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 ABCC3 8714 genome.wustl.edu 37 17 48742570 48742570 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 17 48742570 48742570 C G SNP ABCC3 ENST00000502426 human ensembl 70_37 +1 known missense c.1450 p.Q484E 0.951 NULL NULL - no_errors ABCC3 HGNC ABL2 27 genome.wustl.edu 37 1 179077403 179077403 + Nonsense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 179077403 179077403 G C SNP ABL2 ENST00000502732 human ensembl 70_37 -1 known nonsense c.2999 p.S1000* 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL2 HGNC ADAMTS10 81794 genome.wustl.edu 37 19 8657677 8657677 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 19 8657677 8657677 C T SNP ADAMTS10 ENST00000270328 human ensembl 70_37 -1 known silent c.1557 p.T519 0.999 NULL pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ADAMTS14 140766 genome.wustl.edu 37 10 72517980 72517980 + Silent SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 10 72517980 72517980 G A SNP ADAMTS14 ENST00000373208 human ensembl 70_37 +1 known silent c.3126 p.T1042 0.007 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS14 HGNC ADC 0 genome.wustl.edu 37 1 33546851 33546851 + RNA SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 33546851 33546851 C T SNP ADC ENST00000462920 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ADC HGNC ADNP 23394 genome.wustl.edu 37 20 49508892 49508892 + Nonsense_Mutation SNP C C A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 20 49508892 49508892 C A SNP ADNP ENST00000349014 human ensembl 70_37 -1 known nonsense c.2359 p.E787* 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ADNP HGNC ADNP 23394 genome.wustl.edu 37 20 49509062 49509062 + Missense_Mutation SNP C C A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 20 49509062 49509062 C A SNP ADNP ENST00000349014 human ensembl 70_37 -1 known missense c.2189 p.R730L 0.974 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ADNP HGNC AHNAK2 113146 genome.wustl.edu 37 14 105408926 105408926 + Missense_Mutation SNP C C A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 14 105408926 105408926 C A SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known missense c.12862 p.D4288Y 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC AK9 221264 genome.wustl.edu 37 6 109837659 109837659 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 6 109837659 109837659 C G SNP AKD1 ENST00000424296 human ensembl 70_37 -1 known missense c.3820 p.D1274H 0.989 smart_AAA+_ATPase pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase - no_errors AKD1 HGNC ALDH1A2 8854 genome.wustl.edu 37 15 58284946 58284946 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 15 58284946 58284946 G C SNP ALDH1A2 ENST00000249750 human ensembl 70_37 -1 known missense c.755 p.S252C 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A2 HGNC ALOX5 240 genome.wustl.edu 37 10 45920431 45920431 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 10 45920431 45920431 G A SNP ALOX5 ENST00000374391 human ensembl 70_37 +1 known missense c.685 p.E229K 1.000 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 ALOX5 HGNC AMPD1 270 genome.wustl.edu 37 1 115231303 115231303 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 115231303 115231303 C T SNP AMPD1 ENST00000520113 human ensembl 70_37 -1 known missense c.193 p.E65K 1.000 pirsf_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD1 HGNC ANKHD1 54882 genome.wustl.edu 37 5 139908053 139908053 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 5 139908053 139908053 C T SNP ANKHD1 ENST00000297183 human ensembl 70_37 +1 known missense c.5522 p.S1841F 1.000 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ANKRD1 27063 genome.wustl.edu 37 10 92675933 92675933 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 10 92675933 92675933 C T SNP ANKRD1 ENST00000371697 human ensembl 70_37 -1 known missense c.646 p.D216N 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,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 ANKRD1 HGNC ANKRD24 170961 genome.wustl.edu 37 19 4216286 4216286 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 19 4216286 4216286 G A SNP ANKRD24 ENST00000318934 human ensembl 70_37 +1 known missense c.1276 p.E426K 0.820 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD24 HGNC ANKRD30A 91074 genome.wustl.edu 37 10 37442509 37442509 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 10 37442509 37442509 G A SNP ANKRD30A ENST00000361713 human ensembl 70_37 +1 known missense c.1549 p.E517K 0.009 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ANKRD44 91526 genome.wustl.edu 37 2 197870440 197870440 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 2 197870440 197870440 C T SNP ANKRD44 ENST00000328737 human ensembl 70_37 -1 known silent c.2250 p.P750 0.001 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ARF1 375 genome.wustl.edu 37 1 228285143 228285143 + Silent SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 228285143 228285143 G A SNP ARF1 ENST00000272102 human ensembl 70_37 +1 known silent c.249 p.Q83 1.000 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,tigrfam_Small_GTP-bd_dom 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 ARF1 HGNC ARSI 340075 genome.wustl.edu 37 5 149677811 149677811 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 5 149677811 149677811 G C SNP ARSI ENST00000328668 human ensembl 70_37 -1 known missense c.676 p.Q226E 0.999 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSI HGNC ASPM 259266 genome.wustl.edu 37 1 197073358 197073358 + Missense_Mutation SNP A A G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 197073358 197073358 A G SNP ASPM ENST00000367409 human ensembl 70_37 -1 known missense c.5023 p.F1675L 0.999 pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ASZ1 136991 genome.wustl.edu 37 7 117067509 117067509 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 7 117067509 117067509 C T SNP ASZ1 ENST00000284629 human ensembl 70_37 -1 known silent c.6 p.A2 0.958 NULL pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ASZ1 HGNC AZIN1 51582 genome.wustl.edu 37 8 103845404 103845404 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 8 103845404 103845404 C T SNP AZIN1 ENST00000337198 human ensembl 70_37 -1 known missense c.784 p.E262K 0.999 pfam_De-COase2_N,superfamily_Ala_racemase/Decarboxylase_C pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase - no_errors AZIN1 HGNC BACH1 571 genome.wustl.edu 37 21 30699110 30699110 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 21 30699110 30699110 C G SNP BACH1 ENST00000286800 human ensembl 70_37 +1 known missense c.965 p.S322C 0.024 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH1 HGNC BCAP29 55973 genome.wustl.edu 37 7 107254114 107254114 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 7 107254114 107254114 G A SNP BCAP29 ENST00000379119 human ensembl 70_37 +1 known missense c.706 p.E236K 0.002 NULL pfam_Bap31 - no_errors BCAP29 HGNC BEGAIN 57596 genome.wustl.edu 37 14 101012989 101012989 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 14 101012989 101012989 C T SNP BEGAIN ENST00000355173 human ensembl 70_37 -1 known missense c.25 p.E9K 1.000 superfamily_Prefoldin superfamily_Prefoldin - no_errors BEGAIN HGNC BTN2A3P 54718 genome.wustl.edu 37 6 26428906 26428906 + RNA SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 6 26428906 26428906 C T SNP BTN2A3P ENST00000465856 human ensembl 70_37 +1 known rna NULL NULL 0.095 - - - no_errors BTN2A3P HGNC C10orf12 26148 genome.wustl.edu 37 10 98741904 98741904 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 10 98741904 98741904 G A SNP C10orf12 ENST00000286067 human ensembl 70_37 +1 known missense c.757 p.D253N 1.000 NULL NULL - no_errors C10orf12 HGNC C12orf43 64897 genome.wustl.edu 37 12 121454196 121454196 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 12 121454196 121454196 C G SNP C12orf43 ENST00000288757 human ensembl 70_37 -1 known missense c.82 p.E28Q 0.999 NULL NULL - no_errors C12orf43 HGNC C12orf56 115749 genome.wustl.edu 37 12 64706454 64706454 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 12 64706454 64706454 C T SNP C12orf56 ENST00000543942 human ensembl 70_37 -1 putative silent c.969 p.K323 0.898 NULL NULL - no_errors C12orf56 HGNC C17orf96 100170841 genome.wustl.edu 37 17 36829966 36829966 + Missense_Mutation SNP G G T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 17 36829966 36829966 G T SNP C17orf96 ENST00000325814 human ensembl 70_37 -1 known missense c.783 p.F261L 0.822 NULL NULL - no_errors C17orf96 HGNC C2orf16 84226 genome.wustl.edu 37 2 27804570 27804570 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 2 27804570 27804570 C T SNP C2orf16 ENST00000408964 human ensembl 70_37 +1 known missense c.5131 p.H1711Y 0.003 NULL NULL - no_errors C2orf16 HGNC SMIM14 201895 genome.wustl.edu 37 4 39558162 39558162 + Nonsense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 4 39558162 39558162 G C SNP C4orf34 ENST00000507613 human ensembl 70_37 -1 known nonsense c.104 p.S35* 1.000 NULL pfam_Uncharacterised_CD034/YQF4 - no_errors C4orf34 HGNC C5orf64 285668 genome.wustl.edu 37 5 60982894 60982894 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 5 60982894 60982894 C G SNP C5orf64 ENST00000313303 human ensembl 70_37 +1 known missense c.222 p.F74L 0.000 NULL NULL - no_errors C5orf64 HGNC CABIN1 23523 genome.wustl.edu 37 22 24563133 24563133 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 22 24563133 24563133 G A SNP CABIN1 ENST00000263119 human ensembl 70_37 +1 known missense c.5534 p.R1845H 1.000 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC CABP2 51475 genome.wustl.edu 37 11 67287316 67287316 + Silent SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 11 67287316 67287316 G A SNP CABP2 ENST00000294288 human ensembl 70_37 -1 known silent c.585 p.D195 0.376 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CABP2 HGNC CABP4 57010 genome.wustl.edu 37 11 67225898 67225898 + Silent SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 11 67225898 67225898 G A SNP CABP4 ENST00000325656 human ensembl 70_37 +1 known silent c.708 p.P236 0.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CABP4 HGNC CCDC19 25790 genome.wustl.edu 37 1 159842990 159842990 + RNA SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 159842990 159842990 C T SNP CCDC19 ENST00000479861 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CCDC19 HGNC CCDC77 84318 genome.wustl.edu 37 12 539854 539854 + Nonsense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 12 539854 539854 C T SNP CCDC77 ENST00000239830 human ensembl 70_37 +1 known nonsense c.535 p.Q179* 0.013 NULL NULL - no_errors CCDC77 HGNC CCT3 7203 genome.wustl.edu 37 1 156290801 156290801 + Silent SNP G G T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 156290801 156290801 G T SNP CCT3 ENST00000295688 human ensembl 70_37 -1 known silent c.438 p.I146 0.119 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_gamma pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_gamma - no_errors CCT3 HGNC CD247 919 genome.wustl.edu 37 1 167404653 167404653 + Missense_Mutation SNP G G T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 167404653 167404653 G T SNP CD247 ENST00000362089 human ensembl 70_37 -1 known missense c.319 p.Q107K 0.220 NULL pfam_Phos_immunorcpt_sig_ITAM,pfam_CR3_zeta/IgE_Fc_rcpt_gamma,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM - no_errors CD247 HGNC CD3EAP 10849 genome.wustl.edu 37 19 45912270 45912270 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 19 45912270 45912270 G C SNP CD3EAP ENST00000589804 human ensembl 70_37 +1 known missense c.1050 p.E350D 0.002 NULL pfam_DNA-dir_RNA_pol1_su_RPA34 - no_errors CD3EAP HGNC CD70 970 genome.wustl.edu 37 19 6586411 6586411 + Nonsense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 19 6586411 6586411 G A SNP CD70 ENST00000245903 human ensembl 70_37 -1 known nonsense c.202 p.Q68* 0.084 superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF - no_errors CD70 HGNC CD72 971 genome.wustl.edu 37 9 35612927 35612927 + Nonsense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 9 35612927 35612927 G C SNP CD72 ENST00000259633 human ensembl 70_37 -1 known nonsense c.752 p.S251* 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CD72 HGNC CECR7 100130418 genome.wustl.edu 37 22 17525858 17525858 + RNA SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 22 17525858 17525858 G A SNP CECR7 ENST00000414401 human ensembl 70_37 +1 known rna NULL NULL 0.891 - - - no_errors CECR7 HGNC CEP350 9857 genome.wustl.edu 37 1 180053269 180053269 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 180053269 180053269 G C SNP CEP350 ENST00000367607 human ensembl 70_37 +1 known missense c.6241 p.E2081Q 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC COL19A1 1310 genome.wustl.edu 37 6 70851786 70851786 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 6 70851786 70851786 G C SNP COL19A1 ENST00000322773 human ensembl 70_37 +1 known missense c.1484 p.G495A 1.000 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC COL5A3 50509 genome.wustl.edu 37 19 10107297 10107297 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 19 10107297 10107297 C G SNP COL5A3 ENST00000264828 human ensembl 70_37 -1 known missense c.1332 p.M444I 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC COL6A1 1291 genome.wustl.edu 37 21 47423450 47423450 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 21 47423450 47423450 C T SNP COL6A1 ENST00000361866 human ensembl 70_37 +1 known silent c.2610 p.D870 0.001 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC COL7A1 1294 genome.wustl.edu 37 3 48601912 48601912 + RNA SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 3 48601912 48601912 C G SNP COL7A1 ENST00000470076 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors COL7A1 HGNC CORO1A 11151 genome.wustl.edu 37 16 30198163 30198163 + Silent SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 16 30198163 30198163 G C SNP CORO1A ENST00000219150 human ensembl 70_37 +1 known silent c.348 p.L116 0.598 pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1A HGNC CROCCP2 84809 genome.wustl.edu 37 1 16959769 16959769 + RNA SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 16959769 16959769 C G SNP CROCCP2 ENST00000362058 human ensembl 70_37 -1 known rna NULL NULL 0.992 - - - no_errors CROCCP2 HGNC CRY1 1407 genome.wustl.edu 37 12 107391306 107391306 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 12 107391306 107391306 C T SNP CRY1 ENST00000008527 human ensembl 70_37 -1 known missense c.1452 p.M484I 1.000 pfam_Photolyase_FAD-bd/Cryptochr_C,superfamily_Photolyase_FAD-bd/Cryptochr_C pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N - no_errors CRY1 HGNC CXorf67 340602 genome.wustl.edu 37 X 51151294 51151294 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea X 51151294 51151294 G A SNP CXorf67 ENST00000342995 human ensembl 70_37 +1 known missense c.1426 p.E476K 0.002 NULL NULL - no_errors CXorf67 HGNC DCAF12L1 139170 genome.wustl.edu 37 X 125685980 125685980 + Missense_Mutation SNP A A T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea X 125685980 125685980 A T SNP DCAF12L1 ENST00000371126 human ensembl 70_37 -1 known missense c.612 p.S204R 0.998 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC DDX23 9416 genome.wustl.edu 37 12 49229908 49229908 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 12 49229908 49229908 C T SNP DDX23 ENST00000308025 human ensembl 70_37 -1 known missense c.1378 p.D460N 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX23 HGNC DHTKD1 55526 genome.wustl.edu 37 10 12160859 12160859 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 10 12160859 12160859 C T SNP DHTKD1 ENST00000263035 human ensembl 70_37 +1 known silent c.2514 p.L838 1.000 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors DHTKD1 HGNC DLC1 10395 genome.wustl.edu 37 8 12950310 12950310 + Missense_Mutation SNP T T C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 8 12950310 12950310 T C SNP DLC1 ENST00000276297 human ensembl 70_37 -1 known missense c.3551 p.Q1184R 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors DLC1 HGNC DMKN 93099 genome.wustl.edu 37 19 36004044 36004044 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 19 36004044 36004044 C G SNP DMKN ENST00000339686 human ensembl 70_37 -1 known missense c.334 p.E112Q 0.709 NULL NULL - no_errors DMKN HGNC DNAH12 201625 genome.wustl.edu 37 3 57494205 57494205 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 3 57494205 57494205 G A SNP DNAH12 ENST00000351747 human ensembl 70_37 -1 known missense c.605 p.S202F 0.001 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH12 HGNC DNAH14 127602 genome.wustl.edu 37 1 225268252 225268252 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 225268252 225268252 G A SNP DNAH14 ENST00000430092 human ensembl 70_37 +1 known missense c.2938 p.E980K 0.462 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase - no_errors DNAH14 HGNC DNAJC14 85406 genome.wustl.edu 37 12 56215782 56215782 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 12 56215782 56215782 C T SNP DNAJC14 ENST00000317269 human ensembl 70_37 -1 known silent c.2088 p.V696 1.000 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC14 HGNC DOCK7 85440 genome.wustl.edu 37 1 62959997 62959997 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 62959997 62959997 C G SNP DOCK7 ENST00000251157 human ensembl 70_37 -1 known missense c.5139 p.L1713F 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC EBLN2 55096 genome.wustl.edu 37 3 73111492 73111492 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 3 73111492 73111492 C T SNP EBLN2 ENST00000533473 human ensembl 70_37 +1 known missense c.260 p.P87L 0.002 pfam_P40_nucleoprot_BD-vir,superfamily_P40_nucleoprot_BD-vir pfam_P40_nucleoprot_BD-vir,superfamily_P40_nucleoprot_BD-vir - no_errors EBLN2 HGNC ENSG00000221134 0 genome.wustl.edu 37 16 49713178 49713178 + RNA SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 16 49713178 49713178 C T SNP ENSG00000221134 ENST00000408207 human ensembl 70_37 +1 novel rna NULL NULL 0.002 - - - no_errors AC007339.1 Clone_based_ensembl_gene ENSG00000235381 0 genome.wustl.edu 37 6 155575490 155575490 + RNA SNP G G T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 6 155575490 155575490 G T SNP ENSG00000235381 ENST00000435295 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-477D19.2 Clone_based_vega_gene ENSG00000260628 0 genome.wustl.edu 37 16 32001717 32001717 + RNA SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 16 32001717 32001717 C G SNP ENSG00000260628 ENST00000568570 human ensembl 70_37 +1 known rna NULL NULL 0.996 - - - no_errors RP11-1166P10.1 Clone_based_vega_gene ERCC6L2 375748 genome.wustl.edu 37 9 98669408 98669408 + Nonsense_Mutation SNP G G T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 9 98669408 98669408 G T SNP ERCC6L2 ENST00000437817 human ensembl 70_37 +1 known nonsense c.109 p.E37* 1.000 pfam_SNF2_N,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L2 HGNC ERV3-1 2086 genome.wustl.edu 37 7 64466983 64466983 + RNA SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 7 64466983 64466983 G A SNP ERV3-1 ENST00000528878 human ensembl 70_37 -1 known rna NULL NULL 0.342 - - - no_errors ERV3-1 HGNC EXD1 161829 genome.wustl.edu 37 15 41476476 41476476 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 15 41476476 41476476 C T SNP EXD1 ENST00000314992 human ensembl 70_37 -1 known missense c.1198 p.E400K 0.003 NULL pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD1 HGNC EXD1 161829 genome.wustl.edu 37 15 41476477 41476477 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 15 41476477 41476477 C T SNP EXD1 ENST00000314992 human ensembl 70_37 -1 known silent c.1197 p.E399 0.001 NULL pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD1 HGNC FAM133A 286499 genome.wustl.edu 37 X 92964579 92964579 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea X 92964579 92964579 G A SNP FAM133A ENST00000322139 human ensembl 70_37 +1 known missense c.161 p.G54D 1.000 NULL NULL - no_errors FAM133A HGNC FAM209B 388799 genome.wustl.edu 37 20 55111363 55111363 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 20 55111363 55111363 G C SNP FAM209B ENST00000371325 human ensembl 70_37 +1 known missense c.385 p.E129Q 0.992 NULL NULL - no_errors FAM209B HGNC FAM83B 222584 genome.wustl.edu 37 6 54805040 54805040 + Missense_Mutation SNP G G T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 6 54805040 54805040 G T SNP FAM83B ENST00000306858 human ensembl 70_37 +1 known missense c.1271 p.S424I 1.000 NULL pfam_DUF1669 - no_errors FAM83B HGNC FAT1 2195 genome.wustl.edu 37 4 187525001 187525001 + Nonsense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 4 187525001 187525001 G C SNP FAT1 ENST00000441802 human ensembl 70_37 -1 known nonsense c.10679 p.S3560* 0.999 superfamily_Cadherin-like pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT1 HGNC FKBP4 2288 genome.wustl.edu 37 12 2909265 2909265 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 12 2909265 2909265 G C SNP FKBP4 ENST00000001008 human ensembl 70_37 +1 known missense c.823 p.E275Q 1.000 smart_TPR_repeat,pfscan_TPR_repeat pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP4 HGNC FKBP9 11328 genome.wustl.edu 37 7 33042416 33042416 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 7 33042416 33042416 G C SNP FKBP9 ENST00000538336 human ensembl 70_37 +1 known missense c.1660 p.D554H 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_PPIase_FKBP_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom - no_errors FKBP9 HGNC FLG 2312 genome.wustl.edu 37 1 152279239 152279239 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 152279239 152279239 G A SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.8123 p.S2708L 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC FLNC 2318 genome.wustl.edu 37 7 128486140 128486140 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 7 128486140 128486140 C T SNP FLNC ENST00000325888 human ensembl 70_37 +1 known missense c.3887 p.S1296L 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC FMN2 56776 genome.wustl.edu 37 1 240497525 240497525 + Missense_Mutation SNP G G T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 240497525 240497525 G T SNP FMN2 ENST00000319653 human ensembl 70_37 +1 known missense c.4761 p.L1587F 0.992 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC FREM2 341640 genome.wustl.edu 37 13 39264593 39264593 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 13 39264593 39264593 G A SNP FREM2 ENST00000280481 human ensembl 70_37 +1 known missense c.3112 p.D1038N 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC FYCO1 79443 genome.wustl.edu 37 3 45999964 45999964 + Missense_Mutation SNP G G T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 3 45999964 45999964 G T SNP FYCO1 ENST00000535325 human ensembl 70_37 -1 known missense c.3735 p.S1245R 1.000 NULL pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC FZD6 8323 genome.wustl.edu 37 8 104337017 104337017 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 8 104337017 104337017 G C SNP FZD6 ENST00000358755 human ensembl 70_37 +1 known missense c.683 p.R228T 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD6 HGNC GIP 2695 genome.wustl.edu 37 17 47044545 47044545 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 17 47044545 47044545 G A SNP GIP ENST00000357424 human ensembl 70_37 -1 known missense c.50 p.A17V 0.923 NULL pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP - no_errors GIP HGNC COLGALT2 23127 genome.wustl.edu 37 1 183914630 183914630 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 183914630 183914630 G A SNP GLT25D2 ENST00000361927 human ensembl 70_37 -1 known missense c.1205 p.S402F 1.000 pfam_Glyco_trans_25 pfam_Glyco_trans_25 - no_errors GLT25D2 HGNC GPR20 2843 genome.wustl.edu 37 8 142367933 142367933 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 8 142367933 142367933 C T SNP GPR20 ENST00000377741 human ensembl 70_37 -1 known missense c.91 p.E31K 0.809 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR20 HGNC GPR37 2861 genome.wustl.edu 37 7 124386638 124386638 + Missense_Mutation SNP G G T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 7 124386638 124386638 G T SNP GPR37 ENST00000303921 human ensembl 70_37 -1 known missense c.1783 p.P595T 0.999 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_rcpt,prints_GPCR_Rhodpsn - no_errors GPR37 HGNC GRIA2 2891 genome.wustl.edu 37 4 158242732 158242732 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 4 158242732 158242732 C T SNP GRIA2 ENST00000264426 human ensembl 70_37 +1 known missense c.863 p.A288V 1.000 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA2 HGNC GRIA3 2892 genome.wustl.edu 37 X 122319787 122319787 + Silent SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea X 122319787 122319787 G A SNP GRIA3 ENST00000264357 human ensembl 70_37 +1 known silent c.213 p.L71 1.000 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC HEXIM1 10614 genome.wustl.edu 37 17 43226812 43226812 + Silent SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 17 43226812 43226812 G C SNP HEXIM1 ENST00000332499 human ensembl 70_37 +1 known silent c.255 p.L85 0.705 NULL NULL - no_errors HEXIM1 HGNC HEXIM1 10614 genome.wustl.edu 37 17 43226833 43226833 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 17 43226833 43226833 G C SNP HEXIM1 ENST00000332499 human ensembl 70_37 +1 known missense c.276 p.Q92H 1.000 NULL NULL - no_errors HEXIM1 HGNC HIVEP2 3097 genome.wustl.edu 37 6 143092438 143092438 + Silent SNP C C A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 6 143092438 143092438 C A SNP HIVEP2 ENST00000012134 human ensembl 70_37 -1 known silent c.3438 p.L1146 0.067 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC HIVEP3 59269 genome.wustl.edu 37 1 42048469 42048469 + Nonsense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 42048469 42048469 G C SNP HIVEP3 ENST00000247584 human ensembl 70_37 -1 known nonsense c.2000 p.S667* 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC HNRNPR 10236 genome.wustl.edu 37 1 23667363 23667363 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 23667363 23667363 C G SNP HNRNPR ENST00000374616 human ensembl 70_37 -1 known missense c.139 p.D47H 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors HNRNPR HGNC HOXA4 3201 genome.wustl.edu 37 7 27169114 27169114 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 7 27169114 27169114 C T SNP HOXA4 ENST00000548581 human ensembl 70_37 -1 putative missense c.92 p.R31K 1.000 NULL NULL - no_errors HOXA4 HGNC HOXA4 3201 genome.wustl.edu 37 7 27169123 27169123 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 7 27169123 27169123 C G SNP HOXA4 ENST00000360046 human ensembl 70_37 -1 known missense c.684 p.L228F 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_antennapedia pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA4 HGNC IFT46 56912 genome.wustl.edu 37 11 118425278 118425278 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 11 118425278 118425278 C T SNP IFT46 ENST00000264020 human ensembl 70_37 -1 known missense c.532 p.D178N 1.000 pfam_Intraflagellar_transp_cmplxB pfam_Intraflagellar_transp_cmplxB - no_errors IFT46 HGNC IGLV4-3 28786 genome.wustl.edu 37 22 23213912 23213912 + Silent SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 22 23213912 23213912 G A SNP IGLV4-3 ENST00000390318 human ensembl 70_37 +1 known silent c.69 p.L23 0.197 pfam_Ig_V-set,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGLV4-3 HGNC IL12A 3592 genome.wustl.edu 37 3 159710811 159710811 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 3 159710811 159710811 C G SNP IL12A ENST00000305579 human ensembl 70_37 +1 known missense c.277 p.L93V 0.166 pfam_IL12,superfamily_4_helix_cytokine-like_core pfam_IL12,superfamily_4_helix_cytokine-like_core - no_errors IL12A HGNC IL6 3569 genome.wustl.edu 37 7 22769345 22769345 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 7 22769345 22769345 C G SNP IL6 ENST00000420258 human ensembl 70_37 +1 known missense c.699 p.D233E 0.000 smart_IL6_MGF_GCSF pfam_IL6_MGF_GCSF,superfamily_4_helix_cytokine-like_core,smart_IL6_MGF_GCSF,prints_Interleukin_6,prints_IL6_MGF_GCSF - no_errors IL6 HGNC INPPL1 3636 genome.wustl.edu 37 11 71944182 71944182 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 11 71944182 71944182 C G SNP INPPL1 ENST00000298229 human ensembl 70_37 +1 known missense c.2015 p.A672G 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC INTS1 26173 genome.wustl.edu 37 7 1542628 1542628 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 7 1542628 1542628 C T SNP INTS1 ENST00000389470 human ensembl 70_37 -1 known silent c.642 p.L214 1.000 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC IQCC 55721 genome.wustl.edu 37 1 32673549 32673549 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 32673549 32673549 C T SNP IQCC ENST00000537469 human ensembl 70_37 +1 known missense c.1507 p.H503Y 0.001 NULL pfscan_IQ_motif_EF-hand-BS - no_errors IQCC HGNC IQCF5-AS1 101928999 genome.wustl.edu 37 3 51908254 51908254 + RNA SNP G G T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 3 51908254 51908254 G T SNP IQCF5-AS1 ENST00000440723 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors IQCF5-AS1 HGNC JAK1 3716 genome.wustl.edu 37 1 65332599 65332599 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 65332599 65332599 C T SNP JAK1 ENST00000342505 human ensembl 70_37 -1 known missense c.940 p.E314K 1.000 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom - no_errors JAK1 HGNC KDM2A 22992 genome.wustl.edu 37 11 67017739 67017739 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 11 67017739 67017739 C G SNP KDM2A ENST00000529006 human ensembl 70_37 +1 known missense c.2238 p.S746R 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC KDM4C 23081 genome.wustl.edu 37 9 7103735 7103735 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 9 7103735 7103735 C T SNP KDM4C ENST00000536108 human ensembl 70_37 +1 known missense c.1823 p.S608F 1.000 NULL pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,pfscan_JmjC_dom - no_errors KDM4C HGNC KIAA0226L 80183 genome.wustl.edu 37 13 46923456 46923456 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 13 46923456 46923456 G C SNP KIAA0226L ENST00000389908 human ensembl 70_37 -1 known missense c.1596 p.I532M 1.000 NULL NULL - no_errors KIAA0226L HGNC KIAA2018 205717 genome.wustl.edu 37 3 113376217 113376217 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 3 113376217 113376217 G C SNP KIAA2018 ENST00000316407 human ensembl 70_37 -1 known missense c.4312 p.L1438V 0.905 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors KIAA2018 HGNC KNTC1 9735 genome.wustl.edu 37 12 123078898 123078898 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 12 123078898 123078898 G C SNP KNTC1 ENST00000333479 human ensembl 70_37 +1 known missense c.4321 p.D1441H 0.982 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC KSR1 8844 genome.wustl.edu 37 17 25932744 25932744 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 17 25932744 25932744 G C SNP KSR1 ENST00000319524 human ensembl 70_37 +1 known missense c.1965 p.K655N 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC KSR2 283455 genome.wustl.edu 37 12 117914376 117914376 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 12 117914376 117914376 C T SNP KSR2 ENST00000339824 human ensembl 70_37 -1 known silent c.2475 p.Q825 0.992 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors KSR2 HGNC LAIR1 3903 genome.wustl.edu 37 19 54868125 54868125 + Silent SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 19 54868125 54868125 G C SNP LAIR1 ENST00000391742 human ensembl 70_37 -1 known silent c.558 p.L186 0.102 NULL smart_Ig_sub - no_errors LAIR1 HGNC LARP4 113251 genome.wustl.edu 37 12 50860803 50860803 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 12 50860803 50860803 C T SNP LARP4 ENST00000429001 human ensembl 70_37 +1 known missense c.1463 p.S488L 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4 HGNC LATS1 9113 genome.wustl.edu 37 6 150004568 150004568 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 6 150004568 150004568 G C SNP LATS1 ENST00000253339 human ensembl 70_37 -1 known missense c.1657 p.Q553E 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors LATS1 HGNC LATS1 9113 genome.wustl.edu 37 6 150005605 150005605 + Nonsense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 6 150005605 150005605 G C SNP LATS1 ENST00000253339 human ensembl 70_37 -1 known nonsense c.620 p.S207* 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors LATS1 HGNC LENG8 114823 genome.wustl.edu 37 19 54969844 54969844 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 19 54969844 54969844 C T SNP LENG8 ENST00000431846 human ensembl 70_37 +1 putative missense c.2384 p.S795L 0.000 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors LENG8 HGNC LHX6 26468 genome.wustl.edu 37 9 124988717 124988717 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 9 124988717 124988717 C T SNP LHX6 ENST00000394319 human ensembl 70_37 -1 known silent c.399 p.L133 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LHX6 HGNC LINC00657 647979 genome.wustl.edu 37 20 34638451 34638451 + RNA SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 20 34638451 34638451 C T SNP LINC00657 ENST00000565493 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00657 HGNC LMF2 91289 genome.wustl.edu 37 22 50942059 50942059 + Nonsense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 22 50942059 50942059 G A SNP LMF2 ENST00000474879 human ensembl 70_37 -1 known nonsense c.1885 p.Q629* 0.917 NULL pfam_LMF - no_errors LMF2 HGNC LNX2 222484 genome.wustl.edu 37 13 28155748 28155748 + Nonsense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 13 28155748 28155748 C T SNP LNX2 ENST00000316334 human ensembl 70_37 -1 known nonsense c.93 p.W31* 1.000 NULL pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX2 HGNC LOC100996779 100996779 genome.wustl.edu 37 GL000219.1 79989 79989 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea GL000219.1 79989 79989 C G SNP LOC100996779 ENST00000418749 human ensembl 70_37 -1 known missense c.211 p.D71H NULL pfam_FRG1 pfam_FRG1,superfamily_Actin_cross-linking - no_errors AL592183.1 Clone_based_ensembl_gene LOC642423 642423 genome.wustl.edu 37 15 84873308 84873308 + RNA SNP T T C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 15 84873308 84873308 T C SNP LOC642423 ENST00000561015 human ensembl 70_37 -1 known rna NULL NULL 0.120 - - - no_errors AC103965.1 Clone_based_vega_gene LOC653160 653160 genome.wustl.edu 37 1 35442283 35442283 + RNA SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 35442283 35442283 C T SNP LOC653160 ENST00000311990 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-244H3.1 Clone_based_vega_gene LOC84856 84856 genome.wustl.edu 37 10 42971127 42971127 + RNA SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 10 42971127 42971127 G C SNP LOC84856 ENST00000332123 human ensembl 70_37 +1 known rna NULL NULL 0.158 - - - no_errors RP11-178A10.1 Clone_based_vega_gene LRP2 4036 genome.wustl.edu 37 2 170062614 170062614 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 2 170062614 170062614 G A SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known missense c.7475 p.S2492F 1.000 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC MAGEA8 4107 genome.wustl.edu 37 X 149013299 149013299 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea X 149013299 149013299 G A SNP MAGEA8 ENST00000286482 human ensembl 70_37 +1 known missense c.253 p.E85K 0.001 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA8 HGNC MAP3K9 4293 genome.wustl.edu 37 14 71199564 71199564 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 14 71199564 71199564 G C SNP MAP3K9 ENST00000555993 human ensembl 70_37 -1 known missense c.2564 p.S855C 0.998 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,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 MAP3K9 HGNC MED12 9968 genome.wustl.edu 37 X 70342457 70342457 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea X 70342457 70342457 G C SNP MED12 ENST00000333646 human ensembl 70_37 +1 known missense c.1348 p.G450R 1.000 pfam_Mediator_Med12_LCEWAV pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC MEGF11 84465 genome.wustl.edu 37 15 66262906 66262906 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 15 66262906 66262906 C G SNP MEGF11 ENST00000409699 human ensembl 70_37 -1 known missense c.884 p.G295A 1.000 pfam_EGF_laminin,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom pfam_EGF_laminin,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_EMI_domain - no_errors MEGF11 HGNC MIR2117 100313779 genome.wustl.edu 37 17 41522139 41522139 + RNA SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 17 41522139 41522139 G C SNP MIR2117 ENST00000588060 human ensembl 70_37 +1 known rna NULL NULL 0.351 - - - no_errors hsa-mir-2117 miRBase MPL 4352 genome.wustl.edu 37 1 43812572 43812572 + Silent SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 43812572 43812572 C G SNP MPL ENST00000372470 human ensembl 70_37 +1 known silent c.1275 p.L425 0.997 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors MPL HGNC MSH5 4439 genome.wustl.edu 37 6 31725965 31725965 + Silent SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 6 31725965 31725965 G C SNP MSH5 ENST00000375742 human ensembl 70_37 +1 known silent c.1089 p.L363 0.993 pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH5 HGNC MT-ND5 4540 genome.wustl.edu 37 MT 12925 12925 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea MT 12925 12925 G A SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known missense c.589 p.D197N NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC MTR 4548 genome.wustl.edu 37 1 236995308 236995309 + Frame_Shift_Ins INS - - CATTT TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 236995308 236995309 - CATTT INS MTR ENST00000366577 human ensembl 70_37 +1 known frame_shift_ins c.1118_1119 p.G375fs 1.000:1.000 pfam_Pterin-binding,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,pirsf_MetH,pfscan_Pterin-binding,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC MYT1L 23040 genome.wustl.edu 37 2 1915828 1915828 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 2 1915828 1915828 C T SNP MYT1L ENST00000399161 human ensembl 70_37 -1 known missense c.1673 p.R558H 1.000 pfam_Znf_C2HC pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC NAA40 79829 genome.wustl.edu 37 11 63706541 63706541 + RNA SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 11 63706541 63706541 G A SNP NAA40 ENST00000536939 human ensembl 70_37 +1 known rna NULL NULL 0.760 - - - no_errors NAA40 HGNC NALCN 259232 genome.wustl.edu 37 13 102047655 102047655 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 13 102047655 102047655 G A SNP NALCN ENST00000251127 human ensembl 70_37 -1 known missense c.170 p.T57M 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC NBEAL1 65065 genome.wustl.edu 37 2 203922058 203922058 + Frame_Shift_Del DEL A A - TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 2 203922058 203922058 A - DEL NBEAL1 ENST00000449802 human ensembl 70_37 +1 known frame_shift_del c.397 p.E136fs 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC NDUFB7 4713 genome.wustl.edu 37 19 14676998 14676998 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 19 14676998 14676998 C G SNP NDUFB7 ENST00000215565 human ensembl 70_37 -1 known missense c.361 p.E121Q 0.006 NULL pfam_NADH_UbQ_OxRdtase_B18_su - no_errors NDUFB7 HGNC NDUFV1 4723 genome.wustl.edu 37 11 67378577 67378577 + Nonsense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 11 67378577 67378577 C G SNP NDUFV1 ENST00000322776 human ensembl 70_37 +1 known nonsense c.812 p.S271* 1.000 tigrfam_NADH-UbQ_OxRdtase_suF pfam_NADH_UbQ_OxRdtase_51kDa_su,pfam_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,pfam_Soluble_ligand-bd,smart_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,tigrfam_NADH-UbQ_OxRdtase_suF - no_errors NDUFV1 HGNC NIN 51199 genome.wustl.edu 37 14 51221467 51221467 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 14 51221467 51221467 C G SNP NIN ENST00000245441 human ensembl 70_37 -1 known missense c.4657 p.E1553Q 1.000 NULL superfamily_tRNA-bd_arm,pfscan_EF_HAND_2 - no_errors NIN HGNC NIT1 4817 genome.wustl.edu 37 1 161090430 161090430 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 161090430 161090430 G C SNP NIT1 ENST00000368009 human ensembl 70_37 +1 known missense c.859 p.E287Q 1.000 superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors NIT1 HGNC NMI 9111 genome.wustl.edu 37 2 152132175 152132175 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 2 152132175 152132175 C G SNP NMI ENST00000243346 human ensembl 70_37 -1 known missense c.457 p.E153Q 0.035 pfam_Nmi/IFP35 pfam_Nmi/IFP35,pfam_Interferon_induced_35kDa_N - no_errors NMI HGNC NOL8 55035 genome.wustl.edu 37 9 95078028 95078028 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 9 95078028 95078028 C G SNP NOL8 ENST00000442668 human ensembl 70_37 -1 known missense c.879 p.K293N 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NOL8 HGNC NR2C1 7181 genome.wustl.edu 37 12 95434349 95434349 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 12 95434349 95434349 C T SNP NR2C1 ENST00000333003 human ensembl 70_37 -1 known missense c.1156 p.E386K 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd 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_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C1 HGNC OGG1 4968 genome.wustl.edu 37 3 9791867 9791867 + RNA SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 3 9791867 9791867 G C SNP OGG1 ENST00000436092 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors OGG1 HGNC OR52E2 119678 genome.wustl.edu 37 11 5080666 5080666 + Silent SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 11 5080666 5080666 G A SNP OR52E2 ENST00000321522 human ensembl 70_37 -1 known silent c.192 p.F64 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52E2 HGNC OSBPL5 114879 genome.wustl.edu 37 11 3128499 3128499 + Silent SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 11 3128499 3128499 C G SNP OSBPL5 ENST00000263650 human ensembl 70_37 -1 known silent c.1053 p.L351 0.448 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL5 HGNC PAFAH1B1 5048 genome.wustl.edu 37 17 2570453 2570453 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 17 2570453 2570453 C T SNP PAFAH1B1 ENST00000397195 human ensembl 70_37 +1 known silent c.360 p.F120 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Dynein_regulator,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pirsf_Dynein_regulator,prints_G-protein_beta_WD-40_rep,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PAFAH1B1 HGNC PAX4 5078 genome.wustl.edu 37 7 127255468 127255468 + Nonsense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 7 127255468 127255468 G C SNP PAX4 ENST00000341640 human ensembl 70_37 -1 known nonsense c.107 p.S36* 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom pfam_Paired_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX4 HGNC PCBP1 5093 genome.wustl.edu 37 2 70315274 70315274 + Silent SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 2 70315274 70315274 G A SNP PCBP1 ENST00000303577 human ensembl 70_37 +1 known silent c.399 p.V133 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP1 HGNC PCBP1-AS1 400960 genome.wustl.edu 37 2 70191430 70191430 + RNA SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 2 70191430 70191430 C T SNP PCBP1-AS1 ENST00000435880 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PCBP1-AS1 HGNC PCDHGA1 56114 genome.wustl.edu 37 5 140710615 140710615 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 5 140710615 140710615 G C SNP PCDHGA1 ENST00000517417 human ensembl 70_37 +1 known missense c.364 p.E122Q 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC PDPK1 5170 genome.wustl.edu 37 16 2607870 2607870 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 16 2607870 2607870 C T SNP PDPK1 ENST00000342085 human ensembl 70_37 +1 known missense c.191 p.S64F 0.275 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PDPK1 HGNC PKHD1L1 93035 genome.wustl.edu 37 8 110450559 110450559 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 8 110450559 110450559 G A SNP PKHD1L1 ENST00000378402 human ensembl 70_37 +1 known missense c.3634 p.E1212K 0.997 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC PKLR 5313 genome.wustl.edu 37 1 155270044 155270044 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 155270044 155270044 C G SNP PKLR ENST00000342741 human ensembl 70_37 -1 known missense c.128 p.S43T 0.960 NULL pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKLR HGNC PKP4 8502 genome.wustl.edu 37 2 159314798 159314798 + RNA SNP C C A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 2 159314798 159314798 C A SNP PKP4 ENST00000462335 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PKP4 HGNC TINCR 257000 genome.wustl.edu 37 19 5561091 5561091 + RNA SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 19 5561091 5561091 G C SNP PLAC2 ENST00000448587 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PLAC2 HGNC PLEC 5339 genome.wustl.edu 37 8 145002027 145002027 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 8 145002027 145002027 G C SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.3805 p.L1269V 0.951 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC PLEKHA4 57664 genome.wustl.edu 37 19 49351177 49351177 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 19 49351177 49351177 C T SNP PLEKHA4 ENST00000263265 human ensembl 70_37 -1 known missense c.1546 p.E516K 0.981 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA4 HGNC PLEKHO2 80301 genome.wustl.edu 37 15 65157665 65157665 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 15 65157665 65157665 G C SNP PLEKHO2 ENST00000323544 human ensembl 70_37 +1 known missense c.1051 p.E351Q 0.068 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHO2 HGNC PNPLA7 375775 genome.wustl.edu 37 9 140356868 140356868 + RNA SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 9 140356868 140356868 G A SNP PNPLA7 ENST00000492278 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PNPLA7 HGNC POLR1B 84172 genome.wustl.edu 37 2 113306925 113306925 + Missense_Mutation SNP G G T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 2 113306925 113306925 G T SNP POLR1B ENST00000541869 human ensembl 70_37 +1 known missense c.688 p.A230S 1.000 pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpa2-specific,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_5 - no_errors POLR1B HGNC POLR2J4 84820 genome.wustl.edu 37 7 44009353 44009353 + RNA SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 7 44009353 44009353 G A SNP POLR2J4 ENST00000427076 human ensembl 70_37 -1 known rna NULL NULL 0.965 - - - no_errors POLR2J4 HGNC PPM1E 22843 genome.wustl.edu 37 17 57057649 57057649 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 17 57057649 57057649 C G SNP PPM1E ENST00000308249 human ensembl 70_37 +1 known missense c.1525 p.Q509E 0.987 NULL pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1E HGNC PRAMEF2 65122 genome.wustl.edu 37 1 12918971 12918971 + Missense_Mutation SNP A A G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 12918971 12918971 A G SNP PRAMEF2 ENST00000240189 human ensembl 70_37 +1 known missense c.107 p.Y36C 0.000 NULL NULL - no_errors PRAMEF2 HGNC PRDM2 7799 genome.wustl.edu 37 1 14105740 14105740 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 14105740 14105740 C T SNP PRDM2 ENST00000235372 human ensembl 70_37 +1 known missense c.1450 p.P484S 1.000 smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_Znf_C2H2 pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC PRG4 10216 genome.wustl.edu 37 1 186276585 186276585 + Silent SNP A A C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 186276585 186276585 A C SNP PRG4 ENST00000445192 human ensembl 70_37 +1 known silent c.1734 p.P578 0.000 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors PRG4 HGNC PSIP1 11168 genome.wustl.edu 37 9 15486008 15486008 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 9 15486008 15486008 C T SNP PSIP1 ENST00000380733 human ensembl 70_37 -1 known missense c.452 p.R151K 1.000 NULL pfam_LEDGF,pfam_PWWP,smart_PWWP,pfscan_PWWP,prints_Treacle-like_TCS - no_errors PSIP1 HGNC RGAG1 57529 genome.wustl.edu 37 X 109697207 109697207 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea X 109697207 109697207 C T SNP RGAG1 ENST00000465301 human ensembl 70_37 +1 known missense c.3362 p.S1121L 0.036 NULL NULL - no_errors RGAG1 HGNC RGS14 10636 genome.wustl.edu 37 5 176797663 176797663 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 5 176797663 176797663 C G SNP RGS14 ENST00000408923 human ensembl 70_37 +1 known missense c.1125 p.F375L 1.000 pfam_Raf-like_ras-bd,smart_Raf-like_ras-bd,pfscan_Raf-like_ras-bd pfam_Raf-like_ras-bd,pfam_Regulat_G_prot_signal,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS14 HGNC RIOK1 83732 genome.wustl.edu 37 6 7414492 7414492 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 6 7414492 7414492 C G SNP RIOK1 ENST00000379834 human ensembl 70_37 +1 known missense c.1465 p.Q489E 0.006 pirsf_Ser/Thr_kinase_Rio1 pfam_RIO-like_kinase,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio1 - no_errors RIOK1 HGNC RMI1 80010 genome.wustl.edu 37 9 86617752 86617752 + Silent SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 9 86617752 86617752 G A SNP RMI1 ENST00000325875 human ensembl 70_37 +1 known silent c.1851 p.E617 0.816 NULL pfam_DUF1767 - no_errors RMI1 HGNC RNF185 91445 genome.wustl.edu 37 22 31592952 31592952 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 22 31592952 31592952 G C SNP RNF185 ENST00000326132 human ensembl 70_37 +1 known missense c.339 p.Q113H 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF185 HGNC SCAPER 49855 genome.wustl.edu 37 15 76866515 76866515 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 15 76866515 76866515 C G SNP SCAPER ENST00000324767 human ensembl 70_37 -1 known missense c.2822 p.R941T 1.000 NULL smart_Znf_U1 - no_errors SCAPER HGNC SEL1L3 23231 genome.wustl.edu 37 4 25806242 25806242 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 4 25806242 25806242 C T SNP SEL1L3 ENST00000399878 human ensembl 70_37 -1 known missense c.1697 p.C566Y 1.000 NULL pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like - no_errors SEL1L3 HGNC SI 6476 genome.wustl.edu 37 3 164757752 164757752 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 3 164757752 164757752 C T SNP SI ENST00000264382 human ensembl 70_37 -1 known missense c.2167 p.E723K 0.000 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors SI HGNC SIPA1L2 57568 genome.wustl.edu 37 1 232538176 232538176 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 232538176 232538176 C G SNP SIPA1L2 ENST00000262861 human ensembl 70_37 -1 known missense c.4984 p.E1662Q 1.000 pfam_DUF3401 pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L2 HGNC SLC10A3 8273 genome.wustl.edu 37 X 153717091 153717091 + Silent SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea X 153717091 153717091 G C SNP SLC10A3 ENST00000263512 human ensembl 70_37 -1 known silent c.189 p.G63 0.122 NULL pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A3 HGNC SLC10A4 201780 genome.wustl.edu 37 4 48490485 48490485 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 4 48490485 48490485 C G SNP SLC10A4 ENST00000273861 human ensembl 70_37 +1 known missense c.843 p.F281L 1.000 pfam_BilAc/Na_symport pfam_BilAc/Na_symport - no_errors SLC10A4 HGNC SLC24A2 25769 genome.wustl.edu 37 9 19786763 19786763 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 9 19786763 19786763 C T SNP SLC24A2 ENST00000341998 human ensembl 70_37 -1 known silent c.102 p.L34 0.998 NULL pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A2 HGNC SLC37A4 2542 genome.wustl.edu 37 11 118900036 118900036 + RNA SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 11 118900036 118900036 G A SNP SLC37A4 ENST00000330775 human ensembl 70_37 -1 known rna NULL NULL 0.292 - - - no_errors SLC37A4 HGNC SLFN13 146857 genome.wustl.edu 37 17 33767735 33767735 + Missense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 17 33767735 33767735 G A SNP SLFN13 ENST00000285013 human ensembl 70_37 -1 known missense c.2573 p.S858L 0.926 NULL pfam_ATPase_AAA-4,pfam_DUF2075 - no_errors SLFN13 HGNC SMC6 79677 genome.wustl.edu 37 2 17889941 17889941 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 2 17889941 17889941 C G SNP SMC6 ENST00000381272 human ensembl 70_37 -1 known missense c.1888 p.D630H 1.000 NULL NULL - no_errors SMC6 HGNC SPATA16 83893 genome.wustl.edu 37 3 172835168 172835168 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 3 172835168 172835168 C G SNP SPATA16 ENST00000351008 human ensembl 70_37 -1 known missense c.354 p.K118N 1.000 NULL NULL - no_errors SPATA16 HGNC SRPK2 6733 genome.wustl.edu 37 7 104844135 104844135 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 7 104844135 104844135 C G SNP SRPK2 ENST00000393651 human ensembl 70_37 -1 known missense c.169 p.E57Q 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors SRPK2 HGNC STAC2 342667 genome.wustl.edu 37 17 37368565 37368565 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 17 37368565 37368565 C G SNP STAC2 ENST00000333461 human ensembl 70_37 -1 known missense c.1216 p.D406H 0.997 superfamily_SH3_domain pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox - no_errors STAC2 HGNC STK39 27347 genome.wustl.edu 37 2 168811454 168811454 + RNA SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 2 168811454 168811454 G C SNP STK39 ENST00000487143 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors STK39 HGNC SVEP1 79987 genome.wustl.edu 37 9 113245917 113245917 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 9 113245917 113245917 C G SNP SVEP1 ENST00000401783 human ensembl 70_37 -1 known missense c.1987 p.E663Q 0.993 pfam_Hyalin,pfscan_Hyalin pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC SVIL 6840 genome.wustl.edu 37 10 29843751 29843751 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 10 29843751 29843751 G C SNP SVIL ENST00000355867 human ensembl 70_37 -1 known missense c.121 p.R41G 0.954 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece - no_errors SVIL HGNC TAF3 83860 genome.wustl.edu 37 10 8006430 8006430 + Silent SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 10 8006430 8006430 G A SNP TAF3 ENST00000344293 human ensembl 70_37 +1 known silent c.957 p.K319 0.893 NULL pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors TAF3 HGNC TAF6L 10629 genome.wustl.edu 37 11 62554674 62554674 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 11 62554674 62554674 C G SNP TAF6L ENST00000294168 human ensembl 70_37 +1 known missense c.1775 p.S592W 1.000 NULL pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd - no_errors TAF6L HGNC TATDN3 128387 genome.wustl.edu 37 1 212985578 212985578 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 212985578 212985578 C G SNP TATDN3 ENST00000531963 human ensembl 70_37 +1 putative missense c.610 p.L204V 0.275 pfam_TatD_family,pirsf_TatD_family pfam_TatD_family,pirsf_TatD_family - no_errors TATDN3 HGNC TBX18 9096 genome.wustl.edu 37 6 85473690 85473690 + Silent SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 6 85473690 85473690 G A SNP TBX18 ENST00000369663 human ensembl 70_37 -1 known silent c.210 p.D70 0.217 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX18 HGNC TDRD10 126668 genome.wustl.edu 37 1 154516982 154516982 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 154516982 154516982 C T SNP TDRD10 ENST00000368480 human ensembl 70_37 +1 known silent c.786 p.H262 0.018 pfam_Tudor pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TDRD10 HGNC TEP1 7011 genome.wustl.edu 37 14 20864069 20864069 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 14 20864069 20864069 G C SNP TEP1 ENST00000262715 human ensembl 70_37 -1 known missense c.1699 p.L567V 1.000 pfam_TROVE,pfscan_TROVE pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC TESK2 10420 genome.wustl.edu 37 1 45810904 45810904 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 45810904 45810904 C T SNP TESK2 ENST00000372086 human ensembl 70_37 -1 known missense c.1324 p.D442N 0.985 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 TESK2 HGNC THRA 7067 genome.wustl.edu 37 17 38249337 38249337 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 17 38249337 38249337 C T SNP THRA ENST00000264637 human ensembl 70_37 +1 known missense c.1175 p.S392L 1.000 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRA HGNC TOR1B 27348 genome.wustl.edu 37 9 132569559 132569559 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 9 132569559 132569559 C T SNP TOR1B ENST00000259339 human ensembl 70_37 +1 known silent c.558 p.I186 1.000 pfam_ATPase_AAA_core,pirsf_Torsin_subgr pfam_Torsin,pfam_ATPase_AAA_core,pirsf_Torsin_subgr - no_errors TOR1B HGNC TOR1B 27348 genome.wustl.edu 37 9 132569634 132569634 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 9 132569634 132569634 C T SNP TOR1B ENST00000259339 human ensembl 70_37 +1 known silent c.633 p.I211 1.000 pfam_ATPase_AAA_core,pirsf_Torsin_subgr pfam_Torsin,pfam_ATPase_AAA_core,pirsf_Torsin_subgr - no_errors TOR1B HGNC TRIM49 57093 genome.wustl.edu 37 11 89532887 89532887 + Nonsense_Mutation SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 11 89532887 89532887 G A SNP TRIM49 ENST00000329758 human ensembl 70_37 -1 known nonsense c.856 p.R286* 0.001 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM49 HGNC TRIP11 9321 genome.wustl.edu 37 14 92472576 92472576 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 14 92472576 92472576 C T SNP TRIP11 ENST00000267622 human ensembl 70_37 -1 known missense c.1744 p.E582K 0.910 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC TRPC4AP 26133 genome.wustl.edu 37 20 33591061 33591061 + Nonsense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 20 33591061 33591061 C T SNP TRPC4AP ENST00000252015 human ensembl 70_37 -1 known nonsense c.2282 p.W761* 1.000 NULL pfam_DUF3689 - no_errors TRPC4AP HGNC TSGA13 114960 genome.wustl.edu 37 7 130356546 130356546 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 7 130356546 130356546 G C SNP TSGA13 ENST00000356588 human ensembl 70_37 -1 known missense c.613 p.Q205E 0.994 NULL NULL - no_errors TSGA13 HGNC TUBBP1 92755 genome.wustl.edu 37 8 30209526 30209526 + RNA SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 8 30209526 30209526 G A SNP TUBBP1 ENST00000518096 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBBP1 HGNC TYRP1 7306 genome.wustl.edu 37 9 12694281 12694281 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 9 12694281 12694281 C T SNP TYRP1 ENST00000388918 human ensembl 70_37 +1 known silent c.285 p.F95 1.000 superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYRP1 HGNC UBFD1 56061 genome.wustl.edu 37 16 23570965 23570965 + Nonsense_Mutation SNP G G T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 16 23570965 23570965 G T SNP UBFD1 ENST00000219638 human ensembl 70_37 +1 known nonsense c.1204 p.E402* 1.000 NULL pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors UBFD1 HGNC UPF2 26019 genome.wustl.edu 37 10 12046574 12046574 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 10 12046574 12046574 C T SNP UPF2 ENST00000356352 human ensembl 70_37 -1 known missense c.1459 p.E487K 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC VCAN 1462 genome.wustl.edu 37 5 82818048 82818048 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 5 82818048 82818048 C G SNP VCAN ENST00000265077 human ensembl 70_37 +1 known missense c.3923 p.S1308C 0.760 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC VPS26A 9559 genome.wustl.edu 37 10 70883965 70883965 + RNA SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 10 70883965 70883965 G C SNP VPS26A ENST00000489656 human ensembl 70_37 +1 known rna NULL NULL 0.278 - - - no_errors VPS26A HGNC VWA5B1 127731 genome.wustl.edu 37 1 20675597 20675597 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 20675597 20675597 G C SNP VWA5B1 ENST00000375083 human ensembl 70_37 +1 known missense c.2882 p.R961T 0.008 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA5B1 HGNC WDFY4 57705 genome.wustl.edu 37 10 50004403 50004403 + Missense_Mutation SNP A A G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 10 50004403 50004403 A G SNP WDFY4 ENST00000325239 human ensembl 70_37 +1 known missense c.4318 p.I1440V 0.649 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC WDR48 57599 genome.wustl.edu 37 3 39136444 39136444 + RNA SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 3 39136444 39136444 G C SNP WDR48 ENST00000466405 human ensembl 70_37 +1 known rna NULL NULL 0.529 - - - no_errors WDR48 HGNC WDTC1 23038 genome.wustl.edu 37 1 27633122 27633122 + RNA DEL C C - TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 27633122 27633122 C - DEL WDTC1 ENST00000491239 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors WDTC1 HGNC XPO7 23039 genome.wustl.edu 37 8 21837640 21837640 + Missense_Mutation SNP T T C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 8 21837640 21837640 T C SNP XPO7 ENST00000434536 human ensembl 70_37 +1 known missense c.910 p.F304L 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO7 HGNC YIPF5 81555 genome.wustl.edu 37 5 143543784 143543785 + Frame_Shift_Ins INS - - T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 5 143543784 143543785 - T INS YIPF5 ENST00000274496 human ensembl 70_37 -1 known frame_shift_ins c.320_319 p.T107fs 1.000:1.000 pfam_Yip1 pfam_Yip1 - no_errors YIPF5 HGNC ZFHX2 85446 genome.wustl.edu 37 14 23992625 23992625 + Nonsense_Mutation SNP C C A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 14 23992625 23992625 C A SNP ZFHX2 ENST00000419474 human ensembl 70_37 -1 known nonsense c.6526 p.E2176* 1.000 smart_Znf_U1 pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX2 HGNC ZFHX2 85446 genome.wustl.edu 37 14 23993957 23993957 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 14 23993957 23993957 C G SNP ZFHX2 ENST00000419474 human ensembl 70_37 -1 known missense c.5194 p.E1732Q 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX2 HGNC ZNF385B 151126 genome.wustl.edu 37 2 180306848 180306848 + RNA SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 2 180306848 180306848 C T SNP ZNF385B ENST00000466398 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF385B HGNC ZNF423 23090 genome.wustl.edu 37 16 49671713 49671713 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 16 49671713 49671713 C T SNP ZNF423 ENST00000262383 human ensembl 70_37 -1 known missense c.1350 p.M450I 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ZNF48 197407 genome.wustl.edu 37 16 30409622 30409622 + Missense_Mutation SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 16 30409622 30409622 C T SNP ZNF48 ENST00000320159 human ensembl 70_37 +1 known missense c.1051 p.R351C 0.977 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF48 HGNC ZNF536 9745 genome.wustl.edu 37 19 30936388 30936388 + Missense_Mutation SNP T T C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 19 30936388 30936388 T C SNP ZNF536 ENST00000355537 human ensembl 70_37 +1 known missense c.1919 p.F640S 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ZNF548 147694 genome.wustl.edu 37 19 57911010 57911010 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 19 57911010 57911010 G C SNP ZNF548 ENST00000336128 human ensembl 70_37 +1 known missense c.1391 p.R464T 0.002 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF548 HGNC ZNF555 148254 genome.wustl.edu 37 19 2851618 2851618 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 19 2851618 2851618 G C SNP ZNF555 ENST00000334241 human ensembl 70_37 +1 known missense c.283 p.D95H 0.119 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 ZNF555 HGNC ZNF627 199692 genome.wustl.edu 37 19 11727567 11727567 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 19 11727567 11727567 C T SNP ZNF627 ENST00000361113 human ensembl 70_37 +1 known silent c.249 p.F83 0.547 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 ZNF627 HGNC ZNF766 90321 genome.wustl.edu 37 19 52794063 52794063 + Nonsense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 19 52794063 52794063 C G SNP ZNF766 ENST00000359102 human ensembl 70_37 +1 known nonsense c.1064 p.S355* 0.118 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF766 HGNC ZNF830 91603 genome.wustl.edu 37 17 33288933 33288933 + Silent SNP G G A TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 17 33288933 33288933 G A SNP ZNF830 ENST00000361952 human ensembl 70_37 +1 known silent c.348 p.A116 0.909 NULL smart_Znf_U1 - no_errors ZNF830 HGNC ZRANB2 9406 genome.wustl.edu 37 1 71535065 71535065 + RNA DEL T T - TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5dfbbeb7-8a28-4ce1-aead-6fcf508fd43c 09be50c4-0ffb-4335-a35d-d39c5b0177ea 1 71535065 71535065 T - DEL ZRANB2 ENST00000487510 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZRANB2 HGNC