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 ABCA5 23461 genome.wustl.edu 37 17 67261034 67261034 + Missense_Mutation SNP T T C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 17 67261034 67261034 T C SNP ABCA5 ENST00000392677 human ensembl 70_37 -1 known missense c.3160 p.T1054A 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ABCA5 23461 genome.wustl.edu 37 17 67261034 67261034 + Missense_Mutation SNP T T C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 17 67261034 67261034 T C SNP ABCA5 ENST00000392677 human ensembl 70_37 -1 known missense c.3160 p.T1054A 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ABCB6 10058 genome.wustl.edu 37 2 220075187 220075187 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 2 220075187 220075187 G A SNP ABCB6 ENST00000265316 human ensembl 70_37 -1 known missense c.2267 p.A756V 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like 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 ABCB6 HGNC ABCB8 11194 genome.wustl.edu 37 7 150739173 150739173 + Silent SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 7 150739173 150739173 C A SNP ABCB8 ENST00000297504 human ensembl 70_37 +1 known silent c.1794 p.P598 0.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like 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 ABCB8 HGNC ADAMTSL3 57188 genome.wustl.edu 37 15 84373210 84373210 + Missense_Mutation SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 15 84373210 84373210 C G SNP ADAMTSL3 ENST00000286744 human ensembl 70_37 +1 known missense c.139 p.L47V 0.988 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ADAMTSL3 57188 genome.wustl.edu 37 15 84373210 84373210 + Missense_Mutation SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 15 84373210 84373210 C G SNP ADAMTSL3 ENST00000286744 human ensembl 70_37 +1 known missense c.139 p.L47V 0.988 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ADCY2 108 genome.wustl.edu 37 5 7692129 7692129 + RNA SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 5 7692129 7692129 C A SNP ADCY2 ENST00000513693 human ensembl 70_37 +1 putative rna NULL NULL 0.003 - - - no_errors ADCY2 HGNC AIFM1 9131 genome.wustl.edu 37 X 129299534 129299534 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d X 129299534 129299534 G A SNP AIFM1 ENST00000287295 human ensembl 70_37 -1 known missense c.97 p.R33W 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase - no_errors AIFM1 HGNC ANKFY1 51479 genome.wustl.edu 37 17 4077219 4077219 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 17 4077219 4077219 C T SNP ANKFY1 ENST00000570535 human ensembl 70_37 -1 known missense c.3034 p.E1012K 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ANKFY1 51479 genome.wustl.edu 37 17 4077219 4077219 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 17 4077219 4077219 C T SNP ANKFY1 ENST00000570535 human ensembl 70_37 -1 known missense c.3034 p.E1012K 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ANKRD53 79998 genome.wustl.edu 37 2 71209788 71209788 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 2 71209788 71209788 G A SNP ANKRD53 ENST00000272421 human ensembl 70_37 +1 known silent c.864 p.Q288 0.602 superfamily_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 ANKRD53 HGNC ANKRD53 79998 genome.wustl.edu 37 2 71209788 71209788 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 2 71209788 71209788 G A SNP ANKRD53 ENST00000272421 human ensembl 70_37 +1 known silent c.864 p.Q288 0.602 superfamily_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 ANKRD53 HGNC ANKRD6 22881 genome.wustl.edu 37 6 90312810 90312810 + Silent SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 6 90312810 90312810 C T SNP ANKRD6 ENST00000339746 human ensembl 70_37 +1 known silent c.282 p.L94 0.988 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,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 ANKRD6 HGNC ANKRD6 22881 genome.wustl.edu 37 6 90312810 90312810 + Silent SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 6 90312810 90312810 C T SNP ANKRD6 ENST00000339746 human ensembl 70_37 +1 known silent c.282 p.L94 0.988 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,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 ANKRD6 HGNC APBA3 9546 genome.wustl.edu 37 19 3760026 3760026 + Silent SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 3760026 3760026 G T SNP APBA3 ENST00000316757 human ensembl 70_37 -1 known silent c.237 p.A79 0.355 NULL pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom - no_errors APBA3 HGNC APIP 51074 genome.wustl.edu 37 11 34877323 34877323 + RNA SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 11 34877323 34877323 C G SNP APIP ENST00000532428 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors APIP HGNC ARID1A 8289 genome.wustl.edu 37 1 27100375 27100375 + Nonsense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 27100375 27100375 C T SNP ARID1A ENST00000324856 human ensembl 70_37 +1 known nonsense c.4087 p.Q1363* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ARID1A 8289 genome.wustl.edu 37 1 27100375 27100375 + Nonsense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 27100375 27100375 C T SNP ARID1A ENST00000324856 human ensembl 70_37 +1 known nonsense c.4087 p.Q1363* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ARID3A 1820 genome.wustl.edu 37 19 964968 964968 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 964968 964968 G A SNP ARID3A ENST00000263620 human ensembl 70_37 +1 known silent c.1086 p.S362 0.114 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3A HGNC ARID3A 1820 genome.wustl.edu 37 19 964968 964968 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 964968 964968 G A SNP ARID3A ENST00000263620 human ensembl 70_37 +1 known silent c.1086 p.S362 0.114 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3A HGNC ARMCX3-AS1 100128574 genome.wustl.edu 37 X 100878294 100878294 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d X 100878294 100878294 C T SNP ARMCX3-AS1 ENST00000454228 human ensembl 70_37 -1 known rna NULL NULL 0.071 - - - no_errors ARMCX3-AS1 HGNC ATP2C2 9914 genome.wustl.edu 37 16 84497327 84497327 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 84497327 84497327 G A SNP ATP2C2 ENST00000262429 human ensembl 70_37 +1 known missense c.2830 p.E944K 0.001 NULL 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,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,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2C2 HGNC BAHCC1 57597 genome.wustl.edu 37 17 79411745 79411745 + Missense_Mutation SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 17 79411745 79411745 C A SNP BAHCC1 ENST00000307745 human ensembl 70_37 +1 known missense c.2564 p.S855Y 0.981 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHCC1 HGNC BAHCC1 57597 genome.wustl.edu 37 17 79411745 79411745 + Missense_Mutation SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 17 79411745 79411745 C A SNP BAHCC1 ENST00000307745 human ensembl 70_37 +1 known missense c.2564 p.S855Y 0.981 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHCC1 HGNC BCLAF1 9774 genome.wustl.edu 37 6 136599911 136599911 + Silent SNP A A G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 6 136599911 136599911 A G SNP BCLAF1 ENST00000531224 human ensembl 70_37 -1 known silent c.108 p.S36 1.000 NULL NULL - no_errors BCLAF1 HGNC BDNF-AS 497258 genome.wustl.edu 37 11 27561609 27561609 + RNA SNP T T G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 11 27561609 27561609 T G SNP BDNF-AS ENST00000499008 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors BDNF-AS HGNC BGN 633 genome.wustl.edu 37 X 152771463 152771463 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d X 152771463 152771463 G A SNP BGN ENST00000331595 human ensembl 70_37 +1 known missense c.494 p.R165H 1.000 smart_Leu-rich_rpt_typical-subtyp,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 BGN HGNC BGN 633 genome.wustl.edu 37 X 152771463 152771463 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d X 152771463 152771463 G A SNP BGN ENST00000331595 human ensembl 70_37 +1 known missense c.494 p.R165H 1.000 smart_Leu-rich_rpt_typical-subtyp,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 BGN HGNC BGN 633 genome.wustl.edu 37 X 152774523 152774523 + RNA SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d X 152774523 152774523 G C SNP BGN ENST00000472615 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors BGN HGNC BRD1 23774 genome.wustl.edu 37 22 50191531 50191531 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 22 50191531 50191531 C T SNP BRD1 ENST00000216267 human ensembl 70_37 -1 known missense c.2020 p.G674S 1.000 superfamily_Bromodomain pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD1 HGNC BRD1 23774 genome.wustl.edu 37 22 50191531 50191531 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 22 50191531 50191531 C T SNP BRD1 ENST00000216267 human ensembl 70_37 -1 known missense c.2020 p.G674S 1.000 superfamily_Bromodomain pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD1 HGNC C1orf222 85452 genome.wustl.edu 37 1 1896464 1896464 + Missense_Mutation SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 1896464 1896464 C A SNP C1orf222 ENST00000270720 human ensembl 70_37 -1 known missense c.1438 p.G480W 0.949 NULL NULL - no_errors C1orf222 HGNC C1orf35 79169 genome.wustl.edu 37 1 228289823 228289823 + Nonsense_Mutation SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 228289823 228289823 G T SNP C1orf35 ENST00000272139 human ensembl 70_37 -1 known nonsense c.491 p.S164* 0.027 NULL pfam_Kinase_phosphorylation_domain - no_errors C1orf35 HGNC C6orf89 221477 genome.wustl.edu 37 6 36853743 36853743 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 6 36853743 36853743 C T SNP C6orf89 ENST00000480824 human ensembl 70_37 +1 known rna NULL NULL 0.765 - - - no_errors C6orf89 HGNC CAMLG 819 genome.wustl.edu 37 5 134074479 134074479 + Missense_Mutation SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 5 134074479 134074479 G T SNP CAMLG ENST00000297156 human ensembl 70_37 +1 known missense c.169 p.A57S 0.992 pirsf_Ca_signal-mod_cyclophilin_lig pirsf_Ca_signal-mod_cyclophilin_lig - no_errors CAMLG HGNC CAMLG 819 genome.wustl.edu 37 5 134074480 134074480 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 5 134074480 134074480 C T SNP CAMLG ENST00000297156 human ensembl 70_37 +1 known missense c.170 p.A57V 0.845 pirsf_Ca_signal-mod_cyclophilin_lig pirsf_Ca_signal-mod_cyclophilin_lig - no_errors CAMLG HGNC CBLN1 869 genome.wustl.edu 37 16 49313390 49313390 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 49313390 49313390 G A SNP CBLN1 ENST00000219197 human ensembl 70_37 -1 known silent c.507 p.L169 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN1 HGNC CBLN1 869 genome.wustl.edu 37 16 49313390 49313390 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 49313390 49313390 G A SNP CBLN1 ENST00000219197 human ensembl 70_37 -1 known silent c.507 p.L169 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN1 HGNC ACKR2 1238 genome.wustl.edu 37 3 42906204 42906204 + Silent SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 42906204 42906204 C A SNP CCBP2 ENST00000273145 human ensembl 70_37 +1 known silent c.210 p.V70 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_ATII_rcpt,prints_Chemokine_CXCR4 - no_errors CCBP2 HGNC CCDC148-AS1 554201 genome.wustl.edu 37 2 159034575 159034575 + RNA SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 2 159034575 159034575 G A SNP CCDC148-AS1 ENST00000412781 human ensembl 70_37 +1 known rna NULL NULL 0.036 - - - no_errors CCDC148-AS1 HGNC CD97 976 genome.wustl.edu 37 19 14516688 14516688 + Silent SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 14516688 14516688 C G SNP CD97 ENST00000242786 human ensembl 70_37 +1 known silent c.1758 p.L586 0.998 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC CD97 976 genome.wustl.edu 37 19 14516688 14516688 + Silent SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 14516688 14516688 C G SNP CD97 ENST00000242786 human ensembl 70_37 +1 known silent c.1758 p.L586 0.998 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC CEP85 64793 genome.wustl.edu 37 1 26603964 26603964 + RNA SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 26603964 26603964 G T SNP CEP85 ENST00000469609 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors CEP85 HGNC CHTF8 54921 genome.wustl.edu 37 16 69153668 69153668 + Missense_Mutation SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 69153668 69153668 G C SNP CHTF8 ENST00000306585 human ensembl 70_37 -1 known missense c.664 p.P222A 0.985 NULL NULL - no_errors CHTF8 HGNC CMSS1 84319 genome.wustl.edu 37 3 99536827 99536827 + Missense_Mutation SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 99536827 99536827 G T SNP CMSS1 ENST00000421999 human ensembl 70_37 +1 known missense c.4 p.A2S 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N - no_errors CMSS1 HGNC CMSS1 84319 genome.wustl.edu 37 3 99536827 99536827 + Missense_Mutation SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 99536827 99536827 G T SNP CMSS1 ENST00000421999 human ensembl 70_37 +1 known missense c.4 p.A2S 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N - no_errors CMSS1 HGNC CNTD1 124817 genome.wustl.edu 37 17 40961915 40961915 + RNA SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 17 40961915 40961915 G C SNP CNTD1 ENST00000315066 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CNTD1 HGNC CNTD1 124817 genome.wustl.edu 37 17 40962557 40962557 + RNA SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 17 40962557 40962557 G C SNP CNTD1 ENST00000315066 human ensembl 70_37 +1 known rna NULL NULL 0.011 - - - no_errors CNTD1 HGNC CTNNA1 1495 genome.wustl.edu 37 5 138253527 138253527 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 5 138253527 138253527 C T SNP CTNNA1 ENST00000302763 human ensembl 70_37 +1 known missense c.1486 p.R496C 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC CTNNA1 1495 genome.wustl.edu 37 5 138253527 138253527 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 5 138253527 138253527 C T SNP CTNNA1 ENST00000302763 human ensembl 70_37 +1 known missense c.1486 p.R496C 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC CYP3A5 1577 genome.wustl.edu 37 7 99264297 99264297 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 7 99264297 99264297 C T SNP CYP3A5 ENST00000222982 human ensembl 70_37 -1 known missense c.448 p.A150T 0.003 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A5 HGNC DISP1 84976 genome.wustl.edu 37 1 223116265 223116265 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 223116265 223116265 G A SNP DISP1 ENST00000284476 human ensembl 70_37 +1 known missense c.100 p.D34N 1.000 NULL pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors DISP1 HGNC DISP1 84976 genome.wustl.edu 37 1 223116265 223116265 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 223116265 223116265 G A SNP DISP1 ENST00000284476 human ensembl 70_37 +1 known missense c.100 p.D34N 1.000 NULL pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors DISP1 HGNC DLGAP1-AS4 101410534 genome.wustl.edu 37 18 3993182 3993182 + RNA SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 18 3993182 3993182 G T SNP DLGAP1-AS4 ENST00000582054 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors DLGAP1-AS4 HGNC DTD1 92675 genome.wustl.edu 37 20 18576746 18576746 + Silent SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 20 18576746 18576746 C A SNP DTD1 ENST00000377452 human ensembl 70_37 +1 known silent c.231 p.V77 1.000 pfam_DTyrtRNA_deacyls,superfamily_DTD-like_dom,tigrfam_DTyrtRNA_deacyls pfam_DTyrtRNA_deacyls,superfamily_DTD-like_dom,tigrfam_DTyrtRNA_deacyls - no_errors DTD1 HGNC DTD1 92675 genome.wustl.edu 37 20 18576746 18576746 + Silent SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 20 18576746 18576746 C A SNP DTD1 ENST00000377452 human ensembl 70_37 +1 known silent c.231 p.V77 1.000 pfam_DTyrtRNA_deacyls,superfamily_DTD-like_dom,tigrfam_DTyrtRNA_deacyls pfam_DTyrtRNA_deacyls,superfamily_DTD-like_dom,tigrfam_DTyrtRNA_deacyls - no_errors DTD1 HGNC EFHB 151651 genome.wustl.edu 37 3 19988414 19988414 + RNA SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 19988414 19988414 G T SNP EFHB ENST00000474780 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors EFHB HGNC ENSG00000203650 0 genome.wustl.edu 37 X 117991591 117991591 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d X 117991591 117991591 C T SNP ENSG00000203650 ENST00000412422 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors RP4-562J12.2 Clone_based_vega_gene ENSG00000214955 0 genome.wustl.edu 37 21 35697304 35697304 + RNA SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 21 35697304 35697304 G A SNP ENSG00000214955 ENST00000427022 human ensembl 70_37 +1 known rna NULL NULL 0.036 - - - no_errors AP000318.2 Clone_based_vega_gene ENSG00000223727 0 genome.wustl.edu 37 3 3357210 3357210 + RNA SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 3357210 3357210 G T SNP ENSG00000223727 ENST00000455703 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors AC026188.1 Clone_based_vega_gene ENSG00000224459 0 genome.wustl.edu 37 1 16076186 16076186 + RNA SNP A A G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 16076186 16076186 A G SNP ENSG00000224459 ENST00000418525 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-169K16.4 Clone_based_vega_gene ENSG00000225278 0 genome.wustl.edu 37 1 143265424 143265424 + RNA SNP T T G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 143265424 143265424 T G SNP ENSG00000225278 ENST00000416367 human ensembl 70_37 -1 known rna NULL NULL 0.272 - - - no_errors BX571672.5 Clone_based_vega_gene ENSG00000226376 0 genome.wustl.edu 37 9 7932139 7932139 + RNA SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 9 7932139 7932139 C A SNP ENSG00000226376 ENST00000413066 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors RP11-29B9.1 Clone_based_vega_gene ENSG00000233048 0 genome.wustl.edu 37 20 12846314 12846314 + RNA SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 20 12846314 12846314 G A SNP ENSG00000233048 ENST00000456265 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP5-1069C8.2 Clone_based_vega_gene ENSG00000233223 0 genome.wustl.edu 37 17 7485338 7485339 + RNA INS - - CCCA TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 17 7485338 7485339 - CCCA INS ENSG00000233223 ENST00000415124 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors AC113189.5 Clone_based_vega_gene ENSG00000233817 0 genome.wustl.edu 37 9 116382726 116382726 + RNA SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 9 116382726 116382726 G T SNP ENSG00000233817 ENST00000437712 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-168K11.3 Clone_based_vega_gene ENSG00000237921 0 genome.wustl.edu 37 7 19857692 19857692 + RNA SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 7 19857692 19857692 G C SNP ENSG00000237921 ENST00000418764 human ensembl 70_37 -1 known rna NULL NULL 0.057 - - - no_errors AC004543.2 Clone_based_vega_gene ENSG00000238290 0 genome.wustl.edu 37 1 8182160 8182160 + RNA SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 8182160 8182160 C A SNP ENSG00000238290 ENST00000445300 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-431K24.1 Clone_based_vega_gene ENSG00000239235 0 genome.wustl.edu 37 2 54198339 54198339 + RNA SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 2 54198339 54198339 G C SNP ENSG00000239235 ENST00000422521 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC008280.5 Clone_based_vega_gene ENSG00000240553 0 genome.wustl.edu 37 1 23346978 23346979 + RNA INS - - T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 23346978 23346979 - T INS ENSG00000240553 ENST00000427154 human ensembl 70_37 -1 putative rna NULL NULL 0.000:0.000 - - - no_errors RP1-184J9.2 Clone_based_vega_gene ENSG00000242193 0 genome.wustl.edu 37 1 178006533 178006533 + RNA SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 178006533 178006533 C G SNP ENSG00000242193 ENST00000481349 human ensembl 70_37 -1 putative rna NULL NULL 0.002 - - - no_errors RP11-568K15.1 Clone_based_vega_gene ENSG00000248416 0 genome.wustl.edu 37 4 716118 716118 + RNA SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 4 716118 716118 G T SNP ENSG00000248416 ENST00000502923 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors RP11-1191J2.4 Clone_based_vega_gene ENSG00000249196 0 genome.wustl.edu 37 12 129595958 129595958 + RNA SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 12 129595958 129595958 G A SNP ENSG00000249196 ENST00000512133 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-669N7.2 Clone_based_vega_gene ENSG00000249694 0 genome.wustl.edu 37 8 2453789 2453789 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 8 2453789 2453789 C T SNP ENSG00000249694 ENST00000515276 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-378A12.1 Clone_based_vega_gene ENSG00000251176 0 genome.wustl.edu 37 4 172485127 172485127 + RNA SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 4 172485127 172485127 C A SNP ENSG00000251176 ENST00000399152 human ensembl 70_37 -1 putative rna NULL NULL 0.142 - - - no_errors RP11-97E7.1 Clone_based_vega_gene ENSG00000251632 0 genome.wustl.edu 37 4 138522499 138522499 + RNA SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 4 138522499 138522499 C A SNP ENSG00000251632 ENST00000507365 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-714L20.1 Clone_based_vega_gene ENSG00000252608 0 genome.wustl.edu 37 16 81140204 81140204 + RNA SNP T T A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 81140204 81140204 T A SNP ENSG00000252608 ENST00000516799 human ensembl 70_37 -1 novel rna NULL NULL 0.041 - - - no_errors U6 RFAM ENSG00000254248 0 genome.wustl.edu 37 8 96097859 96097860 + RNA INS - - CA TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 8 96097859 96097860 - CA INS ENSG00000254248 ENST00000518598 human ensembl 70_37 -1 known rna NULL NULL 0.010:0.009 - - - no_errors RP11-320N21.2 Clone_based_vega_gene ENSG00000254339 0 genome.wustl.edu 37 8 115307783 115307783 + RNA SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 8 115307783 115307783 C A SNP ENSG00000254339 ENST00000507929 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-267L5.1 Clone_based_vega_gene ENSG00000254372 0 genome.wustl.edu 37 8 136468729 136468729 + RNA SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 8 136468729 136468729 G T SNP ENSG00000254372 ENST00000518674 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-343P9.1 Clone_based_vega_gene ENSG00000254932 0 genome.wustl.edu 37 11 125128900 125128900 + RNA SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 11 125128900 125128900 G T SNP ENSG00000254932 ENST00000526796 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-687M24.8 Clone_based_vega_gene ENSG00000255864 0 genome.wustl.edu 37 12 24715337 24715337 + RNA SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 12 24715337 24715337 C A SNP ENSG00000255864 ENST00000429944 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-444D3.1 Clone_based_vega_gene ENSG00000256195 0 genome.wustl.edu 37 11 114233247 114233248 + RNA INS - - TGTG TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 11 114233247 114233248 - TGTG INS ENSG00000256195 ENST00000534904 human ensembl 70_37 -1 known rna NULL NULL 0.080:0.101 - - - no_errors RP11-64D24.4 Clone_based_vega_gene ENSG00000256789 0 genome.wustl.edu 37 11 63426389 63426389 + RNA SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 11 63426389 63426389 G T SNP ENSG00000256789 ENST00000540307 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-697H9.2 Clone_based_vega_gene ENSG00000256928 0 genome.wustl.edu 37 11 73106618 73106618 + RNA SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 11 73106618 73106618 G T SNP ENSG00000256928 ENST00000544674 human ensembl 70_37 -1 known rna NULL NULL 0.120 - - - no_errors RP11-809N8.2 Clone_based_vega_gene ENSG00000257048 0 genome.wustl.edu 37 12 3480491 3480491 + RNA SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 12 3480491 3480491 C G SNP ENSG00000257048 ENST00000542449 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors RP11-476M19.2 Clone_based_vega_gene ENSG00000257434 0 genome.wustl.edu 37 12 75435999 75435999 + RNA SNP A A T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 12 75435999 75435999 A T SNP ENSG00000257434 ENST00000547040 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors RP11-81K13.1 Clone_based_vega_gene ENSG00000257540 0 genome.wustl.edu 37 12 52679869 52679869 + RNA SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 12 52679869 52679869 C A SNP ENSG00000257540 ENST00000552398 human ensembl 70_37 -1 putative rna NULL NULL 0.008 - - - no_errors RP11-259K21.3 Clone_based_vega_gene ENSG00000257746 0 genome.wustl.edu 37 12 93485177 93485177 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 12 93485177 93485177 C T SNP ENSG00000257746 ENST00000551928 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-202G11.2 Clone_based_vega_gene ENSG00000260148 0 genome.wustl.edu 37 16 57125933 57125933 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 57125933 57125933 C T SNP ENSG00000260148 ENST00000565829 human ensembl 70_37 -1 known rna NULL NULL 0.490 - - - no_errors RP11-407G23.1 Clone_based_vega_gene ENSG00000261353 0 genome.wustl.edu 37 6 26527477 26527477 + RNA SNP A A G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 6 26527477 26527477 A G SNP ENSG00000261353 ENST00000567732 human ensembl 70_37 +1 known rna NULL NULL 0.126 - - - no_errors CTA-14H9.5 Clone_based_vega_gene ENSG00000263618 0 genome.wustl.edu 37 18 14915534 14915534 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 18 14915534 14915534 C T SNP ENSG00000263618 ENST00000584414 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors RP11-527H14.4 Clone_based_vega_gene ENSG00000264526 0 genome.wustl.edu 37 13 50526720 50526721 + RNA INS - - AT TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 13 50526720 50526721 - AT INS ENSG00000264526 ENST00000579259 human ensembl 70_37 -1 novel rna NULL NULL 0.171:0.169 - - - no_errors AL136123.1 Clone_based_ensembl_gene ENSG00000265629 0 genome.wustl.edu 37 2 14775374 14775374 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 2 14775374 14775374 G A SNP ENSG00000265629 ENST00000581929 human ensembl 70_37 +1 known silent c.48 p.K16 0.001 NULL NULL - no_errors AC011897.1 Clone_based_ensembl_gene ENSG00000266913 0 genome.wustl.edu 37 19 14480915 14480916 + RNA INS - - A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 14480915 14480916 - A INS ENSG00000266913 ENST00000588438 human ensembl 70_37 -1 known rna NULL NULL 0.042:0.009 - - - no_errors CTC-548K16.2 Clone_based_vega_gene ENSG00000266978 0 genome.wustl.edu 37 19 10370889 10370889 + RNA SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 10370889 10370889 C A SNP ENSG00000266978 ENST00000592893 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2369P2.5 Clone_based_vega_gene ENSG00000267239 0 genome.wustl.edu 37 18 13203919 13203919 + RNA SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 18 13203919 13203919 C A SNP ENSG00000267239 ENST00000586278 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors RP11-794M8.1 Clone_based_vega_gene ENTPD2 954 genome.wustl.edu 37 9 139942726 139942726 + RNA SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 9 139942726 139942726 G T SNP ENTPD2 ENST00000460614 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ENTPD2 HGNC EOGT 285203 genome.wustl.edu 37 3 69057628 69057628 + Missense_Mutation SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 69057628 69057628 G T SNP EOGT ENST00000383701 human ensembl 70_37 -1 known missense c.262 p.P88T 0.720 NULL pfam_Glycosyltransferase_AER61 - no_errors EOGT HGNC ERBB3 2065 genome.wustl.edu 37 12 56478854 56478854 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 12 56478854 56478854 G A SNP ERBB3 ENST00000267101 human ensembl 70_37 +1 known missense c.310 p.V104M 0.994 pfam_EGF_rcpt_L,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_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 ERBB3 HGNC ERBB3 2065 genome.wustl.edu 37 12 56478854 56478854 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 12 56478854 56478854 G A SNP ERBB3 ENST00000267101 human ensembl 70_37 +1 known missense c.310 p.V104M 0.994 pfam_EGF_rcpt_L,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_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 ERBB3 HGNC ESPN 83715 genome.wustl.edu 37 1 6500365 6500365 + Silent SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 6500365 6500365 C T SNP ESPN ENST00000377828 human ensembl 70_37 +1 known silent c.540 p.C180 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_WH2_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_WH2_dom - no_errors ESPN HGNC FAM86HP 729375 genome.wustl.edu 37 3 129818006 129818006 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 129818006 129818006 C T SNP FAM86HP ENST00000511564 human ensembl 70_37 -1 putative rna NULL NULL 0.006 - - - no_errors FAM86HP HGNC FERMT3 83706 genome.wustl.edu 37 11 63990963 63990963 + Nonstop_Mutation SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 11 63990963 63990963 G C SNP FERMT3 ENST00000279227 human ensembl 70_37 +1 known nonstop c.2003 p.*668S 0.995 NULL pfam_FERM_central,pfam_Pleckstrin_homology,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT3 HGNC FERMT3 83706 genome.wustl.edu 37 11 63990963 63990963 + Nonstop_Mutation SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 11 63990963 63990963 G C SNP FERMT3 ENST00000279227 human ensembl 70_37 +1 known nonstop c.2003 p.*668S 0.995 NULL pfam_FERM_central,pfam_Pleckstrin_homology,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT3 HGNC FHOD1 29109 genome.wustl.edu 37 16 67271211 67271211 + Silent SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 67271211 67271211 C T SNP FHOD1 ENST00000258201 human ensembl 70_37 -1 known silent c.924 p.A308 0.000 superfamily_ARM-type_fold pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHOD1 HGNC FHOD1 29109 genome.wustl.edu 37 16 67271211 67271211 + Silent SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 67271211 67271211 C T SNP FHOD1 ENST00000258201 human ensembl 70_37 -1 known silent c.924 p.A308 0.000 superfamily_ARM-type_fold pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHOD1 HGNC FHOD3 80206 genome.wustl.edu 37 18 34339099 34339099 + Missense_Mutation SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 18 34339099 34339099 G T SNP FHOD3 ENST00000590592 human ensembl 70_37 +1 putative missense c.4444 p.V1482F 0.354 smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHOD3 HGNC FICD 11153 genome.wustl.edu 37 12 108912198 108912198 + Missense_Mutation SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 12 108912198 108912198 C A SNP FICD ENST00000552695 human ensembl 70_37 +1 known missense c.323 p.A108D 0.999 pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_Fido,superfamily_Fido,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FICD HGNC FLG 2312 genome.wustl.edu 37 1 152284693 152284693 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 152284693 152284693 C T SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.2669 p.R890K 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC FLG 2312 genome.wustl.edu 37 1 152284693 152284693 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 152284693 152284693 C T SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.2669 p.R890K 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC FRAS1 80144 genome.wustl.edu 37 4 79396683 79396683 + Nonsense_Mutation SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 4 79396683 79396683 G T SNP FRAS1 ENST00000264895 human ensembl 70_37 +1 known nonsense c.7774 p.E2592* 0.744 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC FTX 100302692 genome.wustl.edu 37 X 73511847 73511847 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d X 73511847 73511847 C T SNP FTX ENST00000455395 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FTX HGNC GALNS 2588 genome.wustl.edu 37 16 88891256 88891256 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 88891256 88891256 G A SNP GALNS ENST00000268695 human ensembl 70_37 -1 known silent c.1161 p.G387 0.998 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors GALNS HGNC GALNS 2588 genome.wustl.edu 37 16 88891256 88891256 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 88891256 88891256 G A SNP GALNS ENST00000268695 human ensembl 70_37 -1 known silent c.1161 p.G387 0.998 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors GALNS HGNC GALNT5 11227 genome.wustl.edu 37 2 158142597 158142597 + Missense_Mutation SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 2 158142597 158142597 G C SNP GALNT5 ENST00000259056 human ensembl 70_37 +1 known missense c.1692 p.E564D 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 GALNT5 HGNC GALNT5 11227 genome.wustl.edu 37 2 158142597 158142597 + Missense_Mutation SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 2 158142597 158142597 G C SNP GALNT5 ENST00000259056 human ensembl 70_37 +1 known missense c.1692 p.E564D 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 GALNT5 HGNC GLI2 2736 genome.wustl.edu 37 2 121747944 121747944 + Missense_Mutation SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 2 121747944 121747944 C A SNP GLI2 ENST00000361492 human ensembl 70_37 +1 known missense c.4454 p.P1485H 0.933 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC GLT8D2 83468 genome.wustl.edu 37 12 104397008 104397008 + Frame_Shift_Del DEL A A - TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 12 104397008 104397008 A - DEL GLT8D2 ENST00000360814 human ensembl 70_37 -1 known frame_shift_del c.189 p.A64fs 0.027 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GLT8D2 HGNC GNRH2 2797 genome.wustl.edu 37 20 3025090 3025090 + Silent SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 20 3025090 3025090 C G SNP GNRH2 ENST00000245983 human ensembl 70_37 +1 known silent c.30 p.L10 0.004 NULL pfam_GnRH - no_errors GNRH2 HGNC GNRH2 2797 genome.wustl.edu 37 20 3025090 3025090 + Silent SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 20 3025090 3025090 C G SNP GNRH2 ENST00000245983 human ensembl 70_37 +1 known silent c.30 p.L10 0.004 NULL pfam_GnRH - no_errors GNRH2 HGNC GPT2 84706 genome.wustl.edu 37 16 46958347 46958347 + Missense_Mutation SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 46958347 46958347 C G SNP GPT2 ENST00000340124 human ensembl 70_37 +1 known missense c.1259 p.T420R 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors GPT2 HGNC GPT2 84706 genome.wustl.edu 37 16 46958347 46958347 + Missense_Mutation SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 46958347 46958347 C G SNP GPT2 ENST00000340124 human ensembl 70_37 +1 known missense c.1259 p.T420R 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors GPT2 HGNC HCN4 10021 genome.wustl.edu 37 15 73616100 73616100 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 15 73616100 73616100 G A SNP HCN4 ENST00000261917 human ensembl 70_37 -1 known silent c.2334 p.I778 0.997 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN4 HGNC HCN4 10021 genome.wustl.edu 37 15 73616100 73616100 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 15 73616100 73616100 G A SNP HCN4 ENST00000261917 human ensembl 70_37 -1 known silent c.2334 p.I778 0.997 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN4 HGNC MROH7 374977 genome.wustl.edu 37 1 55163338 55163338 + Nonsense_Mutation SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 55163338 55163338 G T SNP HEATR8 ENST00000339553 human ensembl 70_37 +1 known nonsense c.2977 p.E993* 0.003 NULL superfamily_ARM-type_fold - no_errors HEATR8 HGNC HID1 283987 genome.wustl.edu 37 17 72963925 72963925 + RNA SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 17 72963925 72963925 G C SNP HID1 ENST00000579818 human ensembl 70_37 -1 known rna NULL NULL 0.076 - - - no_errors HID1 HGNC HLA-DRB1 3123 genome.wustl.edu 37 6 32549588 32549588 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 6 32549588 32549588 G A SNP HLA-DRB1 ENST00000360004 human ensembl 70_37 -1 known missense c.398 p.S133L 0.267 pfam_Ig_C1-set,pfscan_Ig-like pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DRB1 HGNC HMGN5 79366 genome.wustl.edu 37 X 80377176 80377176 + RNA DEL A A - TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d X 80377176 80377176 A - DEL HMGN5 ENST00000491275 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors HMGN5 HGNC HNRNPL 3191 genome.wustl.edu 37 19 39330948 39330948 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 39330948 39330948 C T SNP HNRNPL ENST00000221419 human ensembl 70_37 -1 known missense c.1021 p.E341K 1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRNPL HGNC HNRNPR 10236 genome.wustl.edu 37 1 23634678 23634678 + RNA SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 23634678 23634678 G A SNP HNRNPR ENST00000478691 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors HNRNPR HGNC HSD17B11 51170 genome.wustl.edu 37 4 88312251 88312252 + RNA INS - - T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 4 88312251 88312252 - T INS HSD17B11 ENST00000508413 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors HSD17B11 HGNC HSD17B12 51144 genome.wustl.edu 37 11 43694603 43694603 + RNA SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 11 43694603 43694603 G A SNP HSD17B12 ENST00000526615 human ensembl 70_37 +1 known rna NULL NULL 0.933 - - - no_errors HSD17B12 HGNC HSF1 3297 genome.wustl.edu 37 8 145515503 145515503 + Silent SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 8 145515503 145515503 C T SNP HSF1 ENST00000528838 human ensembl 70_37 +1 known silent c.64 p.L22 1.000 pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd pfam_Vert_HS_TF,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF1 HGNC IGSF11 152404 genome.wustl.edu 37 3 118647512 118647512 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 118647512 118647512 C T SNP IGSF11 ENST00000393775 human ensembl 70_37 -1 known missense c.268 p.G90S 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors IGSF11 HGNC IGSF11 152404 genome.wustl.edu 37 3 118647512 118647512 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 118647512 118647512 C T SNP IGSF11 ENST00000393775 human ensembl 70_37 -1 known missense c.268 p.G90S 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors IGSF11 HGNC IGSF9B 22997 genome.wustl.edu 37 11 133791120 133791120 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 11 133791120 133791120 C T SNP IGSF9B ENST00000321016 human ensembl 70_37 -1 known missense c.2500 p.V834M 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,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 IGSF9B HGNC IGSF9B 22997 genome.wustl.edu 37 11 133791120 133791120 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 11 133791120 133791120 C T SNP IGSF9B ENST00000321016 human ensembl 70_37 -1 known missense c.2500 p.V834M 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,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 IGSF9B HGNC IL2RA 3559 genome.wustl.edu 37 10 6060063 6060063 + Silent SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 10 6060063 6060063 C A SNP IL2RA ENST00000379959 human ensembl 70_37 -1 known silent c.747 p.L249 0.881 NULL pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors IL2RA HGNC INHBA 3624 genome.wustl.edu 37 7 41731656 41731656 + RNA SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 7 41731656 41731656 C G SNP INHBA ENST00000464515 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors INHBA HGNC IPCEF1 26034 genome.wustl.edu 37 6 154567853 154567853 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 6 154567853 154567853 G A SNP IPCEF1 ENST00000367220 human ensembl 70_37 -1 known silent c.118 p.L40 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors IPCEF1 HGNC IPCEF1 26034 genome.wustl.edu 37 6 154567853 154567853 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 6 154567853 154567853 G A SNP IPCEF1 ENST00000367220 human ensembl 70_37 -1 known silent c.118 p.L40 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors IPCEF1 HGNC KALRN 8997 genome.wustl.edu 37 3 124215190 124215190 + Missense_Mutation SNP A A G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 124215190 124215190 A G SNP KALRN ENST00000360013 human ensembl 70_37 +1 known missense c.4859 p.D1620G 1.000 NULL pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors KALRN HGNC KALRN 8997 genome.wustl.edu 37 3 124215190 124215190 + Missense_Mutation SNP A A G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 124215190 124215190 A G SNP KALRN ENST00000360013 human ensembl 70_37 +1 known missense c.4859 p.D1620G 1.000 NULL pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors KALRN HGNC KIF2A 3796 genome.wustl.edu 37 5 61668279 61668279 + Missense_Mutation SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 5 61668279 61668279 G T SNP KIF2A ENST00000407818 human ensembl 70_37 +1 known missense c.1661 p.G554V 1.000 smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2A HGNC KIF7 374654 genome.wustl.edu 37 15 90171693 90171693 + Missense_Mutation SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 15 90171693 90171693 C G SNP KIF7 ENST00000394412 human ensembl 70_37 -1 known missense c.3989 p.R1330P 0.683 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC KIF7 374654 genome.wustl.edu 37 15 90171693 90171693 + Missense_Mutation SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 15 90171693 90171693 C G SNP KIF7 ENST00000394412 human ensembl 70_37 -1 known missense c.3989 p.R1330P 0.683 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC KLHL1 57626 genome.wustl.edu 37 13 70371050 70371050 + Missense_Mutation SNP T T A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 13 70371050 70371050 T A SNP KLHL1 ENST00000377844 human ensembl 70_37 -1 known missense c.1459 p.I487F 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC KLHL1 57626 genome.wustl.edu 37 13 70371050 70371050 + Missense_Mutation SNP T T A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 13 70371050 70371050 T A SNP KLHL1 ENST00000377844 human ensembl 70_37 -1 known missense c.1459 p.I487F 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC KRI1 65095 genome.wustl.edu 37 19 10676487 10676488 + In_Frame_Ins INS - - CCC TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 10676487 10676488 - CCC INS KRI1 ENST00000361821 human ensembl 70_37 -1 putative in_frame_ins c.80_79 p.27in_frame_insG 0.000:0.000 NULL pfam_KRR1-interact_protein_1 - no_errors KRI1 HGNC LINC00229 414351 genome.wustl.edu 37 22 45002824 45002824 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 22 45002824 45002824 C T SNP LINC00229 ENST00000443783 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00229 HGNC LINC00442 348021 genome.wustl.edu 37 13 19582837 19582837 + RNA SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 13 19582837 19582837 C A SNP LINC00442 ENST00000428086 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors LINC00442 HGNC LINC00472 79940 genome.wustl.edu 37 6 72054063 72054063 + RNA SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 6 72054063 72054063 C G SNP LINC00472 ENST00000413945 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors LINC00472 HGNC LINC00516 0 genome.wustl.edu 37 14 19904366 19904366 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 14 19904366 19904366 C T SNP LINC00516 ENST00000549877 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors LINC00516 HGNC LOC100507419 100507419 genome.wustl.edu 37 16 3107516 3107516 + RNA SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 3107516 3107516 C A SNP LOC100507419 ENST00000573953 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-473M20.7 Clone_based_vega_gene LOC100507564 100507564 genome.wustl.edu 37 1 53708227 53708227 + RNA SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 53708227 53708227 G C SNP LOC100507564 ENST00000458151 human ensembl 70_37 +1 putative rna NULL NULL 0.004 - - - no_errors RP5-1024G6.5 Clone_based_vega_gene LOC286083 286083 genome.wustl.edu 37 8 1250741 1250741 + RNA SNP T T C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 8 1250741 1250741 T C SNP LOC286083 ENST00000521186 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors CTD-2281E23.1 Clone_based_vega_gene LOC339192 339192 genome.wustl.edu 37 17 43295625 43295625 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 17 43295625 43295625 C T SNP LOC339192 ENST00000585471 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors CTD-2020K17.1 Clone_based_vega_gene LOC440288 440288 genome.wustl.edu 37 15 74753949 74753949 + RNA SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 15 74753949 74753949 C G SNP LOC440288 ENST00000499217 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-10O17.2 Clone_based_vega_gene LOC440288 440288 genome.wustl.edu 37 15 74758431 74758431 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 15 74758431 74758431 C T SNP LOC440288 ENST00000499217 human ensembl 70_37 +1 known rna NULL NULL 0.022 - - - no_errors RP11-10O17.2 Clone_based_vega_gene LPHN2 23266 genome.wustl.edu 37 1 82433881 82433881 + Missense_Mutation SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 82433881 82433881 G T SNP LPHN2 ENST00000370717 human ensembl 70_37 +1 known missense c.2509 p.A837S 1.000 NULL pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN2 HGNC LRRC18 474354 genome.wustl.edu 37 10 50121493 50121493 + Silent SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 10 50121493 50121493 G T SNP LRRC18 ENST00000374160 human ensembl 70_37 -1 known silent c.708 p.I236 0.142 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC18 HGNC LRRC4C 57689 genome.wustl.edu 37 11 40136938 40136938 + Missense_Mutation SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 11 40136938 40136938 G T SNP LRRC4C ENST00000527150 human ensembl 70_37 -1 known missense c.905 p.P302H 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors LRRC4C HGNC LRRC53 100144878 genome.wustl.edu 37 1 74936335 74936335 + Nonsense_Mutation SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 74936335 74936335 C A SNP LRRC53 ENST00000294635 human ensembl 70_37 -1 known nonsense c.2971 p.E991* 0.005 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC53 HGNC MAGI1-IT1 151877 genome.wustl.edu 37 3 65859283 65859283 + RNA SNP A A C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 65859283 65859283 A C SNP MAGI1-IT1 ENST00000460754 human ensembl 70_37 -1 known rna NULL NULL 0.035 - - - no_errors MAGI1-IT1 HGNC MAP1B 4131 genome.wustl.edu 37 5 71493006 71493006 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 5 71493006 71493006 G A SNP MAP1B ENST00000296755 human ensembl 70_37 +1 known missense c.3824 p.R1275H 0.999 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC MAP1B 4131 genome.wustl.edu 37 5 71493006 71493006 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 5 71493006 71493006 G A SNP MAP1B ENST00000296755 human ensembl 70_37 +1 known missense c.3824 p.R1275H 0.999 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC MFSD12 126321 genome.wustl.edu 37 19 3550984 3550984 + Silent SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 3550984 3550984 G T SNP MFSD12 ENST00000398558 human ensembl 70_37 -1 known silent c.507 p.L169 1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD12 HGNC MIR296 407022 genome.wustl.edu 37 20 57392249 57392249 + RNA SNP A A G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 20 57392249 57392249 A G SNP MIR296 ENST00000596276 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors hsa-mir-296 miRBase MMEL1 79258 genome.wustl.edu 37 1 2538416 2538416 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 2538416 2538416 C T SNP MMEL1 ENST00000378412 human ensembl 70_37 -1 known missense c.628 p.V210I 0.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MMEL1 HGNC MMEL1 79258 genome.wustl.edu 37 1 2538416 2538416 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 2538416 2538416 C T SNP MMEL1 ENST00000378412 human ensembl 70_37 -1 known missense c.628 p.V210I 0.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MMEL1 HGNC MZT2B 80097 genome.wustl.edu 37 2 130939993 130939993 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 2 130939993 130939993 G A SNP MZT2B ENST00000281871 human ensembl 70_37 +1 known silent c.138 p.A46 0.931 NULL NULL - no_errors MZT2B HGNC HAND2-AS1 79804 genome.wustl.edu 37 4 174506151 174506151 + RNA SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 4 174506151 174506151 C A SNP NBLA00301 ENST00000503474 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-471J12.1 Clone_based_vega_gene NEK6 10783 genome.wustl.edu 37 9 127076209 127076209 + Missense_Mutation SNP A A T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 9 127076209 127076209 A T SNP NEK6 ENST00000373600 human ensembl 70_37 +1 known missense c.341 p.E114V 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK6 HGNC NEK6 10783 genome.wustl.edu 37 9 127076209 127076209 + Missense_Mutation SNP A A T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 9 127076209 127076209 A T SNP NEK6 ENST00000373600 human ensembl 70_37 +1 known missense c.341 p.E114V 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK6 HGNC NIPSNAP3B 55335 genome.wustl.edu 37 9 107531250 107531250 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 9 107531250 107531250 G A SNP NIPSNAP3B ENST00000374762 human ensembl 70_37 +1 known silent c.378 p.T126 0.000 pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel - no_errors NIPSNAP3B HGNC NIPSNAP3B 55335 genome.wustl.edu 37 9 107531250 107531250 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 9 107531250 107531250 G A SNP NIPSNAP3B ENST00000374762 human ensembl 70_37 +1 known silent c.378 p.T126 0.000 pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel - no_errors NIPSNAP3B HGNC NRG1 3084 genome.wustl.edu 37 8 32606549 32606549 + RNA SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 8 32606549 32606549 C A SNP NRG1 ENST00000523681 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NRG1 HGNC NT5DC2 64943 genome.wustl.edu 37 3 52568558 52568558 + Missense_Mutation SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 52568558 52568558 C G SNP NT5DC2 ENST00000307076 human ensembl 70_37 -1 known missense c.112 p.E38Q 0.000 pirsf_Pur_nucleotidase pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5DC2 HGNC NT5DC2 64943 genome.wustl.edu 37 3 52568558 52568558 + Missense_Mutation SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 52568558 52568558 C G SNP NT5DC2 ENST00000307076 human ensembl 70_37 -1 known missense c.112 p.E38Q 0.000 pirsf_Pur_nucleotidase pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5DC2 HGNC NUFIP1 26747 genome.wustl.edu 37 13 45563518 45563518 + Silent SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 13 45563518 45563518 G T SNP NUFIP1 ENST00000379161 human ensembl 70_37 -1 known silent c.54 p.P18 0.001 NULL pfam_NUFIP1_cons_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors NUFIP1 HGNC OR2L3 391192 genome.wustl.edu 37 1 248224828 248224828 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 248224828 248224828 C T SNP OR2L3 ENST00000359959 human ensembl 70_37 +1 known missense c.845 p.P282L 0.989 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L3 HGNC OR2L3 391192 genome.wustl.edu 37 1 248224828 248224828 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 248224828 248224828 C T SNP OR2L3 ENST00000359959 human ensembl 70_37 +1 known missense c.845 p.P282L 0.989 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L3 HGNC PCSK5 5125 genome.wustl.edu 37 9 78911765 78911765 + Missense_Mutation SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 9 78911765 78911765 G T SNP PCSK5 ENST00000545128 human ensembl 70_37 +1 known missense c.3507 p.E1169D 0.430 NULL pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC PER3 8863 genome.wustl.edu 37 1 7880694 7880694 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 7880694 7880694 G A SNP PER3 ENST00000361923 human ensembl 70_37 +1 known missense c.1927 p.E643K 0.920 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS - no_errors PER3 HGNC PHLDA3 23612 genome.wustl.edu 37 1 201435540 201435540 + RNA SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 201435540 201435540 C G SNP PHLDA3 ENST00000497057 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors PHLDA3 HGNC PI4KAP1 728233 genome.wustl.edu 37 22 20402341 20402341 + RNA SNP A A G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 22 20402341 20402341 A G SNP PI4KAP1 ENST00000416922 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PI4KAP1 HGNC PLEKHG5 57449 genome.wustl.edu 37 1 6534167 6534167 + Missense_Mutation SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 6534167 6534167 G T SNP PLEKHG5 ENST00000537245 human ensembl 70_37 -1 known missense c.734 p.S245Y 0.993 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG5 HGNC PLIN4 729359 genome.wustl.edu 37 19 4511479 4511479 + Silent SNP A A T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 4511479 4511479 A T SNP PLIN4 ENST00000301286 human ensembl 70_37 -1 novel silent c.2451 p.T817 0.000 NULL pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC POLR3B 55703 genome.wustl.edu 37 12 106820975 106820975 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 12 106820975 106820975 C T SNP POLR3B ENST00000228347 human ensembl 70_37 +1 known missense c.1102 p.L368F 1.000 pfam_RNA_pol_bsu_protrusion pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5 - no_errors POLR3B HGNC POLR3F 10621 genome.wustl.edu 37 20 18455810 18455810 + Missense_Mutation SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 20 18455810 18455810 C G SNP POLR3F ENST00000377603 human ensembl 70_37 +1 known missense c.408 p.I136M 0.994 pfam_RNA_pol_Rpc34,pirsf_RNA_pol_Rpc34 pfam_RNA_pol_Rpc34,pirsf_RNA_pol_Rpc34 - no_errors POLR3F HGNC POLR3F 10621 genome.wustl.edu 37 20 18455810 18455810 + Missense_Mutation SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 20 18455810 18455810 C G SNP POLR3F ENST00000377603 human ensembl 70_37 +1 known missense c.408 p.I136M 0.994 pfam_RNA_pol_Rpc34,pirsf_RNA_pol_Rpc34 pfam_RNA_pol_Rpc34,pirsf_RNA_pol_Rpc34 - no_errors POLR3F HGNC POM121 9883 genome.wustl.edu 37 7 72413868 72413868 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 7 72413868 72413868 G A SNP POM121 ENST00000434423 human ensembl 70_37 +1 known silent c.3336 p.G1112 0.823 NULL NULL - no_errors POM121 HGNC POM121 9883 genome.wustl.edu 37 7 72413868 72413868 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 7 72413868 72413868 G A SNP POM121 ENST00000434423 human ensembl 70_37 +1 known silent c.3336 p.G1112 0.823 NULL NULL - no_errors POM121 HGNC PPFIA3 8541 genome.wustl.edu 37 19 49652821 49652821 + Silent SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 49652821 49652821 C T SNP PPFIA3 ENST00000334186 human ensembl 70_37 +1 known silent c.3372 p.F1124 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC PPFIA3 8541 genome.wustl.edu 37 19 49652821 49652821 + Silent SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 49652821 49652821 C T SNP PPFIA3 ENST00000334186 human ensembl 70_37 +1 known silent c.3372 p.F1124 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC PPM1E 22843 genome.wustl.edu 37 17 56833491 56833491 + Missense_Mutation SNP T T C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 17 56833491 56833491 T C SNP PPM1E ENST00000308249 human ensembl 70_37 +1 known missense c.133 p.S45P 0.787 NULL pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1E HGNC PTH2 113091 genome.wustl.edu 37 19 49926559 49926559 + Missense_Mutation SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 49926559 49926559 C A SNP PTH2 ENST00000270631 human ensembl 70_37 -1 known missense c.38 p.R13L 0.979 NULL NULL - no_errors PTH2 HGNC RAF1 5894 genome.wustl.edu 37 3 12660149 12660149 + Silent SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 12660149 12660149 G C SNP RAF1 ENST00000442415 human ensembl 70_37 -1 known silent c.72 p.G24 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors RAF1 HGNC RAF1 5894 genome.wustl.edu 37 3 12660149 12660149 + Silent SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 12660149 12660149 G C SNP RAF1 ENST00000442415 human ensembl 70_37 -1 known silent c.72 p.G24 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors RAF1 HGNC RAI1 10743 genome.wustl.edu 37 17 17696863 17696863 + Missense_Mutation SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 17 17696863 17696863 C G SNP RAI1 ENST00000353383 human ensembl 70_37 +1 known missense c.601 p.L201V 0.861 NULL smart_Znf_PHD - no_errors RAI1 HGNC RAI1 10743 genome.wustl.edu 37 17 17696863 17696863 + Missense_Mutation SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 17 17696863 17696863 C G SNP RAI1 ENST00000353383 human ensembl 70_37 +1 known missense c.601 p.L201V 0.861 NULL smart_Znf_PHD - no_errors RAI1 HGNC RAPGEF2 9693 genome.wustl.edu 37 4 160266410 160266410 + Missense_Mutation SNP A A G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 4 160266410 160266410 A G SNP RAPGEF2 ENST00000264431 human ensembl 70_37 +1 known missense c.2948 p.N983S 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,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 RAPGEF2 HGNC RAPGEF2 9693 genome.wustl.edu 37 4 160266410 160266410 + Missense_Mutation SNP A A G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 4 160266410 160266410 A G SNP RAPGEF2 ENST00000264431 human ensembl 70_37 +1 known missense c.2948 p.N983S 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,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 RAPGEF2 HGNC RHOBTB3 22836 genome.wustl.edu 37 5 95067758 95067758 + Silent SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 5 95067758 95067758 C G SNP RHOBTB3 ENST00000379982 human ensembl 70_37 +1 known silent c.198 p.V66 1.000 NULL pfam_BTB_POZ,pfam_Small_GTPase,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors RHOBTB3 HGNC RHOBTB3 22836 genome.wustl.edu 37 5 95067758 95067758 + Silent SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 5 95067758 95067758 C G SNP RHOBTB3 ENST00000379982 human ensembl 70_37 +1 known silent c.198 p.V66 1.000 NULL pfam_BTB_POZ,pfam_Small_GTPase,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors RHOBTB3 HGNC RIN2 54453 genome.wustl.edu 37 20 19916187 19916187 + RNA SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 20 19916187 19916187 G A SNP RIN2 ENST00000467569 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RIN2 HGNC RNASET2 8635 genome.wustl.edu 37 6 167347552 167347552 + RNA SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 6 167347552 167347552 G C SNP RNASET2 ENST00000509073 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RNASET2 HGNC RNASET2 8635 genome.wustl.edu 37 6 167347552 167347552 + RNA SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 6 167347552 167347552 G C SNP RNASET2 ENST00000509073 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RNASET2 HGNC RP1L1 94137 genome.wustl.edu 37 8 10466019 10466019 + Silent SNP A A T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 8 10466019 10466019 A T SNP RP1L1 ENST00000382483 human ensembl 70_37 -1 known silent c.5589 p.A1863 0.000 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC RXRA 6256 genome.wustl.edu 37 9 137330789 137330789 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 9 137330789 137330789 C T SNP RXRA ENST00000356384 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RXRA HGNC SDHAP1 255812 genome.wustl.edu 37 3 195692347 195692347 + RNA SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 195692347 195692347 G A SNP SDHAP1 ENST00000354559 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SDHAP1 HGNC SEC14L3 266629 genome.wustl.edu 37 22 30867221 30867221 + Nonsense_Mutation SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 22 30867221 30867221 G C SNP SEC14L3 ENST00000434642 human ensembl 70_37 -1 known nonsense c.98 p.S33* 0.006 NULL NULL - no_errors SEC14L3 HGNC SFXN2 118980 genome.wustl.edu 37 10 104492659 104492659 + Silent SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 10 104492659 104492659 C T SNP SFXN2 ENST00000369893 human ensembl 70_37 +1 known silent c.765 p.F255 1.000 pfam_Mtc,tigrfam_Mtc pfam_Mtc,tigrfam_Mtc - no_errors SFXN2 HGNC SFXN2 118980 genome.wustl.edu 37 10 104492659 104492659 + Silent SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 10 104492659 104492659 C T SNP SFXN2 ENST00000369893 human ensembl 70_37 +1 known silent c.765 p.F255 1.000 pfam_Mtc,tigrfam_Mtc pfam_Mtc,tigrfam_Mtc - no_errors SFXN2 HGNC SH2B1 25970 genome.wustl.edu 37 16 28884923 28884923 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 28884923 28884923 G A SNP SH2B1 ENST00000322610 human ensembl 70_37 +1 known missense c.2053 p.G685S 0.985 NULL pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2B1 HGNC SIGLEC10 89790 genome.wustl.edu 37 19 51918103 51918103 + Missense_Mutation SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 51918103 51918103 C G SNP SIGLEC10 ENST00000339313 human ensembl 70_37 -1 known missense c.1590 p.Q530H 0.637 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC10 HGNC SIGLEC10 89790 genome.wustl.edu 37 19 51918103 51918103 + Missense_Mutation SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 51918103 51918103 C G SNP SIGLEC10 ENST00000339313 human ensembl 70_37 -1 known missense c.1590 p.Q530H 0.637 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC10 HGNC SIGLEC11 114132 genome.wustl.edu 37 19 50462671 50462671 + Missense_Mutation SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 50462671 50462671 G C SNP SIGLEC11 ENST00000447370 human ensembl 70_37 -1 known missense c.1003 p.R335G 0.974 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC11 HGNC SLC22A15 55356 genome.wustl.edu 37 1 116534855 116534855 + Silent SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 116534855 116534855 C T SNP SLC22A15 ENST00000369503 human ensembl 70_37 +1 known silent c.291 p.I97 0.940 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A15 HGNC SLC26A6 65010 genome.wustl.edu 37 3 48670795 48670795 + Missense_Mutation SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 3 48670795 48670795 G T SNP SLC26A6 ENST00000395550 human ensembl 70_37 -1 known missense c.211 p.L71M 0.698 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A6 HGNC SLC35A4 113829 genome.wustl.edu 37 5 139946203 139946203 + RNA SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 5 139946203 139946203 G A SNP SLC35A4 ENST00000508770 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SLC35A4 HGNC SMARCA4 6597 genome.wustl.edu 37 19 11134251 11134251 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 11134251 11134251 C T SNP SMARCA4 ENST00000358026 human ensembl 70_37 +1 known missense c.2917 p.R973W 1.000 pfam_SNF2_N pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA4 HGNC SMARCA4 6597 genome.wustl.edu 37 19 11134251 11134251 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 11134251 11134251 C T SNP SMARCA4 ENST00000358026 human ensembl 70_37 +1 known missense c.2917 p.R973W 1.000 pfam_SNF2_N pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA4 HGNC SMG1 23049 genome.wustl.edu 37 16 18937339 18937339 + Silent SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 18937339 18937339 G T SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known silent c.25 p.R9 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC SMYD5 10322 genome.wustl.edu 37 2 73447240 73447240 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 2 73447240 73447240 G A SNP SMYD5 ENST00000389501 human ensembl 70_37 +1 known silent c.267 p.G89 0.996 pfam_SET_dom,smart_SET_dom pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SMYD5 HGNC SMYD5 10322 genome.wustl.edu 37 2 73447240 73447240 + Silent SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 2 73447240 73447240 G A SNP SMYD5 ENST00000389501 human ensembl 70_37 +1 known silent c.267 p.G89 0.996 pfam_SET_dom,smart_SET_dom pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SMYD5 HGNC SPA17 53340 genome.wustl.edu 37 11 124566298 124566299 + RNA INS - - A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 11 124566298 124566299 - A INS SPA17 ENST00000524614 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors SPA17 HGNC SPATA6L 55064 genome.wustl.edu 37 9 4666556 4666557 + RNA INS - - G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 9 4666556 4666557 - G INS SPATA6L ENST00000498087 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors SPATA6L HGNC SSPO 23145 genome.wustl.edu 37 7 149485713 149485713 + RNA SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 7 149485713 149485713 G A SNP SSPO ENST00000262089 human ensembl 70_37 +1 known rna NULL NULL 0.013 - - - no_errors SSPO HGNC SSPO 23145 genome.wustl.edu 37 7 149488508 149488508 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 7 149488508 149488508 C T SNP SSPO ENST00000262089 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SSPO HGNC STAG3 10734 genome.wustl.edu 37 7 99795228 99795228 + RNA SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 7 99795228 99795228 G T SNP STAG3 ENST00000440830 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors STAG3 HGNC TBXAS1 6916 genome.wustl.edu 37 7 139489299 139489299 + RNA SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 7 139489299 139489299 G T SNP TBXAS1 ENST00000493340 human ensembl 70_37 +1 known rna NULL NULL 0.018 - - - no_errors TBXAS1 HGNC TCEA3 6920 genome.wustl.edu 37 1 23735133 23735133 + RNA SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 23735133 23735133 G T SNP TCEA3 ENST00000374602 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TCEA3 HGNC TCEA3 6920 genome.wustl.edu 37 1 23735133 23735133 + RNA SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 23735133 23735133 G T SNP TCEA3 ENST00000374602 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TCEA3 HGNC THSD4 79875 genome.wustl.edu 37 15 71507659 71507659 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 15 71507659 71507659 G A SNP THSD4 ENST00000261862 human ensembl 70_37 +1 known missense c.385 p.A129T 0.000 pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors THSD4 HGNC TLL1 7092 genome.wustl.edu 37 4 166976380 166976380 + Silent SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 4 166976380 166976380 C T SNP TLL1 ENST00000061240 human ensembl 70_37 +1 known silent c.1677 p.D559 0.954 pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB 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 TLL1 7092 genome.wustl.edu 37 4 166976380 166976380 + Silent SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 4 166976380 166976380 C T SNP TLL1 ENST00000061240 human ensembl 70_37 +1 known silent c.1677 p.D559 0.954 pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB 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 TMCO5B 100652857 genome.wustl.edu 37 15 33528056 33528056 + RNA SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 15 33528056 33528056 G A SNP TMCO5B ENST00000529696 human ensembl 70_37 -1 known rna NULL NULL 0.054 - - - no_errors TMCO5B HGNC TMPO 7112 genome.wustl.edu 37 12 98938002 98938002 + RNA SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 12 98938002 98938002 G C SNP TMPO ENST00000548223 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TMPO HGNC TMPO 7112 genome.wustl.edu 37 12 98938002 98938002 + RNA SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 12 98938002 98938002 G C SNP TMPO ENST00000548223 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TMPO HGNC TRAF3IP1 26146 genome.wustl.edu 37 2 239237349 239237349 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 2 239237349 239237349 G A SNP TRAF3IP1 ENST00000373327 human ensembl 70_37 +1 known missense c.377 p.R126Q 1.000 pfam_Microtubule/TRAF3/DISC1-bd pfam_Microtubule/TRAF3/DISC1-bd - no_errors TRAF3IP1 HGNC TRAF3IP1 26146 genome.wustl.edu 37 2 239237349 239237349 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 2 239237349 239237349 G A SNP TRAF3IP1 ENST00000373327 human ensembl 70_37 +1 known missense c.377 p.R126Q 1.000 pfam_Microtubule/TRAF3/DISC1-bd pfam_Microtubule/TRAF3/DISC1-bd - no_errors TRAF3IP1 HGNC TSC2 7249 genome.wustl.edu 37 16 2115600 2115600 + Silent SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 2115600 2115600 G T SNP TSC2 ENST00000219476 human ensembl 70_37 +1 known silent c.1680 p.V560 1.000 pfam_Tuberin-type_domain,superfamily_ARM-type_fold,prints_Tuberin pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin - no_errors TSC2 HGNC TSC2 7249 genome.wustl.edu 37 16 2115600 2115600 + Silent SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 16 2115600 2115600 G T SNP TSC2 ENST00000219476 human ensembl 70_37 +1 known silent c.1680 p.V560 1.000 pfam_Tuberin-type_domain,superfamily_ARM-type_fold,prints_Tuberin pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin - no_errors TSC2 HGNC TSKS 60385 genome.wustl.edu 37 19 50250006 50250006 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 50250006 50250006 C T SNP TSKS ENST00000246801 human ensembl 70_37 -1 known missense c.713 p.R238Q 0.975 NULL NULL - no_errors TSKS HGNC TTC17 55761 genome.wustl.edu 37 11 43411246 43411246 + Missense_Mutation SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 11 43411246 43411246 C A SNP TTC17 ENST00000039989 human ensembl 70_37 +1 known missense c.294 p.D98E 1.000 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC17 HGNC TUBBP1 92755 genome.wustl.edu 37 8 30209644 30209644 + RNA SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 8 30209644 30209644 G A SNP TUBBP1 ENST00000518096 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBBP1 HGNC TUBBP1 92755 genome.wustl.edu 37 8 30209644 30209644 + RNA SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 8 30209644 30209644 G A SNP TUBBP1 ENST00000518096 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBBP1 HGNC UBL4A 8266 genome.wustl.edu 37 X 153713871 153713871 + RNA SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d X 153713871 153713871 G A SNP UBL4A ENST00000477777 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors UBL4A HGNC UBL4A 8266 genome.wustl.edu 37 X 153713871 153713871 + RNA SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d X 153713871 153713871 G A SNP UBL4A ENST00000477777 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors UBL4A HGNC UBOX5-AS1 100134015 genome.wustl.edu 37 20 3091040 3091040 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 20 3091040 3091040 C T SNP UBOX5-AS1 ENST00000446537 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors UBOX5-AS1 HGNC UBR4 23352 genome.wustl.edu 37 1 19483350 19483350 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 19483350 19483350 G A SNP UBR4 ENST00000375267 human ensembl 70_37 -1 known missense c.5830 p.R1944C 1.000 superfamily_WD40_repeat_dom,superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC UBR4 23352 genome.wustl.edu 37 1 19483350 19483350 + Missense_Mutation SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 1 19483350 19483350 G A SNP UBR4 ENST00000375267 human ensembl 70_37 -1 known missense c.5830 p.R1944C 1.000 superfamily_WD40_repeat_dom,superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC USF2 7392 genome.wustl.edu 37 19 35770409 35770409 + RNA SNP C C G TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 35770409 35770409 C G SNP USF2 ENST00000600341 human ensembl 70_37 +1 known rna NULL NULL 0.834 - - - no_errors USF2 HGNC VPS37A 137492 genome.wustl.edu 37 8 17155656 17155656 + RNA SNP G G A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 8 17155656 17155656 G A SNP VPS37A ENST00000519515 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors VPS37A HGNC ZDHHC21 340481 genome.wustl.edu 37 9 14672836 14672836 + Missense_Mutation SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 9 14672836 14672836 G T SNP ZDHHC21 ENST00000380916 human ensembl 70_37 -1 known missense c.245 p.P82Q 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC21 HGNC ZFAND4 93550 genome.wustl.edu 37 10 46122404 46122404 + Silent SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 10 46122404 46122404 G C SNP ZFAND4 ENST00000344646 human ensembl 70_37 -1 known silent c.867 p.P289 0.852 NULL pfam_Ubiquitin,pfam_Znf_AN1,smart_Ubiquitin,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors ZFAND4 HGNC ZFAND4 93550 genome.wustl.edu 37 10 46122404 46122404 + Silent SNP G G C TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 10 46122404 46122404 G C SNP ZFAND4 ENST00000344646 human ensembl 70_37 -1 known silent c.867 p.P289 0.852 NULL pfam_Ubiquitin,pfam_Znf_AN1,smart_Ubiquitin,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors ZFAND4 HGNC ZFYVE16 9765 genome.wustl.edu 37 5 79706148 79706149 + RNA INS - - A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 5 79706148 79706149 - A INS ZFYVE16 ENST00000512442 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.002 - - - no_errors ZFYVE16 HGNC ZNF12 7559 genome.wustl.edu 37 7 6731192 6731192 + Nonsense_Mutation SNP C C A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 7 6731192 6731192 C A SNP ZNF12 ENST00000405858 human ensembl 70_37 -1 known nonsense c.1381 p.G461* 1.000 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 ZNF12 HGNC ZNF467 168544 genome.wustl.edu 37 7 149462767 149462767 + Missense_Mutation SNP G G T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 7 149462767 149462767 G T SNP ZNF467 ENST00000302017 human ensembl 70_37 -1 known missense c.824 p.T275K 0.031 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF467 HGNC ZNF75D 7626 genome.wustl.edu 37 X 134421467 134421467 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d X 134421467 134421467 C T SNP ZNF75D ENST00000370766 human ensembl 70_37 -1 known missense c.1135 p.D379N 0.001 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 ZNF75D HGNC ZNF75D 7626 genome.wustl.edu 37 X 134421467 134421467 + Missense_Mutation SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d X 134421467 134421467 C T SNP ZNF75D ENST00000370766 human ensembl 70_37 -1 known missense c.1135 p.D379N 0.001 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 ZNF75D HGNC ZNF90 7643 genome.wustl.edu 37 19 20236288 20236288 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 20236288 20236288 C T SNP ZNF90 ENST00000474284 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ZNF90 HGNC ZNF90 7643 genome.wustl.edu 37 19 20236288 20236288 + RNA SNP C C T TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 497c20f0-8a42-4d20-abdc-0415982ebb9f a3d0503b-baac-4f83-9182-be7b4154c61d 19 20236288 20236288 C T SNP ZNF90 ENST00000474284 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ZNF90 HGNC