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 ADAM21P1 145241 genome.wustl.edu 37 14 70713951 70713951 + RNA SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 14 70713951 70713951 G A SNP ADAM21P1 ENST00000530196 human ensembl 70_37 -1 known rna NULL NULL 0.732 - - - no_errors ADAM21P1 HGNC ADAMTS14 140766 genome.wustl.edu 37 10 72503424 72503424 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 10 72503424 72503424 G A SNP ADAMTS14 ENST00000373208 human ensembl 70_37 +1 known missense c.2054 p.R685H 0.994 prints_Peptidase_M12B_ADAM-TS 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 ALDH3A1 218 genome.wustl.edu 37 17 19642955 19642955 + Missense_Mutation SNP A A G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 17 19642955 19642955 A G SNP ALDH3A1 ENST00000225740 human ensembl 70_37 -1 known missense c.982 p.S328P 1.000 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3A1 HGNC ANKRD31 256006 genome.wustl.edu 37 5 74414077 74414077 + Missense_Mutation SNP C C G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 5 74414077 74414077 C G SNP ANKRD31 ENST00000274361 human ensembl 70_37 -1 known missense c.3751 p.D1251H 0.816 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 ANKRD31 HGNC ARHGEF11 9826 genome.wustl.edu 37 1 156948141 156948141 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 1 156948141 156948141 G A SNP ARHGEF11 ENST00000368194 human ensembl 70_37 -1 known missense c.365 p.S122F 1.000 superfamily_PDZ,smart_PDZ pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain - no_errors ARHGEF11 HGNC ASAH1 427 genome.wustl.edu 37 8 17916852 17916852 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 8 17916852 17916852 C T SNP ASAH1 ENST00000381733 human ensembl 70_37 -1 known missense c.1087 p.E363K 0.992 pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like - no_errors ASAH1 HGNC ATHL1 80162 genome.wustl.edu 37 11 290393 290393 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 11 290393 290393 C T SNP ATHL1 ENST00000409548 human ensembl 70_37 +1 known missense c.263 p.S88F 0.989 NULL pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like - no_errors ATHL1 HGNC ATRX 546 genome.wustl.edu 37 X 76776919 76776919 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 X 76776919 76776919 C T SNP ATRX ENST00000373344 human ensembl 70_37 -1 known missense c.7033 p.V2345M 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC AURKAIP1 54998 genome.wustl.edu 37 1 1310002 1310002 + RNA SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 1 1310002 1310002 C T SNP AURKAIP1 ENST00000489799 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors AURKAIP1 HGNC B4GALT7 11285 genome.wustl.edu 37 5 177035597 177035597 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 5 177035597 177035597 C T SNP B4GALT7 ENST00000029410 human ensembl 70_37 +1 known missense c.697 p.R233W 1.000 pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met - no_errors B4GALT7 HGNC BAIAP3 8938 genome.wustl.edu 37 16 1392188 1392188 + Missense_Mutation SNP C C G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 16 1392188 1392188 C G SNP BAIAP3 ENST00000324385 human ensembl 70_37 +1 known missense c.966 p.F322L 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors BAIAP3 HGNC BBS12 166379 genome.wustl.edu 37 4 123665085 123665085 + Missense_Mutation SNP G G T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 4 123665085 123665085 G T SNP BBS12 ENST00000314218 human ensembl 70_37 +1 known missense c.2038 p.V680L 0.999 superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 - no_errors BBS12 HGNC C15orf59 388135 genome.wustl.edu 37 15 74032525 74032525 + Silent SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 15 74032525 74032525 G A SNP C15orf59 ENST00000379822 human ensembl 70_37 -1 known silent c.615 p.D205 0.000 NULL superfamily_Polyketide_synth_docking - no_errors C15orf59 HGNC C19orf12 83636 genome.wustl.edu 37 19 30193594 30193594 + RNA SNP C C G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 19 30193594 30193594 C G SNP C19orf12 ENST00000392275 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C19orf12 HGNC C1orf173 127254 genome.wustl.edu 37 1 75055650 75055650 + Missense_Mutation SNP C C G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 1 75055650 75055650 C G SNP C1orf173 ENST00000326665 human ensembl 70_37 -1 known missense c.1841 p.S614T 0.006 NULL NULL - no_errors C1orf173 HGNC CACNG7 59284 genome.wustl.edu 37 19 54416107 54416107 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 19 54416107 54416107 G A SNP CACNG7 ENST00000222212 human ensembl 70_37 +1 known missense c.22 p.A8T 1.000 prints_VDCC_g7su pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su,prints_VDCC_gsu - no_errors CACNG7 HGNC CALHM1 255022 genome.wustl.edu 37 10 105215352 105215352 + Silent SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 10 105215352 105215352 C T SNP CALHM1 ENST00000329905 human ensembl 70_37 -1 known silent c.708 p.T236 0.078 NULL NULL - no_errors CALHM1 HGNC CAMK2D 817 genome.wustl.edu 37 4 114469863 114469863 + Missense_Mutation SNP C C G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 4 114469863 114469863 C G SNP CAMK2D ENST00000454265 human ensembl 70_37 -1 known missense c.364 p.E122Q 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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 CAMK2D HGNC CDC6 990 genome.wustl.edu 37 17 38457833 38457833 + Missense_Mutation SNP G G C TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 17 38457833 38457833 G C SNP CDC6 ENST00000209728 human ensembl 70_37 +1 known missense c.1566 p.K522N 1.000 pfam_Cdc6_C_dom,pirsf_Cell_div_Cdc6/18 pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,smart_AAA+_ATPase,pirsf_Cell_div_Cdc6/18 - no_errors CDC6 HGNC CHRNA9 55584 genome.wustl.edu 37 4 40351154 40351154 + Silent SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 4 40351154 40351154 C T SNP CHRNA9 ENST00000310169 human ensembl 70_37 +1 known silent c.621 p.G207 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA9 HGNC CHRNA9 55584 genome.wustl.edu 37 4 40351427 40351427 + Silent SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 4 40351427 40351427 G A SNP CHRNA9 ENST00000310169 human ensembl 70_37 +1 known silent c.894 p.L298 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA9 HGNC CLEC4M 10332 genome.wustl.edu 37 19 7831066 7831066 + Missense_Mutation SNP G G C TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 19 7831066 7831066 G C SNP CLEC4M ENST00000327325 human ensembl 70_37 +1 known missense c.757 p.E253Q 0.036 superfamily_C-type_lectin_fold pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4M HGNC CNN2 1265 genome.wustl.edu 37 19 1032654 1032654 + Missense_Mutation SNP A A G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 19 1032654 1032654 A G SNP CNN2 ENST00000263097 human ensembl 70_37 +1 known missense c.349 p.M117V 0.988 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,prints_Calponin pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin - no_errors CNN2 HGNC COL20A1 57642 genome.wustl.edu 37 20 61947915 61947915 + Silent SNP G G C TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 20 61947915 61947915 G C SNP COL20A1 ENST00000326996 human ensembl 70_37 +1 known silent c.2535 p.L845 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC COL27A1 85301 genome.wustl.edu 37 9 116999975 116999975 + Missense_Mutation SNP C C A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 9 116999975 116999975 C A SNP COL27A1 ENST00000356083 human ensembl 70_37 +1 known missense c.2707 p.P903T 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC COL9A2 1298 genome.wustl.edu 37 1 40777362 40777362 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 1 40777362 40777362 G A SNP COL9A2 ENST00000372748 human ensembl 70_37 -1 known missense c.443 p.S148L 0.995 pfam_Collagen pfam_Collagen - no_errors COL9A2 HGNC CPEB3 22849 genome.wustl.edu 37 10 93904785 93904785 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 10 93904785 93904785 G A SNP CPEB3 ENST00000265997 human ensembl 70_37 -1 known missense c.1280 p.P427L 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB3 HGNC CPVL 54504 genome.wustl.edu 37 7 29105687 29105687 + Silent SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 7 29105687 29105687 G A SNP CPVL ENST00000265394 human ensembl 70_37 -1 known silent c.915 p.F305 1.000 pfam_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors CPVL HGNC CYP27A1 1593 genome.wustl.edu 37 2 219679475 219679475 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 2 219679475 219679475 G A SNP CYP27A1 ENST00000258415 human ensembl 70_37 +1 known missense c.1471 p.A491T 0.739 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP27A1 HGNC DBIL5P 100131454 genome.wustl.edu 37 17 656677 656677 + RNA SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 17 656677 656677 G A SNP DBIL5P ENST00000536214 human ensembl 70_37 +1 known rna NULL NULL 0.965 - - - no_errors DBIL5P HGNC DCC 1630 genome.wustl.edu 37 18 50918205 50918205 + Missense_Mutation SNP G G T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 18 50918205 50918205 G T SNP DCC ENST00000442544 human ensembl 70_37 +1 known missense c.2636 p.R879L 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DCC HGNC DCHS2 54798 genome.wustl.edu 37 4 155254249 155254249 + Silent SNP G G C TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 4 155254249 155254249 G C SNP DCHS2 ENST00000357232 human ensembl 70_37 -1 known silent c.1614 p.L538 0.500 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC DCTN1 1639 genome.wustl.edu 37 2 74600065 74600065 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 2 74600065 74600065 C T SNP DCTN1 ENST00000361874 human ensembl 70_37 -1 known missense c.443 p.R148Q 1.000 NULL pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,pfscan_CAP-Gly_domain - no_errors DCTN1 HGNC DFNB31 25861 genome.wustl.edu 37 9 117266531 117266531 + Missense_Mutation SNP A A G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 9 117266531 117266531 A G SNP DFNB31 ENST00000362057 human ensembl 70_37 -1 known missense c.551 p.V184A 0.999 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC DIO3OS 64150 genome.wustl.edu 37 14 102026763 102026763 + RNA SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 14 102026763 102026763 G A SNP DIO3OS ENST00000557661 human ensembl 70_37 -1 known rna NULL NULL 0.937 - - - no_errors DIO3OS HGNC DLC1 10395 genome.wustl.edu 37 8 12946082 12946082 + Silent SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 8 12946082 12946082 G A SNP DLC1 ENST00000276297 human ensembl 70_37 -1 known silent c.4206 p.I1402 0.458 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd 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 DLG1 1739 genome.wustl.edu 37 3 196796113 196796113 + Missense_Mutation SNP G G T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 3 196796113 196796113 G T SNP DLG1 ENST00000346964 human ensembl 70_37 -1 known missense c.2123 p.A708D 1.000 superfamily_SH3_domain,pirsf_M-assoc_guanylate_kinase pfam_Guanylate_kin,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG1 HGNC DNAH14 127602 genome.wustl.edu 37 1 225332282 225332282 + Silent SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 1 225332282 225332282 C T SNP DNAH14 ENST00000430092 human ensembl 70_37 +1 known silent c.4641 p.A1547 0.939 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase - no_errors DNAH14 HGNC DNTT 1791 genome.wustl.edu 37 10 98080494 98080494 + Missense_Mutation SNP G G C TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 10 98080494 98080494 G C SNP DNTT ENST00000371174 human ensembl 70_37 +1 known missense c.627 p.K209N 0.998 superfamily_DNA-dir_DNA_pol_X_beta-like_N,smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase pfam_DNA_pol_lambd_fingers_domain,pfam_BRCT_dom,pfam_Nucleotidyltransferase,superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase,prints_DNA_pol_X,prints_DNA_pol_X_beta-like - no_errors DNTT HGNC EDIL3 10085 genome.wustl.edu 37 5 83549955 83549955 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 5 83549955 83549955 C T SNP EDIL3 ENST00000296591 human ensembl 70_37 -1 known missense c.143 p.C48Y 0.998 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors EDIL3 HGNC EIF3H 8667 genome.wustl.edu 37 8 117668117 117668117 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 8 117668117 117668117 C T SNP EIF3H ENST00000521861 human ensembl 70_37 -1 known missense c.685 p.E229K 1.000 NULL pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors EIF3H HGNC EIF6 3692 genome.wustl.edu 37 20 33867868 33867868 + Missense_Mutation SNP T T A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 20 33867868 33867868 T A SNP EIF6 ENST00000415116 human ensembl 70_37 -1 known missense c.542 p.Q181L 1.000 NULL NULL - no_errors EIF6 HGNC EMP3 2014 genome.wustl.edu 37 19 48830147 48830147 + Missense_Mutation SNP C C G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 19 48830147 48830147 C G SNP EMP3 ENST00000270221 human ensembl 70_37 +1 known missense c.46 p.L16V 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_EMP_3,prints_PMP22_EMP_MP20 - no_errors EMP3 HGNC ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 64859 64859 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 GL000212.1 64859 64859 C T SNP ENSG00000212857 ENST00000391545 human ensembl 70_37 +1 known missense c.608 p.S203L NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene EPPK1 83481 genome.wustl.edu 37 8 144943461 144943461 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 8 144943461 144943461 C T SNP EPPK1 ENST00000525985 human ensembl 70_37 -1 known missense c.3961 p.E1321K 0.978 smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ETFB 2109 genome.wustl.edu 37 19 51857609 51857609 + Missense_Mutation SNP G G T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 19 51857609 51857609 G T SNP ETFB ENST00000354232 human ensembl 70_37 -1 known missense c.284 p.S95Y 0.000 NULL pfam_ETF_a/b_N,smart_ETF_a/b_N - no_errors ETFB HGNC ETFDH 2110 genome.wustl.edu 37 4 159601633 159601633 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 4 159601633 159601633 C T SNP ETFDH ENST00000511912 human ensembl 70_37 +1 known missense c.49 p.H17Y 0.983 NULL pfam_ETFD_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Pyridine_nuc-diS_OxRdtase_2 - no_errors ETFDH HGNC EZH1 2145 genome.wustl.edu 37 17 40870628 40870628 + Missense_Mutation SNP C C G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 17 40870628 40870628 C G SNP EZH1 ENST00000428826 human ensembl 70_37 -1 known missense c.775 p.E259Q 1.000 smart_SANT/Myb pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH1 HGNC FAM171A1 221061 genome.wustl.edu 37 10 15255634 15255634 + Silent SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 10 15255634 15255634 C T SNP FAM171A1 ENST00000378116 human ensembl 70_37 -1 known silent c.1953 p.A651 0.472 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC FBXW7 55294 genome.wustl.edu 37 4 153253770 153253770 + Nonsense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 4 153253770 153253770 C T SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known nonsense c.963 p.W321* 1.000 pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC FBXW8 26259 genome.wustl.edu 37 12 117465245 117465245 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 12 117465245 117465245 G A SNP FBXW8 ENST00000309909 human ensembl 70_37 +1 known missense c.1588 p.A530T 0.999 NULL pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_Quinonprotein_ADH-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW8 HGNC FKBP2 2286 genome.wustl.edu 37 11 64011488 64011488 + Missense_Mutation SNP G G T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 11 64011488 64011488 G T SNP FKBP2 ENST00000309366 human ensembl 70_37 +1 known missense c.416 p.R139L 0.238 NULL pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP2 HGNC FLJ22184 80164 genome.wustl.edu 37 19 7935863 7935863 + Missense_Mutation SNP G G T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 19 7935863 7935863 G T SNP FLJ22184 ENST00000539422 human ensembl 70_37 -1 known missense c.2267 p.P756H 0.136 NULL NULL - no_errors FLJ22184 Uniprot_genename FLNC 2318 genome.wustl.edu 37 7 128483349 128483349 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 7 128483349 128483349 G A SNP FLNC ENST00000325888 human ensembl 70_37 +1 known missense c.2617 p.E873K 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 FREM3 166752 genome.wustl.edu 37 4 144619788 144619788 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 4 144619788 144619788 C T SNP FREM3 ENST00000329798 human ensembl 70_37 -1 putative missense c.2041 p.D681N 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC GALNT9 50614 genome.wustl.edu 37 12 132905692 132905692 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 12 132905692 132905692 C T SNP GALNT9 ENST00000328957 human ensembl 70_37 -1 known missense c.98 p.R33H 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT9 HGNC GBP2 2634 genome.wustl.edu 37 1 89582883 89582883 + Silent SNP A A T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 1 89582883 89582883 A T SNP GBP2 ENST00000370466 human ensembl 70_37 -1 known silent c.660 p.P220 0.001 pfam_Guanylate-bd_N pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C - no_errors GBP2 HGNC GRB10 2887 genome.wustl.edu 37 7 50673007 50673007 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 7 50673007 50673007 C T SNP GRB10 ENST00000398812 human ensembl 70_37 -1 known missense c.1369 p.E457K 1.000 pfam_BPS-dom pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB10 HGNC HECW1 23072 genome.wustl.edu 37 7 43447187 43447187 + Missense_Mutation SNP G G C TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 7 43447187 43447187 G C SNP HECW1 ENST00000395891 human ensembl 70_37 +1 known missense c.658 p.G220R 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW1 HGNC HHLA1 10086 genome.wustl.edu 37 8 133107823 133107823 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 8 133107823 133107823 C T SNP HHLA1 ENST00000414222 human ensembl 70_37 -1 known missense c.391 p.A131T 0.009 NULL NULL - no_errors HHLA1 HGNC HIST1H2AH 85235 genome.wustl.edu 37 6 27114916 27114916 + Silent SNP A A G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 6 27114916 27114916 A G SNP HIST1H2AH ENST00000377459 human ensembl 70_37 +1 known silent c.9 p.G3 0.994 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AH HGNC IBTK 25998 genome.wustl.edu 37 6 82950091 82950091 + Missense_Mutation SNP G G C TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 6 82950091 82950091 G C SNP IBTK ENST00000306270 human ensembl 70_37 -1 known missense c.113 p.S38C 1.000 NULL pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC IFT172 26160 genome.wustl.edu 37 2 27708261 27708261 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 2 27708261 27708261 C T SNP IFT172 ENST00000260570 human ensembl 70_37 -1 known missense c.149 p.R50K 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC IQCA1P1 392843 genome.wustl.edu 37 7 150900517 150900517 + RNA SNP C C G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 7 150900517 150900517 C G SNP IQCA1P1 ENST00000453127 human ensembl 70_37 -1 known rna NULL NULL 0.133 - - - no_errors IQCA1P1 HGNC ITIH5 80760 genome.wustl.edu 37 10 7679252 7679252 + Silent SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 10 7679252 7679252 G A SNP ITIH5 ENST00000256861 human ensembl 70_37 -1 known silent c.591 p.I197 0.049 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC JAK2 3717 genome.wustl.edu 37 9 5123048 5123048 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 9 5123048 5123048 C T SNP JAK2 ENST00000381652 human ensembl 70_37 +1 known missense c.3104 p.S1035L 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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK2 HGNC KCNH4 23415 genome.wustl.edu 37 17 40328267 40328267 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 17 40328267 40328267 C T SNP KCNH4 ENST00000264661 human ensembl 70_37 -1 known missense c.634 p.V212M 1.000 NULL pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC KRTAP12-4 386684 genome.wustl.edu 37 21 46074509 46074509 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 21 46074509 46074509 G A SNP KRTAP12-4 ENST00000391618 human ensembl 70_37 -1 known missense c.23 p.S8L 0.000 NULL NULL - no_errors KRTAP12-4 HGNC LAMA2 3908 genome.wustl.edu 37 6 129802568 129802568 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 6 129802568 129802568 G A SNP LAMA2 ENST00000421865 human ensembl 70_37 +1 known missense c.7733 p.R2578Q 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC LAMA5 3911 genome.wustl.edu 37 20 60928291 60928291 + Missense_Mutation SNP T T C TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 20 60928291 60928291 T C SNP LAMA5 ENST00000252999 human ensembl 70_37 -1 known missense c.467 p.Y156C 0.999 pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC LOC100132159 100132159 genome.wustl.edu 37 10 5557902 5557902 + RNA SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 10 5557902 5557902 G A SNP LOC100132159 ENST00000380330 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-116G8.4 Clone_based_vega_gene LOC100506157 100506157 genome.wustl.edu 37 14 35390099 35390099 + RNA SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 14 35390099 35390099 C T SNP LOC100506157 ENST00000556355 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-85K15.2 Clone_based_vega_gene LOC101060615 101060615 genome.wustl.edu 37 22 16157791 16157791 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 22 16157791 16157791 G A SNP LOC101060615 ENST00000383146 human ensembl 70_37 -1 known missense c.148 p.R50W 0.254 NULL NULL - no_errors AP000525.1 Clone_based_ensembl_gene LPAL2 80350 genome.wustl.edu 37 6 160932133 160932133 + RNA SNP C C G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 6 160932133 160932133 C G SNP LPAL2 ENST00000335388 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LPAL2 HGNC LPO 4025 genome.wustl.edu 37 17 56344897 56344897 + Silent SNP C C A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 17 56344897 56344897 C A SNP LPO ENST00000262290 human ensembl 70_37 +1 known silent c.1881 p.L627 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors LPO HGNC MAGEC3 139081 genome.wustl.edu 37 X 140969264 140969264 + Silent SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 X 140969264 140969264 C T SNP MAGEC3 ENST00000298296 human ensembl 70_37 +1 known silent c.591 p.L197 0.001 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC MAP1LC3A 84557 genome.wustl.edu 37 20 33147998 33147998 + RNA SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 20 33147998 33147998 G A SNP MAP1LC3A ENST00000476428 human ensembl 70_37 +1 known rna NULL NULL 0.962 - - - no_errors MAP1LC3A HGNC MAP3K10 4294 genome.wustl.edu 37 19 40711973 40711973 + Silent SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 19 40711973 40711973 G A SNP MAP3K10 ENST00000253055 human ensembl 70_37 +1 known silent c.1344 p.E448 1.000 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,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 MAP3K10 HGNC MAPK8IP2 23542 genome.wustl.edu 37 22 51041880 51041880 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 22 51041880 51041880 C T SNP MAPK8IP2 ENST00000329492 human ensembl 70_37 +1 known missense c.400 p.H134Y 0.999 NULL pfam_PTyr_interaction_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_SH3_domain - no_errors MAPK8IP2 HGNC MUC16 94025 genome.wustl.edu 37 19 9083358 9083358 + Silent SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 19 9083358 9083358 C T SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known silent c.8457 p.L2819 0.004 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC4 4585 genome.wustl.edu 37 3 195489068 195489068 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 3 195489068 195489068 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.14402 p.S4801L 0.530 pfam_VWF_type-D,smart_VWF_type-D pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC NEFM 4741 genome.wustl.edu 37 8 24771768 24771768 + Silent SNP C C A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 8 24771768 24771768 C A SNP NEFM ENST00000221166 human ensembl 70_37 +1 known silent c.462 p.I154 1.000 pfam_F pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC NPAS4 266743 genome.wustl.edu 37 11 66192248 66192248 + Missense_Mutation SNP G G T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 11 66192248 66192248 G T SNP NPAS4 ENST00000311034 human ensembl 70_37 +1 known missense c.1887 p.Q629H 0.634 NULL pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC NR2F1 7025 genome.wustl.edu 37 5 92929440 92929440 + Silent SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 5 92929440 92929440 C T SNP NR2F1 ENST00000327111 human ensembl 70_37 +1 known silent c.1164 p.L388 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_COUP_TF pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F1 HGNC NR2F2 7026 genome.wustl.edu 37 15 96880708 96880708 + Missense_Mutation SNP C C A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 15 96880708 96880708 C A SNP NR2F2 ENST00000394166 human ensembl 70_37 +1 known missense c.1102 p.P368T 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_COUP_TF,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F2 HGNC NRN1 51299 genome.wustl.edu 37 6 6002607 6002607 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 6 6002607 6002607 G A SNP NRN1 ENST00000244766 human ensembl 70_37 -1 known missense c.179 p.T60M 1.000 NULL NULL - no_errors NRN1 HGNC NUP188 23511 genome.wustl.edu 37 9 131768560 131768560 + Silent SNP C C G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 9 131768560 131768560 C G SNP NUP188 ENST00000372577 human ensembl 70_37 +1 known silent c.4986 p.L1662 1.000 NULL pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC NUP188 23511 genome.wustl.edu 37 9 131768567 131768567 + Nonsense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 9 131768567 131768567 C T SNP NUP188 ENST00000372577 human ensembl 70_37 +1 known nonsense c.4993 p.Q1665* 1.000 NULL pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC NUP98 4928 genome.wustl.edu 37 11 3740767 3740767 + Missense_Mutation SNP G G C TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 11 3740767 3740767 G C SNP NUP98 ENST00000324932 human ensembl 70_37 -1 known missense c.2274 p.I758M 1.000 pfam_Peptidase_S59,superfamily_Peptidase_S59 pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC OR4C11 219429 genome.wustl.edu 37 11 55371330 55371330 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 11 55371330 55371330 G A SNP OR4C11 ENST00000302231 human ensembl 70_37 -1 known missense c.520 p.H174Y 0.003 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C11 HGNC OR5H6 79295 genome.wustl.edu 37 3 97983729 97983729 + Silent SNP T T C TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 3 97983729 97983729 T C SNP OR5H6 ENST00000383696 human ensembl 70_37 +1 known silent c.601 p.L201 0.053 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H6 HGNC OSBPL5 114879 genome.wustl.edu 37 11 3124503 3124503 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 11 3124503 3124503 C T SNP OSBPL5 ENST00000263650 human ensembl 70_37 -1 known missense c.1292 p.R431Q 0.818 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL5 HGNC PARD3 56288 genome.wustl.edu 37 10 34400467 34400467 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 10 34400467 34400467 G A SNP PARD3 ENST00000374789 human ensembl 70_37 -1 known missense c.3701 p.S1234L 0.995 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC PCDH12 51294 genome.wustl.edu 37 5 141324975 141324975 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 5 141324975 141324975 C T SNP PCDH12 ENST00000231484 human ensembl 70_37 -1 known missense c.3526 p.G1176S 0.010 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC PCDH12 51294 genome.wustl.edu 37 5 141324976 141324976 + Missense_Mutation SNP T T G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 5 141324976 141324976 T G SNP PCDH12 ENST00000231484 human ensembl 70_37 -1 known missense c.3525 p.R1175S 0.004 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC PCDHA7 56141 genome.wustl.edu 37 5 140215295 140215295 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 5 140215295 140215295 G A SNP PCDHA7 ENST00000525929 human ensembl 70_37 +1 known missense c.1327 p.V443M 0.891 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA7 HGNC PGM3 5238 genome.wustl.edu 37 6 83898421 83898421 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 6 83898421 83898421 C T SNP PGM3 ENST00000513973 human ensembl 70_37 -1 known missense c.301 p.D101N 0.848 superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM - no_errors PGM3 HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PITPNM1 9600 genome.wustl.edu 37 11 67260519 67260519 + Silent SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 11 67260519 67260519 G A SNP PITPNM1 ENST00000356404 human ensembl 70_37 -1 known silent c.3357 p.I1119 1.000 pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2 pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC PLK1 5347 genome.wustl.edu 37 16 23695351 23695351 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 16 23695351 23695351 C T SNP PLK1 ENST00000300093 human ensembl 70_37 +1 known missense c.977 p.S326L 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_POLO_box_duplicated_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_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom - no_errors PLK1 HGNC PNLIPRP1 5407 genome.wustl.edu 37 10 118359565 118359565 + Missense_Mutation SNP G G T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 10 118359565 118359565 G T SNP PNLIPRP1 ENST00000358834 human ensembl 70_37 +1 known missense c.821 p.R274L 0.996 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_panc,prints_Lipase - no_errors PNLIPRP1 HGNC POLR2B 5431 genome.wustl.edu 37 4 57883348 57883348 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 4 57883348 57883348 C T SNP POLR2B ENST00000314595 human ensembl 70_37 +1 known missense c.2095 p.H699Y 1.000 pfam_RNA_pol_Rpb2_5 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5 - no_errors POLR2B HGNC POTEE 445582 genome.wustl.edu 37 2 131976213 131976213 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 2 131976213 131976213 G A SNP POTEE ENST00000356920 human ensembl 70_37 +1 known missense c.238 p.V80M 0.001 NULL pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like - no_errors POTEE Uniprot_genename PPP2R1A 5518 genome.wustl.edu 37 19 52723027 52723027 + Silent SNP G G C TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 19 52723027 52723027 G C SNP PPP2R1A ENST00000322088 human ensembl 70_37 +1 known silent c.1212 p.L404 1.000 superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1A HGNC RAD54L 8438 genome.wustl.edu 37 1 46714226 46714226 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 1 46714226 46714226 G A SNP RAD54L ENST00000371975 human ensembl 70_37 +1 known missense c.46 p.E16K 0.088 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_Rad54_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L HGNC RAPGEF1 2889 genome.wustl.edu 37 9 134458080 134458080 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 9 134458080 134458080 C T SNP RAPGEF1 ENST00000372190 human ensembl 70_37 -1 known missense c.2920 p.E974K 0.999 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF1 HGNC RASA2 5922 genome.wustl.edu 37 3 141291508 141291508 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 3 141291508 141291508 G A SNP RASA2 ENST00000452898 human ensembl 70_37 +1 known missense c.1227 p.M409I 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA2 HGNC RASIP1 54922 genome.wustl.edu 37 19 49230396 49230396 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 19 49230396 49230396 C T SNP RASIP1 ENST00000222145 human ensembl 70_37 -1 known missense c.1891 p.E631K 0.957 pfscan_Dilute pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc - no_errors RASIP1 HGNC RC3H2 54542 genome.wustl.edu 37 9 125617541 125617541 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 9 125617541 125617541 G A SNP RC3H2 ENST00000357244 human ensembl 70_37 -1 known missense c.2737 p.R913C 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC RPL4 6124 genome.wustl.edu 37 15 66793301 66793301 + Silent SNP G G C TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 15 66793301 66793301 G C SNP RPL4 ENST00000307961 human ensembl 70_37 -1 known silent c.819 p.L273 0.993 NULL pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom - no_errors RPL4 HGNC RSPRY1 89970 genome.wustl.edu 37 16 57264655 57264655 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 16 57264655 57264655 G A SNP RSPRY1 ENST00000394420 human ensembl 70_37 +1 known missense c.1306 p.E436K 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RSPRY1 HGNC SCARNA22 677770 genome.wustl.edu 37 4 1976411 1976411 + RNA SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 4 1976411 1976411 G A SNP SCARNA22 ENST00000503991 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SCARNA22 HGNC SETD2 29072 genome.wustl.edu 37 3 47125724 47125724 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 3 47125724 47125724 G A SNP SETD2 ENST00000409792 human ensembl 70_37 -1 known missense c.5546 p.S1849L 1.000 NULL pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RNR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP - no_errors SETD2 HGNC SF3B1 23451 genome.wustl.edu 37 2 198260882 198260882 + Missense_Mutation SNP C C G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 2 198260882 198260882 C G SNP SF3B1 ENST00000335508 human ensembl 70_37 -1 known missense c.3437 p.G1146A 1.000 superfamily_ARM-type_fold pfam_SF3b_su1,superfamily_ARM-type_fold - no_errors SF3B1 HGNC SF3B1 23451 genome.wustl.edu 37 2 198260896 198260896 + Silent SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 2 198260896 198260896 C T SNP SF3B1 ENST00000335508 human ensembl 70_37 -1 known silent c.3423 p.L1141 1.000 superfamily_ARM-type_fold pfam_SF3b_su1,superfamily_ARM-type_fold - no_errors SF3B1 HGNC SIGLEC8 27181 genome.wustl.edu 37 19 51961392 51961392 + Missense_Mutation SNP G G T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 19 51961392 51961392 G T SNP SIGLEC8 ENST00000321424 human ensembl 70_37 -1 known missense c.250 p.P84T 0.185 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC8 HGNC SIRPA 140885 genome.wustl.edu 37 20 1918151 1918151 + Silent SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 20 1918151 1918151 G A SNP SIRPA ENST00000400068 human ensembl 70_37 +1 known silent c.1464 p.Q488 0.015 NULL pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like - no_errors SIRPA HGNC SIRT4 23409 genome.wustl.edu 37 12 120741408 120741408 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 12 120741408 120741408 G A SNP SIRT4 ENST00000202967 human ensembl 70_37 +1 known missense c.44 p.R15H 0.000 NULL pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT4 HGNC SKIDA1 387640 genome.wustl.edu 37 10 21806653 21806653 + Silent SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 10 21806653 21806653 G A SNP SKIDA1 ENST00000449193 human ensembl 70_37 -1 known silent c.99 p.F33 1.000 pfam_Transform_Ski,superfamily_DNA-bd_dom_put pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors SKIDA1 HGNC SLC26A3 1811 genome.wustl.edu 37 7 107431574 107431574 + Silent SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 7 107431574 107431574 C T SNP SLC26A3 ENST00000340010 human ensembl 70_37 -1 known silent c.489 p.S163 0.000 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A3 HGNC SLC6A12 6539 genome.wustl.edu 37 12 318945 318945 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 12 318945 318945 C T SNP SLC6A12 ENST00000359674 human ensembl 70_37 -1 known missense c.208 p.G70R 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_betaine - no_errors SLC6A12 HGNC TBC1D9 23158 genome.wustl.edu 37 4 141590860 141590860 + Silent SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 4 141590860 141590860 G A SNP TBC1D9 ENST00000442267 human ensembl 70_37 -1 known silent c.1365 p.S455 0.588 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9 HGNC TEX13B 56156 genome.wustl.edu 37 X 107224920 107224920 + Silent SNP C C G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 X 107224920 107224920 C G SNP TEX13B ENST00000302917 human ensembl 70_37 -1 known silent c.438 p.L146 0.001 NULL NULL - no_errors TEX13B HGNC THSD7B 80731 genome.wustl.edu 37 2 138163340 138163340 + Missense_Mutation SNP C C A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 2 138163340 138163340 C A SNP THSD7B ENST00000272643 human ensembl 70_37 +1 known missense c.2658 p.N886K 0.012 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC TMEM178A 130733 genome.wustl.edu 37 2 39931262 39931262 + Nonsense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 2 39931262 39931262 C T SNP TMEM178A ENST00000281961 human ensembl 70_37 +1 known nonsense c.442 p.Q148* 1.000 NULL NULL - no_errors TMEM178A HGNC TMEM98 26022 genome.wustl.edu 37 17 31260324 31260324 + Splice_Site SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 17 31260324 31260324 G A SNP TMEM98 ENST00000394642 human ensembl 70_37 +1 known splice_site c.263+1 e2+1 1.000 - - - no_errors TMEM98 HGNC TTLL10-AS1 100506376 genome.wustl.edu 37 1 1111648 1111648 + RNA SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 1 1111648 1111648 G A SNP TTLL10-AS1 ENST00000379317 human ensembl 70_37 -1 known rna NULL NULL 0.857 - - - no_errors TTLL10-AS1 HGNC UBXN6 80700 genome.wustl.edu 37 19 4454023 4454023 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 19 4454023 4454023 C T SNP UBXN6 ENST00000301281 human ensembl 70_37 -1 known missense c.151 p.E51K 1.000 NULL pfam_PUB_domain,pfam_UBX,smart_PUG-dom,smart_UBX,pfscan_UBX - no_errors UBXN6 HGNC VCPIP1 80124 genome.wustl.edu 37 8 67547564 67547564 + Silent SNP G G T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 8 67547564 67547564 G T SNP VCPIP1 ENST00000310421 human ensembl 70_37 -1 known silent c.2841 p.G947 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC WDR6 11180 genome.wustl.edu 37 3 49049120 49049120 + Silent SNP G G C TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 3 49049120 49049120 G C SNP WDR6 ENST00000395474 human ensembl 70_37 +1 known silent c.243 p.R81 0.585 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ZBBX 79740 genome.wustl.edu 37 3 167086284 167086284 + Silent SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 3 167086284 167086284 G A SNP ZBBX ENST00000307529 human ensembl 70_37 -1 known silent c.147 p.F49 0.523 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ZFHX4 79776 genome.wustl.edu 37 8 77618364 77618364 + Missense_Mutation SNP C C G TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 8 77618364 77618364 C G SNP ZFHX4 ENST00000521891 human ensembl 70_37 +1 known missense c.2041 p.Q681E 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ZNF521 25925 genome.wustl.edu 37 18 22805688 22805688 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 18 22805688 22805688 C T SNP ZNF521 ENST00000361524 human ensembl 70_37 -1 known missense c.2194 p.D732N 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ZNF536 9745 genome.wustl.edu 37 19 30935236 30935236 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 19 30935236 30935236 C T SNP ZNF536 ENST00000355537 human ensembl 70_37 +1 known missense c.767 p.P256L 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ZNF774 342132 genome.wustl.edu 37 15 90903469 90903469 + Nonsense_Mutation SNP G G T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 15 90903469 90903469 G T SNP ZNF774 ENST00000354377 human ensembl 70_37 +1 known nonsense c.406 p.E136* 0.500 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF774 HGNC ZNF777 27153 genome.wustl.edu 37 7 149152526 149152526 + Silent SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 7 149152526 149152526 C T SNP ZNF777 ENST00000247930 human ensembl 70_37 -1 known silent c.588 p.E196 1.000 pfam_DUF3669_Znf pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF777 HGNC ZNF827 152485 genome.wustl.edu 37 4 146806944 146806944 + Missense_Mutation SNP C C T TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 4 146806944 146806944 C T SNP ZNF827 ENST00000508784 human ensembl 70_37 -1 known missense c.1633 p.A545T 0.988 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF827 HGNC ZNF99 7652 genome.wustl.edu 37 19 22939155 22939155 + Missense_Mutation SNP T T A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0cb0dca2-8294-42fe-aec0-02c8ce379e31 4a4cb3a4-1fce-481c-835b-786a236954d2 19 22939155 22939155 T A SNP ZNF99 ENST00000397104 human ensembl 70_37 -1 known missense c.2966 p.K989I 0.215 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 ZNF99 HGNC