 -1 known silent c.471 p.L157 1.000 pfam_Fatty_acid_desaturase-1 pfam_Fatty_acid_desaturase-1 - no_errors FADS6 HGNC FAM111A 63901 genome.wustl.edu 37 11 58920435 58920435 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 58920435 58920435 G C SNP FAM111A ENST00000361723 human ensembl 70_37 +1 known missense c.1294 p.E432Q 0.998 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like - no_errors FAM111A HGNC FAM117A 81558 genome.wustl.edu 37 17 47795077 47795077 + Splice_Site SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 47795077 47795077 C T SNP FAM117A ENST00000240364 human ensembl 70_37 -1 known splice_site c.709-1 e6-1 1.000 - - - no_errors FAM117A HGNC MVB12B 89853 genome.wustl.edu 37 9 129269251 129269251 + RNA SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 129269251 129269251 G T SNP FAM125B ENST00000485886 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors FAM125B HGNC FAM149A 25854 genome.wustl.edu 37 4 187073141 187073141 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 187073141 187073141 C G SNP FAM149A ENST00000356371 human ensembl 70_37 +1 known missense c.901 p.Q301E 0.993 pfam_DUF3719 pfam_DUF3719 - no_errors FAM149A HGNC FAM160A2 84067 genome.wustl.edu 37 11 6232577 6232577 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 6232577 6232577 G C SNP FAM160A2 ENST00000529360 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors FAM160A2 HGNC FAM174A 345757 genome.wustl.edu 37 5 99871472 99871472 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 99871472 99871472 G A SNP FAM174A ENST00000312637 human ensembl 70_37 +1 known missense c.238 p.E80K 0.009 pfam_DUF1180 pfam_DUF1180 - no_errors FAM174A HGNC FAM182B 728882 genome.wustl.edu 37 20 25848857 25848857 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 25848857 25848857 C G SNP FAM182B ENST00000582267 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors FAM182B HGNC FAM186A 121006 genome.wustl.edu 37 12 50745835 50745835 + Nonsense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 50745835 50745835 G A SNP FAM186A ENST00000327337 human ensembl 70_37 -1 known nonsense c.4780 p.Q1594* 0.000 NULL NULL - no_errors FAM186A HGNC FAM188B2 646951 genome.wustl.edu 37 3 150591062 150591062 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 150591062 150591062 G A SNP FAM188B2 ENST00000397891 human ensembl 70_37 -1 known silent c.840 p.L280 0.998 NULL NULL - no_errors FAM188B2 HGNC FAM194B 220081 genome.wustl.edu 37 13 46161347 46161347 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 46161347 46161347 G C SNP FAM194B ENST00000298738 human ensembl 70_37 -1 known missense c.707 p.S236C 0.002 NULL NULL - no_errors FAM194B HGNC FAM200B 285550 genome.wustl.edu 37 4 15690878 15690878 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 15690878 15690878 G C SNP FAM200B ENST00000504137 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM200B HGNC FAM210B 116151 genome.wustl.edu 37 20 54941154 54941154 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 54941154 54941154 G A SNP FAM210B ENST00000371384 human ensembl 70_37 +1 known silent c.390 p.L130 0.734 pfam_DUF1279 pfam_DUF1279 - no_errors FAM210B HGNC FAM214A 56204 genome.wustl.edu 37 15 52877050 52877050 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 52877050 52877050 C T SNP FAM214A ENST00000261844 human ensembl 70_37 -1 known missense c.2969 p.R990Q 1.000 NULL NULL - no_errors FAM214A HGNC NUTM2G 441457 genome.wustl.edu 37 9 99700769 99700769 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 99700769 99700769 G C SNP FAM22G ENST00000372322 human ensembl 70_37 +1 known missense c.1564 p.E522Q 0.001 NULL NULL - no_errors FAM22G HGNC NUTM2G 441457 genome.wustl.edu 37 9 99700851 99700851 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 99700851 99700851 G C SNP FAM22G ENST00000372322 human ensembl 70_37 +1 known missense c.1646 p.R549T 0.000 NULL NULL - no_errors FAM22G HGNC FAM46B 115572 genome.wustl.edu 37 1 27332978 27332978 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 27332978 27332978 G A SNP FAM46B ENST00000289166 human ensembl 70_37 -1 known silent c.735 p.V245 0.221 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46B HGNC FAP 2191 genome.wustl.edu 37 2 163031423 163031423 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 163031423 163031423 G A SNP FAP ENST00000188790 human ensembl 70_37 -1 known silent c.1923 p.F641 1.000 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors FAP HGNC FAP 2191 genome.wustl.edu 37 2 163045640 163045640 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 163045640 163045640 G A SNP FAP ENST00000188790 human ensembl 70_37 -1 known missense c.1592 p.S531L 1.000 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors FAP HGNC FAT3 120114 genome.wustl.edu 37 11 92624271 92624271 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 92624271 92624271 C G SNP FAT3 ENST00000298047 human ensembl 70_37 +1 known missense c.13762 p.Q4588E 1.000 NULL 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 FBXL3 26224 genome.wustl.edu 37 13 77581724 77581724 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 77581724 77581724 G A SNP FBXL3 ENST00000355619 human ensembl 70_37 -1 known silent c.843 p.I281 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like - no_errors FBXL3 HGNC FBXO34 55030 genome.wustl.edu 37 14 55818718 55818718 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 55818718 55818718 C T SNP FBXO34 ENST00000313833 human ensembl 70_37 +1 known missense c.1610 p.S537F 0.000 NULL superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO34 HGNC FBXO40 51725 genome.wustl.edu 37 3 121340763 121340763 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 121340763 121340763 G A SNP FBXO40 ENST00000338040 human ensembl 70_37 +1 known missense c.487 p.E163K 0.022 NULL superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF - no_errors FBXO40 HGNC FCGBP 8857 genome.wustl.edu 37 19 40398400 40398400 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 40398400 40398400 G A SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known silent c.6567 p.F2189 0.995 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC FCGR1A 2209 genome.wustl.edu 37 1 149755775 149755775 + Nonsense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 149755775 149755775 C G SNP FCGR1A ENST00000369168 human ensembl 70_37 +1 known nonsense c.269 p.S90* 0.186 smart_Ig_sub,smart_Ig_sub2 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCGR1A HGNC FCGR2A 2212 genome.wustl.edu 37 1 161479734 161479734 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 161479734 161479734 G C SNP FCGR2A ENST00000271450 human ensembl 70_37 +1 known missense c.489 p.Q163H 0.005 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCGR2A HGNC FCRL1 115350 genome.wustl.edu 37 1 157776818 157776818 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 157776818 157776818 C T SNP FCRL1 ENST00000480310 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors FCRL1 HGNC FER1L6 654463 genome.wustl.edu 37 8 125078704 125078704 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 125078704 125078704 G A SNP FER1L6 ENST00000399018 human ensembl 70_37 +1 known silent c.3591 p.R1197 0.357 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors FER1L6 HGNC FEZF2 55079 genome.wustl.edu 37 3 62358300 62358300 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 62358300 62358300 C T SNP FEZF2 ENST00000283268 human ensembl 70_37 -1 known missense c.244 p.E82K 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF2 HGNC FGA 2243 genome.wustl.edu 37 4 155505632 155505632 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 155505632 155505632 C T SNP FGA ENST00000302053 human ensembl 70_37 -1 known missense c.2245 p.E749K 0.993 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FGA HGNC FGF14 2259 genome.wustl.edu 37 13 102568803 102568803 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 102568803 102568803 C A SNP FGF14 ENST00000376143 human ensembl 70_37 -1 known missense c.193 p.D65Y 1.000 NULL pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF14 HGNC FGF5 2250 genome.wustl.edu 37 4 81208212 81208212 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 81208212 81208212 G C SNP FGF5 ENST00000503413 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors FGF5 HGNC FHIT 2272 genome.wustl.edu 37 3 59737842 59737842 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 59737842 59737842 C T SNP FHIT ENST00000466788 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FHIT HGNC FILIP1 27145 genome.wustl.edu 37 6 76023430 76023430 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 76023430 76023430 C T SNP FILIP1 ENST00000237172 human ensembl 70_37 -1 known silent c.2118 p.L706 1.000 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC FILIP1L 11259 genome.wustl.edu 37 3 99567922 99567922 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 99567922 99567922 C T SNP FILIP1L ENST00000354552 human ensembl 70_37 -1 known missense c.2598 p.M866I 1.000 NULL pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC KIF9-AS1 285352 genome.wustl.edu 37 3 47281584 47281584 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 47281584 47281584 G C SNP FLJ39534 ENST00000429315 human ensembl 70_37 +1 known rna NULL NULL 0.013 - - - no_errors RP11-447D11.2 Clone_based_vega_gene LINC00982 440556 genome.wustl.edu 37 1 2979482 2979482 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 2979482 2979482 C T SNP FLJ42875 ENST00000321399 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP1-163G9.1 Clone_based_vega_gene FMN1 342184 genome.wustl.edu 37 15 33359498 33359498 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 33359498 33359498 C A SNP FMN1 ENST00000334528 human ensembl 70_37 -1 known missense c.588 p.M196I 0.000 NULL pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,prints_Formin - no_errors FMN1 HGNC FNDC1 84624 genome.wustl.edu 37 6 159653912 159653912 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 159653912 159653912 G A SNP FNDC1 ENST00000297267 human ensembl 70_37 +1 known missense c.2368 p.G790S 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC FOXI1 2299 genome.wustl.edu 37 5 169533307 169533307 + Nonsense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 169533307 169533307 G T SNP FOXI1 ENST00000306268 human ensembl 70_37 +1 known nonsense c.346 p.E116* 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXI1 HGNC FRMD5 84978 genome.wustl.edu 37 15 44202144 44202144 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 44202144 44202144 G C SNP FRMD5 ENST00000417257 human ensembl 70_37 -1 known silent c.363 p.L121 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain - no_errors FRMD5 HGNC FRMD6 122786 genome.wustl.edu 37 14 52174875 52174875 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 52174875 52174875 C G SNP FRMD6 ENST00000344768 human ensembl 70_37 +1 known missense c.638 p.S213C 0.999 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD6 HGNC FSIP2 401024 genome.wustl.edu 37 2 186657507 186657507 + Nonsense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 186657507 186657507 G T SNP FSIP2 ENST00000343098 human ensembl 70_37 +1 known nonsense c.5911 p.E1971* 0.003 NULL NULL - no_errors FSIP2 HGNC FZD3 7976 genome.wustl.edu 37 8 28385334 28385334 + Nonsense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 28385334 28385334 G T SNP FZD3 ENST00000240093 human ensembl 70_37 +1 known nonsense c.1057 p.E353* 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD3 HGNC G6PC 2538 genome.wustl.edu 37 17 41061433 41061433 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 41061433 41061433 C T SNP G6PC ENST00000253801 human ensembl 70_37 +1 known missense c.560 p.S187L 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase - no_errors G6PC HGNC GAB4 128954 genome.wustl.edu 37 22 17444720 17444720 + Splice_Site SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 17444720 17444720 C T SNP GAB4 ENST00000400588 human ensembl 70_37 -1 known splice_site c.1477-1 e9-1 1.000 - - - no_errors GAB4 HGNC GABBR1 2550 genome.wustl.edu 37 6 29591239 29591239 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 29591239 29591239 G C SNP GABBR1 ENST00000377034 human ensembl 70_37 -1 known missense c.806 p.S269C 1.000 pfam_ANF_lig-bd_rcpt,prints_GPCR_3_GABA_rcpt_B pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C - no_errors GABBR1 HGNC GALNT1 2589 genome.wustl.edu 37 18 33267010 33267010 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 33267010 33267010 G A SNP GALNT1 ENST00000269195 human ensembl 70_37 +1 known silent c.720 p.V240 0.999 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT1 HGNC GALT 2592 genome.wustl.edu 37 9 34649556 34649556 + Nonsense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 34649556 34649556 G T SNP GALT ENST00000378842 human ensembl 70_37 +1 known nonsense c.1054 p.E352* 1.000 pfam_GalP_Utransf_C,superfamily_HIT-like,pirsf_GalP_UDPtransf1,tigrfam_GalP_UDPtransf1 pfam_GalP_Utransf_N,pfam_GalP_Utransf_C,superfamily_HIT-like,pirsf_GalP_UDPtransf1,tigrfam_GalP_UDPtransf1 - no_errors GALT HGNC GAPVD1 26130 genome.wustl.edu 37 9 128112573 128112573 + Splice_Site SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 128112573 128112573 G C SNP GAPVD1 ENST00000394105 human ensembl 70_37 +1 known splice_site c.3381-1 e20-1 1.000 - - - no_errors GAPVD1 HGNC GAS2L2 246176 genome.wustl.edu 37 17 34074179 34074179 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 34074179 34074179 G A SNP GAS2L2 ENST00000254466 human ensembl 70_37 -1 known missense c.941 p.S314L 1.000 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L2 HGNC GAS6 2621 genome.wustl.edu 37 13 114549541 114549541 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 114549541 114549541 G C SNP GAS6 ENST00000357389 human ensembl 70_37 -1 known missense c.302 p.S101C 0.144 superfamily_GLA_domain pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC GATSL3 652968 genome.wustl.edu 37 22 30683473 30683473 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 30683473 30683473 C T SNP GATSL3 ENST00000407689 human ensembl 70_37 -1 known silent c.261 p.A87 0.000 NULL NULL - no_errors GATSL3 HGNC GGA3 23163 genome.wustl.edu 37 17 73236104 73236104 + Nonsense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 73236104 73236104 G T SNP GGA3 ENST00000245541 human ensembl 70_37 -1 known nonsense c.1349 p.S450* 0.025 NULL pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA3 HGNC GGA3 23163 genome.wustl.edu 37 17 73237521 73237521 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 73237521 73237521 G C SNP GGA3 ENST00000245541 human ensembl 70_37 -1 known missense c.906 p.I302M 1.000 NULL pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA3 HGNC GGCX 2677 genome.wustl.edu 37 2 85781368 85781368 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 85781368 85781368 C G SNP GGCX ENST00000233838 human ensembl 70_37 -1 known missense c.787 p.D263H 1.000 pfam_VKG_COase,smart_HTTM pfam_VKG_COase,superfamily_RmlC_Cupin,smart_HTTM - no_errors GGCX HGNC GGTA1P 2681 genome.wustl.edu 37 9 124241583 124241583 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 124241583 124241583 C G SNP GGTA1P ENST00000373793 human ensembl 70_37 -1 known rna NULL NULL 0.190 - - - no_errors GGTA1P HGNC GIMAP7 168537 genome.wustl.edu 37 7 150217069 150217069 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 150217069 150217069 G C SNP GIMAP7 ENST00000313543 human ensembl 70_37 +1 known missense c.7 p.E3Q 0.001 NULL pfam_AIG1 - no_errors GIMAP7 HGNC GJC1 10052 genome.wustl.edu 37 17 42882496 42882496 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 42882496 42882496 G C SNP GJC1 ENST00000330514 human ensembl 70_37 -1 known missense c.690 p.I230M 1.000 pfam_Connexin_CCC,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin45 - no_errors GJC1 HGNC GLB1L2 89944 genome.wustl.edu 37 11 134226237 134226237 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 134226237 134226237 G A SNP GLB1L2 ENST00000339772 human ensembl 70_37 +1 known missense c.601 p.E201K 1.000 pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,prints_Glycoside_Hdrlase_35 pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L2 HGNC GLG1 2734 genome.wustl.edu 37 16 74503973 74503973 + Splice_Site SNP T T A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 74503973 74503973 T A SNP GLG1 ENST00000205061 human ensembl 70_37 -1 known splice_site c.2230-2 e16-2 1.000 - - - no_errors GLG1 HGNC GLIS1 148979 genome.wustl.edu 37 1 53995600 53995600 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 53995600 53995600 G A SNP GLIS1 ENST00000312233 human ensembl 70_37 -1 known missense c.821 p.S274L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS1 HGNC GLRB 2743 genome.wustl.edu 37 4 158074128 158074128 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 158074128 158074128 G A SNP GLRB ENST00000264428 human ensembl 70_37 +1 known missense c.1163 p.G388E 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRB HGNC GOLGA2 2801 genome.wustl.edu 37 9 131023839 131023839 + Missense_Mutation SNP A A C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 131023839 131023839 A C SNP GOLGA2 ENST00000421699 human ensembl 70_37 -1 known missense c.1145 p.V382G 0.996 NULL superfamily_CofA_tubulin-bd - no_errors GOLGA2 HGNC GOLGA8I 283796 genome.wustl.edu 37 15 23265394 23265394 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 23265394 23265394 G A SNP GOLGA8I ENST00000450802 human ensembl 70_37 +1 known silent c.1737 p.V579 0.034 NULL NULL - no_errors GOLGA8I HGNC GPAA1 8733 genome.wustl.edu 37 8 145139176 145139176 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 145139176 145139176 C T SNP GPAA1 ENST00000355091 human ensembl 70_37 +1 known silent c.756 p.L252 1.000 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 - no_errors GPAA1 HGNC GPATCH3 63906 genome.wustl.edu 37 1 27223845 27223845 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 27223845 27223845 C G SNP GPATCH3 ENST00000361720 human ensembl 70_37 -1 known missense c.823 p.E275Q 0.100 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH3 HGNC GPR111 222611 genome.wustl.edu 37 6 47650408 47650408 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 47650408 47650408 G A SNP GPR111 ENST00000296862 human ensembl 70_37 +1 known missense c.2113 p.E705K 0.044 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR111 HGNC GPR111 222611 genome.wustl.edu 37 6 47650411 47650411 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 47650411 47650411 G A SNP GPR111 ENST00000296862 human ensembl 70_37 +1 known missense c.2116 p.D706N 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR111 HGNC GPR180 160897 genome.wustl.edu 37 13 95264620 95264620 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 95264620 95264620 G C SNP GPR180 ENST00000376958 human ensembl 70_37 +1 known missense c.481 p.D161H 0.997 pfam_Rhodopsin-like_GPCR_TM_domain,pfam_TM_rcpt_euk pfam_Rhodopsin-like_GPCR_TM_domain,pfam_TM_rcpt_euk - no_errors GPR180 HGNC GPR98 84059 genome.wustl.edu 37 5 90059175 90059175 + Missense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 90059175 90059175 G T SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.12174 p.L4058F 0.970 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC GPS1 2873 genome.wustl.edu 37 17 80011073 80011073 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 80011073 80011073 C T SNP GPS1 ENST00000584229 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors GPS1 HGNC GRIK3 2899 genome.wustl.edu 37 1 37337919 37337919 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 37337919 37337919 C T SNP GRIK3 ENST00000373091 human ensembl 70_37 -1 known missense c.602 p.R201H 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC GRIN3A 116443 genome.wustl.edu 37 9 104499571 104499571 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 104499571 104499571 C G SNP GRIN3A ENST00000361820 human ensembl 70_37 -1 known missense c.691 p.E231Q 1.000 NULL pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC GRK1 6011 genome.wustl.edu 37 13 114436031 114436031 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 114436031 114436031 G A SNP GRK1 ENST00000335678 human ensembl 70_37 +1 known missense c.1369 p.D457N 0.025 superfamily_Kinase-like_dom,smart_AGC-kinase_C pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors GRK1 HGNC GTPBP2 54676 genome.wustl.edu 37 6 43596854 43596854 + Nonsense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 43596854 43596854 C A SNP GTPBP2 ENST00000307126 human ensembl 70_37 -1 known nonsense c.46 p.G16* 0.999 NULL pfam_EF_GTP-bd_dom,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel - no_errors GTPBP2 HGNC GYG1 2992 genome.wustl.edu 37 3 148711992 148711992 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 148711992 148711992 C T SNP GYG1 ENST00000345003 human ensembl 70_37 +1 known missense c.71 p.S24L 0.989 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GYG1 HGNC H1FNT 341567 genome.wustl.edu 37 12 48723250 48723250 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 48723250 48723250 G C SNP H1FNT ENST00000335017 human ensembl 70_37 +1 known missense c.176 p.R59T 0.039 NULL NULL - no_errors H1FNT HGNC H1FX-AS1 339942 genome.wustl.edu 37 3 129044099 129044099 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 129044099 129044099 G C SNP H1FX-AS1 ENST00000383461 human ensembl 70_37 +1 known rna NULL NULL 0.121 - - - no_errors H1FX-AS1 HGNC H6PD 9563 genome.wustl.edu 37 1 9324432 9324432 + Nonsense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 9324432 9324432 C G SNP H6PD ENST00000377403 human ensembl 70_37 +1 known nonsense c.1880 p.S627* 0.114 tigrfam_6-phosphogluconolactonase_DevB pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB - no_errors H6PD HGNC HAT1 8520 genome.wustl.edu 37 2 172823389 172823389 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 172823389 172823389 C T SNP HAT1 ENST00000264108 human ensembl 70_37 +1 known nonsense c.742 p.Q248* 1.000 superfamily_Acyl_CoA_acyltransferase,pirsf_Hist_AcTrfase_B-typ_cat-su pfam_Hat1_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Hist_AcTrfase_B-typ_cat-su - no_errors HAT1 HGNC HAUS2 55142 genome.wustl.edu 37 15 42858847 42858847 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 42858847 42858847 G A SNP HAUS2 ENST00000260372 human ensembl 70_37 +1 known missense c.541 p.E181K 1.000 NULL NULL - no_errors HAUS2 HGNC HAUS2 55142 genome.wustl.edu 37 15 42858892 42858892 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 42858892 42858892 G A SNP HAUS2 ENST00000260372 human ensembl 70_37 +1 known missense c.586 p.E196K 0.999 NULL NULL - no_errors HAUS2 HGNC HCLS1 3059 genome.wustl.edu 37 3 121350298 121350298 + RNA SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 121350298 121350298 G T SNP HCLS1 ENST00000473883 human ensembl 70_37 -1 known rna NULL NULL 0.361 - - - no_errors HCLS1 HGNC HEATR1 55127 genome.wustl.edu 37 1 236748383 236748383 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 236748383 236748383 C G SNP HEATR1 ENST00000366582 human ensembl 70_37 -1 known missense c.2183 p.R728T 0.989 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC HEATR4 399671 genome.wustl.edu 37 14 73945450 73945450 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 73945450 73945450 C A SNP HEATR4 ENST00000334988 human ensembl 70_37 -1 known missense c.2942 p.R981L 0.882 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC HEATR4 399671 genome.wustl.edu 37 14 73945457 73945457 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 73945457 73945457 C T SNP HEATR4 ENST00000334988 human ensembl 70_37 -1 known missense c.2935 p.D979N 0.996 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC HEATR4 399671 genome.wustl.edu 37 14 73974859 73974859 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 73974859 73974859 C T SNP HEATR4 ENST00000334988 human ensembl 70_37 -1 known silent c.1860 p.L620 0.999 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC HEATR5A 25938 genome.wustl.edu 37 14 31858053 31858053 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 31858053 31858053 G C SNP HEATR5A ENST00000389961 human ensembl 70_37 -1 known missense c.913 p.Q305E 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5A HGNC HERC2P4 100289574 genome.wustl.edu 37 16 32163483 32163483 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 32163483 32163483 G A SNP HERC2P4 ENST00000563904 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P4 HGNC HGF 3082 genome.wustl.edu 37 7 81374376 81374376 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 81374376 81374376 C G SNP HGF ENST00000222390 human ensembl 70_37 -1 known missense c.686 p.G229A 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HGF HGNC HGF 3082 genome.wustl.edu 37 7 81388032 81388032 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 81388032 81388032 C G SNP HGF ENST00000222390 human ensembl 70_37 -1 known missense c.343 p.E115Q 1.000 pfam_PAN-1_domain,superfamily_Kringle-like,smart_Pan_app,pfscan_Pan_app pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HGF HGNC HIST1H3B 8358 genome.wustl.edu 37 6 26032045 26032045 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 26032045 26032045 C T SNP HIST1H3B ENST00000244661 human ensembl 70_37 -1 known missense c.244 p.D82N 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3B HGNC HIVEP1 3096 genome.wustl.edu 37 6 12121938 12121938 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 12121938 12121938 C G SNP HIVEP1 ENST00000379388 human ensembl 70_37 +1 known missense c.1910 p.S637C 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC HK2 3099 genome.wustl.edu 37 2 75107555 75107555 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 75107555 75107555 C G SNP HK2 ENST00000290573 human ensembl 70_37 +1 known missense c.1429 p.L477V 0.733 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK2 HGNC HLA-A 3105 genome.wustl.edu 37 6 29910797 29910797 + Nonsense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 29910797 29910797 G T SNP HLA-A ENST00000376806 human ensembl 70_37 +1 known nonsense c.337 p.E113* 0.722 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog 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-A HGNC HMCN1 83872 genome.wustl.edu 37 1 186141187 186141187 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 186141187 186141187 G A SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known silent c.15738 p.K5246 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC HMG20A 10363 genome.wustl.edu 37 15 77771569 77771569 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 77771569 77771569 G C SNP HMG20A ENST00000336216 human ensembl 70_37 +1 known missense c.956 p.R319T 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMG20A HGNC HMOX1 3162 genome.wustl.edu 37 22 35789553 35789553 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 35789553 35789553 C G SNP HMOX1 ENST00000216117 human ensembl 70_37 +1 known missense c.829 p.L277V 0.186 NULL pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase,prints_Haem_Oase - no_errors HMOX1 HGNC HNRNPU 3192 genome.wustl.edu 37 1 245020903 245020903 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 245020903 245020903 C T SNP HNRNPU ENST00000283179 human ensembl 70_37 -1 known missense c.1611 p.M537I 1.000 pfam_Zeta_toxin_domain pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,superfamily_ConA-like_lec_gl_sf,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd - no_errors HNRNPU HGNC HOMER3 9454 genome.wustl.edu 37 19 19040315 19040315 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 19040315 19040315 G C SNP HOMER3 ENST00000392351 human ensembl 70_37 -1 known silent c.1023 p.V341 0.963 NULL pfam_EVH1,smart_EVH1,pfscan_EVH1 - no_errors HOMER3 HGNC HOXC12 3228 genome.wustl.edu 37 12 54350313 54350313 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 54350313 54350313 G C SNP HOXC12 ENST00000243103 human ensembl 70_37 +1 known missense c.812 p.R271T 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXC12 HGNC HPS1 3257 genome.wustl.edu 37 10 100177236 100177236 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 100177236 100177236 G C SNP HPS1 ENST00000467246 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors HPS1 HGNC HSP90AA1 3320 genome.wustl.edu 37 14 102552357 102552357 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 102552357 102552357 G A SNP HSP90AA1 ENST00000334701 human ensembl 70_37 -1 known silent c.633 p.L211 0.984 pirsf_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,prints_Hsp90_N pirsf_Hsp90,pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,prints_Hsp90_N - no_errors HSP90AA1 HGNC HTR3D 200909 genome.wustl.edu 37 3 183754187 183754187 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 183754187 183754187 C T SNP HTR3D ENST00000382489 human ensembl 70_37 +1 known silent c.405 p.L135 0.901 superfamily_Neur_chan_lig-bd pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd - no_errors HTR3D HGNC HTR5A 3361 genome.wustl.edu 37 7 154863129 154863129 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 154863129 154863129 C T SNP HTR5A ENST00000287907 human ensembl 70_37 +1 known silent c.520 p.L174 0.978 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT5A_rcpt,prints_5HT_rcpt - no_errors HTR5A HGNC HTR6 3362 genome.wustl.edu 37 1 19992919 19992919 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 19992919 19992919 C T SNP HTR6 ENST00000289753 human ensembl 70_37 +1 known missense c.673 p.L225F 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT6_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT6_rcpt,prints_GPCR_Rhodpsn - no_errors HTR6 HGNC IARS2 55699 genome.wustl.edu 37 1 220320875 220320875 + Silent SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 220320875 220320875 C A SNP IARS2 ENST00000302637 human ensembl 70_37 +1 known silent c.2937 p.V979 0.925 superfamily_tRNAsynth_1a_anticodon-bd pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS2 HGNC IGFN1 91156 genome.wustl.edu 37 1 201195081 201195081 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 201195081 201195081 C T SNP IGFN1 ENST00000335211 human ensembl 70_37 +1 known missense c.10616 p.S3539L 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGFN1 HGNC IL15 3600 genome.wustl.edu 37 4 142643137 142643137 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 142643137 142643137 G C SNP IL15 ENST00000296545 human ensembl 70_37 +1 known missense c.171 p.L57F 0.612 pfam_Interleukin_15-like pfam_Interleukin_15-like,prints_Interleukin-15_mammal,prints_Interleukin-15 - no_errors IL15 HGNC IL17RB 55540 genome.wustl.edu 37 3 53899116 53899116 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 53899116 53899116 C G SNP IL17RB ENST00000288167 human ensembl 70_37 +1 known missense c.1290 p.F430L 1.000 pfam_SEFIR pfam_SEFIR - no_errors IL17RB HGNC IL17RD 54756 genome.wustl.edu 37 3 57148770 57148770 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 57148770 57148770 G A SNP IL17RD ENST00000296318 human ensembl 70_37 -1 known missense c.260 p.A87V 0.981 NULL pfam_SEFIR,superfamily_TIR_dom - no_errors IL17RD HGNC IL1RAP 3556 genome.wustl.edu 37 3 190363541 190363541 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 190363541 190363541 G C SNP IL1RAP ENST00000443369 human ensembl 70_37 +1 known missense c.1255 p.E419Q 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,prints_IL1_rcpt_1 pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II - no_errors IL1RAP HGNC IL1RAP 3556 genome.wustl.edu 37 3 190373990 190373990 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 190373990 190373990 C G SNP IL1RAP ENST00000443369 human ensembl 70_37 +1 known missense c.1658 p.S553C 0.988 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II - no_errors IL1RAP HGNC IL27RA 9466 genome.wustl.edu 37 19 14157028 14157028 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 14157028 14157028 G A SNP IL27RA ENST00000263379 human ensembl 70_37 +1 known silent c.831 p.L277 0.000 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL27RA HGNC ILKAP 80895 genome.wustl.edu 37 2 239103229 239103229 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 239103229 239103229 G C SNP ILKAP ENST00000490837 human ensembl 70_37 -1 known rna NULL NULL 0.993 - - - no_errors ILKAP HGNC IMPG2 50939 genome.wustl.edu 37 3 100949976 100949976 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 100949976 100949976 C T SNP IMPG2 ENST00000193391 human ensembl 70_37 -1 known missense c.3247 p.E1083K 1.000 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors IMPG2 HGNC INADL 10207 genome.wustl.edu 37 1 62579784 62579784 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 62579784 62579784 G C SNP INADL ENST00000371158 human ensembl 70_37 +1 known missense c.4521 p.Q1507H 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ING5 84289 genome.wustl.edu 37 2 242644096 242644096 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 242644096 242644096 G C SNP ING5 ENST00000313552 human ensembl 70_37 +1 known missense c.66 p.Q22H 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING5 HGNC INPP5F 22876 genome.wustl.edu 37 10 121587053 121587053 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 121587053 121587053 C T SNP INPP5F ENST00000361976 human ensembl 70_37 +1 known missense c.3160 p.H1054Y 0.031 NULL pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC INTS1 26173 genome.wustl.edu 37 7 1519192 1519192 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 1519192 1519192 G A SNP INTS1 ENST00000389470 human ensembl 70_37 -1 known silent c.4800 p.I1600 0.000 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC INTS1 26173 genome.wustl.edu 37 7 1525123 1525123 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 1525123 1525123 G C SNP INTS1 ENST00000389470 human ensembl 70_37 -1 known missense c.3445 p.H1149D 0.001 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC IPPK 64768 genome.wustl.edu 37 9 95378213 95378213 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 95378213 95378213 G C SNP IPPK ENST00000287996 human ensembl 70_37 -1 known silent c.1377 p.V459 1.000 NULL pfam_Ins_P5_2-kin - no_errors IPPK HGNC IQCH 64799 genome.wustl.edu 37 15 67649712 67649712 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 67649712 67649712 C T SNP IQCH ENST00000335894 human ensembl 70_37 +1 known missense c.667 p.P223S 0.000 NULL pfscan_IQ_motif_EF-hand-BS - no_errors IQCH HGNC IQGAP3 128239 genome.wustl.edu 37 1 156539199 156539199 + Nonsense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 156539199 156539199 G A SNP IQGAP3 ENST00000361170 human ensembl 70_37 -1 known nonsense c.94 p.Q32* 1.000 superfamily_CH-domain pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC IRAK3 11213 genome.wustl.edu 37 12 66638416 66638416 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 66638416 66638416 C T SNP IRAK3 ENST00000261233 human ensembl 70_37 +1 known silent c.1038 p.I346 0.997 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_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Death,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom - no_errors IRAK3 HGNC IRF1 3659 genome.wustl.edu 37 5 131820129 131820129 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 131820129 131820129 C G SNP IRF1 ENST00000245414 human ensembl 70_37 -1 known missense c.778 p.E260Q 1.000 pirsf_Interferon_reg_fac-1/2 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF1 HGNC ITFG1 81533 genome.wustl.edu 37 16 47195728 47195728 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 47195728 47195728 C G SNP ITFG1 ENST00000320640 human ensembl 70_37 -1 known missense c.1594 p.E532Q 1.000 NULL NULL - no_errors ITFG1 HGNC ITFG1 81533 genome.wustl.edu 37 16 47487999 47487999 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 47487999 47487999 G A SNP ITFG1 ENST00000320640 human ensembl 70_37 -1 known silent c.352 p.L118 0.459 NULL NULL - no_errors ITFG1 HGNC ITGA4 3676 genome.wustl.edu 37 2 182363438 182363438 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 182363438 182363438 G A SNP ITGA4 ENST00000397033 human ensembl 70_37 +1 known silent c.1629 p.V543 0.367 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ITGA9 3680 genome.wustl.edu 37 3 37544680 37544680 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 37544680 37544680 G A SNP ITGA9 ENST00000264741 human ensembl 70_37 +1 known silent c.624 p.V208 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA9 HGNC ITGAL 3683 genome.wustl.edu 37 16 30490497 30490497 + Missense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 30490497 30490497 G T SNP ITGAL ENST00000356798 human ensembl 70_37 +1 known missense c.413 p.G138V 0.000 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAL HGNC ITIH6 347365 genome.wustl.edu 37 X 54784259 54784259 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 54784259 54784259 C T SNP ITIH6 ENST00000218436 human ensembl 70_37 -1 known missense c.2248 p.D750N 0.000 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC ITPA 3704 genome.wustl.edu 37 20 3190194 3190194 + RNA SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 3190194 3190194 C A SNP ITPA ENST00000460550 human ensembl 70_37 +1 known rna NULL NULL 0.014 - - - no_errors ITPA HGNC ITPK1-AS1 319085 genome.wustl.edu 37 14 93537475 93537475 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 93537475 93537475 G C SNP ITPK1-AS1 ENST00000553639 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors ITPK1-AS1 HGNC ITPKC 80271 genome.wustl.edu 37 19 41243662 41243662 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 41243662 41243662 C G SNP ITPKC ENST00000263370 human ensembl 70_37 +1 known missense c.1836 p.F612L 1.000 pfam_IPK pfam_IPK - no_errors ITPKC HGNC JPH3 57338 genome.wustl.edu 37 16 87723265 87723265 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 87723265 87723265 G C SNP JPH3 ENST00000284262 human ensembl 70_37 +1 known missense c.1299 p.Q433H 1.000 pirsf_Junctophilin pirsf_Junctophilin,pfam_MORN,smart_MORN - no_errors JPH3 HGNC JRK 8629 genome.wustl.edu 37 8 143740180 143740180 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 143740180 143740180 G A SNP JRK ENST00000507178 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors JRK HGNC JUN 3725 genome.wustl.edu 37 1 59247748 59247748 + Nonstop_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 59247748 59247748 C G SNP JUN ENST00000371222 human ensembl 70_37 -1 known nonstop c.995 p.*332S 1.000 NULL pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUN HGNC KAT5 10524 genome.wustl.edu 37 11 65486388 65486388 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 65486388 65486388 C A SNP KAT5 ENST00000341318 human ensembl 70_37 +1 known missense c.1469 p.S490Y 1.000 pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT5 HGNC KAT6B 23522 genome.wustl.edu 37 10 76789044 76789044 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 76789044 76789044 G C SNP KAT6B ENST00000287239 human ensembl 70_37 +1 known missense c.4462 p.E1488Q 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC KCNC3 3748 genome.wustl.edu 37 19 50831754 50831754 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 50831754 50831754 C T SNP KCNC3 ENST00000477616 human ensembl 70_37 -1 known missense c.586 p.E196K 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC3 HGNC KCNC3 3748 genome.wustl.edu 37 19 50831779 50831779 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 50831779 50831779 C T SNP KCNC3 ENST00000477616 human ensembl 70_37 -1 known missense c.561 p.M187I 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv3 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC3 HGNC KCNH3 23416 genome.wustl.edu 37 12 49948277 49948277 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 49948277 49948277 C T SNP KCNH3 ENST00000257981 human ensembl 70_37 +1 known silent c.2076 p.F692 0.991 superfamily_cNMP-bd-like,smart_cNMP-bd_dom pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC KCNK5 8645 genome.wustl.edu 37 6 39158927 39158927 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 39158927 39158927 G A SNP KCNK5 ENST00000359534 human ensembl 70_37 -1 known silent c.1239 p.L413 0.993 NULL pfam_Ion_trans_2,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK5 HGNC KCTD12 115207 genome.wustl.edu 37 13 77459648 77459648 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 77459648 77459648 G A SNP KCTD12 ENST00000317765 human ensembl 70_37 -1 known silent c.636 p.I212 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD12 HGNC KCTD6 200845 genome.wustl.edu 37 3 58484430 58484430 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 58484430 58484430 C G SNP KCTD6 ENST00000479470 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors KCTD6 HGNC KDM2B 84678 genome.wustl.edu 37 12 121947753 121947753 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 121947753 121947753 C G SNP KDM2B ENST00000377071 human ensembl 70_37 -1 known missense c.1264 p.E422Q 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC KHSRP 8570 genome.wustl.edu 37 19 6417784 6417784 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 6417784 6417784 C G SNP KHSRP ENST00000398148 human ensembl 70_37 -1 known missense c.1047 p.Q349H 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHSRP HGNC KIAA0100 9703 genome.wustl.edu 37 17 26959124 26959124 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 26959124 26959124 C T SNP KIAA0100 ENST00000005905 human ensembl 70_37 -1 known silent c.3939 p.K1313 1.000 NULL pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC KIAA0922 23240 genome.wustl.edu 37 4 154544168 154544168 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 154544168 154544168 G C SNP KIAA0922 ENST00000409959 human ensembl 70_37 +1 known missense c.3978 p.W1326C 1.000 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC KIAA1524 57650 genome.wustl.edu 37 3 108276072 108276072 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 108276072 108276072 G A SNP KIAA1524 ENST00000295746 human ensembl 70_37 -1 known missense c.2203 p.L735F 0.954 NULL superfamily_ARM-type_fold - no_errors KIAA1524 HGNC KIAA1644 85352 genome.wustl.edu 37 22 44681447 44681447 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 44681447 44681447 G A SNP KIAA1644 ENST00000381176 human ensembl 70_37 -1 putative missense c.460 p.R154W 0.998 NULL NULL - no_errors KIAA1644 HGNC KIDINS220 57498 genome.wustl.edu 37 2 8934073 8934073 + Silent SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 8934073 8934073 C A SNP KIDINS220 ENST00000256707 human ensembl 70_37 -1 known silent c.1143 p.R381 0.988 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC KIF11 3832 genome.wustl.edu 37 10 94397061 94397061 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 94397061 94397061 G A SNP KIF11 ENST00000260731 human ensembl 70_37 +1 known missense c.1996 p.D666N 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF11 HGNC KIF23 9493 genome.wustl.edu 37 15 69728997 69728997 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 69728997 69728997 G A SNP KIF23 ENST00000260363 human ensembl 70_37 +1 known silent c.1491 p.L497 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF23 HGNC KIF2C 11004 genome.wustl.edu 37 1 45218872 45218872 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 45218872 45218872 G C SNP KIF2C ENST00000372224 human ensembl 70_37 +1 known missense c.508 p.E170Q 0.997 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2C HGNC KIN 22944 genome.wustl.edu 37 10 7805709 7805709 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 7805709 7805709 G A SNP KIN ENST00000379562 human ensembl 70_37 -1 known missense c.895 p.H299Y 1.000 NULL pfam_DNA/RNA-bd_Kin17_cons_domain - no_errors KIN HGNC KLHL36 79786 genome.wustl.edu 37 16 84695382 84695382 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 84695382 84695382 C T SNP KLHL36 ENST00000564996 human ensembl 70_37 +1 known silent c.1494 p.I498 0.993 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL36 HGNC KLK2 3817 genome.wustl.edu 37 19 51380002 51380002 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 51380002 51380002 G A SNP KLK2 ENST00000325321 human ensembl 70_37 +1 known missense c.481 p.E161K 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK2 HGNC KLRD1 3824 genome.wustl.edu 37 12 10464197 10464197 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 10464197 10464197 C T SNP KLRD1 ENST00000381908 human ensembl 70_37 +1 known nonsense c.298 p.Q100* 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 - no_errors KLRD1 HGNC KNTC1 9735 genome.wustl.edu 37 12 123078605 123078605 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 123078605 123078605 G A SNP KNTC1 ENST00000545065 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors KNTC1 HGNC KNTC1 9735 genome.wustl.edu 37 12 123078723 123078723 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 123078723 123078723 G A SNP KNTC1 ENST00000545065 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors KNTC1 HGNC KNTC1 9735 genome.wustl.edu 37 12 123082420 123082420 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 123082420 123082420 G C SNP KNTC1 ENST00000333479 human ensembl 70_37 +1 known missense c.4498 p.E1500Q 0.646 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC KRT71 112802 genome.wustl.edu 37 12 52943902 52943902 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 52943902 52943902 C T SNP KRT71 ENST00000267119 human ensembl 70_37 -1 known silent c.567 p.R189 0.992 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT71 HGNC KRT76 51350 genome.wustl.edu 37 12 53170902 53170902 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 53170902 53170902 G A SNP KRT76 ENST00000332411 human ensembl 70_37 -1 known silent c.174 p.L58 1.000 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT76 HGNC KRTAP10-5 386680 genome.wustl.edu 37 21 46000241 46000241 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 21 46000241 46000241 G A SNP KRTAP10-5 ENST00000400372 human ensembl 70_37 -1 known missense c.215 p.S72L 0.037 NULL NULL - no_errors KRTAP10-5 HGNC KRTAP21-3 100288323 genome.wustl.edu 37 21 32090931 32090931 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 21 32090931 32090931 C T SNP KRTAP21-3 ENST00000444335 human ensembl 70_37 -1 known silent c.147 p.L49 0.000 NULL NULL - no_errors KRTAP21-3 HGNC LAMA1 284217 genome.wustl.edu 37 18 7043261 7043261 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 7043261 7043261 C T SNP LAMA1 ENST00000389658 human ensembl 70_37 -1 known missense c.1120 p.E374K 1.000 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC LAMB1 3912 genome.wustl.edu 37 7 107626622 107626622 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 107626622 107626622 C G SNP LAMB1 ENST00000222399 human ensembl 70_37 -1 known missense c.610 p.E204Q 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC LANCL2 55915 genome.wustl.edu 37 7 55492961 55492961 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 55492961 55492961 G A SNP LANCL2 ENST00000254770 human ensembl 70_37 +1 known silent c.1023 p.E341 0.998 pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like - no_errors LANCL2 HGNC LARP1B 55132 genome.wustl.edu 37 4 129120696 129120696 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 129120696 129120696 G A SNP LARP1B ENST00000326639 human ensembl 70_37 +1 known silent c.2106 p.L702 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1B HGNC LCT 3938 genome.wustl.edu 37 2 136575357 136575357 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 136575357 136575357 C T SNP LCT ENST00000264162 human ensembl 70_37 -1 known missense c.1261 p.E421K 0.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC LDB3 11155 genome.wustl.edu 37 10 88441498 88441498 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 88441498 88441498 G C SNP LDB3 ENST00000429277 human ensembl 70_37 +1 known missense c.627 p.E209D 1.000 smart_ZASP pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors LDB3 HGNC LDLRAD4 753 genome.wustl.edu 37 18 13645378 13645378 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 13645378 13645378 G A SNP LDLRAD4 ENST00000359446 human ensembl 70_37 +1 known missense c.643 p.D215N 1.000 NULL pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt - no_errors LDLRAD4 HGNC LHFPL1 340596 genome.wustl.edu 37 X 111914586 111914586 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 111914586 111914586 G A SNP LHFPL1 ENST00000371968 human ensembl 70_37 -1 known silent c.33 p.L11 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL1 HGNC LOC100127974 100127974 genome.wustl.edu 37 12 6692553 6692553 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 6692553 6692553 G A SNP LOC100127974 ENST00000501075 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP5-940J5.6 Clone_based_vega_gene LOC100289090 100289090 genome.wustl.edu 37 15 42187240 42187240 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 42187240 42187240 C T SNP LOC100289090 ENST00000309874 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors RP11-23P13.6 Clone_based_vega_gene LOC100505782 100505782 genome.wustl.edu 37 17 39564775 39564775 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 39564775 39564775 C T SNP LOC100505782 ENST00000430006 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC003958.2 Clone_based_vega_gene LOC100506102 100506102 genome.wustl.edu 37 5 132446890 132446890 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 132446890 132446890 G C SNP LOC100506102 ENST00000507389 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-485M7.3 Clone_based_vega_gene LOC151174 151174 genome.wustl.edu 37 2 239133938 239133938 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 239133938 239133938 G A SNP LOC151174 ENST00000334973 human ensembl 70_37 -1 known missense c.268 p.P90S 0.000 NULL NULL - no_errors AC016757.3 Clone_based_vega_gene LOC253044 253044 genome.wustl.edu 37 15 77934197 77934197 + RNA SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 77934197 77934197 G T SNP LOC253044 ENST00000558691 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-307C19.3 Clone_based_vega_gene LOC400891 400891 genome.wustl.edu 37 22 21406603 21406603 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 21406603 21406603 C T SNP LOC400891 ENST00000342608 human ensembl 70_37 +1 known missense c.688 p.H230Y 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors AC002472.13 Clone_based_vega_gene LOC645513 645513 genome.wustl.edu 37 4 120384132 120384132 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 120384132 120384132 G C SNP LOC645513 ENST00000508519 human ensembl 70_37 +1 known rna NULL NULL 0.338 - - - no_errors RP11-33B1.1 Clone_based_vega_gene LOC645752 645752 genome.wustl.edu 37 15 78208211 78208211 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 78208211 78208211 C T SNP LOC645752 ENST00000563349 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-114H24.2 Clone_based_vega_gene LOC646543 646543 genome.wustl.edu 37 11 133779077 133779077 + Missense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 133779077 133779077 G T SNP LOC646543 ENST00000564347 human ensembl 70_37 -1 putative missense c.247 p.P83T 0.976 NULL NULL - no_errors RP11-259P6.1 Clone_based_vega_gene LOC729305 729305 genome.wustl.edu 37 11 134605754 134605754 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 134605754 134605754 C T SNP LOC729305 ENST00000513405 human ensembl 70_37 +1 putative rna NULL NULL 0.567 - - - no_errors RP11-469N6.1 Clone_based_vega_gene LOC729603 729603 genome.wustl.edu 37 6 160515007 160515007 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 160515007 160515007 G C SNP LOC729603 ENST00000569097 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-288H12.3 Clone_based_vega_gene LOC729974 729974 genome.wustl.edu 37 19 56284507 56284507 + Missense_Mutation SNP T T G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 56284507 56284507 T G SNP LOC729974 ENST00000341750 human ensembl 70_37 +1 novel missense c.826 p.S276A 0.000 pfscan_B30.2/SPRY pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors CTD-2611O12.2 Clone_based_vega_gene LOC729974 729974 genome.wustl.edu 37 19 56284529 56284529 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 56284529 56284529 C A SNP LOC729974 ENST00000341750 human ensembl 70_37 +1 novel missense c.848 p.S283Y 0.000 NULL pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors CTD-2611O12.2 Clone_based_vega_gene LOC729974 729974 genome.wustl.edu 37 19 56284535 56284535 + Missense_Mutation SNP A A G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 56284535 56284535 A G SNP LOC729974 ENST00000341750 human ensembl 70_37 +1 novel missense c.854 p.E285G 0.000 NULL pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors CTD-2611O12.2 Clone_based_vega_gene LPIN1 23175 genome.wustl.edu 37 2 11881504 11881504 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 11881504 11881504 C T SNP LPIN1 ENST00000464517 human ensembl 70_37 +1 known rna NULL NULL 0.011 - - - no_errors LPIN1 HGNC LRMP 4033 genome.wustl.edu 37 12 25186727 25186727 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 25186727 25186727 C G SNP LRMP ENST00000556485 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LRMP HGNC LRP2 4036 genome.wustl.edu 37 2 170135983 170135983 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 170135983 170135983 G A SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known silent c.1464 p.V488 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC LRP5L 91355 genome.wustl.edu 37 22 25750774 25750774 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 25750774 25750774 G A SNP LRP5L ENST00000402785 human ensembl 70_37 -1 known silent c.444 p.I148 0.944 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5L HGNC LRRC16A 55604 genome.wustl.edu 37 6 25452491 25452491 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 25452491 25452491 C T SNP LRRC16A ENST00000461945 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors LRRC16A HGNC LRRC37A6P 387646 genome.wustl.edu 37 10 27540266 27540266 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 27540266 27540266 G C SNP LRRC37A6P ENST00000574795 human ensembl 70_37 -1 known rna NULL NULL 0.014 - - - no_errors LRRC37A6P HGNC LRRC38 126755 genome.wustl.edu 37 1 13802519 13802519 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 13802519 13802519 G A SNP LRRC38 ENST00000376085 human ensembl 70_37 -1 known missense c.680 p.S227F 0.103 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC38 HGNC LRRC48 83450 genome.wustl.edu 37 17 17891275 17891275 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 17891275 17891275 G A SNP LRRC48 ENST00000313838 human ensembl 70_37 +1 known missense c.307 p.E103K 0.986 NULL NULL - no_errors LRRC48 HGNC LRRC49 54839 genome.wustl.edu 37 15 71305151 71305151 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 71305151 71305151 G C SNP LRRC49 ENST00000260382 human ensembl 70_37 +1 known missense c.1602 p.Q534H 0.999 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC49 HGNC LRRC4B 94030 genome.wustl.edu 37 19 51022613 51022613 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 51022613 51022613 C T SNP LRRC4B ENST00000389201 human ensembl 70_37 -1 known silent c.357 p.K119 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRC4B HGNC LRRC4B 94030 genome.wustl.edu 37 19 51022619 51022619 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 51022619 51022619 C T SNP LRRC4B ENST00000389201 human ensembl 70_37 -1 known silent c.351 p.L117 0.999 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRC4B HGNC LRRC8A 56262 genome.wustl.edu 37 9 131671153 131671153 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 131671153 131671153 G A SNP LRRC8A ENST00000259324 human ensembl 70_37 +1 known silent c.1710 p.Q570 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8A HGNC LRTM2 654429 genome.wustl.edu 37 12 1940559 1940559 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 1940559 1940559 C G SNP LRTM2 ENST00000299194 human ensembl 70_37 +1 known missense c.526 p.L176V 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM2 HGNC LTK 4058 genome.wustl.edu 37 15 41801322 41801322 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 41801322 41801322 C T SNP LTK ENST00000263800 human ensembl 70_37 -1 known missense c.1003 p.D335N 0.968 NULL 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LTK HGNC LY6H 4062 genome.wustl.edu 37 8 144240337 144240337 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 144240337 144240337 G A SNP LY6H ENST00000342752 human ensembl 70_37 -1 known missense c.133 p.H45Y 0.990 NULL pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LY6H HGNC LY75 4065 genome.wustl.edu 37 2 160741792 160741792 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 160741792 160741792 G A SNP LY75 ENST00000554112 human ensembl 70_37 -1 known missense c.926 p.A309V 0.018 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC LYPD3 27076 genome.wustl.edu 37 19 43965504 43965504 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 43965504 43965504 C T SNP LYPD3 ENST00000244333 human ensembl 70_37 -1 known silent c.1040 p.*347 0.992 NULL pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LYPD3 HGNC MAB21L1 4081 genome.wustl.edu 37 13 36049917 36049917 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 36049917 36049917 G C SNP MAB21L1 ENST00000379919 human ensembl 70_37 -1 known missense c.359 p.S120C 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L1 HGNC MACF1 23499 genome.wustl.edu 37 1 39888163 39888163 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 39888163 39888163 G A SNP MACF1 ENST00000317713 human ensembl 70_37 +1 known missense c.9748 p.D3250N 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC MACF1 23499 genome.wustl.edu 37 1 39888169 39888169 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 39888169 39888169 G A SNP MACF1 ENST00000317713 human ensembl 70_37 +1 known missense c.9754 p.E3252K 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC MAFB 9935 genome.wustl.edu 37 20 39316690 39316690 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 39316690 39316690 C G SNP MAFB ENST00000373313 human ensembl 70_37 -1 known missense c.801 p.E267D 1.000 pfam_bZIP_Maf,smart_bZIP,pfscan_bZIP pfam_bZIP_Maf,pfam_Maf_TF_N,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors MAFB HGNC MAGED1 9500 genome.wustl.edu 37 X 51640555 51640555 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 51640555 51640555 G A SNP MAGED1 ENST00000494718 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MAGED1 HGNC MAL 4118 genome.wustl.edu 37 2 95713817 95713817 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 95713817 95713817 G A SNP MAL ENST00000309988 human ensembl 70_37 +1 known silent c.207 p.L69 0.345 pfam_MARVEL-like_dom pfam_MARVEL-like_dom,prints_MAL - no_errors MAL HGNC MAMDC2 256691 genome.wustl.edu 37 9 72840732 72840732 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 72840732 72840732 C G SNP MAMDC2 ENST00000377182 human ensembl 70_37 +1 known missense c.1978 p.Q660E 0.998 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom - no_errors MAMDC2 HGNC MAN1C1 57134 genome.wustl.edu 37 1 25944781 25944781 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 25944781 25944781 C T SNP MAN1C1 ENST00000374332 human ensembl 70_37 +1 known nonsense c.493 p.Q165* 0.000 superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1C1 HGNC MAP3K3 4215 genome.wustl.edu 37 17 61771015 61771015 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 61771015 61771015 C A SNP MAP3K3 ENST00000361357 human ensembl 70_37 +1 known missense c.1852 p.Q618K 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_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,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 MAP3K3 HGNC MAPK14 1432 genome.wustl.edu 37 6 36041852 36041852 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 36041852 36041852 G A SNP MAPK14 ENST00000229794 human ensembl 70_37 +1 known silent c.474 p.V158 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,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_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_p38 - no_errors MAPK14 HGNC MAPKAPK2 9261 genome.wustl.edu 37 1 206905167 206905167 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 206905167 206905167 C G SNP MAPKAPK2 ENST00000479009 human ensembl 70_37 +1 putative rna NULL NULL 0.072 - - - no_errors MAPKAPK2 HGNC MARCH10 162333 genome.wustl.edu 37 17 60814461 60814461 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 60814461 60814461 G C SNP MARCH10 ENST00000311269 human ensembl 70_37 -1 known silent c.768 p.L256 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH10 HGNC MARK3 4140 genome.wustl.edu 37 14 103852004 103852004 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 103852004 103852004 C T SNP MARK3 ENST00000560603 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MARK3 HGNC MARS 4141 genome.wustl.edu 37 12 57906126 57906126 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 57906126 57906126 C T SNP MARS ENST00000262027 human ensembl 70_37 +1 known silent c.1743 p.L581 1.000 pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Met-tRNA_synth pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS HGNC MASP2 10747 genome.wustl.edu 37 1 11103437 11103437 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 11103437 11103437 C G SNP MASP2 ENST00000400897 human ensembl 70_37 -1 known missense c.700 p.E234Q 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors MASP2 HGNC MAX 4149 genome.wustl.edu 37 14 65544131 65544131 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 65544131 65544131 C G SNP MAX ENST00000557277 human ensembl 70_37 -1 putative missense c.37 p.D13H 1.000 NULL NULL - no_errors MAX HGNC MBTPS1 8720 genome.wustl.edu 37 16 84099344 84099344 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 84099344 84099344 C T SNP MBTPS1 ENST00000343411 human ensembl 70_37 -1 known silent c.2382 p.A794 0.054 NULL pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel - no_errors MBTPS1 HGNC MCM8 84515 genome.wustl.edu 37 20 5974260 5974260 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 5974260 5974260 C T SNP MCM8 ENST00000378886 human ensembl 70_37 +1 known silent c.2469 p.L823 1.000 NULL pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM8 HGNC MCM9 254394 genome.wustl.edu 37 6 119147332 119147332 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 119147332 119147332 C T SNP MCM9 ENST00000316316 human ensembl 70_37 -1 known missense c.1939 p.E647K 0.990 NULL pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM9 HGNC MCPH1 79648 genome.wustl.edu 37 8 6266851 6266851 + Nonsense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 6266851 6266851 C G SNP MCPH1 ENST00000344683 human ensembl 70_37 +1 known nonsense c.74 p.S25* 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1 - no_errors MCPH1 HGNC MDGA2 161357 genome.wustl.edu 37 14 47530502 47530502 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 47530502 47530502 C T SNP MDGA2 ENST00000399232 human ensembl 70_37 -1 known missense c.1475 p.G492E 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like - no_errors MDGA2 HGNC MDN1 23195 genome.wustl.edu 37 6 90422942 90422942 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 90422942 90422942 C T SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known silent c.7143 p.L2381 0.990 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC MED12L 116931 genome.wustl.edu 37 3 151131027 151131027 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 151131027 151131027 C T SNP MED12L ENST00000474524 human ensembl 70_37 +1 known nonsense c.6136 p.Q2046* 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC MED13 9969 genome.wustl.edu 37 17 60038353 60038353 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 60038353 60038353 C G SNP MED13 ENST00000397786 human ensembl 70_37 -1 known missense c.5355 p.Q1785H 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC MEF2B 100271849 genome.wustl.edu 37 19 19257570 19257570 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 19257570 19257570 C A SNP MEF2B ENST00000162023 human ensembl 70_37 -1 known missense c.656 p.R219L 0.631 NULL pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2B HGNC MEI1 150365 genome.wustl.edu 37 22 42099426 42099426 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 42099426 42099426 G C SNP MEI1 ENST00000401548 human ensembl 70_37 +1 known missense c.266 p.R89T 0.999 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MEI1 HGNC MEPE 56955 genome.wustl.edu 37 4 88759818 88759818 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 88759818 88759818 G C SNP MEPE ENST00000361056 human ensembl 70_37 +1 known missense c.89 p.S30T 0.968 NULL pfam_Osteoregulin - no_errors MEPE HGNC MERTK 10461 genome.wustl.edu 37 2 112785945 112785945 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 112785945 112785945 C G SNP MERTK ENST00000295408 human ensembl 70_37 +1 known missense c.2504 p.S835C 0.013 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,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MERTK HGNC MET 4233 genome.wustl.edu 37 7 116371803 116371803 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 116371803 116371803 G C SNP MET ENST00000318493 human ensembl 70_37 +1 known missense c.1282 p.D428H 0.997 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MET HGNC MFSD2A 84879 genome.wustl.edu 37 1 40422823 40422823 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 40422823 40422823 G C SNP MFSD2A ENST00000372809 human ensembl 70_37 +1 known missense c.158 p.G53A 0.998 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD2A HGNC MGA 23269 genome.wustl.edu 37 15 41961629 41961629 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 41961629 41961629 C G SNP MGA ENST00000219905 human ensembl 70_37 +1 known silent c.537 p.L179 0.990 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC MIR4485 100616263 genome.wustl.edu 37 MT 1719 1719 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 MT 1719 1719 G A SNP MIR4485 ENST00000387347 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors MIR4485 HGNC MKI67 4288 genome.wustl.edu 37 10 129903272 129903272 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 129903272 129903272 C G SNP MKI67 ENST00000368654 human ensembl 70_37 -1 known missense c.6832 p.D2278H 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC KMT2D 8085 genome.wustl.edu 37 12 49416091 49416091 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 49416091 49416091 C G SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.16384 p.D5462H 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC KMT2D 8085 genome.wustl.edu 37 12 49426526 49426526 + Nonsense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 49426526 49426526 G A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known nonsense c.11962 p.Q3988* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC KMT2C 58508 genome.wustl.edu 37 7 151878871 151878871 + Nonsense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 151878871 151878871 G C SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.6074 p.S2025* 0.997 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC KMT2C 58508 genome.wustl.edu 37 7 151879322 151879322 + Nonsense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 151879322 151879322 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.5623 p.Q1875* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC MLLT3 4300 genome.wustl.edu 37 9 20365705 20365705 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 20365705 20365705 G C SNP MLLT3 ENST00000380338 human ensembl 70_37 -1 known missense c.1163 p.S388C 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC MLNR 2862 genome.wustl.edu 37 13 49795333 49795333 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 49795333 49795333 C T SNP MLNR ENST00000218721 human ensembl 70_37 +1 known missense c.860 p.S287L 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,prints_GHS1_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors MLNR HGNC MLXIPL 51085 genome.wustl.edu 37 7 73013893 73013893 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 73013893 73013893 G A SNP MLXIPL ENST00000313375 human ensembl 70_37 -1 known missense c.1034 p.S345L 0.001 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors MLXIPL HGNC MMP10 4319 genome.wustl.edu 37 11 102645984 102645984 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 102645984 102645984 G C SNP MMP10 ENST00000279441 human ensembl 70_37 -1 known missense c.1001 p.S334C 0.099 pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin - no_errors MMP10 HGNC MOBP 4336 genome.wustl.edu 37 3 39544051 39544051 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 39544051 39544051 C G SNP MOBP ENST00000354668 human ensembl 70_37 +1 known missense c.232 p.Q78E 1.000 NULL NULL - no_errors MOBP HGNC MOCS1 4337 genome.wustl.edu 37 6 39874883 39874883 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 39874883 39874883 C G SNP MOCS1 ENST00000340692 human ensembl 70_37 -1 known missense c.1161 p.L387F 0.000 NULL pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C - no_errors MOCS1 HGNC MORC3 23515 genome.wustl.edu 37 21 37741550 37741550 + Silent SNP A A G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 21 37741550 37741550 A G SNP MORC3 ENST00000400485 human ensembl 70_37 +1 known silent c.1884 p.S628 0.000 NULL pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC MPPED1 758 genome.wustl.edu 37 22 43821022 43821022 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 43821022 43821022 C T SNP MPPED1 ENST00000538182 human ensembl 70_37 +1 known silent c.130 p.L44 1.000 NULL pfam_Metallo_PEstase_dom - no_errors MPPED1 HGNC MRGPRX1 259249 genome.wustl.edu 37 11 18955407 18955407 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 18955407 18955407 G C SNP MRGPRX1 ENST00000302797 human ensembl 70_37 -1 known missense c.925 p.P309A 0.052 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX1 HGNC MRPL28 10573 genome.wustl.edu 37 16 420123 420123 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 420123 420123 C T SNP MRPL28 ENST00000199706 human ensembl 70_37 -1 known silent c.96 p.L32 0.161 NULL NULL - no_errors MRPL28 HGNC MRPL28 10573 genome.wustl.edu 37 16 420171 420171 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 420171 420171 C T SNP MRPL28 ENST00000199706 human ensembl 70_37 -1 known silent c.48 p.L16 0.999 NULL NULL - no_errors MRPL28 HGNC MRPS18B 28973 genome.wustl.edu 37 6 30587278 30587278 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 30587278 30587278 C G SNP MRPS18B ENST00000259873 human ensembl 70_37 +1 known silent c.87 p.L29 0.989 NULL pfam_Ribosomal_S18,superfamily_Ribosomal_S18 - no_errors MRPS18B HGNC MRPS30 10884 genome.wustl.edu 37 5 44809106 44809106 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 44809106 44809106 G A SNP MRPS30 ENST00000507110 human ensembl 70_37 +1 known silent c.42 p.P14 0.000 pfam_Ribosomal_L37/S30 pfam_Ribosomal_L37/S30 - no_errors MRPS30 HGNC MT-ND5 4540 genome.wustl.edu 37 MT 12633 12633 + Silent SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 MT 12633 12633 C A SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known silent c.297 p.S99 NULL pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC MT-ND5 4540 genome.wustl.edu 37 MT 13780 13780 + Missense_Mutation SNP A A G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 MT 13780 13780 A G SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known missense c.1444 p.I482V NULL pfam_NADH_DH_su5_C,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC MT1E 4493 genome.wustl.edu 37 16 56660658 56660658 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 56660658 56660658 C T SNP MT1E ENST00000330439 human ensembl 70_37 +1 putative silent c.309 p.F103 0.000 NULL pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom - no_errors MT1E HGNC MTDH 92140 genome.wustl.edu 37 8 98718853 98718853 + Splice_Site SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 98718853 98718853 G C SNP MTDH ENST00000336273 human ensembl 70_37 +1 known splice_site c.1148-1 e8-1 1.000 - - - no_errors MTDH HGNC MTFP1 51537 genome.wustl.edu 37 22 30822800 30822800 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 30822800 30822800 G A SNP MTFP1 ENST00000266263 human ensembl 70_37 +1 known missense c.163 p.D55N 1.000 pfam_Mitochondrial_18_kDa_protein_ pfam_Mitochondrial_18_kDa_protein_ - no_errors MTFP1 HGNC MUC4 4585 genome.wustl.edu 37 3 195475853 195475853 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 195475853 195475853 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known silent c.15954 p.F5318 0.993 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC4 4585 genome.wustl.edu 37 3 195511420 195511420 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 195511420 195511420 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.7031 p.S2344L 0.541 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC4 4585 genome.wustl.edu 37 3 195515701 195515701 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 195515701 195515701 C G SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.2750 p.R917T 0.025 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC5B 727897 genome.wustl.edu 37 11 1267602 1267602 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 1267602 1267602 C G SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known silent c.9501 p.L3167 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC MUC5B 727897 genome.wustl.edu 37 11 1271508 1271508 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 1271508 1271508 G A SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known silent c.13407 p.T4469 0.001 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC MXRA5 25878 genome.wustl.edu 37 X 3241076 3241076 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 3241076 3241076 G C SNP MXRA5 ENST00000217939 human ensembl 70_37 -1 known missense c.2650 p.L884V 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC MYADML 151325 genome.wustl.edu 37 2 33953001 33953001 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 33953001 33953001 C T SNP MYADML ENST00000474610 human ensembl 70_37 -1 known rna NULL NULL 0.015 - - - no_errors MYADML HGNC MYBPH 4608 genome.wustl.edu 37 1 203144510 203144510 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 203144510 203144510 C G SNP MYBPH ENST00000255416 human ensembl 70_37 -1 known missense c.285 p.E95D 0.450 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPH HGNC MYCBP2 23077 genome.wustl.edu 37 13 77695598 77695598 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 77695598 77695598 G C SNP MYCBP2 ENST00000407578 human ensembl 70_37 -1 known missense c.8050 p.P2684A 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC MYL3 4634 genome.wustl.edu 37 3 46904775 46904775 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 46904775 46904775 C T SNP MYL3 ENST00000292327 human ensembl 70_37 -1 known missense c.106 p.E36K 0.218 NULL pfscan_EF_HAND_2 - no_errors MYL3 HGNC MYLK 4638 genome.wustl.edu 37 3 123385156 123385156 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 123385156 123385156 C T SNP MYLK ENST00000360304 human ensembl 70_37 -1 known silent c.3741 p.Q1247 0.988 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like 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 MYO15A 51168 genome.wustl.edu 37 17 18025405 18025405 + Silent SNP A A C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 18025405 18025405 A C SNP MYO15A ENST00000205890 human ensembl 70_37 +1 known silent c.3291 p.P1097 0.001 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC MYOM2 9172 genome.wustl.edu 37 8 2054351 2054351 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 2054351 2054351 G A SNP MYOM2 ENST00000262113 human ensembl 70_37 +1 known missense c.2962 p.D988N 1.000 smart_Ig_sub,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM2 HGNC MYOM3 127294 genome.wustl.edu 37 1 24419481 24419481 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 24419481 24419481 G A SNP MYOM3 ENST00000330966 human ensembl 70_37 -1 known missense c.1049 p.S350L 0.084 pfam_Ig_I-set,smart_Ig_sub pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM3 HGNC MYPOP 339344 genome.wustl.edu 37 19 46404855 46404855 + Silent SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 46404855 46404855 G T SNP MYPOP ENST00000322217 human ensembl 70_37 -1 known silent c.177 p.I59 1.000 superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYPOP HGNC NADSYN1 55191 genome.wustl.edu 37 11 71195371 71195371 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 71195371 71195371 C G SNP NADSYN1 ENST00000319023 human ensembl 70_37 +1 known missense c.1333 p.L445V 0.716 pfam_NAD/GMP_synthase,pirsf_Gln-dep_NAD_synthase,tigrfam_NAD_synthase pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase - no_errors NADSYN1 HGNC NASP 4678 genome.wustl.edu 37 1 46073553 46073553 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 46073553 46073553 G A SNP NASP ENST00000402363 human ensembl 70_37 +1 known missense c.976 p.E326K 0.022 NULL pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NASP HGNC NAV3 89795 genome.wustl.edu 37 12 78444742 78444742 + Silent SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 78444742 78444742 G T SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known silent c.2331 p.S777 0.004 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC NBEAL1 65065 genome.wustl.edu 37 2 203948174 203948174 + Missense_Mutation SNP A A T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 203948174 203948174 A T SNP NBEAL1 ENST00000449802 human ensembl 70_37 +1 known missense c.917 p.H306L 0.999 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC NBEAL1 65065 genome.wustl.edu 37 2 203948177 203948177 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 203948177 203948177 C T SNP NBEAL1 ENST00000449802 human ensembl 70_37 +1 known missense c.920 p.S307L 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC NBEAL1 65065 genome.wustl.edu 37 2 203948191 203948191 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 203948191 203948191 C T SNP NBEAL1 ENST00000449802 human ensembl 70_37 +1 known nonsense c.934 p.Q312* 0.991 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC NCOA1 8648 genome.wustl.edu 37 2 24930525 24930525 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 24930525 24930525 C G SNP NCOA1 ENST00000348332 human ensembl 70_37 +1 known missense c.2186 p.S729C 0.410 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_dom - no_errors NCOA1 HGNC NCR2 9436 genome.wustl.edu 37 6 41318523 41318523 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 41318523 41318523 C T SNP NCR2 ENST00000373089 human ensembl 70_37 +1 known missense c.752 p.S251L 0.001 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors NCR2 HGNC NDC80 10403 genome.wustl.edu 37 18 2608732 2608732 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 2608732 2608732 G C SNP NDC80 ENST00000261597 human ensembl 70_37 +1 known missense c.1591 p.E531Q 1.000 superfamily_t-SNARE pfam_Kinetochore_Ndc80,superfamily_t-SNARE - no_errors NDC80 HGNC NDUFB10 4716 genome.wustl.edu 37 16 2009706 2009706 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 2009706 2009706 G A SNP NDUFB10 ENST00000268668 human ensembl 70_37 +1 known missense c.81 p.M27I 0.000 NULL pfam_NADH_UbQ_OxRdtase_su10 - no_errors NDUFB10 HGNC NEURL3 93082 genome.wustl.edu 37 2 97166533 97166533 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 97166533 97166533 G A SNP NEURL3 ENST00000310865 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors NEURL3 HGNC NEUROG2 63973 genome.wustl.edu 37 4 113436006 113436006 + Nonsense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 113436006 113436006 G T SNP NEUROG2 ENST00000313341 human ensembl 70_37 -1 known nonsense c.626 p.S209* 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors NEUROG2 HGNC NFAT5 10725 genome.wustl.edu 37 16 69681236 69681236 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 69681236 69681236 G C SNP NFAT5 ENST00000432919 human ensembl 70_37 +1 known missense c.559 p.E187Q 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC NFATC1 4772 genome.wustl.edu 37 18 77170535 77170535 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 77170535 77170535 C T SNP NFATC1 ENST00000427363 human ensembl 70_37 +1 known missense c.260 p.S87L 0.008 NULL pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC1 HGNC NFATC1 4772 genome.wustl.edu 37 18 77208811 77208811 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 77208811 77208811 G A SNP NFATC1 ENST00000427363 human ensembl 70_37 +1 known silent c.1416 p.L472 0.995 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC1 HGNC NFATC2 4773 genome.wustl.edu 37 20 50133469 50133469 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 50133469 50133469 G C SNP NFATC2 ENST00000396009 human ensembl 70_37 -1 known missense c.1186 p.P396A 0.998 pfscan_RHD pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC NFATC3 4775 genome.wustl.edu 37 16 68224764 68224764 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 68224764 68224764 C G SNP NFATC3 ENST00000346183 human ensembl 70_37 +1 known missense c.2192 p.S731C 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC3 HGNC NHS 4810 genome.wustl.edu 37 X 17744529 17744529 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 17744529 17744529 C T SNP NHS ENST00000380060 human ensembl 70_37 +1 known missense c.2240 p.S747L 0.997 NULL NULL - no_errors NHS HGNC NID2 22795 genome.wustl.edu 37 14 52534754 52534754 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 52534754 52534754 C T SNP NID2 ENST00000216286 human ensembl 70_37 -1 known missense c.356 p.R119K 1.000 smart_Nidogen_extracell_dom pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID2 HGNC NKAP 79576 genome.wustl.edu 37 X 119064010 119064010 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 119064010 119064010 C G SNP NKAP ENST00000371410 human ensembl 70_37 -1 known missense c.1042 p.E348Q 1.000 pfam_DUF926 pfam_DUF926 - no_errors NKAP HGNC NKTR 4820 genome.wustl.edu 37 3 42674112 42674112 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 42674112 42674112 G C SNP NKTR ENST00000232978 human ensembl 70_37 +1 known missense c.570 p.K190N 1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC NLGN3 54413 genome.wustl.edu 37 X 70387001 70387001 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 70387001 70387001 C G SNP NLGN3 ENST00000358741 human ensembl 70_37 +1 known missense c.1054 p.L352V 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC NLRP13 126204 genome.wustl.edu 37 19 56424379 56424379 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 56424379 56424379 G A SNP NLRP13 ENST00000342929 human ensembl 70_37 -1 known silent c.804 p.L268 0.523 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC NOL10 79954 genome.wustl.edu 37 2 10729233 10729233 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 10729233 10729233 C G SNP NOL10 ENST00000381685 human ensembl 70_37 -1 known missense c.1780 p.E594Q 1.000 NULL pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors NOL10 HGNC NOP56 10528 genome.wustl.edu 37 20 2634826 2634826 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 2634826 2634826 G C SNP NOP56 ENST00000494697 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors NOP56 HGNC NOS1 4842 genome.wustl.edu 37 12 117749369 117749369 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 117749369 117749369 G C SNP NOS1 ENST00000317775 human ensembl 70_37 -1 known missense c.754 p.L252V 0.987 pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_met,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC NOS2 4843 genome.wustl.edu 37 17 26087701 26087701 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 26087701 26087701 G A SNP NOS2 ENST00000313735 human ensembl 70_37 -1 known silent c.2958 p.I986 0.900 pfam_OxRdtase_FAD/NAD-bd,pirsf_NOS_met,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC NOTCH2 4853 genome.wustl.edu 37 1 120468178 120468178 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 120468178 120468178 G A SNP NOTCH2 ENST00000256646 human ensembl 70_37 -1 known missense c.4261 p.P1421S 0.165 pirsf_Notch,smart_Notch_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC NOTCH2 4853 genome.wustl.edu 37 1 120468354 120468354 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 120468354 120468354 G C SNP NOTCH2 ENST00000256646 human ensembl 70_37 -1 known missense c.4085 p.S1362C 0.005 pirsf_Notch,smart_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC NOTCH3 4854 genome.wustl.edu 37 19 15291882 15291882 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 15291882 15291882 C T SNP NOTCH3 ENST00000263388 human ensembl 70_37 -1 known missense c.2884 p.E962K 0.613 smart_EGF-like_Ca-bd,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom - no_errors NOTCH3 HGNC NPIPB3 23117 genome.wustl.edu 37 16 21416078 21416078 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 21416078 21416078 G A SNP NPIPL3 ENST00000447737 human ensembl 70_37 -1 known silent c.813 p.L271 0.027 pfam_NPIP pfam_NPIP - no_errors NPIPL3 HGNC NPSR1-AS1 404744 genome.wustl.edu 37 7 34800762 34800762 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 34800762 34800762 G A SNP NPSR1-AS1 ENST00000419766 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors NPSR1-AS1 HGNC NPY6R 4888 genome.wustl.edu 37 5 137144191 137144191 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 137144191 137144191 C T SNP NPY6R ENST00000510937 human ensembl 70_37 +1 known rna NULL NULL 0.427 - - - no_errors NPY6R HGNC NRAP 4892 genome.wustl.edu 37 10 115364418 115364418 + Nonsense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 115364418 115364418 C A SNP NRAP ENST00000369358 human ensembl 70_37 -1 known nonsense c.4201 p.E1401* 0.996 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC NRAP 4892 genome.wustl.edu 37 10 115401164 115401164 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 115401164 115401164 C T SNP NRAP ENST00000369358 human ensembl 70_37 -1 known missense c.1283 p.R428H 1.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC NRK 203447 genome.wustl.edu 37 X 105168739 105168739 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 105168739 105168739 C T SNP NRK ENST00000428173 human ensembl 70_37 +1 known missense c.3031 p.R1011C 0.001 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors NRK HGNC NSUN2 54888 genome.wustl.edu 37 5 6632788 6632788 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 6632788 6632788 C T SNP NSUN2 ENST00000264670 human ensembl 70_37 -1 known missense c.178 p.E60K 0.974 NULL pfam_Fmu/NOL1/Nop2p,prints_RCMT,prints_RCMT_NCL1 - no_errors NSUN2 HGNC NUGGC 389643 genome.wustl.edu 37 8 27918098 27918098 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 27918098 27918098 C G SNP NUGGC ENST00000341513 human ensembl 70_37 -1 known silent c.942 p.V314 0.736 pfam_Dynamin_GTPase pfam_Dynamin_GTPase - no_errors NUGGC HGNC NUP205 23165 genome.wustl.edu 37 7 135300800 135300800 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 135300800 135300800 G A SNP NUP205 ENST00000285968 human ensembl 70_37 +1 known silent c.3447 p.V1149 1.000 pfam_DUF3414 pfam_DUF3414 - no_errors NUP205 HGNC OCIAD1 54940 genome.wustl.edu 37 4 48859304 48859304 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 48859304 48859304 G C SNP OCIAD1 ENST00000264312 human ensembl 70_37 +1 known missense c.622 p.E208Q 1.000 NULL pfam_OCIA - no_errors OCIAD1 HGNC OFD1 8481 genome.wustl.edu 37 X 13779245 13779245 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 13779245 13779245 G C SNP OFD1 ENST00000340096 human ensembl 70_37 +1 known missense c.2302 p.D768H 0.008 NULL superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors OFD1 HGNC OLFM3 118427 genome.wustl.edu 37 1 102271722 102271722 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 102271722 102271722 C T SNP OLFM3 ENST00000338858 human ensembl 70_37 -1 known missense c.669 p.M223I 1.000 pfam_Olfac-like,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM3 HGNC OR10G3 26533 genome.wustl.edu 37 14 22037976 22037976 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 22037976 22037976 C G SNP OR10G3 ENST00000303532 human ensembl 70_37 -1 known silent c.900 p.L300 0.996 NULL pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR10G3 HGNC OR10X1 128367 genome.wustl.edu 37 1 158549459 158549459 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 158549459 158549459 G C SNP OR10X1 ENST00000368150 human ensembl 70_37 -1 known silent c.231 p.L77 0.832 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10X1 HGNC OR10X1 128367 genome.wustl.edu 37 1 158549540 158549540 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 158549540 158549540 G C SNP OR10X1 ENST00000368150 human ensembl 70_37 -1 known silent c.150 p.L50 0.995 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10X1 HGNC OR10X1 128367 genome.wustl.edu 37 1 158549659 158549659 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 158549659 158549659 G C SNP OR10X1 ENST00000368150 human ensembl 70_37 -1 known missense c.31 p.Q11E 0.002 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10X1 HGNC OR1D2 4991 genome.wustl.edu 37 17 2995364 2995364 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 2995364 2995364 C G SNP OR1D2 ENST00000331459 human ensembl 70_37 -1 known missense c.927 p.K309N 0.005 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1D2 HGNC OR1D2 4991 genome.wustl.edu 37 17 2995386 2995386 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 2995386 2995386 C G SNP OR1D2 ENST00000331459 human ensembl 70_37 -1 known missense c.905 p.R302T 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1D2 HGNC OR1D5 8386 genome.wustl.edu 37 17 2966374 2966374 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 2966374 2966374 G A SNP OR1D5 ENST00000575751 human ensembl 70_37 -1 known silent c.528 p.Y176 0.117 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1D5 HGNC OR2A25 392138 genome.wustl.edu 37 7 143772059 143772059 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 143772059 143772059 C T SNP OR2A25 ENST00000408898 human ensembl 70_37 +1 known silent c.747 p.L249 0.992 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A25 HGNC OR2A5 393046 genome.wustl.edu 37 7 143748007 143748007 + Silent SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 143748007 143748007 C A SNP OR2A5 ENST00000408906 human ensembl 70_37 +1 known silent c.513 p.P171 0.815 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A5 HGNC OR4C46 119749 genome.wustl.edu 37 11 51515606 51515606 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 51515606 51515606 G C SNP OR4C46 ENST00000328188 human ensembl 70_37 +1 known missense c.325 p.E109Q 0.239 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C46 HGNC OR4F6 390648 genome.wustl.edu 37 15 102346624 102346624 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 102346624 102346624 C G SNP OR4F6 ENST00000328882 human ensembl 70_37 +1 known missense c.702 p.F234L 0.001 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 OR4F6 HGNC OR5B21 219968 genome.wustl.edu 37 11 58275515 58275515 + Nonsense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 58275515 58275515 G A SNP OR5B21 ENST00000360374 human ensembl 70_37 -1 known nonsense c.64 p.Q22* 0.131 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5B21 HGNC OR5H15 403274 genome.wustl.edu 37 3 97888151 97888151 + Nonsense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 97888151 97888151 C G SNP OR5H15 ENST00000356526 human ensembl 70_37 +1 known nonsense c.608 p.S203* 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H15 HGNC OR5M8 219484 genome.wustl.edu 37 11 56258535 56258535 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 56258535 56258535 G A SNP OR5M8 ENST00000327216 human ensembl 70_37 -1 known silent c.312 p.I104 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M8 HGNC OR5W2 390148 genome.wustl.edu 37 11 55681343 55681343 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 55681343 55681343 G C SNP OR5W2 ENST00000344514 human ensembl 70_37 -1 known missense c.716 p.S239C 0.850 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5W2 HGNC OR6C68 403284 genome.wustl.edu 37 12 55886453 55886453 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 55886453 55886453 C T SNP OR6C68 ENST00000379662 human ensembl 70_37 +1 known nonsense c.307 p.Q103* 0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C68 HGNC OR8H1 219469 genome.wustl.edu 37 11 56057847 56057847 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 56057847 56057847 G A SNP OR8H1 ENST00000313022 human ensembl 70_37 -1 known missense c.692 p.S231L 0.002 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 OR8H1 HGNC ORC3 23595 genome.wustl.edu 37 6 88367713 88367713 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 88367713 88367713 G C SNP ORC3 ENST00000257789 human ensembl 70_37 +1 known silent c.1671 p.V557 0.999 NULL pfam_ORC3 - no_errors ORC3 HGNC ORM1 5004 genome.wustl.edu 37 9 117086070 117086070 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 117086070 117086070 G C SNP ORM1 ENST00000259396 human ensembl 70_37 +1 known missense c.242 p.R81T 0.002 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,pirsf_A1A_glycop,prints_A1A_glycop pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,pirsf_A1A_glycop,prints_A1A_glycop - no_errors ORM1 HGNC OSBP 5007 genome.wustl.edu 37 11 59344396 59344396 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 59344396 59344396 C A SNP OSBP ENST00000263847 human ensembl 70_37 -1 known missense c.2163 p.Q721H 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP HGNC OSGIN1 29948 genome.wustl.edu 37 16 83999202 83999202 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 83999202 83999202 C T SNP OSGIN1 ENST00000361711 human ensembl 70_37 +1 known nonsense c.1024 p.Q342* 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors OSGIN1 HGNC PADI3 51702 genome.wustl.edu 37 1 17596733 17596733 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 17596733 17596733 G A SNP PADI3 ENST00000375460 human ensembl 70_37 +1 known missense c.658 p.E220K 0.068 pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI3 HGNC PAK4 10298 genome.wustl.edu 37 19 39666057 39666057 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 39666057 39666057 C T SNP PAK4 ENST00000358301 human ensembl 70_37 +1 known silent c.1338 p.I446 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_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK4 HGNC PALB2 79728 genome.wustl.edu 37 16 23647106 23647106 + Nonsense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 23647106 23647106 G C SNP PALB2 ENST00000261584 human ensembl 70_37 -1 known nonsense c.761 p.S254* 0.000 NULL superfamily_WD40_repeat_dom - no_errors PALB2 HGNC PAQR5 54852 genome.wustl.edu 37 15 69652359 69652359 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 69652359 69652359 G C SNP PAQR5 ENST00000561027 human ensembl 70_37 +1 known rna NULL NULL 0.218 - - - no_errors PAQR5 HGNC PARP14 54625 genome.wustl.edu 37 3 122432725 122432725 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 122432725 122432725 C G SNP PARP14 ENST00000474629 human ensembl 70_37 +1 known missense c.3776 p.S1259C 1.000 pfam_A1pp,smart_A1pp,pfscan_A1pp pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC PASK 23178 genome.wustl.edu 37 2 242047684 242047684 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 242047684 242047684 G A SNP PASK ENST00000358649 human ensembl 70_37 -1 known silent c.3586 p.L1196 0.999 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_PAS_fold,superfamily_Kinase-like_dom,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_cat_dom,tigrfam_PAS - no_errors PASK HGNC PBX3 5090 genome.wustl.edu 37 9 128697785 128697785 + Nonsense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 128697785 128697785 G T SNP PBX3 ENST00000373489 human ensembl 70_37 +1 known nonsense c.742 p.E248* 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PBX3 HGNC PCCA 5095 genome.wustl.edu 37 13 100741455 100741455 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 100741455 100741455 G A SNP PCCA ENST00000376285 human ensembl 70_37 +1 known silent c.81 p.L27 0.003 superfamily_PreATP-grasp_fold pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl - no_errors PCCA HGNC PCDH10 57575 genome.wustl.edu 37 4 134073539 134073539 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 134073539 134073539 C T SNP PCDH10 ENST00000264360 human ensembl 70_37 +1 known silent c.2244 p.I748 0.988 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC PCDH15 65217 genome.wustl.edu 37 10 55949126 55949126 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 55949126 55949126 G A SNP PCDH15 ENST00000409834 human ensembl 70_37 -1 putative missense c.136 p.P46S 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDH15 HGNC PCDHB1 29930 genome.wustl.edu 37 5 140433012 140433012 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 140433012 140433012 C T SNP PCDHB1 ENST00000306549 human ensembl 70_37 +1 known missense c.1957 p.L653F 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC PCDHGA2 56113 genome.wustl.edu 37 5 140719441 140719441 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 140719441 140719441 G C SNP PCDHGA2 ENST00000394576 human ensembl 70_37 +1 known silent c.903 p.L301 0.019 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA2 HGNC PCLO 27445 genome.wustl.edu 37 7 82585820 82585820 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 82585820 82585820 G C SNP PCLO ENST00000333891 human ensembl 70_37 -1 known missense c.4449 p.S1483R 0.082 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC PCLO 27445 genome.wustl.edu 37 7 82585825 82585825 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 82585825 82585825 C G SNP PCLO ENST00000333891 human ensembl 70_37 -1 known missense c.4444 p.D1482H 0.606 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC PCNXL2 80003 genome.wustl.edu 37 1 233431150 233431150 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 233431150 233431150 C T SNP PCNXL2 ENST00000258229 human ensembl 70_37 -1 known silent c.75 p.P25 0.084 NULL pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC PDE4B 5142 genome.wustl.edu 37 1 66384365 66384365 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 66384365 66384365 G A SNP PDE4B ENST00000329654 human ensembl 70_37 +1 known missense c.128 p.R43K 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC PDILT 204474 genome.wustl.edu 37 16 20371898 20371898 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 20371898 20371898 C T SNP PDILT ENST00000302451 human ensembl 70_37 -1 known missense c.1498 p.E500K 0.052 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors PDILT HGNC PDS5B 23047 genome.wustl.edu 37 13 33222994 33222994 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 33222994 33222994 G C SNP PDS5B ENST00000315596 human ensembl 70_37 +1 known missense c.85 p.E29Q 1.000 NULL superfamily_ARM-type_fold - no_errors PDS5B HGNC PDXDC1 23042 genome.wustl.edu 37 16 15120537 15120537 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 15120537 15120537 G A SNP PDXDC1 ENST00000396410 human ensembl 70_37 +1 known missense c.1178 p.R393K 0.999 superfamily_PyrdxlP-dep_Trfase_major_dom pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors PDXDC1 HGNC PDZD7 79955 genome.wustl.edu 37 10 102778941 102778941 + Missense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 102778941 102778941 G T SNP PDZD7 ENST00000370215 human ensembl 70_37 -1 known missense c.962 p.A321D 0.988 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD7 HGNC PDZRN4 29951 genome.wustl.edu 37 12 41871723 41871723 + Splice_Site SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 41871723 41871723 G C SNP PDZRN4 ENST00000298919 human ensembl 70_37 +1 known splice_site c.63+1 e2+1 0.002 - - - no_errors PDZRN4 HGNC PEAK1 79834 genome.wustl.edu 37 15 77473769 77473769 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 77473769 77473769 C T SNP PEAK1 ENST00000312493 human ensembl 70_37 -1 known missense c.500 p.G167E 0.754 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors PEAK1 Uniprot_genename PEG3 5178 genome.wustl.edu 37 19 57333033 57333033 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 57333033 57333033 C G SNP PEG3 ENST00000326441 human ensembl 70_37 -1 known missense c.655 p.E219Q 0.013 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC PEX5 5830 genome.wustl.edu 37 12 7356091 7356091 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 7356091 7356091 G A SNP PEX5 ENST00000434354 human ensembl 70_37 +1 known missense c.955 p.E319K 1.000 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5 HGNC PGAP1 80055 genome.wustl.edu 37 2 197777621 197777621 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 197777621 197777621 C T SNP PGAP1 ENST00000354764 human ensembl 70_37 -1 known missense c.634 p.D212N 1.000 pfam_PGAP1-like pfam_PGAP1-like - no_errors PGAP1 HGNC PGCP1 441897 genome.wustl.edu 37 1 111927180 111927180 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 111927180 111927180 C T SNP PGCP1 ENST00000411951 human ensembl 70_37 -1 known rna NULL NULL 0.937 - - - no_errors PGCP1 HGNC PGK2 5232 genome.wustl.edu 37 6 49754286 49754286 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 49754286 49754286 C T SNP PGK2 ENST00000304801 human ensembl 70_37 -1 known silent c.615 p.V205 1.000 pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase - no_errors PGK2 HGNC PHC2 1912 genome.wustl.edu 37 1 33833011 33833011 + Nonsense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 33833011 33833011 G A SNP PHC2 ENST00000419414 human ensembl 70_37 -1 known nonsense c.682 p.R228* 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC2 HGNC PHEX 5251 genome.wustl.edu 37 X 22239804 22239804 + Missense_Mutation SNP A A G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 22239804 22239804 A G SNP PHEX ENST00000379374 human ensembl 70_37 +1 known missense c.1843 p.T615A 1.000 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors PHEX HGNC PHF17 79960 genome.wustl.edu 37 4 129776799 129776799 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 129776799 129776799 C T SNP PHF17 ENST00000226319 human ensembl 70_37 +1 known silent c.711 p.I237 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF17 HGNC PHF20L1 51105 genome.wustl.edu 37 8 133806714 133806714 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 133806714 133806714 G C SNP PHF20L1 ENST00000315808 human ensembl 70_37 +1 known missense c.142 p.E48Q 1.000 smart_Tudor,smart_Tudor-like_plant pfam_DUF3776,smart_Tudor,smart_Tudor-like_plant - no_errors PHF20L1 HGNC PHKA2 5256 genome.wustl.edu 37 X 18969235 18969235 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 18969235 18969235 C T SNP PHKA2 ENST00000379942 human ensembl 70_37 -1 known silent c.441 p.Q147 1.000 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC PHLDA3 23612 genome.wustl.edu 37 1 201437540 201437540 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 201437540 201437540 G C SNP PHLDA3 ENST00000367309 human ensembl 70_37 -1 known silent c.375 p.L125 0.805 NULL smart_Pleckstrin_homology - no_errors PHLDA3 HGNC PI4KA 5297 genome.wustl.edu 37 22 21119958 21119958 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 21119958 21119958 G A SNP PI4KA ENST00000255882 human ensembl 70_37 -1 known silent c.2352 p.I784 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC PIFO 128344 genome.wustl.edu 37 1 111891340 111891340 + RNA SNP A A C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 111891340 111891340 A C SNP PIFO ENST00000484512 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PIFO HGNC PIGV 55650 genome.wustl.edu 37 1 27117354 27117354 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 27117354 27117354 C T SNP PIGV ENST00000078527 human ensembl 70_37 +1 known silent c.48 p.V16 0.129 pfam_GPI_Mannosyltransferase_2-like pfam_GPI_Mannosyltransferase_2-like - no_errors PIGV HGNC PIH1D2 120379 genome.wustl.edu 37 11 111942361 111942361 + Nonsense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 111942361 111942361 G C SNP PIH1D2 ENST00000280350 human ensembl 70_37 -1 known nonsense c.299 p.S100* 1.000 pfam_PIH pfam_PIH - no_errors PIH1D2 HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PKHD1 5314 genome.wustl.edu 37 6 51712645 51712645 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 51712645 51712645 G C SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known missense c.8035 p.L2679V 0.042 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC PKHD1 5314 genome.wustl.edu 37 6 51735351 51735351 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 51735351 51735351 G A SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known silent c.7437 p.L2479 0.000 smart_PbH1 pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC PKHD1 5314 genome.wustl.edu 37 6 51751999 51751999 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 51751999 51751999 G C SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known silent c.7041 p.L2347 0.989 superfamily_Pectin_lyase_fold/virulence,smart_PbH1 pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC PKHD1 5314 genome.wustl.edu 37 6 51907736 51907736 + Silent SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 51907736 51907736 G T SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known silent c.3018 p.I1006 0.027 superfamily_Ig_E-set pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC PKP2 5318 genome.wustl.edu 37 12 32996150 32996150 + Silent SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 32996150 32996150 C A SNP PKP2 ENST00000070846 human ensembl 70_37 -1 known silent c.1476 p.T492 0.001 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP2 HGNC PLAC9 219348 genome.wustl.edu 37 10 81904097 81904098 + In_Frame_Ins INS - - AGA TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 81904097 81904098 - AGA INS PLAC9 ENST00000372263 human ensembl 70_37 +1 known in_frame_ins c.281_282 p.95in_frame_insE 0.062:0.007 NULL NULL - no_errors PLAC9 HGNC PLCD4 84812 genome.wustl.edu 37 2 219494347 219494347 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 219494347 219494347 C G SNP PLCD4 ENST00000417849 human ensembl 70_37 +1 known missense c.1080 p.F360L 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD4 HGNC PLCE1 51196 genome.wustl.edu 37 10 95931118 95931118 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 95931118 95931118 C G SNP PLCE1 ENST00000371380 human ensembl 70_37 +1 known missense c.1674 p.F558L 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC PLCL2 23228 genome.wustl.edu 37 3 17052159 17052159 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 17052159 17052159 C T SNP PLCL2 ENST00000418129 human ensembl 70_37 +1 known missense c.943 p.H315Y 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL2 HGNC PLEKHH2 130271 genome.wustl.edu 37 2 43958683 43958683 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 43958683 43958683 C A SNP PLEKHH2 ENST00000282406 human ensembl 70_37 +1 known missense c.2885 p.S962Y 0.950 smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH2 HGNC PNPLA7 375775 genome.wustl.edu 37 9 140400156 140400156 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 140400156 140400156 C T SNP PNPLA7 ENST00000406427 human ensembl 70_37 -1 known silent c.1383 p.E461 0.002 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC PNPLA8 50640 genome.wustl.edu 37 7 108154978 108154978 + Nonsense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 108154978 108154978 G A SNP PNPLA8 ENST00000257694 human ensembl 70_37 -1 known nonsense c.958 p.Q320* 0.366 NULL pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_ARM-type_fold - no_errors PNPLA8 HGNC PNPT1 87178 genome.wustl.edu 37 2 55883471 55883471 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 55883471 55883471 G A SNP PNPT1 ENST00000415374 human ensembl 70_37 -1 known silent c.1320 p.V440 0.951 pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_PNPase,tigrfam_PNPase pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,pfam_PNPase_PH_RNA-bd_bac/org-type,pfam_KH_dom_type_1,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2,superfamily_PNPase_PH_RNA-bd_bac/org-type,superfamily_NA-bd_OB-fold-like,smart_KH_dom,smart_RNA-binding_domain_S1,pirsf_PNPase,pfscan_KH_dom_type_1,pfscan_Rbsml_prot_S1_RNA-bd_dom,tigrfam_PNPase - no_errors PNPT1 HGNC POC1A 25886 genome.wustl.edu 37 3 52159161 52159161 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 52159161 52159161 C T SNP POC1A ENST00000296484 human ensembl 70_37 -1 known missense c.850 p.E284K 0.997 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors POC1A HGNC POLQ 10721 genome.wustl.edu 37 3 121263718 121263718 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 121263718 121263718 C G SNP POLQ ENST00000264233 human ensembl 70_37 -1 known missense c.199 p.D67H 1.000 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC POLR2M 81488 genome.wustl.edu 37 15 57999317 57999317 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 57999317 57999317 G A SNP POLR2M ENST00000464308 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors POLR2M HGNC PON2 5445 genome.wustl.edu 37 7 95041658 95041658 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 95041658 95041658 G C SNP PON2 ENST00000536183 human ensembl 70_37 -1 known missense c.396 p.F132L 0.998 NULL pfam_Arylesterase,pfam_SGL,prints_Arylesterase,prints_Paraoxonase2 - no_errors PON2 HGNC PPARA 5465 genome.wustl.edu 37 22 46631032 46631032 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 46631032 46631032 C T SNP PPARA ENST00000262735 human ensembl 70_37 +1 known missense c.1162 p.R388C 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors PPARA HGNC PPBP 5473 genome.wustl.edu 37 4 74853301 74853301 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 74853301 74853301 G A SNP PPBP ENST00000296028 human ensembl 70_37 -1 known missense c.217 p.H73Y 0.007 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC - no_errors PPBP HGNC PPEF1 5475 genome.wustl.edu 37 X 18845465 18845465 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 18845465 18845465 G C SNP PPEF1 ENST00000361511 human ensembl 70_37 +1 known missense c.1822 p.D608H 1.000 pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_HAND_2 pfam_Metallo_PEstase_dom,pfam_EF-hand,pfam_PPP_dom,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_HAND_2,pfscan_IQ_motif_EF-hand-BS,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPEF1 HGNC PPM1F 9647 genome.wustl.edu 37 22 22287817 22287817 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 22287817 22287817 G C SNP PPM1F ENST00000263212 human ensembl 70_37 -1 known silent c.693 p.L231 0.000 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1F HGNC PPP1R12A 4659 genome.wustl.edu 37 12 80187678 80187678 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 80187678 80187678 C G SNP PPP1R12A ENST00000261207 human ensembl 70_37 -1 known missense c.2614 p.D872H 1.000 pirsf_Pase-1_reg_su_12A/B/C_euk pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12A HGNC PPP1R26 9858 genome.wustl.edu 37 9 138379815 138379815 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 138379815 138379815 G C SNP PPP1R26 ENST00000356818 human ensembl 70_37 +1 known silent c.3459 p.L1153 0.000 NULL NULL - no_errors PPP1R26 HGNC PPP2R2B 5521 genome.wustl.edu 37 5 146070736 146070736 + Missense_Mutation SNP A A C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 146070736 146070736 A C SNP PPP2R2B ENST00000394414 human ensembl 70_37 -1 known missense c.600 p.D200E 1.000 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2B HGNC PPP2R2B 5521 genome.wustl.edu 37 5 146070742 146070742 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 146070742 146070742 C T SNP PPP2R2B ENST00000394414 human ensembl 70_37 -1 known silent c.594 p.L198 1.000 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2B HGNC PPP3CB 5532 genome.wustl.edu 37 10 75198056 75198056 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 75198056 75198056 G A SNP PPP3CB ENST00000394829 human ensembl 70_37 -1 known silent c.1522 p.L508 1.000 NULL pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CB HGNC PRAMEF1 65121 genome.wustl.edu 37 1 12855773 12855773 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 12855773 12855773 C G SNP PRAMEF1 ENST00000332296 human ensembl 70_37 +1 known silent c.1053 p.L351 0.000 NULL NULL - no_errors PRAMEF1 HGNC PRAMEF7 441871 genome.wustl.edu 37 1 12979845 12979845 + Missense_Mutation SNP T T C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 12979845 12979845 T C SNP PRAMEF7 ENST00000330881 human ensembl 70_37 +1 known missense c.1037 p.V346A 0.001 NULL NULL - no_errors PRAMEF7 HGNC PRC1 9055 genome.wustl.edu 37 15 91522427 91522427 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 91522427 91522427 C G SNP PRC1 ENST00000394249 human ensembl 70_37 -1 known missense c.1068 p.Q356H 0.998 pfam_MAP65_Ase1_PRC1 pfam_MAP65_Ase1_PRC1 - no_errors PRC1 HGNC PRDM15 63977 genome.wustl.edu 37 21 43223066 43223066 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 21 43223066 43223066 C T SNP PRDM15 ENST00000269844 human ensembl 70_37 -1 known missense c.3847 p.E1283K 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC PRDM2 7799 genome.wustl.edu 37 1 14107618 14107618 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 14107618 14107618 C G SNP PRDM2 ENST00000235372 human ensembl 70_37 +1 known missense c.3328 p.L1110V 0.002 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC PRDM7 11105 genome.wustl.edu 37 16 90124847 90124847 + Nonsense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 90124847 90124847 G C SNP PRDM7 ENST00000325921 human ensembl 70_37 -1 known nonsense c.428 p.S143* 0.066 NULL NULL - no_errors PRDM7 HGNC PRKAB2 5565 genome.wustl.edu 37 1 146631137 146631137 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 146631137 146631137 G A SNP PRKAB2 ENST00000496858 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors PRKAB2 HGNC PRKCH 5583 genome.wustl.edu 37 14 61789110 61789110 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 61789110 61789110 C G SNP PRKCH ENST00000332981 human ensembl 70_37 +1 known missense c.291 p.F97L 0.996 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pirsf_Prot_kin_PKC_delta,pfscan_C2_membr_targeting pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKCH HGNC PRKD2 25865 genome.wustl.edu 37 19 47197277 47197277 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 47197277 47197277 G A SNP PRKD2 ENST00000291281 human ensembl 70_37 -1 known silent c.1431 p.F477 0.953 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKD2 HGNC PROS1 5627 genome.wustl.edu 37 3 93595938 93595938 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 93595938 93595938 C T SNP PROS1 ENST00000394236 human ensembl 70_37 -1 known missense c.1742 p.R581K 0.976 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors PROS1 HGNC PRPF40A 55660 genome.wustl.edu 37 2 153533990 153533990 + Splice_Site SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 153533990 153533990 C T SNP PRPF40A ENST00000410080 human ensembl 70_37 -1 known splice_site c.632-1 e9-1 1.000 - - - no_errors PRPF40A HGNC PRPF8 10594 genome.wustl.edu 37 17 1556852 1556852 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 1556852 1556852 G C SNP PRPF8 ENST00000304992 human ensembl 70_37 -1 known missense c.6353 p.S2118C 1.000 pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1 - no_errors PRPF8 HGNC PRR12 57479 genome.wustl.edu 37 19 50119130 50119130 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 50119130 50119130 G C SNP PRR12 ENST00000418929 human ensembl 70_37 +1 novel missense c.5151 p.Q1717H 0.241 NULL NULL - no_errors PRR12 HGNC PRRC2C 23215 genome.wustl.edu 37 1 171526764 171526764 + Nonsense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 171526764 171526764 C G SNP PRRC2C ENST00000392078 human ensembl 70_37 +1 known nonsense c.5513 p.S1838* 0.032 NULL pfam_BAT2_N - no_errors PRRC2C HGNC PSD2 84249 genome.wustl.edu 37 5 139201535 139201535 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 139201535 139201535 C T SNP PSD2 ENST00000274710 human ensembl 70_37 +1 known silent c.1155 p.L385 0.000 pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7 pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type - no_errors PSD2 HGNC PSME3 10197 genome.wustl.edu 37 17 40985912 40985912 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 40985912 40985912 C G SNP PSME3 ENST00000592578 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PSME3 HGNC PSTPIP2 9050 genome.wustl.edu 37 18 43619965 43619965 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 43619965 43619965 G C SNP PSTPIP2 ENST00000409746 human ensembl 70_37 -1 known missense c.82 p.L28V 0.999 pfam_FCH,smart_FCH,pfscan_FCH pfam_FCH,smart_FCH,pfscan_FCH - no_errors PSTPIP2 HGNC PTAFR 5724 genome.wustl.edu 37 1 28476822 28476822 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 28476822 28476822 G A SNP PTAFR ENST00000305392 human ensembl 70_37 -1 known silent c.711 p.V237 0.439 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_PAF_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors PTAFR HGNC PTEN 5728 genome.wustl.edu 37 10 89711893 89711893 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 89711893 89711893 C T SNP PTEN ENST00000371953 human ensembl 70_37 +1 known nonsense c.511 p.Q171* 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC PTPN21 11099 genome.wustl.edu 37 14 88945915 88945915 + Silent SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 88945915 88945915 G T SNP PTPN21 ENST00000328736 human ensembl 70_37 -1 known silent c.1860 p.V620 0.981 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC PTPRF 5792 genome.wustl.edu 37 1 44087718 44087718 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 44087718 44087718 G A SNP PTPRF ENST00000477970 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PTPRF HGNC PTPRG 5793 genome.wustl.edu 37 3 62180801 62180801 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 62180801 62180801 G A SNP PTPRG ENST00000474889 human ensembl 70_37 +1 known silent c.1284 p.R428 0.694 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC PTPRN2 5799 genome.wustl.edu 37 7 157333463 157333463 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 157333463 157333463 G A SNP PTPRN2 ENST00000404321 human ensembl 70_37 -1 known missense c.3062 p.A1021V 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC PTPRT 11122 genome.wustl.edu 37 20 41400150 41400150 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 41400150 41400150 C T SNP PTPRT ENST00000373198 human ensembl 70_37 -1 known silent c.609 p.V203 0.999 pfscan_Ig-like pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC PTPRT 11122 genome.wustl.edu 37 20 41408922 41408922 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 41408922 41408922 G C SNP PTPRT ENST00000373198 human ensembl 70_37 -1 known silent c.504 p.V168 0.998 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC PUM2 23369 genome.wustl.edu 37 2 20512059 20512059 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 20512059 20512059 C G SNP PUM2 ENST00000361078 human ensembl 70_37 -1 known missense c.286 p.E96Q 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM2 HGNC PZP 5858 genome.wustl.edu 37 12 9355190 9355190 + Missense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 9355190 9355190 G T SNP PZP ENST00000261336 human ensembl 70_37 -1 known missense c.358 p.L120M 0.002 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC RAB13 5872 genome.wustl.edu 37 1 153957217 153957217 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 153957217 153957217 C G SNP RAB13 ENST00000368575 human ensembl 70_37 -1 known missense c.165 p.K55N 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB13 HGNC RAB14 51552 genome.wustl.edu 37 9 123943695 123943695 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 123943695 123943695 C T SNP RAB14 ENST00000373840 human ensembl 70_37 -1 known silent c.627 p.Q209 1.000 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB14 HGNC RAB2B 84932 genome.wustl.edu 37 14 21936574 21936574 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 21936574 21936574 C G SNP RAB2B ENST00000397762 human ensembl 70_37 -1 known missense c.304 p.E102Q 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB2B HGNC RAB8A 4218 genome.wustl.edu 37 19 16229068 16229068 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 16229068 16229068 G A SNP RAB8A ENST00000300935 human ensembl 70_37 +1 known missense c.157 p.D53N 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB8A HGNC RAD54B 25788 genome.wustl.edu 37 8 95390835 95390835 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 95390835 95390835 G C SNP RAD54B ENST00000336148 human ensembl 70_37 -1 known missense c.2275 p.Q759E 1.000 pfam_HDA_complex_subunit-2/3,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54B HGNC RAD54B 25788 genome.wustl.edu 37 8 95470638 95470638 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 95470638 95470638 G A SNP RAD54B ENST00000336148 human ensembl 70_37 -1 known silent c.162 p.L54 0.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54B HGNC RAI2 10742 genome.wustl.edu 37 X 17819933 17819933 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 17819933 17819933 C T SNP RAI2 ENST00000331511 human ensembl 70_37 -1 known silent c.198 p.Q66 1.000 NULL NULL - no_errors RAI2 HGNC RALGAPB 57148 genome.wustl.edu 37 20 37195831 37195831 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 37195831 37195831 G C SNP RALGAPB ENST00000262879 human ensembl 70_37 +1 known missense c.3910 p.E1304Q 1.000 pfscan_Rap_GAP superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPB HGNC RAMP2 10266 genome.wustl.edu 37 17 40914675 40914675 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 40914675 40914675 C T SNP RAMP2 ENST00000588576 human ensembl 70_37 +1 putative missense c.224 p.S75F 1.000 NULL NULL - no_errors RAMP2 HGNC RAMP2 10266 genome.wustl.edu 37 17 40914699 40914699 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 40914699 40914699 C T SNP RAMP2 ENST00000588576 human ensembl 70_37 +1 putative missense c.248 p.S83L 0.996 NULL NULL - no_errors RAMP2 HGNC RAPGEF6 51735 genome.wustl.edu 37 5 130846163 130846163 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 130846163 130846163 C T SNP RAPGEF6 ENST00000509018 human ensembl 70_37 -1 known missense c.649 p.D217N 1.000 NULL pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF6 HGNC RASAL1 8437 genome.wustl.edu 37 12 113537723 113537723 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 113537723 113537723 C G SNP RASAL1 ENST00000549444 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors RASAL1 HGNC RASGRP2 10235 genome.wustl.edu 37 11 64508520 64508520 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 64508520 64508520 C G SNP RASGRP2 ENST00000377494 human ensembl 70_37 -1 known missense c.271 p.D91H 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRP2 HGNC RAVER1 125950 genome.wustl.edu 37 19 10432283 10432283 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 10432283 10432283 G C SNP RAVER1 ENST00000293677 human ensembl 70_37 -1 known missense c.1236 p.I412M 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RAVER1 HGNC RB1 5925 genome.wustl.edu 37 13 49039158 49039158 + Nonsense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 49039158 49039158 G T SNP RB1 ENST00000267163 human ensembl 70_37 +1 known nonsense c.2236 p.E746* 1.000 pfam_RB_B,superfamily_Cyclin-like,smart_Cyclin-like pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like - no_errors RB1 HGNC RB1 5925 genome.wustl.edu 37 13 49039374 49039374 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 49039374 49039374 C T SNP RB1 ENST00000267163 human ensembl 70_37 +1 known nonsense c.2359 p.R787* 1.000 pfam_Rb_C pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like - no_errors RB1 HGNC RBM6 10180 genome.wustl.edu 37 3 50098409 50098409 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 50098409 50098409 C G SNP RBM6 ENST00000266022 human ensembl 70_37 +1 known missense c.2249 p.S750C 1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC RBM6 10180 genome.wustl.edu 37 3 50114561 50114561 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 50114561 50114561 G A SNP RBM6 ENST00000266022 human ensembl 70_37 +1 known missense c.3367 p.D1123N 0.997 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC RERGL 79785 genome.wustl.edu 37 12 18238577 18238577 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 18238577 18238577 C G SNP RERGL ENST00000229002 human ensembl 70_37 -1 known missense c.163 p.E55Q 1.000 pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type - no_errors RERGL HGNC REXO1 57455 genome.wustl.edu 37 19 1817261 1817261 + Nonsense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 1817261 1817261 G C SNP REXO1 ENST00000170168 human ensembl 70_37 -1 known nonsense c.3158 p.S1053* 0.031 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1 HGNC RFFL 117584 genome.wustl.edu 37 17 33348523 33348523 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 33348523 33348523 G C SNP RFFL ENST00000315249 human ensembl 70_37 -1 known missense c.458 p.P153R 0.002 NULL superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING - no_errors RFFL HGNC RFPL2 10739 genome.wustl.edu 37 22 32586724 32586724 + RNA SNP T T G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 32586724 32586724 T G SNP RFPL2 ENST00000489846 human ensembl 70_37 -1 putative rna NULL NULL 0.003 - - - no_errors RFPL2 HGNC RGPD4 285190 genome.wustl.edu 37 2 108443522 108443522 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 108443522 108443522 C A SNP RGPD4 ENST00000354986 human ensembl 70_37 +1 known missense c.53 p.S18Y 0.587 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC RGPD8 727851 genome.wustl.edu 37 2 113157331 113157331 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 113157331 113157331 C G SNP RGPD8 ENST00000302558 human ensembl 70_37 -1 known missense c.1933 p.E645Q 0.891 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD8 HGNC RHOBTB2 23221 genome.wustl.edu 37 8 22862930 22862930 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 22862930 22862930 C T SNP RHOBTB2 ENST00000251822 human ensembl 70_37 +1 known silent c.238 p.L80 1.000 pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC RIOK3 8780 genome.wustl.edu 37 18 21061177 21061177 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 21061177 21061177 G A SNP RIOK3 ENST00000339486 human ensembl 70_37 +1 known silent c.1494 p.K498 1.000 pirsf_Ser/Thr_kinase_Rio3 pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio3 - no_errors RIOK3 HGNC RLTPR 146206 genome.wustl.edu 37 16 67685860 67685860 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 67685860 67685860 G C SNP RLTPR ENST00000334583 human ensembl 70_37 +1 known missense c.2625 p.E875D 0.994 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC RMI1 80010 genome.wustl.edu 37 9 86617085 86617085 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 86617085 86617085 G C SNP RMI1 ENST00000325875 human ensembl 70_37 +1 known missense c.1184 p.R395T 0.724 NULL pfam_DUF1767 - no_errors RMI1 HGNC RND2 8153 genome.wustl.edu 37 17 41178062 41178062 + Nonsense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 41178062 41178062 C G SNP RND2 ENST00000544533 human ensembl 70_37 +1 known nonsense c.188 p.S63* 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RND2 HGNC RNF213 57674 genome.wustl.edu 37 17 78336962 78336962 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 78336962 78336962 G A SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known missense c.11416 p.E3806K 0.008 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC RNF43 54894 genome.wustl.edu 37 17 56435412 56435412 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 56435412 56435412 G A SNP RNF43 ENST00000407977 human ensembl 70_37 -1 known silent c.1725 p.V575 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC RORC 6097 genome.wustl.edu 37 1 151785550 151785550 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 151785550 151785550 G A SNP RORC ENST00000480719 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RORC HGNC RP1L1 94137 genome.wustl.edu 37 8 10469371 10469371 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 10469371 10469371 G A SNP RP1L1 ENST00000382483 human ensembl 70_37 -1 known missense c.2237 p.S746L 0.040 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC RPA4 29935 genome.wustl.edu 37 X 96139472 96139472 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 96139472 96139472 C T SNP RPA4 ENST00000373040 human ensembl 70_37 +1 known missense c.163 p.L55F 0.081 superfamily_NA-bd_OB-fold-like,pirsf_RPA32 pfam_RPA_C,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_RPA32 - no_errors RPA4 HGNC RPA4 29935 genome.wustl.edu 37 X 96139479 96139479 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 96139479 96139479 C T SNP RPA4 ENST00000373040 human ensembl 70_37 +1 known missense c.170 p.S57F 0.000 superfamily_NA-bd_OB-fold-like,pirsf_RPA32 pfam_RPA_C,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_RPA32 - no_errors RPA4 HGNC RPA4 29935 genome.wustl.edu 37 X 96139684 96139684 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 96139684 96139684 C T SNP RPA4 ENST00000373040 human ensembl 70_37 +1 known silent c.375 p.V125 0.056 pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_RPA32 pfam_RPA_C,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_RPA32 - no_errors RPA4 HGNC RPA4 29935 genome.wustl.edu 37 X 96139912 96139912 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 96139912 96139912 C T SNP RPA4 ENST00000373040 human ensembl 70_37 +1 known silent c.603 p.I201 0.000 pfam_RPA_C,pirsf_RPA32 pfam_RPA_C,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_RPA32 - no_errors RPA4 HGNC RPA4 29935 genome.wustl.edu 37 X 96139949 96139949 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 96139949 96139949 C T SNP RPA4 ENST00000373040 human ensembl 70_37 +1 known missense c.640 p.H214Y 0.001 pfam_RPA_C,pirsf_RPA32 pfam_RPA_C,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_RPA32 - no_errors RPA4 HGNC RPGR 6103 genome.wustl.edu 37 X 38156567 38156567 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 38156567 38156567 C T SNP RPGR ENST00000378505 human ensembl 70_37 -1 known missense c.1384 p.E462K 0.000 NULL pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC RPS6KB2 6199 genome.wustl.edu 37 11 67200648 67200648 + Nonsense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 67200648 67200648 G A SNP RPS6KB2 ENST00000312629 human ensembl 70_37 +1 known nonsense c.759 p.W253* 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,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom - no_errors RPS6KB2 HGNC RUNX1T1 862 genome.wustl.edu 37 8 92972690 92972690 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 92972690 92972690 G A SNP RUNX1T1 ENST00000436581 human ensembl 70_37 -1 known missense c.1628 p.A543V 1.000 pfam_Znf_MYND,pfscan_Znf_MYND,prints_ETO pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC RUNX1T1 862 genome.wustl.edu 37 8 93027008 93027008 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 93027008 93027008 G A SNP RUNX1T1 ENST00000436581 human ensembl 70_37 -1 known silent c.300 p.G100 0.876 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC RUSC2 9853 genome.wustl.edu 37 9 35546837 35546837 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 35546837 35546837 G A SNP RUSC2 ENST00000361226 human ensembl 70_37 +1 known missense c.319 p.E107K 1.000 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC SACS 26278 genome.wustl.edu 37 13 23907093 23907093 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 23907093 23907093 G C SNP SACS ENST00000382292 human ensembl 70_37 -1 known missense c.10922 p.S3641C 0.783 NULL pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC SAMD4A 23034 genome.wustl.edu 37 14 55231202 55231202 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 55231202 55231202 G A SNP SAMD4A ENST00000392067 human ensembl 70_37 +1 known missense c.1540 p.D514N 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4A HGNC SAMM50 25813 genome.wustl.edu 37 22 44368762 44368762 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 44368762 44368762 C T SNP SAMM50 ENST00000350028 human ensembl 70_37 +1 known silent c.441 p.L147 1.000 NULL pfam_Bac_surfAg_D15 - no_errors SAMM50 HGNC SASS6 163786 genome.wustl.edu 37 1 100598423 100598423 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 100598423 100598423 C T SNP SASS6 ENST00000462159 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors SASS6 HGNC SCARF1 8578 genome.wustl.edu 37 17 1538734 1538734 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 1538734 1538734 C T SNP SCARF1 ENST00000263071 human ensembl 70_37 -1 known missense c.1811 p.R604Q 0.970 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF1 HGNC SCN10A 6336 genome.wustl.edu 37 3 38739815 38739815 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 38739815 38739815 C T SNP SCN10A ENST00000449082 human ensembl 70_37 -1 known silent c.4896 p.V1632 0.019 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC SCO2 9997 genome.wustl.edu 37 22 50962744 50962744 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 50962744 50962744 G C SNP SCO2 ENST00000252785 human ensembl 70_37 -1 known missense c.97 p.L33V 0.000 pirsf_Synth_of_cyt-c-oxidase_Sco1/2 pfam_SCO1/SenC,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2 - no_errors SCO2 HGNC SCRIB 23513 genome.wustl.edu 37 8 144874460 144874460 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 144874460 144874460 C T SNP SCRIB ENST00000320476 human ensembl 70_37 -1 known missense c.4444 p.E1482K 1.000 NULL pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC SDC1 6382 genome.wustl.edu 37 2 20403710 20403710 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 20403710 20403710 G C SNP SDC1 ENST00000254351 human ensembl 70_37 -1 known missense c.491 p.T164S 0.938 pfam_Syndecan pfam_Syndecan,smart_Neurexin-like - no_errors SDC1 HGNC SDHC 6391 genome.wustl.edu 37 1 161284265 161284265 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 161284265 161284265 G C SNP SDHC ENST00000515731 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SDHC HGNC SDK2 54549 genome.wustl.edu 37 17 71354291 71354291 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 71354291 71354291 G A SNP SDK2 ENST00000392650 human ensembl 70_37 -1 known silent c.5520 p.I1840 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK2 HGNC SEC31A 22872 genome.wustl.edu 37 4 83745823 83745823 + Missense_Mutation SNP A A G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 83745823 83745823 A G SNP SEC31A ENST00000432794 human ensembl 70_37 -1 known missense c.3335 p.V1112A 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC SEMA4B 10509 genome.wustl.edu 37 15 90744874 90744874 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 90744874 90744874 C T SNP SEMA4B ENST00000332496 human ensembl 70_37 +1 known missense c.64 p.R22W 0.000 NULL pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA4B HGNC SEPT11 55752 genome.wustl.edu 37 4 77917577 77917577 + Splice_Site SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 77917577 77917577 G C SNP SEPT11 ENST00000541121 human ensembl 70_37 +1 known splice_site c.58-1 e2-1 1.000 - - - no_errors SEPT11 HGNC SERPINA3 12 genome.wustl.edu 37 14 95081252 95081252 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 95081252 95081252 G C SNP SERPINA3 ENST00000553947 human ensembl 70_37 +1 known missense c.549 p.K183N 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA3 HGNC SERPING1 710 genome.wustl.edu 37 11 57379217 57379217 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 57379217 57379217 C G SNP SERPING1 ENST00000278407 human ensembl 70_37 +1 known missense c.1057 p.L353V 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPING1 HGNC SET 6418 genome.wustl.edu 37 9 131457727 131457727 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 131457727 131457727 C T SNP SET ENST00000494141 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SET HGNC SFN 2810 genome.wustl.edu 37 1 27189709 27189709 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 27189709 27189709 G A SNP SFN ENST00000339276 human ensembl 70_37 +1 known silent c.6 p.E2 0.984 superfamily_14-3-3_domain,pirsf_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors SFN HGNC SGK3 23678 genome.wustl.edu 37 8 67748022 67748022 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 67748022 67748022 G C SNP SGK3 ENST00000262211 human ensembl 70_37 +1 known missense c.550 p.D184H 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_Phox,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Phox,pfscan_Prot_kinase_cat_dom - no_errors SGK3 HGNC SGK494 124923 genome.wustl.edu 37 17 26938458 26938458 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 26938458 26938458 C T SNP SGK494 ENST00000301037 human ensembl 70_37 -1 known missense c.853 p.D285N 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors SGK494 Uniprot_genename SHARPIN 81858 genome.wustl.edu 37 8 145154745 145154745 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 145154745 145154745 C G SNP SHARPIN ENST00000398712 human ensembl 70_37 -1 known missense c.520 p.E174Q 1.000 NULL pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors SHARPIN HGNC SHD 56961 genome.wustl.edu 37 19 4280112 4280112 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 4280112 4280112 C T SNP SHD ENST00000543264 human ensembl 70_37 +1 known missense c.52 p.P18S 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHD HGNC SHISA2 387914 genome.wustl.edu 37 13 26621171 26621171 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 26621171 26621171 G A SNP SHISA2 ENST00000319420 human ensembl 70_37 -1 known missense c.368 p.S123F 1.000 NULL NULL - no_errors SHISA2 HGNC SHPRH 257218 genome.wustl.edu 37 6 146264850 146264850 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 146264850 146264850 G A SNP SHPRH ENST00000367503 human ensembl 70_37 -1 known missense c.1667 p.S556F 0.997 smart_Helicase_ATP-bd pfam_SNF2_N,pfam_Histone_H1/H5,superfamily_Znf_FYVE_PHD,superfamily_WW_Rsp5_WWP,smart_Helicase_ATP-bd,smart_Histone_H1/H5,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC SHROOM2 357 genome.wustl.edu 37 X 9864180 9864180 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 9864180 9864180 C T SNP SHROOM2 ENST00000380913 human ensembl 70_37 +1 known silent c.2232 p.H744 0.002 pfam_ASD1 pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC SLC17A8 246213 genome.wustl.edu 37 12 100796201 100796201 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 100796201 100796201 G A SNP SLC17A8 ENST00000323346 human ensembl 70_37 +1 known missense c.847 p.E283K 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A8 HGNC SLC22A12 116085 genome.wustl.edu 37 11 64366018 64366018 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 64366018 64366018 C T SNP SLC22A12 ENST00000377574 human ensembl 70_37 +1 known silent c.861 p.L287 0.321 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A12 HGNC SLC22A12 116085 genome.wustl.edu 37 11 64366282 64366282 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 64366282 64366282 C G SNP SLC22A12 ENST00000377574 human ensembl 70_37 +1 known silent c.957 p.V319 0.003 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A12 HGNC SLC22A20 440044 genome.wustl.edu 37 11 64993027 64993027 + RNA SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 64993027 64993027 G T SNP SLC22A20 ENST00000525264 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SLC22A20 HGNC SLC25A32 81034 genome.wustl.edu 37 8 104427124 104427124 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 104427124 104427124 C T SNP SLC25A32 ENST00000297578 human ensembl 70_37 -1 known nonsense c.42 p.W14* 0.397 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling - no_errors SLC25A32 HGNC SLC25A41 284427 genome.wustl.edu 37 19 6433680 6433680 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 6433680 6433680 G C SNP SLC25A41 ENST00000321510 human ensembl 70_37 -1 known missense c.25 p.Q9E 0.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A41 HGNC SLC27A2 11001 genome.wustl.edu 37 15 50528249 50528249 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 50528249 50528249 G A SNP SLC27A2 ENST00000267842 human ensembl 70_37 +1 known missense c.1819 p.E607K 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A2 HGNC SLC2A12 154091 genome.wustl.edu 37 6 134349710 134349710 + Nonsense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 134349710 134349710 G C SNP SLC2A12 ENST00000275230 human ensembl 70_37 -1 known nonsense c.1253 p.S418* 0.001 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt - no_errors SLC2A12 HGNC SLC2A4RG 56731 genome.wustl.edu 37 20 62374737 62374737 + RNA SNP T T G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 62374737 62374737 T G SNP SLC2A4RG ENST00000473157 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC2A4RG HGNC SLC35B2 347734 genome.wustl.edu 37 6 44222490 44222490 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 44222490 44222490 G A SNP SLC35B2 ENST00000393812 human ensembl 70_37 -1 known missense c.1252 p.R418W 0.135 NULL pfam_UAA,pfam_DMT - no_errors SLC35B2 HGNC SLC41A3 54946 genome.wustl.edu 37 3 125727581 125727581 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 125727581 125727581 C T SNP SLC41A3 ENST00000315891 human ensembl 70_37 -1 known silent c.1248 p.L416 0.977 pfam_MgtE_Mg_transptr_membr pfam_MgtE_Mg_transptr_membr,superfamily_Acyl_Trfase/lysoPLipase - no_errors SLC41A3 HGNC SLC44A5 204962 genome.wustl.edu 37 1 75683550 75683550 + Splice_Site SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 75683550 75683550 C T SNP SLC44A5 ENST00000370855 human ensembl 70_37 -1 known splice_site c.1624+1 e17+1 1.000 - - - no_errors SLC44A5 HGNC SLC5A11 115584 genome.wustl.edu 37 16 24873933 24873933 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 24873933 24873933 G C SNP SLC5A11 ENST00000347898 human ensembl 70_37 +1 known missense c.147 p.K49N 1.000 pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A11 HGNC SLC6A10P 386757 genome.wustl.edu 37 16 32893360 32893360 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 32893360 32893360 G C SNP SLC6A10P ENST00000330048 human ensembl 70_37 -1 known rna NULL NULL 0.992 - - - no_errors SLC6A10P HGNC SLC7A4 6545 genome.wustl.edu 37 22 21385937 21385937 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 21385937 21385937 G C SNP SLC7A4 ENST00000382932 human ensembl 70_37 -1 known silent c.165 p.L55 0.945 pfam_AA-permease_dom,pirsf_AA/rel_permease1 pfam_AA-permease_dom,pirsf_AA/rel_permease1 - no_errors SLC7A4 HGNC SLC9C2 284525 genome.wustl.edu 37 1 173517641 173517641 + Nonsense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 173517641 173517641 G A SNP SLC9C2 ENST00000367714 human ensembl 70_37 -1 known nonsense c.1348 p.Q450* 0.844 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC SLITRK6 84189 genome.wustl.edu 37 13 86370018 86370018 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 86370018 86370018 C T SNP SLITRK6 ENST00000400286 human ensembl 70_37 -1 known missense c.626 p.R209Q 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC SLTM 79811 genome.wustl.edu 37 15 59182658 59182658 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 59182658 59182658 C T SNP SLTM ENST00000380516 human ensembl 70_37 -1 known missense c.1901 p.R634Q 1.000 NULL pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom - no_errors SLTM HGNC SLU7 10569 genome.wustl.edu 37 5 159842247 159842247 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 159842247 159842247 C T SNP SLU7 ENST00000297151 human ensembl 70_37 -1 known missense c.55 p.E19K 0.995 NULL pfam_Slu7,superfamily_Znf_CCHC - no_errors SLU7 HGNC SMAD7 4092 genome.wustl.edu 37 18 46448173 46448173 + Missense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 46448173 46448173 G T SNP SMAD7 ENST00000262158 human ensembl 70_37 -1 known missense c.850 p.L284M 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD7 HGNC SMARCAL1 50485 genome.wustl.edu 37 2 217347478 217347478 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 217347478 217347478 G A SNP SMARCAL1 ENST00000357276 human ensembl 70_37 +1 known silent c.2643 p.K881 0.773 NULL pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAL1 HGNC SMARCD2 6603 genome.wustl.edu 37 17 61910333 61910333 + Nonsense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 61910333 61910333 C A SNP SMARCD2 ENST00000448276 human ensembl 70_37 -1 known nonsense c.1561 p.E521* 1.000 NULL pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD2 HGNC SNAP91 9892 genome.wustl.edu 37 6 84269883 84269883 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 84269883 84269883 G A SNP SNAP91 ENST00000369694 human ensembl 70_37 -1 known silent c.2571 p.V857 0.996 NULL pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC SND1 27044 genome.wustl.edu 37 7 127334894 127334894 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 127334894 127334894 C G SNP SND1 ENST00000354725 human ensembl 70_37 +1 known missense c.241 p.P81A 1.000 pfam_Staphylococcal_nuclease,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococcal_nuclease pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease - no_errors SND1 HGNC SNORD6 692075 genome.wustl.edu 37 11 93464721 93464721 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 93464721 93464721 C T SNP SNORD6 ENST00000365444 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SNORD6 HGNC SNRNP200 23020 genome.wustl.edu 37 2 96957551 96957551 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 96957551 96957551 G A SNP SNRNP200 ENST00000323853 human ensembl 70_37 -1 known silent c.2248 p.L750 0.977 pfscan_Helicase_C pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC SNTB1 6641 genome.wustl.edu 37 8 121583573 121583573 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 121583573 121583573 C G SNP SNTB1 ENST00000519177 human ensembl 70_37 -1 known rna NULL NULL 0.015 - - - no_errors SNTB1 HGNC SNUPN 10073 genome.wustl.edu 37 15 75897509 75897509 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 75897509 75897509 C G SNP SNUPN ENST00000371091 human ensembl 70_37 -1 known missense c.786 p.E262D 1.000 pirsf_Snurportin-1 pfam_Snurportin-1_N,pirsf_Snurportin-1,pfscan_Importin-a_IBB - no_errors SNUPN HGNC SNUPN 10073 genome.wustl.edu 37 15 75897569 75897569 + Splice_Site SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 75897569 75897569 C G SNP SNUPN ENST00000371091 human ensembl 70_37 -1 known splice_site c.727-1 e7-1 1.000 - - - no_errors SNUPN HGNC SOX30 11063 genome.wustl.edu 37 5 157078629 157078629 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 157078629 157078629 C G SNP SOX30 ENST00000265007 human ensembl 70_37 -1 known missense c.458 p.R153P 0.001 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX30 HGNC SOX30 11063 genome.wustl.edu 37 5 157078993 157078993 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 157078993 157078993 C T SNP SOX30 ENST00000265007 human ensembl 70_37 -1 known missense c.94 p.A32T 0.090 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX30 HGNC SP1 6667 genome.wustl.edu 37 12 53803323 53803323 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 53803323 53803323 G C SNP SP1 ENST00000327443 human ensembl 70_37 +1 known missense c.2022 p.Q674H 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP1 HGNC SPAG11B 10407 genome.wustl.edu 37 8 7320333 7320333 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 7320333 7320333 C G SNP SPAG11B ENST00000398462 human ensembl 70_37 -1 known missense c.110 p.G37A 0.001 pfam_Sperm_Ag_HE2 pfam_Sperm_Ag_HE2,pfam_Defensin_beta-typ - no_errors SPAG11B HGNC SPATA17 128153 genome.wustl.edu 37 1 217824495 217824495 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 217824495 217824495 G A SNP SPATA17 ENST00000366933 human ensembl 70_37 +1 known missense c.215 p.R72K 1.000 pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors SPATA17 HGNC SPATA6L 55064 genome.wustl.edu 37 9 4656056 4656056 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 4656056 4656056 C T SNP SPATA6L ENST00000454239 human ensembl 70_37 -1 known missense c.211 p.V71I 0.998 NULL NULL - no_errors SPATA6L HGNC SPRY4 81848 genome.wustl.edu 37 5 141694457 141694457 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 141694457 141694457 C T SNP SPRY4 ENST00000344120 human ensembl 70_37 -1 known missense c.286 p.E96K 0.999 NULL pfam_Sprouty - no_errors SPRY4 HGNC SPTAN1 6709 genome.wustl.edu 37 9 131356479 131356479 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 131356479 131356479 G A SNP SPTAN1 ENST00000358161 human ensembl 70_37 +1 known missense c.3241 p.E1081K 1.000 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC SPTLC3 55304 genome.wustl.edu 37 20 13029847 13029847 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 13029847 13029847 G A SNP SPTLC3 ENST00000476791 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SPTLC3 HGNC SPTLC3 55304 genome.wustl.edu 37 20 13090773 13090773 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 13090773 13090773 G C SNP SPTLC3 ENST00000399002 human ensembl 70_37 +1 known missense c.841 p.E281Q 1.000 pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SPTLC3 HGNC SRCAP 10847 genome.wustl.edu 37 16 30732237 30732237 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 30732237 30732237 C T SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known missense c.3191 p.S1064F 0.999 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC SRCAP 10847 genome.wustl.edu 37 16 30732630 30732630 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 30732630 30732630 C G SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known missense c.3374 p.S1125C 0.999 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC SRPK2 6733 genome.wustl.edu 37 7 104766234 104766234 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 104766234 104766234 C T SNP SRPK2 ENST00000465072 human ensembl 70_37 -1 known missense c.254 p.R85K 1.000 superfamily_Kinase-like_dom superfamily_Kinase-like_dom - no_errors SRPK2 HGNC SRRT 51593 genome.wustl.edu 37 7 100473329 100473329 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 100473329 100473329 G A SNP SRRT ENST00000388793 human ensembl 70_37 +1 known missense c.118 p.D40N 1.000 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC SRSF12 135295 genome.wustl.edu 37 6 89808634 89808634 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 89808634 89808634 G C SNP SRSF12 ENST00000452027 human ensembl 70_37 -1 known missense c.449 p.S150C 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF12 HGNC SSX2IP 117178 genome.wustl.edu 37 1 85122058 85122058 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 85122058 85122058 C T SNP SSX2IP ENST00000342203 human ensembl 70_37 -1 known missense c.1188 p.M396I 1.000 NULL pfam_Afadin/alpha-actinin-bd - no_errors SSX2IP HGNC SSX4B 548313 genome.wustl.edu 37 X 48270279 48270279 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 48270279 48270279 G C SNP SSX4B ENST00000376884 human ensembl 70_37 -1 known missense c.98 p.S33C 0.093 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX4B HGNC ST3GAL2 6483 genome.wustl.edu 37 16 70415655 70415655 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 70415655 70415655 G A SNP ST3GAL2 ENST00000342907 human ensembl 70_37 -1 known silent c.990 p.F330 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL2 HGNC ST7-AS2 93654 genome.wustl.edu 37 7 116730797 116730797 + RNA SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 116730797 116730797 G T SNP ST7-AS2 ENST00000456577 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ST7-AS2 HGNC ST8SIA1 6489 genome.wustl.edu 37 12 22354821 22354821 + Nonsense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 22354821 22354821 G A SNP ST8SIA1 ENST00000396037 human ensembl 70_37 -1 known nonsense c.736 p.Q246* 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA1 HGNC STAG1 10274 genome.wustl.edu 37 3 136141690 136141690 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 136141690 136141690 C T SNP STAG1 ENST00000383202 human ensembl 70_37 -1 known missense c.1753 p.D585N 1.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC STAG3 10734 genome.wustl.edu 37 7 99786601 99786601 + Nonsense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 99786601 99786601 C G SNP STAG3 ENST00000317296 human ensembl 70_37 +1 known nonsense c.677 p.S226* 1.000 pfam_STAG pfam_STAG,superfamily_ARM-type_fold - no_errors STAG3 HGNC STARD10 10809 genome.wustl.edu 37 11 72492047 72492047 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 72492047 72492047 C T SNP STARD10 ENST00000334805 human ensembl 70_37 -1 known silent c.180 p.E60 0.990 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd - no_errors STARD10 HGNC STARD9 57519 genome.wustl.edu 37 15 42944743 42944743 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 42944743 42944743 G C SNP STARD9 ENST00000290607 human ensembl 70_37 +1 known missense c.655 p.E219Q 0.993 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC STAT1 6772 genome.wustl.edu 37 2 191841680 191841680 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 191841680 191841680 G A SNP STAT1 ENST00000361099 human ensembl 70_37 -1 known missense c.1945 p.R649C 1.000 pfscan_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT1 HGNC STAT3 6774 genome.wustl.edu 37 17 40500481 40500481 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 40500481 40500481 G C SNP STAT3 ENST00000264657 human ensembl 70_37 -1 known silent c.54 p.L18 0.010 pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT3 HGNC STIM2 57620 genome.wustl.edu 37 4 27019575 27019575 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 27019575 27019575 G C SNP STIM2 ENST00000382009 human ensembl 70_37 +1 known missense c.2017 p.E673Q 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,pfscan_SAM - no_errors STIM2 HGNC STOX2 56977 genome.wustl.edu 37 4 184931020 184931020 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 184931020 184931020 G A SNP STOX2 ENST00000308497 human ensembl 70_37 +1 known silent c.1029 p.Q343 0.010 NULL pfam_Storkhead-box_winged-helix - no_errors STOX2 HGNC STPG1 90529 genome.wustl.edu 37 1 24695798 24695798 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 24695798 24695798 G A SNP STPG1 ENST00000497384 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors STPG1 HGNC STRC 161497 genome.wustl.edu 37 15 43892273 43892273 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 43892273 43892273 G C SNP STRC ENST00000450892 human ensembl 70_37 -1 known silent c.5124 p.L1708 1.000 NULL NULL - no_errors STRC HGNC STRC 161497 genome.wustl.edu 37 15 43892280 43892280 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 43892280 43892280 G C SNP STRC ENST00000450892 human ensembl 70_37 -1 known missense c.5117 p.S1706C 1.000 NULL NULL - no_errors STRC HGNC STXBP5 134957 genome.wustl.edu 37 6 147525730 147525730 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 147525730 147525730 C T SNP STXBP5 ENST00000321680 human ensembl 70_37 +1 known missense c.62 p.S21L 1.000 NULL pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5 HGNC SUCLG1 8802 genome.wustl.edu 37 2 84668473 84668473 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 84668473 84668473 G A SNP SUCLG1 ENST00000393868 human ensembl 70_37 -1 known silent c.429 p.I143 0.557 pfam_CoA-bd,smart_CoA-bd,pirsf_CoA_lig_alpha,prints_CoA_lig_alpha,tigrfam_CoA_lig_alpha pfam_CoA-bd,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_CoA_lig_alpha,prints_CoA_lig_alpha,tigrfam_CoA_lig_alpha - no_errors SUCLG1 HGNC SULT6B1 391365 genome.wustl.edu 37 2 37410613 37410613 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 37410613 37410613 G A SNP SULT6B1 ENST00000535679 human ensembl 70_37 -1 known silent c.357 p.L119 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT6B1 HGNC SUN2 25777 genome.wustl.edu 37 22 39132286 39132286 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 39132286 39132286 C T SNP SUN2 ENST00000216064 human ensembl 70_37 -1 known missense c.2140 p.E714K 1.000 pfam_Sad1_UNC_C,superfamily_Galactose-bd-like pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN2 HGNC SUSD2 56241 genome.wustl.edu 37 22 24582379 24582379 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 24582379 24582379 G C SNP SUSD2 ENST00000358321 human ensembl 70_37 +1 known silent c.1638 p.L546 0.993 pfam_VWF_type-D,smart_VWF_type-D pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Complement_control_module,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD2 HGNC SUSD4 55061 genome.wustl.edu 37 1 223402655 223402655 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 223402655 223402655 C T SNP SUSD4 ENST00000343846 human ensembl 70_37 -1 known missense c.800 p.G267E 0.997 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD4 HGNC SV2B 9899 genome.wustl.edu 37 15 91835670 91835670 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 91835670 91835670 C T SNP SV2B ENST00000330276 human ensembl 70_37 +1 known missense c.1940 p.S647F 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata - no_errors SV2B HGNC SYCP2L 221711 genome.wustl.edu 37 6 10942745 10942745 + Missense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 10942745 10942745 G T SNP SYCP2L ENST00000283141 human ensembl 70_37 +1 known missense c.1867 p.D623Y 0.562 NULL NULL - no_errors SYCP2L HGNC SYN3 8224 genome.wustl.edu 37 22 32914306 32914306 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 32914306 32914306 G A SNP SYN3 ENST00000332840 human ensembl 70_37 -1 known missense c.1334 p.A445V 1.000 NULL pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin - no_errors SYN3 HGNC SYNE1 23345 genome.wustl.edu 37 6 152470759 152470759 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 152470759 152470759 C T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known silent c.24495 p.Q8165 1.000 pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC SYNE1 23345 genome.wustl.edu 37 6 152806072 152806072 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 152806072 152806072 C T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known silent c.1083 p.K361 1.000 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC SYNE2 23224 genome.wustl.edu 37 14 64473783 64473783 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 64473783 64473783 G C SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.4420 p.D1474H 1.000 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC SYNE2 23224 genome.wustl.edu 37 14 64628920 64628920 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 64628920 64628920 C G SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.16225 p.Q5409E 0.001 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC SYNE3 161176 genome.wustl.edu 37 14 95916270 95916270 + Nonsense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 95916270 95916270 C A SNP SYNE3 ENST00000334258 human ensembl 70_37 -1 known nonsense c.1447 p.E483* 1.000 NULL pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC SYS1 90196 genome.wustl.edu 37 20 43995845 43995845 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 43995845 43995845 G A SNP SYS1 ENST00000479779 human ensembl 70_37 +1 known rna NULL NULL 0.945 - - - no_errors SYS1 HGNC SYT7 9066 genome.wustl.edu 37 11 61291312 61291312 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 61291312 61291312 G A SNP SYT7 ENST00000263846 human ensembl 70_37 -1 known silent c.894 p.I298 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT7 HGNC SZT2 23334 genome.wustl.edu 37 1 43911609 43911609 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 43911609 43911609 G A SNP SZT2 ENST00000562955 human ensembl 70_37 +1 known missense c.8699 p.R2900Q 0.987 NULL NULL - no_errors SZT2 HGNC TACR3 6870 genome.wustl.edu 37 4 104640293 104640293 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 104640293 104640293 C T SNP TACR3 ENST00000304883 human ensembl 70_37 -1 known silent c.540 p.A180 0.442 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt - no_errors TACR3 HGNC TAGLN2 8407 genome.wustl.edu 37 1 159889069 159889069 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 159889069 159889069 G A SNP TAGLN2 ENST00000368096 human ensembl 70_37 -1 known silent c.516 p.F172 1.000 superfamily_CH-domain pfam_CH-domain,pfam_Calponin_repeat,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin - no_errors TAGLN2 HGNC TARBP1 6894 genome.wustl.edu 37 1 234529131 234529131 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 234529131 234529131 C T SNP TARBP1 ENST00000040877 human ensembl 70_37 -1 known missense c.4537 p.E1513K 1.000 pfam_SpoU_MeTrfase pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC TAS2R13 50838 genome.wustl.edu 37 12 11061381 11061381 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 11061381 11061381 C T SNP TAS2R13 ENST00000390677 human ensembl 70_37 -1 known missense c.517 p.E173K 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R13 HGNC TAS2R30 259293 genome.wustl.edu 37 12 11286061 11286061 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 11286061 11286061 G A SNP TAS2R30 ENST00000539585 human ensembl 70_37 -1 known silent c.783 p.F261 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R30 HGNC TAS2R30 259293 genome.wustl.edu 37 12 11286276 11286276 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 11286276 11286276 G A SNP TAS2R30 ENST00000539585 human ensembl 70_37 -1 known silent c.568 p.L190 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R30 HGNC TAS2R30 259293 genome.wustl.edu 37 12 11286503 11286503 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 11286503 11286503 G A SNP TAS2R30 ENST00000539585 human ensembl 70_37 -1 known missense c.341 p.S114F 0.065 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R30 HGNC TAT 6898 genome.wustl.edu 37 16 71606214 71606214 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 71606214 71606214 C A SNP TAT ENST00000355962 human ensembl 70_37 -1 known missense c.581 p.W194L 1.000 pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase pfam_Aminotransferase_I/II,pfam_Tyr_aminoTrfase_ubiquitination,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase - no_errors TAT HGNC TBC1D15 64786 genome.wustl.edu 37 12 72266761 72266761 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 72266761 72266761 C G SNP TBC1D15 ENST00000550746 human ensembl 70_37 +1 known missense c.182 p.S61C 1.000 pfam_DUF3548 pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D15 HGNC TBC1D25 4943 genome.wustl.edu 37 X 48418773 48418773 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 48418773 48418773 C T SNP TBC1D25 ENST00000376771 human ensembl 70_37 +1 known nonsense c.1477 p.Q493* 0.072 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D25 HGNC TBC1D4 9882 genome.wustl.edu 37 13 76055553 76055553 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 76055553 76055553 G A SNP TBC1D4 ENST00000377636 human ensembl 70_37 -1 known silent c.351 p.F117 1.000 pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC TBC1D5 9779 genome.wustl.edu 37 3 17202618 17202618 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 17202618 17202618 C T SNP TBC1D5 ENST00000253692 human ensembl 70_37 -1 known missense c.2225 p.R742K 0.903 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D5 HGNC TBC1D5 9779 genome.wustl.edu 37 3 17550029 17550029 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 17550029 17550029 G C SNP TBC1D5 ENST00000253692 human ensembl 70_37 -1 known missense c.34 p.L12V 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D5 HGNC TBC1D9B 23061 genome.wustl.edu 37 5 179303026 179303026 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 179303026 179303026 G A SNP TBC1D9B ENST00000356834 human ensembl 70_37 -1 known silent c.1794 p.I598 0.983 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9B HGNC TBPL1 9519 genome.wustl.edu 37 6 134305765 134305765 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 134305765 134305765 G C SNP TBPL1 ENST00000237264 human ensembl 70_37 +1 known missense c.437 p.R146T 1.000 pfam_TBP,prints_TBP pfam_TBP,prints_TBP - no_errors TBPL1 HGNC TBX18 9096 genome.wustl.edu 37 6 85446793 85446793 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 85446793 85446793 G A SNP TBX18 ENST00000369663 human ensembl 70_37 -1 known silent c.1434 p.F478 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX18 HGNC TBX18 9096 genome.wustl.edu 37 6 85447111 85447111 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 85447111 85447111 G A SNP TBX18 ENST00000369663 human ensembl 70_37 -1 known silent c.1116 p.S372 0.160 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX18 HGNC TCEA3 6920 genome.wustl.edu 37 1 23744603 23744603 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 23744603 23744603 C G SNP TCEA3 ENST00000492271 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors TCEA3 HGNC TCEANC 170082 genome.wustl.edu 37 X 13681559 13681559 + Missense_Mutation SNP A A G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 13681559 13681559 A G SNP TCEANC ENST00000314720 human ensembl 70_37 +1 known missense c.1022 p.D341G 0.996 pirsf_TF_IIS-rel pfam_TFIIS_cen_dom,pfam_TFIIS_N,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFS2M,pirsf_TF_IIS-rel - no_errors TCEANC HGNC TCERG1L 256536 genome.wustl.edu 37 10 133058588 133058588 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 133058588 133058588 C T SNP TCERG1L ENST00000368642 human ensembl 70_37 -1 known missense c.790 p.V264M 0.830 NULL pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP - no_errors TCERG1L HGNC TCF7L1 83439 genome.wustl.edu 37 2 85360955 85360955 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 85360955 85360955 G C SNP TCF7L1 ENST00000282111 human ensembl 70_37 +1 known missense c.148 p.E50Q 1.000 pfam_CTNNB1-bd_N pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TCF7L1 HGNC TCN2 6948 genome.wustl.edu 37 22 31008988 31008988 + Nonsense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 31008988 31008988 C G SNP TCN2 ENST00000215838 human ensembl 70_37 +1 known nonsense c.386 p.S129* 0.996 pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors TCN2 HGNC TCP10 6953 genome.wustl.edu 37 6 167772839 167772839 + Nonsense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 167772839 167772839 G C SNP TCP10 ENST00000366827 human ensembl 70_37 -1 putative nonsense c.851 p.S284* 0.002 NULL NULL - no_errors TCP10 HGNC TDP1 55775 genome.wustl.edu 37 14 90429835 90429835 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 90429835 90429835 G C SNP TDP1 ENST00000335725 human ensembl 70_37 +1 known missense c.377 p.R126T 0.000 NULL pfam_Tyr-DNA_phospho - no_errors TDP1 HGNC TDP1 55775 genome.wustl.edu 37 14 90429933 90429933 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 90429933 90429933 G C SNP TDP1 ENST00000335725 human ensembl 70_37 +1 known missense c.475 p.D159H 0.114 NULL pfam_Tyr-DNA_phospho - no_errors TDP1 HGNC TDRD6 221400 genome.wustl.edu 37 6 46660917 46660917 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 46660917 46660917 G A SNP TDRD6 ENST00000316081 human ensembl 70_37 +1 known silent c.5052 p.L1684 0.716 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC TECPR2 9895 genome.wustl.edu 37 14 102918826 102918826 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 102918826 102918826 G A SNP TECPR2 ENST00000359520 human ensembl 70_37 +1 known missense c.3502 p.E1168K 0.993 superfamily_Reg_csome_cond/b-lactamase_inh,smart_Beta-propeller_rpt_TECPR pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC TEDDM1 127670 genome.wustl.edu 37 1 182369123 182369123 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 182369123 182369123 C T SNP TEDDM1 ENST00000367565 human ensembl 70_37 -1 known missense c.498 p.M166I 0.002 pfam_DUF716_TMEM45 pfam_DUF716_TMEM45 - no_errors TEDDM1 HGNC TEKT1 83659 genome.wustl.edu 37 17 6704097 6704097 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 6704097 6704097 C T SNP TEKT1 ENST00000338694 human ensembl 70_37 -1 known missense c.1018 p.E340K 0.988 pfam_Tektin,prints_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT1 HGNC TEKT1 83659 genome.wustl.edu 37 17 6704202 6704202 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 6704202 6704202 C T SNP TEKT1 ENST00000338694 human ensembl 70_37 -1 known missense c.913 p.D305N 0.981 pfam_Tektin,prints_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT1 HGNC TEKT1 83659 genome.wustl.edu 37 17 6704217 6704217 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 6704217 6704217 C T SNP TEKT1 ENST00000338694 human ensembl 70_37 -1 known missense c.898 p.E300K 0.980 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT1 HGNC TENM3 55714 genome.wustl.edu 37 4 183603092 183603092 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 183603092 183603092 G A SNP TENM3 ENST00000406950 human ensembl 70_37 +1 known missense c.1960 p.G654S 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC TIMELESS 8914 genome.wustl.edu 37 12 56827324 56827324 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 56827324 56827324 C G SNP TIMELESS ENST00000553532 human ensembl 70_37 -1 known missense c.364 p.E122Q 1.000 pfam_Timeless pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC TIMELESS 8914 genome.wustl.edu 37 12 56827699 56827699 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 56827699 56827699 C G SNP TIMELESS ENST00000553532 human ensembl 70_37 -1 known missense c.109 p.D37H 1.000 pfam_Timeless pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC TLL1 7092 genome.wustl.edu 37 4 166914025 166914025 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 166914025 166914025 G A SNP TLL1 ENST00000061240 human ensembl 70_37 +1 known missense c.350 p.R117K 1.000 pirsf_BMP_1/tolloid-like pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC TLR3 7098 genome.wustl.edu 37 4 187000002 187000002 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 187000002 187000002 C T SNP TLR3 ENST00000296795 human ensembl 70_37 +1 known silent c.450 p.I150 0.029 NULL pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR3 HGNC TLR3 7098 genome.wustl.edu 37 4 187004149 187004149 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 187004149 187004149 G A SNP TLR3 ENST00000296795 human ensembl 70_37 +1 known missense c.1309 p.D437N 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR3 HGNC TMC2 117532 genome.wustl.edu 37 20 2539295 2539295 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 2539295 2539295 G C SNP TMC2 ENST00000358864 human ensembl 70_37 +1 known missense c.276 p.E92D 0.041 NULL pfam_TMC - no_errors TMC2 HGNC TMC3 342125 genome.wustl.edu 37 15 81625474 81625474 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 81625474 81625474 G A SNP TMC3 ENST00000359440 human ensembl 70_37 -1 known silent c.2589 p.I863 0.000 NULL pfam_TMC - no_errors TMC3 HGNC TANGO6 79613 genome.wustl.edu 37 16 68877531 68877531 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 68877531 68877531 G C SNP TMCO7 ENST00000261778 human ensembl 70_37 +1 known missense c.11 p.R4P 0.000 NULL pfam_DUF2411,superfamily_ARM-type_fold - no_errors TMCO7 HGNC TMEM108 66000 genome.wustl.edu 37 3 133109176 133109176 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 133109176 133109176 G C SNP TMEM108 ENST00000321871 human ensembl 70_37 +1 known missense c.1603 p.E535Q 0.998 NULL NULL - no_errors TMEM108 HGNC TMEM132B 114795 genome.wustl.edu 37 12 125811144 125811144 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 125811144 125811144 C T SNP TMEM132B ENST00000535330 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TMEM132B HGNC TMEM176A 55365 genome.wustl.edu 37 7 150499329 150499329 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 150499329 150499329 G C SNP TMEM176A ENST00000004103 human ensembl 70_37 +1 known missense c.201 p.L67F 0.004 pfam_CD20-like pfam_CD20-like - no_errors TMEM176A HGNC TMEM200A 114801 genome.wustl.edu 37 6 130762478 130762478 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 130762478 130762478 G A SNP TMEM200A ENST00000296978 human ensembl 70_37 +1 known missense c.911 p.S304N 1.000 NULL pfam_DUF2371_TMEM200 - no_errors TMEM200A HGNC TMEM50B 757 genome.wustl.edu 37 21 34828327 34828327 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 21 34828327 34828327 C G SNP TMEM50B ENST00000442441 human ensembl 70_37 -1 known missense c.451 p.D151H 0.001 NULL pfam_UPF0220 - no_errors TMEM50B HGNC TMEM60 85025 genome.wustl.edu 37 7 77423670 77423670 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 77423670 77423670 C G SNP TMEM60 ENST00000257663 human ensembl 70_37 -1 known missense c.21 p.Q7H 1.000 NULL pfam_TM_Fragile-X-F-assoc - no_errors TMEM60 HGNC TMEM63B 55362 genome.wustl.edu 37 6 44107469 44107469 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 44107469 44107469 G C SNP TMEM63B ENST00000259746 human ensembl 70_37 +1 known missense c.575 p.R192T 1.000 NULL pfam_DUF221 - no_errors TMEM63B HGNC TMEM63C 57156 genome.wustl.edu 37 14 77686352 77686352 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 77686352 77686352 G C SNP TMEM63C ENST00000298351 human ensembl 70_37 +1 known silent c.234 p.L78 1.000 NULL pfam_DUF221 - no_errors TMEM63C HGNC TMEM74B 55321 genome.wustl.edu 37 20 1161999 1161999 + Silent SNP A A T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 1161999 1161999 A T SNP TMEM74B ENST00000381894 human ensembl 70_37 -1 known silent c.264 p.P88 0.000 NULL NULL - no_errors TMEM74B HGNC TMEM87A 25963 genome.wustl.edu 37 15 42553440 42553440 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 42553440 42553440 G A SNP TMEM87A ENST00000389834 human ensembl 70_37 -1 known missense c.413 p.S138F 1.000 NULL pfam_TM_rcpt_euk - no_errors TMEM87A HGNC TMEM87A 25963 genome.wustl.edu 37 15 42556300 42556300 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 42556300 42556300 G C SNP TMEM87A ENST00000389834 human ensembl 70_37 -1 known silent c.393 p.L131 1.000 NULL pfam_TM_rcpt_euk - no_errors TMEM87A HGNC TMEM8C 389827 genome.wustl.edu 37 9 136385318 136385318 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 136385318 136385318 C G SNP TMEM8C ENST00000339996 human ensembl 70_37 -1 known silent c.228 p.L76 0.998 pfam_DUF3522 pfam_DUF3522 - no_errors TMEM8C HGNC TNFRSF1A 7132 genome.wustl.edu 37 12 6442925 6442925 + Nonsense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 6442925 6442925 G C SNP TNFRSF1A ENST00000534885 human ensembl 70_37 -1 known nonsense c.146 p.S49* 0.486 NULL NULL - no_errors TNFRSF1A HGNC TNPO2 30000 genome.wustl.edu 37 19 12826312 12826312 + Nonsense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 12826312 12826312 G C SNP TNPO2 ENST00000425528 human ensembl 70_37 -1 known nonsense c.473 p.S158* 0.973 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors TNPO2 HGNC TOR2A 27433 genome.wustl.edu 37 9 130496650 130496650 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 130496650 130496650 G C SNP TOR2A ENST00000373284 human ensembl 70_37 -1 known silent c.345 p.L115 0.996 pfam_Torsin,smart_AAA+_ATPase,pirsf_Torsin_subgr pfam_Torsin,smart_AAA+_ATPase,pirsf_Torsin_subgr,prints_Chaprnin_ClpA/B - no_errors TOR2A HGNC TPR 7175 genome.wustl.edu 37 1 186296657 186296657 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 186296657 186296657 C A SNP TPR ENST00000367478 human ensembl 70_37 -1 known missense c.5824 p.D1942Y 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC TRAPPC10 7109 genome.wustl.edu 37 21 45472274 45472274 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 21 45472274 45472274 G C SNP TRAPPC10 ENST00000291574 human ensembl 70_37 +1 known missense c.399 p.K133N 1.000 NULL NULL - no_errors TRAPPC10 HGNC TRHDE-AS1 283392 genome.wustl.edu 37 12 72665811 72665811 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 72665811 72665811 C T SNP TRHDE-AS1 ENST00000426250 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors TRHDE-AS1 HGNC TRIM23 373 genome.wustl.edu 37 5 64890377 64890377 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 64890377 64890377 C A SNP TRIM23 ENST00000231524 human ensembl 70_37 -1 known missense c.1516 p.A506S 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_Znf_C2H2,tigrfam_Small_GTP-bd_dom - no_errors TRIM23 HGNC TRIM43 129868 genome.wustl.edu 37 2 96265243 96265243 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 96265243 96265243 G A SNP TRIM43 ENST00000272395 human ensembl 70_37 +1 known silent c.1263 p.K421 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM43 HGNC TRIM6-TRIM34 445372 genome.wustl.edu 37 11 5655906 5655906 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 5655906 5655906 C A SNP TRIM6-TRIM34 ENST00000354852 human ensembl 70_37 +1 known missense c.1627 p.Q543K 0.010 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM6-TRIM34 HGNC TRIM63 84676 genome.wustl.edu 37 1 26394022 26394022 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 26394022 26394022 C G SNP TRIM63 ENST00000483052 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TRIM63 HGNC TROVE2 6738 genome.wustl.edu 37 1 193053855 193053855 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 193053855 193053855 G C SNP TROVE2 ENST00000367441 human ensembl 70_37 +1 known missense c.1611 p.M537I 1.000 NULL pfam_TROVE,pfscan_TROVE - no_errors TROVE2 HGNC TRPM1 4308 genome.wustl.edu 37 15 31324907 31324907 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 31324907 31324907 C T SNP TRPM1 ENST00000542188 human ensembl 70_37 -1 known missense c.2988 p.M996I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors TRPM1 HGNC TRPM1 4308 genome.wustl.edu 37 15 31362146 31362146 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 31362146 31362146 G A SNP TRPM1 ENST00000559179 human ensembl 70_37 -1 putative missense c.301 p.L101F 0.027 NULL NULL - no_errors TRPM1 HGNC TRPV4 59341 genome.wustl.edu 37 12 110226262 110226262 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 110226262 110226262 G A SNP TRPV4 ENST00000261740 human ensembl 70_37 -1 known silent c.2151 p.L717 1.000 pfam_Ion_trans_dom,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel - no_errors TRPV4 HGNC TRRAP 8295 genome.wustl.edu 37 7 98589764 98589764 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 98589764 98589764 G C SNP TRRAP ENST00000359863 human ensembl 70_37 +1 known missense c.9773 p.G3258A 1.000 pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC TSC2 7249 genome.wustl.edu 37 16 2098751 2098751 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 2098751 2098751 G A SNP TSC2 ENST00000219476 human ensembl 70_37 +1 known silent c.135 p.L45 1.000 superfamily_ARM-type_fold pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin - no_errors TSC2 HGNC TSPAN2 10100 genome.wustl.edu 37 1 115601508 115601508 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 115601508 115601508 G A SNP TSPAN2 ENST00000369516 human ensembl 70_37 -1 known missense c.440 p.S147L 0.956 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN2 HGNC TST 7263 genome.wustl.edu 37 22 37407280 37407280 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 37407280 37407280 C T SNP TST ENST00000249042 human ensembl 70_37 -1 known missense c.682 p.E228K 1.000 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 TSTA3 7264 genome.wustl.edu 37 8 144696865 144696865 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 144696865 144696865 G A SNP TSTA3 ENST00000425753 human ensembl 70_37 -1 known silent c.393 p.I131 1.000 pfam_Epimerase_deHydtase pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct - no_errors TSTA3 HGNC TTC21A 199223 genome.wustl.edu 37 3 39170291 39170291 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 39170291 39170291 G A SNP TTC21A ENST00000301819 human ensembl 70_37 +1 known silent c.1788 p.L596 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC TTC39B 158219 genome.wustl.edu 37 9 15307104 15307104 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 15307104 15307104 C G SNP TTC39B ENST00000512701 human ensembl 70_37 -1 known missense c.218 p.R73P 0.998 NULL pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39B HGNC TTC7B 145567 genome.wustl.edu 37 14 91119233 91119233 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 91119233 91119233 C T SNP TTC7B ENST00000357056 human ensembl 70_37 -1 known missense c.1469 p.R490Q 1.000 pfscan_TPR-contain_dom pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC7B HGNC TTC8 123016 genome.wustl.edu 37 14 89343652 89343652 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 89343652 89343652 G C SNP TTC8 ENST00000338104 human ensembl 70_37 +1 known missense c.1494 p.Q498H 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC8 HGNC TTLL6 284076 genome.wustl.edu 37 17 46863559 46863559 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 46863559 46863559 C T SNP TTLL6 ENST00000393382 human ensembl 70_37 -1 known silent c.1728 p.Q576 0.010 NULL pfam_Tub_tyr_ligase - no_errors TTLL6 HGNC TTLL7 79739 genome.wustl.edu 37 1 84412895 84412895 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 84412895 84412895 G C SNP TTLL7 ENST00000260505 human ensembl 70_37 -1 known missense c.418 p.Q140E 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL7 HGNC TTLL8 164714 genome.wustl.edu 37 22 50468941 50468941 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 50468941 50468941 C G SNP TTLL8 ENST00000266182 human ensembl 70_37 -1 known missense c.2121 p.Q707H 0.000 NULL pfam_Tub_tyr_ligase - no_errors TTLL8 HGNC TTN 7273 genome.wustl.edu 37 2 179395364 179395364 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 179395364 179395364 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.98274 p.L32758 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179463947 179463947 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 179463947 179463947 C A SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.48869 p.R16290L 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179472971 179472971 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 179472971 179472971 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.44935 p.E14979K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179476178 179476178 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 179476178 179476178 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.43074 p.L14358 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179587434 179587434 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 179587434 179587434 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.18460 p.E6154K 1.000 pfam_Ig_I-set,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTYH1 57348 genome.wustl.edu 37 19 54947898 54947898 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 54947898 54947898 C T SNP TTYH1 ENST00000489425 human ensembl 70_37 +1 known rna NULL NULL 0.062 - - - no_errors TTYH1 HGNC TUBA3E 112714 genome.wustl.edu 37 2 130949475 130949475 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 130949475 130949475 G A SNP TUBA3E ENST00000312988 human ensembl 70_37 -1 known silent c.1282 p.L428 0.998 superfamily_Tub_FtsZ_C,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin - no_errors TUBA3E HGNC TUBB4B 10383 genome.wustl.edu 37 9 140137904 140137904 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 140137904 140137904 G A SNP TUBB4B ENST00000340384 human ensembl 70_37 +1 known missense c.1234 p.E412K 1.000 superfamily_Tub_FtsZ_C,prints_Beta_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB4B HGNC TUBBP1 92755 genome.wustl.edu 37 8 30209807 30209807 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 30209807 30209807 C T SNP TUBBP1 ENST00000518096 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBBP1 HGNC TUBBP5 643224 genome.wustl.edu 37 9 141069540 141069540 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 141069540 141069540 G C SNP TUBBP5 ENST00000290377 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBBP5 HGNC TUBGCP3 10426 genome.wustl.edu 37 13 113158448 113158448 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 13 113158448 113158448 C G SNP TUBGCP3 ENST00000261965 human ensembl 70_37 -1 known missense c.2205 p.W735C 1.000 pfam_Spc97_Spc98 pfam_Spc97_Spc98 - no_errors TUBGCP3 HGNC TWIST1 7291 genome.wustl.edu 37 7 19156432 19156432 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 19156432 19156432 C G SNP TWIST1 ENST00000242261 human ensembl 70_37 -1 known missense c.513 p.K171N 1.000 superfamily_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors TWIST1 HGNC TYW5 129450 genome.wustl.edu 37 2 200808492 200808492 + Nonsense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 200808492 200808492 G C SNP TYW5 ENST00000354611 human ensembl 70_37 -1 known nonsense c.299 p.S100* 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors TYW5 HGNC UBE3A 7337 genome.wustl.edu 37 15 25616135 25616135 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 25616135 25616135 C G SNP UBE3A ENST00000397954 human ensembl 70_37 -1 known missense c.1195 p.E399Q 1.000 pirsf_Ubiquitin-protein_ligase_E6-AP pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT - no_errors UBE3A HGNC UBL4B 164153 genome.wustl.edu 37 1 110655268 110655268 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 110655268 110655268 G A SNP UBL4B ENST00000334179 human ensembl 70_37 +1 known missense c.112 p.E38K 0.965 pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors UBL4B HGNC UBR5 51366 genome.wustl.edu 37 8 103297358 103297358 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 103297358 103297358 C T SNP UBR5 ENST00000520539 human ensembl 70_37 -1 known missense c.5693 p.R1898K 1.000 NULL 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 UBXN2A 165324 genome.wustl.edu 37 2 24194275 24194275 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 24194275 24194275 G A SNP UBXN2A ENST00000309033 human ensembl 70_37 +1 known silent c.171 p.Q57 0.886 superfamily_SEP_domain,smart_SEP_domain pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,smart_SEP_domain,smart_UBX,pfscan_UBX - no_errors UBXN2A HGNC UBXN4 23190 genome.wustl.edu 37 2 136528140 136528140 + Splice_Site SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 136528140 136528140 G C SNP UBXN4 ENST00000272638 human ensembl 70_37 +1 known splice_site c.658-1 e8-1 1.000 - - - no_errors UBXN4 HGNC UCMA 221044 genome.wustl.edu 37 10 13264126 13264126 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 13264126 13264126 G A SNP UCMA ENST00000378681 human ensembl 70_37 -1 known missense c.394 p.L132F 0.997 NULL NULL - no_errors UCMA HGNC UGT2B15 7366 genome.wustl.edu 37 4 69535736 69535736 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 69535736 69535736 C G SNP UGT2B15 ENST00000338206 human ensembl 70_37 -1 known missense c.601 p.E201Q 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B15 HGNC ULK4P3 89837 genome.wustl.edu 37 15 30396069 30396069 + RNA SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 15 30396069 30396069 G T SNP ULK4P3 ENST00000565158 human ensembl 70_37 +1 putative rna NULL NULL 0.039 - - - no_errors ULK4P3 HGNC UPK1A 11045 genome.wustl.edu 37 19 36164145 36164145 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 36164145 36164145 C T SNP UPK1A ENST00000379013 human ensembl 70_37 +1 known silent c.297 p.L99 0.987 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors UPK1A HGNC UPK1A 11045 genome.wustl.edu 37 19 36164186 36164186 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 36164186 36164186 C T SNP UPK1A ENST00000379013 human ensembl 70_37 +1 known missense c.338 p.T113M 0.998 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors UPK1A HGNC URGCP 55665 genome.wustl.edu 37 7 43916610 43916610 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 43916610 43916610 C G SNP URGCP ENST00000453200 human ensembl 70_37 -1 known missense c.2452 p.V818L 1.000 NULL prints_GTP_binding_domain - no_errors URGCP HGNC URGCP 55665 genome.wustl.edu 37 7 43916794 43916794 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 43916794 43916794 C G SNP URGCP ENST00000453200 human ensembl 70_37 -1 known missense c.2268 p.L756F 0.075 prints_GTP_binding_domain prints_GTP_binding_domain - no_errors URGCP HGNC USP18 11274 genome.wustl.edu 37 22 18640517 18640517 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 22 18640517 18640517 G C SNP USP18 ENST00000215794 human ensembl 70_37 +1 known missense c.87 p.K29N 0.032 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP18 HGNC USP28 57646 genome.wustl.edu 37 11 113711322 113711322 + Nonsense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 113711322 113711322 G A SNP USP28 ENST00000003302 human ensembl 70_37 -1 known nonsense c.532 p.Q178* 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,superfamily_UBA-like,pfscan_Peptidase_C19 - no_errors USP28 HGNC USP32 84669 genome.wustl.edu 37 17 58260600 58260600 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 58260600 58260600 G A SNP USP32 ENST00000300896 human ensembl 70_37 -1 known missense c.4049 p.S1350L 0.293 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin - no_errors USP32 HGNC USP33 23032 genome.wustl.edu 37 1 78194240 78194240 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 78194240 78194240 G A SNP USP33 ENST00000357428 human ensembl 70_37 -1 known missense c.968 p.S323F 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP33 HGNC USP38 84640 genome.wustl.edu 37 4 144106718 144106718 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 144106718 144106718 G C SNP USP38 ENST00000307017 human ensembl 70_37 +1 known missense c.115 p.E39Q 1.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP38 HGNC USP40 55230 genome.wustl.edu 37 2 234398105 234398105 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 234398105 234398105 C G SNP USP40 ENST00000450966 human ensembl 70_37 -1 known missense c.3070 p.E1024Q 0.515 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP40 HGNC VAMP1 6843 genome.wustl.edu 37 12 6579755 6579755 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 6579755 6579755 G A SNP VAMP1 ENST00000535927 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors VAMP1 HGNC VCX3B 425054 genome.wustl.edu 37 X 8434329 8434329 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 8434329 8434329 C T SNP VCX3B ENST00000444481 human ensembl 70_37 +1 known nonsense c.556 p.Q186* 0.000 NULL NULL - no_errors VCX3B HGNC VEGFC 7424 genome.wustl.edu 37 4 177713352 177713352 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 177713352 177713352 G A SNP VEGFC ENST00000280193 human ensembl 70_37 -1 known silent c.114 p.L38 0.857 NULL pfam_PD_growth_factor,pfam_CXCXC_repeat,smart_PD_growth_factor,pfscan_PD_growth_factor - no_errors VEGFC HGNC VEZT 55591 genome.wustl.edu 37 12 95694220 95694220 + Missense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 95694220 95694220 G T SNP VEZT ENST00000436874 human ensembl 70_37 +1 known missense c.2111 p.G704V 0.000 NULL NULL - no_errors VEZT HGNC VPS11 55823 genome.wustl.edu 37 11 118938588 118938588 + RNA SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 11 118938588 118938588 G T SNP VPS11 ENST00000300793 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors VPS11 HGNC VPS13D 55187 genome.wustl.edu 37 1 12408985 12408985 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 12408985 12408985 G C SNP VPS13D ENST00000358136 human ensembl 70_37 +1 known missense c.9175 p.E3059Q 1.000 NULL pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC VPS37A 137492 genome.wustl.edu 37 8 17126424 17126424 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 17126424 17126424 G C SNP VPS37A ENST00000324849 human ensembl 70_37 +1 known missense c.375 p.K125N 1.000 superfamily_UBQ-conjugating_enzyme/RWD pfam_Mod_r,superfamily_UBQ-conjugating_enzyme/RWD - no_errors VPS37A HGNC VSIG1 340547 genome.wustl.edu 37 X 107319386 107319386 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 107319386 107319386 C T SNP VSIG1 ENST00000415430 human ensembl 70_37 +1 known silent c.876 p.F292 0.008 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors VSIG1 HGNC VWA7 80737 genome.wustl.edu 37 6 31734272 31734272 + Nonsense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 31734272 31734272 G A SNP VWA7 ENST00000375686 human ensembl 70_37 -1 known nonsense c.2152 p.Q718* 1.000 NULL NULL - no_errors VWA7 HGNC WASF1 8936 genome.wustl.edu 37 6 110424697 110424697 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 110424697 110424697 C G SNP WASF1 ENST00000359451 human ensembl 70_37 -1 known missense c.777 p.Q259H 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF1 HGNC WDFY3 23001 genome.wustl.edu 37 4 85731124 85731124 + Nonsense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 85731124 85731124 G C SNP WDFY3 ENST00000295888 human ensembl 70_37 -1 known nonsense c.2261 p.S754* 0.002 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC WDR1 9948 genome.wustl.edu 37 4 10117966 10117966 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 10117966 10117966 G A SNP WDR1 ENST00000505851 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors WDR1 HGNC WDR11 55717 genome.wustl.edu 37 10 122668850 122668850 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 122668850 122668850 G C SNP WDR11 ENST00000497136 human ensembl 70_37 +1 known rna NULL NULL 0.011 - - - no_errors WDR11 HGNC WDR17 116966 genome.wustl.edu 37 4 177046476 177046476 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 177046476 177046476 C T SNP WDR17 ENST00000280190 human ensembl 70_37 +1 known missense c.832 p.P278S 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC WDR19 57728 genome.wustl.edu 37 4 39271645 39271645 + Silent SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 39271645 39271645 G C SNP WDR19 ENST00000399820 human ensembl 70_37 +1 known silent c.3408 p.L1136 0.917 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR19 HGNC WDR44 54521 genome.wustl.edu 37 X 117480348 117480348 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 117480348 117480348 C G SNP WDR44 ENST00000493448 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors WDR44 HGNC WDR45 11152 genome.wustl.edu 37 X 48934502 48934502 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 48934502 48934502 C T SNP WDR45 ENST00000470270 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors WDR45 HGNC WDR66 144406 genome.wustl.edu 37 12 122413586 122413586 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 12 122413586 122413586 G A SNP WDR66 ENST00000288912 human ensembl 70_37 +1 known missense c.3001 p.E1001K 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC WDR90 197335 genome.wustl.edu 37 16 705684 705684 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 705684 705684 G A SNP WDR90 ENST00000549091 human ensembl 70_37 +1 novel silent c.1830 p.Q610 0.920 superfamily_Quinonprotein_ADH-like,smart_WD40_repeat pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC WFIKKN2 124857 genome.wustl.edu 37 17 48917592 48917592 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 48917592 48917592 G C SNP WFIKKN2 ENST00000311378 human ensembl 70_37 +1 known missense c.943 p.E315Q 0.741 NULL pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m - no_errors WFIKKN2 HGNC WHSC1 7468 genome.wustl.edu 37 4 1918753 1918753 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 1918753 1918753 G A SNP WHSC1 ENST00000382891 human ensembl 70_37 +1 known missense c.916 p.E306K 1.000 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_superfamily,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_PWWP,smart_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_superfamily - no_errors WHSC1 HGNC WHSC1 7468 genome.wustl.edu 37 4 1919928 1919928 + Nonsense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 1919928 1919928 G T SNP WHSC1 ENST00000382891 human ensembl 70_37 +1 known nonsense c.988 p.E330* 0.233 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_superfamily,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_PWWP,smart_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_superfamily - no_errors WHSC1 HGNC WIPF1 7456 genome.wustl.edu 37 2 175431874 175431874 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 175431874 175431874 G A SNP WIPF1 ENST00000272746 human ensembl 70_37 -1 known silent c.1380 p.S460 0.997 NULL smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF1 HGNC WNK4 65266 genome.wustl.edu 37 17 40947102 40947102 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 40947102 40947102 C T SNP WNK4 ENST00000246914 human ensembl 70_37 +1 known missense c.2663 p.S888F 0.920 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK4 HGNC WWOX 51741 genome.wustl.edu 37 16 78466405 78466405 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 78466405 78466405 C G SNP WWOX ENST00000566780 human ensembl 70_37 +1 known missense c.812 p.S271C 1.000 NULL pfam_WW_Rsp5_WWP,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP,prints_Glc/ribitol_DH - no_errors WWOX HGNC YARS 8565 genome.wustl.edu 37 1 33245679 33245679 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 33245679 33245679 C T SNP YARS ENST00000490826 human ensembl 70_37 -1 known rna NULL NULL 0.618 - - - no_errors YARS HGNC YARS 8565 genome.wustl.edu 37 1 33245725 33245725 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 33245725 33245725 C G SNP YARS ENST00000373477 human ensembl 70_37 -1 known missense c.1295 p.R432T 1.000 pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold-like,pfscan_tRNA-bd_dom pfam_aa-tRNA-synth_Ic,pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold-like,pfscan_tRNA-bd_dom,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase - no_errors YARS HGNC YEATS2 55689 genome.wustl.edu 37 3 183495367 183495367 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 183495367 183495367 C G SNP YEATS2 ENST00000305135 human ensembl 70_37 +1 known missense c.2615 p.S872C 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC YLPM1 56252 genome.wustl.edu 37 14 75248736 75248736 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 14 75248736 75248736 G A SNP YLPM1 ENST00000325680 human ensembl 70_37 +1 known missense c.1990 p.E664K 1.000 NULL superfamily_FH2_actin-bd - no_errors YLPM1 Uniprot_genename YWHAZ 7534 genome.wustl.edu 37 8 101932975 101932975 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 101932975 101932975 C G SNP YWHAZ ENST00000353245 human ensembl 70_37 -1 known missense c.684 p.W228C 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAZ HGNC ZBTB11 27107 genome.wustl.edu 37 3 101384145 101384145 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 101384145 101384145 C G SNP ZBTB11 ENST00000312938 human ensembl 70_37 -1 known missense c.1286 p.R429T 0.001 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB11 HGNC ZBTB46 140685 genome.wustl.edu 37 20 62378450 62378450 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 20 62378450 62378450 G C SNP ZBTB46 ENST00000245663 human ensembl 70_37 -1 known missense c.1603 p.L535V 0.986 NULL pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ZBTB47 92999 genome.wustl.edu 37 3 42700652 42700652 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 42700652 42700652 G A SNP ZBTB47 ENST00000232974 human ensembl 70_37 +1 known missense c.805 p.E269K 0.973 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB47 HGNC ZBTB6 10773 genome.wustl.edu 37 9 125673272 125673272 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 125673272 125673272 C T SNP ZBTB6 ENST00000373659 human ensembl 70_37 -1 known silent c.1080 p.L360 0.966 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB6 HGNC ZBTB7B 51043 genome.wustl.edu 37 1 154975263 154975263 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 154975263 154975263 G A SNP ZBTB7B ENST00000487542 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ZBTB7B HGNC ZC3H11A 9877 genome.wustl.edu 37 1 203819566 203819566 + RNA SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 203819566 203819566 G C SNP ZC3H11A ENST00000488411 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ZC3H11A HGNC ZEB1 6935 genome.wustl.edu 37 10 31815698 31815698 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 31815698 31815698 C T SNP ZEB1 ENST00000361642 human ensembl 70_37 +1 known nonsense c.2884 p.Q962* 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ZEB2 9839 genome.wustl.edu 37 2 145147383 145147383 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 2 145147383 145147383 C T SNP ZEB2 ENST00000303660 human ensembl 70_37 -1 known missense c.3280 p.E1094K 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ZFHX3 463 genome.wustl.edu 37 16 72984640 72984640 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 72984640 72984640 C T SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known missense c.2944 p.D982N 1.000 smart_Znf_U1 pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ZFHX4 79776 genome.wustl.edu 37 8 77767390 77767390 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 77767390 77767390 G C SNP ZFHX4 ENST00000521891 human ensembl 70_37 +1 known missense c.8233 p.E2745Q 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ZFP90 146198 genome.wustl.edu 37 16 68592277 68592277 + Splice_Site SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 68592277 68592277 G C SNP ZFP90 ENST00000564558 human ensembl 70_37 +1 known splice_site c.161-1 e3-1 1.000 - - - no_errors ZFP90 HGNC ZFPM1 161882 genome.wustl.edu 37 16 88599036 88599036 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 88599036 88599036 G A SNP ZFPM1 ENST00000319555 human ensembl 70_37 +1 known missense c.961 p.V321M 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM1 HGNC ZFYVE9 9372 genome.wustl.edu 37 1 52798442 52798442 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 1 52798442 52798442 G C SNP ZFYVE9 ENST00000287727 human ensembl 70_37 +1 known missense c.3441 p.M1147I 1.000 pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE9 HGNC ZKSCAN5 23660 genome.wustl.edu 37 7 99104013 99104013 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 99104013 99104013 G A SNP ZKSCAN5 ENST00000326775 human ensembl 70_37 +1 known missense c.346 p.E116K 0.023 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN5 HGNC ZNF100 163227 genome.wustl.edu 37 19 21909817 21909817 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 21909817 21909817 C G SNP ZNF100 ENST00000358296 human ensembl 70_37 -1 known missense c.1297 p.E433Q 0.043 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF100 HGNC ZNF131 7690 genome.wustl.edu 37 5 43161601 43161601 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 43161601 43161601 G A SNP ZNF131 ENST00000399534 human ensembl 70_37 +1 known missense c.622 p.D208N 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF131 HGNC ZNF14 7561 genome.wustl.edu 37 19 19822546 19822546 + Nonsense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 19822546 19822546 G C SNP ZNF14 ENST00000344099 human ensembl 70_37 -1 known nonsense c.1544 p.S515* 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF14 HGNC ZNF16 7564 genome.wustl.edu 37 8 146157669 146157669 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 8 146157669 146157669 C T SNP ZNF16 ENST00000276816 human ensembl 70_37 -1 known silent c.504 p.L168 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF16 HGNC ZNF236 7776 genome.wustl.edu 37 18 74593330 74593330 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 74593330 74593330 C G SNP ZNF236 ENST00000253159 human ensembl 70_37 +1 known missense c.1273 p.Q425E 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ZNF271 10778 genome.wustl.edu 37 18 32890708 32890708 + RNA SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 18 32890708 32890708 C T SNP ZNF271 ENST00000399070 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors ZNF271 HGNC ZNF365 22891 genome.wustl.edu 37 10 64162065 64162065 + RNA SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 10 64162065 64162065 C G SNP ZNF365 ENST00000466727 human ensembl 70_37 +1 known rna NULL NULL 0.016 - - - no_errors ZNF365 HGNC ZNF382 84911 genome.wustl.edu 37 19 37118330 37118330 + Nonsense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 37118330 37118330 C T SNP ZNF382 ENST00000292928 human ensembl 70_37 +1 known nonsense c.1531 p.Q511* 0.998 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF382 HGNC ZNF394 84124 genome.wustl.edu 37 7 99091372 99091372 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 99091372 99091372 C T SNP ZNF394 ENST00000337673 human ensembl 70_37 -1 known missense c.1466 p.R489K 0.992 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF394 HGNC ZNF462 58499 genome.wustl.edu 37 9 109688129 109688129 + Missense_Mutation SNP G G T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 109688129 109688129 G T SNP ZNF462 ENST00000457913 human ensembl 70_37 +1 known missense c.1936 p.D646Y 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ZNF483 158399 genome.wustl.edu 37 9 114304895 114304895 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 114304895 114304895 C T SNP ZNF483 ENST00000309235 human ensembl 70_37 +1 known silent c.1680 p.F560 0.998 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF483 HGNC ZNF536 9745 genome.wustl.edu 37 19 30936474 30936474 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 30936474 30936474 G A SNP ZNF536 ENST00000355537 human ensembl 70_37 +1 known missense c.2005 p.D669N 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ZNF544 27300 genome.wustl.edu 37 19 58772988 58772988 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 58772988 58772988 C T SNP ZNF544 ENST00000269829 human ensembl 70_37 +1 known missense c.1016 p.S339L 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF544 HGNC ZNF622 90441 genome.wustl.edu 37 5 16465642 16465642 + Nonsense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 5 16465642 16465642 C A SNP ZNF622 ENST00000308683 human ensembl 70_37 -1 known nonsense c.133 p.E45* 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF622 HGNC ZNF658 26149 genome.wustl.edu 37 9 40768503 40768503 + Splice_Site SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 9 40768503 40768503 C T SNP ZNF658 ENST00000479710 human ensembl 70_37 -1 known splice_site c.1854+1 e5+1 0.039 - - - no_errors ZNF658 HGNC ZNF668 79759 genome.wustl.edu 37 16 31075397 31075397 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 16 31075397 31075397 G A SNP ZNF668 ENST00000426488 human ensembl 70_37 -1 known silent c.453 p.R151 0.527 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF668 HGNC ZNF674 641339 genome.wustl.edu 37 X 46359523 46359523 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 X 46359523 46359523 C T SNP ZNF674 ENST00000523374 human ensembl 70_37 -1 known missense c.1501 p.D501N 0.595 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF674 HGNC ZNF677 342926 genome.wustl.edu 37 19 53741588 53741588 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 53741588 53741588 C G SNP ZNF677 ENST00000333952 human ensembl 70_37 -1 known missense c.392 p.R131T 0.118 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF677 HGNC ZNF714 148206 genome.wustl.edu 37 19 21300302 21300302 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 21300302 21300302 C G SNP ZNF714 ENST00000596143 human ensembl 70_37 +1 known missense c.832 p.H278D 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF714 HGNC ZNF732 654254 genome.wustl.edu 37 4 266185 266185 + Nonsense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 4 266185 266185 G C SNP ZNF732 ENST00000419098 human ensembl 70_37 -1 known nonsense c.461 p.S154* 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF732 HGNC ZNF750 79755 genome.wustl.edu 37 17 80790291 80790291 + Missense_Mutation SNP A A C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 17 80790291 80790291 A C SNP ZNF750 ENST00000269394 human ensembl 70_37 -1 known missense c.40 p.Y14D 1.000 NULL NULL - no_errors ZNF750 HGNC ZNF761 388561 genome.wustl.edu 37 19 53958418 53958418 + RNA SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 53958418 53958418 G A SNP ZNF761 ENST00000334095 human ensembl 70_37 +1 known rna NULL NULL 0.245 - - - no_errors ZNF761 HGNC ZNF790 388536 genome.wustl.edu 37 19 37314690 37314690 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 37314690 37314690 C G SNP ZNF790 ENST00000356725 human ensembl 70_37 -1 known missense c.12 p.L4F 0.037 superfamily_Krueppel-associated_box 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 ZNF790 HGNC ZNF80 7634 genome.wustl.edu 37 3 113955471 113955471 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 113955471 113955471 G A SNP ZNF80 ENST00000308095 human ensembl 70_37 -1 known missense c.451 p.H151Y 0.580 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF80 HGNC ZNF852 285346 genome.wustl.edu 37 3 44541845 44541845 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 44541845 44541845 G A SNP ZNF852 ENST00000436261 human ensembl 70_37 -1 known silent c.424 p.L142 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF852 HGNC ZNF880 400713 genome.wustl.edu 37 19 52887111 52887111 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 52887111 52887111 C T SNP ZNF880 ENST00000422689 human ensembl 70_37 +1 known missense c.278 p.S93F 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF880 HGNC ZNRF2 223082 genome.wustl.edu 37 7 30402033 30402033 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 7 30402033 30402033 G C SNP ZNRF2 ENST00000323037 human ensembl 70_37 +1 known missense c.712 p.E238Q 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF2 HGNC ZPLD1 131368 genome.wustl.edu 37 3 102157389 102157389 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 3 102157389 102157389 C G SNP ZPLD1 ENST00000306176 human ensembl 70_37 +1 known missense c.106 p.Q36E 1.000 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors ZPLD1 HGNC ZSCAN12 9753 genome.wustl.edu 37 6 28359508 28359508 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 6 28359508 28359508 C G SNP ZSCAN12 ENST00000361028 human ensembl 70_37 -1 known missense c.559 p.E187Q 0.858 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN12 HGNC ZSCAN5B 342933 genome.wustl.edu 37 19 56701340 56701340 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 56701340 56701340 G A SNP ZSCAN5B ENST00000358992 human ensembl 70_37 -1 known silent c.1344 p.F448 0.381 pfam_Znf_C2H2,smart_Znf_C2H2-like,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 ZSCAN5B HGNC ZSCAN5B 342933 genome.wustl.edu 37 19 56701869 56701869 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f36ad45-4cdb-48d3-b363-e52bcc64cb12 1fb15f75-d4fd-40f5-8fd1-3169149fbf40 19 56701869 56701869 G C SNP ZSCAN5B ENST00000358992 human ensembl 70_37 -1 known missense c.815 p.S272C 0.000 NULL 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 ZSCAN5B HGNC