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 AATK 9625 genome.wustl.edu 37 17 79093812 79093812 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 79093812 79093812 C T SNP AATK ENST00000326724 human ensembl 70_37 -1 known silent c.3807 p.G1269 0.018 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AATK HGNC ADAM22 53616 genome.wustl.edu 37 7 87778331 87778331 + Missense_Mutation SNP G G T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 7 87778331 87778331 G T SNP ADAM22 ENST00000265727 human ensembl 70_37 +1 known missense c.1525 p.D509Y 1.000 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ADAMTS12 81792 genome.wustl.edu 37 5 33588817 33588817 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 5 33588817 33588817 C T SNP ADAMTS12 ENST00000504830 human ensembl 70_37 -1 known missense c.2752 p.E918K 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ADCY7 113 genome.wustl.edu 37 16 50344639 50344639 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 16 50344639 50344639 G A SNP ADCY7 ENST00000254235 human ensembl 70_37 +1 known silent c.2202 p.S734 0.018 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ADD3 120 genome.wustl.edu 37 10 111877134 111877134 + Missense_Mutation SNP T T A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 10 111877134 111877134 T A SNP ADD3 ENST00000356080 human ensembl 70_37 +1 known missense c.521 p.I174K 1.000 pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC AHCYL1 10768 genome.wustl.edu 37 1 110559006 110559006 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 110559006 110559006 G A SNP AHCYL1 ENST00000369799 human ensembl 70_37 +1 known missense c.823 p.A275T 1.000 pfam_Adenosylhomocysteinase,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase - no_errors AHCYL1 HGNC AKAP13 11214 genome.wustl.edu 37 15 86286834 86286834 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 15 86286834 86286834 G A SNP AKAP13 ENST00000361243 human ensembl 70_37 +1 known missense c.8182 p.E2728K 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC AKNAD1 254268 genome.wustl.edu 37 1 109365884 109365884 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 109365884 109365884 G A SNP AKNAD1 ENST00000369995 human ensembl 70_37 -1 known missense c.2177 p.S726F 0.000 NULL pfam_TF_AT-hook - no_errors AKNAD1 HGNC ALDOB 229 genome.wustl.edu 37 9 104187132 104187132 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 9 104187132 104187132 C T SNP ALDOB ENST00000374855 human ensembl 70_37 -1 known missense c.992 p.R331Q 1.000 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOB HGNC ALOX12 239 genome.wustl.edu 37 17 6909857 6909857 + Missense_Mutation SNP G G T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 6909857 6909857 G T SNP ALOX12 ENST00000251535 human ensembl 70_37 +1 known missense c.1471 p.G491W 0.733 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX12 HGNC ANKFN1 162282 genome.wustl.edu 37 17 54588280 54588280 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 54588280 54588280 G A SNP ANKFN1 ENST00000566473 human ensembl 70_37 +1 novel missense c.3100 p.E1034K 0.976 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3 - no_errors ANKFN1 HGNC ANKRD28 23243 genome.wustl.edu 37 3 15838150 15838151 + RNA INS - - TT TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 3 15838150 15838151 - TT INS ANKRD28 ENST00000461696 human ensembl 70_37 -1 known rna NULL NULL 0.016:0.428 - - - no_errors ANKRD28 HGNC ANKRD31 256006 genome.wustl.edu 37 5 74433799 74433799 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 5 74433799 74433799 G C SNP ANKRD31 ENST00000274361 human ensembl 70_37 -1 known missense c.3587 p.S1196C 0.091 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD31 HGNC ANKRD52 283373 genome.wustl.edu 37 12 56641847 56641847 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 12 56641847 56641847 G A SNP ANKRD52 ENST00000267116 human ensembl 70_37 -1 known silent c.1938 p.I646 1.000 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 ANKRD52 HGNC ANKS1A 23294 genome.wustl.edu 37 6 34951182 34951182 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 34951182 34951182 C G SNP ANKS1A ENST00000360359 human ensembl 70_37 +1 known missense c.992 p.S331C 0.757 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1A HGNC APPL2 55198 genome.wustl.edu 37 12 105591668 105591668 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 12 105591668 105591668 G A SNP APPL2 ENST00000551662 human ensembl 70_37 -1 known silent c.945 p.L315 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PTyr_interaction_dom,pfam_Pleckstrin_homology,pfam_PTB,smart_Pleckstrin_homology,smart_PTyr_interaction_dom,pfscan_Pleckstrin_homology,pfscan_PTyr_interaction_dom - no_errors APPL2 HGNC ARF5 381 genome.wustl.edu 37 7 127228576 127228576 + Silent SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 7 127228576 127228576 C G SNP ARF5 ENST00000000233 human ensembl 70_37 +1 known silent c.24 p.L8 1.000 pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARF5 HGNC ATF6B 1388 genome.wustl.edu 37 6 32083736 32083736 + Nonsense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 32083736 32083736 G C SNP ATF6B ENST00000375203 human ensembl 70_37 -1 known nonsense c.1892 p.S631* 1.000 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF6B HGNC ATG5 9474 genome.wustl.edu 37 6 106650034 106650034 + RNA SNP C C A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 106650034 106650034 C A SNP ATG5 ENST00000475645 human ensembl 70_37 -1 known rna NULL NULL 0.463 - - - no_errors ATG5 HGNC ATG9B 285973 genome.wustl.edu 37 7 150717312 150717312 + RNA SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 7 150717312 150717312 G A SNP ATG9B ENST00000473409 human ensembl 70_37 -1 known rna NULL NULL 0.039 - - - no_errors ATG9B HGNC ATP6V0E2-AS1 401431 genome.wustl.edu 37 7 149570599 149570599 + RNA SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 7 149570599 149570599 G A SNP ATP6V0E2-AS1 ENST00000461019 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ATP6V0E2-AS1 HGNC ATP8B4 79895 genome.wustl.edu 37 15 50273469 50273469 + Missense_Mutation SNP C C A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 15 50273469 50273469 C A SNP ATP8B4 ENST00000284509 human ensembl 70_37 -1 known missense c.771 p.Q257H 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B4 HGNC AURKAIP1 54998 genome.wustl.edu 37 1 1309975 1309975 + RNA SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 1309975 1309975 G A SNP AURKAIP1 ENST00000489799 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors AURKAIP1 HGNC BAI3 577 genome.wustl.edu 37 6 69666033 69666033 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 69666033 69666033 G A SNP BAI3 ENST00000370598 human ensembl 70_37 +1 known missense c.1313 p.R438K 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC BAZ1B 9031 genome.wustl.edu 37 7 72884732 72884732 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 7 72884732 72884732 G A SNP BAZ1B ENST00000339594 human ensembl 70_37 -1 known missense c.2675 p.A892V 1.000 superfamily_ARM-type_fold pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC BMS1P4 729096 genome.wustl.edu 37 10 75481142 75481142 + RNA SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 10 75481142 75481142 G A SNP BMS1P4 ENST00000399449 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-464F9.1 Clone_based_vega_gene BTAF1 9044 genome.wustl.edu 37 10 93699793 93699793 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 10 93699793 93699793 G A SNP BTAF1 ENST00000265990 human ensembl 70_37 +1 known missense c.223 p.E75K 1.000 superfamily_ARM-type_fold pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors BTAF1 HGNC BTBD1 53339 genome.wustl.edu 37 15 83735727 83735727 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 15 83735727 83735727 G A SNP BTBD1 ENST00000261721 human ensembl 70_37 -1 known silent c.177 p.F59 1.000 superfamily_BTB/POZ_fold pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD1 HGNC C10orf126 283080 genome.wustl.edu 37 10 29162208 29162208 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 10 29162208 29162208 G C SNP C10orf126 ENST00000375520 human ensembl 70_37 +1 known missense c.198 p.W66C 0.119 NULL NULL - no_errors C10orf126 HGNC C11orf39 100507450 genome.wustl.edu 37 11 131530307 131530307 + RNA SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 11 131530307 131530307 G A SNP C11orf39 ENST00000536853 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C11orf39 HGNC C1orf123 54987 genome.wustl.edu 37 1 53686187 53686187 + RNA SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 53686187 53686187 C T SNP C1orf123 ENST00000470385 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf123 HGNC TMEM51-AS1 200197 genome.wustl.edu 37 1 15445259 15445259 + RNA SNP G G T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 15445259 15445259 G T SNP C1orf126 ENST00000310916 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors C1orf126 HGNC C1orf131 128061 genome.wustl.edu 37 1 231376871 231376871 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 231376871 231376871 G A SNP C1orf131 ENST00000366649 human ensembl 70_37 -1 known missense c.17 p.S6L 0.001 NULL NULL - no_errors C1orf131 HGNC C5orf42 65250 genome.wustl.edu 37 5 37226650 37226650 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 5 37226650 37226650 C G SNP C5orf42 ENST00000425232 human ensembl 70_37 -1 known missense c.2047 p.E683Q 0.963 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC C9orf78 51759 genome.wustl.edu 37 9 132597032 132597032 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 9 132597032 132597032 C T SNP C9orf78 ENST00000372447 human ensembl 70_37 -1 known missense c.97 p.E33K 1.000 NULL pfam_Hep_59 - no_errors C9orf78 HGNC CC2D1B 200014 genome.wustl.edu 37 1 52821305 52821305 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 52821305 52821305 C T SNP CC2D1B ENST00000371586 human ensembl 70_37 -1 known missense c.2180 p.R727Q 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep - no_errors CC2D1B HGNC CCDC14 64770 genome.wustl.edu 37 3 123667908 123667908 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 3 123667908 123667908 C T SNP CCDC14 ENST00000488653 human ensembl 70_37 -1 known missense c.568 p.E190K 0.000 NULL NULL - no_errors CCDC14 HGNC CCDC152 100129792 genome.wustl.edu 37 5 42769698 42769698 + Splice_Site SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 5 42769698 42769698 G A SNP CCDC152 ENST00000361970 human ensembl 70_37 +1 known splice_site c.194-1 e3-1 1.000 - - - no_errors CCDC152 HGNC CCDC77 84318 genome.wustl.edu 37 12 520915 520915 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 12 520915 520915 G A SNP CCDC77 ENST00000239830 human ensembl 70_37 +1 known missense c.41 p.R14Q 0.000 NULL NULL - no_errors CCDC77 HGNC CCHCR1 54535 genome.wustl.edu 37 6 31118560 31118560 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 31118560 31118560 G A SNP CCHCR1 ENST00000396268 human ensembl 70_37 -1 known missense c.1043 p.S348F 0.001 pfam_HCR pfam_HCR - no_errors CCHCR1 HGNC CCZ1B 221960 genome.wustl.edu 37 7 6864357 6864357 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 7 6864357 6864357 C T SNP CCZ1B ENST00000316731 human ensembl 70_37 -1 known silent c.132 p.K44 1.000 pfam_DUF1712_fun pfam_DUF1712_fun - no_errors CCZ1B HGNC CD2BP2 10421 genome.wustl.edu 37 16 30365041 30365041 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 16 30365041 30365041 C T SNP CD2BP2 ENST00000305596 human ensembl 70_37 -1 known missense c.456 p.M152I 0.992 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors CD2BP2 HGNC CD34 947 genome.wustl.edu 37 1 208062063 208062063 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 208062063 208062063 C T SNP CD34 ENST00000310833 human ensembl 70_37 -1 known missense c.936 p.M312I 1.000 pfam_CD34/Podocalyxin,prints_CD34 pfam_CD34/Podocalyxin,prints_CD34 - no_errors CD34 HGNC CD58 965 genome.wustl.edu 37 1 117086981 117086981 + Nonsense_Mutation SNP C C A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 117086981 117086981 C A SNP CD58 ENST00000369489 human ensembl 70_37 -1 known nonsense c.316 p.E106* 0.003 NULL NULL - no_errors CD58 HGNC CDC123 8872 genome.wustl.edu 37 10 12257792 12257792 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 10 12257792 12257792 C T SNP CDC123 ENST00000281141 human ensembl 70_37 +1 known silent c.291 p.L97 0.998 pfam_D123,pirsf_Cell_div_Cdc123 pfam_D123,pirsf_Cell_div_Cdc123 - no_errors CDC123 HGNC CDK5RAP2 55755 genome.wustl.edu 37 9 123169326 123169326 + Missense_Mutation SNP A A G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 9 123169326 123169326 A G SNP CDK5RAP2 ENST00000349780 human ensembl 70_37 -1 known missense c.4927 p.S1643P 0.000 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC CELSR2 1952 genome.wustl.edu 37 1 109792835 109792835 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 109792835 109792835 G A SNP CELSR2 ENST00000271332 human ensembl 70_37 +1 known missense c.134 p.R45Q 0.226 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC CELSR2 1952 genome.wustl.edu 37 1 109816586 109816586 + RNA SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 109816586 109816586 C T SNP CELSR2 ENST00000498157 human ensembl 70_37 +1 known rna NULL NULL 0.913 - - - no_errors CELSR2 HGNC CGNL1 84952 genome.wustl.edu 37 15 57837863 57837863 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 15 57837863 57837863 G A SNP CGNL1 ENST00000281282 human ensembl 70_37 +1 known missense c.3574 p.D1192N 1.000 pfam_Myosin_tail pfam_Myosin_tail,prints_Tropomyosin - no_errors CGNL1 HGNC CHD4 1108 genome.wustl.edu 37 12 6705248 6705248 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 12 6705248 6705248 C T SNP CHD4 ENST00000309577 human ensembl 70_37 -1 known missense c.1948 p.D650N 1.000 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC CHMP6 79643 genome.wustl.edu 37 17 78970822 78970822 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 78970822 78970822 G C SNP CHMP6 ENST00000325167 human ensembl 70_37 +1 known missense c.364 p.E122Q 1.000 pfam_Snf7 pfam_Snf7 - no_errors CHMP6 HGNC CIRBP 1153 genome.wustl.edu 37 19 1271012 1271012 + Nonsense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 1271012 1271012 C T SNP CIRBP ENST00000444172 human ensembl 70_37 +1 known nonsense c.28 p.Q10* 1.000 NULL NULL - no_errors CIRBP HGNC CLIP3 25999 genome.wustl.edu 37 19 36508864 36508864 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 36508864 36508864 G C SNP CLIP3 ENST00000360535 human ensembl 70_37 -1 known missense c.1213 p.L405V 1.000 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP3 HGNC COL27A1 85301 genome.wustl.edu 37 9 117052563 117052563 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 9 117052563 117052563 C T SNP COL27A1 ENST00000356083 human ensembl 70_37 +1 known silent c.4320 p.I1440 0.018 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC COL5A2 1290 genome.wustl.edu 37 2 189904002 189904002 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 2 189904002 189904002 C T SNP COL5A2 ENST00000374866 human ensembl 70_37 -1 known silent c.3921 p.Q1307 1.000 pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC CUBN 8029 genome.wustl.edu 37 10 16960771 16960771 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 10 16960771 16960771 C T SNP CUBN ENST00000377833 human ensembl 70_37 -1 known missense c.6850 p.D2284N 0.989 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC CXXC1 30827 genome.wustl.edu 37 18 47810933 47810933 + Splice_Site SNP C C A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 18 47810933 47810933 C A SNP CXXC1 ENST00000412036 human ensembl 70_37 -1 known splice_site c.1033-1 e9-1 1.000 - - - no_errors CXXC1 HGNC CXorf22 170063 genome.wustl.edu 37 X 35993317 35993317 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c X 35993317 35993317 C G SNP CXorf22 ENST00000297866 human ensembl 70_37 +1 known missense c.2308 p.L770V 0.000 NULL superfamily_PapD-like - no_errors CXorf22 HGNC CYP2A6 1548 genome.wustl.edu 37 19 41352833 41352833 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 41352833 41352833 C T SNP CYP2A6 ENST00000301141 human ensembl 70_37 -1 known missense c.778 p.D260N 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A6 HGNC DACH1 1602 genome.wustl.edu 37 13 72440795 72440795 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 13 72440795 72440795 G A SNP DACH1 ENST00000359684 human ensembl 70_37 -1 known missense c.113 p.S38L 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH1 HGNC DAPP1 27071 genome.wustl.edu 37 4 100761527 100761527 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 4 100761527 100761527 G C SNP DAPP1 ENST00000512369 human ensembl 70_37 +1 known missense c.306 p.L102F 0.999 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_SH2,pfam_Pleckstrin_homology,smart_SH2,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH2,prints_SH2 - no_errors DAPP1 HGNC DCHS2 54798 genome.wustl.edu 37 4 155264710 155264710 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 4 155264710 155264710 G A SNP DCHS2 ENST00000357232 human ensembl 70_37 -1 known missense c.889 p.H297Y 0.012 pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC DDR1 780 genome.wustl.edu 37 6 30867038 30867038 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 30867038 30867038 C T SNP DDR1 ENST00000376575 human ensembl 70_37 +1 known missense c.2725 p.R909W 0.991 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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR1 HGNC DGCR6 8214 genome.wustl.edu 37 22 18898505 18898505 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 22 18898505 18898505 G A SNP DGCR6 ENST00000331444 human ensembl 70_37 +1 known silent c.477 p.A159 0.220 pfam_DGCR6 pfam_DGCR6 - no_errors DGCR6 HGNC DISP2 85455 genome.wustl.edu 37 15 40656682 40656682 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 15 40656682 40656682 C G SNP DISP2 ENST00000267889 human ensembl 70_37 +1 known missense c.540 p.I180M 0.034 NULL pfscan_SSD - no_errors DISP2 HGNC DNMBP 23268 genome.wustl.edu 37 10 101637012 101637012 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 10 101637012 101637012 C T SNP DNMBP ENST00000342239 human ensembl 70_37 -1 known missense c.4702 p.E1568K 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC DPCR1 135656 genome.wustl.edu 37 6 30918216 30918216 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 30918216 30918216 G A SNP DPCR1 ENST00000462446 human ensembl 70_37 +1 novel missense c.1975 p.E659K 0.000 NULL NULL - no_errors DPCR1 HGNC DUOX1 53905 genome.wustl.edu 37 15 45430180 45430180 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 15 45430180 45430180 C T SNP DUOX1 ENST00000321429 human ensembl 70_37 +1 known missense c.1081 p.L361F 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC DYM 54808 genome.wustl.edu 37 18 46808458 46808458 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 18 46808458 46808458 G A SNP DYM ENST00000269445 human ensembl 70_37 -1 known missense c.1034 p.S345F 1.000 pfam_Dymeclin,superfamily_ARM-type_fold pfam_Dymeclin,superfamily_ARM-type_fold - no_errors DYM HGNC DYNC1I1 1780 genome.wustl.edu 37 7 95705393 95705393 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 7 95705393 95705393 G A SNP DYNC1I1 ENST00000324972 human ensembl 70_37 +1 known missense c.1585 p.E529K 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I1 HGNC DYRK4 8798 genome.wustl.edu 37 12 4682343 4682343 + RNA SNP A A C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 12 4682343 4682343 A C SNP DYRK4 ENST00000539490 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors DYRK4 HGNC EFCAB6 64800 genome.wustl.edu 37 22 43950956 43950956 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 22 43950956 43950956 C G SNP EFCAB6 ENST00000262726 human ensembl 70_37 -1 known missense c.3441 p.E1147D 1.000 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFCAB6 HGNC EFHC1 114327 genome.wustl.edu 37 6 52288785 52288785 + Missense_Mutation SNP C C A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 52288785 52288785 C A SNP EFHC1 ENST00000371068 human ensembl 70_37 +1 known missense c.105 p.N35K 0.168 NULL pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_HAND_2 - no_errors EFHC1 HGNC ELN 2006 genome.wustl.edu 37 7 73457475 73457475 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 7 73457475 73457475 G A SNP ELN ENST00000358929 human ensembl 70_37 +1 known missense c.404 p.G135E 0.548 NULL prints_Tropoelastin - no_errors ELN HGNC ENSG00000185044 0 genome.wustl.edu 37 1 143355622 143355622 + RNA SNP G G T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 143355622 143355622 G T SNP ENSG00000185044 ENST00000423249 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors BX004987.4 Clone_based_vega_gene ENSG00000212768 0 genome.wustl.edu 37 15 35271839 35271839 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 15 35271839 35271839 G C SNP ENSG00000212768 ENST00000391457 human ensembl 70_37 +1 known missense c.66 p.Q22H 0.022 NULL NULL - no_errors AC114546.1 Clone_based_ensembl_gene ENSG00000231512 0 genome.wustl.edu 37 1 243211121 243211121 + RNA SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 243211121 243211121 G A SNP ENSG00000231512 ENST00000420830 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-261C10.2 Clone_based_vega_gene ENSG00000251209 0 genome.wustl.edu 37 15 98417324 98417324 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 15 98417324 98417324 G A SNP ENSG00000251209 ENST00000503768 human ensembl 70_37 -1 known silent c.192 p.L64 0.023 NULL NULL - no_errors RP11-82I10.1 Clone_based_vega_gene ENSG00000259407 0 genome.wustl.edu 37 15 86287916 86287916 + RNA SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 15 86287916 86287916 C T SNP ENSG00000259407 ENST00000558375 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-158M2.3 Clone_based_vega_gene EP300 2033 genome.wustl.edu 37 22 41558764 41558764 + Missense_Mutation SNP G G T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 22 41558764 41558764 G T SNP EP300 ENST00000263253 human ensembl 70_37 +1 known missense c.3709 p.D1237Y 1.000 superfamily_Znf_FYVE_PHD pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC EP300 2033 genome.wustl.edu 37 22 41572405 41572405 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 22 41572405 41572405 G A SNP EP300 ENST00000263253 human ensembl 70_37 +1 known missense c.4934 p.R1645Q 0.998 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC EPHB3 2049 genome.wustl.edu 37 3 184294866 184294866 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 3 184294866 184294866 G A SNP EPHB3 ENST00000330394 human ensembl 70_37 +1 known missense c.1249 p.A417T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB3 HGNC EPRS 2058 genome.wustl.edu 37 1 220205772 220205772 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 220205772 220205772 G A SNP EPRS ENST00000366923 human ensembl 70_37 -1 known missense c.485 p.S162L 0.994 superfamily_Glutathione-S-Trfase_C-like pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk - no_errors EPRS HGNC F10 2159 genome.wustl.edu 37 13 113803395 113803395 + Missense_Mutation SNP C C A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 13 113803395 113803395 C A SNP F10 ENST00000375559 human ensembl 70_37 +1 known missense c.1031 p.P344H 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_FX,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Peptidase_S1_S6,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain - no_errors F10 HGNC AMER1 139285 genome.wustl.edu 37 X 63412416 63412416 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c X 63412416 63412416 C T SNP FAM123B ENST00000330258 human ensembl 70_37 -1 known missense c.751 p.E251K 0.022 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors FAM123B HGNC FAM149B1 317662 genome.wustl.edu 37 10 74992909 74992909 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 10 74992909 74992909 G A SNP FAM149B1 ENST00000242505 human ensembl 70_37 +1 known missense c.1340 p.R447K 1.000 NULL pfam_DUF3719 - no_errors FAM149B1 HGNC FAM172A 83989 genome.wustl.edu 37 5 93217310 93217310 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 5 93217310 93217310 C G SNP FAM172A ENST00000395965 human ensembl 70_37 -1 known missense c.652 p.D218H 1.000 pfam_Arb2_domain pfam_Arb2_domain - no_errors FAM172A HGNC FAM45A 404636 genome.wustl.edu 37 10 120871374 120871374 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 10 120871374 120871374 C G SNP FAM45A ENST00000361432 human ensembl 70_37 +1 known missense c.266 p.S89C 1.000 NULL pfam_Secretory_pathway_prot_Avl9 - no_errors FAM45A HGNC FAM5C 339479 genome.wustl.edu 37 1 190067983 190067983 + Missense_Mutation SNP T T C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 190067983 190067983 T C SNP FAM5C ENST00000367462 human ensembl 70_37 -1 known missense c.1466 p.E489G 1.000 NULL pfam_MACPF,smart_MACPF - no_errors FAM5C HGNC RMDN1 51115 genome.wustl.edu 37 8 87517501 87517501 + RNA SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 8 87517501 87517501 C T SNP FAM82B ENST00000518772 human ensembl 70_37 -1 putative rna NULL NULL 0.019 - - - no_errors FAM82B HGNC FBXW4 6468 genome.wustl.edu 37 10 103427677 103427677 + Nonsense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 10 103427677 103427677 G A SNP FBXW4 ENST00000331272 human ensembl 70_37 -1 known nonsense c.736 p.R246* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW4 HGNC FBXW8 26259 genome.wustl.edu 37 12 117402550 117402550 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 12 117402550 117402550 C T SNP FBXW8 ENST00000309909 human ensembl 70_37 +1 known silent c.726 p.Y242 0.227 superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_Quinonprotein_ADH-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW8 HGNC FCGBP 8857 genome.wustl.edu 37 19 40376976 40376976 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 40376976 40376976 C T SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known missense c.11446 p.E3816K 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC FCGBP 8857 genome.wustl.edu 37 19 40392661 40392661 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 40392661 40392661 C T SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known missense c.7843 p.E2615K 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC FEM1B 10116 genome.wustl.edu 37 15 68582995 68582995 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 15 68582995 68582995 C T SNP FEM1B ENST00000306917 human ensembl 70_37 +1 known silent c.1299 p.V433 0.875 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1B HGNC FFAR3 2865 genome.wustl.edu 37 19 35850071 35850071 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 35850071 35850071 C T SNP FFAR3 ENST00000327809 human ensembl 70_37 +1 known silent c.279 p.F93 0.978 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_recept - no_errors FFAR3 HGNC FLG2 388698 genome.wustl.edu 37 1 152324999 152324999 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 152324999 152324999 G C SNP FLG2 ENST00000388718 human ensembl 70_37 -1 known missense c.5263 p.Q1755E 0.752 prints_Filaggrin pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC FLG2 388698 genome.wustl.edu 37 1 152325017 152325017 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 152325017 152325017 G A SNP FLG2 ENST00000388718 human ensembl 70_37 -1 known missense c.5245 p.H1749Y 0.024 prints_Filaggrin pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC FMN1 342184 genome.wustl.edu 37 15 33261392 33261392 + Missense_Mutation SNP G G T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 15 33261392 33261392 G T SNP FMN1 ENST00000334528 human ensembl 70_37 -1 known missense c.1841 p.S614Y 0.989 NULL pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,prints_Formin - no_errors FMN1 HGNC FOXA3 3171 genome.wustl.edu 37 19 46375532 46375532 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 46375532 46375532 C T SNP FOXA3 ENST00000302177 human ensembl 70_37 +1 known missense c.269 p.S90F 0.716 pfam_Fork-head_N pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA3 HGNC GALNT6 11226 genome.wustl.edu 37 12 51752955 51752955 + Missense_Mutation SNP G G T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 12 51752955 51752955 G T SNP GALNT6 ENST00000356317 human ensembl 70_37 -1 known missense c.1329 p.F443L 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT6 HGNC GAP43 2596 genome.wustl.edu 37 3 115394886 115394886 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 3 115394886 115394886 G C SNP GAP43 ENST00000305124 human ensembl 70_37 +1 known missense c.57 p.K19N 1.000 pfam_Neuromodulin_gap-junction_N,prints_Neuromodulin pfam_Neuromodulin_C,pfam_Neuromodulin_gap-junction_N,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Neuromodulin - no_errors GAP43 HGNC GCM1 8521 genome.wustl.edu 37 6 53010373 53010373 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 53010373 53010373 C T SNP GCM1 ENST00000259803 human ensembl 70_37 -1 known missense c.58 p.D20N 1.000 superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM1 HGNC GDA 9615 genome.wustl.edu 37 9 74828903 74828903 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 9 74828903 74828903 G A SNP GDA ENST00000238018 human ensembl 70_37 +1 known missense c.574 p.E192K 0.600 pfam_Amidohydro_1,tigrfam_Guanine_deaminase pfam_Amidohydro_1,tigrfam_Guanine_deaminase - no_errors GDA HGNC GFRA2 2675 genome.wustl.edu 37 8 21608368 21608368 + Missense_Mutation SNP T T C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 8 21608368 21608368 T C SNP GFRA2 ENST00000517328 human ensembl 70_37 -1 known missense c.526 p.K176E 1.000 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_a2 - no_errors GFRA2 HGNC GLIPR1 11010 genome.wustl.edu 37 12 75874744 75874744 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 12 75874744 75874744 C T SNP GLIPR1 ENST00000266659 human ensembl 70_37 +1 known silent c.84 p.I28 0.000 superfamily_CAP_domain pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen - no_errors GLIPR1 HGNC GNA11 2767 genome.wustl.edu 37 19 3119049 3119049 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 3119049 3119049 G A SNP GNA11 ENST00000078429 human ensembl 70_37 +1 known missense c.733 p.E245K 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_GproteinA - no_errors GNA11 HGNC GNS 2799 genome.wustl.edu 37 12 65115475 65115475 + Missense_Mutation SNP G G T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 12 65115475 65115475 G T SNP GNS ENST00000258145 human ensembl 70_37 -1 known missense c.1319 p.P440Q 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase - no_errors GNS HGNC GPAA1 8733 genome.wustl.edu 37 8 145138198 145138198 + Missense_Mutation SNP G G T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 8 145138198 145138198 G T SNP GPAA1 ENST00000355091 human ensembl 70_37 +1 known missense c.246 p.K82N 1.000 pirsf_GPI_prot_transamidse_cplx_GAA1 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 - no_errors GPAA1 HGNC GPAA1 8733 genome.wustl.edu 37 8 145138904 145138904 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 8 145138904 145138904 G A SNP GPAA1 ENST00000355091 human ensembl 70_37 +1 known missense c.577 p.E193K 1.000 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 - no_errors GPAA1 HGNC GPR39 2863 genome.wustl.edu 37 2 133174897 133174897 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 2 133174897 133174897 C T SNP GPR39 ENST00000329321 human ensembl 70_37 +1 known silent c.282 p.I94 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR39 HGNC GPR98 84059 genome.wustl.edu 37 5 89924399 89924399 + Missense_Mutation SNP T T G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 5 89924399 89924399 T G SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.1259 p.V420G 1.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC HECTD1 25831 genome.wustl.edu 37 14 31597175 31597175 + Missense_Mutation SNP C C A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 14 31597175 31597175 C A SNP HECTD1 ENST00000399332 human ensembl 70_37 -1 known missense c.4797 p.L1599F 1.000 NULL pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC HECTD3 79654 genome.wustl.edu 37 1 45471529 45471529 + Nonsense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 45471529 45471529 C T SNP HECTD3 ENST00000372172 human ensembl 70_37 -1 known nonsense c.1872 p.W624* 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT - no_errors HECTD3 HGNC HELZ2 85441 genome.wustl.edu 37 20 62198794 62198794 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 20 62198794 62198794 C T SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known silent c.1917 p.A639 0.000 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC HIF1A 3091 genome.wustl.edu 37 14 62193410 62193410 + RNA SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 14 62193410 62193410 C T SNP HIF1A ENST00000556237 human ensembl 70_37 +1 putative rna NULL NULL 0.075 - - - no_errors HIF1A HGNC HIST1H2BD 3017 genome.wustl.edu 37 6 26158492 26158492 + Missense_Mutation SNP G G T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 26158492 26158492 G T SNP HIST1H2BD ENST00000289316 human ensembl 70_37 +1 known missense c.95 p.R32L 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BD HGNC HLA-C 3107 genome.wustl.edu 37 6 31239773 31239773 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 31239773 31239773 C G SNP HLA-C ENST00000539307 human ensembl 70_37 -1 known missense c.76 p.E26Q 0.989 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-C HGNC HMCN2 256158 genome.wustl.edu 37 9 133269206 133269206 + RNA SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 9 133269206 133269206 G A SNP HMCN2 ENST00000487727 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors HMCN2 HGNC HMG20B 10362 genome.wustl.edu 37 19 3574375 3574375 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 3574375 3574375 C T SNP HMG20B ENST00000435022 human ensembl 70_37 +1 known missense c.155 p.S52F 0.562 NULL NULL - no_errors HMG20B HGNC HNRNPA0 10949 genome.wustl.edu 37 5 137089493 137089493 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 5 137089493 137089493 G A SNP HNRNPA0 ENST00000314940 human ensembl 70_37 -1 known missense c.263 p.S88L 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA0 HGNC HPS5 11234 genome.wustl.edu 37 11 18319183 18319183 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 11 18319183 18319183 G C SNP HPS5 ENST00000349215 human ensembl 70_37 -1 known missense c.1246 p.Q416E 1.000 pirsf_BLOC-2_complex_Hps5_subunit superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit - no_errors HPS5 HGNC HRH1 3269 genome.wustl.edu 37 3 11302022 11302022 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 3 11302022 11302022 C G SNP HRH1 ENST00000397056 human ensembl 70_37 +1 known missense c.1299 p.I433M 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H1_recept,prints_GPCR_Rhodpsn,prints_Musac_rcpt - no_errors HRH1 HGNC HSPA1A 3303 genome.wustl.edu 37 6 31783743 31783743 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 31783743 31783743 G A SNP HSPA1A ENST00000375651 human ensembl 70_37 +1 known silent c.210 p.A70 0.987 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1A HGNC HSPG2 3339 genome.wustl.edu 37 1 22177951 22177951 + RNA SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 22177951 22177951 C G SNP HSPG2 ENST00000493940 human ensembl 70_37 -1 known rna NULL NULL 0.009 - - - no_errors HSPG2 HGNC HTR1B 3351 genome.wustl.edu 37 6 78173057 78173057 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 78173057 78173057 G C SNP HTR1B ENST00000369947 human ensembl 70_37 -1 known missense c.64 p.Q22E 0.003 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1B_rcpt,prints_5HT_rcpt,prints_Adrnrgc_rcpt - no_errors HTR1B HGNC HTR3D 200909 genome.wustl.edu 37 3 183755875 183755875 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 3 183755875 183755875 C G SNP HTR3D ENST00000382489 human ensembl 70_37 +1 known missense c.727 p.L243V 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd - no_errors HTR3D HGNC IFNGR1 3459 genome.wustl.edu 37 6 137519721 137519721 + Nonsense_Mutation SNP G G T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 137519721 137519721 G T SNP IFNGR1 ENST00000367739 human ensembl 70_37 -1 known nonsense c.917 p.S306* 0.199 pfam_Interferon_gamma_pox/mammal pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu - no_errors IFNGR1 HGNC IGFL3 388555 genome.wustl.edu 37 19 46627226 46627226 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 46627226 46627226 G A SNP IGFL3 ENST00000341415 human ensembl 70_37 -1 known silent c.267 p.P89 0.009 NULL NULL - no_errors IGFL3 HGNC INO80 54617 genome.wustl.edu 37 15 41347514 41347514 + Nonsense_Mutation SNP C C A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 15 41347514 41347514 C A SNP INO80 ENST00000361937 human ensembl 70_37 -1 known nonsense c.2119 p.E707* 1.000 pfam_SNF2_N,smart_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors INO80 HGNC INPP5D 3635 genome.wustl.edu 37 2 234113029 234113029 + Missense_Mutation SNP T T C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 2 234113029 234113029 T C SNP INPP5D ENST00000359570 human ensembl 70_37 +1 known missense c.3197 p.V1066A 0.000 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2 - no_errors INPP5D HGNC ITGA4 3676 genome.wustl.edu 37 2 182374496 182374496 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 2 182374496 182374496 C G SNP ITGA4 ENST00000397033 human ensembl 70_37 +1 known missense c.1807 p.L603V 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC JKAMP 51528 genome.wustl.edu 37 14 59951218 59951218 + RNA SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 14 59951218 59951218 G A SNP JKAMP ENST00000554754 human ensembl 70_37 +1 known rna NULL NULL 0.994 - - - no_errors JKAMP HGNC JMJD4 65094 genome.wustl.edu 37 1 227920351 227920351 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 227920351 227920351 G C SNP JMJD4 ENST00000366758 human ensembl 70_37 -1 known missense c.1134 p.I378M 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD4 HGNC JMJD6 23210 genome.wustl.edu 37 17 74719994 74719994 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 74719994 74719994 C T SNP JMJD6 ENST00000445478 human ensembl 70_37 -1 known missense c.665 p.R222Q 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD6 HGNC KAT2A 2648 genome.wustl.edu 37 17 40271595 40271595 + Nonsense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 40271595 40271595 G A SNP KAT2A ENST00000225916 human ensembl 70_37 -1 known nonsense c.841 p.Q281* 1.000 pirsf_Hist_acetylase_PCAF,pfam_PCAF_N pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom - no_errors KAT2A HGNC KCNH3 23416 genome.wustl.edu 37 12 49951641 49951641 + Silent SNP T T C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 12 49951641 49951641 T C SNP KCNH3 ENST00000257981 human ensembl 70_37 +1 known silent c.3157 p.L1053 1.000 NULL pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC KCNV1 27012 genome.wustl.edu 37 8 110986320 110986320 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 8 110986320 110986320 C T SNP KCNV1 ENST00000297404 human ensembl 70_37 -1 known missense c.298 p.E100K 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv4 pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC KIAA1804 84451 genome.wustl.edu 37 1 233514845 233514845 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 233514845 233514845 C T SNP KIAA1804 ENST00000366624 human ensembl 70_37 +1 known missense c.2093 p.A698V 0.685 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors MLK4 Uniprot_genename KIAA1804 84451 genome.wustl.edu 37 1 233518365 233518365 + Nonsense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 233518365 233518365 C T SNP KIAA1804 ENST00000366624 human ensembl 70_37 +1 known nonsense c.3019 p.Q1007* 1.000 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors MLK4 Uniprot_genename KIDINS220 57498 genome.wustl.edu 37 2 8931324 8931325 + Frame_Shift_Ins INS - - CA TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 2 8931324 8931325 - CA INS KIDINS220 ENST00000256707 human ensembl 70_37 -1 known frame_shift_ins c.1307_1306 p.D436fs 1.000:1.000 NULL pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC KIF20B 9585 genome.wustl.edu 37 10 91533786 91533786 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 10 91533786 91533786 G A SNP KIF20B ENST00000416354 human ensembl 70_37 +1 known missense c.5534 p.R1845Q 0.851 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC LAMC1 3915 genome.wustl.edu 37 1 183090971 183090971 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 183090971 183090971 G C SNP LAMC1 ENST00000258341 human ensembl 70_37 +1 known missense c.2104 p.E702Q 1.000 NULL pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC LDHC 3948 genome.wustl.edu 37 11 18467785 18467785 + Missense_Mutation SNP T T C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 11 18467785 18467785 T C SNP LDHC ENST00000280704 human ensembl 70_37 +1 known missense c.739 p.Y247H 1.000 pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHC HGNC LDLRAP1 26119 genome.wustl.edu 37 1 25894702 25894702 + RNA SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 25894702 25894702 C T SNP LDLRAP1 ENST00000488127 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LDLRAP1 HGNC LOC100507003 100507003 genome.wustl.edu 37 19 49929715 49929715 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 49929715 49929715 C G SNP LOC100507003 ENST00000576655 human ensembl 70_37 +1 putative missense c.28 p.L10V 0.945 NULL NULL - no_errors CTD-3148I10.1 Clone_based_vega_gene LOC100507003 100507003 genome.wustl.edu 37 19 49930563 49930563 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 49930563 49930563 C T SNP LOC100507003 ENST00000576655 human ensembl 70_37 +1 putative silent c.876 p.F292 0.171 NULL NULL - no_errors CTD-3148I10.1 Clone_based_vega_gene LRFN1 57622 genome.wustl.edu 37 19 39799112 39799112 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 39799112 39799112 C T SNP LRFN1 ENST00000248668 human ensembl 70_37 -1 known missense c.1477 p.V493M 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN1 HGNC LRRC37A3 374819 genome.wustl.edu 37 17 62892990 62892990 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 62892990 62892990 G A SNP LRRC37A3 ENST00000319651 human ensembl 70_37 -1 known missense c.386 p.S129L 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC LZTR1 8216 genome.wustl.edu 37 22 21346583 21346583 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 22 21346583 21346583 C G SNP LZTR1 ENST00000215739 human ensembl 70_37 +1 known missense c.1074 p.F358L 1.000 NULL pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC MAGEE1 57692 genome.wustl.edu 37 X 75649186 75649186 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c X 75649186 75649186 G A SNP MAGEE1 ENST00000361470 human ensembl 70_37 +1 known missense c.863 p.R288H 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC MAGT1 84061 genome.wustl.edu 37 X 77150969 77150969 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c X 77150969 77150969 G A SNP MAGT1 ENST00000358075 human ensembl 70_37 -1 known missense c.35 p.S12L 0.998 NULL pfam_OligosaccharylTrfase_OST3/OST6,superfamily_Thioredoxin-like_fold - no_errors MAGT1 HGNC MAMDC2 256691 genome.wustl.edu 37 9 72727910 72727910 + Splice_Site SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 9 72727910 72727910 G A SNP MAMDC2 ENST00000377182 human ensembl 70_37 +1 known splice_site c.506-1 e5-1 1.000 - - - no_errors MAMDC2 HGNC MAP3K19 80122 genome.wustl.edu 37 2 135745585 135745585 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 2 135745585 135745585 G A SNP MAP3K19 ENST00000375845 human ensembl 70_37 -1 known missense c.857 p.S286L 0.983 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K19 HGNC MAPKAP1 79109 genome.wustl.edu 37 9 128206818 128206818 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 9 128206818 128206818 C T SNP MAPKAP1 ENST00000265960 human ensembl 70_37 -1 known missense c.1405 p.E469K 1.000 pfam_SIN1 pfam_SIN1 - no_errors MAPKAP1 HGNC MATN2 4147 genome.wustl.edu 37 8 98943460 98943460 + Missense_Mutation SNP A A G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 8 98943460 98943460 A G SNP MATN2 ENST00000254898 human ensembl 70_37 +1 known missense c.422 p.Q141R 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A - no_errors MATN2 HGNC MBOAT1 154141 genome.wustl.edu 37 6 20109874 20109874 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 20109874 20109874 G A SNP MBOAT1 ENST00000324607 human ensembl 70_37 -1 known missense c.1316 p.A439V 0.287 NULL pfam_MBOAT_fam - no_errors MBOAT1 HGNC MCF2 4168 genome.wustl.edu 37 X 138678828 138678828 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c X 138678828 138678828 G C SNP MCF2 ENST00000370578 human ensembl 70_37 -1 known missense c.2592 p.F864L 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2 HGNC MED25 81857 genome.wustl.edu 37 19 50338817 50338817 + Silent SNP G G T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 50338817 50338817 G T SNP MED25 ENST00000312865 human ensembl 70_37 +1 known silent c.1701 p.G567 0.533 NULL pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box - no_errors MED25 HGNC MED26 9441 genome.wustl.edu 37 19 16687305 16687305 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 16687305 16687305 C G SNP MED26 ENST00000263390 human ensembl 70_37 -1 known missense c.1336 p.D446H 0.299 NULL pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors MED26 HGNC KMT2C 58508 genome.wustl.edu 37 7 151874923 151874923 + Nonsense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 7 151874923 151874923 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.7615 p.Q2539* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC KMT2B 9757 genome.wustl.edu 37 19 36223347 36223347 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 36223347 36223347 C T SNP MLL4 ENST00000222270 human ensembl 70_37 +1 known missense c.5897 p.S1966F 0.993 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors WBP7 Uniprot_genename MUC16 94025 genome.wustl.edu 37 19 8993541 8993541 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 8993541 8993541 C G SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.41548 p.E13850Q 0.000 pfam_SEA pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC4 4585 genome.wustl.edu 37 3 195490965 195490965 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 3 195490965 195490965 C T SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known silent c.13995 p.Q4665 0.964 pfam_AMOP,smart_AMOP,pfscan_AMOP pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC4 4585 genome.wustl.edu 37 3 195509059 195509059 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 3 195509059 195509059 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.9392 p.T3131R 0.546 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MXI1 4601 genome.wustl.edu 37 10 112045704 112045705 + RNA INS - - A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 10 112045704 112045705 - A INS MXI1 ENST00000485566 human ensembl 70_37 +1 known rna NULL NULL 0.991:0.827 - - - no_errors MXI1 HGNC MYH13 8735 genome.wustl.edu 37 17 10219250 10219250 + Silent SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 10219250 10219250 C G SNP MYH13 ENST00000252172 human ensembl 70_37 -1 known silent c.3831 p.L1277 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC MYLPF 29895 genome.wustl.edu 37 16 30388990 30388990 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 16 30388990 30388990 G A SNP MYLPF ENST00000322861 human ensembl 70_37 +1 known silent c.372 p.L124 0.337 smart_EF_hand_Ca-bd smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MYLPF HGNC MZF1 7593 genome.wustl.edu 37 19 59082675 59082675 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 59082675 59082675 C G SNP MZF1 ENST00000215057 human ensembl 70_37 -1 known missense c.82 p.E28Q 0.929 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors MZF1 HGNC NCLN 56926 genome.wustl.edu 37 19 3193402 3193402 + Nonsense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 3193402 3193402 C T SNP NCLN ENST00000246117 human ensembl 70_37 +1 known nonsense c.496 p.Q166* 1.000 pirsf_Nicalin pfam_Peptidase_M28,pfam_Nicastrin,pirsf_Nicalin - no_errors NCLN HGNC NOL6 65083 genome.wustl.edu 37 9 33463870 33463870 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 9 33463870 33463870 C T SNP NOL6 ENST00000297990 human ensembl 70_37 -1 known missense c.2953 p.E985K 1.000 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC NPAS4 266743 genome.wustl.edu 37 11 66191431 66191431 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 11 66191431 66191431 C G SNP NPAS4 ENST00000311034 human ensembl 70_37 +1 known missense c.1070 p.S357C 1.000 NULL pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC NPEPPS 9520 genome.wustl.edu 37 17 45662986 45662986 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 45662986 45662986 G A SNP NPEPPS ENST00000322157 human ensembl 70_37 +1 known missense c.769 p.E257K 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors NPEPPS HGNC NPEPPS 9520 genome.wustl.edu 37 17 45663580 45663580 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 45663580 45663580 G C SNP NPEPPS ENST00000322157 human ensembl 70_37 +1 known missense c.916 p.D306H 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors NPEPPS HGNC NR2F6 2063 genome.wustl.edu 37 19 17355841 17355841 + Silent SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 17355841 17355841 C G SNP NR2F6 ENST00000291442 human ensembl 70_37 -1 known silent c.189 p.S63 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR2F6 HGNC NRG4 145957 genome.wustl.edu 37 15 76248315 76248315 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 15 76248315 76248315 C G SNP NRG4 ENST00000394907 human ensembl 70_37 -1 known missense c.289 p.D97H 0.371 NULL smart_EG-like_dom,pfscan_EG-like_dom - no_errors NRG4 HGNC NRXN3 9369 genome.wustl.edu 37 14 79432549 79432549 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 14 79432549 79432549 G A SNP NRXN3 ENST00000554738 human ensembl 70_37 +1 known silent c.2544 p.L848 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC NSD1 64324 genome.wustl.edu 37 5 176636850 176636850 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 5 176636850 176636850 G C SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known missense c.1450 p.E484Q 1.000 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC NSD1 64324 genome.wustl.edu 37 5 176636899 176636899 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 5 176636899 176636899 G C SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known missense c.1499 p.R500T 0.919 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC NSD1 64324 genome.wustl.edu 37 5 176637357 176637357 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 5 176637357 176637357 G A SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known missense c.1957 p.E653K 0.979 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC NSD1 64324 genome.wustl.edu 37 5 176638806 176638806 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 5 176638806 176638806 G A SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known missense c.3406 p.E1136K 0.203 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC NSD1 64324 genome.wustl.edu 37 5 176638817 176638817 + Silent SNP T T A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 5 176638817 176638817 T A SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known silent c.3417 p.S1139 0.995 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC NSD1 64324 genome.wustl.edu 37 5 176638839 176638839 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 5 176638839 176638839 G A SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known missense c.3439 p.E1147K 0.989 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC OIP5 11339 genome.wustl.edu 37 15 41601953 41601953 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 15 41601953 41601953 C T SNP OIP5 ENST00000220514 human ensembl 70_37 -1 known silent c.689 p.*230 0.270 NULL NULL - no_errors OIP5 HGNC OR7E5P 219445 genome.wustl.edu 37 12 52501798 52501798 + RNA SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 12 52501798 52501798 G A SNP OR7E5P ENST00000546390 human ensembl 70_37 +1 known rna NULL NULL 0.155 - - - no_errors OR7E5P HGNC PADI2 11240 genome.wustl.edu 37 1 17394881 17394881 + RNA SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 17394881 17394881 G A SNP PADI2 ENST00000466151 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PADI2 HGNC PARD3B 117583 genome.wustl.edu 37 2 206166584 206166584 + RNA SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 2 206166584 206166584 G C SNP PARD3B ENST00000462231 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors PARD3B HGNC PCDH19 57526 genome.wustl.edu 37 X 99551216 99551216 + RNA SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c X 99551216 99551216 G A SNP PCDH19 ENST00000464981 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PCDH19 HGNC PCDHGA9 56107 genome.wustl.edu 37 5 140783709 140783709 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 5 140783709 140783709 C T SNP PCDHGA9 ENST00000573521 human ensembl 70_37 +1 known missense c.1190 p.S397L 0.238 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA9 HGNC PCDHGA9 56107 genome.wustl.edu 37 5 140783879 140783879 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 5 140783879 140783879 C G SNP PCDHGA9 ENST00000573521 human ensembl 70_37 +1 known missense c.1360 p.Q454E 0.015 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA9 HGNC PCNXL3 399909 genome.wustl.edu 37 11 65383829 65383829 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 11 65383829 65383829 C T SNP PCNXL3 ENST00000355703 human ensembl 70_37 +1 known missense c.47 p.S16L 1.000 NULL pfam_Pecanex - no_errors PCNXL3 HGNC PDLIM2 64236 genome.wustl.edu 37 8 22447189 22447189 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 8 22447189 22447189 G A SNP PDLIM2 ENST00000308354 human ensembl 70_37 +1 known missense c.1448 p.R483Q 0.797 NULL pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM2 HGNC PHOSPHO1 162466 genome.wustl.edu 37 17 47302015 47302015 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 47302015 47302015 G A SNP PHOSPHO1 ENST00000413580 human ensembl 70_37 -1 known silent c.472 p.L158 0.981 pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like - no_errors PHOSPHO1 HGNC PIK3CA 5290 genome.wustl.edu 37 3 178916890 178916890 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 3 178916890 178916890 C T SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.277 p.R93W 1.000 pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PIR 8544 genome.wustl.edu 37 X 15408179 15408179 + RNA SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c X 15408179 15408179 C T SNP PIR ENST00000484433 human ensembl 70_37 -1 known rna NULL NULL 0.086 - - - no_errors PIR HGNC PLCD3 113026 genome.wustl.edu 37 17 43198400 43198400 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 43198400 43198400 G A SNP PLCD3 ENST00000322765 human ensembl 70_37 -1 known silent c.423 p.I141 1.000 smart_Pleckstrin_homology pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD3 HGNC PLEKHA6 22874 genome.wustl.edu 37 1 204214745 204214745 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 204214745 204214745 C T SNP PLEKHA6 ENST00000272203 human ensembl 70_37 -1 known missense c.2030 p.R677K 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC PLIN5 440503 genome.wustl.edu 37 19 4525653 4525653 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 4525653 4525653 G A SNP PLIN5 ENST00000381848 human ensembl 70_37 -1 known silent c.712 p.L238 0.901 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN5 HGNC POU4F2 5458 genome.wustl.edu 37 4 147560492 147560492 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 4 147560492 147560492 G A SNP POU4F2 ENST00000281321 human ensembl 70_37 +1 known missense c.200 p.G67E 0.974 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU4F2 HGNC PPP2R5C 5527 genome.wustl.edu 37 14 102391583 102391583 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 14 102391583 102391583 G A SNP PPP2R5C ENST00000422945 human ensembl 70_37 +1 known missense c.1642 p.E548K 0.997 NULL pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5C HGNC PPP4R4 57718 genome.wustl.edu 37 14 94718190 94718190 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 14 94718190 94718190 C G SNP PPP4R4 ENST00000304338 human ensembl 70_37 +1 known missense c.1822 p.L608V 0.993 superfamily_ARM-type_fold superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R4 HGNC PPRC1 23082 genome.wustl.edu 37 10 103908292 103908292 + RNA SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 10 103908292 103908292 C T SNP PPRC1 ENST00000495914 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PPRC1 HGNC PRDX6 9588 genome.wustl.edu 37 1 173455459 173455459 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 173455459 173455459 G A SNP PRDX6 ENST00000340385 human ensembl 70_37 +1 known silent c.465 p.R155 0.956 superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Peroxiredoxin_C,pfam_Redoxin,superfamily_Thioredoxin-like_fold - no_errors PRDX6 HGNC PRL 5617 genome.wustl.edu 37 6 22287684 22287684 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 22287684 22287684 C T SNP PRL ENST00000306482 human ensembl 70_37 -1 known missense c.631 p.D211N 0.997 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors PRL HGNC PRRC2B 84726 genome.wustl.edu 37 9 134322565 134322565 + Nonsense_Mutation SNP A A T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 9 134322565 134322565 A T SNP PRRC2B ENST00000357304 human ensembl 70_37 +1 known nonsense c.949 p.R317* 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC PSG5 5673 genome.wustl.edu 37 19 43688967 43688967 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 43688967 43688967 C T SNP PSG5 ENST00000342951 human ensembl 70_37 -1 known missense c.397 p.G133R 0.000 smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG5 HGNC PTPRS 5802 genome.wustl.edu 37 19 5231417 5231417 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 5231417 5231417 C G SNP PTPRS ENST00000372412 human ensembl 70_37 -1 known missense c.2062 p.E688Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like - no_errors PTPRS HGNC PXDC1 221749 genome.wustl.edu 37 6 3738335 3738335 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 3738335 3738335 C T SNP PXDC1 ENST00000380283 human ensembl 70_37 -1 known missense c.304 p.E102K 1.000 pfam_Phox,superfamily_Phox pfam_Phox,superfamily_Phox - no_errors PXDC1 HGNC PYHIN1 149628 genome.wustl.edu 37 1 158908876 158908876 + Missense_Mutation SNP A A C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 158908876 158908876 A C SNP PYHIN1 ENST00000368140 human ensembl 70_37 +1 known missense c.418 p.K140Q 0.002 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors PYHIN1 HGNC RAB40AL 282808 genome.wustl.edu 37 X 102192462 102192462 + Silent SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c X 102192462 102192462 G C SNP RAB40AL ENST00000218249 human ensembl 70_37 +1 known silent c.216 p.G72 0.998 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB40AL HGNC RALGPS1 9649 genome.wustl.edu 37 9 129728136 129728136 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 9 129728136 129728136 C T SNP RALGPS1 ENST00000259351 human ensembl 70_37 +1 known missense c.71 p.S24L 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS1 HGNC RALYL 138046 genome.wustl.edu 37 8 85762241 85762241 + Missense_Mutation SNP A A G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 8 85762241 85762241 A G SNP RALYL ENST00000521268 human ensembl 70_37 +1 known missense c.392 p.Y131C 1.000 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALYL HGNC RBFOX1 54715 genome.wustl.edu 37 16 7657297 7657297 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 16 7657297 7657297 G C SNP RBFOX1 ENST00000547372 human ensembl 70_37 +1 known missense c.762 p.L254F 1.000 pirsf_RNA-bd_Fox-1 pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC RBM12 10137 genome.wustl.edu 37 20 34241792 34241792 + Missense_Mutation SNP T T G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 20 34241792 34241792 T G SNP RBM12 ENST00000359646 human ensembl 70_37 -1 known missense c.1453 p.K485Q 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12 HGNC RBM14 10432 genome.wustl.edu 37 11 66392285 66392285 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 11 66392285 66392285 C T SNP RBM14 ENST00000310137 human ensembl 70_37 +1 known missense c.938 p.S313L 0.984 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM14 HGNC RBM14 10432 genome.wustl.edu 37 11 66392783 66392783 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 11 66392783 66392783 C T SNP RBM14 ENST00000310137 human ensembl 70_37 +1 known missense c.1436 p.S479L 0.994 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM14 HGNC RFC5 5985 genome.wustl.edu 37 12 118454660 118454660 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 12 118454660 118454660 G A SNP RFC5 ENST00000454402 human ensembl 70_37 +1 known missense c.28 p.E10K 0.920 NULL pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_DUF815,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC5 HGNC RFC5 5985 genome.wustl.edu 37 12 118454686 118454686 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 12 118454686 118454686 G A SNP RFC5 ENST00000454402 human ensembl 70_37 +1 known silent c.54 p.R18 0.997 pfam_DUF815 pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_DUF815,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC5 HGNC ROR2 4920 genome.wustl.edu 37 9 94538029 94538029 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 9 94538029 94538029 G A SNP ROR2 ENST00000375708 human ensembl 70_37 -1 known silent c.169 p.L57 1.000 pirsf_Tyr_kinase_rcpt_ROR,pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROR2 HGNC RUSC1 23623 genome.wustl.edu 37 1 155291885 155291885 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 155291885 155291885 C G SNP RUSC1 ENST00000368352 human ensembl 70_37 +1 known missense c.321 p.S107R 1.000 NULL pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC1 HGNC RUSC1 23623 genome.wustl.edu 37 1 155291887 155291887 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 155291887 155291887 C T SNP RUSC1 ENST00000368352 human ensembl 70_37 +1 known missense c.323 p.S108F 1.000 NULL pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC1 HGNC RUSC2 9853 genome.wustl.edu 37 9 35546762 35546762 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 9 35546762 35546762 G A SNP RUSC2 ENST00000361226 human ensembl 70_37 +1 known missense c.244 p.D82N 0.989 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC SAMD1 90378 genome.wustl.edu 37 19 14200167 14200167 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 14200167 14200167 C T SNP SAMD1 ENST00000533683 human ensembl 70_37 -1 novel missense c.644 p.G215E 1.000 NULL pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD1 HGNC SERGEF 26297 genome.wustl.edu 37 11 17899778 17899778 + Nonsense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 11 17899778 17899778 G C SNP SERGEF ENST00000265965 human ensembl 70_37 -1 known nonsense c.1025 p.S342* 0.997 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors SERGEF HGNC SH3GL1P1 6458 genome.wustl.edu 37 17 30367483 30367483 + RNA SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 30367483 30367483 C G SNP SH3GL1P1 ENST00000582640 human ensembl 70_37 +1 known rna NULL NULL 0.997 - - - no_errors SH3GL1P1 HGNC SLC25A43 203427 genome.wustl.edu 37 X 118588170 118588170 + RNA SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c X 118588170 118588170 C G SNP SLC25A43 ENST00000488158 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC25A43 HGNC SLC30A2 7780 genome.wustl.edu 37 1 26368273 26368273 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 26368273 26368273 G A SNP SLC30A2 ENST00000374276 human ensembl 70_37 -1 known silent c.756 p.P252 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A2 HGNC SLC38A10 124565 genome.wustl.edu 37 17 79225149 79225149 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 79225149 79225149 G A SNP SLC38A10 ENST00000288439 human ensembl 70_37 -1 known missense c.2209 p.R737W 0.000 NULL pfam_AA_transpt_TM - no_errors SLC38A10 HGNC SLC4A2 6522 genome.wustl.edu 37 7 150768846 150768846 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 7 150768846 150768846 C T SNP SLC4A2 ENST00000413384 human ensembl 70_37 +1 known silent c.2262 p.F754 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC SLC4A2 6522 genome.wustl.edu 37 7 150771157 150771157 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 7 150771157 150771157 C T SNP SLC4A2 ENST00000413384 human ensembl 70_37 +1 known missense c.2567 p.S856L 0.440 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC SLC4A2 6522 genome.wustl.edu 37 7 150771163 150771163 + Missense_Mutation SNP C C A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 7 150771163 150771163 C A SNP SLC4A2 ENST00000413384 human ensembl 70_37 +1 known missense c.2573 p.S858Y 0.989 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC SLC6A6 6533 genome.wustl.edu 37 3 14486250 14486250 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 3 14486250 14486250 C T SNP SLC6A6 ENST00000435095 human ensembl 70_37 +1 known silent c.234 p.L78 0.744 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport - no_errors SLC6A6 HGNC SMARCA4 6597 genome.wustl.edu 37 19 11106898 11106898 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 11106898 11106898 G A SNP SMARCA4 ENST00000358026 human ensembl 70_37 +1 known missense c.1603 p.E535K 1.000 NULL 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 SMCR7 125170 genome.wustl.edu 37 17 18167278 18167278 + Missense_Mutation SNP G G T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 18167278 18167278 G T SNP SMCR7 ENST00000323019 human ensembl 70_37 +1 known missense c.565 p.G189W 0.001 NULL NULL - no_errors SMCR7 HGNC SMG1 23049 genome.wustl.edu 37 16 18846284 18846284 + Missense_Mutation SNP G G T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 16 18846284 18846284 G T SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known missense c.8260 p.H2754N 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC SMPD1 6609 genome.wustl.edu 37 11 6412643 6412643 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 11 6412643 6412643 C T SNP SMPD1 ENST00000342245 human ensembl 70_37 +1 known silent c.348 p.S116 0.000 superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB pfam_Metallo_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB - no_errors SMPD1 HGNC SNCG 6623 genome.wustl.edu 37 10 88719858 88719858 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 10 88719858 88719858 C T SNP SNCG ENST00000348795 human ensembl 70_37 +1 known missense c.316 p.R106C 0.002 NULL pfam_Synuclein,prints_Synuclein - no_errors SNCG HGNC SNORD3A 780851 genome.wustl.edu 37 17 19091383 19091383 + RNA SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 19091383 19091383 G A SNP SNORD3A ENST00000365494 human ensembl 70_37 +1 known rna NULL NULL 0.986 - - - no_errors SNORD3A HGNC SORCS1 114815 genome.wustl.edu 37 10 108427547 108427547 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 10 108427547 108427547 C G SNP SORCS1 ENST00000344440 human ensembl 70_37 -1 known missense c.2203 p.E735Q 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC SRPK2 6733 genome.wustl.edu 37 7 104773330 104773330 + Nonsense_Mutation SNP C C A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 7 104773330 104773330 C A SNP SRPK2 ENST00000393651 human ensembl 70_37 -1 known nonsense c.1660 p.E554* 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors SRPK2 HGNC SRPX2 27286 genome.wustl.edu 37 X 99901356 99901356 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c X 99901356 99901356 C G SNP SRPX2 ENST00000373004 human ensembl 70_37 +1 known missense c.37 p.L13V 0.957 NULL pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,superfamily_Thioredoxin-like_fold,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP - no_errors SRPX2 HGNC STON2 85439 genome.wustl.edu 37 14 81745071 81745071 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 14 81745071 81745071 G A SNP STON2 ENST00000267540 human ensembl 70_37 -1 known missense c.584 p.S195L 0.988 pfam_Stonin2_N,pirsf_Stonin pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON2 HGNC SYNPO2 171024 genome.wustl.edu 37 4 119952442 119952442 + Nonsense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 4 119952442 119952442 C T SNP SYNPO2 ENST00000307142 human ensembl 70_37 +1 known nonsense c.2512 p.Q838* 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2 HGNC SYTL2 54843 genome.wustl.edu 37 11 85422265 85422265 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 11 85422265 85422265 C T SNP SYTL2 ENST00000359152 human ensembl 70_37 -1 known missense c.4259 p.R1420K 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYTL2 HGNC TBC1D19 55296 genome.wustl.edu 37 4 26719616 26719616 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 4 26719616 26719616 C T SNP TBC1D19 ENST00000264866 human ensembl 70_37 +1 known missense c.1016 p.S339L 1.000 smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D19 HGNC TBC1D2B 23102 genome.wustl.edu 37 15 78316761 78316761 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 15 78316761 78316761 C T SNP TBC1D2B ENST00000300584 human ensembl 70_37 -1 known missense c.1207 p.D403N 0.741 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2B HGNC TBCK 93627 genome.wustl.edu 37 4 107173034 107173034 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 4 107173034 107173034 C G SNP TBCK ENST00000273980 human ensembl 70_37 -1 known missense c.586 p.E196Q 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_Rab-GTPase-TBC_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rhodanese-like_dom,superfamily_Kinase-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Rab-GTPase-TBC_dom,smart_Rhodanese-like_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Prot_kinase_cat_dom,pfscan_Rhodanese-like_dom - no_errors TBCK HGNC TBX18 9096 genome.wustl.edu 37 6 85457706 85457706 + Nonsense_Mutation SNP C C A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 85457706 85457706 C A SNP TBX18 ENST00000369663 human ensembl 70_37 -1 known nonsense c.871 p.E291* 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX18 HGNC TCF25 22980 genome.wustl.edu 37 16 89961512 89961512 + Nonsense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 16 89961512 89961512 C T SNP TCF25 ENST00000263346 human ensembl 70_37 +1 known nonsense c.895 p.Q299* 1.000 pfam_TCF25 pfam_TCF25 - no_errors TCF25 HGNC TCTE3 6991 genome.wustl.edu 37 6 170143221 170143221 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 170143221 170143221 G A SNP TCTE3 ENST00000366774 human ensembl 70_37 -1 known silent c.441 p.F147 0.997 pfam_Tctex pfam_Tctex - no_errors TCTE3 HGNC TDRD1 56165 genome.wustl.edu 37 10 115947636 115947636 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 10 115947636 115947636 G A SNP TDRD1 ENST00000251864 human ensembl 70_37 +1 known missense c.46 p.E16K 0.986 NULL pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC TENC1 23371 genome.wustl.edu 37 12 53454520 53454520 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 12 53454520 53454520 G A SNP TENC1 ENST00000314276 human ensembl 70_37 +1 known missense c.2860 p.E954K 0.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC TLE2 7089 genome.wustl.edu 37 19 3005538 3005538 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 3005538 3005538 G A SNP TLE2 ENST00000262953 human ensembl 70_37 -1 known missense c.1793 p.S598F 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE2 HGNC TMEM135 65084 genome.wustl.edu 37 11 87020555 87020555 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 11 87020555 87020555 C G SNP TMEM135 ENST00000305494 human ensembl 70_37 +1 known missense c.777 p.I259M 1.000 NULL NULL - no_errors TMEM135 HGNC TMEM41B 440026 genome.wustl.edu 37 11 9335975 9335975 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 11 9335975 9335975 C G SNP TMEM41B ENST00000299596 human ensembl 70_37 -1 known missense c.14 p.R5T 0.993 NULL pfam_SNARE_assoc - no_errors TMEM41B HGNC TOM1 10043 genome.wustl.edu 37 22 35719506 35719506 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 22 35719506 35719506 C T SNP TOM1 ENST00000411850 human ensembl 70_37 +1 known silent c.384 p.F128 1.000 pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_VHS pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1 HGNC TOM1 10043 genome.wustl.edu 37 22 35719843 35719843 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 22 35719843 35719843 C T SNP TOM1 ENST00000411850 human ensembl 70_37 +1 known missense c.584 p.A195V 0.000 pirsf_TOM1 pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1 HGNC TOM1 10043 genome.wustl.edu 37 22 35719851 35719851 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 22 35719851 35719851 C T SNP TOM1 ENST00000411850 human ensembl 70_37 +1 known silent c.592 p.L198 0.532 pirsf_TOM1 pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1 HGNC TOPAZ1 375337 genome.wustl.edu 37 3 44283604 44283604 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 3 44283604 44283604 G A SNP TOPAZ1 ENST00000309765 human ensembl 70_37 +1 known missense c.59 p.R20Q 0.005 NULL NULL - no_errors TOPAZ1 HGNC TP53TG3B 729355 genome.wustl.edu 37 16 32264789 32264789 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 16 32264789 32264789 G C SNP TP53TG3B ENST00000354614 human ensembl 70_37 +1 known missense c.115 p.D39H 0.446 NULL NULL - no_errors TP53TG3 Uniprot_genename TP53TG5 27296 genome.wustl.edu 37 20 44002626 44002626 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 20 44002626 44002626 C G SNP TP53TG5 ENST00000372726 human ensembl 70_37 -1 known missense c.794 p.R265T 0.001 NULL NULL - no_errors TP53TG5 HGNC TREML2 79865 genome.wustl.edu 37 6 41162210 41162210 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 41162210 41162210 G A SNP TREML2 ENST00000483722 human ensembl 70_37 -1 known silent c.738 p.L246 0.002 NULL pfam_Ig_V-set,pfscan_Ig-like - no_errors TREML2 HGNC TRIM39 56658 genome.wustl.edu 37 6 30303588 30303588 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 30303588 30303588 G A SNP TRIM39 ENST00000376656 human ensembl 70_37 +1 known missense c.616 p.E206K 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM39 HGNC TROAP 10024 genome.wustl.edu 37 12 49717830 49717830 + Nonsense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 12 49717830 49717830 G A SNP TROAP ENST00000550709 human ensembl 70_37 +1 putative nonsense c.347 p.W116* 0.000 NULL NULL - no_errors TROAP HGNC TSR3 115939 genome.wustl.edu 37 16 1400917 1400917 + Silent SNP C C A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 16 1400917 1400917 C A SNP TSR3 ENST00000007390 human ensembl 70_37 -1 known silent c.417 p.G139 0.000 pfam_DUF367 pfam_DUF367,pfam_RNaseL-inhib_metal-bd_dom - no_errors TSR3 HGNC TTC21A 199223 genome.wustl.edu 37 3 39166554 39166554 + Missense_Mutation SNP G G T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 3 39166554 39166554 G T SNP TTC21A ENST00000301819 human ensembl 70_37 +1 known missense c.1118 p.G373V 1.000 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC TTN 7273 genome.wustl.edu 37 2 179451935 179451935 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 2 179451935 179451935 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.56299 p.E18767Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179460339 179460339 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 2 179460339 179460339 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.50038 p.L16680F 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TUBB 203068 genome.wustl.edu 37 6 30691295 30691295 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 6 30691295 30691295 C T SNP TUBB ENST00000327892 human ensembl 70_37 +1 known silent c.456 p.I152 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB HGNC UCKL1 54963 genome.wustl.edu 37 20 62572429 62572429 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 20 62572429 62572429 C T SNP UCKL1 ENST00000358711 human ensembl 70_37 -1 known missense c.1039 p.A347T 0.000 NULL pfam_PRK/URK,pfam_CPT,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCKL1 HGNC USH2A 7399 genome.wustl.edu 37 1 216138803 216138803 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 216138803 216138803 C G SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.6976 p.E2326Q 0.998 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC USO1 8615 genome.wustl.edu 37 4 76721919 76721919 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 4 76721919 76721919 C T SNP USO1 ENST00000538159 human ensembl 70_37 +1 known missense c.1858 p.H620Y 1.000 pfam_Vesicle_Uso1_P115_head,superfamily_ARM-type_fold pfam_Vesicle_Uso1_P115_head,pfam_Uso1_p115_C,superfamily_ARM-type_fold,superfamily_t-SNARE - no_errors USO1 HGNC USP29 57663 genome.wustl.edu 37 19 57641166 57641166 + Nonsense_Mutation SNP G G T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 57641166 57641166 G T SNP USP29 ENST00000254181 human ensembl 70_37 +1 known nonsense c.1123 p.E375* 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP29 HGNC USP29 57663 genome.wustl.edu 37 19 57641463 57641463 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 57641463 57641463 G C SNP USP29 ENST00000254181 human ensembl 70_37 +1 known missense c.1420 p.D474H 0.951 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP29 HGNC USP34 9736 genome.wustl.edu 37 2 61647956 61647956 + Missense_Mutation SNP T T C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 2 61647956 61647956 T C SNP USP34 ENST00000398571 human ensembl 70_37 -1 known missense c.56 p.E19G 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP34 HGNC VPS13A 23230 genome.wustl.edu 37 9 79980379 79980379 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 9 79980379 79980379 G A SNP VPS13A ENST00000360280 human ensembl 70_37 +1 known missense c.8215 p.E2739K 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC VTRNA2-1 100126299 genome.wustl.edu 37 5 135416214 135416214 + RNA SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 5 135416214 135416214 C T SNP VTRNA2-1 ENST00000365160 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors VTRNA2-1 HGNC WBSCR17 64409 genome.wustl.edu 37 7 70885922 70885922 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 7 70885922 70885922 G A SNP WBSCR17 ENST00000333538 human ensembl 70_37 +1 known missense c.793 p.E265K 1.000 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 WBSCR17 HGNC WDR64 128025 genome.wustl.edu 37 1 241904939 241904939 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 1 241904939 241904939 C T SNP WDR64 ENST00000366552 human ensembl 70_37 +1 known silent c.1413 p.L471 0.997 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR64 HGNC ZBED4 9889 genome.wustl.edu 37 22 50278464 50278464 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 22 50278464 50278464 C T SNP ZBED4 ENST00000216268 human ensembl 70_37 +1 known missense c.1154 p.S385L 0.170 NULL pfam_Znf_BED_prd,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED4 HGNC ZBTB6 10773 genome.wustl.edu 37 9 125673645 125673645 + Missense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 9 125673645 125673645 G A SNP ZBTB6 ENST00000373659 human ensembl 70_37 -1 known missense c.707 p.S236L 0.999 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB6 HGNC ZCCHC8 55596 genome.wustl.edu 37 12 122968017 122968017 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 12 122968017 122968017 C T SNP ZCCHC8 ENST00000336229 human ensembl 70_37 -1 known missense c.595 p.E199K 1.000 NULL pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC - no_errors ZCCHC8 HGNC ZFAND5 7763 genome.wustl.edu 37 9 74969854 74969854 + RNA SNP C C A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 9 74969854 74969854 C A SNP ZFAND5 ENST00000488164 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZFAND5 HGNC ZFAT 57623 genome.wustl.edu 37 8 135614806 135614806 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 8 135614806 135614806 C T SNP ZFAT ENST00000377838 human ensembl 70_37 -1 known missense c.1156 p.E386K 0.996 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ZNF157 7712 genome.wustl.edu 37 X 47270144 47270144 + Missense_Mutation SNP G G C TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c X 47270144 47270144 G C SNP ZNF157 ENST00000377073 human ensembl 70_37 +1 known missense c.265 p.E89Q 1.000 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF157 HGNC ZNF222 7673 genome.wustl.edu 37 19 44537136 44537136 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 44537136 44537136 C T SNP ZNF222 ENST00000391960 human ensembl 70_37 +1 known missense c.1429 p.R477C 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF222 HGNC ZNF335 63925 genome.wustl.edu 37 20 44577657 44577657 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 20 44577657 44577657 C T SNP ZNF335 ENST00000322927 human ensembl 70_37 -1 known missense c.3964 p.E1322K 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF335 HGNC ZNF433 163059 genome.wustl.edu 37 19 12127285 12127285 + Missense_Mutation SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 12127285 12127285 C G SNP ZNF433 ENST00000344980 human ensembl 70_37 -1 known missense c.397 p.E133Q 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF433 HGNC ZNF594 84622 genome.wustl.edu 37 17 5085838 5085838 + Nonsense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 17 5085838 5085838 G A SNP ZNF594 ENST00000399604 human ensembl 70_37 -1 known nonsense c.1714 p.Q572* 0.007 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF594 HGNC ZNF790 388536 genome.wustl.edu 37 19 37310810 37310810 + Missense_Mutation SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 19 37310810 37310810 C T SNP ZNF790 ENST00000356725 human ensembl 70_37 -1 known missense c.436 p.E146K 0.189 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF790 HGNC ZSWIM3 140831 genome.wustl.edu 37 20 44506247 44506247 + Silent SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 20 44506247 44506247 C G SNP ZSWIM3 ENST00000255152 human ensembl 70_37 +1 known silent c.1050 p.L350 0.999 NULL pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM - no_errors ZSWIM3 HGNC ZSWIM3 140831 genome.wustl.edu 37 20 44507087 44507087 + Silent SNP C C G TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 20 44507087 44507087 C G SNP ZSWIM3 ENST00000255152 human ensembl 70_37 +1 known silent c.1890 p.L630 0.491 NULL pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM - no_errors ZSWIM3 HGNC ZXDC 79364 genome.wustl.edu 37 3 126193878 126193878 + Silent SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3b5119-2267-4a8b-a4af-47af3471c597 c0518dec-272d-459f-a57b-10a2a577dc1c 3 126193878 126193878 G A SNP ZXDC ENST00000389709 human ensembl 70_37 -1 known silent c.831 p.F277 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDC HGNC