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 ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF PALMD 0 genome.wustl.edu 37 1 100154805 100154805 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 100154805 100154805 G A SNP PALMD ENST00000263174 human ensembl 74_37 +1 known missense c.989 p.R330Q 0.746 NULL pfam_Paralemmin - no_errors PALMD HGNC ENSG00000099260 80 0 0 32 27 45.7627 AGL 0 genome.wustl.edu 37 1 100347173 100347173 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 100347173 100347173 C A SNP AGL ENST00000294724 human ensembl 74_37 +1 known missense c.2234 p.A745D 1.000 tigrfam_Glycogen_debranch_met pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met - no_errors AGL HGNC ENSG00000162688 177 0 0 101 34 25.1852 AGL 0 genome.wustl.edu 37 1 100378009 100378009 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 100378009 100378009 C T SNP AGL ENST00000294724 human ensembl 74_37 +1 known silent c.3885 p.R1295 0.924 pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,tigrfam_Glycogen_debranch_met pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met - no_errors AGL HGNC ENSG00000162688 79 0 0 57 20 25.974 AGL 0 genome.wustl.edu 37 1 100387188 100387188 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 100387188 100387188 A G SNP AGL ENST00000294724 human ensembl 74_37 +1 known missense c.4580 p.E1527G 1.000 pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,tigrfam_Glycogen_debranch_met pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met - no_errors AGL HGNC ENSG00000162688 78 0 0 48 16 25 DBT 0 genome.wustl.edu 37 1 100661908 100661908 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 100661908 100661908 T C SNP DBT ENST00000370132 human ensembl 74_37 -1 known missense c.1352 p.D451G 1.000 pfam_2-oxoacid_DH_actylTfrase pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl - no_errors DBT HGNC ENSG00000137992 141 0 0 78 33 29.7297 DBT 0 genome.wustl.edu 37 1 100684199 100684199 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 100684199 100684199 G A SNP DBT ENST00000370132 human ensembl 74_37 -1 known silent c.538 p.L180 1.000 pfam_E3-bd,superfamily_E3-bd pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl - no_errors DBT HGNC ENSG00000137992 208 0 0 118 33 21.8543 VCAM1 0 genome.wustl.edu 37 1 101200253 101200253 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 101200253 101200253 C T SNP VCAM1 ENST00000294728 human ensembl 74_37 +1 known missense c.1988 p.A663V 0.999 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_VCAM-1,prints_ICAM_VCAM_N - no_errors VCAM1 HGNC ENSG00000162692 112 0 0 60 13 17.8082 COL11A1 0 genome.wustl.edu 37 1 103540264 103540264 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 103540264 103540264 C T SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known silent c.561 p.T187 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 55 0 0 46 12 20.6897 COL11A1 0 genome.wustl.edu 37 1 103573670 103573670 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 103573670 103573670 A G SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.65 p.L22P 0.997 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 64 0 0 37 12 24.4898 RNPC3 0 genome.wustl.edu 37 1 104093657 104093657 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 104093657 104093657 G T SNP RNPC3 ENST00000423855 human ensembl 74_37 +1 known missense c.1456 p.A486S 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RNPC3 HGNC ENSG00000185946 31 0 0 18 8 30.7692 AMY2B 0 genome.wustl.edu 37 1 104114744 104114744 + Missense_Mutation SNP A A T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 104114744 104114744 A T SNP AMY2B ENST00000361355 human ensembl 74_37 +1 known missense c.181 p.N61Y 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ENSG00000240038 184 0 0 87 42 32.5581 PEX14 0 genome.wustl.edu 37 1 10690017 10690017 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 10690017 10690017 C T SNP PEX14 ENST00000356607 human ensembl 74_37 +1 known silent c.1107 p.G369 0.003 NULL pfam_Pex14_N - no_errors PEX14 HGNC ENSG00000142655 84 0 0 41 11 21.1538 CASZ1 0 genome.wustl.edu 37 1 10725587 10725587 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 10725587 10725587 C T SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known missense c.58 p.A20T 0.973 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 31 0 0 12 4 25 SCARNA2 0 genome.wustl.edu 37 1 109643110 109643110 + RNA SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 109643110 109643110 C T SNP SCARNA2 ENST00000458748 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors SCARNA2 HGNC ENSG00000270066 31 0 0 26 7 21.2121 CELSR2 0 genome.wustl.edu 37 1 109814954 109814954 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 109814954 109814954 G A SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.7981 p.D2661N 1.000 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 314 0 0 128 56 30.4348 RBM15 0 genome.wustl.edu 37 1 110884271 110884271 + Silent SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 110884271 110884271 C A SNP RBM15 ENST00000369784 human ensembl 74_37 +1 known silent c.2244 p.R748 0.001 NULL pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15 HGNC ENSG00000162775 174 0 0 62 34 35.4167 MTOR 0 genome.wustl.edu 37 1 11175526 11175526 + Splice_Site SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 11175526 11175526 C A SNP MTOR ENST00000361445 human ensembl 74_37 -1 known splice_site c.7017-1 e50-1 1.000 - - - no_errors MTOR HGNC ENSG00000198793 142 0 0 80 25 23.8095 KCND3 0 genome.wustl.edu 37 1 112321089 112321089 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 112321089 112321089 G T SNP KCND3 ENST00000315987 human ensembl 74_37 -1 known missense c.1487 p.P496H 1.000 pfam_K_chnl_volt-dep_Kv4_C pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND3 HGNC ENSG00000171385 136 0 0 64 22 25.5814 HIPK1 0 genome.wustl.edu 37 1 114512812 114512812 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 114512812 114512812 G T SNP HIPK1 ENST00000369558 human ensembl 74_37 +1 known missense c.3006 p.Q1002H 1.000 NULL pfam_Prot_kinase_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_dom - no_errors HIPK1 HGNC ENSG00000163349 102 0 0 50 22 30.5556 HIPK1 0 genome.wustl.edu 37 1 114515787 114515787 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 114515787 114515787 C A SNP HIPK1 ENST00000369558 human ensembl 74_37 +1 known missense c.3286 p.P1096T 1.000 NULL pfam_Prot_kinase_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_dom - no_errors HIPK1 HGNC ENSG00000163349 243 1 0.409836 128 35 21.4724 ADAM30 0 genome.wustl.edu 37 1 120438692 120438692 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 120438692 120438692 C T SNP ADAM30 ENST00000369400 human ensembl 74_37 -1 known missense c.268 p.V90I 0.007 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM30 HGNC ENSG00000134249 102 0 0 54 16 22.8571 NOTCH2 0 genome.wustl.edu 37 1 120458008 120458008 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 120458008 120458008 C A SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known missense c.7337 p.G2446V 1.000 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 177 0 0 103 23 18.254 NOTCH2 0 genome.wustl.edu 37 1 120479990 120479990 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 120479990 120479990 C T SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known missense c.3437 p.C1146Y 1.000 pirsf_Notch,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 134 0 0 72 34 32.0755 NOTCH2 0 genome.wustl.edu 37 1 120510772 120510772 + Nonsense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 120510772 120510772 G A SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known nonsense c.1192 p.Q398* 0.988 pirsf_Notch,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 76 0 0 52 11 17.4603 MFN2 0 genome.wustl.edu 37 1 12059139 12059139 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 12059139 12059139 A C SNP MFN2 ENST00000235329 human ensembl 74_37 +1 known missense c.803 p.E268A 1.000 superfamily_P-loop_NTPase pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN2 HGNC ENSG00000116688 132 0 0 67 25 27.1739 HIST2H2BA 0 genome.wustl.edu 37 1 120906047 120906047 + RNA SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 120906047 120906047 C T SNP HIST2H2BA ENST00000430394 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HIST2H2BA HGNC ENSG00000223345 100 0 0 69 19 21.5909 TNFRSF1B 0 genome.wustl.edu 37 1 12262149 12262149 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 12262149 12262149 G A SNP TNFRSF1B ENST00000376259 human ensembl 74_37 +1 known silent c.1026 p.A342 0.000 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1B - no_errors TNFRSF1B HGNC ENSG00000028137 9 0 0 9 7 43.75 PRAMEF11 0 genome.wustl.edu 37 1 12887509 12887509 + Missense_Mutation SNP C C G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 12887509 12887509 C G SNP PRAMEF11 ENST00000535591 human ensembl 74_37 -1 known missense c.348 p.K116N 0.000 NULL NULL - no_errors PRAMEF11 HGNC ENSG00000204513 573 0 0 290 91 23.8845 PRAMEF2 0 genome.wustl.edu 37 1 12919145 12919145 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 12919145 12919145 G A SNP PRAMEF2 ENST00000240189 human ensembl 74_37 +1 known missense c.281 p.R94H 0.059 NULL NULL - no_errors PRAMEF2 HGNC ENSG00000120952 509 0 0 317 76 19.3384 PRDM2 0 genome.wustl.edu 37 1 14107751 14107751 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 14107751 14107751 C A SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known missense c.3461 p.S1154Y 0.846 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 ENSG00000116731 146 0 0 72 32 30.7692 LOC101927345 0 genome.wustl.edu 37 1 143391692 143391692 + RNA SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 143391692 143391692 T C SNP LOC101927345 ENST00000412492 human ensembl 74_37 +1 known rna NULL NULL 0.913 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 42 0 0 11 5 31.25 ITGA10 0 genome.wustl.edu 37 1 145532147 145532147 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 145532147 145532147 G A SNP ITGA10 ENST00000369304 human ensembl 74_37 +1 known missense c.791 p.R264Q 0.898 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA10 HGNC ENSG00000143127 178 1 0.558659 92 38 29.2308 POLR3C 0 genome.wustl.edu 37 1 145594051 145594051 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 145594051 145594051 C T SNP POLR3C ENST00000334163 human ensembl 74_37 -1 known missense c.1511 p.R504H 0.990 NULL pfam_RNA_pol_III_Rpc82_C,pfam_RNA_pol_III_RPC82-rel_HTH - no_errors POLR3C HGNC ENSG00000186141 273 0 0 152 48 24 NBPF14 0 genome.wustl.edu 37 1 148015781 148015781 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 148015781 148015781 G A SNP NBPF14 ENST00000369219 human ensembl 74_37 -1 known silent c.850 p.L284 0.178 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF14 HGNC ENSG00000122497 173 0 0 102 14 12.069 LOC100293748 0 genome.wustl.edu 37 1 149262430 149262430 + RNA SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 149262430 149262430 G A SNP LOC100293748 ENST00000325963 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-403I13.4 Clone_based_vega_gene ENSG00000223779 98 0 0 50 19 27.5362 VPS45 0 genome.wustl.edu 37 1 150049303 150049303 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 150049303 150049303 C T SNP VPS45 ENST00000369130 human ensembl 74_37 +1 known silent c.570 p.C190 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS45 HGNC ENSG00000136631 168 0 0 78 32 29.0909 PLEKHO1 0 genome.wustl.edu 37 1 150131688 150131688 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 150131688 150131688 G A SNP PLEKHO1 ENST00000025469 human ensembl 74_37 +1 known silent c.1098 p.P366 0.229 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHO1 HGNC ENSG00000023902 31 0 0 28 7 20 APH1A 0 genome.wustl.edu 37 1 150239732 150239732 + RNA SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 150239732 150239732 G A SNP APH1A ENST00000486308 human ensembl 74_37 -1 known rna NULL NULL 0.020 - - - no_errors APH1A HGNC ENSG00000117362 74 0 0 39 6 13.3333 C1orf51 0 genome.wustl.edu 37 1 150259051 150259051 + Silent SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 150259051 150259051 T C SNP C1orf51 ENST00000290363 human ensembl 74_37 +1 known silent c.843 p.H281 0.989 NULL NULL - no_errors C1orf51 HGNC ENSG00000159208 210 0 0 146 8 5.19481 ADAMTSL4 0 genome.wustl.edu 37 1 150530584 150530584 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 150530584 150530584 C T SNP ADAMTSL4 ENST00000369039 human ensembl 74_37 +1 known missense c.2410 p.R804C 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ENSG00000143382 269 1 0.37037 131 46 25.9887 POGZ 0 genome.wustl.edu 37 1 151378679 151378679 + Missense_Mutation SNP A A T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 151378679 151378679 A T SNP POGZ ENST00000271715 human ensembl 74_37 -1 known missense c.2832 p.D944E 0.940 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 176 0 0 115 12 9.44882 FLG 0 genome.wustl.edu 37 1 152279615 152279615 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 152279615 152279615 A G SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.7747 p.W2583R 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 304 0 0 225 13 5.46218 FLG 0 genome.wustl.edu 37 1 152279744 152279744 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 152279744 152279744 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.7618 p.R2540W 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 583 0 0 444 53 10.664 FLG 0 genome.wustl.edu 37 1 152279848 152279848 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 152279848 152279848 T C SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.7514 p.H2505R 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 609 0 0 501 67 11.7958 LCE3D 0 genome.wustl.edu 37 1 152552263 152552263 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 152552263 152552263 G A SNP LCE3D ENST00000368787 human ensembl 74_37 -1 known silent c.150 p.G50 0.090 NULL NULL - no_errors LCE3D HGNC ENSG00000163202 140 0 0 65 20 23.5294 KPRP 0 genome.wustl.edu 37 1 152733277 152733277 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 152733277 152733277 C T SNP KPRP ENST00000368773 human ensembl 74_37 +1 known missense c.1213 p.R405C 0.004 NULL NULL - no_errors KPRP HGNC ENSG00000203786 102 0 0 52 22 29.7297 KAZN 0 genome.wustl.edu 37 1 15390070 15390070 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 15390070 15390070 C T SNP KAZN ENST00000376030 human ensembl 74_37 +1 known silent c.1050 p.G350 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors KAZN HGNC ENSG00000189337 71 0 0 32 9 21.9512 AQP10 0 genome.wustl.edu 37 1 154295722 154295722 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 154295722 154295722 C A SNP AQP10 ENST00000324978 human ensembl 74_37 +1 known missense c.376 p.L126I 0.997 pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_10,prints_Aquaporin_3,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_10,prints_Aquaporin_3,tigrfam_MIP - no_errors AQP10 HGNC ENSG00000143595 192 0 0 84 35 29.4118 TDRD10 0 genome.wustl.edu 37 1 154517360 154517360 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 154517360 154517360 G A SNP TDRD10 ENST00000368480 human ensembl 74_37 +1 known missense c.887 p.R296H 0.070 pfam_Tudor pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TDRD10 HGNC ENSG00000163239 109 0 0 52 15 22.3881 FDPS 0 genome.wustl.edu 37 1 155290383 155290383 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 155290383 155290383 T C SNP FDPS ENST00000356657 human ensembl 74_37 +1 known missense c.1243 p.Y415H 1.000 superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors FDPS HGNC ENSG00000160752 78 0 0 42 23 35.3846 ASH1L 0 genome.wustl.edu 37 1 155450513 155450513 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 155450513 155450513 T G SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.2148 p.K716N 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 91 0 0 45 18 28.5714 MEX3A 0 genome.wustl.edu 37 1 156046580 156046580 + Nonsense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 156046580 156046580 G A SNP MEX3A ENST00000532414 human ensembl 74_37 -1 known nonsense c.1348 p.Q450* 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3A HGNC ENSG00000254726 12 0 0 6 3 33.3333 SMG5 0 genome.wustl.edu 37 1 156222250 156222250 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 156222250 156222250 C T SNP SMG5 ENST00000361813 human ensembl 74_37 -1 known missense c.2708 p.R903Q 1.000 smart_PIN_dom pfam_EST1,smart_PIN_dom - no_errors SMG5 HGNC ENSG00000198952 131 0 0 56 15 21.1268 ARHGEF11 0 genome.wustl.edu 37 1 156916756 156916756 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 156916756 156916756 T C SNP ARHGEF11 ENST00000368194 human ensembl 74_37 -1 known missense c.2540 p.K847R 0.992 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,pfam_RGS_dom,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 343 0 0 113 120 51.5021 CD1E 0 genome.wustl.edu 37 1 158324361 158324361 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 158324361 158324361 T G SNP CD1E ENST00000368167 human ensembl 74_37 +1 known missense c.253 p.F85V 0.879 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1E HGNC ENSG00000158488 70 0 0 16 28 63.6364 OR10K2 0 genome.wustl.edu 37 1 158390296 158390296 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 158390296 158390296 C A SNP OR10K2 ENST00000314902 human ensembl 74_37 -1 known missense c.361 p.D121Y 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K2 HGNC ENSG00000180708 133 0 0 94 35 27.1318 SPTA1 0 genome.wustl.edu 37 1 158596785 158596785 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 158596785 158596785 C T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.5677 p.E1893K 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 165 0 0 79 28 26.1682 SPTA1 0 genome.wustl.edu 37 1 158639574 158639574 + Silent SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 158639574 158639574 A G SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known silent c.1602 p.T534 0.666 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 219 0 0 122 50 29.0698 PYHIN1 0 genome.wustl.edu 37 1 158913704 158913704 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 158913704 158913704 G T SNP PYHIN1 ENST00000368140 human ensembl 74_37 +1 known missense c.1127 p.C376F 0.951 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors PYHIN1 HGNC ENSG00000163564 81 0 0 48 13 21.3115 IGSF9 0 genome.wustl.edu 37 1 159899451 159899451 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 159899451 159899451 C T SNP IGSF9 ENST00000368094 human ensembl 74_37 -1 known missense c.2303 p.R768H 0.419 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9 HGNC ENSG00000085552 14 0 0 7 3 30 ATP1A4 0 genome.wustl.edu 37 1 160145892 160145892 + Silent SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 160145892 160145892 C A SNP ATP1A4 ENST00000368081 human ensembl 74_37 +1 known silent c.2322 p.I774 1.000 tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A4 HGNC ENSG00000132681 386 0 0 219 74 25.256 ITLN1 0 genome.wustl.edu 37 1 160851041 160851041 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 160851041 160851041 G A SNP ITLN1 ENST00000326245 human ensembl 74_37 -1 known missense c.467 p.S156F 0.019 superfamily_Fibrinogen_a/b/g_C_dom superfamily_Fibrinogen_a/b/g_C_dom - no_errors ITLN1 HGNC ENSG00000179914 168 0 0 92 26 22.0339 PVRL4 0 genome.wustl.edu 37 1 161042656 161042656 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 161042656 161042656 C T SNP PVRL4 ENST00000368012 human ensembl 74_37 -1 known missense c.1328 p.R443H 1.000 NULL pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PVRL4 HGNC ENSG00000143217 36 0 0 19 6 24 HSPA6 0 genome.wustl.edu 37 1 161495588 161495588 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 161495588 161495588 C T SNP HSPA6 ENST00000309758 human ensembl 74_37 +1 known silent c.1140 p.A380 0.998 pfam_Hsp_70_fam,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA6 HGNC ENSG00000173110 15 0 0 9 9 50 SPEN 0 genome.wustl.edu 37 1 16202716 16202716 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 16202716 16202716 C T SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.424 p.R142C 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 59 0 0 28 7 20 NOS1AP 0 genome.wustl.edu 37 1 162336931 162336931 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 162336931 162336931 C A SNP NOS1AP ENST00000361897 human ensembl 74_37 +1 known missense c.1195 p.L399M 0.999 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors NOS1AP HGNC ENSG00000198929 309 0 0 145 50 25.641 SPEN 0 genome.wustl.edu 37 1 16260465 16260465 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 16260465 16260465 A G SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.7730 p.D2577G 0.278 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 216 0 0 98 38 27.9412 EPHA2 0 genome.wustl.edu 37 1 16461656 16461656 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 16461656 16461656 C T SNP EPHA2 ENST00000358432 human ensembl 74_37 -1 known missense c.1457 p.R486H 0.889 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA2 HGNC ENSG00000142627 302 0 0 143 41 22.2826 POGK 0 genome.wustl.edu 37 1 166818871 166818871 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 166818871 166818871 C T SNP POGK ENST00000367875 human ensembl 74_37 +1 known missense c.1055 p.A352V 0.001 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_Brinker_DNA-bd,pfam_HTH_CenpB_DNA-bd_dom,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Homeodomain-like,smart_Krueppel-associated_box,smart_HTH_CenpB_DNA-bd_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors POGK HGNC ENSG00000143157 154 0 0 82 33 28.6957 SZRD1 0 genome.wustl.edu 37 1 16721707 16721707 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 16721707 16721707 C T SNP SZRD1 ENST00000375590 human ensembl 74_37 +1 known missense c.421 p.P141S 1.000 NULL NULL - no_errors SZRD1 HGNC ENSG00000055070 15 0 0 11 4 26.6667 CROCCP2 0 genome.wustl.edu 37 1 16945738 16945738 + RNA SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 16945738 16945738 A G SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CROCCP2 HGNC ENSG00000215908 95 0 0 66 9 12 SCYL3 0 genome.wustl.edu 37 1 169825073 169825073 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 169825073 169825073 G A SNP SCYL3 ENST00000367770 human ensembl 74_37 -1 known silent c.1338 p.S446 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom - no_errors SCYL3 HGNC ENSG00000000457 70 0 0 42 3 6.66667 PRRC2C 0 genome.wustl.edu 37 1 171494089 171494089 + Silent SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 171494089 171494089 A G SNP PRRC2C ENST00000392078 human ensembl 74_37 +1 known silent c.1185 p.G395 0.946 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 24 0 0 13 7 35 METTL13 0 genome.wustl.edu 37 1 171763606 171763606 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 171763606 171763606 G A SNP METTL13 ENST00000361735 human ensembl 74_37 +1 known silent c.1764 p.P588 0.289 pfam_Spermidine/spermine_synthase pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase - no_errors METTL13 HGNC ENSG00000010165 72 0 0 50 22 30.5556 SUCO 0 genome.wustl.edu 37 1 172539198 172539198 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 172539198 172539198 C T SNP SUCO ENST00000608151 human ensembl 74_37 +1 known missense c.1345 p.H449Y 1.000 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC ENSG00000094975 25 0 0 10 7 41.1765 SLC9C2 0 genome.wustl.edu 37 1 173526624 173526624 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 173526624 173526624 C T SNP SLC9C2 ENST00000367714 human ensembl 74_37 -1 known missense c.1070 p.S357N 0.961 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 173 0 0 149 11 6.875 TNN 0 genome.wustl.edu 37 1 175048603 175048603 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 175048603 175048603 G A SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.544 p.V182M 1.000 pfam_EGF_extracell,smart_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 10 0 0 8 4 33.3333 TNN 0 genome.wustl.edu 37 1 175066603 175066603 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 175066603 175066603 G A SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.1639 p.A547T 0.270 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 85 0 0 45 6 11.7647 TNN 0 genome.wustl.edu 37 1 175097822 175097822 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 175097822 175097822 C T SNP TNN ENST00000239462 human ensembl 74_37 +1 known silent c.3270 p.G1090 0.012 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 134 0 0 90 29 24.3697 PADI3 0 genome.wustl.edu 37 1 17575654 17575654 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 17575654 17575654 C T SNP PADI3 ENST00000375460 human ensembl 74_37 +1 known missense c.22 p.R8C 1.000 pfam_PAD_N,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI3 HGNC ENSG00000142619 168 0 0 97 10 9.34579 ARHGEF10L 0 genome.wustl.edu 37 1 18023681 18023681 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 18023681 18023681 G A SNP ARHGEF10L ENST00000361221 human ensembl 74_37 +1 known missense c.3646 p.D1216N 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 52 0 0 36 10 21.7391 ZNF648 0 genome.wustl.edu 37 1 182026251 182026251 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 182026251 182026251 G T SNP ZNF648 ENST00000339948 human ensembl 74_37 -1 novel missense c.895 p.R299S 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ENSG00000179930 39 0 0 33 3 8.33333 NPL 0 genome.wustl.edu 37 1 182775303 182775303 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 182775303 182775303 C A SNP NPL ENST00000258317 human ensembl 74_37 +1 known missense c.166 p.L56M 1.000 pfam_DapA-like,prints_DapA-like pfam_DapA-like,prints_DapA-like - no_errors NPL HGNC ENSG00000135838 72 0 0 46 12 20.6897 LAMC2 0 genome.wustl.edu 37 1 183204789 183204789 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 183204789 183204789 C T SNP LAMC2 ENST00000264144 human ensembl 74_37 +1 known missense c.2380 p.R794C 0.004 NULL pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin - no_errors LAMC2 HGNC ENSG00000058085 78 0 0 45 13 22.4138 COLGALT2 0 genome.wustl.edu 37 1 183944265 183944265 + Missense_Mutation SNP C C G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 183944265 183944265 C G SNP COLGALT2 ENST00000361927 human ensembl 74_37 -1 known missense c.458 p.R153P 1.000 NULL pfam_Glyco_trans_25 - no_errors COLGALT2 HGNC ENSG00000198756 133 0 0 75 18 19.3548 HMCN1 0 genome.wustl.edu 37 1 185970773 185970773 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 185970773 185970773 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.4248 p.L1416 0.943 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 96 0 0 74 18 19.5652 HMCN1 0 genome.wustl.edu 37 1 186092202 186092202 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 186092202 186092202 C T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.12349 p.R4117C 0.843 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 92 0 0 77 18 18.9474 GABRD 0 genome.wustl.edu 37 1 1956993 1956993 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 1956993 1956993 C T SNP GABRD ENST00000378585 human ensembl 74_37 +1 known missense c.286 p.R96W 0.996 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRD HGNC ENSG00000187730 162 0 0 88 8 8.33333 AKR7A2 0 genome.wustl.edu 37 1 19630817 19630817 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 19630817 19630817 C T SNP AKR7A2 ENST00000235835 human ensembl 74_37 -1 known missense c.982 p.A328T 0.952 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors AKR7A2 HGNC ENSG00000053371 160 0 0 89 25 21.9298 CFHR3 0 genome.wustl.edu 37 1 196759259 196759259 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 196759259 196759259 C T SNP CFHR3 ENST00000367425 human ensembl 74_37 +1 known missense c.698 p.S233L 0.009 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR3 HGNC ENSG00000116785 190 1 0.52356 60 44 42.3077 ASPM 0 genome.wustl.edu 37 1 197070697 197070697 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 197070697 197070697 T C SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.7684 p.S2562G 0.998 superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,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 ENSG00000066279 59 0 0 31 3 8.82353 ASPM 0 genome.wustl.edu 37 1 197071707 197071707 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 197071707 197071707 G T SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.6674 p.A2225E 0.998 superfamily_ARM-type_fold pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,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 ENSG00000066279 92 0 0 33 19 36.5385 CRB1 0 genome.wustl.edu 37 1 197396685 197396685 + Nonsense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 197396685 197396685 C T SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known nonsense c.2230 p.R744* 0.999 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 54 0 0 27 10 27.027 GPR37L1 0 genome.wustl.edu 37 1 202092388 202092388 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 202092388 202092388 G A SNP GPR37L1 ENST00000367282 human ensembl 74_37 +1 known silent c.297 p.G99 0.614 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37L1 HGNC ENSG00000170075 66 0 0 13 11 45.8333 LGR6 0 genome.wustl.edu 37 1 202288271 202288271 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 202288271 202288271 G A SNP LGR6 ENST00000367278 human ensembl 74_37 +1 known missense c.2840 p.G947D 0.000 NULL pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn - no_errors LGR6 HGNC ENSG00000133067 89 0 0 36 18 33.3333 MYBPH 0 genome.wustl.edu 37 1 203139557 203139557 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 203139557 203139557 G A SNP MYBPH ENST00000255416 human ensembl 74_37 -1 known missense c.955 p.R319C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPH HGNC ENSG00000133055 117 0 0 39 29 42.6471 ZC3H11A 0 genome.wustl.edu 37 1 203797471 203797471 + Silent SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 203797471 203797471 A G SNP ZC3H11A ENST00000332127 human ensembl 74_37 +1 known silent c.219 p.T73 0.952 smart_Znf_CCCH smart_Znf_CCCH - no_errors ZC3H11A HGNC ENSG00000058673 56 0 0 15 18 54.5455 NFASC 0 genome.wustl.edu 37 1 204948558 204948558 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 204948558 204948558 G A SNP NFASC ENST00000367172 human ensembl 74_37 +1 known missense c.2047 p.G683S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NFASC HGNC ENSG00000163531 209 0 0 61 35 36.4583 TMCC2 0 genome.wustl.edu 37 1 205238716 205238716 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 205238716 205238716 C T SNP TMCC2 ENST00000358024 human ensembl 74_37 +1 known silent c.1386 p.S462 0.055 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE - no_errors TMCC2 HGNC ENSG00000133069 113 0 0 39 16 29.0909 SLC26A9 0 genome.wustl.edu 37 1 205892468 205892468 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 205892468 205892468 C T SNP SLC26A9 ENST00000340781 human ensembl 74_37 -1 known missense c.1654 p.A552T 0.994 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A9 HGNC ENSG00000174502 173 0 0 50 31 38.2716 CR2 0 genome.wustl.edu 37 1 207651401 207651401 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 207651401 207651401 C T SNP CR2 ENST00000367057 human ensembl 74_37 +1 known missense c.3074 p.A1025V 0.965 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 37 0 0 22 7 24.1379 LAMB3 0 genome.wustl.edu 37 1 209790919 209790919 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 209790919 209790919 G A SNP LAMB3 ENST00000356082 human ensembl 74_37 -1 known silent c.3064 p.L1022 0.003 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 94 0 0 39 3 7.14286 INTS7 0 genome.wustl.edu 37 1 212141284 212141284 + Nonsense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 212141284 212141284 G A SNP INTS7 ENST00000440600 human ensembl 74_37 -1 known nonsense c.1903 p.R635* 1.000 NULL superfamily_ARM-type_fold - no_errors INTS7 HGNC ENSG00000143493 72 0 0 30 22 42.3077 PROX1 0 genome.wustl.edu 37 1 214169895 214169895 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 214169895 214169895 G A SNP PROX1 ENST00000261454 human ensembl 74_37 +1 known missense c.17 p.S6N 1.000 NULL pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 95 0 0 27 18 40 MARC2 0 genome.wustl.edu 37 1 220928350 220928350 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 220928350 220928350 G A SNP MARC2 ENST00000366913 human ensembl 74_37 +1 known missense c.334 p.V112M 0.995 pfam_MOSC_N,superfamily_Pyrv_Knase-like_insert_dom pfam_MOSC_N,pfam_MoCF_Sase_C,superfamily_Pyrv_Knase-like_insert_dom - no_errors MARC2 HGNC ENSG00000117791 202 1 0.492611 122 35 22.293 HSPG2 0 genome.wustl.edu 37 1 22192298 22192298 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 22192298 22192298 G A SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.4226 p.A1409V 0.069 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 135 0 0 83 9 9.78261 AIDA 0 genome.wustl.edu 37 1 222846720 222846720 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 222846720 222846720 T C SNP AIDA ENST00000541237 human ensembl 74_37 -1 known missense c.569 p.E190G 1.000 pfam_AIDA_N pfam_AIDA_N,superfamily_AIDA_N - no_errors AIDA HGNC ENSG00000186063 54 0 0 35 9 20.4545 C1orf65 0 genome.wustl.edu 37 1 223568121 223568121 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 223568121 223568121 T G SNP C1orf65 ENST00000366875 human ensembl 74_37 +1 known missense c.1304 p.V435G 0.681 NULL NULL - no_errors C1orf65 HGNC ENSG00000178395 70 0 0 43 13 23.2143 TP53BP2 0 genome.wustl.edu 37 1 223989893 223989893 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 223989893 223989893 T C SNP TP53BP2 ENST00000343537 human ensembl 74_37 -1 known missense c.1150 p.I384V 0.060 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors TP53BP2 HGNC ENSG00000143514 158 0 0 120 15 11.1111 ENAH 0 genome.wustl.edu 37 1 225707109 225707109 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 225707109 225707109 C T SNP ENAH ENST00000366844 human ensembl 74_37 -1 known missense c.593 p.R198Q 0.979 NULL pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors ENAH HGNC ENSG00000154380 55 0 0 31 20 39.2157 ITPKB 0 genome.wustl.edu 37 1 226835021 226835021 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 226835021 226835021 C T SNP ITPKB ENST00000272117 human ensembl 74_37 -1 known missense c.2093 p.R698H 1.000 NULL pfam_IPK - no_errors ITPKB HGNC ENSG00000143772 64 0 0 40 11 21.5686 ADCK3 0 genome.wustl.edu 37 1 227152799 227152799 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 227152799 227152799 C T SNP ADCK3 ENST00000366777 human ensembl 74_37 +1 known silent c.276 p.D92 0.287 NULL pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK3 HGNC ENSG00000163050 77 0 0 36 12 25 C1orf35 0 genome.wustl.edu 37 1 228288772 228288772 + RNA SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 228288772 228288772 G T SNP C1orf35 ENST00000469781 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors C1orf35 HGNC ENSG00000143793 86 0 0 48 16 25 ZBTB40 0 genome.wustl.edu 37 1 22843928 22843928 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 22843928 22843928 G A SNP ZBTB40 ENST00000375647 human ensembl 74_37 +1 known missense c.2804 p.G935D 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB40 HGNC ENSG00000184677 114 0 0 52 30 36.5854 OBSCN 0 genome.wustl.edu 37 1 228462328 228462328 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 228462328 228462328 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.5739 p.G1913 0.026 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 28 0 0 17 4 19.0476 OBSCN 0 genome.wustl.edu 37 1 228509885 228509885 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 228509885 228509885 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.15343 p.P5115S 0.001 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 50 0 0 27 10 27.027 OBSCN 0 genome.wustl.edu 37 1 228548110 228548110 + Missense_Mutation SNP A A T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 228548110 228548110 A T SNP OBSCN ENST00000366709 human ensembl 74_37 +1 known missense c.10874 p.E3625V 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 76 0 0 39 12 23.5294 C1QC 0 genome.wustl.edu 37 1 22974052 22974052 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 22974052 22974052 G A SNP C1QC ENST00000374637 human ensembl 74_37 +1 known missense c.514 p.A172T 0.605 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QC HGNC ENSG00000159189 142 0 0 73 13 15.1163 URB2 0 genome.wustl.edu 37 1 229772212 229772212 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 229772212 229772212 G A SNP URB2 ENST00000258243 human ensembl 74_37 +1 known missense c.1852 p.A618T 0.000 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 308 0 0 177 52 22.7074 COG2 0 genome.wustl.edu 37 1 230823759 230823759 + RNA SNP G G C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 230823759 230823759 G C SNP COG2 ENST00000490900 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors COG2 HGNC ENSG00000135775 22 0 0 6 5 45.4545 AGT 0 genome.wustl.edu 37 1 230846219 230846219 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 230846219 230846219 G A SNP AGT ENST00000366667 human ensembl 74_37 -1 known silent c.378 p.G126 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Angiotensinogen - no_errors AGT HGNC ENSG00000135744 178 1 0.558659 119 33 21.7105 DISC1 0 genome.wustl.edu 37 1 231830305 231830305 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 231830305 231830305 T G SNP DISC1 ENST00000439617 human ensembl 74_37 +1 known missense c.801 p.S267R 0.000 NULL superfamily_Prefoldin - no_errors DISC1 HGNC ENSG00000162946 80 0 0 38 11 22.449 DISC1 0 genome.wustl.edu 37 1 232144539 232144539 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 232144539 232144539 G T SNP DISC1 ENST00000439617 human ensembl 74_37 +1 known missense c.2051 p.C684F 0.202 NULL superfamily_Prefoldin - no_errors DISC1 HGNC ENSG00000162946 83 0 0 26 31 54.386 SIPA1L2 0 genome.wustl.edu 37 1 232551494 232551494 + RNA SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 232551494 232551494 T C SNP SIPA1L2 ENST00000495863 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SIPA1L2 HGNC ENSG00000116991 29 0 0 8 8 50 PCNXL2 0 genome.wustl.edu 37 1 233397814 233397814 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 233397814 233397814 A G SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known missense c.457 p.S153P 0.853 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 163 0 0 99 17 14.6552 KCNK1 0 genome.wustl.edu 37 1 233802513 233802513 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 233802513 233802513 G A SNP KCNK1 ENST00000366621 human ensembl 74_37 +1 known silent c.528 p.K176 1.000 pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK1 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK1,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl - no_errors KCNK1 HGNC ENSG00000135750 84 0 0 60 5 7.69231 SLC35F3 0 genome.wustl.edu 37 1 234041293 234041293 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 234041293 234041293 G A SNP SLC35F3 ENST00000366618 human ensembl 74_37 +1 novel silent c.72 p.P24 1.000 NULL pfam_DMT,pfam_Tpt_PEP_trans_dom,pfam_SLC35_F1/F2/F6 - no_errors SLC35F3 HGNC ENSG00000183780 41 0 0 24 7 22.5806 GGPS1 0 genome.wustl.edu 37 1 235505516 235505516 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 235505516 235505516 C T SNP GGPS1 ENST00000282841 human ensembl 74_37 +1 known missense c.332 p.A111V 1.000 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors GGPS1 HGNC ENSG00000152904 48 0 0 34 7 17.0732 FMN2 0 genome.wustl.edu 37 1 240286542 240286542 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 240286542 240286542 A C SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.1679 p.K560T 1.000 pfscan_DEP_dom pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 116 0 0 69 21 23.3333 FMN2 0 genome.wustl.edu 37 1 240371894 240371894 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 240371894 240371894 G T SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.3782 p.G1261V 1.000 pfam_Formin_homology_1,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 47 0 0 24 20 45.4545 EXO1 0 genome.wustl.edu 37 1 242020674 242020674 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 242020674 242020674 C A SNP EXO1 ENST00000348581 human ensembl 74_37 +1 known missense c.433 p.L145I 0.994 pfam_XPG-I_dom,smart_XPG-I_dom,prints_XPG/Rad2 pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors EXO1 HGNC ENSG00000174371 197 0 0 146 39 21.0811 C1orf101 0 genome.wustl.edu 37 1 244643032 244643032 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 244643032 244643032 G A SNP C1orf101 ENST00000366534 human ensembl 74_37 +1 novel missense c.272 p.R91H 0.633 NULL NULL - no_errors C1orf101 HGNC ENSG00000179397 78 0 0 37 12 24.4898 NLRP3 0 genome.wustl.edu 37 1 247582207 247582207 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 247582207 247582207 C T SNP NLRP3 ENST00000336119 human ensembl 74_37 +1 known silent c.111 p.G37 0.890 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP3 HGNC ENSG00000162711 69 0 0 28 3 9.67742 OR2G2 0 genome.wustl.edu 37 1 247752027 247752027 + Silent SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 247752027 247752027 C A SNP OR2G2 ENST00000320065 human ensembl 74_37 +1 known silent c.366 p.S122 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G2 HGNC ENSG00000177489 230 0 0 150 53 26.1084 OR2T8 0 genome.wustl.edu 37 1 248084575 248084575 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 248084575 248084575 G A SNP OR2T8 ENST00000319968 human ensembl 74_37 +1 known missense c.256 p.G86R 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T8 HGNC ENSG00000177462 64 0 0 45 10 18.1818 OR2L5 0 genome.wustl.edu 37 1 248185386 248185386 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 248185386 248185386 T G SNP OR2L5 ENST00000355281 human ensembl 74_37 +1 known missense c.137 p.L46R 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L5 HGNC ENSG00000197454 335 0 0 176 73 29.3173 OR2L2 0 genome.wustl.edu 37 1 248202020 248202020 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 248202020 248202020 A C SNP OR2L2 ENST00000366479 human ensembl 74_37 +1 known missense c.451 p.S151R 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L2 HGNC ENSG00000203663 256 0 0 113 50 30.6748 OR2T33 0 genome.wustl.edu 37 1 248436861 248436861 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 248436861 248436861 C T SNP OR2T33 ENST00000318021 human ensembl 74_37 -1 known missense c.256 p.G86R 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T33 HGNC ENSG00000177212 358 1 0.278552 308 17 5.23077 OR2T35 0 genome.wustl.edu 37 1 248802016 248802016 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 248802016 248802016 G T SNP OR2T35 ENST00000317450 human ensembl 74_37 -1 known missense c.544 p.P182T 0.064 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 OR2T35 HGNC ENSG00000177151 23 0 0 9 20 68.9655 RHD 0 genome.wustl.edu 37 1 25611170 25611170 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 25611170 25611170 G A SNP RHD ENST00000328664 human ensembl 74_37 +1 known silent c.255 p.A85 0.875 pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHD HGNC ENSG00000187010 109 0 0 60 9 13.0435 TMEM57 0 genome.wustl.edu 37 1 25818071 25818071 + Silent SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 25818071 25818071 C A SNP TMEM57 ENST00000374343 human ensembl 74_37 +1 known silent c.1788 p.A596 1.000 pfam_Macoilin pfam_Macoilin,superfamily_Prefoldin - no_errors TMEM57 HGNC ENSG00000204178 63 0 0 29 13 30.9524 LDLRAP1 0 genome.wustl.edu 37 1 25880532 25880532 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 25880532 25880532 G A SNP LDLRAP1 ENST00000374338 human ensembl 74_37 +1 known missense c.208 p.A70T 1.000 pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors LDLRAP1 HGNC ENSG00000157978 98 0 0 57 17 22.973 MAN1C1 0 genome.wustl.edu 37 1 26104649 26104649 + Silent SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 26104649 26104649 C A SNP MAN1C1 ENST00000374332 human ensembl 74_37 +1 known silent c.1311 p.A437 0.434 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1C1 HGNC ENSG00000117643 90 0 0 50 11 18.0328 CNKSR1 0 genome.wustl.edu 37 1 26516001 26516001 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 26516001 26516001 C A SNP CNKSR1 ENST00000374253 human ensembl 74_37 +1 known missense c.2125 p.L709M 0.000 NULL pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR1 HGNC ENSG00000142675 202 0 0 111 40 26.4901 CATSPER4 0 genome.wustl.edu 37 1 26517892 26517892 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 26517892 26517892 G A SNP CATSPER4 ENST00000456354 human ensembl 74_37 +1 known missense c.328 p.A110T 0.997 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER4 HGNC ENSG00000188782 75 0 0 37 16 30.1887 EPB41 0 genome.wustl.edu 37 1 29386935 29386935 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 29386935 29386935 A G SNP EPB41 ENST00000343067 human ensembl 74_37 +1 known missense c.1946 p.K649R 1.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41 HGNC ENSG00000159023 44 0 0 47 8 14.5455 PTPRU 0 genome.wustl.edu 37 1 29586016 29586016 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 29586016 29586016 C T SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known silent c.615 p.N205 0.832 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 60 0 0 37 13 26 PTPRU 0 genome.wustl.edu 37 1 29650282 29650282 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 29650282 29650282 G A SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known missense c.4124 p.R1375H 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 68 0 0 34 14 29.1667 COL16A1 0 genome.wustl.edu 37 1 32131489 32131489 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 32131489 32131489 G A SNP COL16A1 ENST00000271069 human ensembl 74_37 -1 known silent c.3450 p.G1150 0.915 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL16A1 HGNC ENSG00000084636 133 0 0 56 18 24.3243 TMEM39B 0 genome.wustl.edu 37 1 32557330 32557330 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 32557330 32557330 C T SNP TMEM39B ENST00000456834 human ensembl 74_37 +1 known missense c.490 p.P164S 0.998 NULL pfam_Uncharacterised_TMEM39 - no_errors TMEM39B HGNC ENSG00000121775 83 0 0 38 14 26.9231 IQCC 0 genome.wustl.edu 37 1 32673633 32673633 + Nonsense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 32673633 32673633 G T SNP IQCC ENST00000537469 human ensembl 74_37 +1 known nonsense c.1591 p.G531* 0.169 NULL pfscan_IQ_motif_EF-hand-BS - no_errors IQCC HGNC ENSG00000160051 56 0 0 29 13 30.9524 DLGAP3 0 genome.wustl.edu 37 1 35331731 35331731 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 35331731 35331731 C T SNP DLGAP3 ENST00000235180 human ensembl 74_37 -1 known missense c.2893 p.A965T 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 47 0 0 34 6 15 ENSG00000272153 0 genome.wustl.edu 37 1 3701898 3701898 + RNA SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 3701898 3701898 G A SNP ENSG00000272153 ENST00000607459 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP1-286D6.5 Clone_based_vega_gene ENSG00000272153 22 0 0 13 5 27.7778 ZC3H12A 0 genome.wustl.edu 37 1 37941105 37941105 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 37941105 37941105 G A SNP ZC3H12A ENST00000373087 human ensembl 74_37 +1 known missense c.8 p.G3D 0.941 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ENSG00000163874 217 0 0 101 31 23.4848 INPP5B 0 genome.wustl.edu 37 1 38330097 38330097 + Splice_Site SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 38330097 38330097 T C SNP INPP5B ENST00000373023 human ensembl 74_37 -1 known splice_site c.2755-2 e22-2 1.000 - - - no_errors INPP5B HGNC ENSG00000204084 31 0 0 18 4 18.1818 HPCAL4 0 genome.wustl.edu 37 1 40149645 40149645 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 40149645 40149645 C T SNP HPCAL4 ENST00000372844 human ensembl 74_37 -1 known silent c.342 p.G114 0.995 smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors HPCAL4 HGNC ENSG00000116983 112 0 0 51 27 34.6154 OXCT2 0 genome.wustl.edu 37 1 40236754 40236754 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 40236754 40236754 G A SNP OXCT2 ENST00000327582 human ensembl 74_37 -1 known silent c.174 p.T58 0.000 pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_A pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A - no_errors OXCT2 HGNC ENSG00000198754 12 0 0 2 3 60 MYCL 0 genome.wustl.edu 37 1 40363267 40363267 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 40363267 40363267 C T SNP MYCL ENST00000372816 human ensembl 74_37 -1 known missense c.872 p.R291H 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc pfam_Tscrpt_reg_Myc_N,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYCL HGNC ENSG00000116990 159 0 0 108 26 19.403 MYCL 0 genome.wustl.edu 37 1 40366677 40366677 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 40366677 40366677 C T SNP MYCL ENST00000372816 human ensembl 74_37 -1 known missense c.430 p.A144T 0.964 NULL pfam_Tscrpt_reg_Myc_N,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYCL HGNC ENSG00000116990 13 0 0 3 3 50 SCMH1 0 genome.wustl.edu 37 1 41540998 41540998 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 41540998 41540998 G A SNP SCMH1 ENST00000326197 human ensembl 74_37 -1 known missense c.841 p.R281W 1.000 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors SCMH1 HGNC ENSG00000010803 157 0 0 111 37 25 SLC2A1 0 genome.wustl.edu 37 1 43392592 43392592 + RNA SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 43392592 43392592 G T SNP SLC2A1 ENST00000475162 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors SLC2A1 HGNC ENSG00000117394 29 0 0 13 4 23.5294 TIE1 0 genome.wustl.edu 37 1 43783574 43783574 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 43783574 43783574 A G SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known missense c.2753 p.E918G 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 571 0 0 398 35 8.08314 MED8 0 genome.wustl.edu 37 1 43851888 43851888 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 43851888 43851888 G A SNP MED8 ENST00000290663 human ensembl 74_37 -1 known missense c.503 p.P168L 1.000 pfam_Mediatior_Med8_fun/met pfam_Mediatior_Med8_fun/met - no_errors MED8 HGNC ENSG00000159479 101 0 0 47 20 29.8507 SZT2 0 genome.wustl.edu 37 1 43888841 43888841 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 43888841 43888841 G A SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known silent c.2109 p.T703 0.997 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 24 0 0 8 7 46.6667 SZT2 0 genome.wustl.edu 37 1 43914078 43914078 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 43914078 43914078 C T SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known missense c.9721 p.R3241C 1.000 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 13 0 0 5 5 50 PTPRF 0 genome.wustl.edu 37 1 44072062 44072062 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 44072062 44072062 G A SNP PTPRF ENST00000359947 human ensembl 74_37 +1 known missense c.3635 p.R1212Q 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 358 0 0 177 68 27.7551 SLC6A9 0 genome.wustl.edu 37 1 44474227 44474227 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 44474227 44474227 C T SNP SLC6A9 ENST00000360584 human ensembl 74_37 -1 known missense c.607 p.A203T 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1 - no_errors SLC6A9 HGNC ENSG00000196517 90 0 0 49 4 7.54717 MUTYH 0 genome.wustl.edu 37 1 45797368 45797368 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 45797368 45797368 C A SNP MUTYH ENST00000450313 human ensembl 74_37 -1 known missense c.1151 p.G384V 1.000 superfamily_NUDIX_hydrolase_dom-like pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,superfamily_NUDIX_hydrolase_dom-like,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif - no_errors MUTYH HGNC ENSG00000132781 89 0 0 78 5 6.0241 MMACHC 0 genome.wustl.edu 37 1 45973942 45973942 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 45973942 45973942 G A SNP MMACHC ENST00000401061 human ensembl 74_37 +1 known missense c.335 p.R112H 1.000 NULL NULL - no_errors MMACHC HGNC ENSG00000132763 107 0 0 74 13 14.9425 CCDC17 0 genome.wustl.edu 37 1 46086449 46086449 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 46086449 46086449 C T SNP CCDC17 ENST00000343901 human ensembl 74_37 -1 known silent c.1560 p.Q520 1.000 NULL NULL - no_errors CCDC17 HGNC ENSG00000159588 28 0 0 9 5 35.7143 SLC5A9 0 genome.wustl.edu 37 1 48701405 48701405 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 48701405 48701405 G A SNP SLC5A9 ENST00000236495 human ensembl 74_37 +1 known silent c.1221 p.L407 0.994 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A9 HGNC ENSG00000117834 76 0 0 46 14 23.3333 BEND5 0 genome.wustl.edu 37 1 49224933 49224933 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 49224933 49224933 G A SNP BEND5 ENST00000371833 human ensembl 74_37 -1 known silent c.384 p.S128 0.773 NULL pfam_BEN_domain - no_errors BEND5 HGNC ENSG00000162373 8 0 0 4 5 55.5556 C8B 0 genome.wustl.edu 37 1 57420464 57420464 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 57420464 57420464 T C SNP C8B ENST00000371237 human ensembl 74_37 -1 known missense c.428 p.D143G 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_MAC_perforin pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C8B HGNC ENSG00000021852 116 0 0 64 23 26.4368 DAB1 0 genome.wustl.edu 37 1 57476396 57476396 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 57476396 57476396 T C SNP DAB1 ENST00000371231 human ensembl 74_37 -1 known missense c.1739 p.D580G 1.000 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB1 HGNC ENSG00000173406 181 0 0 100 33 24.812 JUN 0 genome.wustl.edu 37 1 59247823 59247823 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 59247823 59247823 T C SNP JUN ENST00000371222 human ensembl 74_37 -1 known missense c.920 p.Q307R 1.000 pfam_bZIP,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun pfam_JNK,pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUN HGNC ENSG00000177606 197 0 0 122 31 20.2614 NPHP4 0 genome.wustl.edu 37 1 5965427 5965427 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 5965427 5965427 G A SNP NPHP4 ENST00000378156 human ensembl 74_37 -1 known missense c.1880 p.T627M 0.003 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 232 0 0 115 46 28.5714 NPHP4 0 genome.wustl.edu 37 1 5965471 5965471 + Silent SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 5965471 5965471 G T SNP NPHP4 ENST00000378156 human ensembl 74_37 -1 known silent c.1836 p.A612 0.146 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 140 1 0.70922 80 10 11.1111 CHD5 0 genome.wustl.edu 37 1 6206878 6206878 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 6206878 6206878 C T SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known silent c.1437 p.E479 0.995 superfamily_Chromodomain-like,smart_Chromo_domain/shadow pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 20 0 0 16 3 15.7895 INADL 0 genome.wustl.edu 37 1 62455951 62455951 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 62455951 62455951 G A SNP INADL ENST00000371158 human ensembl 74_37 +1 known missense c.3782 p.R1261H 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 128 0 0 71 29 29 INADL 0 genome.wustl.edu 37 1 62550223 62550223 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 62550223 62550223 C T SNP INADL ENST00000371158 human ensembl 74_37 +1 known missense c.4280 p.T1427M 0.998 superfamily_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 107 0 0 49 22 30.9859 ANGPTL3 0 genome.wustl.edu 37 1 63070402 63070402 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 63070402 63070402 T C SNP ANGPTL3 ENST00000371129 human ensembl 74_37 +1 known missense c.1297 p.S433P 0.196 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL3 HGNC ENSG00000132855 117 0 0 50 20 28.5714 ESPN 0 genome.wustl.edu 37 1 6488424 6488424 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 6488424 6488424 G A SNP ESPN ENST00000377828 human ensembl 74_37 +1 known missense c.433 p.A145T 0.999 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_WH2_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_WH2_dom - no_errors ESPN HGNC ENSG00000187017 128 0 0 97 6 5.82524 DNAJC11 0 genome.wustl.edu 37 1 6712907 6712907 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 6712907 6712907 C T SNP DNAJC11 ENST00000377577 human ensembl 74_37 -1 known silent c.612 p.S204 0.487 NULL pfam_DnaJ-like_C11_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC11 HGNC ENSG00000007923 133 0 0 72 26 26.5306 SLC44A5 0 genome.wustl.edu 37 1 75740675 75740675 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 75740675 75740675 G A SNP SLC44A5 ENST00000370855 human ensembl 74_37 -1 known silent c.228 p.G76 0.994 NULL pfam_Choline_transptr-like - no_errors SLC44A5 HGNC ENSG00000137968 45 0 0 33 5 13.1579 ACADM 0 genome.wustl.edu 37 1 76215155 76215155 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 76215155 76215155 G T SNP ACADM ENST00000420607 human ensembl 74_37 +1 known missense c.772 p.D258Y 1.000 superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADM HGNC ENSG00000117054 122 0 0 87 21 19.4444 GIPC2 0 genome.wustl.edu 37 1 78585146 78585146 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 78585146 78585146 G A SNP GIPC2 ENST00000370759 human ensembl 74_37 +1 known missense c.677 p.R226H 1.000 pirsf_UCP038083_PDZ pfam_PDZ,superfamily_PDZ,superfamily_Ig_E-set,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC2 HGNC ENSG00000137960 64 0 0 37 4 9.7561 LPHN2 0 genome.wustl.edu 37 1 82456582 82456582 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 82456582 82456582 T G SNP LPHN2 ENST00000370717 human ensembl 74_37 +1 known missense c.4178 p.L1393R 0.997 pfam_GPCR_2_latrophilin_rcpt_C pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 151 0 0 60 25 29.4118 COL24A1 0 genome.wustl.edu 37 1 86515849 86515849 + Silent SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 86515849 86515849 G T SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known silent c.1863 p.G621 0.993 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 113 0 0 89 20 18.3486 PKN2 0 genome.wustl.edu 37 1 89237165 89237165 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 89237165 89237165 A G SNP PKN2 ENST00000370521 human ensembl 74_37 +1 known missense c.684 p.I228M 1.000 pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN2 HGNC ENSG00000065243 92 0 0 64 19 22.8916 LRRC8D 0 genome.wustl.edu 37 1 90399442 90399442 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 90399442 90399442 G A SNP LRRC8D ENST00000337338 human ensembl 74_37 +1 known missense c.815 p.S272N 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8D HGNC ENSG00000171492 30 0 0 15 5 25 SPSB1 0 genome.wustl.edu 37 1 9416386 9416386 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 9416386 9416386 C T SNP SPSB1 ENST00000328089 human ensembl 74_37 +1 known missense c.436 p.R146C 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C - no_errors SPSB1 HGNC ENSG00000171621 99 0 0 50 15 23.0769 LPPR4 0 genome.wustl.edu 37 1 99771789 99771789 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 99771789 99771789 G A SNP LPPR4 ENST00000370185 human ensembl 74_37 +1 known silent c.1515 p.Q505 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR4 Uniprot_gn ENSG00000117600 395 0 0 238 55 18.7713 LPPR4 0 genome.wustl.edu 37 1 99771907 99771907 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 99771907 99771907 A C SNP LPPR4 ENST00000370185 human ensembl 74_37 +1 known missense c.1633 p.S545R 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR4 Uniprot_gn ENSG00000117600 227 0 0 116 34 22.6667 COX15 0 genome.wustl.edu 37 10 101489441 101489441 + Silent SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 101489441 101489441 A G SNP COX15 ENST00000016171 human ensembl 74_37 -1 known silent c.141 p.S47 0.911 superfamily_Trypsin-like_Pept_dom pfam_HemeA_syn,superfamily_Trypsin-like_Pept_dom - no_errors COX15 HGNC ENSG00000014919 137 0 0 62 11 15.0685 SCD 0 genome.wustl.edu 37 10 102107859 102107859 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 102107859 102107859 G A SNP SCD ENST00000370355 human ensembl 74_37 +1 known silent c.66 p.A22 0.998 NULL pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core - no_errors SCD HGNC ENSG00000099194 244 0 0 60 31 34.0659 SEC31B 0 genome.wustl.edu 37 10 102255279 102255279 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 102255279 102255279 G A SNP SEC31B ENST00000370345 human ensembl 74_37 -1 known missense c.2335 p.R779W 0.984 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31B HGNC ENSG00000075826 49 0 0 11 8 42.1053 TLX1 0 genome.wustl.edu 37 10 102893954 102893954 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 102893954 102893954 G A SNP TLX1 ENST00000370196 human ensembl 74_37 +1 known silent c.591 p.T197 0.993 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors TLX1 HGNC ENSG00000107807 28 0 0 7 7 50 C10orf76 0 genome.wustl.edu 37 10 103607151 103607151 + RNA SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 103607151 103607151 C T SNP C10orf76 ENST00000495001 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C10orf76 HGNC ENSG00000120029 19 0 0 11 6 35.2941 TRIM8 0 genome.wustl.edu 37 10 104415048 104415048 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 104415048 104415048 C T SNP TRIM8 ENST00000302424 human ensembl 74_37 +1 known missense c.878 p.T293M 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors TRIM8 HGNC ENSG00000171206 76 0 0 18 24 57.1429 IDI1 0 genome.wustl.edu 37 10 1089378 1089378 + RNA SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 1089378 1089378 T C SNP IDI1 ENST00000482091 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors IDI1 HGNC ENSG00000067064 42 0 0 7 5 41.6667 MXI1 0 genome.wustl.edu 37 10 111967674 111967674 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 111967674 111967674 G A SNP MXI1 ENST00000332674 human ensembl 74_37 +1 known silent c.108 p.P36 0.986 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MXI1 HGNC ENSG00000119950 24 0 0 9 4 30.7692 ABLIM1 0 genome.wustl.edu 37 10 116444084 116444084 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 116444084 116444084 A C SNP ABLIM1 ENST00000369252 human ensembl 74_37 -1 known missense c.29 p.L10R 0.131 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM1 HGNC ENSG00000099204 106 0 0 42 27 39.1304 PNLIPRP2 0 genome.wustl.edu 37 10 118385521 118385521 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 118385521 118385521 G A SNP PNLIPRP2 ENST00000537242 human ensembl 74_37 +1 known missense c.269 p.R90H 0.975 pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,prints_Lipase pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipase_panc,prints_Lipase,pfscan_PLAT/LH2_dom - no_errors PNLIPRP2 HGNC ENSG00000165862 63 0 0 14 12 46.1538 HSPA12A 0 genome.wustl.edu 37 10 118434729 118434729 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 118434729 118434729 G A SNP HSPA12A ENST00000369209 human ensembl 74_37 -1 known missense c.1591 p.R531C 1.000 NULL NULL - no_errors HSPA12A HGNC ENSG00000165868 73 0 0 28 10 26.3158 C10orf120 0 genome.wustl.edu 37 10 124457714 124457714 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 124457714 124457714 C A SNP C10orf120 ENST00000329446 human ensembl 74_37 -1 known missense c.543 p.Q181H 0.000 NULL NULL - no_errors C10orf120 HGNC ENSG00000183559 162 0 0 48 31 39.2405 IKZF5 0 genome.wustl.edu 37 10 124754218 124754218 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 124754218 124754218 T C SNP IKZF5 ENST00000368886 human ensembl 74_37 -1 known missense c.338 p.H113R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF5 HGNC ENSG00000095574 124 0 0 74 6 7.5 ACADSB 0 genome.wustl.edu 37 10 124800748 124800748 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 124800748 124800748 G T SNP ACADSB ENST00000358776 human ensembl 74_37 +1 known missense c.534 p.E178D 1.000 pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADSB HGNC ENSG00000196177 153 0 0 63 24 27.5862 ZRANB1 0 genome.wustl.edu 37 10 126671767 126671767 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 126671767 126671767 G A SNP ZRANB1 ENST00000359653 human ensembl 74_37 +1 known silent c.1572 p.T524 0.940 pfam_OTU,pfscan_OTU pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2 - no_errors ZRANB1 HGNC ENSG00000019995 158 0 0 57 29 33.7209 PTPRE 0 genome.wustl.edu 37 10 129869203 129869203 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 129869203 129869203 C T SNP PTPRE ENST00000479896 human ensembl 74_37 +1 known silent c.1251 p.G417 0.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRE HGNC ENSG00000132334 42 0 0 6 4 40 OPTN 0 genome.wustl.edu 37 10 13178765 13178765 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 13178765 13178765 C T SNP OPTN ENST00000263036 human ensembl 74_37 +1 known missense c.1633 p.R545W 0.077 NULL pfam_NEMO_N - no_errors OPTN HGNC ENSG00000123240 72 0 0 66 9 12 DPYSL4 0 genome.wustl.edu 37 10 134010562 134010562 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 134010562 134010562 C T SNP DPYSL4 ENST00000338492 human ensembl 74_37 +1 known missense c.578 p.A193V 0.999 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL4 HGNC ENSG00000151640 15 0 0 4 4 50 TTC40 0 genome.wustl.edu 37 10 134622003 134622003 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 134622003 134622003 G A SNP TTC40 ENST00000263170 human ensembl 74_37 -1 known silent c.2553 p.G851 0.000 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 183 0 0 85 33 27.9661 KNDC1 0 genome.wustl.edu 37 10 135024207 135024207 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 135024207 135024207 G A SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known missense c.3893 p.R1298H 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 214 0 0 93 49 34.507 KNDC1 0 genome.wustl.edu 37 10 135032588 135032588 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 135032588 135032588 C T SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known silent c.4860 p.A1620 0.586 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,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 35 0 0 20 5 20 RPP38 0 genome.wustl.edu 37 10 15145415 15145415 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 15145415 15145415 C T SNP RPP38 ENST00000378197 human ensembl 74_37 +1 known silent c.102 p.S34 0.000 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors RPP38 HGNC ENSG00000152464 122 0 0 248 26 9.48905 FAM171A1 0 genome.wustl.edu 37 10 15254921 15254921 + Missense_Mutation SNP A A T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 15254921 15254921 A T SNP FAM171A1 ENST00000378116 human ensembl 74_37 -1 known missense c.2666 p.I889N 0.998 NULL pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 225 0 0 409 36 8.08989 FAM171A1 0 genome.wustl.edu 37 10 15290770 15290770 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 15290770 15290770 C T SNP FAM171A1 ENST00000378116 human ensembl 74_37 -1 known missense c.622 p.V208I 0.997 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 112 0 0 204 12 5.55556 PTER 0 genome.wustl.edu 37 10 16528578 16528578 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 16528578 16528578 C T SNP PTER ENST00000298942 human ensembl 74_37 +1 known silent c.660 p.G220 0.328 pfam_Aryldialkylphosphatase,pfam_TatD_family pfam_Aryldialkylphosphatase,pfam_TatD_family - no_errors PTER HGNC ENSG00000165983 131 0 0 100 24 19.3548 CUBN 0 genome.wustl.edu 37 10 16941150 16941150 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 16941150 16941150 T C SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.8443 p.T2815A 0.009 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 105 0 0 107 17 13.7097 SLC39A12 0 genome.wustl.edu 37 10 18276520 18276520 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 18276520 18276520 G A SNP SLC39A12 ENST00000377369 human ensembl 74_37 +1 known silent c.1209 p.L403 0.911 pfam_ZIP pfam_ZIP - no_errors SLC39A12 HGNC ENSG00000148482 193 0 0 178 33 15.6398 GPR158 0 genome.wustl.edu 37 10 25887786 25887786 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 25887786 25887786 A C SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.3231 p.Q1077H 0.005 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 184 0 0 133 32 19.3939 MYO3A 0 genome.wustl.edu 37 10 26443677 26443677 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 26443677 26443677 C T SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known silent c.2718 p.G906 0.987 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 52 0 0 37 9 19.5652 GAD2 0 genome.wustl.edu 37 10 26505753 26505753 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 26505753 26505753 C T SNP GAD2 ENST00000259271 human ensembl 74_37 +1 known silent c.15 p.G5 1.000 NULL pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD2 HGNC ENSG00000136750 122 0 0 68 24 26.087 GAD2 0 genome.wustl.edu 37 10 26506836 26506836 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 26506836 26506836 G A SNP GAD2 ENST00000259271 human ensembl 74_37 +1 known missense c.202 p.A68T 0.000 NULL pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD2 HGNC ENSG00000136750 60 0 0 37 5 11.9048 GAD2 0 genome.wustl.edu 37 10 26513580 26513580 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 26513580 26513580 G A SNP GAD2 ENST00000259271 human ensembl 74_37 +1 known missense c.724 p.G242S 1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD2 HGNC ENSG00000136750 67 0 0 62 17 21.519 PDSS1 0 genome.wustl.edu 37 10 27012843 27012843 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 27012843 27012843 C T SNP PDSS1 ENST00000376215 human ensembl 74_37 +1 known missense c.718 p.R240C 1.000 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors PDSS1 HGNC ENSG00000148459 76 0 0 52 9 14.7541 PTCHD3 0 genome.wustl.edu 37 10 27702478 27702478 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 27702478 27702478 G A SNP PTCHD3 ENST00000438700 human ensembl 74_37 -1 known silent c.702 p.G234 0.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 69 0 0 64 21 24.7059 ZNF438 0 genome.wustl.edu 37 10 31133912 31133912 + Missense_Mutation SNP A A T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 31133912 31133912 A T SNP ZNF438 ENST00000361310 human ensembl 74_37 -1 known missense c.2465 p.L822H 0.002 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF438 HGNC ENSG00000183621 368 0 0 178 130 42.2078 ZNF438 0 genome.wustl.edu 37 10 31134326 31134326 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 31134326 31134326 G A SNP ZNF438 ENST00000361310 human ensembl 74_37 -1 known missense c.2051 p.P684L 0.003 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF438 HGNC ENSG00000183621 145 0 0 89 25 21.9298 PFKP 0 genome.wustl.edu 37 10 3124609 3124609 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 3124609 3124609 C T SNP PFKP ENST00000381125 human ensembl 74_37 +1 known missense c.142 p.R48C 1.000 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKP HGNC ENSG00000067057 116 0 0 130 24 15.5844 ZEB1 0 genome.wustl.edu 37 10 31815877 31815877 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 31815877 31815877 C T SNP ZEB1 ENST00000361642 human ensembl 74_37 +1 known silent c.3063 p.G1021 0.681 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 76 0 0 25 7 21.875 NRP1 0 genome.wustl.edu 37 10 33502476 33502476 + Nonsense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 33502476 33502476 C T SNP NRP1 ENST00000265371 human ensembl 74_37 -1 known nonsense c.1452 p.W484* 1.000 pirsf_Neuropilin,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP1 HGNC ENSG00000099250 143 0 0 124 22 15.0685 ZNF33A 0 genome.wustl.edu 37 10 38343438 38343438 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 38343438 38343438 A G SNP ZNF33A ENST00000432900 human ensembl 74_37 +1 known missense c.404 p.D135G 0.068 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 ZNF33A HGNC ENSG00000189180 116 0 0 107 21 16.4062 BMS1 0 genome.wustl.edu 37 10 43315753 43315753 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 43315753 43315753 A G SNP BMS1 ENST00000374518 human ensembl 74_37 +1 known missense c.2650 p.M884V 1.000 pfam_BMS1_TSR1_C pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AARP2CN - no_errors BMS1 HGNC ENSG00000165733 177 0 0 100 31 23.6641 RET 0 genome.wustl.edu 37 10 43613913 43613913 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 43613913 43613913 G A SNP RET ENST00000355710 human ensembl 74_37 +1 known missense c.2377 p.A793T 1.000 pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 71 0 0 45 10 18.1818 TMEM72 0 genome.wustl.edu 37 10 45430553 45430553 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 45430553 45430553 T C SNP TMEM72 ENST00000544540 human ensembl 74_37 +1 known missense c.445 p.S149P 0.588 NULL NULL - no_errors TMEM72 HGNC ENSG00000187783 77 0 0 52 9 14.7541 ALOX5 0 genome.wustl.edu 37 10 45938850 45938850 + RNA SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 45938850 45938850 G A SNP ALOX5 ENST00000481117 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors ALOX5 HGNC ENSG00000012779 20 0 0 18 5 21.7391 FRMPD2 0 genome.wustl.edu 37 10 49457097 49457097 + Silent SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 49457097 49457097 T C SNP FRMPD2 ENST00000374201 human ensembl 74_37 -1 known silent c.276 p.G92 0.006 superfamily_Kinase-like_dom,smart_KIND pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 65 0 0 56 7 11.1111 ERCC6 0 genome.wustl.edu 37 10 50680490 50680490 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 50680490 50680490 G A SNP ERCC6 ENST00000355832 human ensembl 74_37 -1 known silent c.2856 p.G952 0.824 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 223 0 0 145 35 19.4444 OGDHL 0 genome.wustl.edu 37 10 50959951 50959951 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 50959951 50959951 T C SNP OGDHL ENST00000374103 human ensembl 74_37 -1 known missense c.671 p.K224R 1.000 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 295 0 0 212 71 25.0883 NCOA4 0 genome.wustl.edu 37 10 51585083 51585083 + Silent SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 51585083 51585083 T C SNP NCOA4 ENST00000452682 human ensembl 74_37 +1 known silent c.1230 p.H410 0.942 NULL pfam_ARA70 - no_errors NCOA4 HGNC ENSG00000138293 79 0 0 62 15 19.4805 FAM208B 0 genome.wustl.edu 37 10 5782190 5782190 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 5782190 5782190 C A SNP FAM208B ENST00000328090 human ensembl 74_37 +1 known missense c.2057 p.P686H 0.781 pfam_DUF3715 pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 218 0 0 247 44 15.1203 FAM208B 0 genome.wustl.edu 37 10 5788819 5788819 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 5788819 5788819 G A SNP FAM208B ENST00000328090 human ensembl 74_37 +1 known silent c.3435 p.T1145 0.000 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 166 0 0 205 39 15.9836 FBXO18 0 genome.wustl.edu 37 10 5959450 5959450 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 5959450 5959450 C T SNP FBXO18 ENST00000379999 human ensembl 74_37 +1 known missense c.2009 p.A670V 0.984 superfamily_P-loop_NTPase pfam_UvrD-like_ATP-bd,pfam_F-box_dom,superfamily_P-loop_NTPase,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO18 HGNC ENSG00000134452 56 0 0 69 8 10.3896 RBM17 0 genome.wustl.edu 37 10 6154225 6154225 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 6154225 6154225 G T SNP RBM17 ENST00000379888 human ensembl 74_37 +1 known missense c.757 p.G253C 1.000 pfam_G_patch_dom,smart_G_patch_dom,pirsf_Splicing_factor_SPF45,pfscan_G_patch_dom pfam_G_patch_dom,smart_G_patch_dom,smart_RRM_dom_euk,pirsf_Splicing_factor_SPF45,pfscan_G_patch_dom - no_errors RBM17 HGNC ENSG00000134453 87 0 0 130 14 9.72222 ANK3 0 genome.wustl.edu 37 10 61831897 61831897 + Silent SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 61831897 61831897 T G SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known silent c.8742 p.S2914 0.994 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 69 0 0 49 10 16.9492 DNAJC12 0 genome.wustl.edu 37 10 69571347 69571347 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 69571347 69571347 A C SNP DNAJC12 ENST00000225171 human ensembl 74_37 -1 known missense c.232 p.W78G 1.000 superfamily_DnaJ_domain,pfscan_DnaJ_domain pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC12 HGNC ENSG00000108176 166 0 0 171 33 16.1765 PPA1 0 genome.wustl.edu 37 10 71977579 71977579 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 71977579 71977579 C T SNP PPA1 ENST00000373232 human ensembl 74_37 -1 known missense c.286 p.A96T 1.000 pfam_Pyrophosphatase,superfamily_Pyrophosphatase pfam_Pyrophosphatase,superfamily_Pyrophosphatase - no_errors PPA1 HGNC ENSG00000180817 95 0 0 79 13 14.1304 CDH23 0 genome.wustl.edu 37 10 73464675 73464675 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 73464675 73464675 C T SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.2756 p.A919V 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 121 0 0 100 13 11.5044 CDH23 0 genome.wustl.edu 37 10 73491898 73491898 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 73491898 73491898 G A SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative silent c.3885 p.P1295 0.071 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 57 0 0 49 7 12.5 PSAP 0 genome.wustl.edu 37 10 73588831 73588831 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 73588831 73588831 G A SNP PSAP ENST00000394934 human ensembl 74_37 -1 known missense c.379 p.R127C 0.093 pirsf_Saposin_chordata,pfam_SapB_2,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB pirsf_Saposin_chordata,pfam_SapB_1,pfam_SapB_2,pfam_SapA,superfamily_Saposin-like,smart_SapA,smart_SaposinB,prints_Saposin,pfscan_SapA,pfscan_SaposinB - no_errors PSAP HGNC ENSG00000197746 113 0 0 88 8 8.33333 ENSG00000272599 0 genome.wustl.edu 37 10 74885044 74885044 + RNA SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 74885044 74885044 C T SNP ENSG00000272599 ENST00000608444 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-152N13.16 Clone_based_vega_gene ENSG00000272599 94 0 0 101 22 17.8862 MSS51 0 genome.wustl.edu 37 10 75188039 75188039 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 75188039 75188039 C T SNP MSS51 ENST00000299432 human ensembl 74_37 -1 known missense c.4 p.A2T 1.000 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors MSS51 HGNC ENSG00000166343 63 0 0 64 12 15.7895 PPP3CB 0 genome.wustl.edu 37 10 75234731 75234731 + Nonsense_Mutation SNP T T A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 75234731 75234731 T A SNP PPP3CB ENST00000394829 human ensembl 74_37 -1 known nonsense c.469 p.R157* 1.000 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CB HGNC ENSG00000107758 80 0 0 72 29 28.7129 SYNPO2L 0 genome.wustl.edu 37 10 75408049 75408049 + Missense_Mutation SNP C C G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 75408049 75408049 C G SNP SYNPO2L ENST00000394810 human ensembl 74_37 -1 known missense c.1361 p.G454A 0.004 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2L HGNC ENSG00000166317 30 0 0 34 4 10.5263 ENSG00000242288 0 genome.wustl.edu 37 10 75482333 75482333 + RNA SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 75482333 75482333 T C SNP ENSG00000242288 ENST00000399449 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors RP11-464F9.1 Clone_based_vega_gene ENSG00000242288 126 0 0 169 23 11.9792 SEC24C 0 genome.wustl.edu 37 10 75525936 75525936 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 75525936 75525936 G T SNP SEC24C ENST00000339365 human ensembl 74_37 +1 known missense c.1575 p.E525D 1.000 pfam_Sec23/24_trunk_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24C HGNC ENSG00000176986 134 0 0 126 28 18.1818 ZSWIM8-AS1 0 genome.wustl.edu 37 10 75556839 75556839 + RNA SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 75556839 75556839 G A SNP ZSWIM8-AS1 ENST00000456638 human ensembl 74_37 -1 known rna NULL NULL 0.990 - - - no_errors ZSWIM8-AS1 HGNC ENSG00000272589 43 0 0 34 7 17.0732 KAT6B 0 genome.wustl.edu 37 10 76789444 76789444 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 76789444 76789444 C T SNP KAT6B ENST00000287239 human ensembl 74_37 +1 known missense c.4862 p.A1621V 0.998 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 121 0 0 125 20 13.7931 DUSP13 0 genome.wustl.edu 37 10 76863773 76863773 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 76863773 76863773 G A SNP DUSP13 ENST00000491677 human ensembl 74_37 -1 known missense c.170 p.A57V 0.048 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP13 HGNC ENSG00000079393 25 0 0 20 6 23.0769 TAF3 0 genome.wustl.edu 37 10 7866405 7866405 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 7866405 7866405 G A SNP TAF3 ENST00000344293 human ensembl 74_37 +1 known silent c.291 p.P97 0.993 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 ENSG00000165632 172 0 0 182 39 17.6471 KCNMA1 0 genome.wustl.edu 37 10 78944607 78944607 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 78944607 78944607 A C SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known missense c.670 p.F224V 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 151 0 0 138 33 19.2982 RPS24 0 genome.wustl.edu 37 10 79795119 79795119 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 79795119 79795119 G A SNP RPS24 ENST00000440692 human ensembl 74_37 +1 known missense c.13 p.V5I 1.000 superfamily_Ribosomal_L23/L15e_core_dom pfam_Ribosomal_S24e,superfamily_Ribosomal_L23/L15e_core_dom - no_errors RPS24 HGNC ENSG00000138326 148 0 0 112 30 21.1268 ZMIZ1 0 genome.wustl.edu 37 10 81061949 81061949 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 81061949 81061949 C T SNP ZMIZ1 ENST00000334512 human ensembl 74_37 +1 known missense c.2105 p.A702V 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ENSG00000108175 210 0 0 149 40 21.164 NRG3 0 genome.wustl.edu 37 10 84745310 84745310 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 84745310 84745310 G A SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known silent c.2112 p.A704 1.000 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 142 1 0.699301 223 18 7.46888 MMRN2 0 genome.wustl.edu 37 10 88702426 88702426 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 88702426 88702426 G A SNP MMRN2 ENST00000372027 human ensembl 74_37 -1 known silent c.2115 p.S705 0.001 NULL pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like_dom,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors MMRN2 HGNC ENSG00000173269 33 0 0 15 6 28.5714 ENSG00000271880 0 genome.wustl.edu 37 10 88769344 88769344 + RNA SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 88769344 88769344 C A SNP ENSG00000271880 ENST00000433214 human ensembl 74_37 +1 known rna NULL NULL 0.741 - - - no_errors RP11-96C23.5 Clone_based_vega_gene ENSG00000271880 252 0 0 86 65 43.0464 TNKS2 0 genome.wustl.edu 37 10 93579297 93579297 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 93579297 93579297 G A SNP TNKS2 ENST00000371627 human ensembl 74_37 +1 known missense c.616 p.A206T 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS2 HGNC ENSG00000107854 159 0 0 58 26 30.9524 TBC1D12 0 genome.wustl.edu 37 10 96291116 96291116 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 96291116 96291116 G A SNP TBC1D12 ENST00000225235 human ensembl 74_37 +1 known missense c.2158 p.A720T 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D12 HGNC ENSG00000108239 141 1 0.704225 41 24 36.9231 ENTPD1 0 genome.wustl.edu 37 10 97605234 97605234 + Missense_Mutation SNP T T A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 97605234 97605234 T A SNP ENTPD1 ENST00000371207 human ensembl 74_37 +1 known missense c.730 p.S244T 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD1 HGNC ENSG00000138185 209 1 0.47619 86 44 33.8462 CNTN5 0 genome.wustl.edu 37 11 100179126 100179126 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 100179126 100179126 A C SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known missense c.2656 p.S886R 0.990 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN5 HGNC ENSG00000149972 44 0 0 29 6 17.1429 PGR 0 genome.wustl.edu 37 11 100998925 100998925 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 100998925 100998925 G A SNP PGR ENST00000325455 human ensembl 74_37 -1 known missense c.877 p.R293C 1.000 pfam_Progest_rcpt pfam_Progest_rcpt,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_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors PGR HGNC ENSG00000082175 36 0 0 22 12 35.2941 TRPC6 0 genome.wustl.edu 37 11 101374812 101374812 + Silent SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 101374812 101374812 C A SNP TRPC6 ENST00000344327 human ensembl 74_37 -1 known silent c.888 p.T296 0.936 pfam_TRP_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 265 1 0.37594 166 48 22.4299 SBF2 0 genome.wustl.edu 37 11 10215523 10215523 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 10215523 10215523 C A SNP SBF2 ENST00000256190 human ensembl 74_37 -1 known missense c.67 p.G23C 1.000 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF2 HGNC ENSG00000133812 89 0 0 54 4 6.89655 CASP5 0 genome.wustl.edu 37 11 104879548 104879548 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 104879548 104879548 G A SNP CASP5 ENST00000393141 human ensembl 74_37 -1 known missense c.206 p.S69L 0.000 smart_CARD,pfscan_CARD pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP5 HGNC ENSG00000137757 70 0 0 31 9 22.5 AMPD3 0 genome.wustl.edu 37 11 10517270 10517270 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 10517270 10517270 C T SNP AMPD3 ENST00000396553 human ensembl 74_37 +1 known missense c.1420 p.P474S 1.000 pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD3 HGNC ENSG00000133805 62 0 0 31 11 26.1905 GRIA4 0 genome.wustl.edu 37 11 105483047 105483047 + Nonsense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 105483047 105483047 C T SNP GRIA4 ENST00000282499 human ensembl 74_37 +1 known nonsense c.133 p.R45* 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA4 HGNC ENSG00000152578 118 0 0 82 31 27.4336 GUCY1A2 0 genome.wustl.edu 37 11 106888515 106888515 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 106888515 106888515 C T SNP GUCY1A2 ENST00000282249 human ensembl 74_37 -1 known silent c.267 p.S89 0.980 NULL pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A2 HGNC ENSG00000152402 17 0 0 9 5 35.7143 ZC3H12C 0 genome.wustl.edu 37 11 110035459 110035459 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 110035459 110035459 C A SNP ZC3H12C ENST00000278590 human ensembl 74_37 +1 known missense c.1649 p.P550H 1.000 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12C HGNC ENSG00000149289 108 1 0.917431 88 6 6.38298 APOA4 0 genome.wustl.edu 37 11 116691900 116691900 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 116691900 116691900 G T SNP APOA4 ENST00000357780 human ensembl 74_37 -1 known missense c.874 p.L292M 1.000 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA4 HGNC ENSG00000110244 131 0 0 34 58 63.0435 SIDT2 0 genome.wustl.edu 37 11 117063027 117063027 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 117063027 117063027 G A SNP SIDT2 ENST00000278951 human ensembl 74_37 +1 known missense c.1993 p.A665T 0.993 NULL NULL - no_errors SIDT2 HGNC ENSG00000149577 131 0 0 121 42 25.7669 DSCAML1 0 genome.wustl.edu 37 11 117403175 117403175 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 117403175 117403175 C T SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.754 p.A252T 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 127 0 0 102 32 23.8806 UBE4A 0 genome.wustl.edu 37 11 118245827 118245827 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 118245827 118245827 C A SNP UBE4A ENST00000431736 human ensembl 74_37 +1 known missense c.1354 p.L452I 1.000 pfam_Ub_conjug_fac_E4_core pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4A HGNC ENSG00000110344 93 0 0 94 18 16.0714 BCL9L 0 genome.wustl.edu 37 11 118772051 118772051 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 118772051 118772051 G A SNP BCL9L ENST00000334801 human ensembl 74_37 -1 known missense c.2401 p.R801W 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 93 0 0 73 12 14.1176 BCL9L 0 genome.wustl.edu 37 11 118773102 118773102 + Silent SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 118773102 118773102 G T SNP BCL9L ENST00000334801 human ensembl 74_37 -1 known silent c.1350 p.P450 0.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 59 0 0 42 13 23.6364 USP47 0 genome.wustl.edu 37 11 11957978 11957978 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 11957978 11957978 C T SNP USP47 ENST00000399455 human ensembl 74_37 +1 known silent c.2058 p.G686 0.674 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP47 HGNC ENSG00000170242 105 0 0 61 21 25.6098 USP47 0 genome.wustl.edu 37 11 11969622 11969622 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 11969622 11969622 C T SNP USP47 ENST00000399455 human ensembl 74_37 +1 known silent c.3282 p.S1094 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP47 HGNC ENSG00000170242 141 0 0 60 25 29.4118 GRIK4 0 genome.wustl.edu 37 11 120744855 120744855 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 120744855 120744855 C T SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known silent c.987 p.G329 0.942 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 72 0 0 67 17 20.2381 TECTA 0 genome.wustl.edu 37 11 120980049 120980049 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 120980049 120980049 G A SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.328 p.E110K 1.000 smart_Nidogen_extracell_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 77 0 0 95 7 6.86275 TECTA 0 genome.wustl.edu 37 11 121000442 121000442 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 121000442 121000442 C T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known silent c.2463 p.G821 0.001 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 245 0 0 204 48 19.0476 TECTA 0 genome.wustl.edu 37 11 121000757 121000757 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 121000757 121000757 C T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known silent c.2778 p.C926 1.000 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 119 0 0 106 22 17.1875 TECTA 0 genome.wustl.edu 37 11 121016728 121016728 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 121016728 121016728 C T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known silent c.4008 p.G1336 0.002 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 273 0 0 285 48 14.4144 SORL1 0 genome.wustl.edu 37 11 121358756 121358756 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 121358756 121358756 G A SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.544 p.A182T 0.935 smart_VPS10 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 646 0 0 497 130 20.7337 SORL1 0 genome.wustl.edu 37 11 121421293 121421293 + Splice_Site SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 121421293 121421293 G A SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known splice_site c.2181-1 e16-1 1.000 - - - no_errors SORL1 HGNC ENSG00000137642 67 0 0 49 22 30.9859 MUC5AC 0 genome.wustl.edu 37 11 1216371 1216371 + RNA SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 1216371 1216371 G A SNP MUC5AC ENST00000358378 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors MUC5AC HGNC ENSG00000215182 48 0 0 27 6 18.1818 MICAL2 0 genome.wustl.edu 37 11 12234849 12234849 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 12234849 12234849 G A SNP MICAL2 ENST00000256194 human ensembl 74_37 +1 known missense c.739 p.A247T 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 229 1 0.434783 81 34 29.5652 C11orf63 0 genome.wustl.edu 37 11 122756890 122756890 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 122756890 122756890 C T SNP C11orf63 ENST00000227349 human ensembl 74_37 +1 known silent c.333 p.G111 0.000 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 102 0 0 29 16 35.5556 MICAL2 0 genome.wustl.edu 37 11 12281414 12281414 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 12281414 12281414 G A SNP MICAL2 ENST00000256194 human ensembl 74_37 +1 known missense c.3304 p.A1102T 0.162 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 80 0 0 28 16 36.3636 ROBO3 0 genome.wustl.edu 37 11 124747437 124747437 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 124747437 124747437 G A SNP ROBO3 ENST00000397801 human ensembl 74_37 +1 known missense c.2869 p.A957T 0.641 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO3 HGNC ENSG00000154134 17 0 0 8 3 27.2727 MUC5B 0 genome.wustl.edu 37 11 1261607 1261607 + Splice_Site SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 1261607 1261607 T C SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known splice_site c.3979+2 e30+2 0.300 - - - no_errors MUC5B HGNC ENSG00000117983 128 0 0 59 17 22.3684 IGSF9B 0 genome.wustl.edu 37 11 133792519 133792519 + Silent SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 133792519 133792519 G T SNP IGSF9B ENST00000321016 human ensembl 74_37 -1 known silent c.2226 p.T742 0.985 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9B HGNC ENSG00000080854 28 0 0 7 3 30 LDHA 0 genome.wustl.edu 37 11 18422497 18422497 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 18422497 18422497 A C SNP LDHA ENST00000540430 human ensembl 74_37 +1 known missense c.445 p.I149L 1.000 pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHA HGNC ENSG00000134333 76 0 0 46 15 24.5902 IGF2 0 genome.wustl.edu 37 11 2156684 2156684 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 2156684 2156684 C T SNP IGF2 ENST00000434045 human ensembl 74_37 -1 known missense c.238 p.A80T 0.913 superfamily_Insulin-like pfam_IGF2_C,pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_IGF2,prints_Insulin_family,prints_Insulin-like_growth_factor - no_errors IGF2 HGNC ENSG00000167244 107 0 0 49 11 18.3333 MUC15 0 genome.wustl.edu 37 11 26586878 26586878 + Silent SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 26586878 26586878 A C SNP MUC15 ENST00000436318 human ensembl 74_37 -1 known silent c.609 p.T203 0.000 NULL NULL - no_errors MUC15 HGNC ENSG00000169550 120 0 0 58 20 25.641 ANO3 0 genome.wustl.edu 37 11 26664848 26664848 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 26664848 26664848 C T SNP ANO3 ENST00000256737 human ensembl 74_37 +1 known missense c.2395 p.R799W 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO3 HGNC ENSG00000134343 106 0 0 67 20 22.9885 PAX6 0 genome.wustl.edu 37 11 31822286 31822286 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 31822286 31822286 C T SNP PAX6 ENST00000379107 human ensembl 74_37 -1 known missense c.518 p.R173H 1.000 NULL pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX6 HGNC ENSG00000007372 217 0 0 95 32 25.1969 DEPDC7 0 genome.wustl.edu 37 11 33050184 33050184 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 33050184 33050184 C T SNP DEPDC7 ENST00000241051 human ensembl 74_37 +1 known missense c.628 p.R210C 1.000 NULL pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC7 HGNC ENSG00000121690 95 0 0 45 8 15.0943 TSSC2 0 genome.wustl.edu 37 11 3423071 3423071 + RNA SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 3423071 3423071 C T SNP TSSC2 ENST00000529482 human ensembl 74_37 +1 known rna NULL NULL 0.076 - - - no_errors TSSC2 HGNC ENSG00000223756 37 0 0 19 5 20.8333 ELF5 0 genome.wustl.edu 37 11 34527192 34527192 + Silent SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 34527192 34527192 G T SNP ELF5 ENST00000312319 human ensembl 74_37 -1 known silent c.135 p.A45 1.000 superfamily_SAM/pointed,smart_Pointed_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF5 HGNC ENSG00000135374 196 0 0 87 27 23.6842 CD44 0 genome.wustl.edu 37 11 35198160 35198160 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 35198160 35198160 G A SNP CD44 ENST00000428726 human ensembl 74_37 +1 known missense c.106 p.V36M 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_CD44_antigen pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_CD44_antigen,prints_Link - no_errors CD44 HGNC ENSG00000026508 75 0 0 44 15 25.4237 PAMR1 0 genome.wustl.edu 37 11 35515662 35515662 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 35515662 35515662 A G SNP PAMR1 ENST00000278360 human ensembl 74_37 -1 known missense c.232 p.S78P 1.000 NULL pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_EG-like_dom,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors PAMR1 HGNC ENSG00000149090 151 0 0 92 41 30.8271 PGAP2 0 genome.wustl.edu 37 11 3845620 3845620 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 3845620 3845620 C A SNP PGAP2 ENST00000493547 human ensembl 74_37 +1 novel missense c.539 p.P180H 0.675 NULL pfam_Frag1/DRAM/Sfk1 - no_errors PGAP2 HGNC ENSG00000148985 137 0 0 59 20 25.3165 PGAP2 0 genome.wustl.edu 37 11 3846314 3846314 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 3846314 3846314 C T SNP PGAP2 ENST00000278243 human ensembl 74_37 +1 known missense c.773 p.A258V 0.998 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors PGAP2 HGNC ENSG00000148985 155 0 0 67 20 22.9885 RHOG 0 genome.wustl.edu 37 11 3849243 3849243 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 3849243 3849243 C T SNP RHOG ENST00000351018 human ensembl 74_37 -1 known silent c.126 p.A42 0.998 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOG HGNC ENSG00000177105 88 0 0 67 5 6.94444 SIGIRR 0 genome.wustl.edu 37 11 408790 408790 + Silent SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 408790 408790 G T SNP SIGIRR ENST00000382520 human ensembl 74_37 -1 known silent c.111 p.V37 0.002 pfscan_Ig-like_dom pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors SIGIRR HGNC ENSG00000185187 204 0 0 92 24 20.6897 ACCSL 0 genome.wustl.edu 37 11 44081393 44081393 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 44081393 44081393 C T SNP ACCSL ENST00000378832 human ensembl 74_37 +1 known missense c.1630 p.R544C 0.127 superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCSL HGNC ENSG00000205126 597 1 0.167224 307 91 22.8643 TRIM21 0 genome.wustl.edu 37 11 4409697 4409697 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 4409697 4409697 C T SNP TRIM21 ENST00000254436 human ensembl 74_37 -1 known missense c.568 p.V190I 0.135 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Ubox_domain,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM21 HGNC ENSG00000132109 396 1 0.251889 211 69 24.6429 TRIM21 0 genome.wustl.edu 37 11 4411368 4411368 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 4411368 4411368 C T SNP TRIM21 ENST00000254436 human ensembl 74_37 -1 known missense c.272 p.R91Q 0.000 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Ubox_domain,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM21 HGNC ENSG00000132109 91 0 0 62 23 27.0588 CHST1 0 genome.wustl.edu 37 11 45671251 45671251 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 45671251 45671251 C T SNP CHST1 ENST00000308064 human ensembl 74_37 -1 known missense c.1223 p.R408H 0.998 pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC ENSG00000175264 126 0 0 76 19 20 SLC35C1 0 genome.wustl.edu 37 11 45832610 45832610 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 45832610 45832610 C T SNP SLC35C1 ENST00000314134 human ensembl 74_37 +1 known silent c.819 p.G273 0.038 pfam_Tpt_PEP_trans_dom,pfam_UAA pfam_Tpt_PEP_trans_dom,pfam_UAA,pfam_DMT - no_errors SLC35C1 HGNC ENSG00000181830 94 0 0 51 23 31.0811 PEX16 0 genome.wustl.edu 37 11 45936019 45936019 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 45936019 45936019 G A SNP PEX16 ENST00000241041 human ensembl 74_37 -1 known missense c.542 p.T181M 0.989 pfam_Pex16 pfam_Pex16 - no_errors PEX16 HGNC ENSG00000121680 61 0 0 30 16 34.7826 PEX16 0 genome.wustl.edu 37 11 45937794 45937794 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 45937794 45937794 C T SNP PEX16 ENST00000241041 human ensembl 74_37 -1 known missense c.209 p.R70Q 0.942 pfam_Pex16 pfam_Pex16 - no_errors PEX16 HGNC ENSG00000121680 386 1 0.258398 120 147 55.0562 DGKZ 0 genome.wustl.edu 37 11 46389218 46389218 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 46389218 46389218 G T SNP DGKZ ENST00000454345 human ensembl 74_37 +1 known missense c.854 p.G285V 1.000 smart_Prot_Kinase_C-like_PE/DAG-bd pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKZ HGNC ENSG00000149091 83 0 0 31 14 31.1111 F2 0 genome.wustl.edu 37 11 46748106 46748106 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 46748106 46748106 C T SNP F2 ENST00000311907 human ensembl 74_37 +1 known silent c.933 p.I311 0.000 pirsf_Prothrombin/thrombin pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain - no_errors F2 HGNC ENSG00000180210 113 1 0.877193 35 33 48.5294 F2 0 genome.wustl.edu 37 11 46751085 46751085 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 46751085 46751085 G A SNP F2 ENST00000311907 human ensembl 74_37 +1 known missense c.1628 p.R543H 0.967 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain - no_errors F2 HGNC ENSG00000180210 117 0 0 63 18 22.2222 PACSIN3 0 genome.wustl.edu 37 11 47202114 47202114 + Nonsense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 47202114 47202114 C T SNP PACSIN3 ENST00000298838 human ensembl 74_37 -1 known nonsense c.339 p.W113* 1.000 NULL pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PACSIN3 HGNC ENSG00000165912 94 0 0 46 21 31.3433 FNBP4 0 genome.wustl.edu 37 11 47776173 47776173 + Silent SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 47776173 47776173 A G SNP FNBP4 ENST00000263773 human ensembl 74_37 -1 known silent c.357 p.D119 0.832 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors FNBP4 HGNC ENSG00000109920 112 0 0 82 7 7.86517 PTPRJ 0 genome.wustl.edu 37 11 48146561 48146561 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 48146561 48146561 G A SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known missense c.916 p.A306T 0.000 smart_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 433 0 0 216 92 29.8701 PTPRJ 0 genome.wustl.edu 37 11 48152048 48152048 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 48152048 48152048 C T SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known silent c.1395 p.V465 0.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 83 0 0 46 13 22.0339 OR4X1 0 genome.wustl.edu 37 11 48285736 48285736 + Silent SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 48285736 48285736 T G SNP OR4X1 ENST00000320048 human ensembl 74_37 +1 known silent c.324 p.T108 0.042 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 OR4X1 HGNC ENSG00000176567 94 0 0 51 17 25 LOC440040 0 genome.wustl.edu 37 11 49831752 49831752 + RNA SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 49831752 49831752 T C SNP LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 0.663 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 296 0 0 179 49 21.4912 LOC440040 0 genome.wustl.edu 37 11 49831882 49831882 + RNA SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 49831882 49831882 A C SNP LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 0.666 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 100 0 0 39 20 33.8983 OR4C46 0 genome.wustl.edu 37 11 51515685 51515685 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 51515685 51515685 A C SNP OR4C46 ENST00000328188 human ensembl 74_37 +1 known missense c.404 p.N135T 0.735 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 OR4C46 HGNC ENSG00000185926 188 0 0 94 47 33.3333 TRIM48 0 genome.wustl.edu 37 11 55033087 55033087 + Silent SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 55033087 55033087 A G SNP TRIM48 ENST00000417545 human ensembl 74_37 +1 known silent c.471 p.L157 0.019 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM48 HGNC ENSG00000150244 43 0 0 10 15 60 LRRC56 0 genome.wustl.edu 37 11 554076 554076 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 554076 554076 C T SNP LRRC56 ENST00000270115 human ensembl 74_37 +1 known missense c.1429 p.R477C 0.002 NULL NULL - no_errors LRRC56 HGNC ENSG00000161328 121 0 0 61 26 29.8851 OR5J2 0 genome.wustl.edu 37 11 55944805 55944805 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 55944805 55944805 T G SNP OR5J2 ENST00000312298 human ensembl 74_37 +1 known missense c.712 p.F238V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR5J2 HGNC ENSG00000174957 135 0 0 94 29 23.5772 OR5T3 0 genome.wustl.edu 37 11 56020329 56020329 + Silent SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 56020329 56020329 T G SNP OR5T3 ENST00000303059 human ensembl 74_37 +1 known silent c.654 p.S218 0.000 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 OR5T3 HGNC ENSG00000172489 326 0 0 189 56 22.8571 OR5M3 0 genome.wustl.edu 37 11 56237670 56237670 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 56237670 56237670 A C SNP OR5M3 ENST00000312240 human ensembl 74_37 -1 known missense c.304 p.F102V 0.766 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 OR5M3 HGNC ENSG00000174937 159 0 0 87 31 26.2712 OR5M3 0 genome.wustl.edu 37 11 56237805 56237805 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 56237805 56237805 T C SNP OR5M3 ENST00000312240 human ensembl 74_37 -1 known missense c.169 p.M57V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M3 HGNC ENSG00000174937 191 0 0 100 36 26.4706 OR5AP2 0 genome.wustl.edu 37 11 56409116 56409116 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 56409116 56409116 C T SNP OR5AP2 ENST00000544374 human ensembl 74_37 -1 known missense c.803 p.R268H 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AP2 HGNC ENSG00000172464 86 0 0 63 5 7.35294 OR9G1 0 genome.wustl.edu 37 11 56468771 56468771 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 56468771 56468771 T G SNP OR9G1 ENST00000312153 human ensembl 74_37 +1 known missense c.908 p.L303R 0.964 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9G1 HGNC ENSG00000174914 92 0 0 70 9 11.3924 OR9Q1 0 genome.wustl.edu 37 11 57947126 57947126 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 57947126 57947126 C T SNP OR9Q1 ENST00000335397 human ensembl 74_37 +1 known silent c.210 p.D70 0.974 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9Q1 HGNC ENSG00000186509 209 0 0 139 32 18.7135 OR52N1 0 genome.wustl.edu 37 11 5810019 5810019 + Missense_Mutation SNP T T A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 5810019 5810019 T A SNP OR52N1 ENST00000317078 human ensembl 74_37 -1 known missense c.28 p.T10S 0.242 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR52N1 HGNC ENSG00000181001 75 0 0 46 10 17.8571 MS4A15 0 genome.wustl.edu 37 11 60543165 60543165 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 60543165 60543165 G A SNP MS4A15 ENST00000405633 human ensembl 74_37 +1 known missense c.700 p.A234T 1.000 NULL pfam_CD20-like - no_errors MS4A15 HGNC ENSG00000166961 312 0 0 149 59 28.3654 TMEM109 0 genome.wustl.edu 37 11 60688430 60688430 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 60688430 60688430 G A SNP TMEM109 ENST00000227525 human ensembl 74_37 +1 known missense c.310 p.A104T 0.164 NULL NULL - no_errors TMEM109 HGNC ENSG00000110108 195 0 0 96 28 22.5806 PGA5 0 genome.wustl.edu 37 11 61017282 61017282 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 61017282 61017282 C T SNP PGA5 ENST00000312403 human ensembl 74_37 +1 known silent c.915 p.G305 0.000 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors PGA5 HGNC ENSG00000256713 467 0 0 273 55 16.7683 VWCE 0 genome.wustl.edu 37 11 61048268 61048268 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 61048268 61048268 G A SNP VWCE ENST00000335613 human ensembl 74_37 -1 known silent c.1227 p.C409 0.025 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_VWF_C,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C - no_errors VWCE HGNC ENSG00000167992 29 0 0 19 8 29.6296 DAGLA 0 genome.wustl.edu 37 11 61491028 61491028 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 61491028 61491028 C T SNP DAGLA ENST00000257215 human ensembl 74_37 +1 known missense c.532 p.R178W 1.000 NULL pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 192 0 0 87 28 24.3478 FTH1 0 genome.wustl.edu 37 11 61732559 61732559 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 61732559 61732559 C A SNP FTH1 ENST00000273550 human ensembl 74_37 -1 known missense c.287 p.S96I 0.883 pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron - no_errors FTH1 HGNC ENSG00000167996 280 0 0 138 54 28.125 AHNAK 0 genome.wustl.edu 37 11 62287566 62287566 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 62287566 62287566 C T SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.14323 p.D4775N 0.924 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 403 0 0 211 67 24.1007 EML3 0 genome.wustl.edu 37 11 62378607 62378607 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 62378607 62378607 C T SNP EML3 ENST00000529309 human ensembl 74_37 -1 known missense c.404 p.G135D 0.997 NULL pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML3 HGNC ENSG00000149499 29 0 0 7 8 53.3333 CCKBR 0 genome.wustl.edu 37 11 6291368 6291368 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 6291368 6291368 C T SNP CCKBR ENST00000525462 human ensembl 74_37 +1 known missense c.454 p.R152W 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 68 0 0 40 12 23.0769 SLC22A10 0 genome.wustl.edu 37 11 63064880 63064880 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 63064880 63064880 C A SNP SLC22A10 ENST00000332793 human ensembl 74_37 +1 known missense c.612 p.F204L 0.921 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A10 HGNC ENSG00000184999 158 0 0 88 23 20.7207 SLC22A11 0 genome.wustl.edu 37 11 64329769 64329769 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 64329769 64329769 C T SNP SLC22A11 ENST00000301891 human ensembl 74_37 +1 known missense c.683 p.A228V 0.692 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A11 HGNC ENSG00000168065 148 0 0 74 22 22.9167 NRXN2 0 genome.wustl.edu 37 11 64453195 64453195 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 64453195 64453195 C T SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known missense c.1075 p.A359T 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 243 0 0 117 36 23.5294 CDC42BPG 0 genome.wustl.edu 37 11 64597001 64597001 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 64597001 64597001 G A SNP CDC42BPG ENST00000342711 human ensembl 74_37 -1 known silent c.3909 p.G1303 0.000 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPG HGNC ENSG00000171219 38 0 0 35 6 14.6341 CDC42BPG 0 genome.wustl.edu 37 11 64597443 64597443 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 64597443 64597443 C T SNP CDC42BPG ENST00000342711 human ensembl 74_37 -1 known missense c.3467 p.R1156H 1.000 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPG HGNC ENSG00000171219 107 0 0 54 15 21.7391 HPX 0 genome.wustl.edu 37 11 6461447 6461447 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 6461447 6461447 C T SNP HPX ENST00000265983 human ensembl 74_37 -1 known missense c.284 p.S95N 0.000 pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Hemopexin_chordata pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Hemopexin_chordata - no_errors HPX HGNC ENSG00000110169 101 0 0 50 23 31.5068 PCNXL3 0 genome.wustl.edu 37 11 65391432 65391432 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 65391432 65391432 C T SNP PCNXL3 ENST00000355703 human ensembl 74_37 +1 known silent c.2544 p.H848 0.992 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 106 0 0 61 22 26.506 CATSPER1 0 genome.wustl.edu 37 11 65789099 65789099 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 65789099 65789099 G A SNP CATSPER1 ENST00000312106 human ensembl 74_37 -1 known missense c.1559 p.A520V 0.750 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER1 HGNC ENSG00000175294 26 0 0 22 4 15.3846 NPAS4 0 genome.wustl.edu 37 11 66190222 66190222 + Nonsense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 66190222 66190222 C T SNP NPAS4 ENST00000311034 human ensembl 74_37 +1 known nonsense c.508 p.R170* 1.000 NULL pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 149 0 0 90 40 30.7692 RBM14 0 genome.wustl.edu 37 11 66393136 66393136 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 66393136 66393136 G A SNP RBM14 ENST00000310137 human ensembl 74_37 +1 known missense c.1789 p.A597T 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM14 HGNC ENSG00000239306 57 0 0 28 19 40.4255 PITPNM1 0 genome.wustl.edu 37 11 67266215 67266215 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 67266215 67266215 C T SNP PITPNM1 ENST00000356404 human ensembl 74_37 -1 known missense c.1336 p.A446T 0.133 NULL pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 107 0 0 57 22 27.8481 PITPNM1 0 genome.wustl.edu 37 11 67266285 67266285 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 67266285 67266285 C A SNP PITPNM1 ENST00000356404 human ensembl 74_37 -1 known missense c.1266 p.E422D 0.998 NULL pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 99 0 0 52 19 26.7606 ALDH3B2 0 genome.wustl.edu 37 11 67434057 67434057 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 67434057 67434057 C T SNP ALDH3B2 ENST00000349015 human ensembl 74_37 -1 known missense c.139 p.A47T 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH3B2 HGNC ENSG00000132746 77 0 0 38 18 32.1429 LRP5 0 genome.wustl.edu 37 11 68125290 68125290 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 68125290 68125290 C T SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known missense c.661 p.R221C 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 48 0 0 14 7 33.3333 PPP6R3 0 genome.wustl.edu 37 11 68369411 68369411 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 68369411 68369411 C T SNP PPP6R3 ENST00000393799 human ensembl 74_37 +1 known missense c.2273 p.A758V 0.004 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R3 HGNC ENSG00000110075 147 0 0 99 24 19.5122 MTL5 0 genome.wustl.edu 37 11 68475967 68475967 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 68475967 68475967 G A SNP MTL5 ENST00000255087 human ensembl 74_37 -1 known missense c.1336 p.R446W 0.159 NULL pfam_CRC,superfamily_Thionin - no_errors MTL5 HGNC ENSG00000132749 42 0 0 27 10 27.027 IGHMBP2 0 genome.wustl.edu 37 11 68673617 68673617 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 68673617 68673617 G A SNP IGHMBP2 ENST00000255078 human ensembl 74_37 +1 known missense c.167 p.R56H 1.000 tigrfam_DNA_helicase_put pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put - no_errors IGHMBP2 HGNC ENSG00000132740 146 0 0 65 26 28.5714 MRGPRD 0 genome.wustl.edu 37 11 68747523 68747523 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 68747523 68747523 C T SNP MRGPRD ENST00000309106 human ensembl 74_37 -1 known silent c.933 p.T311 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRD HGNC ENSG00000172938 115 0 0 56 18 24.3243 NUMA1 0 genome.wustl.edu 37 11 71724998 71724998 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 71724998 71724998 G A SNP NUMA1 ENST00000393695 human ensembl 74_37 -1 known missense c.3551 p.A1184V 0.053 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 109 0 0 55 31 36.0465 FOLR3 0 genome.wustl.edu 37 11 71847078 71847078 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 71847078 71847078 C T SNP FOLR3 ENST00000456237 human ensembl 74_37 +1 known missense c.80 p.A27V 0.000 NULL pfam_Folate_rcpt-like - no_errors FOLR3 HGNC ENSG00000110203 258 0 0 159 36 18.4615 INPPL1 0 genome.wustl.edu 37 11 71942042 71942042 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 71942042 71942042 G A SNP INPPL1 ENST00000298229 human ensembl 74_37 +1 known missense c.1306 p.V436I 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 ENSG00000165458 162 0 0 107 28 20.7407 ENSG00000266866 0 genome.wustl.edu 37 11 73068267 73068267 + RNA SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 73068267 73068267 G A SNP ENSG00000266866 ENST00000582555 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AP002761.1 Clone_based_ensembl_gene ENSG00000266866 59 0 0 33 16 32.6531 RELT 0 genome.wustl.edu 37 11 73105738 73105738 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 73105738 73105738 G T SNP RELT ENST00000064780 human ensembl 74_37 +1 known missense c.1005 p.K335N 0.993 NULL pfam_TNF_rcpt_RELT,prints_TNFR_19-like - no_errors RELT HGNC ENSG00000054967 64 0 0 50 7 12.2807 PLEKHB1 0 genome.wustl.edu 37 11 73372524 73372524 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 73372524 73372524 G A SNP PLEKHB1 ENST00000354190 human ensembl 74_37 +1 known silent c.609 p.T203 0.998 NULL smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHB1 HGNC ENSG00000021300 70 0 0 31 8 20.5128 XRRA1 0 genome.wustl.edu 37 11 74617353 74617353 + Missense_Mutation SNP T T A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 74617353 74617353 T A SNP XRRA1 ENST00000340360 human ensembl 74_37 -1 known missense c.910 p.M304L 0.027 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC ENSG00000166435 64 0 0 57 4 6.55738 C11orf30 0 genome.wustl.edu 37 11 76261110 76261110 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 76261110 76261110 G A SNP C11orf30 ENST00000334736 human ensembl 74_37 +1 known missense c.3889 p.A1297T 0.909 NULL pfam_ENT_N,pfscan_ENT_N - no_errors C11orf30 HGNC ENSG00000158636 78 0 0 37 8 17.7778 OR5P2 0 genome.wustl.edu 37 11 7817741 7817741 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 7817741 7817741 G A SNP OR5P2 ENST00000329434 human ensembl 74_37 -1 known missense c.749 p.T250I 0.332 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5P2 HGNC ENSG00000183303 143 0 0 71 21 22.8261 NLRP10 0 genome.wustl.edu 37 11 7982833 7982833 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 7982833 7982833 A G SNP NLRP10 ENST00000328600 human ensembl 74_37 -1 known missense c.326 p.L109P 0.002 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP10 HGNC ENSG00000182261 123 0 0 75 35 31.8182 SYTL2 0 genome.wustl.edu 37 11 85407243 85407243 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 85407243 85407243 C T SNP SYTL2 ENST00000359152 human ensembl 74_37 -1 known missense c.5180 p.R1727H 1.000 superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYTL2 HGNC ENSG00000137501 152 0 0 82 25 23.3645 CCDC83 0 genome.wustl.edu 37 11 85626507 85626507 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 85626507 85626507 A C SNP CCDC83 ENST00000280245 human ensembl 74_37 +1 known missense c.933 p.E311D 0.001 NULL NULL - no_errors CCDC83 HGNC ENSG00000150676 97 0 0 59 23 28.0488 ST5 0 genome.wustl.edu 37 11 8751553 8751553 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 8751553 8751553 C T SNP ST5 ENST00000313726 human ensembl 74_37 -1 known silent c.1284 p.P428 0.998 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors ST5 HGNC ENSG00000166444 573 0 0 308 109 26.1391 FAT3 0 genome.wustl.edu 37 11 92258014 92258014 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 92258014 92258014 G A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.3507 p.Q1169 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 56 0 0 20 13 39.3939 HEPHL1 0 genome.wustl.edu 37 11 93800812 93800812 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 93800812 93800812 C T SNP HEPHL1 ENST00000315765 human ensembl 74_37 +1 known missense c.959 p.T320I 1.000 pfam_Cu-oxidase_2,superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPHL1 HGNC ENSG00000181333 195 0 0 109 42 27.8146 MTMR2 0 genome.wustl.edu 37 11 95598680 95598680 + RNA SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 95598680 95598680 A C SNP MTMR2 ENST00000472423 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MTMR2 HGNC ENSG00000087053 46 0 0 26 14 35 AP2A2 0 genome.wustl.edu 37 11 970244 970244 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 970244 970244 A G SNP AP2A2 ENST00000332231 human ensembl 74_37 +1 known missense c.212 p.D71G 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A2 HGNC ENSG00000183020 123 0 0 63 24 27.5862 ACTR6 0 genome.wustl.edu 37 12 100613858 100613858 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 100613858 100613858 G A SNP ACTR6 ENST00000188312 human ensembl 74_37 +1 known missense c.995 p.R332Q 0.998 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR6 HGNC ENSG00000075089 109 0 0 65 26 28.5714 SLC17A8 0 genome.wustl.edu 37 12 100813745 100813745 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 100813745 100813745 C T SNP SLC17A8 ENST00000323346 human ensembl 74_37 +1 known silent c.1578 p.D526 0.999 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A8 HGNC ENSG00000179520 62 0 0 24 8 25 ANO4 0 genome.wustl.edu 37 12 101430912 101430912 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 101430912 101430912 C T SNP ANO4 ENST00000392977 human ensembl 74_37 +1 known missense c.881 p.A294V 1.000 NULL pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 205 0 0 133 9 6.33803 UTP20 0 genome.wustl.edu 37 12 101723149 101723149 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 101723149 101723149 C T SNP UTP20 ENST00000261637 human ensembl 74_37 +1 known silent c.3339 p.S1113 0.032 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 156 0 0 72 26 26.5306 GNPTAB 0 genome.wustl.edu 37 12 102155084 102155084 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 102155084 102155084 G A SNP GNPTAB ENST00000299314 human ensembl 74_37 -1 known missense c.2956 p.R986C 1.000 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 153 1 0.649351 99 27 21.4286 CLEC1A 0 genome.wustl.edu 37 12 10233962 10233962 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 10233962 10233962 T C SNP CLEC1A ENST00000315330 human ensembl 74_37 -1 known missense c.265 p.M89V 0.800 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC1A HGNC ENSG00000150048 86 0 0 84 20 19.2308 TXNRD1 0 genome.wustl.edu 37 12 104732931 104732931 + Silent SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 104732931 104732931 C A SNP TXNRD1 ENST00000429002 human ensembl 74_37 +1 known silent c.1761 p.G587 0.997 pfam_Pyr_nucl-diS_OxRdtase_dimer,superfamily_FAD/NAD-linked_Rdtase_dimer,tigrfam_Thioredoxin/glutathione_Rdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD1 HGNC ENSG00000198431 52 0 0 33 7 17.5 KLRC1 0 genome.wustl.edu 37 12 10603633 10603633 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 10603633 10603633 C T SNP KLRC1 ENST00000359151 human ensembl 74_37 -1 known silent c.123 p.A41 0.004 NULL pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRC1 HGNC ENSG00000134545 150 0 0 106 24 18.4615 YBX3 0 genome.wustl.edu 37 12 10856665 10856665 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 10856665 10856665 C T SNP YBX3 ENST00000228251 human ensembl 74_37 -1 known missense c.863 p.R288H 1.000 NULL pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot,prints_CSP_DNA-bd - no_errors YBX3 HGNC ENSG00000060138 118 0 0 57 24 29.6296 ACACB 0 genome.wustl.edu 37 12 109577565 109577565 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 109577565 109577565 G A SNP ACACB ENST00000338432 human ensembl 74_37 +1 known missense c.355 p.G119R 0.000 NULL pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 332 0 0 119 60 33.5196 TAS2R14 0 genome.wustl.edu 37 12 11091555 11091555 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 11091555 11091555 C T SNP TAS2R14 ENST00000537503 human ensembl 74_37 -1 known missense c.252 p.M84I 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R14 HGNC ENSG00000212127 52 0 0 30 7 18.9189 PRR4 0 genome.wustl.edu 37 12 11126227 11126227 + RNA SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 11126227 11126227 C A SNP PRR4 ENST00000534923 human ensembl 74_37 -1 known rna NULL NULL 0.027 - - - no_errors PRR4 HGNC ENSG00000111215 30 0 0 19 5 20.8333 ALDH2 0 genome.wustl.edu 37 12 112235973 112235973 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 112235973 112235973 C T SNP ALDH2 ENST00000261733 human ensembl 74_37 +1 known missense c.1175 p.A392V 0.990 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH2 HGNC ENSG00000111275 98 0 0 38 16 29.6296 RPL6 0 genome.wustl.edu 37 12 112843672 112843672 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 112843672 112843672 G A SNP RPL6 ENST00000202773 human ensembl 74_37 -1 known silent c.699 p.F233 1.000 pfam_60S_ribosomal_L6E,superfamily_Translation_prot_SH3-like pfam_60S_ribosomal_L6E,pfam_Ribosomal_L6_N,superfamily_Translation_prot_SH3-like - no_errors RPL6 HGNC ENSG00000089009 78 0 0 56 10 15.1515 OAS1 0 genome.wustl.edu 37 12 113348938 113348938 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 113348938 113348938 C T SNP OAS1 ENST00000445409 human ensembl 74_37 +1 known silent c.552 p.G184 0.999 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS1 HGNC ENSG00000089127 113 0 0 74 17 18.6813 DDX54 0 genome.wustl.edu 37 12 113603681 113603681 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 113603681 113603681 G A SNP DDX54 ENST00000314045 human ensembl 74_37 -1 known missense c.1571 p.P524L 0.998 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DBP10CT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX54 HGNC ENSG00000123064 93 0 0 44 22 33.3333 NOS1 0 genome.wustl.edu 37 12 117672391 117672391 + Missense_Mutation SNP C C G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 117672391 117672391 C G SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.3214 p.E1072Q 1.000 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 100 0 0 54 29 34.9398 NOS1 0 genome.wustl.edu 37 12 117768790 117768790 + Nonsense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 117768790 117768790 C A SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known nonsense c.85 p.G29* 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 120 0 0 70 22 23.913 VSIG10 0 genome.wustl.edu 37 12 118511549 118511549 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 118511549 118511549 T G SNP VSIG10 ENST00000359236 human ensembl 74_37 -1 known missense c.1174 p.S392R 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VSIG10 HGNC ENSG00000176834 111 0 0 57 21 26.9231 P2RX7 0 genome.wustl.edu 37 12 121603953 121603953 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 121603953 121603953 G A SNP P2RX7 ENST00000546057 human ensembl 74_37 +1 known missense c.707 p.R236Q 0.617 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X7_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX7 HGNC ENSG00000089041 338 0 0 199 73 26.8382 CLIP1 0 genome.wustl.edu 37 12 122845618 122845618 + Missense_Mutation SNP C C G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 122845618 122845618 C G SNP CLIP1 ENST00000540338 human ensembl 74_37 -1 known missense c.893 p.R298P 1.000 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain - no_errors CLIP1 HGNC ENSG00000130779 106 0 0 51 18 26.087 HCAR2 0 genome.wustl.edu 37 12 123187301 123187301 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 123187301 123187301 C T SNP HCAR2 ENST00000328880 human ensembl 74_37 -1 known missense c.530 p.C177Y 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors HCAR2 HGNC ENSG00000182782 137 0 0 73 22 23.1579 SBNO1 0 genome.wustl.edu 37 12 123794266 123794266 + Nonsense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 123794266 123794266 C A SNP SBNO1 ENST00000420886 human ensembl 74_37 -1 known nonsense c.3433 p.G1145* 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 131 0 0 78 21 21.2121 DNAH10 0 genome.wustl.edu 37 12 124265729 124265729 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 124265729 124265729 C T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.541 p.P181S 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 364 0 0 201 62 23.5741 DNAH10 0 genome.wustl.edu 37 12 124395130 124395130 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 124395130 124395130 A G SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.9691 p.S3231G 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 172 0 0 70 19 21.3483 SFSWAP 0 genome.wustl.edu 37 12 132283990 132283990 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 132283990 132283990 C T SNP SFSWAP ENST00000261674 human ensembl 74_37 +1 known missense c.2813 p.A938V 1.000 NULL pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC ENSG00000061936 67 0 0 27 16 37.2093 SFSWAP 0 genome.wustl.edu 37 12 132284090 132284090 + RNA SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 132284090 132284090 G A SNP SFSWAP ENST00000539506 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SFSWAP HGNC ENSG00000061936 25 0 0 20 2 9.09091 EP400 0 genome.wustl.edu 37 12 132537749 132537749 + Nonsense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 132537749 132537749 C T SNP EP400 ENST00000333577 human ensembl 74_37 +1 known nonsense c.7561 p.R2521* 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 199 0 0 131 10 7.0922 POLE 0 genome.wustl.edu 37 12 133210909 133210909 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 133210909 133210909 T C SNP POLE ENST00000320574 human ensembl 74_37 -1 known missense c.5867 p.E1956G 0.998 NULL pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 97 0 0 32 15 31.9149 POLE 0 genome.wustl.edu 37 12 133220111 133220111 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 133220111 133220111 G A SNP POLE ENST00000320574 human ensembl 74_37 -1 known silent c.4326 p.G1442 0.967 NULL pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 346 1 0.288184 198 67 25.283 GOLGA3 0 genome.wustl.edu 37 12 133354354 133354354 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 133354354 133354354 C T SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known missense c.3620 p.R1207H 1.000 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 60 0 0 42 3 6.66667 GOLGA3 0 genome.wustl.edu 37 12 133372766 133372766 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 133372766 133372766 G A SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known missense c.2141 p.A714V 0.003 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 79 0 0 39 8 17.0213 GRIN2B 0 genome.wustl.edu 37 12 13717545 13717545 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 13717545 13717545 G A SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known missense c.2627 p.A876V 0.998 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 193 0 0 112 41 26.7974 GRIN2B 0 genome.wustl.edu 37 12 13906258 13906258 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 13906258 13906258 G T SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known missense c.1003 p.L335I 1.000 superfamily_Peripla_BP_I pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 148 0 0 94 31 24.8 GRIN2B 0 genome.wustl.edu 37 12 14018818 14018818 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 14018818 14018818 C T SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known missense c.325 p.A109T 1.000 superfamily_Peripla_BP_I pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 167 1 0.595238 84 35 29.4118 EPS8 0 genome.wustl.edu 37 12 15819381 15819381 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 15819381 15819381 C T SNP EPS8 ENST00000281172 human ensembl 74_37 -1 known missense c.592 p.A198T 0.971 NULL pfam_PTB,pfam_SH3_domain,pfam_PTB/PI_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8 HGNC ENSG00000151491 86 0 0 51 18 26.087 LMO3 0 genome.wustl.edu 37 12 16753748 16753748 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 16753748 16753748 C T SNP LMO3 ENST00000541295 human ensembl 74_37 -1 known missense c.101 p.C34Y 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMO3 HGNC ENSG00000048540 100 0 0 77 7 8.33333 SLCO1C1 0 genome.wustl.edu 37 12 20890154 20890154 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 20890154 20890154 T C SNP SLCO1C1 ENST00000381552 human ensembl 74_37 +1 known missense c.1496 p.V499A 0.988 pfam_OA_transporter,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC ENSG00000139155 86 0 0 60 17 22.0779 LDHB 0 genome.wustl.edu 37 12 21797028 21797028 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 21797028 21797028 C T SNP LDHB ENST00000350669 human ensembl 74_37 -1 known missense c.262 p.A88T 1.000 pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHB HGNC ENSG00000111716 63 0 0 42 10 19.2308 IQSEC3 0 genome.wustl.edu 37 12 248367 248367 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 248367 248367 C T SNP IQSEC3 ENST00000326261 human ensembl 74_37 +1 known missense c.1838 p.A613V 0.019 NULL pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC3 HGNC ENSG00000120645 12 0 0 8 6 42.8571 CACNA1C 0 genome.wustl.edu 37 12 2566843 2566843 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 2566843 2566843 G A SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.728 p.R243H 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 482 0 0 305 25 7.57576 KLHL42 0 genome.wustl.edu 37 12 27950952 27950952 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 27950952 27950952 C T SNP KLHL42 ENST00000381271 human ensembl 74_37 +1 known silent c.1371 p.D457 0.981 NULL pfam_Kelch_1,pfam_BACK,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL42 HGNC ENSG00000087448 99 0 0 60 26 30.2326 CACNA1C 0 genome.wustl.edu 37 12 2800254 2800254 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 2800254 2800254 C T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known silent c.6519 p.D2173 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 29 0 0 24 5 17.2414 PTHLH 0 genome.wustl.edu 37 12 28116524 28116524 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 28116524 28116524 C T SNP PTHLH ENST00000354417 human ensembl 74_37 -1 known missense c.281 p.R94Q 0.008 pfam_PTH/PTH-rel pfam_PTH/PTH-rel,smart_PTH/PTH-rel - no_errors PTHLH HGNC ENSG00000087494 241 1 0.413223 133 50 27.3224 ERGIC2 0 genome.wustl.edu 37 12 29502999 29502999 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 29502999 29502999 G A SNP ERGIC2 ENST00000360150 human ensembl 74_37 -1 known missense c.575 p.A192V 1.000 pfam_Erv_C pfam_Erv_C - no_errors ERGIC2 HGNC ENSG00000087502 44 0 0 28 7 20 DDX11 0 genome.wustl.edu 37 12 31249860 31249860 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 31249860 31249860 C T SNP DDX11 ENST00000407793 human ensembl 74_37 +1 known silent c.1698 p.I566 0.655 tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC ENSG00000013573 61 0 0 42 8 16 FGD4 0 genome.wustl.edu 37 12 32772677 32772677 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 32772677 32772677 G T SNP FGD4 ENST00000427716 human ensembl 74_37 +1 known missense c.1384 p.G462C 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD4 HGNC ENSG00000139132 140 0 0 74 29 28.1553 PKP2 0 genome.wustl.edu 37 12 32945632 32945632 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 32945632 32945632 G A SNP PKP2 ENST00000070846 human ensembl 74_37 -1 known silent c.2523 p.S841 0.727 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP2 HGNC ENSG00000057294 142 0 0 67 13 16.25 SYT10 0 genome.wustl.edu 37 12 33532872 33532872 + Silent SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 33532872 33532872 T C SNP SYT10 ENST00000228567 human ensembl 74_37 -1 known silent c.1395 p.G465 0.045 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT10 HGNC ENSG00000110975 124 0 0 73 28 27.7228 SLC6A13 0 genome.wustl.edu 37 12 336795 336795 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 336795 336795 C T SNP SLC6A13 ENST00000343164 human ensembl 74_37 -1 known missense c.871 p.A291T 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_GABA_GAT2 - no_errors SLC6A13 HGNC ENSG00000010379 83 0 0 39 12 23.5294 SLC2A13 0 genome.wustl.edu 37 12 40422177 40422177 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 40422177 40422177 C T SNP SLC2A13 ENST00000280871 human ensembl 74_37 -1 known missense c.851 p.G284D 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Plexin-like_fold,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A13 HGNC ENSG00000151229 174 0 0 106 24 18.4615 LRRK2 0 genome.wustl.edu 37 12 40722217 40722217 + Silent SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 40722217 40722217 T C SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known silent c.5712 p.A1904 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 120 0 0 66 24 26.6667 KDM5A 0 genome.wustl.edu 37 12 427487 427487 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 427487 427487 C T SNP KDM5A ENST00000399788 human ensembl 74_37 -1 known silent c.2682 p.L894 0.996 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 179 0 0 100 35 25.9259 KMT2D 0 genome.wustl.edu 37 12 49431843 49431843 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 49431843 49431843 C T SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.9296 p.R3099H 0.931 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 30 0 0 17 5 22.7273 KMT2D 0 genome.wustl.edu 37 12 49432426 49432426 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 49432426 49432426 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.8713 p.R2905C 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 63 0 0 26 9 25.7143 LMBR1L 0 genome.wustl.edu 37 12 49491834 49491834 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 49491834 49491834 T C SNP LMBR1L ENST00000267102 human ensembl 74_37 -1 known missense c.1295 p.N432S 1.000 pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt - no_errors LMBR1L HGNC ENSG00000139636 324 0 0 109 111 50.4545 TROAP 0 genome.wustl.edu 37 12 49724418 49724418 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 49724418 49724418 C A SNP TROAP ENST00000257909 human ensembl 74_37 +1 known missense c.1790 p.P597H 0.346 NULL NULL - no_errors TROAP HGNC ENSG00000135451 134 0 0 85 22 20.5607 DNAJC22 0 genome.wustl.edu 37 12 49742746 49742746 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 49742746 49742746 G A SNP DNAJC22 ENST00000395069 human ensembl 74_37 +1 known missense c.91 p.A31T 1.000 pfam_TM2 pfam_DnaJ_domain,pfam_TM2,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC22 HGNC ENSG00000178401 141 0 0 68 18 20.9302 KCNA5 0 genome.wustl.edu 37 12 5154774 5154774 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 5154774 5154774 G A SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known silent c.1461 p.R487 0.260 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 171 0 0 121 9 6.92308 ACVRL1 0 genome.wustl.edu 37 12 52309876 52309876 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 52309876 52309876 A G SNP ACVRL1 ENST00000550683 human ensembl 74_37 +1 known missense c.1147 p.R383G 0.061 pfam_Prot_kinase_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_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVRL1 HGNC ENSG00000139567 152 0 0 98 8 7.54717 KRT6C 0 genome.wustl.edu 37 12 52864299 52864299 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 52864299 52864299 A G SNP KRT6C ENST00000252250 human ensembl 74_37 -1 known missense c.1193 p.V398A 1.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6C HGNC ENSG00000170465 140 0 0 111 19 14.6154 KRT6A 0 genome.wustl.edu 37 12 52884403 52884403 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 52884403 52884403 C T SNP KRT6A ENST00000330722 human ensembl 74_37 -1 known missense c.1027 p.E343K 1.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6A HGNC ENSG00000205420 305 0 0 175 65 27.0833 KRT3 0 genome.wustl.edu 37 12 53186123 53186123 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 53186123 53186123 C T SNP KRT3 ENST00000309505 human ensembl 74_37 -1 known missense c.1088 p.R363H 0.998 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT3 HGNC ENSG00000186442 61 0 0 40 15 27.2727 ESPL1 0 genome.wustl.edu 37 12 53682349 53682349 + Missense_Mutation SNP A A T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 53682349 53682349 A T SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known missense c.4574 p.E1525V 0.008 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 71 0 0 37 12 24.4898 HOXC12 0 genome.wustl.edu 37 12 54350255 54350255 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 54350255 54350255 A G SNP HOXC12 ENST00000243103 human ensembl 74_37 +1 known missense c.754 p.N252D 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXC12 HGNC ENSG00000123407 262 0 0 133 40 23.1214 ZNF385A 0 genome.wustl.edu 37 12 54765373 54765373 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 54765373 54765373 G A SNP ZNF385A ENST00000338010 human ensembl 74_37 -1 known missense c.548 p.P183L 0.991 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385A HGNC ENSG00000161642 200 0 0 73 69 48.5915 NCKAP1L 0 genome.wustl.edu 37 12 54925968 54925968 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 54925968 54925968 C T SNP NCKAP1L ENST00000293373 human ensembl 74_37 +1 known silent c.2796 p.H932 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd - no_errors NCKAP1L HGNC ENSG00000123338 66 0 0 45 10 18.1818 NCKAP1L 0 genome.wustl.edu 37 12 54936433 54936433 + Silent SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 54936433 54936433 C A SNP NCKAP1L ENST00000293373 human ensembl 74_37 +1 known silent c.3348 p.A1116 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd - no_errors NCKAP1L HGNC ENSG00000123338 162 0 0 101 19 15.8333 OR6C1 0 genome.wustl.edu 37 12 55714399 55714399 + Nonsense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 55714399 55714399 G T SNP OR6C1 ENST00000379668 human ensembl 74_37 +1 known nonsense c.16 p.E6* 0.009 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C1 HGNC ENSG00000205330 91 0 0 62 18 22.5 ERBB3 0 genome.wustl.edu 37 12 56495025 56495025 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 56495025 56495025 G A SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.3382 p.G1128R 0.993 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 73 0 0 44 15 25.4237 ANKRD52 0 genome.wustl.edu 37 12 56647935 56647935 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 56647935 56647935 C T SNP ANKRD52 ENST00000267116 human ensembl 74_37 -1 known silent c.822 p.T274 0.950 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 ANKRD52 HGNC ENSG00000139645 173 0 0 103 30 22.5564 STAT2 0 genome.wustl.edu 37 12 56744072 56744072 + RNA SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 56744072 56744072 G A SNP STAT2 ENST00000557252 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors STAT2 HGNC ENSG00000170581 98 0 0 65 24 26.9663 MIP 0 genome.wustl.edu 37 12 56847486 56847486 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 56847486 56847486 C T SNP MIP ENST00000257979 human ensembl 74_37 -1 known silent c.414 p.T138 0.072 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP - no_errors MIP HGNC ENSG00000135517 57 0 0 30 11 26.8293 GLS2 0 genome.wustl.edu 37 12 56868661 56868661 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 56868661 56868661 T C SNP GLS2 ENST00000311966 human ensembl 74_37 -1 known missense c.1016 p.D339G 1.000 pfam_Glutaminase,superfamily_Beta-lactam/transpept-like,tigrfam_Glutaminase pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS2 HGNC ENSG00000135423 135 0 0 61 23 27.381 B4GALNT1 0 genome.wustl.edu 37 12 58021960 58021960 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 58021960 58021960 G A SNP B4GALNT1 ENST00000341156 human ensembl 74_37 -1 known missense c.1088 p.A363V 0.103 pfam_Glyco_trans_2,pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT1 HGNC ENSG00000135454 132 0 0 78 20 20.4082 TAPBPL 0 genome.wustl.edu 37 12 6561438 6561438 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 6561438 6561438 C T SNP TAPBPL ENST00000266556 human ensembl 74_37 +1 known silent c.24 p.C8 0.087 NULL pfam_Ig_C1-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors TAPBPL HGNC ENSG00000139192 10 0 0 5 3 37.5 HELB 0 genome.wustl.edu 37 12 66696387 66696387 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 66696387 66696387 G A SNP HELB ENST00000247815 human ensembl 74_37 +1 known missense c.4 p.A2T 0.299 NULL superfamily_P-loop_NTPase - no_errors HELB HGNC ENSG00000127311 115 0 0 49 26 34.6667 NUP107 0 genome.wustl.edu 37 12 69126525 69126525 + RNA SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 69126525 69126525 G A SNP NUP107 ENST00000401003 human ensembl 74_37 +1 known rna NULL NULL 0.014 - - - no_errors NUP107 HGNC ENSG00000111581 54 0 0 30 7 18.9189 MDM2 0 genome.wustl.edu 37 12 69222698 69222698 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 69222698 69222698 C T SNP MDM2 ENST00000462284 human ensembl 74_37 +1 known missense c.671 p.T224M 0.011 superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4 pfam_SWIB_MDM2_domain,pfam_Znf_RanBP2,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING - no_errors MDM2 HGNC ENSG00000135679 210 0 0 130 37 22.1557 USP5 0 genome.wustl.edu 37 12 6975193 6975193 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 6975193 6975193 G A SNP USP5 ENST00000229268 human ensembl 74_37 +1 known silent c.2529 p.P843 0.011 pfam_Peptidase_C19/C67,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP5 HGNC ENSG00000111667 112 0 0 56 14 20 CLSTN3 0 genome.wustl.edu 37 12 7310099 7310099 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 7310099 7310099 G A SNP CLSTN3 ENST00000266546 human ensembl 74_37 +1 known missense c.2542 p.A848T 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC ENSG00000139182 47 0 0 35 8 18.6047 KCNC2 0 genome.wustl.edu 37 12 75444468 75444468 + Silent SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 75444468 75444468 A C SNP KCNC2 ENST00000549446 human ensembl 74_37 -1 known silent c.1317 p.G439 0.005 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC2 HGNC ENSG00000166006 57 0 0 41 14 25.4545 FOXJ2 0 genome.wustl.edu 37 12 8205482 8205482 + RNA SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 8205482 8205482 G A SNP FOXJ2 ENST00000539192 human ensembl 74_37 +1 known rna NULL NULL 0.502 - - - no_errors FOXJ2 HGNC ENSG00000065970 21 0 0 10 5 33.3333 C3AR1 0 genome.wustl.edu 37 12 8211428 8211428 + Nonsense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 8211428 8211428 C A SNP C3AR1 ENST00000307637 human ensembl 74_37 -1 known nonsense c.1354 p.G452* 0.999 prints_Anaphtx_C3AR1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C3AR1,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Formyl_pep_rcpt,prints_Anaphtx_C5AR1/C5AR2 - no_errors C3AR1 HGNC ENSG00000171860 163 0 0 101 24 19.2 C3AR1 0 genome.wustl.edu 37 12 8211804 8211804 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 8211804 8211804 G A SNP C3AR1 ENST00000307637 human ensembl 74_37 -1 known silent c.978 p.D326 0.000 pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C3AR1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C3AR1,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Formyl_pep_rcpt,prints_Anaphtx_C5AR1/C5AR2 - no_errors C3AR1 HGNC ENSG00000171860 171 0 0 86 31 26.4957 FAM90A1 0 genome.wustl.edu 37 12 8375292 8375292 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 8375292 8375292 G T SNP FAM90A1 ENST00000307435 human ensembl 74_37 -1 known missense c.521 p.S174Y 0.005 NULL NULL - no_errors FAM90A1 HGNC ENSG00000171847 99 0 0 62 18 22.5 LRRIQ1 0 genome.wustl.edu 37 12 85531634 85531634 + Missense_Mutation SNP T T A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 85531634 85531634 T A SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known missense c.4216 p.W1406R 1.000 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 146 0 0 70 23 24.7312 LRRIQ1 0 genome.wustl.edu 37 12 85554491 85554491 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 85554491 85554491 A C SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known missense c.4821 p.E1607D 1.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 103 0 0 75 22 22.6804 MKRN9P 0 genome.wustl.edu 37 12 88176994 88176994 + RNA SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 88176994 88176994 C A SNP MKRN9P ENST00000599191 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MKRN9P HGNC ENSG00000258128 42 0 0 27 10 27.027 C12orf50 0 genome.wustl.edu 37 12 88379656 88379656 + Missense_Mutation SNP T T A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 88379656 88379656 T A SNP C12orf50 ENST00000298699 human ensembl 74_37 -1 known missense c.1097 p.N366I 0.964 NULL NULL - no_errors C12orf50 HGNC ENSG00000165805 188 0 0 101 34 25.1852 TMTC3 0 genome.wustl.edu 37 12 88554465 88554465 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 88554465 88554465 C T SNP TMTC3 ENST00000266712 human ensembl 74_37 +1 known missense c.634 p.P212S 1.000 NULL pfam_TPR_2,pfam_TPR_1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC3 HGNC ENSG00000139324 89 0 0 56 6 9.67742 ATP2B1 0 genome.wustl.edu 37 12 89998030 89998030 + Nonsense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 89998030 89998030 G A SNP ATP2B1 ENST00000261173 human ensembl 74_37 -1 known nonsense c.2536 p.R846* 1.000 tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B1 HGNC ENSG00000070961 88 0 0 36 22 37.931 A2ML1 0 genome.wustl.edu 37 12 9004899 9004899 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 9004899 9004899 A C SNP A2ML1 ENST00000299698 human ensembl 74_37 +1 known missense c.2557 p.T853P 1.000 pfam_SV_autoAg pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors A2ML1 HGNC ENSG00000166535 257 1 0.387597 152 45 22.8426 EPYC 0 genome.wustl.edu 37 12 91358060 91358060 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 91358060 91358060 A G SNP EPYC ENST00000261172 human ensembl 74_37 -1 known missense c.842 p.V281A 1.000 NULL pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors EPYC HGNC ENSG00000083782 88 0 0 50 18 26.4706 TMPO 0 genome.wustl.edu 37 12 98926822 98926822 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 98926822 98926822 G T SNP TMPO ENST00000266732 human ensembl 74_37 +1 known missense c.787 p.G263C 0.990 NULL pfam_LAP2alpha,pfam_LEM-like_dom,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom,pfscan_LEM-like_dom - no_errors TMPO HGNC ENSG00000120802 157 0 0 65 23 26.1364 TMTC4 0 genome.wustl.edu 37 13 101277794 101277794 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 101277794 101277794 G A SNP TMTC4 ENST00000342624 human ensembl 74_37 -1 known missense c.1831 p.R611C 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC4 HGNC ENSG00000125247 142 0 0 86 8 8.51064 ITGBL1 0 genome.wustl.edu 37 13 102106322 102106322 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 102106322 102106322 T C SNP ITGBL1 ENST00000376180 human ensembl 74_37 +1 known missense c.187 p.C63R 1.000 pfam_EGF_extracell pfam_EGF_extracell,smart_EG-like_dom - no_errors ITGBL1 HGNC ENSG00000198542 9 0 0 4 3 42.8571 ITGBL1 0 genome.wustl.edu 37 13 102227785 102227785 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 102227785 102227785 C A SNP ITGBL1 ENST00000376180 human ensembl 74_37 +1 known missense c.474 p.H158Q 1.000 pfam_EGF_extracell,smart_EG-like_dom pfam_EGF_extracell,smart_EG-like_dom - no_errors ITGBL1 HGNC ENSG00000198542 289 0 0 160 51 24.1706 FGF14 0 genome.wustl.edu 37 13 102568842 102568842 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 102568842 102568842 G A SNP FGF14 ENST00000376143 human ensembl 74_37 -1 known missense c.154 p.R52C 1.000 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF14 HGNC ENSG00000102466 92 0 0 63 21 25 KDELC1 0 genome.wustl.edu 37 13 103443739 103443739 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 103443739 103443739 G A SNP KDELC1 ENST00000376004 human ensembl 74_37 -1 known silent c.714 p.D238 1.000 pfam_LipoPS_modifying,smart_LipoPS_modifying pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like - no_errors KDELC1 HGNC ENSG00000134901 278 0 0 188 15 7.38916 MYO16 0 genome.wustl.edu 37 13 109779804 109779804 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 109779804 109779804 G A SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known silent c.3891 p.P1297 0.942 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 42 0 0 23 7 23.3333 MCF2L 0 genome.wustl.edu 37 13 113731454 113731454 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 113731454 113731454 G T SNP MCF2L ENST00000375604 human ensembl 74_37 +1 known missense c.1760 p.R587M 1.000 NULL pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC ENSG00000126217 39 0 0 25 9 26.4706 F10 0 genome.wustl.edu 37 13 113783775 113783775 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 113783775 113783775 G A SNP F10 ENST00000375559 human ensembl 74_37 +1 known missense c.80 p.R27H 0.000 pirsf_Pept_S1A_FX,smart_GLA_domain pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors F10 HGNC ENSG00000126218 103 1 0.961538 67 21 23.8636 RASA3 0 genome.wustl.edu 37 13 114781736 114781736 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 114781736 114781736 G A SNP RASA3 ENST00000334062 human ensembl 74_37 -1 known silent c.1218 p.S406 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA3 HGNC ENSG00000185989 85 0 0 46 14 23.3333 TPTE2 0 genome.wustl.edu 37 13 20048099 20048099 + Missense_Mutation SNP C C G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 20048099 20048099 C G SNP TPTE2 ENST00000382977 human ensembl 74_37 -1 known missense c.347 p.G116A 0.070 pfam_Ion_trans_dom pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 94 0 0 64 4 5.88235 TPTE2 0 genome.wustl.edu 37 13 20048104 20048104 + Silent SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 20048104 20048104 A G SNP TPTE2 ENST00000382977 human ensembl 74_37 -1 known silent c.342 p.A114 0.388 NULL pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 96 0 0 69 4 5.47945 GJB2 0 genome.wustl.edu 37 13 20763535 20763535 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 20763535 20763535 G A SNP GJB2 ENST00000382844 human ensembl 74_37 -1 known silent c.186 p.N62 0.927 pfam_Connexin_N,smart_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin26 - no_errors GJB2 HGNC ENSG00000165474 111 0 0 73 24 24.7423 SACS 0 genome.wustl.edu 37 13 23942607 23942607 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 23942607 23942607 C T SNP SACS ENST00000382292 human ensembl 74_37 -1 known silent c.279 p.T93 0.773 superfamily_HATPase_ATP-bd pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 29 0 0 19 4 17.3913 WASF3 0 genome.wustl.edu 37 13 27250695 27250695 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 27250695 27250695 C T SNP WASF3 ENST00000335327 human ensembl 74_37 +1 known missense c.550 p.R184C 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC ENSG00000132970 106 0 0 38 16 29.6296 FLT1 0 genome.wustl.edu 37 13 28880898 28880898 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 28880898 28880898 G A SNP FLT1 ENST00000282397 human ensembl 74_37 -1 known silent c.3732 p.G1244 0.002 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt - no_errors FLT1 HGNC ENSG00000102755 115 0 0 40 18 31.0345 BRCA2 0 genome.wustl.edu 37 13 32930746 32930746 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 32930746 32930746 G T SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.7617 p.Q2539H 1.000 pfam_DNA_recomb/repair_BRCA2_hlx,superfamily_DNA_recomb/repair_BRCA2_hlx,pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 85 0 0 50 20 28.5714 KL 0 genome.wustl.edu 37 13 33591332 33591332 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 33591332 33591332 C T SNP KL ENST00000380099 human ensembl 74_37 +1 known missense c.754 p.R252C 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KL HGNC ENSG00000133116 34 0 0 23 4 14.8148 RFC3 0 genome.wustl.edu 37 13 34404130 34404130 + Silent SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 34404130 34404130 T G SNP RFC3 ENST00000380071 human ensembl 74_37 +1 known silent c.549 p.R183 0.880 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC3 HGNC ENSG00000133119 118 0 0 77 20 20.6186 POSTN 0 genome.wustl.edu 37 13 38153466 38153466 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 38153466 38153466 A C SNP POSTN ENST00000379747 human ensembl 74_37 -1 known missense c.1691 p.L564R 1.000 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 93 0 0 56 22 28.2051 POSTN 0 genome.wustl.edu 37 13 38160332 38160332 + Missense_Mutation SNP T T A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 38160332 38160332 T A SNP POSTN ENST00000379747 human ensembl 74_37 -1 known missense c.839 p.E280V 1.000 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 116 0 0 69 27 28.125 TRPC4 0 genome.wustl.edu 37 13 38211353 38211353 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 38211353 38211353 T C SNP TRPC4 ENST00000379681 human ensembl 74_37 -1 known missense c.2636 p.Q879R 1.000 NULL pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC ENSG00000133107 80 0 0 42 24 36.3636 FREM2 0 genome.wustl.edu 37 13 39263279 39263279 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 39263279 39263279 C A SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.1798 p.L600M 0.932 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 121 0 0 60 20 25 FREM2 0 genome.wustl.edu 37 13 39425965 39425965 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 39425965 39425965 C T SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known silent c.6885 p.G2295 0.982 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 93 0 0 64 8 11.1111 FOXO1 0 genome.wustl.edu 37 13 41134405 41134405 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 41134405 41134405 G A SNP FOXO1 ENST00000379561 human ensembl 74_37 -1 known missense c.1223 p.A408V 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO1 HGNC ENSG00000150907 171 0 0 100 30 23.0769 AKAP11 0 genome.wustl.edu 37 13 42873547 42873547 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 42873547 42873547 C T SNP AKAP11 ENST00000025301 human ensembl 74_37 +1 known missense c.665 p.T222M 1.000 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 70 0 0 47 17 26.5625 AKAP11 0 genome.wustl.edu 37 13 42882736 42882736 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 42882736 42882736 T C SNP AKAP11 ENST00000025301 human ensembl 74_37 +1 known missense c.5264 p.L1755P 1.000 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 84 0 0 50 17 25.3731 ENSG00000273149 0 genome.wustl.edu 37 13 45915208 45915208 + RNA SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 45915208 45915208 G A SNP ENSG00000273149 ENST00000610057 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-290D2.6 Clone_based_vega_gene ENSG00000273149 44 0 0 23 4 14.8148 ZC3H13 0 genome.wustl.edu 37 13 46549790 46549790 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 46549790 46549790 C T SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known missense c.2096 p.R699Q 0.993 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 15 0 0 7 5 41.6667 ARL11 0 genome.wustl.edu 37 13 50204971 50204971 + Missense_Mutation SNP C C G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 50204971 50204971 C G SNP ARL11 ENST00000282026 human ensembl 74_37 +1 known missense c.388 p.L130V 0.023 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom - no_errors ARL11 HGNC ENSG00000152213 152 0 0 17 49 74.2424 PCDH8 0 genome.wustl.edu 37 13 53420187 53420187 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 53420187 53420187 C T SNP PCDH8 ENST00000377942 human ensembl 74_37 -1 known silent c.2385 p.A795 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH8 HGNC ENSG00000136099 33 0 0 5 27 84.375 PCDH8 0 genome.wustl.edu 37 13 53420267 53420267 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 53420267 53420267 C T SNP PCDH8 ENST00000377942 human ensembl 74_37 -1 known missense c.2305 p.A769T 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH8 HGNC ENSG00000136099 104 0 0 73 15 17.0455 PCDH9 0 genome.wustl.edu 37 13 67801805 67801805 + Silent SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 67801805 67801805 T C SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known silent c.768 p.Q256 0.998 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 104 0 0 74 18 19.5652 DACH1 0 genome.wustl.edu 37 13 72255949 72255949 + Silent SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 72255949 72255949 A G SNP DACH1 ENST00000359684 human ensembl 74_37 -1 known silent c.948 p.S316 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH1 HGNC ENSG00000165659 95 0 0 58 17 22.6667 MYCBP2 0 genome.wustl.edu 37 13 77724964 77724964 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 77724964 77724964 T C SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.7036 p.M2346V 0.996 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,pfscan_Filamin/ABP280_repeat-like pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 156 0 0 114 7 5.78512 SCEL-AS1 0 genome.wustl.edu 37 13 78173890 78173890 + RNA SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 78173890 78173890 T G SNP SCEL-AS1 ENST00000457528 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors SCEL-AS1 HGNC ENSG00000224347 54 0 0 26 11 29.7297 SLAIN1 0 genome.wustl.edu 37 13 78337291 78337291 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 78337291 78337291 C A SNP SLAIN1 ENST00000466548 human ensembl 74_37 +1 known missense c.1643 p.P548H 1.000 NULL NULL - no_errors SLAIN1 HGNC ENSG00000139737 99 0 0 45 13 22.4138 POU4F1 0 genome.wustl.edu 37 13 79175910 79175910 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 79175910 79175910 G A SNP POU4F1 ENST00000377208 human ensembl 74_37 -1 known silent c.900 p.G300 0.999 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F1 HGNC ENSG00000152192 46 0 0 21 10 32.2581 MBNL2 0 genome.wustl.edu 37 13 97995269 97995269 + Splice_Site SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 97995269 97995269 G A SNP MBNL2 ENST00000376673 human ensembl 74_37 +1 known splice_site c.340-1 e3-1 1.000 - - - no_errors MBNL2 HGNC ENSG00000139793 71 0 0 40 12 23.0769 RNF113B 0 genome.wustl.edu 37 13 98829459 98829459 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 98829459 98829459 G A SNP RNF113B ENST00000267291 human ensembl 74_37 -1 known missense c.32 p.A11V 0.006 NULL pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF113B HGNC ENSG00000139797 48 0 0 36 9 20 FARP1 0 genome.wustl.edu 37 13 99061770 99061770 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 99061770 99061770 C T SNP FARP1 ENST00000376586 human ensembl 74_37 +1 known silent c.1593 p.G531 1.000 superfamily_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP1 HGNC ENSG00000152767 29 0 0 15 8 34.7826 SLC15A1 0 genome.wustl.edu 37 13 99337102 99337102 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 99337102 99337102 C T SNP SLC15A1 ENST00000376503 human ensembl 74_37 -1 known missense c.2003 p.R668Q 0.001 superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A1 HGNC ENSG00000088386 55 0 0 21 7 25 EXOC3L4 0 genome.wustl.edu 37 14 103573803 103573803 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 103573803 103573803 G A SNP EXOC3L4 ENST00000380069 human ensembl 74_37 +1 known missense c.1624 p.D542N 0.162 pfam_Sec6 pfam_Sec6 - no_errors EXOC3L4 HGNC ENSG00000205436 94 0 0 40 15 27.2727 AHNAK2 0 genome.wustl.edu 37 14 105414444 105414444 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 105414444 105414444 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.7344 p.S2448 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 352 1 0.283286 146 64 30.4762 AHNAK2 0 genome.wustl.edu 37 14 105419396 105419396 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 105419396 105419396 T C SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.2392 p.S798G 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 412 1 0.242131 208 56 21.2121 OR4Q3 0 genome.wustl.edu 37 14 20215646 20215646 + Silent SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 20215646 20215646 T C SNP OR4Q3 ENST00000331723 human ensembl 74_37 +1 known silent c.60 p.S20 0.035 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4Q3 HGNC ENSG00000182652 227 0 0 106 26 19.697 OR4N2 0 genome.wustl.edu 37 14 20295916 20295916 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 20295916 20295916 C T SNP OR4N2 ENST00000315947 human ensembl 74_37 +1 known silent c.309 p.F103 0.368 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 OR4N2 HGNC ENSG00000176294 366 0 0 163 47 22.381 RNASE11 0 genome.wustl.edu 37 14 21052507 21052507 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 21052507 21052507 C A SNP RNASE11 ENST00000398008 human ensembl 74_37 -1 known missense c.127 p.G43C 0.000 NULL pfam_RNaseA_domain,superfamily_RNaseA_domain - no_errors RNASE11 HGNC ENSG00000173464 244 0 0 117 12 9.30233 BCL2L2 0 genome.wustl.edu 37 14 23778068 23778068 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 23778068 23778068 C T SNP BCL2L2 ENST00000250405 human ensembl 74_37 +1 known missense c.476 p.A159V 0.999 NULL pfam_Blc2_fam,pfam_Bcl2_BH4,smart_Bcl2_BH4,pfscan_Bcl2-like,pfscan_Bcl2_BH4,prints_Apop_reg_BclW,prints_Blc2_fam - no_errors BCL2L2 HGNC ENSG00000129473 149 0 0 101 36 26.2774 MYH6 0 genome.wustl.edu 37 14 23857097 23857097 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 23857097 23857097 C T SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known silent c.4395 p.S1465 0.011 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 122 0 0 68 15 18.0723 AP1G2 0 genome.wustl.edu 37 14 24031515 24031515 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 24031515 24031515 C T SNP AP1G2 ENST00000308724 human ensembl 74_37 -1 known missense c.1610 p.R537H 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app - no_errors AP1G2 HGNC ENSG00000213983 158 0 0 88 25 22.1239 JPH4 0 genome.wustl.edu 37 14 24045186 24045186 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 24045186 24045186 G A SNP JPH4 ENST00000356300 human ensembl 74_37 -1 known missense c.859 p.R287C 1.000 pfam_MORN,smart_MORN,pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH4 HGNC ENSG00000092051 26 0 0 19 5 20.8333 LRRC16B 0 genome.wustl.edu 37 14 24531964 24531964 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 24531964 24531964 G A SNP LRRC16B ENST00000342740 human ensembl 74_37 +1 known missense c.2615 p.C872Y 0.608 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 111 0 0 65 20 23.5294 TGM1 0 genome.wustl.edu 37 14 24718698 24718698 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 24718698 24718698 C T SNP TGM1 ENST00000206765 human ensembl 74_37 -1 known missense c.2275 p.V759M 0.047 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM1 HGNC ENSG00000092295 80 0 0 58 5 7.93651 ADCY4 0 genome.wustl.edu 37 14 24798413 24798413 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 24798413 24798413 C T SNP ADCY4 ENST00000310677 human ensembl 74_37 -1 known missense c.1378 p.A460T 0.701 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY4 HGNC ENSG00000129467 55 0 0 31 7 18.4211 NOVA1 0 genome.wustl.edu 37 14 26941569 26941569 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 26941569 26941569 T G SNP NOVA1 ENST00000539517 human ensembl 74_37 -1 known missense c.476 p.K159T 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC ENSG00000139910 52 0 0 31 7 18.4211 PRKD1 0 genome.wustl.edu 37 14 30095688 30095688 + Splice_Site SNP A A T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 30095688 30095688 A T SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known splice_site c.1798+2 e12+2 1.000 - - - no_errors PRKD1 HGNC ENSG00000184304 63 0 0 43 9 17.3077 BAZ1A 0 genome.wustl.edu 37 14 35234330 35234330 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 35234330 35234330 G A SNP BAZ1A ENST00000360310 human ensembl 74_37 -1 known missense c.3446 p.A1149V 1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_PHD-finger pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1A HGNC ENSG00000198604 87 0 0 75 12 13.7931 RALGAPA1 0 genome.wustl.edu 37 14 36190894 36190894 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 36190894 36190894 C T SNP RALGAPA1 ENST00000258840 human ensembl 74_37 -1 known missense c.2266 p.A756T 1.000 NULL pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA1 HGNC ENSG00000174373 141 0 0 104 15 12.605 PYGL 0 genome.wustl.edu 37 14 51376807 51376807 + Silent SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 51376807 51376807 T C SNP PYGL ENST00000216392 human ensembl 74_37 -1 known silent c.1983 p.T661 0.561 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGL HGNC ENSG00000100504 156 0 0 96 16 14.2857 TBPL2 0 genome.wustl.edu 37 14 55895632 55895632 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 55895632 55895632 G A SNP TBPL2 ENST00000247219 human ensembl 74_37 -1 known silent c.849 p.F283 1.000 NULL pfam_TBP,prints_TBP - no_errors TBPL2 HGNC ENSG00000182521 175 0 0 81 37 31.3559 AP5M1 0 genome.wustl.edu 37 14 57741365 57741365 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 57741365 57741365 C T SNP AP5M1 ENST00000261558 human ensembl 74_37 +1 known missense c.478 p.P160S 0.994 NULL pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C - no_errors AP5M1 HGNC ENSG00000053770 92 0 0 41 24 36.9231 ARID4A 0 genome.wustl.edu 37 14 58790255 58790255 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 58790255 58790255 C T SNP ARID4A ENST00000355431 human ensembl 74_37 +1 known missense c.502 p.R168C 0.998 pfam_RBB1NT pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ENSG00000032219 110 0 0 60 9 13.0435 SIX1 0 genome.wustl.edu 37 14 61115595 61115595 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 61115595 61115595 C T SNP SIX1 ENST00000247182 human ensembl 74_37 -1 known missense c.313 p.A105T 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX1 HGNC ENSG00000126778 178 0 0 68 40 37.037 SYT16 0 genome.wustl.edu 37 14 62541932 62541932 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 62541932 62541932 G T SNP SYT16 ENST00000446982 human ensembl 74_37 +1 known missense c.816 p.Q272H 0.003 NULL NULL - no_errors SYT16 HGNC ENSG00000139973 31 0 0 21 6 22.2222 GPHB5 0 genome.wustl.edu 37 14 63784472 63784472 + RNA SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 63784472 63784472 C T SNP GPHB5 ENST00000314140 human ensembl 74_37 -1 known rna NULL NULL 0.046 - - - no_errors GPHB5 HGNC ENSG00000179600 81 0 0 37 13 26 PLEKHG3 0 genome.wustl.edu 37 14 65209760 65209760 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 65209760 65209760 G T SNP PLEKHG3 ENST00000394691 human ensembl 74_37 +1 known missense c.2999 p.S1000I 0.515 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC ENSG00000126822 244 0 0 93 32 25.6 ADAM21P1 0 genome.wustl.edu 37 14 70714173 70714173 + RNA SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 70714173 70714173 C A SNP ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.128 - - - no_errors ADAM21P1 HGNC ENSG00000235812 113 0 0 50 35 41.1765 ADAM20 0 genome.wustl.edu 37 14 70989840 70989840 + Silent SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 70989840 70989840 A G SNP ADAM20 ENST00000256389 human ensembl 74_37 -1 known silent c.1785 p.G595 0.011 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM20 HGNC ENSG00000134007 119 0 0 48 24 33.3333 HEATR4 0 genome.wustl.edu 37 14 73976119 73976119 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 73976119 73976119 A C SNP HEATR4 ENST00000334988 human ensembl 74_37 -1 known missense c.1617 p.C539W 0.291 pfam_HEAT,superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC ENSG00000187105 113 0 0 71 7 8.97436 ISCA2 0 genome.wustl.edu 37 14 74961032 74961032 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 74961032 74961032 G A SNP ISCA2 ENST00000556816 human ensembl 74_37 +1 known missense c.229 p.G77S 1.000 pfam_FeS_biogenesis,superfamily_FeS_biogenesis,tigrfam_FeS_cluster_insertion pfam_FeS_biogenesis,superfamily_FeS_biogenesis,tigrfam_FeS_cluster_insertion - no_errors ISCA2 HGNC ENSG00000165898 109 0 0 60 13 17.8082 BATF 0 genome.wustl.edu 37 14 76012964 76012964 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 76012964 76012964 G A SNP BATF ENST00000286639 human ensembl 74_37 +1 known missense c.328 p.A110T 0.017 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors BATF HGNC ENSG00000156127 27 0 0 16 4 20 TTLL5 0 genome.wustl.edu 37 14 76243106 76243106 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 76243106 76243106 C A SNP TTLL5 ENST00000298832 human ensembl 74_37 +1 known missense c.2300 p.A767D 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL5 HGNC ENSG00000119685 78 0 0 38 23 37.7049 VASH1 0 genome.wustl.edu 37 14 77245316 77245316 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 77245316 77245316 G T SNP VASH1 ENST00000167106 human ensembl 74_37 +1 known missense c.1053 p.E351D 1.000 NULL NULL - no_errors VASH1 HGNC ENSG00000071246 296 0 0 145 45 23.6842 C14orf166B 0 genome.wustl.edu 37 14 77302606 77302606 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 77302606 77302606 C T SNP C14orf166B ENST00000393774 human ensembl 74_37 +1 known silent c.447 p.G149 0.001 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors C14orf166B HGNC ENSG00000100565 53 0 0 14 6 30 TSHR 0 genome.wustl.edu 37 14 81609866 81609866 + Nonsense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 81609866 81609866 G A SNP TSHR ENST00000298171 human ensembl 74_37 +1 known nonsense c.1464 p.W488* 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt_fam pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_TSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt - no_errors TSHR HGNC ENSG00000165409 96 0 0 50 11 18.0328 FLRT2 0 genome.wustl.edu 37 14 86088364 86088364 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 86088364 86088364 A C SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.506 p.N169T 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 68 0 0 26 18 40.9091 KCNK13 0 genome.wustl.edu 37 14 90528736 90528736 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 90528736 90528736 G A SNP KCNK13 ENST00000282146 human ensembl 74_37 +1 known missense c.187 p.G63S 0.004 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK13 HGNC ENSG00000152315 12 0 0 6 3 33.3333 RIN3 0 genome.wustl.edu 37 14 93022170 93022170 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 93022170 93022170 C T SNP RIN3 ENST00000216487 human ensembl 74_37 +1 known missense c.119 p.P40L 0.000 NULL pfam_VPS9,smart_SH2,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN3 HGNC ENSG00000100599 104 0 0 27 38 58.4615 BTBD7 0 genome.wustl.edu 37 14 93760654 93760654 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 93760654 93760654 G A SNP BTBD7 ENST00000334746 human ensembl 74_37 -1 known missense c.712 p.R238C 1.000 smart_BTB/POZ-like pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 93 0 0 51 23 31.0811 DDX24 0 genome.wustl.edu 37 14 94526684 94526684 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 94526684 94526684 G A SNP DDX24 ENST00000330836 human ensembl 74_37 -1 known missense c.1673 p.A558V 1.000 superfamily_P-loop_NTPase pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX24 HGNC ENSG00000089737 150 0 0 75 22 22.6804 ATG2B 0 genome.wustl.edu 37 14 96813521 96813521 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 96813521 96813521 C T SNP ATG2B ENST00000359933 human ensembl 74_37 -1 known missense c.320 p.R107H 0.988 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 56 0 0 28 4 12.5 SETD3 0 genome.wustl.edu 37 14 99865440 99865440 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 99865440 99865440 T G SNP SETD3 ENST00000331768 human ensembl 74_37 -1 known missense c.1361 p.N454T 0.002 pfam_Rubisco_LSMT_subst-bd,superfamily_Rubisco_LSMT_subst-bd pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,superfamily_Rubisco_LSMT_subst-bd - no_errors SETD3 HGNC ENSG00000183576 107 0 0 48 14 22.5806 DNM1P46 0 genome.wustl.edu 37 15 100331220 100331220 + RNA SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 100331220 100331220 G A SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 0.028 - - - no_errors DNM1P46 HGNC ENSG00000182397 177 0 0 122 89 42.1801 DNM1P47 0 genome.wustl.edu 37 15 102312372 102312372 + RNA SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 102312372 102312372 C A SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors DNM1P47 HGNC ENSG00000259660 33 0 0 27 9 25 OR4F15 0 genome.wustl.edu 37 15 102359245 102359245 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 102359245 102359245 A G SNP OR4F15 ENST00000332238 human ensembl 74_37 +1 known missense c.856 p.I286V 0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4F15 HGNC ENSG00000182854 66 0 0 51 18 26.087 CYFIP1 0 genome.wustl.edu 37 15 22929769 22929769 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 22929769 22929769 G T SNP CYFIP1 ENST00000313077 human ensembl 74_37 +1 known missense c.443 p.R148M 1.000 pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 123 0 0 43 17 28.3333 CYFIP1 0 genome.wustl.edu 37 15 23002965 23002965 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 23002965 23002965 C T SNP CYFIP1 ENST00000313077 human ensembl 74_37 +1 known silent c.3687 p.G1229 0.000 pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 105 0 0 33 16 32.6531 SNHG14 0 genome.wustl.edu 37 15 25467338 25467338 + RNA SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 25467338 25467338 C A SNP SNHG14 ENST00000424208 human ensembl 74_37 +1 known rna NULL NULL 0.232 - - - no_errors SNHG14 HGNC ENSG00000224078 19 0 0 8 3 27.2727 GABRB3 0 genome.wustl.edu 37 15 26793230 26793230 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 26793230 26793230 T C SNP GABRB3 ENST00000299267 human ensembl 74_37 -1 known missense c.1132 p.M378V 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC ENSG00000166206 229 0 0 103 10 8.84956 GABRB3 0 genome.wustl.edu 37 15 26825568 26825568 + Nonsense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 26825568 26825568 G A SNP GABRB3 ENST00000299267 human ensembl 74_37 -1 known nonsense c.580 p.R194* 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC ENSG00000166206 136 0 0 54 6 10 OCA2 0 genome.wustl.edu 37 15 28196964 28196964 + Silent SNP G G C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 28196964 28196964 G C SNP OCA2 ENST00000354638 human ensembl 74_37 -1 known silent c.1917 p.L639 1.000 pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 65 0 0 18 12 40 CHRNA7 0 genome.wustl.edu 37 15 32322927 32322927 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 32322927 32322927 G A SNP CHRNA7 ENST00000454250 human ensembl 74_37 +1 known missense c.130 p.A44T 0.633 NULL pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA7 HGNC ENSG00000175344 8 0 0 2 6 75 RYR3 0 genome.wustl.edu 37 15 34049795 34049795 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 34049795 34049795 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.8703 p.A2901 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 28 0 0 7 6 46.1538 NUTM1 0 genome.wustl.edu 37 15 34638200 34638200 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 34638200 34638200 T G SNP NUTM1 ENST00000537011 human ensembl 74_37 +1 putative missense c.64 p.L22V 0.204 NULL NULL - no_errors NUTM1 HGNC ENSG00000184507 141 0 0 39 28 41.791 SPRED1 0 genome.wustl.edu 37 15 38591731 38591731 + Nonsense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 38591731 38591731 C T SNP SPRED1 ENST00000299084 human ensembl 74_37 +1 known nonsense c.190 p.R64* 1.000 pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED1 HGNC ENSG00000166068 86 0 0 29 20 40.8163 THBS1 0 genome.wustl.edu 37 15 39886303 39886303 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 39886303 39886303 C T SNP THBS1 ENST00000260356 human ensembl 74_37 +1 known missense c.3271 p.R1091C 0.999 pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS1 HGNC ENSG00000137801 52 0 0 11 4 26.6667 PAK6 0 genome.wustl.edu 37 15 40558161 40558161 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 40558161 40558161 G A SNP PAK6 ENST00000260404 human ensembl 74_37 +1 known missense c.323 p.R108Q 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK6 HGNC ENSG00000137843 21 0 0 13 10 43.4783 ZNF106 0 genome.wustl.edu 37 15 42731306 42731306 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 42731306 42731306 G A SNP ZNF106 ENST00000263805 human ensembl 74_37 -1 known missense c.4400 p.T1467M 0.980 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZNF106 HGNC ENSG00000103994 172 0 0 60 40 40 SNAP23 0 genome.wustl.edu 37 15 42805562 42805562 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 42805562 42805562 T C SNP SNAP23 ENST00000563765 human ensembl 74_37 +1 known missense c.128 p.F43S 0.095 NULL NULL - no_errors SNAP23 HGNC ENSG00000092531 73 0 0 17 8 32 EPB42 0 genome.wustl.edu 37 15 43508551 43508551 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 43508551 43508551 C T SNP EPB42 ENST00000300215 human ensembl 74_37 -1 known silent c.201 p.Q67 0.999 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors EPB42 HGNC ENSG00000166947 117 0 0 44 23 34.3284 DUOX1 0 genome.wustl.edu 37 15 45453118 45453118 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 45453118 45453118 C T SNP DUOX1 ENST00000321429 human ensembl 74_37 +1 known silent c.3786 p.G1262 1.000 NULL pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 129 0 0 79 26 24.7619 FBN1 0 genome.wustl.edu 37 15 48812973 48812973 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 48812973 48812973 G A SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.1030 p.R344C 1.000 pfam_TB_dom,superfamily_TB_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 67 0 0 31 12 27.907 COPS2 0 genome.wustl.edu 37 15 49422919 49422919 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 49422919 49422919 C T SNP COPS2 ENST00000299259 human ensembl 74_37 -1 known missense c.1063 p.E355K 1.000 pfam_PCI_dom,smart_PCI_dom pfam_PCI_dom,smart_PAM,smart_PCI_dom - no_errors COPS2 HGNC ENSG00000166200 105 0 0 74 23 23.7113 DMXL2 0 genome.wustl.edu 37 15 51799444 51799444 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 51799444 51799444 C T SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.2651 p.R884H 0.996 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 102 0 0 67 20 22.9885 SCG3 0 genome.wustl.edu 37 15 51974034 51974034 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 51974034 51974034 G T SNP SCG3 ENST00000220478 human ensembl 74_37 +1 known missense c.82 p.D28Y 1.000 NULL NULL - no_errors SCG3 HGNC ENSG00000104112 70 0 0 40 3 6.97674 LEO1 0 genome.wustl.edu 37 15 52244057 52244057 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 52244057 52244057 C T SNP LEO1 ENST00000299601 human ensembl 74_37 -1 known missense c.1595 p.R532H 1.000 pfam_Leo1 pfam_Leo1 - no_errors LEO1 HGNC ENSG00000166477 153 0 0 85 21 19.8113 UNC13C 0 genome.wustl.edu 37 15 54847700 54847700 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 54847700 54847700 C T SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.5948 p.A1983V 0.956 pfam_Munc13_subgr_dom-2 pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 40 0 0 20 4 16.6667 PRTG 0 genome.wustl.edu 37 15 55972291 55972291 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 55972291 55972291 G A SNP PRTG ENST00000389286 human ensembl 74_37 -1 known missense c.934 p.R312C 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors PRTG HGNC ENSG00000166450 56 0 0 40 4 9.09091 APH1B 0 genome.wustl.edu 37 15 63569850 63569850 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 63569850 63569850 G A SNP APH1B ENST00000261879 human ensembl 74_37 +1 known missense c.28 p.A10T 0.999 pfam_Aph-1 pfam_Aph-1 - no_errors APH1B HGNC ENSG00000138613 107 0 0 44 5 10.2041 PARP16 0 genome.wustl.edu 37 15 65555539 65555539 + Silent SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 65555539 65555539 G T SNP PARP16 ENST00000261888 human ensembl 74_37 -1 known silent c.639 p.A213 0.688 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP16 HGNC ENSG00000138617 55 0 0 19 10 34.4828 IGDCC3 0 genome.wustl.edu 37 15 65623855 65623855 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 65623855 65623855 G A SNP IGDCC3 ENST00000327987 human ensembl 74_37 -1 known missense c.1291 p.R431W 0.024 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGDCC3 HGNC ENSG00000174498 54 0 0 24 3 11.1111 SLC24A1 0 genome.wustl.edu 37 15 65917329 65917329 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 65917329 65917329 C T SNP SLC24A1 ENST00000261892 human ensembl 74_37 +1 known missense c.911 p.P304L 0.000 tigrfam_K-dep_Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A1 HGNC ENSG00000074621 161 0 0 65 25 27.7778 CLN6 0 genome.wustl.edu 37 15 68506646 68506646 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 68506646 68506646 C T SNP CLN6 ENST00000418702 human ensembl 74_37 -1 known missense c.176 p.R59H 0.041 NULL NULL - no_errors CLN6 HGNC ENSG00000128973 100 0 0 54 16 22.8571 FEM1B 0 genome.wustl.edu 37 15 68582359 68582359 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 68582359 68582359 G A SNP FEM1B ENST00000306917 human ensembl 74_37 +1 known silent c.663 p.T221 0.930 superfamily_Ankyrin_rpt-contain_dom,smart_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 FEM1B HGNC ENSG00000169018 105 0 0 58 16 21.6216 ITGA11 0 genome.wustl.edu 37 15 68612623 68612623 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 68612623 68612623 G A SNP ITGA11 ENST00000315757 human ensembl 74_37 -1 known missense c.2516 p.A839V 0.988 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA11 HGNC ENSG00000137809 59 0 0 25 13 34.2105 LRRC49 0 genome.wustl.edu 37 15 71185961 71185961 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 71185961 71185961 G A SNP LRRC49 ENST00000260382 human ensembl 74_37 +1 known silent c.87 p.S29 0.157 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC49 HGNC ENSG00000137821 66 0 0 18 14 43.75 THSD4 0 genome.wustl.edu 37 15 71535125 71535125 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 71535125 71535125 C A SNP THSD4 ENST00000261862 human ensembl 74_37 +1 known missense c.602 p.S201Y 0.837 pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors THSD4 HGNC ENSG00000187720 176 0 0 63 6 8.69565 ARIH1 0 genome.wustl.edu 37 15 72874426 72874426 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 72874426 72874426 C T SNP ARIH1 ENST00000379887 human ensembl 74_37 +1 known missense c.1487 p.A496V 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors ARIH1 HGNC ENSG00000166233 118 0 0 48 22 31.4286 HCN4 0 genome.wustl.edu 37 15 73617459 73617459 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 73617459 73617459 C T SNP HCN4 ENST00000261917 human ensembl 74_37 -1 known silent c.1815 p.T605 0.294 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom - no_errors HCN4 HGNC ENSG00000138622 197 0 0 81 39 32.5 GOLGA6A 0 genome.wustl.edu 37 15 74368307 74368307 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 74368307 74368307 G A SNP GOLGA6A ENST00000290438 human ensembl 74_37 -1 known missense c.584 p.A195V 0.000 NULL NULL - no_errors GOLGA6A HGNC ENSG00000159289 258 0 0 202 25 11.0132 GOLGA6C 0 genome.wustl.edu 37 15 75552792 75552792 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 75552792 75552792 C A SNP GOLGA6C ENST00000300576 human ensembl 74_37 +1 known missense c.163 p.P55T 0.075 NULL NULL - no_errors GOLGA6C HGNC ENSG00000167195 35 0 0 3 5 62.5 FAH 0 genome.wustl.edu 37 15 80454663 80454663 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 80454663 80454663 C T SNP FAH ENST00000261755 human ensembl 74_37 +1 known missense c.440 p.A147V 0.997 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel,tigrfam_Fumarylacetoacetase pfam_Fumarylacetoacetase_C,pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_C-rel,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase - no_errors FAH HGNC ENSG00000103876 178 0 0 70 30 30 ARNT2 0 genome.wustl.edu 37 15 80869226 80869226 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 80869226 80869226 C T SNP ARNT2 ENST00000303329 human ensembl 74_37 +1 known silent c.1533 p.S511 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT2 HGNC ENSG00000172379 237 0 0 134 12 8.21918 AKAP13 0 genome.wustl.edu 37 15 86266404 86266404 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 86266404 86266404 C T SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.6610 p.R2204C 0.948 superfamily_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 107 0 0 54 4 6.89655 AGBL1 0 genome.wustl.edu 37 15 86790991 86790991 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 86790991 86790991 G A SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known missense c.478 p.A160T 0.003 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 53 0 0 15 16 51.6129 TICRR 0 genome.wustl.edu 37 15 90170255 90170255 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 90170255 90170255 C T SNP TICRR ENST00000268138 human ensembl 74_37 +1 known missense c.5671 p.R1891C 1.000 NULL NULL - no_errors TICRR HGNC ENSG00000140534 256 0 0 130 42 24.4186 GDPGP1 0 genome.wustl.edu 37 15 90784507 90784507 + Nonsense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 90784507 90784507 C T SNP GDPGP1 ENST00000329600 human ensembl 74_37 +1 known nonsense c.367 p.Q123* 0.991 NULL NULL - no_errors GDPGP1 HGNC ENSG00000183208 198 0 0 104 32 23.5294 BLM 0 genome.wustl.edu 37 15 91333930 91333930 + Nonsense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 91333930 91333930 C T SNP BLM ENST00000355112 human ensembl 74_37 +1 known nonsense c.2875 p.R959* 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors BLM HGNC ENSG00000197299 172 0 0 79 31 28.1818 CHD2 0 genome.wustl.edu 37 15 93482905 93482905 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 93482905 93482905 G A SNP CHD2 ENST00000420239 human ensembl 74_37 +1 known missense c.649 p.A217T 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 125 0 0 97 24 19.8347 CHD2 0 genome.wustl.edu 37 15 93547920 93547920 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 93547920 93547920 G A SNP CHD2 ENST00000557381 human ensembl 74_37 +1 putative missense c.4352 p.S1451N 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 180 0 0 140 34 19.5402 CIITA 0 genome.wustl.edu 37 16 11002909 11002909 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 11002909 11002909 C T SNP CIITA ENST00000324288 human ensembl 74_37 +1 known missense c.2681 p.A894V 0.217 NULL superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC ENSG00000179583 82 0 0 37 16 30.1887 ERCC4 0 genome.wustl.edu 37 16 14016006 14016006 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 14016006 14016006 C T SNP ERCC4 ENST00000311895 human ensembl 74_37 +1 known missense c.326 p.A109V 1.000 tigrfam_Rad1 pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1 - no_errors ERCC4 HGNC ENSG00000175595 39 0 0 21 3 12.5 NOMO1 0 genome.wustl.edu 37 16 14946375 14946375 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 14946375 14946375 G A SNP NOMO1 ENST00000287667 human ensembl 74_37 +1 known missense c.671 p.R224Q 0.998 superfamily_CarboxyPept-like_regulatory pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO1 HGNC ENSG00000103512 18 0 0 10 5 33.3333 ABCC1 0 genome.wustl.edu 37 16 16235070 16235070 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 16235070 16235070 G A SNP ABCC1 ENST00000399408 human ensembl 74_37 +1 known missense c.4558 p.A1520T 0.000 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC1 HGNC ENSG00000103222 337 0 0 178 38 17.5926 ABCC6 0 genome.wustl.edu 37 16 16297376 16297376 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 16297376 16297376 G A SNP ABCC6 ENST00000205557 human ensembl 74_37 -1 known missense c.889 p.R297C 0.001 superfamily_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 72 0 0 44 14 24.1379 IGFALS 0 genome.wustl.edu 37 16 1841355 1841355 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 1841355 1841355 G A SNP IGFALS ENST00000415638 human ensembl 74_37 -1 known missense c.1178 p.A393V 0.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors IGFALS HGNC ENSG00000099769 93 0 0 29 15 34.0909 C16orf62 0 genome.wustl.edu 37 16 19639974 19639974 + Missense_Mutation SNP T T A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 19639974 19639974 T A SNP C16orf62 ENST00000438132 human ensembl 74_37 +1 known missense c.1666 p.S556T 1.000 NULL NULL - no_errors C16orf62 HGNC ENSG00000103544 204 0 0 109 40 26.8456 ANKS4B 0 genome.wustl.edu 37 16 21261925 21261925 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 21261925 21261925 G A SNP ANKS4B ENST00000311620 human ensembl 74_37 +1 known silent c.1038 p.T346 0.382 superfamily_SAM/pointed,smart_SAM pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKS4B HGNC ENSG00000175311 83 0 0 42 17 28.8136 PKD1 0 genome.wustl.edu 37 16 2147444 2147444 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 2147444 2147444 C T SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known silent c.10281 p.P3427 0.760 NULL pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 74 0 0 39 3 7.14286 PKD1 0 genome.wustl.edu 37 16 2161489 2161489 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 2161489 2161489 C T SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.3679 p.A1227T 0.000 pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 32 0 0 18 6 25 OTOA 0 genome.wustl.edu 37 16 21709120 21709120 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 21709120 21709120 C T SNP OTOA ENST00000286149 human ensembl 74_37 +1 known missense c.764 p.A255V 1.000 NULL NULL - no_errors OTOA HGNC ENSG00000155719 149 0 0 77 19 19.7917 OTOA 0 genome.wustl.edu 37 16 21716620 21716620 + RNA SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 21716620 21716620 C T SNP OTOA ENST00000569064 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors OTOA HGNC ENSG00000155719 112 0 0 56 20 26.3158 VWA3A 0 genome.wustl.edu 37 16 22122251 22122251 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 22122251 22122251 G A SNP VWA3A ENST00000389398 human ensembl 74_37 +1 known missense c.625 p.V209I 0.998 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3A HGNC ENSG00000175267 28 0 0 14 4 22.2222 MLST8 0 genome.wustl.edu 37 16 2258808 2258808 + Missense_Mutation SNP T T A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 2258808 2258808 T A SNP MLST8 ENST00000397124 human ensembl 74_37 +1 known missense c.911 p.I304N 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors MLST8 HGNC ENSG00000167965 412 0 0 162 50 23.5849 E4F1 0 genome.wustl.edu 37 16 2279661 2279661 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 2279661 2279661 G A SNP E4F1 ENST00000301727 human ensembl 74_37 +1 known missense c.400 p.A134T 0.013 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors E4F1 HGNC ENSG00000167967 200 0 0 125 7 5.30303 USP31 0 genome.wustl.edu 37 16 23080714 23080714 + Silent SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 23080714 23080714 A G SNP USP31 ENST00000219689 human ensembl 74_37 -1 known silent c.2712 p.D904 0.998 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP31 HGNC ENSG00000103404 65 0 0 40 3 6.97674 ENSG00000260741 0 genome.wustl.edu 37 16 23224386 23224386 + RNA SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 23224386 23224386 G T SNP ENSG00000260741 ENST00000563471 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTC-391G2.1 Clone_based_vega_gene ENSG00000260741 63 0 0 25 8 24.2424 HS3ST4 0 genome.wustl.edu 37 16 25704428 25704428 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 25704428 25704428 G A SNP HS3ST4 ENST00000331351 human ensembl 74_37 +1 known silent c.690 p.P230 0.998 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST4 HGNC ENSG00000182601 41 0 0 29 7 19.4444 GSG1L 0 genome.wustl.edu 37 16 27840132 27840132 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 27840132 27840132 C T SNP GSG1L ENST00000447459 human ensembl 74_37 -1 known missense c.808 p.A270T 1.000 NULL pfam_GSG-1,pfam_PMP22/EMP/MP20/Claudin - no_errors GSG1L HGNC ENSG00000169181 149 0 0 66 26 28.2609 XPO6 0 genome.wustl.edu 37 16 28167623 28167623 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 28167623 28167623 G A SNP XPO6 ENST00000304658 human ensembl 74_37 -1 known missense c.869 p.A290V 0.881 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO6 HGNC ENSG00000169180 139 0 0 85 25 22.7273 SPNS1 0 genome.wustl.edu 37 16 28993310 28993310 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 28993310 28993310 C T SNP SPNS1 ENST00000311008 human ensembl 74_37 +1 known missense c.898 p.R300C 0.997 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS1 HGNC ENSG00000169682 83 0 0 29 19 39.5833 MVP 0 genome.wustl.edu 37 16 29847055 29847055 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 29847055 29847055 C T SNP MVP ENST00000357402 human ensembl 74_37 +1 known missense c.608 p.A203V 0.997 pfam_Vault_N pfam_Vault_N,pfam_MVP_shoulder - no_errors MVP HGNC ENSG00000013364 58 0 0 12 7 36.8421 TAOK2 0 genome.wustl.edu 37 16 29998812 29998812 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 29998812 29998812 G T SNP TAOK2 ENST00000308893 human ensembl 74_37 +1 known missense c.3219 p.Q1073H 0.997 NULL pfam_Prot_kinase_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_dom - no_errors TAOK2 HGNC ENSG00000149930 75 0 0 26 14 35 CLDN9 0 genome.wustl.edu 37 16 3063540 3063540 + Silent SNP G G C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 3063540 3063540 G C SNP CLDN9 ENST00000445369 human ensembl 74_37 +1 known silent c.177 p.T59 0.002 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin9 - no_errors CLDN9 HGNC ENSG00000213937 151 0 0 77 20 20.6186 ORAI3 0 genome.wustl.edu 37 16 30960725 30960725 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 30960725 30960725 A G SNP ORAI3 ENST00000318663 human ensembl 74_37 +1 known missense c.115 p.M39V 1.000 pfam_CRAC_channel pfam_CRAC_channel - no_errors ORAI3 HGNC ENSG00000175938 23 0 0 10 5 33.3333 BCKDK 0 genome.wustl.edu 37 16 31123326 31123326 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 31123326 31123326 G A SNP BCKDK ENST00000219794 human ensembl 74_37 +1 known missense c.1072 p.A358T 0.225 pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core pfam_BCDHK/PDK_N,pfam_HATPase_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core,prints_Sig_transdc_His_kin-like_C - no_errors BCKDK HGNC ENSG00000103507 73 0 0 30 16 34.7826 HERC2P4 0 genome.wustl.edu 37 16 32192625 32192625 + RNA SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 32192625 32192625 A C SNP HERC2P4 ENST00000568097 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P4 HGNC ENSG00000230267 44 0 0 17 5 22.7273 MEFV 0 genome.wustl.edu 37 16 3306393 3306393 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 3306393 3306393 G A SNP MEFV ENST00000219596 human ensembl 74_37 -1 known silent c.195 p.Y65 0.002 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like_dom,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 145 0 0 84 23 21.4953 OR2C1 0 genome.wustl.edu 37 16 3406837 3406837 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 3406837 3406837 C T SNP OR2C1 ENST00000304936 human ensembl 74_37 +1 known silent c.897 p.G299 0.977 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2C1 HGNC ENSG00000168158 41 0 0 27 13 32.5 NLRC3 0 genome.wustl.edu 37 16 3602259 3602259 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 3602259 3602259 C T SNP NLRC3 ENST00000448023 human ensembl 74_37 -1 known silent c.2430 p.G810 0.933 smart_Leu-rich_rpt_RNase_inh_sub-typ superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 91 0 0 57 14 19.7183 NLRC3 0 genome.wustl.edu 37 16 3614879 3614879 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 3614879 3614879 C T SNP NLRC3 ENST00000448023 human ensembl 74_37 -1 known silent c.300 p.P100 0.000 NULL superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 45 0 0 26 12 31.5789 SLX4 0 genome.wustl.edu 37 16 3639977 3639977 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 3639977 3639977 G A SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known missense c.3662 p.A1221V 0.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 130 1 0.763359 78 19 19.5876 SLX4 0 genome.wustl.edu 37 16 3640612 3640612 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 3640612 3640612 G A SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known silent c.3027 p.G1009 0.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 110 0 0 63 18 22.2222 DNASE1 0 genome.wustl.edu 37 16 3707190 3707190 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 3707190 3707190 C T SNP DNASE1 ENST00000246949 human ensembl 74_37 +1 known silent c.552 p.D184 0.994 pirsf_DNase_I,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,prints_DNase_I pirsf_DNase_I,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,prints_DNase_I - no_errors DNASE1 HGNC ENSG00000213918 173 0 0 101 25 19.8413 CREBBP 0 genome.wustl.edu 37 16 3788617 3788617 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 3788617 3788617 C T SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.4337 p.R1446H 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 54 0 0 29 9 23.6842 AXIN1 0 genome.wustl.edu 37 16 396908 396908 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 396908 396908 C T SNP AXIN1 ENST00000262320 human ensembl 74_37 -1 known missense c.118 p.A40T 0.000 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN1 HGNC ENSG00000103126 67 0 0 37 12 24.4898 ADCY9 0 genome.wustl.edu 37 16 4165068 4165068 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 4165068 4165068 C T SNP ADCY9 ENST00000294016 human ensembl 74_37 -1 known missense c.376 p.A126T 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 118 0 0 63 15 19.2308 LOC100134368 0 genome.wustl.edu 37 16 437229 437229 + RNA SNP T T A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 437229 437229 T A SNP LOC100134368 ENST00000457760 human ensembl 74_37 +1 known rna NULL NULL 0.136 - - - no_errors Z97634.3 Clone_based_vega_gene ENSG00000236829 68 0 0 46 14 23.3333 NETO2 0 genome.wustl.edu 37 16 47117434 47117434 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 47117434 47117434 G A SNP NETO2 ENST00000562435 human ensembl 74_37 -1 known missense c.1276 p.R426W 1.000 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt - no_errors NETO2 HGNC ENSG00000171208 157 1 0.632911 62 35 36.0825 ADCY7 0 genome.wustl.edu 37 16 50346071 50346071 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 50346071 50346071 C T SNP ADCY7 ENST00000254235 human ensembl 74_37 +1 known missense c.2573 p.A858V 1.000 smart_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 120 0 0 40 12 23.0769 MMP2 0 genome.wustl.edu 37 16 55513487 55513487 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 55513487 55513487 G A SNP MMP2 ENST00000219070 human ensembl 74_37 +1 known silent c.96 p.S32 0.595 superfamily_Peptidoglycan-bd-like pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP2 HGNC ENSG00000087245 56 0 0 17 10 37.037 SLC6A2 0 genome.wustl.edu 37 16 55705876 55705876 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 55705876 55705876 G A SNP SLC6A2 ENST00000219833 human ensembl 74_37 +1 known missense c.433 p.A145T 0.999 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline - no_errors SLC6A2 HGNC ENSG00000103546 69 0 0 28 15 34.8837 FAM192A 0 genome.wustl.edu 37 16 57207746 57207746 + Silent SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 57207746 57207746 A G SNP FAM192A ENST00000309137 human ensembl 74_37 -1 known silent c.21 p.G7 0.995 NULL pfam_Nefa_Nip30_N - no_errors FAM192A HGNC ENSG00000172775 184 0 0 67 38 36.1905 CCDC135 0 genome.wustl.edu 37 16 57760043 57760043 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 57760043 57760043 G A SNP CCDC135 ENST00000360716 human ensembl 74_37 +1 known missense c.1822 p.V608M 0.271 NULL NULL - no_errors CCDC135 HGNC ENSG00000159625 79 0 0 25 11 30.5556 CAPN15 0 genome.wustl.edu 37 16 599089 599089 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 599089 599089 C T SNP CAPN15 ENST00000219611 human ensembl 74_37 +1 known silent c.1546 p.L516 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN15 HGNC ENSG00000103326 221 0 0 116 43 27.044 C16orf11 0 genome.wustl.edu 37 16 613643 613643 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 613643 613643 G A SNP C16orf11 ENST00000409413 human ensembl 74_37 +1 known missense c.349 p.V117M 0.000 NULL NULL - no_errors C16orf11 HGNC ENSG00000161992 10 0 0 6 5 45.4545 CDH11 0 genome.wustl.edu 37 16 65016160 65016160 + Missense_Mutation SNP C C G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 65016160 65016160 C G SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.1044 p.E348D 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 101 0 0 33 19 36.5385 FAM65A 0 genome.wustl.edu 37 16 67574500 67574500 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 67574500 67574500 C T SNP FAM65A ENST00000422602 human ensembl 74_37 +1 known missense c.754 p.R252C 1.000 NULL superfamily_ARM-type_fold,superfamily_HR1_rho-bd - no_errors FAM65A HGNC ENSG00000039523 133 0 0 41 33 44.5946 ESRP2 0 genome.wustl.edu 37 16 68269866 68269866 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 68269866 68269866 C T SNP ESRP2 ENST00000565858 human ensembl 74_37 -1 known missense c.83 p.G28E 0.005 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom,smart_RRM_dom - no_errors ESRP2 HGNC ENSG00000103067 39 0 0 3 14 82.3529 PLA2G15 0 genome.wustl.edu 37 16 68293534 68293534 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 68293534 68293534 C T SNP PLA2G15 ENST00000219345 human ensembl 74_37 +1 known silent c.1213 p.L405 0.981 NULL pfam_LACT/PDAT_acylTrfase - no_errors PLA2G15 HGNC ENSG00000103066 110 0 0 58 4 6.45161 SMPD3 0 genome.wustl.edu 37 16 68405290 68405290 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 68405290 68405290 G A SNP SMPD3 ENST00000219334 human ensembl 74_37 -1 known silent c.795 p.G265 0.067 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors SMPD3 HGNC ENSG00000103056 59 0 0 9 12 57.1429 SF3B3 0 genome.wustl.edu 37 16 70602280 70602280 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 70602280 70602280 G A SNP SF3B3 ENST00000302516 human ensembl 74_37 +1 known missense c.3047 p.R1016H 1.000 pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 97 0 0 53 4 7.01754 VAC14 0 genome.wustl.edu 37 16 70820182 70820182 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 70820182 70820182 T G SNP VAC14 ENST00000261776 human ensembl 74_37 -1 known missense c.191 p.Q64P 1.000 superfamily_ARM-type_fold pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold - no_errors VAC14 HGNC ENSG00000103043 142 0 0 52 26 33.3333 CDYL2 0 genome.wustl.edu 37 16 80642064 80642064 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 80642064 80642064 C T SNP CDYL2 ENST00000570137 human ensembl 74_37 -1 known silent c.1287 p.S429 0.203 pfam_Crotonase_core_superfam pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL2 HGNC ENSG00000166446 16 0 0 3 2 40 HSD17B2 0 genome.wustl.edu 37 16 82124512 82124512 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 82124512 82124512 G A SNP HSD17B2 ENST00000199936 human ensembl 74_37 +1 known missense c.670 p.A224T 0.077 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B2 HGNC ENSG00000086696 45 0 0 16 9 36 MBTPS1 0 genome.wustl.edu 37 16 84125426 84125426 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 84125426 84125426 C T SNP MBTPS1 ENST00000343411 human ensembl 74_37 -1 known missense c.874 p.A292T 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors MBTPS1 HGNC ENSG00000140943 106 0 0 38 8 17.3913 SNAI3 0 genome.wustl.edu 37 16 88744995 88744995 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 88744995 88744995 G A SNP SNAI3 ENST00000332281 human ensembl 74_37 -1 known missense c.740 p.A247V 0.999 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI3 HGNC ENSG00000185669 67 0 0 32 2 5.88235 CBFA2T3 0 genome.wustl.edu 37 16 88945709 88945709 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 88945709 88945709 G A SNP CBFA2T3 ENST00000268679 human ensembl 74_37 -1 known missense c.1631 p.T544M 0.997 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16 - no_errors CBFA2T3 HGNC ENSG00000129993 116 0 0 36 9 20 ANKRD11 0 genome.wustl.edu 37 16 89349483 89349483 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 89349483 89349483 C A SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.3467 p.R1156L 0.009 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 147 0 0 57 28 32.9412 ANKRD11 0 genome.wustl.edu 37 16 89351149 89351149 + Nonsense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 89351149 89351149 G A SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known nonsense c.1801 p.R601* 0.506 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 69 0 0 19 13 40.625 MYH3 0 genome.wustl.edu 37 17 10543508 10543508 + Silent SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 10543508 10543508 G T SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known silent c.2487 p.P829 0.993 superfamily_P-loop_NTPase pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 98 0 0 27 6 18.1818 CDRT4 0 genome.wustl.edu 37 17 15341239 15341239 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 15341239 15341239 C T SNP CDRT4 ENST00000312177 human ensembl 74_37 -1 known missense c.307 p.A103T 0.000 NULL superfamily_RNA_pol_subH/Rpb5_C - no_errors CDRT4 HGNC ENSG00000239704 126 0 0 15 19 55.8824 TRPV2 0 genome.wustl.edu 37 17 16326788 16326788 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 16326788 16326788 C A SNP TRPV2 ENST00000338560 human ensembl 74_37 +1 known missense c.631 p.L211I 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV2 HGNC ENSG00000187688 83 0 0 13 5 27.7778 RAI1 0 genome.wustl.edu 37 17 17699762 17699762 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 17699762 17699762 G A SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known missense c.3500 p.R1167Q 0.984 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 115 0 0 36 4 10 SPECC1 0 genome.wustl.edu 37 17 20149379 20149379 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 20149379 20149379 G A SNP SPECC1 ENST00000261503 human ensembl 74_37 +1 known missense c.2492 p.R831H 0.108 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 85 0 0 12 13 52 MNT 0 genome.wustl.edu 37 17 2290499 2290499 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 2290499 2290499 G A SNP MNT ENST00000174618 human ensembl 74_37 -1 known missense c.1445 p.A482V 0.956 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MNT HGNC ENSG00000070444 24 0 0 4 7 63.6364 C17orf97 0 genome.wustl.edu 37 17 263295 263295 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 263295 263295 G A SNP C17orf97 ENST00000360127 human ensembl 74_37 +1 known missense c.661 p.A221T 0.000 NULL NULL - no_errors C17orf97 HGNC ENSG00000187624 40 0 0 7 7 50 KRT18P55 0 genome.wustl.edu 37 17 26604314 26604314 + RNA SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 26604314 26604314 C T SNP KRT18P55 ENST00000577198 human ensembl 74_37 -1 known rna NULL NULL 0.954 - - - no_errors KRT18P55 HGNC ENSG00000265480 119 0 0 63 19 23.1707 VTN 0 genome.wustl.edu 37 17 26691501 26691501 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 26691501 26691501 C T SNP VTN ENST00000431468 human ensembl 74_37 -1 known missense c.440 p.R147H 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors VTN HGNC ENSG00000109072 20 0 0 16 4 20 VTN 0 genome.wustl.edu 37 17 26696033 26696033 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 26696033 26696033 C T SNP VTN ENST00000226218 human ensembl 74_37 -1 known missense c.686 p.R229H 1.000 pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pfam_Hemopexin-like_repeat,pfam_Somatomedin_B_dom,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors VTN HGNC ENSG00000109072 189 0 0 103 29 21.9697 SUPT6H 0 genome.wustl.edu 37 17 27024691 27024691 + Silent SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 27024691 27024691 C A SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known silent c.4263 p.S1421 1.000 smart_SH2,pirsf_TF_Spt6,pfscan_SH2 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 76 0 0 37 14 27.451 NUFIP2 0 genome.wustl.edu 37 17 27614007 27614007 + Silent SNP G G C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 27614007 27614007 G C SNP NUFIP2 ENST00000225388 human ensembl 74_37 -1 known silent c.1005 p.T335 1.000 NULL NULL - no_errors NUFIP2 HGNC ENSG00000108256 205 0 0 75 85 53.125 TP53I13 0 genome.wustl.edu 37 17 27899268 27899268 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 27899268 27899268 C T SNP TP53I13 ENST00000301057 human ensembl 74_37 +1 known missense c.622 p.R208W 0.994 NULL NULL - no_errors TP53I13 HGNC ENSG00000167543 79 0 0 41 5 10.8696 GIT1 0 genome.wustl.edu 37 17 27903134 27903134 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 27903134 27903134 C T SNP GIT1 ENST00000394869 human ensembl 74_37 -1 known missense c.1654 p.A552T 0.045 NULL pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors GIT1 HGNC ENSG00000108262 142 0 0 72 25 25.7732 SSH2 0 genome.wustl.edu 37 17 27963291 27963291 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 27963291 27963291 A G SNP SSH2 ENST00000269033 human ensembl 74_37 -1 known missense c.1876 p.S626P 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 146 1 0.680272 82 32 28.0702 EFCAB5 0 genome.wustl.edu 37 17 28419105 28419105 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 28419105 28419105 C T SNP EFCAB5 ENST00000394835 human ensembl 74_37 +1 known missense c.4154 p.A1385V 0.001 NULL pfscan_EF_hand_dom - no_errors EFCAB5 HGNC ENSG00000176927 49 0 0 29 9 23.6842 NF1 0 genome.wustl.edu 37 17 29654702 29654702 + Silent SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 29654702 29654702 A G SNP NF1 ENST00000358273 human ensembl 74_37 +1 known silent c.5454 p.E1818 0.987 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 157 0 0 92 30 24.5902 ASIC2 0 genome.wustl.edu 37 17 31343004 31343004 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 31343004 31343004 G A SNP ASIC2 ENST00000225823 human ensembl 74_37 -1 known silent c.1575 p.S525 1.000 tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC2 HGNC ENSG00000108684 100 0 0 51 12 19.0476 ASIC2 0 genome.wustl.edu 37 17 31348260 31348260 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 31348260 31348260 G A SNP ASIC2 ENST00000225823 human ensembl 74_37 -1 known missense c.1418 p.A473V 1.000 pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC2 HGNC ENSG00000108684 76 0 0 53 14 20.8955 ASIC2 0 genome.wustl.edu 37 17 31618530 31618530 + Nonsense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 31618530 31618530 C A SNP ASIC2 ENST00000225823 human ensembl 74_37 -1 known nonsense c.604 p.G202* 1.000 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC2 HGNC ENSG00000108684 94 0 0 67 12 15.1899 OR3A3 0 genome.wustl.edu 37 17 3324785 3324785 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 3324785 3324785 C T SNP OR3A3 ENST00000291231 human ensembl 74_37 +1 known silent c.924 p.G308 0.227 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR3A3 HGNC ENSG00000159961 126 0 0 20 26 56.5217 LIG3 0 genome.wustl.edu 37 17 33319550 33319550 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 33319550 33319550 G A SNP LIG3 ENST00000378526 human ensembl 74_37 +1 known missense c.1294 p.A432T 1.000 pfam_DNA_ligase_ATP-dep_N,superfamily_DNA_ligase_ATP-dep_N,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC ENSG00000005156 180 0 0 93 29 23.7705 GGNBP2 0 genome.wustl.edu 37 17 34935676 34935676 + Nonsense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 34935676 34935676 C T SNP GGNBP2 ENST00000304718 human ensembl 74_37 +1 known nonsense c.847 p.R283* 1.000 NULL NULL - no_errors GGNBP2 HGNC ENSG00000005955 162 0 0 90 23 20.354 DDX52 0 genome.wustl.edu 37 17 35992179 35992179 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 35992179 35992179 C T SNP DDX52 ENST00000349699 human ensembl 74_37 -1 known silent c.567 p.T189 0.009 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_RNA_helicase_DEAD_Q_motif pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX52 HGNC ENSG00000141141 142 0 0 89 28 23.9316 SOCS7 0 genome.wustl.edu 37 17 36551660 36551660 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 36551660 36551660 G A SNP SOCS7 ENST00000577233 human ensembl 74_37 +1 known missense c.1588 p.V530I 1.000 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS7 HGNC ENSG00000174111 98 0 0 49 23 31.9444 CACNB1 0 genome.wustl.edu 37 17 37351142 37351142 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 37351142 37351142 G A SNP CACNB1 ENST00000394303 human ensembl 74_37 -1 known missense c.166 p.R56C 1.000 NULL pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su - no_errors CACNB1 HGNC ENSG00000067191 74 0 0 55 11 16.6667 NEUROD2 0 genome.wustl.edu 37 17 37762614 37762614 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 37762614 37762614 C A SNP NEUROD2 ENST00000302584 human ensembl 74_37 -1 known missense c.239 p.G80V 1.000 pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD2 HGNC ENSG00000171532 12 0 0 4 3 42.8571 PNMT 0 genome.wustl.edu 37 17 37826571 37826571 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 37826571 37826571 G A SNP PNMT ENST00000269582 human ensembl 74_37 +1 known missense c.778 p.A260T 0.001 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors PNMT HGNC ENSG00000141744 32 0 0 13 8 38.0952 NR1D1 0 genome.wustl.edu 37 17 38252038 38252038 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 38252038 38252038 C T SNP NR1D1 ENST00000246672 human ensembl 74_37 -1 known missense c.907 p.A303T 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_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1D1 HGNC ENSG00000126368 82 0 0 38 12 24 CCR7 0 genome.wustl.edu 37 17 38711227 38711227 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 38711227 38711227 T C SNP CCR7 ENST00000246657 human ensembl 74_37 -1 known missense c.904 p.K302E 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CCRL1 - no_errors CCR7 HGNC ENSG00000126353 103 0 0 50 22 30.5556 KRT24 0 genome.wustl.edu 37 17 38859491 38859491 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 38859491 38859491 G A SNP KRT24 ENST00000264651 human ensembl 74_37 -1 known missense c.455 p.A152V 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT24 HGNC ENSG00000167916 288 0 0 162 73 31.0638 KRT27 0 genome.wustl.edu 37 17 38938374 38938374 + Silent SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 38938374 38938374 T C SNP KRT27 ENST00000301656 human ensembl 74_37 -1 known silent c.372 p.G124 0.446 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT27 HGNC ENSG00000171446 155 0 0 80 34 29.8246 KRT28 0 genome.wustl.edu 37 17 38953476 38953476 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 38953476 38953476 C T SNP KRT28 ENST00000306658 human ensembl 74_37 -1 known missense c.748 p.A250T 1.000 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT28 HGNC ENSG00000173908 130 0 0 78 32 29.0909 JUP 0 genome.wustl.edu 37 17 39923794 39923794 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 39923794 39923794 G A SNP JUP ENST00000310706 human ensembl 74_37 -1 known missense c.746 p.T249M 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors JUP HGNC ENSG00000173801 84 0 0 38 14 26.9231 JUP 0 genome.wustl.edu 37 17 39925733 39925733 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 39925733 39925733 G A SNP JUP ENST00000310706 human ensembl 74_37 -1 known silent c.405 p.D135 0.566 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors JUP HGNC ENSG00000173801 28 0 0 14 3 17.6471 KLHL11 0 genome.wustl.edu 37 17 40010749 40010749 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 40010749 40010749 C T SNP KLHL11 ENST00000319121 human ensembl 74_37 -1 known missense c.1370 p.S457N 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL11 HGNC ENSG00000178502 164 1 0.606061 92 37 28.6822 TTC25 0 genome.wustl.edu 37 17 40094982 40094982 + RNA SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 40094982 40094982 T C SNP TTC25 ENST00000591658 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TTC25 HGNC ENSG00000204815 223 0 0 118 41 25.7862 CNP 0 genome.wustl.edu 37 17 40120221 40120221 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 40120221 40120221 C A SNP CNP ENST00000393892 human ensembl 74_37 +1 known missense c.139 p.L47I 0.921 pfam_Zeta_toxin_domain,pirsf_CNPase pfam_CNPase,pfam_Zeta_toxin_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,superfamily_P-loop_NTPase,pirsf_CNPase - no_errors CNP HGNC ENSG00000173786 78 0 0 40 21 34.4262 DHX58 0 genome.wustl.edu 37 17 40255695 40255695 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 40255695 40255695 G T SNP DHX58 ENST00000251642 human ensembl 74_37 -1 known missense c.1685 p.A562D 0.001 pfam_RIG-I_C-RD pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX58 HGNC ENSG00000108771 104 0 0 73 23 23.9583 STAT5B 0 genome.wustl.edu 37 17 40369449 40369449 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 40369449 40369449 G A SNP STAT5B ENST00000293328 human ensembl 74_37 -1 known silent c.1203 p.C401 0.394 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5B HGNC ENSG00000173757 109 1 0.909091 53 21 28.3784 ETV4 0 genome.wustl.edu 37 17 41611239 41611239 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 41611239 41611239 C T SNP ETV4 ENST00000319349 human ensembl 74_37 -1 known missense c.371 p.C124Y 1.000 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,prints_Ets_dom,pfscan_Ets_dom - no_errors ETV4 HGNC ENSG00000175832 72 0 0 31 8 20.5128 ITGA2B 0 genome.wustl.edu 37 17 42461008 42461008 + Nonsense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 42461008 42461008 C A SNP ITGA2B ENST00000262407 human ensembl 74_37 -1 known nonsense c.1063 p.E355* 1.000 pfam_FG-GAP,smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA2B HGNC ENSG00000005961 24 0 0 5 8 61.5385 CRHR1 0 genome.wustl.edu 37 17 43907506 43907506 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 43907506 43907506 G A SNP CRHR1 ENST00000398285 human ensembl 74_37 +1 known missense c.568 p.A190T 0.998 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF1_rcpt,prints_GPCR_2_diuretic_rcpt - no_errors CRHR1 HGNC ENSG00000120088 178 0 0 92 31 25.2033 CRHR1 0 genome.wustl.edu 37 17 43907524 43907524 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 43907524 43907524 G A SNP CRHR1 ENST00000398285 human ensembl 74_37 +1 known missense c.586 p.A196T 0.998 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF1_rcpt,prints_GPCR_2_diuretic_rcpt - no_errors CRHR1 HGNC ENSG00000120088 136 0 0 62 30 32.6087 DLX3 0 genome.wustl.edu 37 17 48069204 48069204 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 48069204 48069204 G A SNP DLX3 ENST00000434704 human ensembl 74_37 -1 known missense c.541 p.R181C 0.994 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX3 HGNC ENSG00000064195 85 0 0 60 14 18.9189 ITGA3 0 genome.wustl.edu 37 17 48148760 48148760 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 48148760 48148760 C T SNP ITGA3 ENST00000320031 human ensembl 74_37 +1 known silent c.837 p.G279 0.144 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA3 HGNC ENSG00000005884 88 0 0 59 12 16.9014 PPP1R9B 0 genome.wustl.edu 37 17 48218655 48218655 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 48218655 48218655 C A SNP PPP1R9B ENST00000316878 human ensembl 74_37 -1 known missense c.1703 p.R568L 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PPP1R9B HGNC ENSG00000108819 15 0 0 9 4 30.7692 COL1A1 0 genome.wustl.edu 37 17 48268238 48268238 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 48268238 48268238 G A SNP COL1A1 ENST00000225964 human ensembl 74_37 -1 known silent c.2283 p.G761 0.329 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC ENSG00000108821 87 0 0 51 4 7.27273 MRPL27 0 genome.wustl.edu 37 17 48447421 48447421 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 48447421 48447421 C T SNP MRPL27 ENST00000225969 human ensembl 74_37 -1 known missense c.212 p.R71H 1.000 pfam_Ribosomal_L27,prints_Ribosomal_L27 pfam_Ribosomal_L27,prints_Ribosomal_L27 - no_errors MRPL27 HGNC ENSG00000108826 74 0 0 40 9 18.3673 DGKE 0 genome.wustl.edu 37 17 54912364 54912364 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 54912364 54912364 C A SNP DGKE ENST00000284061 human ensembl 74_37 +1 known missense c.208 p.Q70K 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKE HGNC ENSG00000153933 132 0 0 78 19 19.5876 SMG8 0 genome.wustl.edu 37 17 57290958 57290958 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 57290958 57290958 C A SNP SMG8 ENST00000300917 human ensembl 74_37 +1 known missense c.2774 p.P925H 1.000 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC ENSG00000167447 170 0 0 92 28 23.3333 CA4 0 genome.wustl.edu 37 17 58233957 58233957 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 58233957 58233957 G A SNP CA4 ENST00000300900 human ensembl 74_37 +1 known missense c.149 p.R50H 0.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA4 HGNC ENSG00000167434 135 0 0 75 17 18.4783 DDX42 0 genome.wustl.edu 37 17 61895287 61895287 + Silent SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 61895287 61895287 C A SNP DDX42 ENST00000389924 human ensembl 74_37 +1 known silent c.2346 p.A782 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX42 HGNC ENSG00000198231 95 0 0 43 22 33.8462 SCN4A 0 genome.wustl.edu 37 17 62049733 62049733 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 62049733 62049733 G A SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known missense c.371 p.A124V 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 56 0 0 21 10 32.2581 TEX2 0 genome.wustl.edu 37 17 62291475 62291475 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 62291475 62291475 C T SNP TEX2 ENST00000258991 human ensembl 74_37 -1 known missense c.103 p.A35T 1.000 NULL pfam_DUF2404 - no_errors TEX2 HGNC ENSG00000136478 110 0 0 56 13 18.8406 LOC146880 0 genome.wustl.edu 37 17 62750142 62750142 + RNA SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 62750142 62750142 G A SNP LOC146880 ENST00000400873 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors hsa-mir-6080 miRBase ENSG00000215769 428 1 0.2331 258 77 22.9851 PITPNM3 0 genome.wustl.edu 37 17 6358773 6358773 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 6358773 6358773 G T SNP PITPNM3 ENST00000262483 human ensembl 74_37 -1 known missense c.2810 p.A937D 0.292 NULL pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 77 0 0 3 10 76.9231 CEP112 0 genome.wustl.edu 37 17 63685297 63685297 + Nonsense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 63685297 63685297 G A SNP CEP112 ENST00000392769 human ensembl 74_37 -1 known nonsense c.2647 p.R883* 0.998 NULL superfamily_t-SNARE - no_errors CEP112 HGNC ENSG00000154240 90 0 0 62 14 18.4211 PITPNM3 0 genome.wustl.edu 37 17 6371655 6371655 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 6371655 6371655 G A SNP PITPNM3 ENST00000262483 human ensembl 74_37 -1 known missense c.1780 p.R594C 0.992 pfam_DDHD,pfscan_DDHD pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 140 0 0 38 3 7.31707 CEP112 0 genome.wustl.edu 37 17 64049870 64049870 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 64049870 64049870 G A SNP CEP112 ENST00000392769 human ensembl 74_37 -1 known missense c.1202 p.A401V 0.852 NULL superfamily_t-SNARE - no_errors CEP112 HGNC ENSG00000154240 229 1 0.434783 148 42 22.1053 PRKCA 0 genome.wustl.edu 37 17 64770155 64770155 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 64770155 64770155 C T SNP PRKCA ENST00000413366 human ensembl 74_37 +1 known silent c.1575 p.G525 0.967 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCA HGNC ENSG00000154229 180 0 0 84 41 32.8 CACNG5 0 genome.wustl.edu 37 17 64873620 64873620 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 64873620 64873620 G A SNP CACNG5 ENST00000169565 human ensembl 74_37 +1 known missense c.170 p.G57D 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su - no_errors CACNG5 HGNC ENSG00000075429 101 0 0 50 16 24.2424 CACNG5 0 genome.wustl.edu 37 17 64875104 64875104 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 64875104 64875104 C T SNP CACNG5 ENST00000169565 human ensembl 74_37 +1 known missense c.211 p.R71C 0.999 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su - no_errors CACNG5 HGNC ENSG00000075429 138 0 0 58 24 29.2683 BPTF 0 genome.wustl.edu 37 17 65928070 65928070 + Missense_Mutation SNP G G C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 65928070 65928070 G C SNP BPTF ENST00000321892 human ensembl 74_37 +1 known missense c.6572 p.R2191T 1.000 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 87 0 0 60 21 25.9259 ARSG 0 genome.wustl.edu 37 17 66391272 66391272 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 66391272 66391272 C T SNP ARSG ENST00000448504 human ensembl 74_37 +1 known missense c.1150 p.R384W 0.917 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSG HGNC ENSG00000141337 119 1 0.833333 68 19 21.8391 BTBD17 0 genome.wustl.edu 37 17 72356145 72356145 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 72356145 72356145 G T SNP BTBD17 ENST00000375366 human ensembl 74_37 -1 known missense c.325 p.P109T 0.444 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD17 HGNC ENSG00000204347 105 0 0 76 6 7.31707 CD300LB 0 genome.wustl.edu 37 17 72521981 72521981 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 72521981 72521981 C A SNP CD300LB ENST00000392621 human ensembl 74_37 -1 known missense c.387 p.E129D 0.001 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300LB HGNC ENSG00000178789 253 0 0 140 50 26.3158 SLC25A19 0 genome.wustl.edu 37 17 73274291 73274291 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 73274291 73274291 G A SNP SLC25A19 ENST00000320362 human ensembl 74_37 -1 known silent c.585 p.C195 0.245 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A19 HGNC ENSG00000125454 296 0 0 169 57 25.2212 ITGB4 0 genome.wustl.edu 37 17 73727940 73727940 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 73727940 73727940 G A SNP ITGB4 ENST00000200181 human ensembl 74_37 +1 known silent c.1263 p.T421 0.000 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 32 0 0 19 4 17.3913 EVPL 0 genome.wustl.edu 37 17 74013833 74013833 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 74013833 74013833 A G SNP EVPL ENST00000301607 human ensembl 74_37 -1 known missense c.1697 p.I566T 0.900 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 115 0 0 61 20 24.6914 SRP68 0 genome.wustl.edu 37 17 74060139 74060139 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 74060139 74060139 C T SNP SRP68 ENST00000307877 human ensembl 74_37 -1 known missense c.479 p.R160H 1.000 NULL NULL - no_errors SRP68 HGNC ENSG00000167881 173 0 0 103 33 24.2647 UBE2O 0 genome.wustl.edu 37 17 74394386 74394386 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 74394386 74394386 C T SNP UBE2O ENST00000319380 human ensembl 74_37 -1 known missense c.1975 p.V659I 0.999 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2O HGNC ENSG00000175931 373 1 0.26738 274 18 6.16438 JMJD6 0 genome.wustl.edu 37 17 74721697 74721697 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 74721697 74721697 T C SNP JMJD6 ENST00000445478 human ensembl 74_37 -1 known missense c.370 p.T124A 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD6 HGNC ENSG00000070495 159 0 0 128 14 9.85915 MGAT5B 0 genome.wustl.edu 37 17 74928844 74928844 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 74928844 74928844 C T SNP MGAT5B ENST00000428789 human ensembl 74_37 +1 known missense c.1442 p.A481V 1.000 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MGAT5B HGNC ENSG00000167889 96 0 0 61 21 25.6098 MGAT5B 0 genome.wustl.edu 37 17 74936520 74936520 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 74936520 74936520 G A SNP MGAT5B ENST00000428789 human ensembl 74_37 +1 known missense c.1648 p.A550T 1.000 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MGAT5B HGNC ENSG00000167889 212 0 0 84 25 22.9358 DNAH17 0 genome.wustl.edu 37 17 76490824 76490824 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 76490824 76490824 G A SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.6079 p.R2027W 0.924 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 62 0 0 49 7 12.5 DNAH17 0 genome.wustl.edu 37 17 76491055 76491055 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 76491055 76491055 G T SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.5986 p.L1996M 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 33 0 0 19 10 34.4828 ENGASE 0 genome.wustl.edu 37 17 77079993 77079993 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 77079993 77079993 C T SNP ENGASE ENST00000579016 human ensembl 74_37 +1 known missense c.1402 p.R468W 0.935 NULL pfam_Glyco_hydro_85,pfscan_BRCT_dom - no_errors ENGASE HGNC ENSG00000167280 50 0 0 24 8 25 ENPP7 0 genome.wustl.edu 37 17 77708929 77708929 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 77708929 77708929 G A SNP ENPP7 ENST00000328313 human ensembl 74_37 +1 known missense c.487 p.A163T 0.000 pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core - no_errors ENPP7 HGNC ENSG00000182156 102 0 0 56 15 21.1268 CARD14 0 genome.wustl.edu 37 17 78169019 78169019 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 78169019 78169019 G A SNP CARD14 ENST00000575500 human ensembl 74_37 +1 known missense c.1318 p.V440I 0.035 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD14 HGNC ENSG00000141527 98 0 0 44 23 34.3284 CARD14 0 genome.wustl.edu 37 17 78169064 78169064 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 78169064 78169064 G A SNP CARD14 ENST00000575500 human ensembl 74_37 +1 known missense c.1363 p.A455T 0.531 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD14 HGNC ENSG00000141527 63 0 0 28 13 31.7073 RNF213 0 genome.wustl.edu 37 17 78313946 78313946 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 78313946 78313946 G A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.5779 p.V1927I 0.984 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 72 0 0 35 11 23.913 AATK 0 genome.wustl.edu 37 17 79108231 79108231 + Silent SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 79108231 79108231 G T SNP AATK ENST00000326724 human ensembl 74_37 -1 known silent c.126 p.L42 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AATK HGNC ENSG00000181409 60 0 0 21 9 30 RAC3 0 genome.wustl.edu 37 17 79991327 79991327 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 79991327 79991327 G T SNP RAC3 ENST00000306897 human ensembl 74_37 +1 known missense c.300 p.E100D 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAC3 HGNC ENSG00000169750 25 0 0 21 9 30 NARF 0 genome.wustl.edu 37 17 80426665 80426665 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 80426665 80426665 T C SNP NARF ENST00000309794 human ensembl 74_37 +1 known missense c.278 p.V93A 1.000 pfam_Fe_hydrogenase_lsu_C,superfamily_Fe_hydrogenase pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARF HGNC ENSG00000141562 120 0 0 70 11 13.5802 CCDC42 0 genome.wustl.edu 37 17 8638559 8638559 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 8638559 8638559 G A SNP CCDC42 ENST00000293845 human ensembl 74_37 -1 known missense c.728 p.A243V 0.982 NULL NULL - no_errors CCDC42 HGNC ENSG00000161973 79 0 0 8 17 68 CEP192 0 genome.wustl.edu 37 18 13049657 13049657 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 13049657 13049657 G A SNP CEP192 ENST00000506447 human ensembl 74_37 +1 known missense c.2867 p.R956H 0.000 NULL NULL - no_errors CEP192 HGNC ENSG00000101639 117 0 0 18 20 52.6316 POTEC 0 genome.wustl.edu 37 18 14534979 14534979 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 14534979 14534979 C T SNP POTEC ENST00000358970 human ensembl 74_37 -1 known missense c.838 p.V280I 0.000 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 POTEC HGNC ENSG00000183206 88 0 0 33 8 19.5122 USP14 0 genome.wustl.edu 37 18 196733 196733 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 196733 196733 C T SNP USP14 ENST00000261601 human ensembl 74_37 +1 known missense c.560 p.A187V 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,smart_Ubiquitin_dom,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP14 HGNC ENSG00000101557 141 0 0 86 26 23.2143 LAMA3 0 genome.wustl.edu 37 18 21441734 21441734 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 21441734 21441734 C T SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known missense c.4547 p.A1516V 0.007 superfamily_Growth_fac_rcpt_N_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,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 LAMA3 HGNC ENSG00000053747 44 0 0 12 6 33.3333 ZNF521 0 genome.wustl.edu 37 18 22805650 22805650 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 22805650 22805650 C A SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.2232 p.K744N 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 97 0 0 21 13 38.2353 ZNF521 0 genome.wustl.edu 37 18 22807108 22807108 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 22807108 22807108 C T SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known silent c.774 p.P258 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 140 0 0 58 22 27.5 DSC1 0 genome.wustl.edu 37 18 28728576 28728576 + Silent SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 28728576 28728576 G T SNP DSC1 ENST00000257198 human ensembl 74_37 -1 known silent c.657 p.G219 0.961 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_pro_dom,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin/Desmocollin,prints_Cadherin,prints_Desmosomal_cadherin - no_errors DSC1 HGNC ENSG00000134765 132 0 0 43 21 32.8125 LOC101927698 0 genome.wustl.edu 37 18 28742587 28742587 + RNA SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 28742587 28742587 G T SNP LOC101927698 ENST00000581836 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-408H20.2 Clone_based_vega_gene ENSG00000265888 70 0 0 25 19 43.1818 DSG3 0 genome.wustl.edu 37 18 29038476 29038476 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 29038476 29038476 G A SNP DSG3 ENST00000257189 human ensembl 74_37 +1 known silent c.285 p.P95 0.858 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG3 HGNC ENSG00000134757 88 0 0 32 23 41.8182 DSG2 0 genome.wustl.edu 37 18 29121196 29121196 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 29121196 29121196 C T SNP DSG2 ENST00000261590 human ensembl 74_37 +1 known silent c.1920 p.G640 0.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG2 HGNC ENSG00000046604 96 0 0 37 20 35.0877 ASXL3 0 genome.wustl.edu 37 18 31323069 31323069 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 31323069 31323069 C T SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.3257 p.A1086V 0.966 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 100 0 0 29 11 27.5 MOCOS 0 genome.wustl.edu 37 18 33779654 33779654 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 33779654 33779654 C T SNP MOCOS ENST00000261326 human ensembl 74_37 +1 known missense c.308 p.A103V 0.763 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,superfamily_Pyrv_Knase-like_insert_dom - no_errors MOCOS HGNC ENSG00000075643 179 0 0 59 33 35.8696 FHOD3 0 genome.wustl.edu 37 18 34310607 34310607 + Splice_Site SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 34310607 34310607 A C SNP FHOD3 ENST00000257209 human ensembl 74_37 +1 known splice_site c.2893-2 e17-2 1.000 - - - no_errors FHOD3 HGNC ENSG00000134775 109 0 0 33 16 32.6531 SETBP1 0 genome.wustl.edu 37 18 42281510 42281510 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 42281510 42281510 C T SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.199 p.R67W 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 99 0 0 29 15 34.0909 TCEB3B 0 genome.wustl.edu 37 18 44560944 44560944 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 44560944 44560944 C T SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known missense c.692 p.R231H 0.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 56 0 0 19 9 32.1429 SMAD7 0 genome.wustl.edu 37 18 46448237 46448237 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 46448237 46448237 G A SNP SMAD7 ENST00000262158 human ensembl 74_37 -1 known silent c.786 p.C262 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD7 HGNC ENSG00000101665 95 0 0 43 3 6.52174 CCDC68 0 genome.wustl.edu 37 18 52585165 52585165 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 52585165 52585165 C A SNP CCDC68 ENST00000337363 human ensembl 74_37 -1 known missense c.852 p.K284N 0.951 superfamily_Prefoldin superfamily_Prefoldin - no_errors CCDC68 HGNC ENSG00000166510 31 0 0 10 5 33.3333 TCF4 0 genome.wustl.edu 37 18 52896180 52896180 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 52896180 52896180 G A SNP TCF4 ENST00000398339 human ensembl 74_37 -1 known missense c.2083 p.R695C 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF4 HGNC ENSG00000196628 174 0 0 58 33 36.2637 ONECUT2 0 genome.wustl.edu 37 18 55103500 55103500 + Missense_Mutation SNP C C G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 55103500 55103500 C G SNP ONECUT2 ENST00000491143 human ensembl 74_37 +1 known missense c.552 p.H184Q 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors ONECUT2 HGNC ENSG00000119547 30 0 0 10 4 28.5714 FECH 0 genome.wustl.edu 37 18 55222129 55222129 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 55222129 55222129 A C SNP FECH ENST00000382873 human ensembl 74_37 -1 known missense c.878 p.V293G 1.000 pfam_Ferrochelatase,tigrfam_Ferrochelatase pfam_Ferrochelatase,tigrfam_Ferrochelatase - no_errors FECH HGNC ENSG00000066926 136 0 0 52 23 30.6667 FECH 0 genome.wustl.edu 37 18 55238753 55238753 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 55238753 55238753 C T SNP FECH ENST00000382873 human ensembl 74_37 -1 known missense c.352 p.A118T 1.000 pfam_Ferrochelatase,tigrfam_Ferrochelatase pfam_Ferrochelatase,tigrfam_Ferrochelatase - no_errors FECH HGNC ENSG00000066926 150 0 0 64 22 25.5814 KIAA1468 0 genome.wustl.edu 37 18 59949640 59949640 + Missense_Mutation SNP A A T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 59949640 59949640 A T SNP KIAA1468 ENST00000256858 human ensembl 74_37 +1 known missense c.3318 p.R1106S 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation - no_errors KIAA1468 HGNC ENSG00000134444 176 0 0 50 43 46.2366 BCL2 0 genome.wustl.edu 37 18 60985894 60985894 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 60985894 60985894 C T SNP BCL2 ENST00000333681 human ensembl 74_37 -1 known silent c.6 p.A2 1.000 prints_Apop_reg_Bcl2,tigrfam_Bcl2/BclX pfam_Blc2_fam,pfam_Bcl2_BH4,smart_Bcl2_BH4,pfscan_Bcl2-like,pfscan_Bcl2_BH4,prints_Apop_reg_Bcl2,prints_Blc2_fam,prints_Apop_reg_BclX,tigrfam_Bcl2/BclX - no_errors BCL2 HGNC ENSG00000171791 142 0 0 68 5 6.84932 SERPINB2 0 genome.wustl.edu 37 18 61562569 61562569 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 61562569 61562569 G A SNP SERPINB2 ENST00000299502 human ensembl 74_37 +1 known silent c.240 p.G80 0.002 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB2 HGNC ENSG00000197632 207 0 0 108 17 13.6 ZNF407 0 genome.wustl.edu 37 18 72345280 72345280 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 72345280 72345280 T G SNP ZNF407 ENST00000299687 human ensembl 74_37 +1 known missense c.2305 p.L769V 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 99 0 0 66 7 9.58904 ZNF516 0 genome.wustl.edu 37 18 74091004 74091004 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 74091004 74091004 G A SNP ZNF516 ENST00000443185 human ensembl 74_37 -1 known silent c.3066 p.G1022 0.002 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF516 HGNC ENSG00000101493 56 0 0 29 6 17.1429 ZNF236 0 genome.wustl.edu 37 18 74632003 74632003 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 74632003 74632003 C T SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known silent c.3540 p.S1180 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 37 0 0 20 6 23.0769 ZNF236 0 genome.wustl.edu 37 18 74680287 74680287 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 74680287 74680287 G A SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known missense c.5530 p.V1844I 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 134 0 0 59 28 32.1839 GALR1 0 genome.wustl.edu 37 18 74962929 74962929 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 74962929 74962929 G A SNP GALR1 ENST00000299727 human ensembl 74_37 +1 known missense c.425 p.R142H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GAL1_rcpt,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_NPY_rcpt - no_errors GALR1 HGNC ENSG00000166573 79 0 0 42 10 19.2308 SALL3 0 genome.wustl.edu 37 18 76752132 76752132 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 76752132 76752132 C T SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known silent c.141 p.G47 0.843 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 33 0 0 16 4 20 ATP9B 0 genome.wustl.edu 37 18 77089290 77089290 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 77089290 77089290 C T SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known silent c.1923 p.G641 0.041 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9B HGNC ENSG00000166377 172 0 0 118 19 13.8686 ILF3 0 genome.wustl.edu 37 19 10791720 10791720 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 10791720 10791720 G A SNP ILF3 ENST00000449870 human ensembl 74_37 +1 known missense c.983 p.G328D 1.000 pfam_DZF,smart_DZF pfam_DZF,pfam_dsRNA-bd_dom,smart_DZF,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors ILF3 HGNC ENSG00000129351 126 0 0 53 23 30.2632 TSPAN16 0 genome.wustl.edu 37 19 11417320 11417320 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 11417320 11417320 G A SNP TSPAN16 ENST00000316737 human ensembl 74_37 +1 known missense c.491 p.G164D 0.559 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN16 HGNC ENSG00000130167 118 0 0 39 17 30.3571 CCDC151 0 genome.wustl.edu 37 19 11541544 11541544 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 11541544 11541544 G T SNP CCDC151 ENST00000356392 human ensembl 74_37 -1 known missense c.419 p.P140Q 0.717 NULL NULL - no_errors CCDC151 HGNC ENSG00000198003 178 1 0.558659 61 34 35.7895 ELAVL3 0 genome.wustl.edu 37 19 11569311 11569311 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 11569311 11569311 C T SNP ELAVL3 ENST00000359227 human ensembl 74_37 -1 known missense c.449 p.R150H 0.984 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL3 HGNC ENSG00000196361 174 1 0.571429 76 5 6.17284 ZNF878 0 genome.wustl.edu 37 19 12155668 12155668 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 12155668 12155668 G T SNP ZNF878 ENST00000602107 human ensembl 74_37 -1 known missense c.689 p.P230H 0.000 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 ZNF878 HGNC ENSG00000257446 325 0 0 112 43 27.7419 TNPO2 0 genome.wustl.edu 37 19 12830079 12830079 + Silent SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 12830079 12830079 T C SNP TNPO2 ENST00000425528 human ensembl 74_37 -1 known silent c.171 p.S57 0.911 pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors TNPO2 HGNC ENSG00000105576 60 0 0 21 10 32.2581 BEST2 0 genome.wustl.edu 37 19 12867058 12867058 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 12867058 12867058 C A SNP BEST2 ENST00000042931 human ensembl 74_37 +1 known missense c.1052 p.T351N 1.000 NULL pfam_Bestrophin/UPF0187 - no_errors BEST2 HGNC ENSG00000039987 351 1 0.284091 150 28 15.7303 RAD23A 0 genome.wustl.edu 37 19 13059913 13059913 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 13059913 13059913 G A SNP RAD23A ENST00000586534 human ensembl 74_37 +1 known missense c.619 p.E207K 0.998 superfamily_UBA-like,tigrfam_Rad23 pfam_XPC-bd,pfam_UBA/Ts_N,pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin_dom,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,prints_Rad23,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,tigrfam_Rad23 - no_errors RAD23A HGNC ENSG00000179262 31 0 0 14 3 17.6471 MRI1 0 genome.wustl.edu 37 19 13879814 13879814 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 13879814 13879814 C T SNP MRI1 ENST00000040663 human ensembl 74_37 +1 known missense c.901 p.P301S 1.000 pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d - no_errors MRI1 HGNC ENSG00000037757 63 0 0 13 8 38.0952 OR1I1 0 genome.wustl.edu 37 19 15198348 15198348 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 15198348 15198348 A G SNP OR1I1 ENST00000209540 human ensembl 74_37 +1 known missense c.472 p.I158V 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1I1 HGNC ENSG00000094661 87 0 0 39 3 7.14286 ILVBL 0 genome.wustl.edu 37 19 15227320 15227320 + Silent SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 15227320 15227320 G T SNP ILVBL ENST00000263383 human ensembl 74_37 -1 known silent c.1200 p.S400 1.000 pfam_Thiamin_PyroP_enz_cen_dom pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom - no_errors ILVBL HGNC ENSG00000105135 93 0 0 28 12 30 NOTCH3 0 genome.wustl.edu 37 19 15273352 15273352 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 15273352 15273352 G A SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known missense c.5837 p.A1946V 1.000 pirsf_Notch,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 53 0 0 16 12 42.8571 AKAP8 0 genome.wustl.edu 37 19 15471735 15471735 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 15471735 15471735 C T SNP AKAP8 ENST00000269701 human ensembl 74_37 -1 known missense c.1451 p.C484Y 1.000 pfam_AKAP95 pfam_AKAP95 - no_errors AKAP8 HGNC ENSG00000105127 53 0 0 13 9 40.9091 CALR3 0 genome.wustl.edu 37 19 16593573 16593573 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 16593573 16593573 G A SNP CALR3 ENST00000269881 human ensembl 74_37 -1 known silent c.702 p.D234 0.947 pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,pirsf_Calreticulin,prints_Calret/calnex pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,pirsf_Calreticulin,prints_Calret/calnex - no_errors CALR3 HGNC ENSG00000269058 54 0 0 15 7 31.8182 SLC35E1 0 genome.wustl.edu 37 19 16664448 16664448 + RNA SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 16664448 16664448 C T SNP SLC35E1 ENST00000600356 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors SLC35E1 HGNC ENSG00000127526 126 0 0 40 22 35.4839 MYO9B 0 genome.wustl.edu 37 19 17317068 17317068 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 17317068 17317068 G A SNP MYO9B ENST00000594824 human ensembl 74_37 +1 known missense c.5269 p.V1757I 0.999 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 15 0 0 5 6 54.5455 USE1 0 genome.wustl.edu 37 19 17330465 17330465 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 17330465 17330465 C T SNP USE1 ENST00000263897 human ensembl 74_37 +1 known missense c.623 p.A208V 1.000 pfam_Vesicle_transport_protein_Use1 pfam_Vesicle_transport_protein_Use1 - no_errors USE1 HGNC ENSG00000053501 76 0 0 20 13 39.3939 JUND 0 genome.wustl.edu 37 19 18391865 18391865 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 18391865 18391865 G T SNP JUND ENST00000252818 human ensembl 74_37 -1 known missense c.430 p.L144M 0.985 pfam_JNK pfam_JNK,pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUND HGNC ENSG00000130522 39 0 0 9 10 52.6316 CILP2 0 genome.wustl.edu 37 19 19653320 19653320 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 19653320 19653320 C T SNP CILP2 ENST00000291495 human ensembl 74_37 +1 known silent c.729 p.H243 0.001 superfamily_CarboxyPept-like_regulatory pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP2 HGNC ENSG00000160161 78 0 0 22 11 33.3333 GMIP 0 genome.wustl.edu 37 19 19746286 19746286 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 19746286 19746286 G A SNP GMIP ENST00000203556 human ensembl 74_37 -1 known missense c.1498 p.R500W 1.000 smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors GMIP HGNC ENSG00000089639 107 0 0 33 21 38.8889 ZNF43 0 genome.wustl.edu 37 19 21991483 21991483 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 21991483 21991483 T G SNP ZNF43 ENST00000354959 human ensembl 74_37 -1 known missense c.1356 p.K452N 0.967 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 ZNF43 HGNC ENSG00000198521 75 0 0 31 10 24.3902 LOC100132815 0 genome.wustl.edu 37 19 23437998 23437998 + RNA SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 23437998 23437998 G T SNP LOC100132815 ENST00000593576 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-15H20.5 Clone_based_vega_gene ENSG00000269837 38 0 0 19 4 17.3913 ZNF675 0 genome.wustl.edu 37 19 23836033 23836033 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 23836033 23836033 C T SNP ZNF675 ENST00000359788 human ensembl 74_37 -1 known missense c.1702 p.V568M 0.020 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 ZNF675 HGNC ENSG00000197372 51 0 0 34 4 10.5263 PPAP2C 0 genome.wustl.edu 37 19 282753 282753 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 282753 282753 G A SNP PPAP2C ENST00000327790 human ensembl 74_37 -1 known missense c.602 p.A201V 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAP2C HGNC ENSG00000141934 70 0 0 41 3 6.81818 ZNF536 0 genome.wustl.edu 37 19 30935034 30935034 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 30935034 30935034 C T SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.565 p.R189C 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 30 0 0 10 5 33.3333 GNA15 0 genome.wustl.edu 37 19 3157794 3157794 + Silent SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 3157794 3157794 C A SNP GNA15 ENST00000262958 human ensembl 74_37 +1 known silent c.813 p.S271 0.089 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_Q pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q - no_errors GNA15 HGNC ENSG00000060558 241 0 0 82 34 29.3103 CELF5 0 genome.wustl.edu 37 19 3273874 3273874 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 3273874 3273874 C T SNP CELF5 ENST00000292672 human ensembl 74_37 +1 known missense c.347 p.A116V 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF5 HGNC ENSG00000161082 180 0 0 57 35 38.0435 NUDT19 0 genome.wustl.edu 37 19 33202775 33202775 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 33202775 33202775 G A SNP NUDT19 ENST00000397061 human ensembl 74_37 +1 known missense c.1040 p.R347H 0.000 NULL pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT19 HGNC ENSG00000213965 153 1 0.649351 63 23 26.7442 SLC7A9 0 genome.wustl.edu 37 19 33355008 33355008 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 33355008 33355008 C T SNP SLC7A9 ENST00000023064 human ensembl 74_37 -1 known missense c.472 p.A158T 0.985 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A9 HGNC ENSG00000021488 103 0 0 25 12 32.4324 LSR 0 genome.wustl.edu 37 19 35741297 35741297 + Silent SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 35741297 35741297 T C SNP LSR ENST00000361790 human ensembl 74_37 +1 known silent c.333 p.C111 0.996 smart_Ig_sub,pfscan_Ig-like_dom pfam_LISCH7,smart_Ig_sub,pfscan_Ig-like_dom - no_errors LSR HGNC ENSG00000105699 461 0 0 158 77 32.766 TBXA2R 0 genome.wustl.edu 37 19 3600069 3600069 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 3600069 3600069 G A SNP TBXA2R ENST00000411851 human ensembl 74_37 -1 known silent c.564 p.G188 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn - no_errors TBXA2R HGNC ENSG00000006638 51 0 0 27 6 18.1818 ATP4A 0 genome.wustl.edu 37 19 36050835 36050835 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 36050835 36050835 C T SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known missense c.928 p.A310T 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP4A HGNC ENSG00000105675 170 0 0 63 26 29.2135 ATP4A 0 genome.wustl.edu 37 19 36051332 36051332 + Silent SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 36051332 36051332 G T SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known silent c.720 p.P240 0.153 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP4A HGNC ENSG00000105675 134 0 0 41 22 34.9206 NPHS1 0 genome.wustl.edu 37 19 36340027 36340027 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 36340027 36340027 G A SNP NPHS1 ENST00000378910 human ensembl 74_37 -1 known missense c.863 p.A288V 0.181 pfam_CD80_C2-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NPHS1 HGNC ENSG00000161270 81 0 0 30 28 48.2759 CLIP3 0 genome.wustl.edu 37 19 36508818 36508818 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 36508818 36508818 T C SNP CLIP3 ENST00000360535 human ensembl 74_37 -1 known missense c.1259 p.D420G 1.000 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP3 HGNC ENSG00000105270 144 0 0 45 17 27.4194 THAP8 0 genome.wustl.edu 37 19 36530914 36530914 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 36530914 36530914 G A SNP THAP8 ENST00000292894 human ensembl 74_37 -1 known missense c.208 p.R70C 1.000 pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP8 HGNC ENSG00000161277 81 0 0 32 11 25.5814 WDR62 0 genome.wustl.edu 37 19 36595895 36595895 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 36595895 36595895 G T SNP WDR62 ENST00000401500 human ensembl 74_37 +1 known missense c.4537 p.V1513L 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR62 HGNC ENSG00000075702 12 0 0 4 7 63.6364 MATK 0 genome.wustl.edu 37 19 3779046 3779046 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 3779046 3779046 G A SNP MATK ENST00000395045 human ensembl 74_37 -1 known silent c.1144 p.L382 0.037 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors MATK HGNC ENSG00000007264 50 0 0 23 11 32.3529 ZNF570 0 genome.wustl.edu 37 19 37975340 37975340 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 37975340 37975340 A C SNP ZNF570 ENST00000330173 human ensembl 74_37 +1 known missense c.816 p.K272N 0.996 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 ZNF570 HGNC ENSG00000171827 123 0 0 40 32 44.4444 GGN 0 genome.wustl.edu 37 19 38876629 38876629 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 38876629 38876629 C T SNP GGN ENST00000334928 human ensembl 74_37 -1 known missense c.1273 p.E425K 0.839 NULL NULL - no_errors GGN HGNC ENSG00000179168 32 0 0 8 7 46.6667 LGALS7 0 genome.wustl.edu 37 19 39262575 39262575 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 39262575 39262575 C T SNP LGALS7 ENST00000378626 human ensembl 74_37 -1 known missense c.191 p.S64N 0.164 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS7 HGNC ENSG00000205076 61 0 0 32 3 8.57143 PAK4 0 genome.wustl.edu 37 19 39667317 39667317 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 39667317 39667317 G A SNP PAK4 ENST00000358301 human ensembl 74_37 +1 known missense c.1447 p.A483T 1.000 pfam_Prot_kinase_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_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK4 HGNC ENSG00000130669 276 0 0 73 50 40.6504 EEF2 0 genome.wustl.edu 37 19 3982369 3982369 + Silent SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 3982369 3982369 G T SNP EEF2 ENST00000309311 human ensembl 74_37 -1 known silent c.666 p.A222 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC ENSG00000167658 130 0 0 48 32 40 SUPT5H 0 genome.wustl.edu 37 19 39957172 39957172 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 39957172 39957172 G A SNP SUPT5H ENST00000432763 human ensembl 74_37 +1 known missense c.929 p.R310H 1.000 pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N_dom,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 92 0 0 51 24 32 SPTBN4 0 genome.wustl.edu 37 19 41075621 41075621 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 41075621 41075621 C A SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.7015 p.L2339M 0.997 pirsf_Spectrin_bsu pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 62 0 0 17 8 32 NUMBL 0 genome.wustl.edu 37 19 41188661 41188661 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 41188661 41188661 C A SNP NUMBL ENST00000252891 human ensembl 74_37 -1 known missense c.371 p.G124V 1.000 pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom - no_errors NUMBL HGNC ENSG00000105245 121 0 0 31 14 31.1111 ATP1A3 0 genome.wustl.edu 37 19 42473622 42473622 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 42473622 42473622 C T SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known missense c.2653 p.V885I 0.474 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A3 HGNC ENSG00000105409 232 0 0 70 38 35.1852 CIC 0 genome.wustl.edu 37 19 42793486 42793486 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 42793486 42793486 G A SNP CIC ENST00000575354 human ensembl 74_37 +1 known missense c.1288 p.A430T 0.996 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 40 0 0 24 5 17.2414 MEGF8 0 genome.wustl.edu 37 19 42830410 42830410 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 42830410 42830410 G T SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known missense c.15 p.K5N 0.188 NULL pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 48 0 0 16 9 36 PSG3 0 genome.wustl.edu 37 19 43243121 43243121 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 43243121 43243121 A G SNP PSG3 ENST00000327495 human ensembl 74_37 -1 known missense c.185 p.L62P 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG3 HGNC ENSG00000221826 349 0 0 124 69 35.7513 PSG3 0 genome.wustl.edu 37 19 43243165 43243165 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 43243165 43243165 C A SNP PSG3 ENST00000327495 human ensembl 74_37 -1 known missense c.141 p.K47N 0.001 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG3 HGNC ENSG00000221826 312 0 0 114 41 26.4516 CHAF1A 0 genome.wustl.edu 37 19 4422704 4422704 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 4422704 4422704 C T SNP CHAF1A ENST00000301280 human ensembl 74_37 +1 known missense c.1159 p.R387W 0.998 NULL pfam_CAF1A - no_errors CHAF1A HGNC ENSG00000167670 45 0 0 14 8 36.3636 PLIN4 0 genome.wustl.edu 37 19 4510469 4510469 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 4510469 4510469 G A SNP PLIN4 ENST00000301286 human ensembl 74_37 -1 novel missense c.3461 p.A1154V 0.000 pfam_Perilipin pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 54 0 0 14 5 26.3158 SEMA6B 0 genome.wustl.edu 37 19 4550834 4550834 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 4550834 4550834 C T SNP SEMA6B ENST00000301293 human ensembl 74_37 -1 known silent c.1098 p.P366 0.013 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom - no_errors SEMA6B HGNC ENSG00000167680 123 0 0 19 41 68.3333 RELB 0 genome.wustl.edu 37 19 45515423 45515423 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 45515423 45515423 G A SNP RELB ENST00000221452 human ensembl 74_37 +1 known silent c.393 p.E131 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD,prints_NF_Rel_Dor pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors RELB HGNC ENSG00000104856 42 0 0 14 8 36.3636 MARK4 0 genome.wustl.edu 37 19 45805817 45805817 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 45805817 45805817 C T SNP MARK4 ENST00000262891 human ensembl 74_37 +1 known missense c.2108 p.A703V 1.000 superfamily_KA1/Ssp2_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors MARK4 HGNC ENSG00000007047 35 0 0 5 11 68.75 QPCTL 0 genome.wustl.edu 37 19 46206208 46206208 + Nonsense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 46206208 46206208 G A SNP QPCTL ENST00000012049 human ensembl 74_37 +1 known nonsense c.1050 p.W350* 1.000 pfam_Peptidase_M28 pfam_Peptidase_M28 - no_errors QPCTL HGNC ENSG00000011478 205 0 0 54 37 40.6593 SLC8A2 0 genome.wustl.edu 37 19 47933560 47933560 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 47933560 47933560 C T SNP SLC8A2 ENST00000236877 human ensembl 74_37 -1 known missense c.2552 p.R851H 1.000 pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A2 HGNC ENSG00000118160 35 0 0 15 4 21.0526 FAM83E 0 genome.wustl.edu 37 19 49113248 49113248 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 49113248 49113248 C T SNP FAM83E ENST00000263266 human ensembl 74_37 -1 known missense c.643 p.V215I 0.204 pfam_DUF1669 pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase - no_errors FAM83E HGNC ENSG00000105523 52 0 0 14 6 30 BCAT2 0 genome.wustl.edu 37 19 49303509 49303509 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 49303509 49303509 G A SNP BCAT2 ENST00000316273 human ensembl 74_37 -1 known missense c.346 p.R116C 1.000 superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII - no_errors BCAT2 HGNC ENSG00000105552 89 0 0 26 15 36.5854 PPFIA3 0 genome.wustl.edu 37 19 49651343 49651343 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 49651343 49651343 C T SNP PPFIA3 ENST00000334186 human ensembl 74_37 +1 known silent c.2839 p.L947 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 134 0 0 42 21 33.3333 HRC 0 genome.wustl.edu 37 19 49657832 49657832 + Silent SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 49657832 49657832 A G SNP HRC ENST00000252825 human ensembl 74_37 -1 known silent c.663 p.S221 0.002 pfam_Hist_rich_Ca-bd pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 54 0 0 13 9 40.9091 ALDH16A1 0 genome.wustl.edu 37 19 49973636 49973636 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 49973636 49973636 C T SNP ALDH16A1 ENST00000293350 human ensembl 74_37 +1 known missense c.2321 p.A774V 1.000 pirsf_Aldehyde_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH - no_errors ALDH16A1 HGNC ENSG00000161618 95 0 0 26 20 43.4783 PRRG2 0 genome.wustl.edu 37 19 50086849 50086849 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 50086849 50086849 C T SNP PRRG2 ENST00000246794 human ensembl 74_37 +1 known missense c.136 p.R46W 0.104 smart_GLA_domain pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG2 HGNC ENSG00000126460 335 1 0.297619 90 47 34.3066 CPT1C 0 genome.wustl.edu 37 19 50209247 50209247 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 50209247 50209247 G A SNP CPT1C ENST00000323446 human ensembl 74_37 +1 known missense c.1046 p.R349Q 0.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1C HGNC ENSG00000169169 119 0 0 50 25 33.3333 FAM71E1 0 genome.wustl.edu 37 19 50971041 50971041 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 50971041 50971041 G A SNP FAM71E1 ENST00000600100 human ensembl 74_37 -1 known silent c.585 p.S195 0.073 pfam_DUF3699 pfam_DUF3699 - no_errors FAM71E1 HGNC ENSG00000142530 33 0 0 4 16 80 SHANK1 0 genome.wustl.edu 37 19 51170839 51170839 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 51170839 51170839 G A SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known silent c.4402 p.L1468 0.047 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 10 0 0 6 4 40 KLK4 0 genome.wustl.edu 37 19 51411835 51411835 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 51411835 51411835 C T SNP KLK4 ENST00000324041 human ensembl 74_37 -1 known missense c.475 p.G159S 0.225 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK4 HGNC ENSG00000167749 117 0 0 12 49 80.3279 SIGLEC8 0 genome.wustl.edu 37 19 51957485 51957485 + Silent SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 51957485 51957485 G T SNP SIGLEC8 ENST00000321424 human ensembl 74_37 -1 known silent c.1233 p.G411 0.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC8 HGNC ENSG00000105366 162 0 0 59 31 34.4444 SIGLEC12 0 genome.wustl.edu 37 19 52001485 52001485 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 52001485 52001485 G A SNP SIGLEC12 ENST00000291707 human ensembl 74_37 -1 known missense c.1192 p.H398Y 0.219 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC12 HGNC ENSG00000254521 73 0 0 31 3 8.82353 PTPRS 0 genome.wustl.edu 37 19 5214614 5214614 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 5214614 5214614 C T SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known silent c.4455 p.S1485 0.002 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 58 0 0 18 8 30.7692 PTPRS 0 genome.wustl.edu 37 19 5218520 5218520 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 5218520 5218520 C T SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.3962 p.R1321H 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 299 0 0 95 57 37.5 ZNF836 0 genome.wustl.edu 37 19 52663747 52663747 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 52663747 52663747 A G SNP ZNF836 ENST00000322146 human ensembl 74_37 -1 known missense c.113 p.L38S 0.991 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF836 HGNC ENSG00000196267 152 0 0 68 22 24.4444 ZNF347 0 genome.wustl.edu 37 19 53644716 53644716 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 53644716 53644716 C A SNP ZNF347 ENST00000452676 human ensembl 74_37 -1 known missense c.1368 p.K456N 0.961 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 ZNF347 HGNC ENSG00000197937 189 0 0 66 39 37.1429 ZNF677 0 genome.wustl.edu 37 19 53754801 53754801 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 53754801 53754801 C A SNP ZNF677 ENST00000333952 human ensembl 74_37 -1 known missense c.3 p.M1I 0.692 superfamily_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF677 HGNC ENSG00000197928 74 0 0 27 14 34.1463 LENG8 0 genome.wustl.edu 37 19 54967828 54967828 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 54967828 54967828 C A SNP LENG8 ENST00000326764 human ensembl 74_37 +1 known missense c.1459 p.P487T 0.184 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors LENG8 HGNC ENSG00000167615 39 0 0 5 3 37.5 FCAR 0 genome.wustl.edu 37 19 55399671 55399671 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 55399671 55399671 G A SNP FCAR ENST00000469767 human ensembl 74_37 +1 known missense c.659 p.R220H 0.000 NULL smart_Ig_sub - no_errors FCAR HGNC ENSG00000186431 30 0 0 14 7 33.3333 RDH13 0 genome.wustl.edu 37 19 55556513 55556513 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 55556513 55556513 G T SNP RDH13 ENST00000415061 human ensembl 74_37 -1 known missense c.925 p.L309I 1.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH13 HGNC ENSG00000160439 107 0 0 30 24 44.4444 HSPBP1 0 genome.wustl.edu 37 19 55777295 55777295 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 55777295 55777295 C A SNP HSPBP1 ENST00000255631 human ensembl 74_37 -1 known missense c.852 p.E284D 0.916 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HSPBP1 HGNC ENSG00000133265 22 0 0 9 4 30.7692 NLRP5 0 genome.wustl.edu 37 19 56565026 56565026 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 56565026 56565026 G A SNP NLRP5 ENST00000390649 human ensembl 74_37 +1 known missense c.3151 p.A1051T 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP5 HGNC ENSG00000171487 53 0 0 21 6 22.2222 ZFP28 0 genome.wustl.edu 37 19 57066645 57066645 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 57066645 57066645 C T SNP ZFP28 ENST00000301318 human ensembl 74_37 +1 known missense c.2491 p.H831Y 0.998 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 ZFP28 HGNC ENSG00000196867 342 0 0 142 18 11.25 ZNF549 0 genome.wustl.edu 37 19 58050284 58050284 + Missense_Mutation SNP G G C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 58050284 58050284 G C SNP ZNF549 ENST00000376233 human ensembl 74_37 +1 known missense c.1912 p.E638Q 0.017 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 ZNF549 HGNC ENSG00000121406 121 0 0 55 30 35.2941 ZNF814 0 genome.wustl.edu 37 19 58385325 58385325 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 58385325 58385325 C A SNP ZNF814 ENST00000435989 human ensembl 74_37 -1 known missense c.1433 p.S478I 0.000 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 ZNF814 HGNC ENSG00000204514 58 0 0 26 9 25.7143 ZBTB45 0 genome.wustl.edu 37 19 59027824 59027824 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 59027824 59027824 C A SNP ZBTB45 ENST00000354590 human ensembl 74_37 -1 known missense c.1217 p.S406I 0.986 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB45 HGNC ENSG00000119574 90 0 0 26 14 35 ALKBH7 0 genome.wustl.edu 37 19 6374319 6374319 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 6374319 6374319 C T SNP ALKBH7 ENST00000245812 human ensembl 74_37 +1 known missense c.310 p.L104F 1.000 NULL NULL - no_errors ALKBH7 HGNC ENSG00000125652 101 0 0 36 22 37.931 TRIP10 0 genome.wustl.edu 37 19 6743586 6743586 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 6743586 6743586 G A SNP TRIP10 ENST00000313244 human ensembl 74_37 +1 known missense c.490 p.A164T 1.000 NULL pfam_FCH_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors TRIP10 HGNC ENSG00000125733 106 0 0 36 9 20 INSR 0 genome.wustl.edu 37 19 7170599 7170599 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 7170599 7170599 G A SNP INSR ENST00000302850 human ensembl 74_37 -1 known missense c.1432 p.R478C 0.995 pirsf_Tyr_kinase_insulin-like_rcpt pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSR HGNC ENSG00000171105 274 1 0.363636 92 58 38.6667 ZNF358 0 genome.wustl.edu 37 19 7584476 7584476 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 7584476 7584476 C T SNP ZNF358 ENST00000394341 human ensembl 74_37 +1 known silent c.348 p.G116 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF358 HGNC ENSG00000198816 166 0 0 52 38 42.2222 PNPLA6 0 genome.wustl.edu 37 19 7619850 7619850 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 7619850 7619850 C T SNP PNPLA6 ENST00000414982 human ensembl 74_37 +1 known silent c.2736 p.G912 0.925 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC ENSG00000032444 24 0 0 6 4 40 CLEC4M 0 genome.wustl.edu 37 19 7830088 7830088 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 7830088 7830088 G A SNP CLEC4M ENST00000327325 human ensembl 74_37 +1 known missense c.148 p.A50T 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4M HGNC ENSG00000104938 190 0 0 67 30 30.9278 RAB11B 0 genome.wustl.edu 37 19 8464780 8464780 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 8464780 8464780 G A SNP RAB11B ENST00000328024 human ensembl 74_37 +1 known missense c.74 p.S25N 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB11B HGNC ENSG00000185236 78 0 0 23 7 23.3333 RAB11B 0 genome.wustl.edu 37 19 8464795 8464795 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 8464795 8464795 G A SNP RAB11B ENST00000328024 human ensembl 74_37 +1 known missense c.89 p.R30H 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB11B HGNC ENSG00000185236 90 0 0 24 10 29.4118 PRAM1 0 genome.wustl.edu 37 19 8563987 8563987 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 8563987 8563987 G A SNP PRAM1 ENST00000423345 human ensembl 74_37 -1 known silent c.705 p.G235 0.001 NULL superfamily_SH3_domain - no_errors PRAM1 HGNC ENSG00000133246 73 0 0 33 19 36.5385 MUC16 0 genome.wustl.edu 37 19 9047057 9047057 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 9047057 9047057 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.34574 p.P11525H 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 109 0 0 39 27 40.9091 MUC16 0 genome.wustl.edu 37 19 9057555 9057555 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 9057555 9057555 C A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.29891 p.G9964V 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 423 0 0 49 123 71.5116 MUC16 0 genome.wustl.edu 37 19 9077612 9077612 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 9077612 9077612 C A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.9834 p.L3278F 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 219 0 0 70 28 28.5714 ZNF317 0 genome.wustl.edu 37 19 9271917 9271917 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 9271917 9271917 C T SNP ZNF317 ENST00000247956 human ensembl 74_37 +1 known silent c.1596 p.C532 0.062 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 ZNF317 HGNC ENSG00000130803 134 0 0 38 15 28.3019 ZNF699 0 genome.wustl.edu 37 19 9406577 9406577 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 9406577 9406577 C A SNP ZNF699 ENST00000308650 human ensembl 74_37 -1 known missense c.1503 p.K501N 0.998 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 ZNF699 HGNC ENSG00000196110 72 0 0 21 11 34.375 MRPS9 0 genome.wustl.edu 37 2 105713760 105713760 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 105713760 105713760 C T SNP MRPS9 ENST00000258455 human ensembl 74_37 +1 known silent c.1077 p.D359 0.000 pfam_Ribosomal_S9,superfamily_Ribosomal_S5_D2-typ_fold pfam_Ribosomal_S9,superfamily_Ribosomal_S5_D2-typ_fold - no_errors MRPS9 HGNC ENSG00000135972 63 0 0 41 3 6.81818 GPR45 0 genome.wustl.edu 37 2 105858511 105858511 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 105858511 105858511 C T SNP GPR45 ENST00000258456 human ensembl 74_37 +1 known missense c.196 p.R66C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR45 HGNC ENSG00000135973 234 0 0 114 47 29.1925 RGPD3 0 genome.wustl.edu 37 2 107050812 107050812 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 107050812 107050812 C T SNP RGPD3 ENST00000304514 human ensembl 74_37 -1 known missense c.2077 p.E693K 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 113 0 0 57 25 30.4878 PDIA6 0 genome.wustl.edu 37 2 10929969 10929969 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 10929969 10929969 G T SNP PDIA6 ENST00000381611 human ensembl 74_37 -1 known missense c.761 p.P254H 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase - no_errors PDIA6 HGNC ENSG00000143870 177 0 0 100 14 12.2807 EDAR 0 genome.wustl.edu 37 2 109513587 109513587 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 109513587 109513587 G A SNP EDAR ENST00000376651 human ensembl 74_37 -1 known missense c.1219 p.R407C 1.000 pfam_Death_domain,superfamily_DEATH-like_dom pfam_Death_domain,superfamily_DEATH-like_dom - no_errors EDAR HGNC ENSG00000135960 85 0 0 41 16 28.0702 ANAPC1 0 genome.wustl.edu 37 2 112545863 112545863 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 112545863 112545863 C T SNP ANAPC1 ENST00000341068 human ensembl 74_37 -1 known missense c.4747 p.A1583T 1.000 NULL NULL - no_errors ANAPC1 HGNC ENSG00000153107 55 0 0 31 5 13.8889 TMEM87B 0 genome.wustl.edu 37 2 112847268 112847268 + Silent SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 112847268 112847268 T G SNP TMEM87B ENST00000283206 human ensembl 74_37 +1 known silent c.1005 p.A335 0.001 pfam_TM_rcpt_euk pfam_TM_rcpt_euk - no_errors TMEM87B HGNC ENSG00000153214 152 0 0 88 33 27.2727 IL1A 0 genome.wustl.edu 37 2 113539199 113539199 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 113539199 113539199 C T SNP IL1A ENST00000263339 human ensembl 74_37 -1 known missense c.301 p.A101T 0.183 pfam_IL-1_propep pfam_IL-1_propep,pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1_alpha,prints_IL-1_alpha/beta,prints_IL-1 - no_errors IL1A HGNC ENSG00000115008 195 0 0 117 49 29.5181 FOXD4L1 0 genome.wustl.edu 37 2 114257989 114257989 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 114257989 114257989 C T SNP FOXD4L1 ENST00000306507 human ensembl 74_37 +1 known missense c.1156 p.R386C 0.067 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L1 HGNC ENSG00000184492 46 0 0 47 4 7.84314 GREB1 0 genome.wustl.edu 37 2 11750894 11750894 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 11750894 11750894 G A SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known missense c.2747 p.G916D 1.000 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 128 0 0 92 22 19.2982 GREB1 0 genome.wustl.edu 37 2 11759017 11759017 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 11759017 11759017 G A SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known missense c.4016 p.R1339H 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 19 0 0 7 7 50 CNTNAP5 0 genome.wustl.edu 37 2 125504877 125504877 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 125504877 125504877 G A SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.2146 p.G716R 0.998 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 106 1 0.934579 40 25 38.4615 MAP3K2 0 genome.wustl.edu 37 2 128079649 128079649 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 128079649 128079649 C T SNP MAP3K2 ENST00000344908 human ensembl 74_37 -1 known missense c.1018 p.V340I 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K2 HGNC ENSG00000169967 19 0 0 18 3 14.2857 LIMS2 0 genome.wustl.edu 37 2 128398501 128398501 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 128398501 128398501 G T SNP LIMS2 ENST00000413578 human ensembl 74_37 -1 known missense c.116 p.A39D 0.390 NULL NULL - no_errors LIMS2 HGNC ENSG00000072163 181 0 0 56 25 30.8642 CCDC74B 0 genome.wustl.edu 37 2 130902278 130902278 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 130902278 130902278 C T SNP CCDC74B ENST00000409128 human ensembl 74_37 -1 putative missense c.292 p.A98T 0.004 NULL NULL - no_errors CCDC74B HGNC ENSG00000152076 24 0 0 12 7 36.8421 POTEJ 0 genome.wustl.edu 37 2 131414950 131414950 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 131414950 131414950 C T SNP POTEJ ENST00000409602 human ensembl 74_37 +1 novel missense c.2617 p.R873C 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEJ HGNC ENSG00000222038 122 0 0 38 15 28.3019 POTEE 0 genome.wustl.edu 37 2 132021845 132021845 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 132021845 132021845 C A SNP POTEE ENST00000356920 human ensembl 74_37 +1 known missense c.2817 p.S939R 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEE HGNC ENSG00000188219 315 0 0 121 29 19.3333 POTEE 0 genome.wustl.edu 37 2 132021902 132021902 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 132021902 132021902 C T SNP POTEE ENST00000356920 human ensembl 74_37 +1 known silent c.2874 p.P958 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEE HGNC ENSG00000188219 94 0 0 31 13 29.5455 LOC150776 0 genome.wustl.edu 37 2 132277231 132277231 + RNA SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 132277231 132277231 C T SNP LOC150776 ENST00000438378 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AC093838.4 Clone_based_vega_gene ENSG00000152117 58 0 0 16 12 42.8571 ACMSD 0 genome.wustl.edu 37 2 135620998 135620998 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 135620998 135620998 C A SNP ACMSD ENST00000356140 human ensembl 74_37 +1 known missense c.283 p.L95I 0.579 pfam_Amidohydro_2 pfam_Amidohydro_2 - no_errors ACMSD HGNC ENSG00000153086 168 0 0 59 42 41.5842 LCT 0 genome.wustl.edu 37 2 136570016 136570016 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 136570016 136570016 A G SNP LCT ENST00000264162 human ensembl 74_37 -1 known missense c.2218 p.S740P 0.999 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 184 0 0 50 18 26.4706 THSD7B 0 genome.wustl.edu 37 2 137988667 137988667 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 137988667 137988667 T C SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.1777 p.S593P 0.004 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 58 0 0 21 8 27.5862 LRP1B 0 genome.wustl.edu 37 2 141202174 141202174 + Nonsense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 141202174 141202174 C A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known nonsense c.10132 p.G3378* 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 88 0 0 39 18 31.5789 LRP1B 0 genome.wustl.edu 37 2 141259341 141259341 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 141259341 141259341 T G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.8765 p.E2922A 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 110 0 0 41 20 32.7869 LRP1B 0 genome.wustl.edu 37 2 141747221 141747221 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 141747221 141747221 G T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.2650 p.H884N 1.000 superfamily_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 130 0 0 35 25 41.6667 ZEB2 0 genome.wustl.edu 37 2 145156636 145156636 + Silent SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 145156636 145156636 T C SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known silent c.2118 p.P706 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 347 0 0 92 75 44.9102 RND3 0 genome.wustl.edu 37 2 151326681 151326681 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 151326681 151326681 G A SNP RND3 ENST00000263895 human ensembl 74_37 -1 known silent c.555 p.S185 0.974 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RND3 HGNC ENSG00000115963 98 0 0 44 17 27.8689 NEB 0 genome.wustl.edu 37 2 152482152 152482152 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 152482152 152482152 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.10348 p.R3450C 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 25 0 0 10 10 50 NEB 0 genome.wustl.edu 37 2 152522696 152522696 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 152522696 152522696 C T SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.4939 p.A1647T 0.944 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 217 0 0 92 49 34.7518 NEB 0 genome.wustl.edu 37 2 152539212 152539212 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 152539212 152539212 C A SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.2907 p.M969I 1.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 31 0 0 15 7 31.8182 GPD2 0 genome.wustl.edu 37 2 157439405 157439405 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 157439405 157439405 T C SNP GPD2 ENST00000310454 human ensembl 74_37 +1 known missense c.2159 p.V720A 1.000 NULL pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_G3P_DH_FAD-dep - no_errors GPD2 HGNC ENSG00000115159 95 0 0 29 19 39.5833 TANC1 0 genome.wustl.edu 37 2 160035080 160035080 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 160035080 160035080 C T SNP TANC1 ENST00000263635 human ensembl 74_37 +1 known missense c.1916 p.A639V 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 128 0 0 37 31 45.5882 MARCH7 0 genome.wustl.edu 37 2 160599595 160599595 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 160599595 160599595 G A SNP MARCH7 ENST00000259050 human ensembl 74_37 +1 known silent c.177 p.A59 0.999 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH7 HGNC ENSG00000136536 119 0 0 61 21 25.6098 PXDN 0 genome.wustl.edu 37 2 1652162 1652162 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 1652162 1652162 C T SNP PXDN ENST00000252804 human ensembl 74_37 -1 known silent c.3390 p.V1130 0.982 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 80 0 0 32 11 25.5814 PXDN 0 genome.wustl.edu 37 2 1652451 1652451 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 1652451 1652451 C A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.3101 p.W1034L 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 19 0 0 7 3 30 PXDN 0 genome.wustl.edu 37 2 1652753 1652753 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 1652753 1652753 G A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known silent c.2799 p.R933 0.009 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 55 0 0 9 12 57.1429 COBLL1 0 genome.wustl.edu 37 2 165586543 165586543 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 165586543 165586543 C A SNP COBLL1 ENST00000194871 human ensembl 74_37 -1 known missense c.472 p.A158S 0.995 pfam_Cordon-bleu_ubiquitin_domain pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 90 0 0 37 3 7.5 CSRNP3 0 genome.wustl.edu 37 2 166535748 166535748 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 166535748 166535748 G A SNP CSRNP3 ENST00000314499 human ensembl 74_37 +1 known missense c.1243 p.G415S 1.000 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP3 HGNC ENSG00000178662 152 0 0 62 36 36.7347 XIRP2 0 genome.wustl.edu 37 2 168102667 168102667 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 168102667 168102667 A C SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.4765 p.N1589H 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 68 0 0 16 10 38.4615 PPIG 0 genome.wustl.edu 37 2 170493811 170493811 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 170493811 170493811 G T SNP PPIG ENST00000260970 human ensembl 74_37 +1 known missense c.2043 p.K681N 0.845 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIG HGNC ENSG00000138398 97 0 0 34 16 32 DYNC1I2 0 genome.wustl.edu 37 2 172585298 172585298 + Silent SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 172585298 172585298 T C SNP DYNC1I2 ENST00000397119 human ensembl 74_37 +1 known silent c.1329 p.D443 0.997 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 23 0 0 18 2 10 WIPF1 0 genome.wustl.edu 37 2 175436932 175436932 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 175436932 175436932 G A SNP WIPF1 ENST00000272746 human ensembl 74_37 -1 known missense c.601 p.R201W 1.000 NULL smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF1 HGNC ENSG00000115935 162 0 0 62 35 36.0825 HOXD10 0 genome.wustl.edu 37 2 176973594 176973594 + RNA SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 176973594 176973594 G T SNP HOXD10 ENST00000490088 human ensembl 74_37 +1 known rna NULL NULL 0.031 - - - no_errors HOXD10 HGNC ENSG00000128710 53 0 0 11 11 50 MTX2 0 genome.wustl.edu 37 2 177134392 177134392 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 177134392 177134392 T C SNP MTX2 ENST00000249442 human ensembl 74_37 +1 known missense c.35 p.I12T 0.997 NULL pfam_Sam37/metaxin,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors MTX2 HGNC ENSG00000128654 17 0 0 6 9 60 HNRNPA3 0 genome.wustl.edu 37 2 178080769 178080769 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 178080769 178080769 G T SNP HNRNPA3 ENST00000392524 human ensembl 74_37 +1 known missense c.406 p.D136Y 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA3 HGNC ENSG00000170144 38 0 0 15 6 28.5714 AGPS 0 genome.wustl.edu 37 2 178386003 178386003 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 178386003 178386003 G A SNP AGPS ENST00000264167 human ensembl 74_37 +1 known silent c.1704 p.T568 0.113 pfam_FAD-linked_oxidase_C,superfamily_FAD-linked_Oxase-like_C pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C - no_errors AGPS HGNC ENSG00000018510 108 0 0 32 15 31.9149 PRKRA 0 genome.wustl.edu 37 2 179296888 179296888 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 179296888 179296888 T G SNP PRKRA ENST00000325748 human ensembl 74_37 -1 known missense c.878 p.N293T 0.969 smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors PRKRA HGNC ENSG00000180228 96 0 0 43 15 25.8621 TTN 0 genome.wustl.edu 37 2 179471853 179471853 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 179471853 179471853 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.45772 p.G15258C 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 163 0 0 62 30 32.6087 TTN 0 genome.wustl.edu 37 2 179546140 179546140 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 179546140 179546140 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.29478 p.V9826 0.336 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 39 0 0 12 6 33.3333 TTN 0 genome.wustl.edu 37 2 179591924 179591924 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 179591924 179591924 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.16436 p.A5479D 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 116 0 0 60 4 6.25 TTN 0 genome.wustl.edu 37 2 179611032 179611032 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 179611032 179611032 T G SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.16095 p.E5365D 0.403 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 85 0 0 37 4 9.7561 ITGA4 0 genome.wustl.edu 37 2 182323028 182323028 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 182323028 182323028 C T SNP ITGA4 ENST00000397033 human ensembl 74_37 +1 known silent c.303 p.C101 0.971 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 32 0 0 11 5 31.25 SSFA2 0 genome.wustl.edu 37 2 182784139 182784139 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 182784139 182784139 G A SNP SSFA2 ENST00000431877 human ensembl 74_37 +1 known missense c.3110 p.R1037H 0.000 NULL NULL - no_errors SSFA2 HGNC ENSG00000138434 225 0 0 95 57 37.5 FSIP2 0 genome.wustl.edu 37 2 186689209 186689209 + Splice_Site SNP T T A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 186689209 186689209 T A SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known splice_site c.20740+2 e20+2 1.000 - - - no_errors FSIP2 HGNC ENSG00000188738 100 0 0 26 11 29.7297 COL5A2 0 genome.wustl.edu 37 2 189917496 189917496 + Silent SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 189917496 189917496 A G SNP COL5A2 ENST00000374866 human ensembl 74_37 -1 known silent c.2694 p.G898 0.651 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 56 0 0 21 12 36.3636 TMEM237 0 genome.wustl.edu 37 2 202496851 202496851 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 202496851 202496851 G T SNP TMEM237 ENST00000409883 human ensembl 74_37 -1 known missense c.476 p.T159N 0.001 NULL NULL - no_errors TMEM237 HGNC ENSG00000155755 149 0 0 56 39 41.0526 FZD7 0 genome.wustl.edu 37 2 202900305 202900305 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 202900305 202900305 G A SNP FZD7 ENST00000286201 human ensembl 74_37 +1 known missense c.935 p.R312H 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 FZD7 HGNC ENSG00000155760 150 0 0 90 5 5.26316 NRP2 0 genome.wustl.edu 37 2 206610590 206610590 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 206610590 206610590 G A SNP NRP2 ENST00000360409 human ensembl 74_37 +1 known missense c.1762 p.E588K 1.000 pirsf_Neuropilin,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP2 HGNC ENSG00000118257 120 0 0 64 21 24.7059 ADAM23 0 genome.wustl.edu 37 2 207482380 207482380 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 207482380 207482380 G T SNP ADAM23 ENST00000374416 human ensembl 74_37 +1 known missense c.2437 p.A813S 0.457 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM23 HGNC ENSG00000114948 47 0 0 21 7 25 MDH1B 0 genome.wustl.edu 37 2 207619965 207619965 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 207619965 207619965 C A SNP MDH1B ENST00000374412 human ensembl 74_37 -1 known missense c.678 p.E226D 0.001 NULL pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C - no_errors MDH1B HGNC ENSG00000138400 62 0 0 40 16 28.5714 CRYGEP 0 genome.wustl.edu 37 2 208973049 208973049 + RNA SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 208973049 208973049 G A SNP CRYGEP ENST00000440809 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors CRYGEP HGNC ENSG00000229150 32 0 0 18 7 28 CRYGA 0 genome.wustl.edu 37 2 209028137 209028137 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 209028137 209028137 G A SNP CRYGA ENST00000304502 human ensembl 74_37 -1 known missense c.43 p.R15C 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGA HGNC ENSG00000168582 151 0 0 69 23 25 APOB 0 genome.wustl.edu 37 2 21237354 21237354 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 21237354 21237354 C A SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.3808 p.D1270Y 0.982 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 89 0 0 46 20 30.303 ATIC 0 genome.wustl.edu 37 2 216197139 216197139 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 216197139 216197139 C T SNP ATIC ENST00000236959 human ensembl 74_37 +1 known silent c.723 p.C241 0.996 pfam_AICARFT_IMPCHas,superfamily_Cytidine_deaminase-like,smart_AICARFT_IMPCHas,pirsf_AICARFT_IMPCHas,tigrfam_AICARFT_IMPCHas pfam_AICARFT_IMPCHas,pfam_MGS-like_dom,superfamily_Cytidine_deaminase-like,superfamily_MGS-like_dom,smart_MGS-like_dom,smart_AICARFT_IMPCHas,pirsf_AICARFT_IMPCHas,tigrfam_AICARFT_IMPCHas - no_errors ATIC HGNC ENSG00000138363 148 0 0 60 24 28.5714 CXCR2P1 0 genome.wustl.edu 37 2 218925186 218925186 + RNA SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 218925186 218925186 T G SNP CXCR2P1 ENST00000439871 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CXCR2P1 HGNC ENSG00000229754 83 0 0 40 16 28.5714 CTDSP1 0 genome.wustl.edu 37 2 219269248 219269248 + RNA SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 219269248 219269248 G A SNP CTDSP1 ENST00000464255 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTDSP1 HGNC ENSG00000144579 23 0 0 17 5 22.7273 VIL1 0 genome.wustl.edu 37 2 219299403 219299403 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 219299403 219299403 C T SNP VIL1 ENST00000248444 human ensembl 74_37 +1 known missense c.1655 p.S552F 0.006 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VIL1 HGNC ENSG00000127831 136 0 0 92 5 5.15464 STK16 0 genome.wustl.edu 37 2 220111501 220111501 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 220111501 220111501 G A SNP STK16 ENST00000396738 human ensembl 74_37 +1 known missense c.209 p.R70H 1.000 pfam_Prot_kinase_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_dom pfam_Prot_kinase_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_dom - no_errors STK16 HGNC ENSG00000115661 86 0 0 33 18 35.2941 DES 0 genome.wustl.edu 37 2 220286144 220286144 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 220286144 220286144 G A SNP DES ENST00000373960 human ensembl 74_37 +1 known missense c.1106 p.R369H 0.900 pfam_IF pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors DES HGNC ENSG00000175084 105 0 0 50 14 21.875 EPHA4 0 genome.wustl.edu 37 2 222290845 222290845 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 222290845 222290845 C T SNP EPHA4 ENST00000281821 human ensembl 74_37 -1 known missense c.2864 p.G955D 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA4 HGNC ENSG00000116106 144 0 0 87 31 26.2712 RHBDD1 0 genome.wustl.edu 37 2 227773576 227773576 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 227773576 227773576 T C SNP RHBDD1 ENST00000341329 human ensembl 74_37 +1 known missense c.694 p.Y232H 0.343 NULL pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDD1 HGNC ENSG00000144468 145 0 0 138 11 7.38255 SPHKAP 0 genome.wustl.edu 37 2 228881852 228881852 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 228881852 228881852 G A SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.3718 p.P1240S 1.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 125 0 0 77 27 25.9615 ENSG00000225963 0 genome.wustl.edu 37 2 231036939 231036939 + RNA SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 231036939 231036939 G A SNP ENSG00000225963 ENST00000594622 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors AC009950.2 Clone_based_vega_gene ENSG00000225963 54 0 0 26 9 25.7143 SP100 0 genome.wustl.edu 37 2 231368993 231368993 + Nonsense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 231368993 231368993 C T SNP SP100 ENST00000340126 human ensembl 74_37 +1 known nonsense c.1858 p.R620* 0.000 pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC ENSG00000067066 183 0 0 86 23 21.1009 SAG 0 genome.wustl.edu 37 2 234240339 234240339 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 234240339 234240339 G A SNP SAG ENST00000409110 human ensembl 74_37 +1 known missense c.787 p.V263M 1.000 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors SAG HGNC ENSG00000130561 34 0 0 25 7 21.875 UGT1A4 0 genome.wustl.edu 37 2 234676936 234676936 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 234676936 234676936 C T SNP UGT1A4 ENST00000373409 human ensembl 74_37 +1 known silent c.1158 p.G386 0.008 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A4 HGNC ENSG00000244474 167 0 0 91 38 29.4574 SH3BP4 0 genome.wustl.edu 37 2 235951518 235951518 + Nonsense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 235951518 235951518 G A SNP SH3BP4 ENST00000344528 human ensembl 74_37 +1 known nonsense c.2105 p.W702* 1.000 pfam_SH3_2 pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors SH3BP4 HGNC ENSG00000130147 115 0 0 46 25 35.2113 AGAP1 0 genome.wustl.edu 37 2 236957795 236957795 + Nonsense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 236957795 236957795 C T SNP AGAP1 ENST00000304032 human ensembl 74_37 +1 known nonsense c.1984 p.R662* 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 142 0 0 67 23 25.5556 HDLBP 0 genome.wustl.edu 37 2 242195733 242195733 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 242195733 242195733 C T SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known missense c.739 p.E247K 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 176 0 0 95 29 23.3871 GAL3ST2 0 genome.wustl.edu 37 2 242742942 242742942 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 242742942 242742942 C T SNP GAL3ST2 ENST00000192314 human ensembl 74_37 +1 known silent c.558 p.N186 0.035 pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST2 HGNC ENSG00000154252 33 0 0 18 4 18.1818 FAM228A 0 genome.wustl.edu 37 2 24406406 24406406 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 24406406 24406406 C T SNP FAM228A ENST00000295150 human ensembl 74_37 +1 known missense c.293 p.A98V 0.809 NULL NULL - no_errors FAM228A HGNC ENSG00000186453 65 0 0 37 10 21.2766 NCOA1 0 genome.wustl.edu 37 2 24929665 24929665 + Silent SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 24929665 24929665 A C SNP NCOA1 ENST00000348332 human ensembl 74_37 +1 known silent c.1326 p.G442 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA1 HGNC ENSG00000084676 157 0 0 101 29 22.3077 ADCY3 0 genome.wustl.edu 37 2 25043704 25043704 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 25043704 25043704 G A SNP ADCY3 ENST00000260600 human ensembl 74_37 -1 known silent c.3141 p.G1047 0.976 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ENSG00000138031 138 0 0 87 22 20.1835 ADCY3 0 genome.wustl.edu 37 2 25047330 25047330 + Nonsense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 25047330 25047330 G A SNP ADCY3 ENST00000260600 human ensembl 74_37 -1 known nonsense c.2653 p.R885* 1.000 smart_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ENSG00000138031 124 0 0 66 23 25.8427 HADHA 0 genome.wustl.edu 37 2 26427022 26427022 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 26427022 26427022 C T SNP HADHA ENST00000380649 human ensembl 74_37 -1 known missense c.1129 p.A377T 1.000 pfam_3-OHacyl-CoA_DH_NAD-bd,tigrfam_Fa_ox_alpha_mit pfam_Crotonase_core_superfam,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_Fa_ox_alpha_mit - no_errors HADHA HGNC ENSG00000084754 479 0 0 266 95 26.3158 HADHB 0 genome.wustl.edu 37 2 26502871 26502871 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 26502871 26502871 C T SNP HADHB ENST00000317799 human ensembl 74_37 +1 known missense c.821 p.T274I 1.000 pfam_Thiolase_N,superfamily_Thiolase-like,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,tigrfam_Thiolase - no_errors HADHB HGNC ENSG00000138029 86 0 0 40 12 23.0769 OTOF 0 genome.wustl.edu 37 2 26688572 26688572 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 26688572 26688572 G A SNP OTOF ENST00000272371 human ensembl 74_37 -1 known silent c.4767 p.R1589 0.070 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 118 0 0 67 19 22.093 KCNK3 0 genome.wustl.edu 37 2 26915809 26915809 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 26915809 26915809 C T SNP KCNK3 ENST00000302909 human ensembl 74_37 +1 known silent c.66 p.G22 0.998 pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK3,prints_2pore_dom_K_chnl - no_errors KCNK3 HGNC ENSG00000171303 14 0 0 7 3 30 AGBL5 0 genome.wustl.edu 37 2 27276775 27276775 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 27276775 27276775 G A SNP AGBL5 ENST00000360131 human ensembl 74_37 +1 known silent c.399 p.T133 0.370 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 132 0 0 75 25 25 ALK 0 genome.wustl.edu 37 2 29450527 29450527 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 29450527 29450527 C T SNP ALK ENST00000389048 human ensembl 74_37 -1 known missense c.2827 p.A943T 0.939 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 138 1 0.719424 66 24 26.6667 XDH 0 genome.wustl.edu 37 2 31598263 31598263 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 31598263 31598263 G T SNP XDH ENST00000379416 human ensembl 74_37 -1 known missense c.1585 p.Q529K 0.021 superfamily_CO_DH_flav_C,pirsf_Ald_Oxase/xanthine_DH pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 215 0 0 120 13 9.77444 SPAST 0 genome.wustl.edu 37 2 32289087 32289087 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 32289087 32289087 C T SNP SPAST ENST00000315285 human ensembl 74_37 +1 known silent c.187 p.L63 1.000 pirsf_Spastin pfam_ATPase_AAA_core,pfam_MIT,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase,pirsf_Spastin - no_errors SPAST HGNC ENSG00000021574 57 0 0 41 11 21.1538 NLRC4 0 genome.wustl.edu 37 2 32449667 32449667 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 32449667 32449667 C T SNP NLRC4 ENST00000360906 human ensembl 74_37 -1 known missense c.2950 p.V984I 0.133 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NLRC4 HGNC ENSG00000091106 112 0 0 60 18 23.0769 BIRC6 0 genome.wustl.edu 37 2 32626306 32626306 + Silent SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 32626306 32626306 C A SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known silent c.1110 p.V370 0.995 superfamily_WD40_repeat_dom pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 192 0 0 139 29 17.2619 LTBP1 0 genome.wustl.edu 37 2 33525616 33525616 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 33525616 33525616 T C SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known missense c.3337 p.S1113P 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 72 0 0 50 18 26.4706 COLEC11 0 genome.wustl.edu 37 2 3691529 3691529 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 3691529 3691529 G A SNP COLEC11 ENST00000418971 human ensembl 74_37 +1 known missense c.679 p.A227T 0.114 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors COLEC11 HGNC ENSG00000118004 110 0 0 51 16 23.8806 COLEC11 0 genome.wustl.edu 37 2 3691760 3691760 + RNA SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 3691760 3691760 G A SNP COLEC11 ENST00000460971 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors COLEC11 HGNC ENSG00000118004 61 0 0 25 6 19.3548 HEATR5B 0 genome.wustl.edu 37 2 37208749 37208749 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 37208749 37208749 G A SNP HEATR5B ENST00000233099 human ensembl 74_37 -1 known missense c.6100 p.R2034C 0.999 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 119 0 0 52 17 24.6377 THADA 0 genome.wustl.edu 37 2 43801624 43801624 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 43801624 43801624 A C SNP THADA ENST00000405006 human ensembl 74_37 -1 known missense c.1580 p.V527G 1.000 superfamily_ARM-type_fold pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 32 0 0 25 9 26.4706 ABCG5 0 genome.wustl.edu 37 2 44049989 44049989 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 44049989 44049989 G A SNP ABCG5 ENST00000260645 human ensembl 74_37 -1 known silent c.1410 p.H470 0.000 pfam_ABC_2_trans pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG5 HGNC ENSG00000138075 86 0 0 33 10 23.2558 ABCG8 0 genome.wustl.edu 37 2 44099210 44099210 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 44099210 44099210 C T SNP ABCG8 ENST00000272286 human ensembl 74_37 +1 known missense c.1060 p.R354C 0.191 NULL pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,pfscan_ABC_transporter-like - no_errors ABCG8 HGNC ENSG00000143921 173 0 0 70 17 19.5402 PREPL 0 genome.wustl.edu 37 2 44556113 44556113 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 44556113 44556113 C A SNP PREPL ENST00000260648 human ensembl 74_37 -1 known missense c.1492 p.V498L 1.000 pfam_Peptidase_S9 pfam_Peptidase_S9,pfam_Pept_S9A_N,prints_Peptidase_S9A - no_errors PREPL HGNC ENSG00000138078 147 0 0 108 26 19.403 SIX3 0 genome.wustl.edu 37 2 45169339 45169339 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 45169339 45169339 C T SNP SIX3 ENST00000260653 human ensembl 74_37 +1 known silent c.96 p.S32 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX3 HGNC ENSG00000138083 126 0 0 60 41 40.5941 SIX3 0 genome.wustl.edu 37 2 45169645 45169645 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 45169645 45169645 G A SNP SIX3 ENST00000260653 human ensembl 74_37 +1 known silent c.402 p.A134 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX3 HGNC ENSG00000138083 34 0 0 22 5 18.5185 SIX2 0 genome.wustl.edu 37 2 45235938 45235938 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 45235938 45235938 G A SNP SIX2 ENST00000303077 human ensembl 74_37 -1 known silent c.312 p.G104 0.993 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX2 HGNC ENSG00000170577 115 0 0 71 14 16.4706 NRXN1 0 genome.wustl.edu 37 2 50170851 50170851 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 50170851 50170851 C A SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.4183 p.G1395C 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 32 0 0 35 3 7.89474 BCL11A 0 genome.wustl.edu 37 2 60687749 60687749 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 60687749 60687749 G A SNP BCL11A ENST00000335712 human ensembl 74_37 -1 known silent c.2298 p.G766 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11A HGNC ENSG00000119866 147 0 0 70 57 44.8819 BCL11A 0 genome.wustl.edu 37 2 60688714 60688714 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 60688714 60688714 C T SNP BCL11A ENST00000335712 human ensembl 74_37 -1 known missense c.1333 p.A445T 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11A HGNC ENSG00000119866 98 0 0 67 18 21.1765 ACTR2 0 genome.wustl.edu 37 2 65482777 65482777 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 65482777 65482777 G A SNP ACTR2 ENST00000377982 human ensembl 74_37 +1 known silent c.699 p.E233 0.996 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTR2 HGNC ENSG00000138071 100 0 0 60 19 24.0506 SPRED2 0 genome.wustl.edu 37 2 65559175 65559175 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 65559175 65559175 C T SNP SPRED2 ENST00000356388 human ensembl 74_37 -1 known silent c.384 p.T128 0.971 NULL pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED2 HGNC ENSG00000198369 76 0 0 43 18 29.5082 ETAA1 0 genome.wustl.edu 37 2 67631124 67631124 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 67631124 67631124 G T SNP ETAA1 ENST00000272342 human ensembl 74_37 +1 known missense c.1310 p.R437M 0.000 NULL NULL - no_errors ETAA1 HGNC ENSG00000143971 50 0 0 28 11 28.2051 PROKR1 0 genome.wustl.edu 37 2 68882419 68882419 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 68882419 68882419 C T SNP PROKR1 ENST00000303786 human ensembl 74_37 +1 known missense c.893 p.A298V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR1 HGNC ENSG00000169618 93 0 0 59 10 14.4928 ANTXR1 0 genome.wustl.edu 37 2 69409751 69409751 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 69409751 69409751 C T SNP ANTXR1 ENST00000303714 human ensembl 74_37 +1 known missense c.1312 p.R438C 1.000 pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_C pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel,pfam_Anthrax_toxin_rcpt_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR1 HGNC ENSG00000169604 156 0 0 73 24 24.7423 ANTXR1 0 genome.wustl.edu 37 2 69472360 69472360 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 69472360 69472360 C T SNP ANTXR1 ENST00000303714 human ensembl 74_37 +1 known missense c.1438 p.R480C 1.000 pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_C pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel,pfam_Anthrax_toxin_rcpt_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR1 HGNC ENSG00000169604 155 0 0 67 16 19.2771 CD207 0 genome.wustl.edu 37 2 71060989 71060989 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 71060989 71060989 T C SNP CD207 ENST00000410009 human ensembl 74_37 -1 known missense c.353 p.Y118C 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CD207 HGNC ENSG00000116031 69 0 0 51 6 10.5263 ZNF638 0 genome.wustl.edu 37 2 71631033 71631033 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 71631033 71631033 T G SNP ZNF638 ENST00000264447 human ensembl 74_37 +1 known missense c.2863 p.S955A 1.000 smart_RRM_dom pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ENSG00000075292 150 0 0 85 35 29.1667 DYSF 0 genome.wustl.edu 37 2 71891503 71891503 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 71891503 71891503 C T SNP DYSF ENST00000413539 human ensembl 74_37 +1 known silent c.5085 p.V1695 0.028 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 108 0 0 50 6 10.7143 EXOC6B 0 genome.wustl.edu 37 2 73052953 73052953 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 73052953 73052953 G A SNP EXOC6B ENST00000272427 human ensembl 74_37 -1 known silent c.87 p.D29 1.000 pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6B HGNC ENSG00000144036 96 0 0 64 8 11.1111 CCT7 0 genome.wustl.edu 37 2 73476983 73476983 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 73476983 73476983 C A SNP CCT7 ENST00000258091 human ensembl 74_37 +1 known missense c.1009 p.L337M 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_eta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_eta - no_errors CCT7 HGNC ENSG00000135624 433 0 0 198 68 25.5639 EGR4 0 genome.wustl.edu 37 2 73518762 73518762 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 73518762 73518762 G A SNP EGR4 ENST00000545030 human ensembl 74_37 -1 known silent c.1593 p.H531 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR4 HGNC ENSG00000135625 82 0 0 55 16 22.5352 STAMBP 0 genome.wustl.edu 37 2 74089388 74089388 + RNA SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 74089388 74089388 C T SNP STAMBP ENST00000486458 human ensembl 74_37 +1 known rna NULL NULL 0.732 - - - no_errors STAMBP HGNC ENSG00000124356 78 0 0 43 11 20.3704 TET3 0 genome.wustl.edu 37 2 74327960 74327960 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 74327960 74327960 G A SNP TET3 ENST00000409262 human ensembl 74_37 +1 known missense c.3640 p.A1214T 0.966 NULL NULL - no_errors TET3 HGNC ENSG00000187605 32 0 0 12 5 29.4118 DCTN1 0 genome.wustl.edu 37 2 74596537 74596537 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 74596537 74596537 C A SNP DCTN1 ENST00000361874 human ensembl 74_37 -1 known missense c.1474 p.A492S 1.000 superfamily_P-loop_NTPase pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,superfamily_P-loop_NTPase,pfscan_CAP-Gly_domain - no_errors DCTN1 HGNC ENSG00000204843 101 0 0 66 34 34 MOGS 0 genome.wustl.edu 37 2 74689868 74689868 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 74689868 74689868 G A SNP MOGS ENST00000233616 human ensembl 74_37 -1 known missense c.1048 p.P350S 0.156 pfam_Glycoside_hydrolase_63 pfam_Glycoside_hydrolase_63,superfamily_6-hairpin_glycosidase-like - no_errors MOGS HGNC ENSG00000115275 202 0 0 100 37 27.0073 DQX1 0 genome.wustl.edu 37 2 74746315 74746315 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 74746315 74746315 T G SNP DQX1 ENST00000393951 human ensembl 74_37 -1 known missense c.1849 p.T617P 0.998 pfam_DUF1605 pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DQX1 HGNC ENSG00000144045 108 0 0 54 21 28 LRRTM4 0 genome.wustl.edu 37 2 77746550 77746550 + Nonsense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 77746550 77746550 G A SNP LRRTM4 ENST00000409911 human ensembl 74_37 -1 known nonsense c.448 p.Q150* 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 88 0 0 55 18 24.6575 POLR1A 0 genome.wustl.edu 37 2 86255759 86255759 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 86255759 86255759 G A SNP POLR1A ENST00000263857 human ensembl 74_37 -1 known missense c.4855 p.R1619W 1.000 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 138 0 0 80 21 20.7921 ITGB1BP1 0 genome.wustl.edu 37 2 9547672 9547672 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 9547672 9547672 T C SNP ITGB1BP1 ENST00000355346 human ensembl 74_37 -1 known missense c.437 p.D146G 1.000 pfam_Integrin-bd_ICAP-1,smart_PTB/PI_dom pfam_Integrin-bd_ICAP-1,smart_PTB/PI_dom - no_errors ITGB1BP1 HGNC ENSG00000119185 70 0 0 62 16 20.5128 ANKRD20A8P 0 genome.wustl.edu 37 2 95513843 95513843 + RNA SNP A A T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 95513843 95513843 A T SNP ANKRD20A8P ENST00000432432 human ensembl 74_37 -1 known rna NULL NULL 0.430 - - - no_errors ANKRD20A8P HGNC ENSG00000229089 673 0 0 431 90 17.2745 KCNIP3 0 genome.wustl.edu 37 2 95975975 95975975 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 95975975 95975975 G A SNP KCNIP3 ENST00000360990 human ensembl 74_37 +1 known silent c.6 p.Q2 0.000 NULL pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors KCNIP3 HGNC ENSG00000115041 14 0 0 8 4 33.3333 ASTL 0 genome.wustl.edu 37 2 96801118 96801118 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 96801118 96801118 A C SNP ASTL ENST00000342380 human ensembl 74_37 -1 known missense c.215 p.F72C 0.982 NULL pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A - no_errors ASTL HGNC ENSG00000188886 49 0 0 40 7 14.8936 SNRNP200 0 genome.wustl.edu 37 2 96945221 96945221 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 96945221 96945221 G A SNP SNRNP200 ENST00000323853 human ensembl 74_37 -1 known missense c.5101 p.R1701C 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 67 0 0 35 9 20.4545 SNRNP200 0 genome.wustl.edu 37 2 96956165 96956165 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 96956165 96956165 A G SNP SNRNP200 ENST00000323853 human ensembl 74_37 -1 known missense c.2641 p.S881P 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 189 0 0 112 40 26.3158 KANSL3 0 genome.wustl.edu 37 2 97268532 97268532 + Silent SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 97268532 97268532 G T SNP KANSL3 ENST00000431828 human ensembl 74_37 -1 known silent c.2217 p.T739 0.994 NULL NULL - no_errors KANSL3 HGNC ENSG00000114982 166 0 0 98 27 21.6 KANSL3 0 genome.wustl.edu 37 2 97285224 97285224 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 97285224 97285224 G A SNP KANSL3 ENST00000431828 human ensembl 74_37 -1 known missense c.535 p.R179W 1.000 NULL NULL - no_errors KANSL3 HGNC ENSG00000114982 61 0 0 39 9 18.75 TMEM131 0 genome.wustl.edu 37 2 98409946 98409946 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 98409946 98409946 G A SNP TMEM131 ENST00000186436 human ensembl 74_37 -1 known missense c.3457 p.R1153W 1.000 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 56 0 0 42 4 8.69565 RBBP9 0 genome.wustl.edu 37 20 18470617 18470617 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 18470617 18470617 A G SNP RBBP9 ENST00000337227 human ensembl 74_37 -1 known missense c.352 p.W118R 1.000 pfam_DUF1234_Hydrolase pfam_DUF1234_Hydrolase - no_errors RBBP9 HGNC ENSG00000089050 48 0 0 50 4 7.40741 SLC24A3 0 genome.wustl.edu 37 20 19496186 19496186 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 19496186 19496186 C T SNP SLC24A3 ENST00000328041 human ensembl 74_37 +1 known missense c.326 p.A109V 0.569 NULL pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A3 HGNC ENSG00000185052 210 0 0 127 25 16.4474 C20orf26 0 genome.wustl.edu 37 20 20243636 20243636 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 20243636 20243636 C A SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known missense c.2365 p.L789M 0.012 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 139 0 0 82 17 17.1717 NKX2-4 0 genome.wustl.edu 37 20 21377059 21377059 + Silent SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 21377059 21377059 T C SNP NKX2-4 ENST00000351817 human ensembl 74_37 -1 known silent c.555 p.A185 0.977 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-4 HGNC ENSG00000125816 10 0 0 10 3 23.0769 NKX2-4 0 genome.wustl.edu 37 20 21377937 21377937 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 21377937 21377937 G A SNP NKX2-4 ENST00000351817 human ensembl 74_37 -1 known missense c.101 p.A34V 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-4 HGNC ENSG00000125816 19 0 0 11 4 26.6667 THBD 0 genome.wustl.edu 37 20 23028480 23028480 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 23028480 23028480 G A SNP THBD ENST00000377103 human ensembl 74_37 -1 known silent c.1662 p.C554 0.088 pirsf_CD93/CD141,prints_Thrombomodulin pirsf_CD93/CD141,pfam_Tme5_EGF-like,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,prints_Thrombomodulin,pfscan_C-type_lectin - no_errors THBD HGNC ENSG00000178726 17 0 0 10 3 23.0769 CD93 0 genome.wustl.edu 37 20 23065616 23065616 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 23065616 23065616 C T SNP CD93 ENST00000246006 human ensembl 74_37 -1 known missense c.1214 p.G405D 1.000 pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 78 0 0 75 15 16.6667 CST8 0 genome.wustl.edu 37 20 23472415 23472415 + Silent SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 23472415 23472415 C A SNP CST8 ENST00000246012 human ensembl 74_37 +1 known silent c.111 p.P37 0.000 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST8 HGNC ENSG00000125815 227 1 0.438596 144 44 23.4043 ZNF343 0 genome.wustl.edu 37 20 2464233 2464233 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 2464233 2464233 C T SNP ZNF343 ENST00000278772 human ensembl 74_37 -1 known silent c.1374 p.T458 0.335 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 ZNF343 HGNC ENSG00000088876 97 0 0 64 5 7.24638 PYGB 0 genome.wustl.edu 37 20 25277134 25277134 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 25277134 25277134 G A SNP PYGB ENST00000216962 human ensembl 74_37 +1 known silent c.2508 p.P836 0.050 pirsf_Glyco_trans_35 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC ENSG00000100994 101 1 0.980392 73 11 13.0952 TMC2 0 genome.wustl.edu 37 20 2593877 2593877 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 2593877 2593877 C T SNP TMC2 ENST00000358864 human ensembl 74_37 +1 known missense c.1781 p.T594M 1.000 pfam_TMC pfam_TMC - no_errors TMC2 HGNC ENSG00000149488 77 0 0 42 8 16 LZTS3 0 genome.wustl.edu 37 20 3145314 3145314 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 3145314 3145314 C T SNP LZTS3 ENST00000329152 human ensembl 74_37 -1 known missense c.1808 p.R603H 1.000 NULL NULL - no_errors LZTS3 Uniprot_gn ENSG00000088899 34 0 0 28 8 22.2222 BPIFB6 0 genome.wustl.edu 37 20 31622664 31622664 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 31622664 31622664 A C SNP BPIFB6 ENST00000349552 human ensembl 74_37 +1 known missense c.398 p.K133T 0.993 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB6 HGNC ENSG00000167104 83 0 0 52 10 16.129 BPIFB4 0 genome.wustl.edu 37 20 31671497 31671497 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 31671497 31671497 C T SNP BPIFB4 ENST00000375483 human ensembl 74_37 +1 known missense c.494 p.A165V 0.913 NULL pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB4 HGNC ENSG00000186191 90 0 0 61 10 14.0845 E2F1 0 genome.wustl.edu 37 20 32266038 32266038 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 32266038 32266038 G A SNP E2F1 ENST00000343380 human ensembl 74_37 -1 known missense c.694 p.R232C 0.091 NULL pfam_E2F_TDP - no_errors E2F1 HGNC ENSG00000101412 55 0 0 45 5 10 PXMP4 0 genome.wustl.edu 37 20 32298462 32298462 + Nonsense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 32298462 32298462 G A SNP PXMP4 ENST00000409299 human ensembl 74_37 -1 known nonsense c.274 p.Q92* 1.000 pirsf_Pmp4 pirsf_Pmp4 - no_errors PXMP4 HGNC ENSG00000101417 117 0 0 73 20 21.5054 MMP24 0 genome.wustl.edu 37 20 33851679 33851679 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 33851679 33851679 G A SNP MMP24 ENST00000246186 human ensembl 74_37 +1 known silent c.903 p.A301 0.001 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP24 HGNC ENSG00000125966 44 0 0 33 4 10.8108 CEP250 0 genome.wustl.edu 37 20 34099444 34099444 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 34099444 34099444 G A SNP CEP250 ENST00000397527 human ensembl 74_37 +1 known missense c.7318 p.A2440T 0.001 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 60 0 0 24 29 54.717 AAR2 0 genome.wustl.edu 37 20 34832708 34832708 + Silent SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 34832708 34832708 C A SNP AAR2 ENST00000320849 human ensembl 74_37 +1 known silent c.847 p.R283 1.000 pfam_AAR2 pfam_AAR2 - no_errors AAR2 HGNC ENSG00000131043 151 1 0.657895 101 26 20.4724 AAR2 0 genome.wustl.edu 37 20 34843569 34843569 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 34843569 34843569 G A SNP AAR2 ENST00000320849 human ensembl 74_37 +1 known missense c.1057 p.A353T 1.000 pfam_AAR2 pfam_AAR2 - no_errors AAR2 HGNC ENSG00000131043 186 0 0 150 29 16.2011 PPP1R16B 0 genome.wustl.edu 37 20 37546809 37546809 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 37546809 37546809 C T SNP PPP1R16B ENST00000299824 human ensembl 74_37 +1 known silent c.1204 p.L402 0.986 pirsf_Pase-1_reg_su_16AB_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R16B HGNC ENSG00000101445 279 0 0 158 38 19.3878 PPP1R16B 0 genome.wustl.edu 37 20 37546995 37546995 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 37546995 37546995 G A SNP PPP1R16B ENST00000299824 human ensembl 74_37 +1 known missense c.1390 p.D464N 0.161 pirsf_Pase-1_reg_su_16AB_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R16B HGNC ENSG00000101445 185 0 0 124 34 21.519 DHX35 0 genome.wustl.edu 37 20 37632521 37632521 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 37632521 37632521 T C SNP DHX35 ENST00000252011 human ensembl 74_37 +1 known missense c.982 p.F328L 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX35 HGNC ENSG00000101452 155 0 0 132 31 19.0184 MAFB 0 genome.wustl.edu 37 20 39317182 39317182 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 39317182 39317182 C T SNP MAFB ENST00000373313 human ensembl 74_37 -1 known silent c.309 p.T103 1.000 pfam_Maf_TF_N pfam_bZIP_Maf,pfam_Maf_TF_N,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors MAFB HGNC ENSG00000204103 105 0 0 65 18 21.6867 RNF24 0 genome.wustl.edu 37 20 3944542 3944542 + Silent SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 3944542 3944542 G T SNP RNF24 ENST00000432261 human ensembl 74_37 -1 known silent c.186 p.L62 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF24 HGNC ENSG00000101236 66 0 0 61 8 11.5942 CHD6 0 genome.wustl.edu 37 20 40068644 40068644 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 40068644 40068644 C T SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.4003 p.E1335K 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 47 0 0 49 12 19.6721 PTPRT 0 genome.wustl.edu 37 20 40713420 40713420 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 40713420 40713420 C T SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known silent c.4095 p.T1365 0.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 46 0 0 55 14 20.2899 PTPRT 0 genome.wustl.edu 37 20 40730848 40730848 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 40730848 40730848 G A SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known silent c.3687 p.D1229 0.406 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 136 0 0 100 19 15.9664 KCNK15 0 genome.wustl.edu 37 20 43379275 43379275 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 43379275 43379275 G A SNP KCNK15 ENST00000372861 human ensembl 74_37 +1 known silent c.789 p.P263 0.003 pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_TASK5,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl - no_errors KCNK15 HGNC ENSG00000124249 38 0 0 26 10 27.7778 MATN4 0 genome.wustl.edu 37 20 43927120 43927120 + Silent SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 43927120 43927120 C A SNP MATN4 ENST00000372754 human ensembl 74_37 -1 known silent c.1239 p.V413 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_VWF_A - no_errors MATN4 HGNC ENSG00000124159 105 0 0 87 15 14.7059 MATN4 0 genome.wustl.edu 37 20 43933374 43933374 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 43933374 43933374 C T SNP MATN4 ENST00000372754 human ensembl 74_37 -1 known missense c.137 p.R46H 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_VWF_A - no_errors MATN4 HGNC ENSG00000124159 59 0 0 53 8 13.1148 PCIF1 0 genome.wustl.edu 37 20 44576240 44576240 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 44576240 44576240 C T SNP PCIF1 ENST00000372409 human ensembl 74_37 +1 known missense c.1961 p.A654V 0.998 NULL pfam_PCIF1_WW,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors PCIF1 HGNC ENSG00000100982 116 0 0 78 24 23.5294 ZNF335 0 genome.wustl.edu 37 20 44580806 44580806 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 44580806 44580806 G T SNP ZNF335 ENST00000322927 human ensembl 74_37 -1 known missense c.3169 p.R1057S 0.057 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF335 HGNC ENSG00000198026 51 0 0 29 5 14.7059 ZNF335 0 genome.wustl.edu 37 20 44592349 44592349 + RNA SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 44592349 44592349 G A SNP ZNF335 ENST00000475002 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF335 HGNC ENSG00000198026 418 1 0.238663 249 57 18.6275 ZNF334 0 genome.wustl.edu 37 20 45131398 45131398 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 45131398 45131398 C T SNP ZNF334 ENST00000347606 human ensembl 74_37 -1 known missense c.580 p.E194K 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF334 HGNC ENSG00000198185 126 0 0 88 13 12.8713 NCOA3 0 genome.wustl.edu 37 20 46268496 46268496 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 46268496 46268496 G A SNP NCOA3 ENST00000371998 human ensembl 74_37 +1 known silent c.2883 p.L961 0.991 pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA3 HGNC ENSG00000124151 151 0 0 120 34 22.0779 NCOA3 0 genome.wustl.edu 37 20 46279842 46279842 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 46279842 46279842 G A SNP NCOA3 ENST00000371998 human ensembl 74_37 +1 known silent c.3768 p.Q1256 0.555 pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA3 HGNC ENSG00000124151 96 0 0 76 7 8.43373 PRND 0 genome.wustl.edu 37 20 4705463 4705463 + Missense_Mutation SNP T T A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 4705463 4705463 T A SNP PRND ENST00000305817 human ensembl 74_37 +1 known missense c.266 p.I89N 0.994 pfam_Prion/Doppel_prot_b-ribbon_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Doppel,superfamily_Prion/Doppel_prot_b-ribbon_dom - no_errors PRND HGNC ENSG00000171864 86 0 0 55 9 14.0625 ZNFX1 0 genome.wustl.edu 37 20 47866123 47866123 + Nonsense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 47866123 47866123 G T SNP ZNFX1 ENST00000371752 human ensembl 74_37 -1 known nonsense c.3438 p.C1146* 0.999 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 190 0 0 124 26 17.3333 B4GALT5 0 genome.wustl.edu 37 20 48257081 48257081 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 48257081 48257081 C T SNP B4GALT5 ENST00000371711 human ensembl 74_37 -1 known missense c.728 p.R243H 1.000 pfam_Galactosyl_T_C,prints_Galactosyl_T pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT5 HGNC ENSG00000158470 121 0 0 91 22 19.469 NFATC2 0 genome.wustl.edu 37 20 50139752 50139752 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 50139752 50139752 C T SNP NFATC2 ENST00000396009 human ensembl 74_37 -1 known missense c.1028 p.R343H 0.979 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 158 1 0.628931 108 27 20 SALL4 0 genome.wustl.edu 37 20 50407649 50407649 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 50407649 50407649 G A SNP SALL4 ENST00000217086 human ensembl 74_37 -1 known missense c.1373 p.A458V 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 164 0 0 145 9 5.84416 ZFP64 0 genome.wustl.edu 37 20 50701394 50701394 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 50701394 50701394 C A SNP ZFP64 ENST00000361387 human ensembl 74_37 -1 known missense c.1640 p.R547M 1.000 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 101 0 0 88 26 22.807 ZFP64 0 genome.wustl.edu 37 20 50776842 50776842 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 50776842 50776842 G A SNP ZFP64 ENST00000216923 human ensembl 74_37 -1 known missense c.583 p.R195W 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 182 0 0 137 43 23.8889 PCK1 0 genome.wustl.edu 37 20 56138777 56138777 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 56138777 56138777 G A SNP PCK1 ENST00000319441 human ensembl 74_37 +1 known missense c.955 p.A319T 0.001 pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP - no_errors PCK1 HGNC ENSG00000124253 170 0 0 126 38 23.1707 ZBP1 0 genome.wustl.edu 37 20 56190060 56190060 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 56190060 56190060 C T SNP ZBP1 ENST00000343535 human ensembl 74_37 -1 known missense c.385 p.A129T 0.300 pfam_dsRNA_A_deaminase,smart_dsRNA_A_deaminase pfam_dsRNA_A_deaminase,smart_dsRNA_A_deaminase - no_errors ZBP1 HGNC ENSG00000124256 293 0 0 214 54 20.1493 ZBP1 0 genome.wustl.edu 37 20 56190205 56190205 + RNA SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 56190205 56190205 G T SNP ZBP1 ENST00000432548 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZBP1 HGNC ENSG00000124256 38 0 0 31 5 13.8889 ZNF831 0 genome.wustl.edu 37 20 57766431 57766431 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 57766431 57766431 C T SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel silent c.357 p.G119 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 42 0 0 37 8 17.7778 ZNF831 0 genome.wustl.edu 37 20 57767406 57767406 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 57767406 57767406 G A SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel silent c.1332 p.T444 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 50 0 0 55 6 9.83607 MCM8 0 genome.wustl.edu 37 20 5966634 5966634 + Silent SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 5966634 5966634 C A SNP MCM8 ENST00000378886 human ensembl 74_37 +1 known silent c.2140 p.R714 1.000 pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM8 HGNC ENSG00000125885 125 0 0 107 17 13.7097 LRRN4 0 genome.wustl.edu 37 20 6022874 6022874 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 6022874 6022874 G A SNP LRRN4 ENST00000378858 human ensembl 74_37 -1 known silent c.1017 p.C339 0.009 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4 HGNC ENSG00000125872 60 0 0 62 11 15.0685 LRRN4 0 genome.wustl.edu 37 20 6031513 6031513 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 6031513 6031513 G A SNP LRRN4 ENST00000378858 human ensembl 74_37 -1 known silent c.772 p.L258 0.980 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4 HGNC ENSG00000125872 146 0 0 74 61 45.1852 CDH4 0 genome.wustl.edu 37 20 60511884 60511884 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 60511884 60511884 C T SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known silent c.2634 p.G878 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 86 0 0 51 5 8.92857 RPS21 0 genome.wustl.edu 37 20 60963012 60963012 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 60963012 60963012 G A SNP RPS21 ENST00000370592 human ensembl 74_37 +1 known silent c.228 p.S76 0.000 pirsf_Ribosomal_S21e pfam_Ribosomal_S21e,pirsf_Ribosomal_S21e - no_errors RPS21 HGNC ENSG00000171858 79 0 0 57 12 17.3913 FERMT1 0 genome.wustl.edu 37 20 6096554 6096554 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 6096554 6096554 G A SNP FERMT1 ENST00000217289 human ensembl 74_37 -1 known silent c.289 p.L97 1.000 smart_Band_41_domain pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT1 HGNC ENSG00000101311 170 0 0 116 34 22.6667 NTSR1 0 genome.wustl.edu 37 20 61340658 61340658 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 61340658 61340658 G A SNP NTSR1 ENST00000370501 human ensembl 74_37 +1 known silent c.99 p.P33 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NT1_rcpt,prints_GPCR_Rhodpsn,prints_NT_rcpt - no_errors NTSR1 HGNC ENSG00000101188 23 0 0 21 5 19.2308 COL9A3 0 genome.wustl.edu 37 20 61467861 61467861 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 61467861 61467861 A G SNP COL9A3 ENST00000343916 human ensembl 74_37 +1 known missense c.1580 p.E527G 1.000 NULL pfam_Collagen - no_errors COL9A3 HGNC ENSG00000092758 32 0 0 23 10 30.303 EEF1A2 0 genome.wustl.edu 37 20 62127345 62127345 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 62127345 62127345 A G SNP EEF1A2 ENST00000217182 human ensembl 74_37 -1 known missense c.188 p.L63P 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,tigrfam_Transl_elong_EF1A_euk/arc pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A2 HGNC ENSG00000101210 193 0 0 135 35 20.5882 ZGPAT 0 genome.wustl.edu 37 20 62340125 62340125 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 62340125 62340125 G A SNP ZGPAT ENST00000328969 human ensembl 74_37 +1 known missense c.193 p.A65T 0.001 NULL pfam_G_patch_dom,smart_Znf_CCCH,smart_G_patch_dom,pfscan_G_patch_dom - no_errors ZGPAT HGNC ENSG00000197114 156 1 0.636943 78 74 48.6842 PRPF6 0 genome.wustl.edu 37 20 62664278 62664278 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 62664278 62664278 G A SNP PRPF6 ENST00000266079 human ensembl 74_37 +1 known missense c.2758 p.A920T 1.000 NULL pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC ENSG00000101161 94 0 0 65 13 16.6667 PLCB1 0 genome.wustl.edu 37 20 8678275 8678275 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 8678275 8678275 G A SNP PLCB1 ENST00000338037 human ensembl 74_37 +1 known missense c.1012 p.G338S 1.000 pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C,pfscan_PLipase_C_PInositol-sp_X_dom pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 220 0 0 149 34 18.5792 PLCB1 0 genome.wustl.edu 37 20 8696934 8696934 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 8696934 8696934 C T SNP PLCB1 ENST00000338037 human ensembl 74_37 +1 known missense c.1274 p.A425V 1.000 pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 68 0 0 48 15 23.8095 PLCB4 0 genome.wustl.edu 37 20 9368189 9368189 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 9368189 9368189 G T SNP PLCB4 ENST00000334005 human ensembl 74_37 +1 known missense c.1144 p.D382Y 1.000 pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC ENSG00000101333 59 0 0 47 9 16.0714 NRIP1 0 genome.wustl.edu 37 21 16340025 16340025 + Silent SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 21 16340025 16340025 G T SNP NRIP1 ENST00000318948 human ensembl 74_37 -1 known silent c.489 p.A163 1.000 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 71 0 0 37 6 13.9535 USP25 0 genome.wustl.edu 37 21 17199417 17199417 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 21 17199417 17199417 G T SNP USP25 ENST00000400183 human ensembl 74_37 +1 known missense c.1588 p.D530Y 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,superfamily_UBA-like,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67 - no_errors USP25 HGNC ENSG00000155313 112 0 0 91 7 7.14286 APP 0 genome.wustl.edu 37 21 27394342 27394342 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 21 27394342 27394342 C T SNP APP ENST00000346798 human ensembl 74_37 -1 known missense c.679 p.E227K 0.983 NULL pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Amyloid_glyco_Abeta,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors APP HGNC ENSG00000142192 134 0 0 49 28 36.3636 CLDN17 0 genome.wustl.edu 37 21 31538754 31538754 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 21 31538754 31538754 C T SNP CLDN17 ENST00000286808 human ensembl 74_37 -1 known missense c.182 p.R61Q 0.255 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin14,prints_Claudin8 - no_errors CLDN17 HGNC ENSG00000156282 140 0 0 18 52 74.2857 KRTAP20-2 0 genome.wustl.edu 37 21 32007684 32007684 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 21 32007684 32007684 C T SNP KRTAP20-2 ENST00000330798 human ensembl 74_37 +1 known silent c.102 p.G34 0.017 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP20-2 HGNC ENSG00000184032 200 0 0 67 36 34.9515 RUNX1 0 genome.wustl.edu 37 21 36171665 36171665 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 21 36171665 36171665 C T SNP RUNX1 ENST00000300305 human ensembl 74_37 -1 known silent c.900 p.T300 0.039 pirsf_TF_Runt-rel_RUNX pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX1 HGNC ENSG00000159216 171 0 0 140 25 15.1515 TRAPPC10 0 genome.wustl.edu 37 21 45504008 45504008 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 21 45504008 45504008 G T SNP TRAPPC10 ENST00000291574 human ensembl 74_37 +1 known missense c.2244 p.K748N 1.000 NULL NULL - no_errors TRAPPC10 HGNC ENSG00000160218 55 0 0 20 7 25.9259 ADARB1 0 genome.wustl.edu 37 21 46596496 46596496 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 21 46596496 46596496 G A SNP ADARB1 ENST00000360697 human ensembl 74_37 +1 known missense c.880 p.A294T 1.000 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_A_deamin,pfam_dsRNA-bd_dom,superfamily_Cytokine_IL1-like,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADARB1 HGNC ENSG00000197381 149 0 0 41 23 35.9375 COL18A1 0 genome.wustl.edu 37 21 46888631 46888631 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 21 46888631 46888631 C T SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known silent c.1827 p.G609 0.005 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 40 0 0 13 7 35 SLC19A1 0 genome.wustl.edu 37 21 46951796 46951796 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 21 46951796 46951796 C T SNP SLC19A1 ENST00000311124 human ensembl 74_37 -1 known silent c.456 p.V152 1.000 pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A1 HGNC ENSG00000173638 12 0 0 2 3 60 DIP2A 0 genome.wustl.edu 37 21 47985786 47985786 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 21 47985786 47985786 C T SNP DIP2A ENST00000318711 human ensembl 74_37 +1 known missense c.4328 p.T1443I 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 214 0 0 79 50 38.7597 CECR6 0 genome.wustl.edu 37 22 17601186 17601186 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 17601186 17601186 C T SNP CECR6 ENST00000331437 human ensembl 74_37 -1 known missense c.832 p.A278T 0.966 NULL NULL - no_errors CECR6 HGNC ENSG00000183307 14 0 0 8 6 42.8571 CECR6 0 genome.wustl.edu 37 22 17601202 17601202 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 17601202 17601202 C T SNP CECR6 ENST00000331437 human ensembl 74_37 -1 known silent c.816 p.P272 0.993 NULL NULL - no_errors CECR6 HGNC ENSG00000183307 20 0 0 13 8 38.0952 CECR2 0 genome.wustl.edu 37 22 17976597 17976597 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 17976597 17976597 C T SNP CECR2 ENST00000400573 human ensembl 74_37 +1 novel silent c.318 p.D106 0.958 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 159 0 0 46 26 36.1111 TSSK2 0 genome.wustl.edu 37 22 19119916 19119916 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 19119916 19119916 A G SNP TSSK2 ENST00000399635 human ensembl 74_37 +1 known missense c.1004 p.D335G 0.298 NULL pfam_Prot_kinase_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_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TSSK2 HGNC ENSG00000206203 77 0 0 31 17 35.4167 GNB1L 0 genome.wustl.edu 37 22 19789618 19789618 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 19789618 19789618 T C SNP GNB1L ENST00000329517 human ensembl 74_37 -1 known missense c.638 p.D213G 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GNB1L HGNC ENSG00000185838 60 0 0 21 9 30 ZDHHC8 0 genome.wustl.edu 37 22 20130500 20130500 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 20130500 20130500 G T SNP ZDHHC8 ENST00000405930 human ensembl 74_37 +1 known missense c.1347 p.Q449H 0.971 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC8 HGNC ENSG00000099904 49 0 0 14 5 26.3158 AIFM3 0 genome.wustl.edu 37 22 21322240 21322240 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 21322240 21322240 G A SNP AIFM3 ENST00000399167 human ensembl 74_37 +1 known missense c.8 p.G3D 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2 - no_errors AIFM3 HGNC ENSG00000183773 108 0 0 25 19 43.1818 THAP7 0 genome.wustl.edu 37 22 21354389 21354389 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 21354389 21354389 G A SNP THAP7 ENST00000215742 human ensembl 74_37 -1 known missense c.710 p.A237V 0.992 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP7 HGNC ENSG00000184436 36 0 0 18 3 14.2857 HIC2 0 genome.wustl.edu 37 22 21800451 21800451 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 21800451 21800451 G A SNP HIC2 ENST00000407464 human ensembl 74_37 +1 known missense c.1267 p.A423T 0.996 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC2 HGNC ENSG00000169635 188 0 0 53 34 39.0805 PPM1F 0 genome.wustl.edu 37 22 22285617 22285617 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 22285617 22285617 G A SNP PPM1F ENST00000263212 human ensembl 74_37 -1 known missense c.794 p.A265V 0.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1F HGNC ENSG00000100034 105 0 0 53 8 13.1148 C22orf43 0 genome.wustl.edu 37 22 23968220 23968220 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 23968220 23968220 C T SNP C22orf43 ENST00000317749 human ensembl 74_37 -1 known missense c.224 p.R75H 0.002 NULL NULL - no_errors C22orf43 HGNC ENSG00000189269 125 0 0 57 16 21.9178 SLC2A11 0 genome.wustl.edu 37 22 24219298 24219298 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 24219298 24219298 C T SNP SLC2A11 ENST00000398356 human ensembl 74_37 +1 known missense c.497 p.A166V 0.956 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A11 HGNC ENSG00000133460 153 0 0 86 18 17.3077 CABIN1 0 genome.wustl.edu 37 22 24483489 24483489 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 24483489 24483489 G A SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known silent c.3348 p.G1116 0.805 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 82 0 0 56 25 30.8642 CABIN1 0 genome.wustl.edu 37 22 24573493 24573493 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 24573493 24573493 C T SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known missense c.6227 p.P2076L 0.000 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 143 0 0 100 18 15.2542 SUSD2 0 genome.wustl.edu 37 22 24580178 24580178 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 24580178 24580178 G A SNP SUSD2 ENST00000358321 human ensembl 74_37 +1 known missense c.514 p.A172T 0.035 NULL pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Sushi_SCR_CCP,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD2 HGNC ENSG00000099994 123 0 0 59 21 26.25 GGT5 0 genome.wustl.edu 37 22 24628050 24628050 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 24628050 24628050 G A SNP GGT5 ENST00000398292 human ensembl 74_37 -1 known silent c.723 p.G241 0.504 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT5 HGNC ENSG00000099998 33 0 0 31 9 22.5 SGSM1 0 genome.wustl.edu 37 22 25297812 25297812 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 25297812 25297812 G A SNP SGSM1 ENST00000400359 human ensembl 74_37 +1 known missense c.2788 p.D930N 1.000 superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 29 0 0 16 3 15.7895 MYO18B 0 genome.wustl.edu 37 22 26423175 26423175 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 26423175 26423175 C A SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.7235 p.A2412D 0.806 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 172 0 0 125 29 18.8312 CRYBB1 0 genome.wustl.edu 37 22 26995521 26995521 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 26995521 26995521 C T SNP CRYBB1 ENST00000215939 human ensembl 74_37 -1 known missense c.692 p.R231H 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBB1 HGNC ENSG00000100122 112 0 0 68 17 20 MN1 0 genome.wustl.edu 37 22 28193535 28193535 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 28193535 28193535 C T SNP MN1 ENST00000302326 human ensembl 74_37 -1 known silent c.2997 p.T999 0.883 NULL NULL - no_errors MN1 HGNC ENSG00000169184 78 0 0 67 16 19.2771 RHBDD3 0 genome.wustl.edu 37 22 29656789 29656789 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 29656789 29656789 G A SNP RHBDD3 ENST00000216085 human ensembl 74_37 -1 known silent c.597 p.G199 0.000 NULL pfam_Peptidase_S54_rhomboid_dom,superfamily_UBA-like - no_errors RHBDD3 HGNC ENSG00000100263 13 0 0 17 11 39.2857 AP1B1 0 genome.wustl.edu 37 22 29737717 29737717 + Silent SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 29737717 29737717 G T SNP AP1B1 ENST00000357586 human ensembl 74_37 -1 known silent c.1569 p.G523 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP1B1 HGNC ENSG00000100280 61 0 0 63 13 17.1053 MTMR3 0 genome.wustl.edu 37 22 30415613 30415613 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 30415613 30415613 C T SNP MTMR3 ENST00000401950 human ensembl 74_37 +1 known silent c.1965 p.G655 0.001 NULL pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors MTMR3 HGNC ENSG00000100330 190 0 0 137 25 15.4321 TBC1D10A 0 genome.wustl.edu 37 22 30688804 30688804 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 30688804 30688804 G A SNP TBC1D10A ENST00000215790 human ensembl 74_37 -1 known missense c.1087 p.R363C 0.998 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10A HGNC ENSG00000099992 89 0 0 51 11 17.7419 SMTN 0 genome.wustl.edu 37 22 31487683 31487683 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 31487683 31487683 G A SNP SMTN ENST00000347557 human ensembl 74_37 +1 known silent c.1482 p.A494 0.881 NULL pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 65 0 0 47 5 9.61538 HMGXB4 0 genome.wustl.edu 37 22 35661161 35661161 + Silent SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 35661161 35661161 A G SNP HMGXB4 ENST00000216106 human ensembl 74_37 +1 known silent c.780 p.S260 0.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGXB4 HGNC ENSG00000100281 83 0 0 93 19 16.9643 MPST 0 genome.wustl.edu 37 22 37425350 37425350 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 37425350 37425350 G A SNP MPST ENST00000397129 human ensembl 74_37 +1 known missense c.749 p.R250H 0.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors MPST HGNC ENSG00000128309 85 0 0 59 13 18.0556 TMPRSS6 0 genome.wustl.edu 37 22 37466617 37466617 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 37466617 37466617 G T SNP TMPRSS6 ENST00000381792 human ensembl 74_37 -1 known missense c.1748 p.A583D 1.000 pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS6 HGNC ENSG00000187045 125 0 0 79 22 21.7822 SOX10 0 genome.wustl.edu 37 22 38369822 38369822 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 38369822 38369822 C T SNP SOX10 ENST00000360880 human ensembl 74_37 -1 known missense c.1081 p.A361T 0.898 NULL pfam_Sox_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX10 HGNC ENSG00000100146 90 0 0 48 10 17.2414 PLA2G6 0 genome.wustl.edu 37 22 38528935 38528935 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 38528935 38528935 C T SNP PLA2G6 ENST00000332509 human ensembl 74_37 -1 known missense c.980 p.R327H 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Patatin/PLipase_A2-rel,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PLA2G6 HGNC ENSG00000184381 8 0 0 3 5 62.5 ENSG00000228274 0 genome.wustl.edu 37 22 39066881 39066881 + RNA SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 39066881 39066881 G A SNP ENSG00000228274 ENST00000444381 human ensembl 74_37 -1 known rna NULL NULL 0.183 - - - no_errors RP3-508I15.9 Clone_based_vega_gene ENSG00000228274 166 0 0 123 35 22.1519 SUN2 0 genome.wustl.edu 37 22 39134698 39134698 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 39134698 39134698 C T SNP SUN2 ENST00000216064 human ensembl 74_37 -1 known missense c.1841 p.R614H 1.000 pfam_Sad1_UNC_C,superfamily_Galactose-bd-like pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN2 HGNC ENSG00000100242 174 0 0 88 60 40.5405 MIEF1 0 genome.wustl.edu 37 22 39908309 39908309 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 39908309 39908309 G A SNP MIEF1 ENST00000325301 human ensembl 74_37 +1 known missense c.395 p.R132H 1.000 NULL NULL - no_errors MIEF1 HGNC ENSG00000100335 104 0 0 41 32 43.8356 SGSM3 0 genome.wustl.edu 37 22 40803271 40803271 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 40803271 40803271 G T SNP SGSM3 ENST00000248929 human ensembl 74_37 +1 known missense c.1307 p.R436L 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_Rab-GTPase-TBC_dom,superfamily_SH3_domain,smart_Rab-GTPase-TBC_dom,smart_SH3_domain,smart_Run,pfscan_Run,pfscan_SH3_domain,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM3 HGNC ENSG00000100359 113 1 0.877193 76 25 24.7525 PMM1 0 genome.wustl.edu 37 22 41980050 41980050 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 41980050 41980050 G A SNP PMM1 ENST00000216259 human ensembl 74_37 -1 known silent c.387 p.I129 0.923 pfam_PMM,pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB pfam_PMM,pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB - no_errors PMM1 HGNC ENSG00000100417 147 0 0 114 23 16.7883 RRP7B 0 genome.wustl.edu 37 22 42973171 42973171 + RNA SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 42973171 42973171 G A SNP RRP7B ENST00000421116 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RRP7B HGNC ENSG00000182841 50 0 0 30 9 23.0769 ARFGAP3 0 genome.wustl.edu 37 22 43231437 43231437 + Silent SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 43231437 43231437 A G SNP ARFGAP3 ENST00000263245 human ensembl 74_37 -1 known silent c.324 p.R108 0.022 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP3 HGNC ENSG00000242247 106 0 0 73 9 10.9756 PARVB 0 genome.wustl.edu 37 22 44515734 44515734 + RNA SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 44515734 44515734 G A SNP PARVB ENST00000402876 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PARVB HGNC ENSG00000188677 51 0 0 18 6 25 FBLN1 0 genome.wustl.edu 37 22 45946477 45946477 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 45946477 45946477 A G SNP FBLN1 ENST00000327858 human ensembl 74_37 +1 known missense c.1679 p.Y560C 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Fibulin-1 pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN1 HGNC ENSG00000077942 127 0 0 122 10 7.57576 FBLN1 0 genome.wustl.edu 37 22 45970457 45970457 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 45970457 45970457 C T SNP FBLN1 ENST00000327858 human ensembl 74_37 +1 known silent c.1764 p.C588 0.997 pirsf_Fibulin-1 pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN1 HGNC ENSG00000077942 76 0 0 54 13 19.403 PKDREJ 0 genome.wustl.edu 37 22 46654556 46654556 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 46654556 46654556 T C SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known missense c.4664 p.H1555R 0.000 NULL pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 287 1 0.347222 175 53 23.2456 GTSE1 0 genome.wustl.edu 37 22 46724706 46724706 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 46724706 46724706 G A SNP GTSE1 ENST00000454366 human ensembl 74_37 +1 known missense c.1846 p.D616N 0.121 NULL NULL - no_errors GTSE1 HGNC ENSG00000075218 236 2 0.840336 177 46 20.6278 CELSR1 0 genome.wustl.edu 37 22 46773146 46773146 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 46773146 46773146 G A SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known silent c.7396 p.L2466 1.000 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 64 0 0 46 8 14.8148 CELSR1 0 genome.wustl.edu 37 22 46805670 46805670 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 46805670 46805670 C T SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.5041 p.G1681R 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 193 0 0 72 90 55.5556 FAM19A5 0 genome.wustl.edu 37 22 49103583 49103583 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 49103583 49103583 A G SNP FAM19A5 ENST00000358295 human ensembl 74_37 +1 known missense c.296 p.E99G 1.000 pfam_Chemokine-like_FAM19A2 pfam_Chemokine-like_FAM19A2 - no_errors FAM19A5 HGNC ENSG00000219438 130 0 0 118 10 7.8125 BRD1 0 genome.wustl.edu 37 22 50192336 50192336 + Splice_Site SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 50192336 50192336 T G SNP BRD1 ENST00000216267 human ensembl 74_37 -1 known splice_site c.1657-2 e4-2 1.000 - - - no_errors BRD1 HGNC ENSG00000100425 29 0 0 19 5 20.8333 PANX2 0 genome.wustl.edu 37 22 50615855 50615855 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 50615855 50615855 C T SNP PANX2 ENST00000395842 human ensembl 74_37 +1 known silent c.714 p.S238 0.999 pfam_Innexin,pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX2 HGNC ENSG00000073150 33 0 0 12 9 42.8571 TUBGCP6 0 genome.wustl.edu 37 22 50657578 50657578 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 50657578 50657578 C T SNP TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known silent c.4545 p.A1515 0.336 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 29 0 0 19 12 38.7097 TUBGCP6 0 genome.wustl.edu 37 22 50658670 50658670 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 50658670 50658670 C A SNP TUBGCP6 ENST00000439308 human ensembl 74_37 -1 known missense c.4118 p.R1373M 0.002 NULL pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 58 0 0 35 7 16.6667 TUBGCP6 0 genome.wustl.edu 37 22 50659740 50659740 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 50659740 50659740 C A SNP TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known missense c.3048 p.E1016D 0.001 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 74 0 0 56 13 18.8406 KLHDC7B 0 genome.wustl.edu 37 22 50988099 50988099 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 50988099 50988099 C T SNP KLHDC7B ENST00000395676 human ensembl 74_37 +1 known missense c.1504 p.R502W 1.000 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7B HGNC ENSG00000130487 109 0 0 101 28 21.7054 IMPG2 0 genome.wustl.edu 37 3 100951720 100951720 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 100951720 100951720 T G SNP IMPG2 ENST00000193391 human ensembl 74_37 -1 known missense c.3138 p.E1046D 0.991 pfscan_EG-like_dom pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG2 HGNC ENSG00000081148 97 0 0 33 18 35.2941 ATP2B2 0 genome.wustl.edu 37 3 10401790 10401790 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 10401790 10401790 G A SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known silent c.1677 p.G559 0.013 superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B2 HGNC ENSG00000157087 104 0 0 10 31 75.6098 DZIP3 0 genome.wustl.edu 37 3 108405322 108405322 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 108405322 108405322 C T SNP DZIP3 ENST00000361582 human ensembl 74_37 +1 known missense c.3040 p.P1014S 0.946 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC ENSG00000198919 238 0 0 80 48 37.5 CCDC80 0 genome.wustl.edu 37 3 112358362 112358362 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 112358362 112358362 G A SNP CCDC80 ENST00000206423 human ensembl 74_37 -1 known missense c.391 p.R131C 1.000 NULL NULL - no_errors CCDC80 HGNC ENSG00000091986 191 0 0 57 35 38.0435 ZBTB20 0 genome.wustl.edu 37 3 114069396 114069396 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 114069396 114069396 G A SNP ZBTB20 ENST00000474710 human ensembl 74_37 -1 known missense c.1529 p.A510V 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 125 0 0 46 15 24.5902 VGLL4 0 genome.wustl.edu 37 3 11600086 11600086 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 11600086 11600086 C T SNP VGLL4 ENST00000430365 human ensembl 74_37 -1 known missense c.835 p.A279T 0.003 NULL smart_TDU_repeat - no_errors VGLL4 HGNC ENSG00000144560 142 0 0 63 19 23.1707 IGSF11 0 genome.wustl.edu 37 3 118649028 118649028 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 118649028 118649028 G A SNP IGSF11 ENST00000393775 human ensembl 74_37 -1 known silent c.147 p.S49 0.360 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF11 HGNC ENSG00000144847 186 0 0 61 35 36.4583 ARHGAP31 0 genome.wustl.edu 37 3 119134425 119134425 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 119134425 119134425 C T SNP ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known missense c.3649 p.P1217S 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 89 0 0 27 23 46 TMEM39A 0 genome.wustl.edu 37 3 119165880 119165880 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 119165880 119165880 A G SNP TMEM39A ENST00000319172 human ensembl 74_37 -1 known missense c.560 p.L187P 1.000 pfam_Uncharacterised_TMEM39 pfam_Uncharacterised_TMEM39 - no_errors TMEM39A HGNC ENSG00000176142 78 0 0 37 9 19.5652 PLA1A 0 genome.wustl.edu 37 3 119325738 119325738 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 119325738 119325738 G T SNP PLA1A ENST00000273371 human ensembl 74_37 +1 known missense c.191 p.G64V 1.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors PLA1A HGNC ENSG00000144837 303 0 0 105 58 35.5828 CASR 0 genome.wustl.edu 37 3 122003039 122003039 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 122003039 122003039 G A SNP CASR ENST00000498619 human ensembl 74_37 +1 known silent c.2268 p.A756 0.440 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 85 0 0 27 14 34.1463 CASR 0 genome.wustl.edu 37 3 122003716 122003716 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 122003716 122003716 C T SNP CASR ENST00000498619 human ensembl 74_37 +1 known missense c.2945 p.T982M 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 68 0 0 36 3 7.69231 PARP15 0 genome.wustl.edu 37 3 122345739 122345739 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 122345739 122345739 T C SNP PARP15 ENST00000464300 human ensembl 74_37 +1 known missense c.1297 p.S433P 0.000 pfscan_Macro_dom pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP15 HGNC ENSG00000173200 90 0 0 44 3 6.38298 SEMA5B 0 genome.wustl.edu 37 3 122641164 122641164 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 122641164 122641164 C T SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known missense c.1565 p.S522N 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 36 0 0 15 11 42.3077 HEG1 0 genome.wustl.edu 37 3 124746246 124746246 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 124746246 124746246 G A SNP HEG1 ENST00000311127 human ensembl 74_37 -1 known missense c.716 p.A239V 0.000 NULL pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HEG1 HGNC ENSG00000173706 58 0 0 14 6 30 CCDC37 0 genome.wustl.edu 37 3 126154472 126154472 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 126154472 126154472 G A SNP CCDC37 ENST00000393425 human ensembl 74_37 +1 known missense c.1702 p.A568T 1.000 NULL superfamily_SuperAg_toxin_C - no_errors CCDC37 HGNC ENSG00000163885 45 0 0 22 21 48.8372 CNTN6 0 genome.wustl.edu 37 3 1262392 1262392 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 1262392 1262392 C A SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.77 p.P26H 0.960 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 88 0 0 38 12 24 PLXNA1 0 genome.wustl.edu 37 3 126735456 126735456 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 126735456 126735456 C T SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known silent c.3111 p.N1037 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 152 0 0 50 5 9.09091 PLXNA1 0 genome.wustl.edu 37 3 126741057 126741057 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 126741057 126741057 G A SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known missense c.4168 p.A1390T 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 42 0 0 16 3 15.7895 RUVBL1 0 genome.wustl.edu 37 3 127816207 127816207 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 127816207 127816207 C T SNP RUVBL1 ENST00000322623 human ensembl 74_37 -1 known missense c.952 p.A318T 1.000 pfam_TIP49_C,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_TIP49_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase - no_errors RUVBL1 HGNC ENSG00000175792 64 0 0 16 14 46.6667 FAM86HP 0 genome.wustl.edu 37 3 129821650 129821650 + RNA SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 129821650 129821650 G A SNP FAM86HP ENST00000511564 human ensembl 74_37 -1 known rna NULL NULL 0.945 - - - no_errors FAM86HP HGNC ENSG00000253540 163 0 0 77 5 6.09756 PIK3R4 0 genome.wustl.edu 37 3 130400353 130400353 + Silent SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 130400353 130400353 T G SNP PIK3R4 ENST00000356763 human ensembl 74_37 -1 known silent c.3690 p.P1230 0.005 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Prot_kinase_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PIK3R4 HGNC ENSG00000196455 128 0 0 66 9 12 PIK3R4 0 genome.wustl.edu 37 3 130452966 130452966 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 130452966 130452966 C A SNP PIK3R4 ENST00000356763 human ensembl 74_37 -1 known missense c.876 p.Q292H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PIK3R4 HGNC ENSG00000196455 119 0 0 44 6 12 UBA5 0 genome.wustl.edu 37 3 132394093 132394093 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 132394093 132394093 T G SNP UBA5 ENST00000356232 human ensembl 74_37 +1 known missense c.814 p.F272V 1.000 superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB - no_errors UBA5 HGNC ENSG00000081307 41 0 0 14 5 26.3158 TOPBP1 0 genome.wustl.edu 37 3 133377884 133377884 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 133377884 133377884 G A SNP TOPBP1 ENST00000260810 human ensembl 74_37 -1 known silent c.195 p.G65 0.018 superfamily_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 20 0 0 3 6 66.6667 TF 0 genome.wustl.edu 37 3 133485235 133485235 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 133485235 133485235 C A SNP TF ENST00000402696 human ensembl 74_37 +1 known missense c.1444 p.P482T 1.000 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors TF HGNC ENSG00000091513 280 0 0 80 41 33.8843 NUP210 0 genome.wustl.edu 37 3 13372108 13372108 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 13372108 13372108 C T SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known missense c.3962 p.R1321H 0.837 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 132 0 0 56 5 8.19672 AMOTL2 0 genome.wustl.edu 37 3 134078146 134078146 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 134078146 134078146 C T SNP AMOTL2 ENST00000249883 human ensembl 74_37 -1 known missense c.2083 p.A695T 0.334 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL2 HGNC ENSG00000114019 164 0 0 52 33 38.8235 NUP210 0 genome.wustl.edu 37 3 13429924 13429924 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 13429924 13429924 A G SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known missense c.563 p.I188T 0.806 superfamily_Cadherin-like pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 65 0 0 41 3 6.81818 EPHB1 0 genome.wustl.edu 37 3 134880956 134880956 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 134880956 134880956 C T SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.1519 p.R507C 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 127 0 0 68 4 5.55556 HDAC11 0 genome.wustl.edu 37 3 13542247 13542247 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 13542247 13542247 C T SNP HDAC11 ENST00000433119 human ensembl 74_37 +1 putative missense c.320 p.A107V 0.977 NULL pfam_His_deacetylse_dom - no_errors HDAC11 HGNC ENSG00000163517 25 0 0 8 3 27.2727 STAG1 0 genome.wustl.edu 37 3 136287655 136287655 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 136287655 136287655 C T SNP STAG1 ENST00000383202 human ensembl 74_37 -1 known missense c.346 p.A116T 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 50 0 0 18 9 33.3333 ESYT3 0 genome.wustl.edu 37 3 138170891 138170891 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 138170891 138170891 T G SNP ESYT3 ENST00000389567 human ensembl 74_37 +1 known missense c.329 p.I110S 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom - no_errors ESYT3 HGNC ENSG00000158220 89 0 0 36 9 20 U2SURP 0 genome.wustl.edu 37 3 142741774 142741774 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 142741774 142741774 G A SNP U2SURP ENST00000473835 human ensembl 74_37 +1 known silent c.1098 p.P366 0.117 NULL pfam_Surp,pfam_RRM_dom,superfamily_Surp,superfamily_ENTH_VHS,smart_RRM_dom,smart_Surp,smart_CID_dom,pfscan_Surp,pfscan_RRM_dom - no_errors U2SURP HGNC ENSG00000163714 26 0 0 11 6 35.2941 ZFYVE20 0 genome.wustl.edu 37 3 15115947 15115947 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 15115947 15115947 C T SNP ZFYVE20 ENST00000253699 human ensembl 74_37 -1 known missense c.1697 p.R566H 0.000 NULL pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors ZFYVE20 HGNC ENSG00000131381 88 0 0 17 9 34.6154 IGSF10 0 genome.wustl.edu 37 3 151165718 151165718 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 151165718 151165718 G A SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.2051 p.S684F 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 77 0 0 35 18 33.9623 COLQ 0 genome.wustl.edu 37 3 15529720 15529720 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 15529720 15529720 C T SNP COLQ ENST00000383788 human ensembl 74_37 -1 known missense c.314 p.G105D 0.996 pfam_Collagen pfam_Collagen,tigrfam_Myxo_disulph_rpt - no_errors COLQ HGNC ENSG00000206561 125 0 0 51 26 33.7662 SI 0 genome.wustl.edu 37 3 164793707 164793707 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 164793707 164793707 C T SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.94 p.A32T 1.000 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 145 0 0 49 26 34.6667 BCHE 0 genome.wustl.edu 37 3 165547369 165547369 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 165547369 165547369 T C SNP BCHE ENST00000264381 human ensembl 74_37 -1 known missense c.1453 p.T485A 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 119 0 0 19 45 70.3125 GOLIM4 0 genome.wustl.edu 37 3 167759195 167759195 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 167759195 167759195 C T SNP GOLIM4 ENST00000470487 human ensembl 74_37 -1 known silent c.585 p.Q195 1.000 NULL NULL - no_errors GOLIM4 HGNC ENSG00000173905 39 0 0 8 6 42.8571 MECOM 0 genome.wustl.edu 37 3 169099149 169099149 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 169099149 169099149 G A SNP MECOM ENST00000494292 human ensembl 74_37 -1 known silent c.201 p.P67 1.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC ENSG00000085276 144 1 0.689655 60 39 39.3939 NLGN1 0 genome.wustl.edu 37 3 173322476 173322476 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 173322476 173322476 A G SNP NLGN1 ENST00000401917 human ensembl 74_37 +1 known missense c.88 p.T30A 1.000 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 181 0 0 78 33 29.7297 NAALADL2 0 genome.wustl.edu 37 3 175520895 175520895 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 175520895 175520895 A C SNP NAALADL2 ENST00000454872 human ensembl 74_37 +1 known missense c.2292 p.E764D 0.990 superfamily_TFR-like_dimer_dom superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC ENSG00000177694 58 0 0 19 6 24 PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 74_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_dom,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 ENSG00000121879 83 0 0 29 17 36.9565 YEATS2 0 genome.wustl.edu 37 3 183493773 183493773 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 183493773 183493773 C T SNP YEATS2 ENST00000305135 human ensembl 74_37 +1 known silent c.2439 p.G813 0.002 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ENSG00000163872 66 0 0 20 12 37.5 ABCC5 0 genome.wustl.edu 37 3 183703133 183703133 + Nonstop_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 183703133 183703133 A G SNP ABCC5 ENST00000382494 human ensembl 74_37 -1 putative nonstop c.625 p.*209R 1.000 NULL NULL - no_errors ABCC5 HGNC ENSG00000114770 231 0 0 120 7 5.51181 DVL3 0 genome.wustl.edu 37 3 183885375 183885375 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 183885375 183885375 C T SNP DVL3 ENST00000313143 human ensembl 74_37 +1 known silent c.1206 p.D402 0.276 NULL pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam,prints_Dishevelled_3 - no_errors DVL3 HGNC ENSG00000161202 82 0 0 34 3 8.10811 EIF4G1 0 genome.wustl.edu 37 3 184039599 184039599 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 184039599 184039599 G A SNP EIF4G1 ENST00000352767 human ensembl 74_37 +1 known silent c.1248 p.S416 0.771 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 517 0 0 151 82 35.1931 IGF2BP2 0 genome.wustl.edu 37 3 185404892 185404892 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 185404892 185404892 G A SNP IGF2BP2 ENST00000382199 human ensembl 74_37 -1 known silent c.765 p.C255 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP2 HGNC ENSG00000073792 175 0 0 90 17 15.8879 TP63 0 genome.wustl.edu 37 3 189456514 189456514 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 189456514 189456514 G T SNP TP63 ENST00000264731 human ensembl 74_37 +1 known missense c.275 p.S92I 1.000 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC ENSG00000073282 84 0 0 38 16 29.6296 ATP13A4 0 genome.wustl.edu 37 3 193130155 193130155 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 193130155 193130155 C T SNP ATP13A4 ENST00000342695 human ensembl 74_37 -1 known missense c.3020 p.C1007Y 0.959 tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A4 HGNC ENSG00000127249 253 0 0 88 48 35.2941 PIGZ 0 genome.wustl.edu 37 3 196675379 196675379 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 196675379 196675379 C T SNP PIGZ ENST00000412723 human ensembl 74_37 -1 known missense c.389 p.R130Q 0.897 pfam_GPI_mannosylTrfase pfam_GPI_mannosylTrfase - no_errors PIGZ HGNC ENSG00000119227 31 0 0 15 2 11.7647 MFI2 0 genome.wustl.edu 37 3 196736677 196736677 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 196736677 196736677 T C SNP MFI2 ENST00000296350 human ensembl 74_37 -1 known missense c.1337 p.D446G 0.986 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors MFI2 HGNC ENSG00000163975 98 0 0 28 17 37.7778 RBMS3 0 genome.wustl.edu 37 3 29781216 29781216 + Missense_Mutation SNP A A T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 29781216 29781216 A T SNP RBMS3 ENST00000383767 human ensembl 74_37 +1 known missense c.405 p.Q135H 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors RBMS3 HGNC ENSG00000144642 178 0 0 32 70 68.6275 CLASP2 0 genome.wustl.edu 37 3 33618718 33618718 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 33618718 33618718 C A SNP CLASP2 ENST00000480013 human ensembl 74_37 -1 known missense c.1687 p.A563S 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,superfamily_ARM-type_fold - no_errors CLASP2 HGNC ENSG00000163539 74 0 0 22 13 37.1429 MYD88 0 genome.wustl.edu 37 3 38181461 38181461 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 38181461 38181461 G A SNP MYD88 ENST00000417037 human ensembl 74_37 +1 known silent c.474 p.A158 0.000 pirsf_Myelin_different_resp_MyD88 pfam_TIR_dom,pfam_Death_domain,superfamily_DEATH-like_dom,superfamily_TIR_dom,smart_Death_domain,smart_TIR_dom,pirsf_Myelin_different_resp_MyD88,pfscan_Death_domain,pfscan_TIR_dom - no_errors MYD88 HGNC ENSG00000172936 36 0 0 19 4 17.3913 SCN5A 0 genome.wustl.edu 37 3 38592060 38592060 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 38592060 38592060 C T SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.5803 p.G1935S 0.452 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 63 0 0 19 13 40.625 XIRP1 0 genome.wustl.edu 37 3 39226157 39226157 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 39226157 39226157 C T SNP XIRP1 ENST00000340369 human ensembl 74_37 -1 known missense c.4780 p.A1594T 0.936 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 327 0 0 112 53 32.1212 XIRP1 0 genome.wustl.edu 37 3 39227573 39227573 + Silent SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 39227573 39227573 T G SNP XIRP1 ENST00000340369 human ensembl 74_37 -1 known silent c.3364 p.R1122 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 184 0 0 60 21 25.9259 XIRP1 0 genome.wustl.edu 37 3 39228162 39228162 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 39228162 39228162 G A SNP XIRP1 ENST00000340369 human ensembl 74_37 -1 known silent c.2775 p.S925 0.987 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 109 0 0 34 17 33.3333 CHL1 0 genome.wustl.edu 37 3 440833 440833 + Splice_Site SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 440833 440833 T C SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known splice_site c.3385+2 e24+2 1.000 - - - no_errors CHL1 HGNC ENSG00000134121 94 0 0 42 7 14.2857 CCR3 0 genome.wustl.edu 37 3 46306955 46306955 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 46306955 46306955 C T SNP CCR3 ENST00000545097 human ensembl 74_37 +1 known silent c.369 p.G123 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR3,prints_Chemokine_CCR1 - no_errors CCR3 HGNC ENSG00000183625 331 0 0 105 61 36.747 NBEAL2 0 genome.wustl.edu 37 3 47046018 47046018 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 47046018 47046018 T C SNP NBEAL2 ENST00000450053 human ensembl 74_37 +1 known missense c.6232 p.Y2078H 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom 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 NBEAL2 HGNC ENSG00000160796 100 0 0 23 16 41.0256 ITPR1 0 genome.wustl.edu 37 3 4829772 4829772 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 4829772 4829772 C A SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known missense c.6712 p.L2238M 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 20 0 0 2 4 66.6667 COL7A1 0 genome.wustl.edu 37 3 48602399 48602399 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 48602399 48602399 G A SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known missense c.8635 p.P2879S 0.995 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 144 0 0 38 24 38.7097 KLHDC8B 0 genome.wustl.edu 37 3 49213186 49213186 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 49213186 49213186 G T SNP KLHDC8B ENST00000332780 human ensembl 74_37 +1 known missense c.1017 p.Q339H 1.000 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC8B HGNC ENSG00000185909 91 0 0 43 15 25.8621 IP6K1 0 genome.wustl.edu 37 3 49764749 49764749 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 49764749 49764749 G T SNP IP6K1 ENST00000321599 human ensembl 74_37 -1 known missense c.1132 p.P378T 0.995 pfam_IPK pfam_IPK - no_errors IP6K1 HGNC ENSG00000176095 85 0 0 23 18 43.9024 CAMKV 0 genome.wustl.edu 37 3 49899799 49899799 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 49899799 49899799 A G SNP CAMKV ENST00000477224 human ensembl 74_37 -1 known missense c.23 p.L8P 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_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_dom - no_errors CAMKV HGNC ENSG00000164076 118 0 0 29 20 40.8163 MST1R 0 genome.wustl.edu 37 3 49936067 49936067 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 49936067 49936067 G A SNP MST1R ENST00000296474 human ensembl 74_37 -1 known missense c.1603 p.R535C 0.153 pirsf_Tyr_kinase_HGF/MSP_rcpt,superfamily_Plexin-like_fold,smart_Plexin-like_fold pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MST1R HGNC ENSG00000164078 146 0 0 41 18 30.5085 SEMA3F 0 genome.wustl.edu 37 3 50223449 50223449 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 50223449 50223449 C T SNP SEMA3F ENST00000002829 human ensembl 74_37 +1 known missense c.1715 p.A572V 1.000 superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3F HGNC ENSG00000001617 146 1 0.680272 38 17 30.9091 RBM15B 0 genome.wustl.edu 37 3 51429820 51429820 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 51429820 51429820 G T SNP RBM15B ENST00000323686 human ensembl 74_37 +1 known missense c.990 p.E330D 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15B HGNC ENSG00000179837 101 0 0 30 21 41.1765 ABHD14A 0 genome.wustl.edu 37 3 52011901 52011901 + Silent SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 52011901 52011901 C A SNP ABHD14A ENST00000273596 human ensembl 74_37 +1 known silent c.84 p.T28 0.087 NULL pfam_Lysophospholipase_put - no_errors ABHD14A HGNC ENSG00000248487 327 0 0 158 12 7.05882 STAB1 0 genome.wustl.edu 37 3 52554519 52554519 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 52554519 52554519 G A SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.5603 p.G1868D 0.999 superfamily_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 54 0 0 17 10 37.037 CACNA2D3 0 genome.wustl.edu 37 3 54596848 54596848 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 54596848 54596848 T G SNP CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known missense c.566 p.V189G 1.000 pfam_VWA_N pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 24 0 0 17 10 37.037 IL17RD 0 genome.wustl.edu 37 3 57132349 57132349 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 57132349 57132349 A G SNP IL17RD ENST00000296318 human ensembl 74_37 -1 known missense c.1382 p.L461P 1.000 pfam_SEFIR pfam_SEFIR,superfamily_TIR_dom - no_errors IL17RD HGNC ENSG00000144730 91 0 0 33 17 34 DNAH12 0 genome.wustl.edu 37 3 57496515 57496515 + Splice_Site SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 57496515 57496515 A G SNP DNAH12 ENST00000351747 human ensembl 74_37 -1 known splice_site c.469+2 e4+2 1.000 - - - no_errors DNAH12 HGNC ENSG00000174844 58 0 0 16 6 27.2727 ADAMTS9-AS1 0 genome.wustl.edu 37 3 64547208 64547208 + RNA SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 64547208 64547208 G A SNP ADAMTS9-AS1 ENST00000470447 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ADAMTS9-AS1 HGNC ENSG00000241158 58 0 0 29 5 14.7059 LRIG1 0 genome.wustl.edu 37 3 66434674 66434674 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 66434674 66434674 C T SNP LRIG1 ENST00000273261 human ensembl 74_37 -1 known silent c.1812 p.T604 0.493 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG1 HGNC ENSG00000144749 371 0 0 145 60 29.2683 KBTBD8 0 genome.wustl.edu 37 3 67058677 67058677 + Silent SNP T T A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 67058677 67058677 T A SNP KBTBD8 ENST00000417314 human ensembl 74_37 +1 known silent c.1674 p.L558 1.000 pirsf_Kelch-like_gigaxonin pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD8 HGNC ENSG00000163376 127 0 0 57 32 35.9551 LMCD1 0 genome.wustl.edu 37 3 8590439 8590439 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 8590439 8590439 C T SNP LMCD1 ENST00000157600 human ensembl 74_37 +1 known silent c.573 p.S191 0.888 pfam_PET_domain pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMCD1 HGNC ENSG00000071282 168 0 0 56 22 28.2051 THUMPD3 0 genome.wustl.edu 37 3 9413197 9413197 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 9413197 9413197 G A SNP THUMPD3 ENST00000345094 human ensembl 74_37 +1 known missense c.784 p.D262N 1.000 pfam_THUMP,smart_THUMP,pfscan_THUMP pfam_RNA_methylase_dom,pfam_THUMP,smart_THUMP,pfscan_THUMP - no_errors THUMPD3 HGNC ENSG00000134077 236 1 0.421941 85 37 30.3279 THUMPD3 0 genome.wustl.edu 37 3 9426223 9426223 + Nonsense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 9426223 9426223 C T SNP THUMPD3 ENST00000345094 human ensembl 74_37 +1 known nonsense c.1375 p.R459* 1.000 pfam_RNA_methylase_dom pfam_RNA_methylase_dom,pfam_THUMP,smart_THUMP,pfscan_THUMP - no_errors THUMPD3 HGNC ENSG00000134077 310 0 0 96 61 38.8535 SETD5 0 genome.wustl.edu 37 3 9512217 9512217 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 9512217 9512217 A C SNP SETD5 ENST00000402198 human ensembl 74_37 +1 known missense c.2799 p.R933S 0.999 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SETD5 HGNC ENSG00000168137 295 1 0.337838 96 40 29.4118 BRPF1 0 genome.wustl.edu 37 3 9776020 9776020 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 9776020 9776020 C T SNP BRPF1 ENST00000383829 human ensembl 74_37 +1 known missense c.196 p.R66C 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 245 0 0 85 35 29.1667 BRPF1 0 genome.wustl.edu 37 3 9776030 9776030 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 9776030 9776030 G A SNP BRPF1 ENST00000383829 human ensembl 74_37 +1 known missense c.206 p.R69H 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 259 0 0 81 37 31.3559 BANK1 0 genome.wustl.edu 37 4 102946459 102946459 + Nonsense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 102946459 102946459 G T SNP BANK1 ENST00000322953 human ensembl 74_37 +1 known nonsense c.1387 p.G463* 0.000 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors BANK1 HGNC ENSG00000153064 138 0 0 49 3 5.76923 MANBA 0 genome.wustl.edu 37 4 103644044 103644044 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 103644044 103644044 A G SNP MANBA ENST00000226578 human ensembl 74_37 -1 known missense c.533 p.V178A 1.000 pfam_Glyco_hydro_2_N,superfamily_Galactose-bd-like pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like - no_errors MANBA HGNC ENSG00000109323 129 0 0 53 28 34.5679 ENSG00000265522 0 genome.wustl.edu 37 4 109710404 109710404 + RNA SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 109710404 109710404 G T SNP ENSG00000265522 ENST00000581341 human ensembl 74_37 -1 novel rna NULL NULL 0.990 - - - no_errors AC097473.1 Clone_based_ensembl_gene ENSG00000265522 33 0 0 17 12 41.3793 TIFA 0 genome.wustl.edu 37 4 113199100 113199100 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 113199100 113199100 C A SNP TIFA ENST00000361717 human ensembl 74_37 -1 known missense c.473 p.R158M 0.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,pfscan_FHA_dom - no_errors TIFA HGNC ENSG00000145365 58 0 0 20 9 31.0345 NDST3 0 genome.wustl.edu 37 4 119145777 119145777 + Silent SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 119145777 119145777 G T SNP NDST3 ENST00000296499 human ensembl 74_37 +1 known silent c.1671 p.L557 1.000 NULL pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST3 HGNC ENSG00000164100 89 0 0 29 17 36.9565 USP53 0 genome.wustl.edu 37 4 120161049 120161049 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 120161049 120161049 C T SNP USP53 ENST00000274030 human ensembl 74_37 +1 known silent c.135 p.S45 0.993 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP53 HGNC ENSG00000145390 49 0 0 20 11 35.4839 MAD2L1 0 genome.wustl.edu 37 4 120987858 120987858 + Missense_Mutation SNP A A T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 120987858 120987858 A T SNP MAD2L1 ENST00000296509 human ensembl 74_37 -1 known missense c.32 p.I11N 1.000 superfamily_HORMA_DNA-bd pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd - no_errors MAD2L1 HGNC ENSG00000164109 78 0 0 20 15 42.8571 FAT4 0 genome.wustl.edu 37 4 126242670 126242670 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 126242670 126242670 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.5104 p.A1702T 0.994 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 154 0 0 41 21 33.871 FAT4 0 genome.wustl.edu 37 4 126412700 126412700 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 126412700 126412700 C A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.14723 p.A4908E 0.475 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 76 0 0 25 17 40.4762 SCLT1 0 genome.wustl.edu 37 4 129864248 129864248 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 129864248 129864248 T C SNP SCLT1 ENST00000281142 human ensembl 74_37 -1 known missense c.1535 p.Q512R 1.000 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 86 0 0 47 10 17.5439 OTUD4 0 genome.wustl.edu 37 4 146059018 146059018 + Missense_Mutation SNP C C G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 146059018 146059018 C G SNP OTUD4 ENST00000447906 human ensembl 74_37 -1 known missense c.2909 p.R970T 0.264 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 260 0 0 116 8 6.45161 NR3C2 0 genome.wustl.edu 37 4 149356865 149356865 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 149356865 149356865 G A SNP NR3C2 ENST00000355292 human ensembl 74_37 -1 known missense c.1148 p.A383V 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR3C2 HGNC ENSG00000151623 129 0 0 46 24 34.2857 MAB21L2 0 genome.wustl.edu 37 4 151504618 151504618 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 151504618 151504618 G T SNP MAB21L2 ENST00000317605 human ensembl 74_37 +1 known missense c.437 p.R146L 1.000 pfam_Mab-21_dom pfam_Mab-21_dom,pfscan_Ricin_B_lectin - no_errors MAB21L2 HGNC ENSG00000181541 170 0 0 69 37 34.9057 MND1 0 genome.wustl.edu 37 4 154335996 154335996 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 154335996 154335996 A G SNP MND1 ENST00000240488 human ensembl 74_37 +1 known missense c.605 p.D202G 1.000 pfam_Mnd1,pirsf_Mnd1 pfam_Mnd1,pfam_BlaI_family,pirsf_Mnd1 - no_errors MND1 HGNC ENSG00000121211 67 0 0 34 3 8.10811 FGA 0 genome.wustl.edu 37 4 155505924 155505924 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 155505924 155505924 C A SNP FGA ENST00000302053 human ensembl 74_37 -1 known missense c.1953 p.K651N 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGA HGNC ENSG00000171560 84 0 0 36 18 33.3333 RBM46 0 genome.wustl.edu 37 4 155720283 155720283 + Silent SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 155720283 155720283 T C SNP RBM46 ENST00000281722 human ensembl 74_37 +1 known silent c.969 p.I323 0.993 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM46 HGNC ENSG00000151962 79 0 0 16 20 55.5556 GLRB 0 genome.wustl.edu 37 4 158057767 158057767 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 158057767 158057767 A C SNP GLRB ENST00000264428 human ensembl 74_37 +1 known missense c.444 p.E148D 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRB HGNC ENSG00000109738 153 0 0 66 32 32.6531 CPE 0 genome.wustl.edu 37 4 166300498 166300498 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 166300498 166300498 G A SNP CPE ENST00000402744 human ensembl 74_37 +1 known missense c.125 p.R42Q 1.000 NULL pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPE HGNC ENSG00000109472 23 0 0 7 5 41.6667 GLRA3 0 genome.wustl.edu 37 4 175598420 175598420 + Nonsense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 175598420 175598420 G A SNP GLRA3 ENST00000274093 human ensembl 74_37 -1 known nonsense c.736 p.R246* 0.893 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_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA3 HGNC ENSG00000145451 57 0 0 18 11 37.931 NCAPG 0 genome.wustl.edu 37 4 17819570 17819570 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 17819570 17819570 T G SNP NCAPG ENST00000251496 human ensembl 74_37 +1 known missense c.977 p.I326S 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NCAPG HGNC ENSG00000109805 75 0 0 26 15 36.5854 TENM3 0 genome.wustl.edu 37 4 183675596 183675596 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 183675596 183675596 T C SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.4076 p.V1359A 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 19 0 0 4 5 55.5556 TENM3 0 genome.wustl.edu 37 4 183714994 183714994 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 183714994 183714994 A G SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.7169 p.N2390S 1.000 tigrfam_Rhs_assc_core pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 52 0 0 21 5 19.2308 ENPP6 0 genome.wustl.edu 37 4 185018425 185018425 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 185018425 185018425 G A SNP ENPP6 ENST00000296741 human ensembl 74_37 -1 known missense c.1090 p.R364W 1.000 superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ENPP6 HGNC ENSG00000164303 119 0 0 39 21 35 SORBS2 0 genome.wustl.edu 37 4 186583366 186583366 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 186583366 186583366 C A SNP SORBS2 ENST00000448662 human ensembl 74_37 -1 known missense c.193 p.G65C 0.294 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SORBS2 HGNC ENSG00000154556 31 0 0 13 6 31.5789 FAM149A 0 genome.wustl.edu 37 4 187086608 187086608 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 187086608 187086608 G A SNP FAM149A ENST00000356371 human ensembl 74_37 +1 known missense c.2027 p.R676H 0.713 NULL pfam_DUF3719 - no_errors FAM149A HGNC ENSG00000109794 77 0 0 26 15 36.5854 FAT1 0 genome.wustl.edu 37 4 187519138 187519138 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 187519138 187519138 T C SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.12245 p.Y4082C 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 92 0 0 52 6 10.3448 ZFP42 0 genome.wustl.edu 37 4 188924698 188924698 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 188924698 188924698 G A SNP ZFP42 ENST00000326866 human ensembl 74_37 +1 known missense c.737 p.R246Q 0.999 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP42 HGNC ENSG00000179059 96 0 0 31 7 18.4211 SCARNA22 0 genome.wustl.edu 37 4 1976396 1976396 + RNA SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 1976396 1976396 C T SNP SCARNA22 ENST00000503991 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors SCARNA22 HGNC ENSG00000249784 236 0 0 90 15 14.2857 HAUS3 0 genome.wustl.edu 37 4 2242355 2242355 + Nonsense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 2242355 2242355 G A SNP HAUS3 ENST00000243706 human ensembl 74_37 -1 known nonsense c.319 p.Q107* 1.000 NULL NULL - no_errors HAUS3 HGNC ENSG00000214367 123 0 0 38 21 35.5932 DHX15 0 genome.wustl.edu 37 4 24534753 24534753 + RNA SNP T T A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 24534753 24534753 T A SNP DHX15 ENST00000512903 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DHX15 HGNC ENSG00000109606 48 0 0 12 14 53.8462 RBPJ 0 genome.wustl.edu 37 4 26431568 26431568 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 26431568 26431568 G A SNP RBPJ ENST00000342295 human ensembl 74_37 +1 known missense c.976 p.A326T 0.999 pfam_Beta-trefoil_DNA-bd_dom,superfamily_Beta-trefoil_DNA-bd_dom pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,pfam_IPT,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJ HGNC ENSG00000168214 92 0 0 27 19 41.3043 LOC344967 0 genome.wustl.edu 37 4 40045402 40045402 + RNA SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 40045402 40045402 G A SNP LOC344967 ENST00000381811 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors RP11-333E13.4 Clone_based_vega_gene ENSG00000205794 40 0 0 24 8 25 RBM47 0 genome.wustl.edu 37 4 40440760 40440760 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 40440760 40440760 C A SNP RBM47 ENST00000295971 human ensembl 74_37 -1 known missense c.151 p.G51W 1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM47 HGNC ENSG00000163694 18 0 0 6 6 50 PHOX2B 0 genome.wustl.edu 37 4 41748270 41748270 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 41748270 41748270 C T SNP PHOX2B ENST00000226382 human ensembl 74_37 -1 known missense c.499 p.A167T 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1 - no_errors PHOX2B HGNC ENSG00000109132 97 0 0 34 20 37.037 ZBTB49 0 genome.wustl.edu 37 4 4322608 4322608 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 4322608 4322608 G A SNP ZBTB49 ENST00000337872 human ensembl 74_37 +1 known silent c.1863 p.T621 0.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB49 HGNC ENSG00000168826 51 0 0 26 13 33.3333 CNGA1 0 genome.wustl.edu 37 4 47938810 47938810 + Silent SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 47938810 47938810 A G SNP CNGA1 ENST00000402813 human ensembl 74_37 -1 known silent c.1908 p.S636 0.935 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA1 HGNC ENSG00000198515 196 0 0 126 52 29.2135 SGCB 0 genome.wustl.edu 37 4 52895882 52895882 + Nonsense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 52895882 52895882 G A SNP SGCB ENST00000381431 human ensembl 74_37 -1 known nonsense c.391 p.R131* 1.000 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCB HGNC ENSG00000163069 109 0 0 109 6 5.21739 GSX2 0 genome.wustl.edu 37 4 54966568 54966568 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 54966568 54966568 G A SNP GSX2 ENST00000326902 human ensembl 74_37 +1 known silent c.57 p.A19 0.266 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors GSX2 HGNC ENSG00000180613 46 0 0 36 8 18.1818 PDGFRA 0 genome.wustl.edu 37 4 55146554 55146554 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 55146554 55146554 T C SNP PDGFRA ENST00000257290 human ensembl 74_37 +1 known missense c.2228 p.V743A 0.679 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,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_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors PDGFRA HGNC ENSG00000134853 84 0 0 64 27 29.6703 KIT 0 genome.wustl.edu 37 4 55602973 55602973 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 55602973 55602973 G A SNP KIT ENST00000288135 human ensembl 74_37 +1 known missense c.2683 p.A895T 0.141 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors KIT HGNC ENSG00000157404 58 0 0 56 18 24.3243 EXOC1 0 genome.wustl.edu 37 4 56763012 56763012 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 56763012 56763012 C T SNP EXOC1 ENST00000346134 human ensembl 74_37 +1 known missense c.2083 p.R695C 1.000 pfam_Exocyst_Exoc1/SEC3 pfam_Exocyst_Exoc1/SEC3 - no_errors EXOC1 HGNC ENSG00000090989 66 0 0 53 12 18.4615 KIAA0232 0 genome.wustl.edu 37 4 6843924 6843924 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 6843924 6843924 C A SNP KIAA0232 ENST00000307659 human ensembl 74_37 +1 known missense c.362 p.S121Y 1.000 NULL NULL - no_errors KIAA0232 HGNC ENSG00000170871 95 0 0 32 3 8.57143 UBA6 0 genome.wustl.edu 37 4 68490787 68490787 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 68490787 68490787 G A SNP UBA6 ENST00000322244 human ensembl 74_37 -1 known silent c.2637 p.D879 1.000 pfam_UBact_repeat,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA6 HGNC ENSG00000033178 105 0 0 99 7 6.60377 KIAA0232 0 genome.wustl.edu 37 4 6864082 6864082 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 6864082 6864082 C A SNP KIAA0232 ENST00000307659 human ensembl 74_37 +1 known missense c.1973 p.S658Y 1.000 NULL NULL - no_errors KIAA0232 HGNC ENSG00000170871 66 0 0 25 7 21.875 KIAA0232 0 genome.wustl.edu 37 4 6864571 6864571 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 6864571 6864571 G A SNP KIAA0232 ENST00000307659 human ensembl 74_37 +1 known missense c.2462 p.S821N 1.000 NULL NULL - no_errors KIAA0232 HGNC ENSG00000170871 127 0 0 45 20 30.7692 AMBN 0 genome.wustl.edu 37 4 71472000 71472000 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 71472000 71472000 C T SNP AMBN ENST00000322937 human ensembl 74_37 +1 known silent c.897 p.G299 0.025 pfam_Amelin,smart_Amelin pfam_Amelin,smart_Amelin - no_errors AMBN HGNC ENSG00000178522 73 0 0 64 10 13.5135 ADAMTS3 0 genome.wustl.edu 37 4 73161432 73161432 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 73161432 73161432 C T SNP ADAMTS3 ENST00000286657 human ensembl 74_37 -1 known missense c.2662 p.A888T 0.996 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS3 HGNC ENSG00000156140 134 0 0 94 14 12.963 ADAMTS3 0 genome.wustl.edu 37 4 73179443 73179443 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 73179443 73179443 T C SNP ADAMTS3 ENST00000286657 human ensembl 74_37 -1 known missense c.1696 p.T566A 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS3 HGNC ENSG00000156140 66 0 0 40 30 42.8571 MTHFD2L 0 genome.wustl.edu 37 4 75091091 75091091 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 75091091 75091091 A G SNP MTHFD2L ENST00000395759 human ensembl 74_37 +1 known missense c.785 p.D262G 0.996 pfam_THF_DH/CycHdrlase_NAD-bd_dom,prints_THF_DH/CycHdrlase pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD2L HGNC ENSG00000163738 127 0 0 112 29 20.5674 AFAP1 0 genome.wustl.edu 37 4 7820825 7820825 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 7820825 7820825 A G SNP AFAP1 ENST00000420658 human ensembl 74_37 -1 known missense c.800 p.V267A 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1 HGNC ENSG00000196526 100 0 0 42 20 32.2581 BMP3 0 genome.wustl.edu 37 4 81967654 81967654 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 81967654 81967654 G T SNP BMP3 ENST00000282701 human ensembl 74_37 +1 known missense c.1079 p.R360M 1.000 pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors BMP3 HGNC ENSG00000152785 122 0 0 42 21 33.3333 PRKG2 0 genome.wustl.edu 37 4 82125916 82125916 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 82125916 82125916 C T SNP PRKG2 ENST00000264399 human ensembl 74_37 -1 known missense c.286 p.A96T 0.038 pirsf_cGMP-dependent_protein_kinase pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC ENSG00000138669 249 0 0 71 44 38.2609 SH3TC1 0 genome.wustl.edu 37 4 8214541 8214541 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 8214541 8214541 G A SNP SH3TC1 ENST00000245105 human ensembl 74_37 +1 known missense c.361 p.A121T 0.279 NULL superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC ENSG00000125089 10 0 0 3 4 57.1429 SH3TC1 0 genome.wustl.edu 37 4 8242611 8242611 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 8242611 8242611 C T SNP SH3TC1 ENST00000245105 human ensembl 74_37 +1 known missense c.3940 p.R1314C 0.430 NULL superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC ENSG00000125089 125 0 0 47 21 30.8824 FAM175A 0 genome.wustl.edu 37 4 84406126 84406126 + RNA SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 84406126 84406126 T C SNP FAM175A ENST00000503217 human ensembl 74_37 -1 putative rna NULL NULL 0.004 - - - no_errors FAM175A HGNC ENSG00000163322 29 0 0 16 9 36 PKD2 0 genome.wustl.edu 37 4 88989190 88989190 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 88989190 88989190 C T SNP PKD2 ENST00000237596 human ensembl 74_37 +1 known silent c.2499 p.G833 0.023 NULL pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2 HGNC ENSG00000118762 145 0 0 18 27 60 MMRN1 0 genome.wustl.edu 37 4 90857014 90857014 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 90857014 90857014 T C SNP MMRN1 ENST00000264790 human ensembl 74_37 +1 known missense c.2183 p.L728P 0.999 NULL pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MMRN1 HGNC ENSG00000138722 63 0 0 24 5 17.2414 DRD5 0 genome.wustl.edu 37 4 9783755 9783755 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 9783755 9783755 G A SNP DRD5 ENST00000304374 human ensembl 74_37 +1 known silent c.102 p.P34 0.140 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D5_rcpt,prints_Dopamine_rcpt - no_errors DRD5 HGNC ENSG00000169676 25 0 0 8 6 42.8571 MCC 0 genome.wustl.edu 37 5 112406880 112406880 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 112406880 112406880 C A SNP MCC ENST00000302475 human ensembl 74_37 -1 known missense c.1266 p.E422D 0.997 pfam_USH1C-bd_PDZ_domain pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm - no_errors MCC HGNC ENSG00000171444 187 0 0 94 52 35.6164 DMXL1 0 genome.wustl.edu 37 5 118560435 118560435 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 118560435 118560435 G T SNP DMXL1 ENST00000539542 human ensembl 74_37 +1 known missense c.8309 p.R2770I 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 105 1 0.943396 37 16 30.1887 HSD17B4 0 genome.wustl.edu 37 5 118842530 118842530 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 118842530 118842530 G A SNP HSD17B4 ENST00000256216 human ensembl 74_37 +1 known missense c.1279 p.A427T 1.000 NULL pfam_MaoC_dom,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC ENSG00000133835 49 0 0 20 10 33.3333 SNX24 0 genome.wustl.edu 37 5 122281825 122281825 + Nonsense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 122281825 122281825 C T SNP SNX24 ENST00000261369 human ensembl 74_37 +1 known nonsense c.220 p.R74* 0.999 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX24 HGNC ENSG00000064652 70 0 0 21 11 34.375 FBN2 0 genome.wustl.edu 37 5 127704974 127704974 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 127704974 127704974 G A SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.2149 p.R717C 1.000 pirsf_FBN,pfam_TB_dom,superfamily_TB_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 86 0 0 43 23 34.8485 SHROOM1 0 genome.wustl.edu 37 5 132161101 132161101 + Silent SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 132161101 132161101 A G SNP SHROOM1 ENST00000378679 human ensembl 74_37 -1 known silent c.732 p.G244 0.000 NULL pfam_ASD2,pfam_ASD1 - no_errors SHROOM1 HGNC ENSG00000164403 20 0 0 8 6 42.8571 VDAC1 0 genome.wustl.edu 37 5 133328039 133328039 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 133328039 133328039 G A SNP VDAC1 ENST00000265333 human ensembl 74_37 -1 known silent c.75 p.G25 0.992 pfam_Porin_Euk/Tom40 pfam_Porin_Euk/Tom40,prints_Porin_Euk - no_errors VDAC1 HGNC ENSG00000213585 56 0 0 29 13 30.9524 PITX1 0 genome.wustl.edu 37 5 134364715 134364715 + Silent SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 134364715 134364715 G T SNP PITX1 ENST00000265340 human ensembl 74_37 -1 known silent c.699 p.A233 0.999 pirsf_Homeobox_Pitx/unc30 pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors PITX1 HGNC ENSG00000069011 125 0 0 95 7 6.86275 ENSG00000250692 0 genome.wustl.edu 37 5 139235372 139235372 + Splice_Site SNP G G C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 139235372 139235372 G C SNP ENSG00000250692 ENST00000504413 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.613 - - - no_errors CTB-35F21.4 Clone_based_vega_gene ENSG00000250692 87 0 0 48 17 26.1538 PCDHA1 0 genome.wustl.edu 37 5 140165992 140165992 + Silent SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 140165992 140165992 C A SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known silent c.117 p.A39 0.909 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 139 0 0 76 20 20.8333 PCDHA1 0 genome.wustl.edu 37 5 140167380 140167380 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 140167380 140167380 G A SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known missense c.1505 p.R502H 0.819 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 176 0 0 109 36 24.8276 PCDHA9 0 genome.wustl.edu 37 5 140229448 140229448 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 140229448 140229448 G A SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known silent c.1368 p.A456 0.021 superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 205 0 0 126 60 32.2581 PCDHA12 0 genome.wustl.edu 37 5 140256412 140256412 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 140256412 140256412 C T SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known missense c.1355 p.A452V 0.998 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 267 0 0 130 49 27.3743 PCDHA12 0 genome.wustl.edu 37 5 140257112 140257112 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 140257112 140257112 C T SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known silent c.2055 p.G685 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 82 0 0 76 22 22.449 PCDHA13 0 genome.wustl.edu 37 5 140263877 140263877 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 140263877 140263877 C T SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known missense c.2024 p.A675V 0.004 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 113 0 0 71 17 19.3182 PCDHB4 0 genome.wustl.edu 37 5 140502247 140502247 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 140502247 140502247 G A SNP PCDHB4 ENST00000194152 human ensembl 74_37 +1 known missense c.667 p.G223S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 147 0 0 89 18 16.8224 PCDHB7 0 genome.wustl.edu 37 5 140554058 140554058 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 140554058 140554058 C T SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known missense c.1642 p.R548C 0.913 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 PCDHB7 HGNC ENSG00000113212 125 1 0.793651 72 13 15.2941 PCDHB16 0 genome.wustl.edu 37 5 140563557 140563557 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 140563557 140563557 G A SNP PCDHB16 ENST00000361016 human ensembl 74_37 +1 known missense c.1423 p.A475T 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 258 1 0.3861 158 12 7.05882 PCDHB12 0 genome.wustl.edu 37 5 140589394 140589394 + Silent SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 140589394 140589394 A G SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known silent c.915 p.A305 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 128 0 0 58 23 28.3951 PCDHGA3 0 genome.wustl.edu 37 5 140725577 140725577 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 140725577 140725577 G A SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known silent c.1977 p.T659 0.359 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 133 0 0 69 28 28.866 PCDHGA4 0 genome.wustl.edu 37 5 140734936 140734936 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 140734936 140734936 C T SNP PCDHGA4 ENST00000571252 human ensembl 74_37 +1 known missense c.169 p.R57W 0.003 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA4 HGNC ENSG00000262576 185 0 0 79 25 24.0385 PCDHGA5 0 genome.wustl.edu 37 5 140746034 140746034 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 140746034 140746034 G A SNP PCDHGA5 ENST00000518069 human ensembl 74_37 +1 known missense c.2137 p.V713M 0.965 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 324 0 0 194 69 26.2357 PCDHGB3 0 genome.wustl.edu 37 5 140752045 140752045 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 140752045 140752045 C T SNP PCDHGB3 ENST00000576222 human ensembl 74_37 +1 known missense c.2084 p.A695V 0.995 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB3 HGNC ENSG00000262209 156 0 0 80 42 34.4262 PCDHGA7 0 genome.wustl.edu 37 5 140763070 140763070 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 140763070 140763070 C T SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known missense c.604 p.R202W 0.986 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 23 0 0 11 5 31.25 PCDHGA10 0 genome.wustl.edu 37 5 140793318 140793318 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 140793318 140793318 C T SNP PCDHGA10 ENST00000398610 human ensembl 74_37 +1 known silent c.576 p.G192 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA10 HGNC ENSG00000253846 64 0 0 35 23 39.6552 PCDHGA11 0 genome.wustl.edu 37 5 140802457 140802457 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 140802457 140802457 G A SNP PCDHGA11 ENST00000398587 human ensembl 74_37 +1 known missense c.1663 p.D555N 1.000 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 PCDHGA11 HGNC ENSG00000253873 395 0 0 229 75 24.6711 PCDHGC4 0 genome.wustl.edu 37 5 140866670 140866670 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 140866670 140866670 G A SNP PCDHGC4 ENST00000306593 human ensembl 74_37 +1 known missense c.1930 p.V644I 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC4 HGNC ENSG00000242419 66 0 0 25 10 28.5714 PCDH1 0 genome.wustl.edu 37 5 141243762 141243762 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 141243762 141243762 C T SNP PCDH1 ENST00000287008 human ensembl 74_37 -1 known missense c.2134 p.A712T 0.552 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 111 0 0 56 21 27.2727 PCDH12 0 genome.wustl.edu 37 5 141335926 141335926 + Nonsense_Mutation SNP G G C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 141335926 141335926 G C SNP PCDH12 ENST00000231484 human ensembl 74_37 -1 known nonsense c.1491 p.Y497* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 102 0 0 46 17 26.9841 SLC6A3 0 genome.wustl.edu 37 5 1416275 1416275 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 1416275 1416275 G A SNP SLC6A3 ENST00000270349 human ensembl 74_37 -1 known silent c.969 p.G323 0.989 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine - no_errors SLC6A3 HGNC ENSG00000142319 101 0 0 66 11 14.2857 SLC6A3 0 genome.wustl.edu 37 5 1432617 1432617 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 1432617 1432617 G A SNP SLC6A3 ENST00000270349 human ensembl 74_37 -1 known silent c.615 p.N205 0.989 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine - no_errors SLC6A3 HGNC ENSG00000142319 96 0 0 52 13 20 TRIO 0 genome.wustl.edu 37 5 14462945 14462945 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 14462945 14462945 G T SNP TRIO ENST00000344204 human ensembl 74_37 +1 known missense c.5578 p.G1860C 1.000 NULL pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 173 0 0 71 32 31.068 PLAC8L1 0 genome.wustl.edu 37 5 145465117 145465117 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 145465117 145465117 G A SNP PLAC8L1 ENST00000311450 human ensembl 74_37 -1 known silent c.300 p.I100 0.949 pfam_Uncharacterised_Cys-rich,tigrfam_Uncharacterised_Cys-rich pfam_Uncharacterised_Cys-rich,tigrfam_Uncharacterised_Cys-rich - no_errors PLAC8L1 HGNC ENSG00000173261 76 0 0 36 8 18.1818 RBM27 0 genome.wustl.edu 37 5 145651091 145651091 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 145651091 145651091 T C SNP RBM27 ENST00000265271 human ensembl 74_37 +1 known missense c.2842 p.S948P 1.000 NULL pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 71 0 0 44 14 24.1379 PDGFRB 0 genome.wustl.edu 37 5 149498325 149498325 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 149498325 149498325 G A SNP PDGFRB ENST00000261799 human ensembl 74_37 -1 known silent c.2889 p.G963 0.027 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors PDGFRB HGNC ENSG00000113721 197 0 0 91 27 22.8814 PDGFRB 0 genome.wustl.edu 37 5 149511617 149511617 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 149511617 149511617 C T SNP PDGFRB ENST00000261799 human ensembl 74_37 -1 known missense c.1168 p.E390K 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors PDGFRB HGNC ENSG00000113721 63 0 0 41 17 29.3103 NDST1 0 genome.wustl.edu 37 5 149927859 149927859 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 149927859 149927859 C T SNP NDST1 ENST00000261797 human ensembl 74_37 +1 known missense c.2225 p.S742L 0.004 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST1 HGNC ENSG00000070614 87 0 0 47 11 18.9655 DCTN4 0 genome.wustl.edu 37 5 150090922 150090922 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 150090922 150090922 A G SNP DCTN4 ENST00000446090 human ensembl 74_37 -1 known missense c.1193 p.I398T 1.000 pfam_Dynactin_p62 pfam_Dynactin_p62 - no_errors DCTN4 HGNC ENSG00000132912 53 0 0 28 20 41.6667 ITK 0 genome.wustl.edu 37 5 156649962 156649962 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 156649962 156649962 C T SNP ITK ENST00000422843 human ensembl 74_37 +1 known silent c.585 p.N195 0.912 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ITK HGNC ENSG00000113263 151 0 0 76 22 22.449 ADRA1B 0 genome.wustl.edu 37 5 159344849 159344849 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 159344849 159344849 G T SNP ADRA1B ENST00000306675 human ensembl 74_37 +1 known missense c.937 p.A313S 0.992 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1B_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1B HGNC ENSG00000170214 197 0 0 130 11 7.80142 CCNJL 0 genome.wustl.edu 37 5 159707555 159707555 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 159707555 159707555 G A SNP CCNJL ENST00000393977 human ensembl 74_37 -1 known missense c.257 p.A86V 0.999 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_C-dom,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNJL HGNC ENSG00000135083 195 0 0 105 42 28.5714 PTTG1 0 genome.wustl.edu 37 5 159854859 159854859 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 159854859 159854859 C T SNP PTTG1 ENST00000352433 human ensembl 74_37 +1 known missense c.508 p.P170S 0.194 pfam_Securin_separation_inhibitor pfam_Securin_separation_inhibitor - no_errors PTTG1 HGNC ENSG00000164611 94 0 0 39 13 25 ATP10B 0 genome.wustl.edu 37 5 160033846 160033846 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 160033846 160033846 C T SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known missense c.3086 p.R1029H 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10B HGNC ENSG00000118322 142 0 0 85 17 16.6667 ENSG00000253403 0 genome.wustl.edu 37 5 161116398 161116398 + RNA SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 161116398 161116398 T G SNP ENSG00000253403 ENST00000521984 human ensembl 74_37 -1 known rna NULL NULL 0.214 - - - no_errors RP11-348M17.2 Clone_based_vega_gene ENSG00000253403 30 0 0 17 6 26.087 ENSG00000241956 0 genome.wustl.edu 37 5 164028161 164028161 + RNA SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 164028161 164028161 G A SNP ENSG00000241956 ENST00000486913 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors CTC-340A15.2 Clone_based_vega_gene ENSG00000241956 11 0 0 8 5 38.4615 SLIT3 0 genome.wustl.edu 37 5 168244398 168244398 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 168244398 168244398 G A SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known missense c.700 p.R234W 0.177 smart_Cys-rich_flank_reg_C pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 92 0 0 35 12 25.5319 KCNIP1 0 genome.wustl.edu 37 5 170147330 170147330 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 170147330 170147330 C T SNP KCNIP1 ENST00000411494 human ensembl 74_37 +1 known silent c.225 p.C75 1.000 prints_Recoverin pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors KCNIP1 HGNC ENSG00000182132 57 0 0 68 11 13.9241 STK10 0 genome.wustl.edu 37 5 171482726 171482726 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 171482726 171482726 G A SNP STK10 ENST00000176763 human ensembl 74_37 -1 known missense c.2392 p.R798W 0.997 pfam_PKK pfam_PKK,pfam_Prot_kinase_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_dom - no_errors STK10 HGNC ENSG00000072786 69 0 0 73 23 23.9583 SH3PXD2B 0 genome.wustl.edu 37 5 171765430 171765430 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 171765430 171765430 G A SNP SH3PXD2B ENST00000311601 human ensembl 74_37 -1 known silent c.2679 p.S893 0.030 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac-type,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2B HGNC ENSG00000174705 211 0 0 214 39 15.415 CPEB4 0 genome.wustl.edu 37 5 173317794 173317794 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 173317794 173317794 C T SNP CPEB4 ENST00000265085 human ensembl 74_37 +1 known missense c.1058 p.S353F 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB4 HGNC ENSG00000113742 82 0 0 88 16 15.3846 SLC34A1 0 genome.wustl.edu 37 5 176813055 176813055 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 176813055 176813055 G A SNP SLC34A1 ENST00000324417 human ensembl 74_37 +1 known silent c.177 p.E59 0.995 NULL pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A1 HGNC ENSG00000131183 95 0 0 70 15 17.6471 SLC34A1 0 genome.wustl.edu 37 5 176815130 176815130 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 176815130 176815130 C T SNP SLC34A1 ENST00000324417 human ensembl 74_37 +1 known silent c.780 p.G260 0.294 tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A1 HGNC ENSG00000131183 76 0 0 74 4 5.12821 B4GALT7 0 genome.wustl.edu 37 5 177031391 177031391 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 177031391 177031391 G A SNP B4GALT7 ENST00000029410 human ensembl 74_37 +1 known missense c.262 p.A88T 0.007 pfam_Galactosyl_T_C pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT7 HGNC ENSG00000027847 38 0 0 47 10 17.5439 HNRNPAB 0 genome.wustl.edu 37 5 177634161 177634161 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 177634161 177634161 T G SNP HNRNPAB ENST00000358344 human ensembl 74_37 +1 known missense c.604 p.F202V 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_CARG-binding_factor_N,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPAB HGNC ENSG00000197451 170 0 0 125 25 16.6667 ZNF454 0 genome.wustl.edu 37 5 178373448 178373448 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 178373448 178373448 A G SNP ZNF454 ENST00000320129 human ensembl 74_37 +1 known missense c.122 p.D41G 0.910 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF454 HGNC ENSG00000178187 157 0 0 145 22 13.1737 ADAMTS2 0 genome.wustl.edu 37 5 178581820 178581820 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 178581820 178581820 G A SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known silent c.1233 p.G411 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 18 0 0 31 4 11.4286 ADAMTS2 0 genome.wustl.edu 37 5 178585791 178585791 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 178585791 178585791 G A SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known silent c.1065 p.G355 0.080 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 158 0 0 142 24 14.4578 FLT4 0 genome.wustl.edu 37 5 180048661 180048661 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 180048661 180048661 G A SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known missense c.1901 p.A634V 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 59 0 0 48 13 21.3115 OR2V2 0 genome.wustl.edu 37 5 180582844 180582844 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 180582844 180582844 C A SNP OR2V2 ENST00000328275 human ensembl 74_37 +1 known missense c.902 p.A301E 0.832 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2V2 HGNC ENSG00000182613 75 0 0 70 12 14.6341 TRIM7 0 genome.wustl.edu 37 5 180622613 180622613 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 180622613 180622613 G A SNP TRIM7 ENST00000274773 human ensembl 74_37 -1 known silent c.1089 p.G363 0.609 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM7 HGNC ENSG00000146054 127 0 0 122 19 13.4752 LRRC14B 0 genome.wustl.edu 37 5 192310 192310 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 192310 192310 G A SNP LRRC14B ENST00000328278 human ensembl 74_37 +1 novel silent c.657 p.V219 0.998 NULL NULL - no_errors LRRC14B HGNC ENSG00000185028 23 0 0 10 7 41.1765 C5orf38 0 genome.wustl.edu 37 5 2753429 2753429 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 2753429 2753429 C A SNP C5orf38 ENST00000334000 human ensembl 74_37 +1 known missense c.364 p.L122M 0.004 NULL NULL - no_errors C5orf38 HGNC ENSG00000186493 177 0 0 162 39 19.403 CDH6 0 genome.wustl.edu 37 5 31323340 31323340 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 31323340 31323340 C T SNP CDH6 ENST00000265071 human ensembl 74_37 +1 known silent c.2298 p.Y766 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC ENSG00000113361 111 0 0 69 30 30.303 PDZD2 0 genome.wustl.edu 37 5 32074219 32074219 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 32074219 32074219 C T SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.3007 p.R1003C 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 112 0 0 66 25 27.4725 ADAMTS12 0 genome.wustl.edu 37 5 33535021 33535021 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 33535021 33535021 T C SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.4523 p.D1508G 0.288 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 101 1 0.980392 26 19 42.2222 ADAMTS12 0 genome.wustl.edu 37 5 33576948 33576948 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 33576948 33576948 G A SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known silent c.3183 p.D1061 0.345 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 102 0 0 41 13 24.0741 ADAMTS12 0 genome.wustl.edu 37 5 33614468 33614468 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 33614468 33614468 A C SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.2402 p.V801G 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 71 0 0 26 12 31.5789 ADAMTS12 0 genome.wustl.edu 37 5 33649727 33649727 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 33649727 33649727 C A SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.1266 p.Q422H 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 121 0 0 40 26 39.3939 C5orf42 0 genome.wustl.edu 37 5 37142580 37142580 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 37142580 37142580 G A SNP C5orf42 ENST00000425232 human ensembl 74_37 -1 known missense c.8302 p.R2768C 0.000 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 87 0 0 34 6 15 C9 0 genome.wustl.edu 37 5 39341801 39341801 + Missense_Mutation SNP A A T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 39341801 39341801 A T SNP C9 ENST00000263408 human ensembl 74_37 -1 known missense c.185 p.F62Y 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_MAC_perforin,pfscan_Thrombospondin_1_rpt pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt - no_errors C9 HGNC ENSG00000113600 71 0 0 31 10 24.3902 MROH2B 0 genome.wustl.edu 37 5 41070947 41070947 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 41070947 41070947 A C SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.8 p.L3R 0.000 NULL superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 22 0 0 14 5 26.3158 C6 0 genome.wustl.edu 37 5 41176626 41176626 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 41176626 41176626 G A SNP C6 ENST00000263413 human ensembl 74_37 -1 known silent c.1119 p.G373 0.000 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt - no_errors C6 HGNC ENSG00000039537 82 0 0 49 20 28.9855 NSUN2 0 genome.wustl.edu 37 5 6602599 6602599 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 6602599 6602599 C T SNP NSUN2 ENST00000264670 human ensembl 74_37 -1 known missense c.1972 p.V658M 1.000 NULL pfam_Fmu/NOL1/Nop2p,prints_RCMT,prints_RCMT_NCL1 - no_errors NSUN2 HGNC ENSG00000037474 343 0 0 201 73 26.6423 PIK3R1 0 genome.wustl.edu 37 5 67569823 67569823 + Nonsense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 67569823 67569823 C T SNP PIK3R1 ENST00000396611 human ensembl 74_37 +1 known nonsense c.484 p.R162* 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 156 0 0 51 31 37.8049 ZNF366 0 genome.wustl.edu 37 5 71756809 71756809 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 71756809 71756809 G A SNP ZNF366 ENST00000318442 human ensembl 74_37 -1 known missense c.515 p.T172M 0.550 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ENSG00000178175 231 0 0 78 39 33.3333 JMY 0 genome.wustl.edu 37 5 78610244 78610244 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 78610244 78610244 G T SNP JMY ENST00000396137 human ensembl 74_37 +1 known missense c.2229 p.K743N 0.000 NULL pfscan_WH2_dom - no_errors JMY HGNC ENSG00000152409 132 0 0 72 4 5.26316 THBS4 0 genome.wustl.edu 37 5 79331376 79331376 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 79331376 79331376 G A SNP THBS4 ENST00000350881 human ensembl 74_37 +1 known missense c.16 p.G6R 0.065 NULL pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS4 HGNC ENSG00000113296 10 0 0 3 3 50 THBS4 0 genome.wustl.edu 37 5 79355572 79355572 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 79355572 79355572 G A SNP THBS4 ENST00000350881 human ensembl 74_37 +1 known silent c.831 p.P277 0.000 NULL pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS4 HGNC ENSG00000113296 284 0 0 92 52 36.1111 GPR98 0 genome.wustl.edu 37 5 90144541 90144541 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 90144541 90144541 C T SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.17107 p.R5703C 1.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 40 0 0 22 10 31.25 CAST 0 genome.wustl.edu 37 5 96086328 96086328 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 96086328 96086328 C T SNP CAST ENST00000395813 human ensembl 74_37 +1 known missense c.1466 p.A489V 0.004 pfam_Prot_inh_calpain pfam_Prot_inh_calpain - no_errors CAST HGNC ENSG00000153113 107 0 0 22 13 37.1429 ERAP2 0 genome.wustl.edu 37 5 96244664 96244664 + Splice_Site SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 96244664 96244664 G A SNP ERAP2 ENST00000437043 human ensembl 74_37 +1 known splice_site c.2013-1 e13-1 0.997 - - - no_errors ERAP2 HGNC ENSG00000164308 107 0 0 47 20 29.8507 RGMB 0 genome.wustl.edu 37 5 98129042 98129042 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 98129042 98129042 C T SNP RGMB ENST00000308234 human ensembl 74_37 +1 known missense c.1022 p.A341V 1.000 pfam_RGM_C pfam_RGM_C,pfam_RGM_N - no_errors RGMB HGNC ENSG00000174136 47 0 0 15 15 50 ATG5 0 genome.wustl.edu 37 6 106649786 106649786 + RNA SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 106649786 106649786 G A SNP ATG5 ENST00000476518 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors ATG5 HGNC ENSG00000057663 54 0 0 25 16 39.0244 MARCKS 0 genome.wustl.edu 37 6 114181338 114181338 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 114181338 114181338 C T SNP MARCKS ENST00000368635 human ensembl 74_37 +1 known silent c.582 p.D194 1.000 pfam_MARCKS pfam_MARCKS,prints_MARCKS - no_errors MARCKS HGNC ENSG00000155130 23 0 0 7 10 58.8235 STL 0 genome.wustl.edu 37 6 125269089 125269089 + RNA SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 125269089 125269089 A G SNP STL ENST00000439075 human ensembl 74_37 -1 known rna NULL NULL 0.017 - - - no_errors RP11-510H23.1 Clone_based_vega_gene ENSG00000236548 60 0 0 16 12 42.8571 TAAR5 0 genome.wustl.edu 37 6 132910413 132910413 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 132910413 132910413 T G SNP TAAR5 ENST00000258034 human ensembl 74_37 -1 known missense c.413 p.D138A 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam - no_errors TAAR5 HGNC ENSG00000135569 138 0 0 84 31 26.9565 TAAR5 0 genome.wustl.edu 37 6 132910785 132910785 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 132910785 132910785 G A SNP TAAR5 ENST00000258034 human ensembl 74_37 -1 known missense c.41 p.A14V 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam - no_errors TAAR5 HGNC ENSG00000135569 96 0 0 57 14 19.7183 UTRN 0 genome.wustl.edu 37 6 144759958 144759958 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 144759958 144759958 G A SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.1319 p.R440H 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 84 0 0 36 18 33.3333 UTRN 0 genome.wustl.edu 37 6 145156929 145156929 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 145156929 145156929 G A SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.9679 p.A3227T 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 343 1 0.290698 186 67 26.4822 GRM1 0 genome.wustl.edu 37 6 146720510 146720510 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 146720510 146720510 G A SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.2335 p.A779T 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 151 0 0 73 31 29.8077 SYNE1 0 genome.wustl.edu 37 6 152644683 152644683 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 152644683 152644683 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.15847 p.A5283T 0.061 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 129 0 0 49 27 35.5263 SYNE1 0 genome.wustl.edu 37 6 152646295 152646295 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 152646295 152646295 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.15581 p.R5194H 0.764 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 272 0 0 134 10 6.94444 DTNBP1 0 genome.wustl.edu 37 6 15524722 15524722 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 15524722 15524722 C T SNP DTNBP1 ENST00000338950 human ensembl 74_37 -1 known silent c.846 p.G282 0.000 NULL pfam_Dysbindin,superfamily_Trp_syn_b_sub_like_PLP_eny_SF - no_errors DTNBP1 HGNC ENSG00000047579 311 0 0 122 8 6.15385 TFB1M 0 genome.wustl.edu 37 6 155606374 155606374 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 155606374 155606374 C T SNP TFB1M ENST00000367166 human ensembl 74_37 -1 known missense c.584 p.R195H 1.000 pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N - no_errors TFB1M HGNC ENSG00000029639 69 0 0 29 18 38.2979 NOX3 0 genome.wustl.edu 37 6 155743924 155743924 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 155743924 155743924 G A SNP NOX3 ENST00000159060 human ensembl 74_37 -1 known silent c.1212 p.C404 0.999 pfam_Fe_red_NAD-bd_6,prints_Cyt_b245_heavy_chain pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX3 HGNC ENSG00000074771 225 0 0 77 40 34.188 RSPH3 0 genome.wustl.edu 37 6 159401964 159401964 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 159401964 159401964 C T SNP RSPH3 ENST00000252655 human ensembl 74_37 -1 known missense c.1127 p.R376Q 0.980 pfam_Radial_spoke_3 pfam_Radial_spoke_3 - no_errors RSPH3 HGNC ENSG00000130363 99 0 0 80 5 5.88235 MLLT4 0 genome.wustl.edu 37 6 168273011 168273011 + Nonsense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 168273011 168273011 C T SNP MLLT4 ENST00000366806 human ensembl 74_37 +1 known nonsense c.532 p.R178* 0.796 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 128 0 0 47 18 27.6923 THBS2 0 genome.wustl.edu 37 6 169637863 169637863 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 169637863 169637863 G A SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known missense c.1157 p.P386L 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 65 0 0 28 2 6.66667 DLL1 0 genome.wustl.edu 37 6 170592753 170592753 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 170592753 170592753 G A SNP DLL1 ENST00000366756 human ensembl 74_37 -1 known silent c.1614 p.G538 0.974 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL1 HGNC ENSG00000198719 25 0 0 9 7 43.75 ALDH5A1 0 genome.wustl.edu 37 6 24523088 24523088 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 24523088 24523088 G A SNP ALDH5A1 ENST00000348925 human ensembl 74_37 +1 known missense c.1147 p.V383I 0.846 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH - no_errors ALDH5A1 HGNC ENSG00000112294 161 0 0 69 26 27.3684 FAM65B 0 genome.wustl.edu 37 6 24843458 24843458 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 24843458 24843458 C T SNP FAM65B ENST00000259698 human ensembl 74_37 -1 known missense c.1552 p.A518T 0.347 NULL superfamily_ARM-type_fold - no_errors FAM65B HGNC ENSG00000111913 122 0 0 39 16 29.0909 SLC17A2 0 genome.wustl.edu 37 6 25921306 25921306 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 25921306 25921306 C A SNP SLC17A2 ENST00000377850 human ensembl 74_37 -1 known missense c.490 p.G164C 0.984 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A2 HGNC ENSG00000112337 68 0 0 43 4 8.51064 HIST1H2AH 0 genome.wustl.edu 37 6 27114952 27114952 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 27114952 27114952 C T SNP HIST1H2AH ENST00000377459 human ensembl 74_37 +1 known silent c.45 p.A15 0.990 superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AH HGNC ENSG00000184825 157 0 0 64 31 32.6316 TCF19 0 genome.wustl.edu 37 6 31127381 31127381 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 31127381 31127381 G A SNP TCF19 ENST00000376255 human ensembl 74_37 +1 known silent c.135 p.R45 1.000 pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom pfam_FHA_dom,pfam_Znf_PHD-finger,superfamily_SMAD_FHA_domain,superfamily_Znf_FYVE_PHD,smart_FHA_dom,smart_Znf_PHD,pfscan_FHA_dom - no_errors TCF19 HGNC ENSG00000137310 51 0 0 16 11 40.7407 HCP5 0 genome.wustl.edu 37 6 31431864 31431864 + RNA SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 31431864 31431864 T C SNP HCP5 ENST00000414046 human ensembl 74_37 +1 known rna NULL NULL 0.021 - - - no_errors HCP5 HGNC ENSG00000206337 101 0 0 38 15 28.3019 LTB 0 genome.wustl.edu 37 6 31548444 31548444 + RNA SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 31548444 31548444 G A SNP LTB ENST00000483972 human ensembl 74_37 -1 known rna NULL NULL 0.084 - - - no_errors LTB HGNC ENSG00000227507 84 0 0 36 8 18.1818 PRRC2A 0 genome.wustl.edu 37 6 31599862 31599862 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 31599862 31599862 G A SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.3412 p.A1138T 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 94 0 0 61 7 10.2941 ABHD16A 0 genome.wustl.edu 37 6 31668763 31668763 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 31668763 31668763 G A SNP ABHD16A ENST00000395952 human ensembl 74_37 -1 known missense c.299 p.A100V 0.998 NULL pfam_AB_hydrolase_1 - no_errors ABHD16A HGNC ENSG00000204427 113 0 0 27 22 44.898 FKBPL 0 genome.wustl.edu 37 6 32097117 32097117 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 32097117 32097117 G A SNP FKBPL ENST00000375156 human ensembl 74_37 -1 known silent c.441 p.G147 0.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FKBPL HGNC ENSG00000204315 599 0 0 187 106 36.1775 AGPAT1 0 genome.wustl.edu 37 6 32137062 32137062 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 32137062 32137062 G A SNP AGPAT1 ENST00000336984 human ensembl 74_37 -1 known silent c.843 p.G281 0.013 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,tigrfam_AGP_acyltrans - no_errors AGPAT1 HGNC ENSG00000204310 98 0 0 27 15 35.7143 NOTCH4 0 genome.wustl.edu 37 6 32188990 32188990 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 32188990 32188990 G A SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known silent c.564 p.G188 0.063 pirsf_Notch,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 83 0 0 27 13 32.5 TUBB2B 0 genome.wustl.edu 37 6 3225000 3225000 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 3225000 3225000 G A SNP TUBB2B ENST00000259818 human ensembl 74_37 -1 known silent c.1323 p.G441 0.010 NULL pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB2B HGNC ENSG00000137285 108 0 0 35 19 35.1852 ITPR3 0 genome.wustl.edu 37 6 33658863 33658863 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 33658863 33658863 G T SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.7202 p.R2401L 1.000 pfam_Ion_trans_dom pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 151 1 0.657895 36 25 40.9836 GLP1R 0 genome.wustl.edu 37 6 39041466 39041466 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 39041466 39041466 C T SNP GLP1R ENST00000373256 human ensembl 74_37 +1 known silent c.744 p.G248 0.989 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GLP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt - no_errors GLP1R HGNC ENSG00000112164 198 0 0 61 37 37.7551 MOCS1 0 genome.wustl.edu 37 6 39895114 39895114 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 39895114 39895114 C A SNP MOCS1 ENST00000340692 human ensembl 74_37 -1 known missense c.204 p.Q68H 0.626 tigrfam_MoaA pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C - no_errors MOCS1 HGNC ENSG00000124615 65 0 0 20 13 39.3939 IRF4 0 genome.wustl.edu 37 6 405052 405052 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 405052 405052 G A SNP IRF4 ENST00000380956 human ensembl 74_37 +1 known silent c.1134 p.L378 0.838 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF4 HGNC ENSG00000137265 102 1 0.970874 26 11 29.7297 FAM217A 0 genome.wustl.edu 37 6 4069126 4069126 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 4069126 4069126 A C SNP FAM217A ENST00000274673 human ensembl 74_37 -1 known missense c.1331 p.V444G 0.936 NULL NULL - no_errors FAM217A HGNC ENSG00000145975 139 0 0 45 31 40.7895 FRS3 0 genome.wustl.edu 37 6 41738915 41738915 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 41738915 41738915 C T SNP FRS3 ENST00000259748 human ensembl 74_37 -1 known silent c.921 p.P307 0.677 NULL pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors FRS3 HGNC ENSG00000137218 45 0 0 23 3 11.5385 TRERF1 0 genome.wustl.edu 37 6 42231075 42231075 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 42231075 42231075 C T SNP TRERF1 ENST00000541110 human ensembl 74_37 -1 known missense c.1867 p.D623N 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 171 0 0 54 34 38.6364 CUL9 0 genome.wustl.edu 37 6 43154154 43154154 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 43154154 43154154 C T SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known silent c.1212 p.G404 0.995 pfam_CPH_domain pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 98 0 0 34 17 33.3333 TDRD6 0 genome.wustl.edu 37 6 46660831 46660831 + Nonsense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 46660831 46660831 G T SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known nonsense c.4966 p.E1656* 1.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 82 0 0 28 13 31.7073 TDRD6 0 genome.wustl.edu 37 6 46661433 46661433 + Silent SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 46661433 46661433 A G SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known silent c.5568 p.L1856 0.161 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 109 0 0 22 22 50 GFRAL 0 genome.wustl.edu 37 6 55196524 55196524 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 55196524 55196524 A C SNP GFRAL ENST00000340465 human ensembl 74_37 +1 known missense c.34 p.S12R 0.001 NULL pfam_GDNF/GAS1,smart_GDNF/GAS1 - no_errors GFRAL HGNC ENSG00000187871 52 0 0 32 7 17.9487 HMGCLL1 0 genome.wustl.edu 37 6 55406891 55406891 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 55406891 55406891 T G SNP HMGCLL1 ENST00000398661 human ensembl 74_37 -1 known missense c.246 p.E82D 1.000 pfscan_PYR_CT pfam_PYR_CT,pfscan_PYR_CT - no_errors HMGCLL1 HGNC ENSG00000146151 60 0 0 23 7 23.3333 ENSG00000266793 0 genome.wustl.edu 37 6 56297202 56297202 + RNA SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 56297202 56297202 C T SNP ENSG00000266793 ENST00000578149 human ensembl 74_37 -1 novel rna NULL NULL 1.000 - - - no_errors AL137008.1 Clone_based_ensembl_gene ENSG00000266793 67 0 0 34 8 19.0476 DST 0 genome.wustl.edu 37 6 56420259 56420259 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 56420259 56420259 G A SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.14927 p.A4976V 1.000 superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 111 0 0 47 29 38.1579 HUS1B 0 genome.wustl.edu 37 6 656858 656858 + Silent SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 656858 656858 G T SNP HUS1B ENST00000380907 human ensembl 74_37 -1 known silent c.87 p.V29 0.000 pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1 pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1 - no_errors HUS1B HGNC ENSG00000188996 76 0 0 20 13 39.3939 EYS 0 genome.wustl.edu 37 6 66204765 66204765 + Nonsense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 66204765 66204765 G T SNP EYS ENST00000370616 human ensembl 74_37 -1 known nonsense c.539 p.S180* 0.040 smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 75 0 0 37 20 35.0877 BAI3 0 genome.wustl.edu 37 6 70037717 70037717 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 70037717 70037717 C A SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.2971 p.P991T 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 77 0 0 28 9 24.3243 FAM135A 0 genome.wustl.edu 37 6 71235709 71235709 + Silent SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 71235709 71235709 A G SNP FAM135A ENST00000418814 human ensembl 74_37 +1 known silent c.2922 p.L974 0.299 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase - no_errors FAM135A HGNC ENSG00000082269 46 0 0 24 3 11.1111 MB21D1 0 genome.wustl.edu 37 6 74161472 74161472 + Missense_Mutation SNP C C G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 74161472 74161472 C G SNP MB21D1 ENST00000370315 human ensembl 74_37 -1 known missense c.433 p.G145R 0.000 NULL pfam_Mab-21_dom - no_errors MB21D1 HGNC ENSG00000164430 31 0 0 17 4 19.0476 SENP6 0 genome.wustl.edu 37 6 76412665 76412665 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 76412665 76412665 A C SNP SENP6 ENST00000370014 human ensembl 74_37 +1 known missense c.2593 p.N865H 1.000 pfscan_Peptidase_C48 pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP6 HGNC ENSG00000112701 171 0 0 79 28 26.1682 HTR1B 0 genome.wustl.edu 37 6 78172572 78172572 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 78172572 78172572 C T SNP HTR1B ENST00000369947 human ensembl 74_37 -1 known silent c.549 p.P183 0.995 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1B_rcpt,prints_5HT_rcpt,prints_ADR_fam - no_errors HTR1B HGNC ENSG00000135312 148 0 0 67 19 22.093 HMGN3 0 genome.wustl.edu 37 6 79918293 79918293 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 79918293 79918293 G A SNP HMGN3 ENST00000344726 human ensembl 74_37 -1 known missense c.67 p.P23S 1.000 pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam - no_errors HMGN3 HGNC ENSG00000118418 219 0 0 122 38 23.75 MDN1 0 genome.wustl.edu 37 6 90377778 90377778 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 90377778 90377778 G A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known silent c.14049 p.G4683 0.131 superfamily_ARM-type_fold,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 143 0 0 85 24 22.0183 MDN1 0 genome.wustl.edu 37 6 90428516 90428516 + Missense_Mutation SNP A A T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 90428516 90428516 A T SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.6291 p.D2097E 0.998 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 176 0 0 107 40 27.2109 BACH2 0 genome.wustl.edu 37 6 90642334 90642334 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 90642334 90642334 G A SNP BACH2 ENST00000257749 human ensembl 74_37 -1 known silent c.2319 p.G773 0.000 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 117 0 0 56 22 28.2051 MMS22L 0 genome.wustl.edu 37 6 97634485 97634485 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 97634485 97634485 C A SNP MMS22L ENST00000275053 human ensembl 74_37 -1 known missense c.2121 p.E707D 1.000 NULL superfamily_ARM-type_fold - no_errors MMS22L HGNC ENSG00000146263 85 0 0 70 8 10.2564 ZAN 0 genome.wustl.edu 37 7 100350317 100350317 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 100350317 100350317 A C SNP ZAN ENST00000546292 human ensembl 74_37 +1 known missense c.2589 p.K863N 0.000 NULL pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 138 0 0 47 24 33.8028 EPHB4 0 genome.wustl.edu 37 7 100401094 100401094 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 100401094 100401094 G T SNP EPHB4 ENST00000358173 human ensembl 74_37 -1 known missense c.2953 p.P985T 0.410 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB4 HGNC ENSG00000196411 10 0 0 9 3 25 TRIP6 0 genome.wustl.edu 37 7 100470351 100470351 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 100470351 100470351 C T SNP TRIP6 ENST00000200457 human ensembl 74_37 +1 known silent c.1284 p.G428 0.998 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors TRIP6 HGNC ENSG00000087077 107 1 0.925926 35 10 22.2222 ACHE 0 genome.wustl.edu 37 7 100488956 100488956 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 100488956 100488956 A G SNP ACHE ENST00000454485 human ensembl 74_37 -1 known missense c.1204 p.S402P 1.000 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors ACHE HGNC ENSG00000087085 93 0 0 28 11 28.2051 NAT16 0 genome.wustl.edu 37 7 100815807 100815807 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 100815807 100815807 G A SNP NAT16 ENST00000300303 human ensembl 74_37 -1 known silent c.663 p.G221 0.001 NULL superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT16 HGNC ENSG00000167011 20 0 0 6 6 50 SLC26A3 0 genome.wustl.edu 37 7 107423730 107423730 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 107423730 107423730 C T SNP SLC26A3 ENST00000340010 human ensembl 74_37 -1 known missense c.1039 p.A347T 1.000 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A3 HGNC ENSG00000091138 121 0 0 36 22 37.931 LAMB4 0 genome.wustl.edu 37 7 107696398 107696398 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 107696398 107696398 C A SNP LAMB4 ENST00000205386 human ensembl 74_37 -1 known missense c.3434 p.G1145V 0.932 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 93 0 0 34 24 41.3793 ENSG00000226851 0 genome.wustl.edu 37 7 111981124 111981124 + RNA SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 111981124 111981124 T G SNP ENSG00000226851 ENST00000411413 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors AC004112.4 Clone_based_vega_gene ENSG00000226851 46 0 0 22 8 26.6667 THSD7A 0 genome.wustl.edu 37 7 11514158 11514158 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 11514158 11514158 T G SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known missense c.2055 p.E685D 0.910 pfam_Thrombospondin_1_rpt,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 THSD7A HGNC ENSG00000005108 68 0 0 43 19 30.6452 CTTNBP2 0 genome.wustl.edu 37 7 117432385 117432385 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 117432385 117432385 G A SNP CTTNBP2 ENST00000160373 human ensembl 74_37 -1 known missense c.865 p.R289C 0.972 NULL pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 143 0 0 49 34 40.9639 KCND2 0 genome.wustl.edu 37 7 119915384 119915384 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 119915384 119915384 A G SNP KCND2 ENST00000331113 human ensembl 74_37 +1 known missense c.698 p.D233G 1.000 pfam_Ion_trans_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv4 pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 84 0 0 32 11 25.5814 UNCX 0 genome.wustl.edu 37 7 1275539 1275539 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 1275539 1275539 G A SNP UNCX ENST00000316333 human ensembl 74_37 +1 known silent c.522 p.A174 0.885 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors UNCX HGNC ENSG00000164853 40 0 0 29 11 27.5 LRRC4 0 genome.wustl.edu 37 7 127669503 127669503 + Silent SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 127669503 127669503 G T SNP LRRC4 ENST00000249363 human ensembl 74_37 -1 known silent c.1191 p.R397 0.998 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4 HGNC ENSG00000128594 129 0 0 53 4 7.01754 LRRC4 0 genome.wustl.edu 37 7 127669511 127669511 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 127669511 127669511 C T SNP LRRC4 ENST00000249363 human ensembl 74_37 -1 known missense c.1183 p.A395T 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4 HGNC ENSG00000128594 132 0 0 41 11 21.1538 IRF5 0 genome.wustl.edu 37 7 128587086 128587086 + Missense_Mutation SNP A A T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 128587086 128587086 A T SNP IRF5 ENST00000357234 human ensembl 74_37 +1 known missense c.457 p.M153L 1.000 NULL pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF5 HGNC ENSG00000128604 141 0 0 49 22 30.9859 EXOC4 0 genome.wustl.edu 37 7 133059628 133059628 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 133059628 133059628 G A SNP EXOC4 ENST00000253861 human ensembl 74_37 +1 known missense c.1054 p.V352I 1.000 NULL pfam_Sec8_exocyst - no_errors EXOC4 HGNC ENSG00000131558 96 0 0 45 17 27.4194 EXOC4 0 genome.wustl.edu 37 7 133749275 133749275 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 133749275 133749275 C T SNP EXOC4 ENST00000253861 human ensembl 74_37 +1 known silent c.2919 p.T973 0.050 NULL pfam_Sec8_exocyst - no_errors EXOC4 HGNC ENSG00000131558 135 0 0 48 23 32.3944 FAM180A 0 genome.wustl.edu 37 7 135418799 135418799 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 135418799 135418799 G A SNP FAM180A ENST00000338588 human ensembl 74_37 -1 known missense c.446 p.A149V 1.000 NULL NULL - no_errors FAM180A HGNC ENSG00000189320 69 0 0 23 24 51.0638 CHRM2 0 genome.wustl.edu 37 7 136700065 136700065 + Silent SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 136700065 136700065 T G SNP CHRM2 ENST00000320658 human ensembl 74_37 +1 known silent c.453 p.S151 0.942 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 150 0 0 54 31 36.4706 MKRN1 0 genome.wustl.edu 37 7 140159029 140159029 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 140159029 140159029 C T SNP MKRN1 ENST00000255977 human ensembl 74_37 -1 known silent c.549 p.A183 0.985 NULL pfam_Znf_CCCH,pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN1 HGNC ENSG00000133606 108 0 0 44 22 33.3333 EPHA1 0 genome.wustl.edu 37 7 143096040 143096040 + Splice_Site SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 143096040 143096040 T C SNP EPHA1 ENST00000275815 human ensembl 74_37 -1 known splice_site c.992-2 e6-2 1.000 - - - no_errors EPHA1 HGNC ENSG00000146904 18 0 0 5 4 44.4444 EPHA1 0 genome.wustl.edu 37 7 143096757 143096757 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 143096757 143096757 G A SNP EPHA1 ENST00000275815 human ensembl 74_37 -1 known silent c.822 p.G274 0.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA1 HGNC ENSG00000146904 121 0 0 49 18 26.8657 CNTNAP2 0 genome.wustl.edu 37 7 146997365 146997365 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 146997365 146997365 A G SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.1481 p.E494G 0.872 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 95 0 0 8 44 84.6154 DGKB 0 genome.wustl.edu 37 7 14722438 14722438 + Silent SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 14722438 14722438 A G SNP DGKB ENST00000258767 human ensembl 74_37 -1 known silent c.858 p.C286 0.998 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKB HGNC ENSG00000136267 11 0 0 12 3 20 TMUB1 0 genome.wustl.edu 37 7 150779570 150779570 + Silent SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 150779570 150779570 G T SNP TMUB1 ENST00000297533 human ensembl 74_37 -1 known silent c.81 p.A27 1.000 NULL pfam_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors TMUB1 HGNC ENSG00000164897 150 0 0 79 8 9.1954 ASB10 0 genome.wustl.edu 37 7 150883948 150883948 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 150883948 150883948 G A SNP ASB10 ENST00000422024 human ensembl 74_37 -1 known silent c.405 p.S135 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB10 HGNC ENSG00000146926 40 0 0 20 2 9.09091 INTS1 0 genome.wustl.edu 37 7 1539932 1539932 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 1539932 1539932 G A SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known silent c.804 p.G268 0.020 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 23 0 0 18 5 21.7391 ABCB5 0 genome.wustl.edu 37 7 20778637 20778637 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 20778637 20778637 G A SNP ABCB5 ENST00000258738 human ensembl 74_37 +1 known missense c.1564 p.A522T 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB5 HGNC ENSG00000004846 49 0 0 31 11 26.1905 ABCB5 0 genome.wustl.edu 37 7 20778696 20778696 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 20778696 20778696 G A SNP ABCB5 ENST00000258738 human ensembl 74_37 +1 known silent c.1623 p.A541 0.110 superfamily_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB5 HGNC ENSG00000004846 43 0 0 23 8 25.8065 DNAH11 0 genome.wustl.edu 37 7 21628211 21628211 + Nonsense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 21628211 21628211 C T SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known nonsense c.1930 p.R644* 0.978 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 143 0 0 38 44 53.6585 IGF2BP3 0 genome.wustl.edu 37 7 23352441 23352441 + Silent SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 23352441 23352441 A G SNP IGF2BP3 ENST00000258729 human ensembl 74_37 -1 known silent c.1554 p.S518 0.999 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP3 HGNC ENSG00000136231 70 0 0 42 3 6.66667 HOXA7 0 genome.wustl.edu 37 7 27194754 27194754 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 27194754 27194754 G A SNP HOXA7 ENST00000242159 human ensembl 74_37 -1 known missense c.467 p.T156M 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA7 HGNC ENSG00000122592 270 0 0 159 9 5.35714 AMZ1 0 genome.wustl.edu 37 7 2740115 2740115 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 2740115 2740115 C T SNP AMZ1 ENST00000312371 human ensembl 74_37 +1 known silent c.30 p.F10 1.000 NULL pfam_Pept_M54_archaemetzincn - no_errors AMZ1 HGNC ENSG00000174945 167 0 0 58 46 44.2308 HIBADH 0 genome.wustl.edu 37 7 27570865 27570865 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 27570865 27570865 G A SNP HIBADH ENST00000265395 human ensembl 74_37 -1 known silent c.798 p.G266 0.234 superfamily_6-PGluconate_DH_C-like,tigrfam_IsoBut3OH_DH pfam_6PGDH_NADP-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,superfamily_6-PGluconate_DH_C-like,tigrfam_IsoBut3OH_DH - no_errors HIBADH HGNC ENSG00000106049 118 0 0 54 17 23.9437 NOD1 0 genome.wustl.edu 37 7 30491130 30491130 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 30491130 30491130 G T SNP NOD1 ENST00000222823 human ensembl 74_37 -1 known missense c.1903 p.L635M 0.979 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD1 HGNC ENSG00000106100 40 0 0 20 5 20 KBTBD2 0 genome.wustl.edu 37 7 32909192 32909192 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 32909192 32909192 C T SNP KBTBD2 ENST00000304056 human ensembl 74_37 -1 known missense c.1637 p.R546Q 1.000 pirsf_Kelch-like_gigaxonin pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD2 HGNC ENSG00000170852 230 0 0 120 37 23.5669 EEPD1 0 genome.wustl.edu 37 7 36336702 36336702 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 36336702 36336702 G A SNP EEPD1 ENST00000242108 human ensembl 74_37 +1 known silent c.1416 p.A472 0.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_HhH_motif,pfam_Endo/exonuclease/phosphatase,pfam_GspK,superfamily_Endo/exonuclease/phosphatase,superfamily_RuvA_2-like,smart_Hlx-hairpin-Hlx_DNA-bd_motif,tigrfam_Competence_ComEA_HhH - no_errors EEPD1 HGNC ENSG00000122547 89 0 0 40 19 32.2034 GPR141 0 genome.wustl.edu 37 7 37780105 37780105 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 37780105 37780105 C A SNP GPR141 ENST00000334425 human ensembl 74_37 +1 known missense c.110 p.S37Y 0.999 pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR141 HGNC ENSG00000187037 114 0 0 57 22 27.8481 STARD3NL 0 genome.wustl.edu 37 7 38254699 38254699 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 38254699 38254699 C T SNP STARD3NL ENST00000009041 human ensembl 74_37 +1 known missense c.374 p.A125V 1.000 pfam_MENTAL pfam_MENTAL - no_errors STARD3NL HGNC ENSG00000010270 60 0 0 39 9 18.75 FAM183B 0 genome.wustl.edu 37 7 38725208 38725208 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 38725208 38725208 C T SNP FAM183B ENST00000409072 human ensembl 74_37 -1 novel missense c.398 p.R133H 0.026 NULL NULL - no_errors FAM183B HGNC ENSG00000164556 343 0 0 180 51 22.0779 VPS41 0 genome.wustl.edu 37 7 38908811 38908811 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 38908811 38908811 G T SNP VPS41 ENST00000310301 human ensembl 74_37 -1 known missense c.103 p.L35I 1.000 pirsf_VPS41 pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING - no_errors VPS41 HGNC ENSG00000006715 183 0 0 121 40 24.8447 POU6F2 0 genome.wustl.edu 37 7 39503921 39503921 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 39503921 39503921 C T SNP POU6F2 ENST00000403058 human ensembl 74_37 +1 known missense c.1712 p.A571V 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC ENSG00000106536 97 0 0 52 23 30.6667 C7orf25 0 genome.wustl.edu 37 7 42950258 42950258 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 42950258 42950258 T G SNP C7orf25 ENST00000431882 human ensembl 74_37 -1 known missense c.416 p.N139T 1.000 pfam_DUF1308 pfam_DUF1308 - no_errors C7orf25 HGNC ENSG00000136197 226 0 0 142 18 11.25 MRPL32 0 genome.wustl.edu 37 7 42972066 42972066 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 42972066 42972066 G A SNP MRPL32 ENST00000223324 human ensembl 74_37 +1 known silent c.81 p.L27 0.001 NULL pfam_Ribosomal_L32p,superfamily_Ribosomal_zn-bd - no_errors MRPL32 HGNC ENSG00000106591 42 0 0 19 10 34.4828 HECW1 0 genome.wustl.edu 37 7 43351499 43351499 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 43351499 43351499 C T SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known silent c.165 p.G55 0.005 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 82 0 0 54 16 22.8571 AEBP1 0 genome.wustl.edu 37 7 44150328 44150328 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 44150328 44150328 G A SNP AEBP1 ENST00000223357 human ensembl 74_37 +1 known missense c.1405 p.D469N 0.999 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 255 0 0 172 18 9.47368 NPC1L1 0 genome.wustl.edu 37 7 44556414 44556414 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 44556414 44556414 C T SNP NPC1L1 ENST00000289547 human ensembl 74_37 -1 known missense c.3488 p.R1163H 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 70 0 0 32 7 17.9487 CCM2 0 genome.wustl.edu 37 7 45113138 45113138 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 45113138 45113138 G A SNP CCM2 ENST00000381112 human ensembl 74_37 +1 known missense c.946 p.A316T 0.974 NULL pfscan_PTB/PI_dom - no_errors CCM2 HGNC ENSG00000136280 61 0 0 23 13 36.1111 IGFBP3 0 genome.wustl.edu 37 7 45954540 45954540 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 45954540 45954540 C T SNP IGFBP3 ENST00000381083 human ensembl 74_37 -1 known missense c.773 p.R258H 1.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,prints_IGFBP_1-6_chordata,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-3,pfscan_Thyroglobulin_1 - no_errors IGFBP3 HGNC ENSG00000146674 109 0 0 68 4 5.55556 TNS3 0 genome.wustl.edu 37 7 47344501 47344501 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 47344501 47344501 C T SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known silent c.2751 p.T917 0.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 64 0 0 31 12 27.907 ABCA13 0 genome.wustl.edu 37 7 48280634 48280634 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 48280634 48280634 C T SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known silent c.1233 p.G411 0.001 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 160 0 0 87 27 23.6842 POM121L12 0 genome.wustl.edu 37 7 53104180 53104180 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 53104180 53104180 G A SNP POM121L12 ENST00000408890 human ensembl 74_37 +1 known silent c.816 p.T272 0.000 NULL NULL - no_errors POM121L12 HGNC ENSG00000221900 143 0 0 77 21 21.4286 ACTB 0 genome.wustl.edu 37 7 5569018 5569018 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 5569018 5569018 C A SNP ACTB ENST00000331789 human ensembl 74_37 -1 known missense c.137 p.G46V 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTB HGNC ENSG00000075624 216 0 0 104 34 24.6377 AIMP2 0 genome.wustl.edu 37 7 6057564 6057564 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 6057564 6057564 G A SNP AIMP2 ENST00000223029 human ensembl 74_37 +1 known silent c.462 p.T154 0.074 NULL superfamily_Glutathione-S-Trfase_C-like - no_errors AIMP2 HGNC ENSG00000106305 54 0 0 46 4 8 ZNF680 0 genome.wustl.edu 37 7 63982401 63982401 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 63982401 63982401 C T SNP ZNF680 ENST00000309683 human ensembl 74_37 -1 known missense c.731 p.G244D 0.994 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 ZNF680 HGNC ENSG00000173041 35 0 0 22 3 12 CCT6P3 0 genome.wustl.edu 37 7 64528866 64528866 + RNA SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 64528866 64528866 C T SNP CCT6P3 ENST00000426828 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CCT6P3 HGNC ENSG00000234585 27 0 0 8 3 27.2727 C7orf26 0 genome.wustl.edu 37 7 6639900 6639900 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 6639900 6639900 G A SNP C7orf26 ENST00000344417 human ensembl 74_37 +1 known missense c.1021 p.A341T 1.000 NULL NULL - no_errors C7orf26 HGNC ENSG00000146576 56 0 0 45 18 28.5714 AUTS2 0 genome.wustl.edu 37 7 70254795 70254795 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 70254795 70254795 G T SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known missense c.2593 p.A865S 0.967 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 99 0 0 28 46 62.1622 WBSCR17 0 genome.wustl.edu 37 7 70597954 70597954 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 70597954 70597954 G A SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known missense c.166 p.A56T 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 WBSCR17 HGNC ENSG00000185274 44 0 0 27 9 25 TRIM74 0 genome.wustl.edu 37 7 72430662 72430662 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 72430662 72430662 C T SNP TRIM74 ENST00000285805 human ensembl 74_37 -1 known missense c.616 p.A206T 0.998 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM74 HGNC ENSG00000155428 54 0 0 24 9 27.2727 NSUN5 0 genome.wustl.edu 37 7 72717442 72717442 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 72717442 72717442 T G SNP NSUN5 ENST00000310326 human ensembl 74_37 -1 novel missense c.1366 p.S456R 0.000 NULL pfam_Fmu/NOL1/Nop2p,prints_RCMT - no_errors NSUN5 HGNC ENSG00000130305 127 0 0 55 19 25.6757 FZD9 0 genome.wustl.edu 37 7 72849230 72849230 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 72849230 72849230 C T SNP FZD9 ENST00000344575 human ensembl 74_37 +1 known missense c.893 p.A298V 0.994 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 FZD9 HGNC ENSG00000188763 176 1 0.564972 82 33 28.6957 MLXIPL 0 genome.wustl.edu 37 7 73013902 73013902 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 73013902 73013902 G A SNP MLXIPL ENST00000313375 human ensembl 74_37 -1 known missense c.1025 p.P342L 0.002 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLXIPL HGNC ENSG00000009950 121 0 0 77 5 6.09756 WBSCR22 0 genome.wustl.edu 37 7 73098116 73098116 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 73098116 73098116 C T SNP WBSCR22 ENST00000265758 human ensembl 74_37 +1 known missense c.68 p.A23V 1.000 NULL pfam_Unchr_MeTrfase_Williams-Beuren,pfam_Methyltransf_11 - no_errors WBSCR22 HGNC ENSG00000071462 192 0 0 140 10 6.66667 HIP1 0 genome.wustl.edu 37 7 75192520 75192520 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 75192520 75192520 C T SNP HIP1 ENST00000336926 human ensembl 74_37 -1 known missense c.851 p.R284Q 1.000 pfam_ANTH_dom,superfamily_ARM-type_fold pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom - no_errors HIP1 HGNC ENSG00000127946 98 0 0 51 18 26.087 SRRM3 0 genome.wustl.edu 37 7 75896681 75896681 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 75896681 75896681 G A SNP SRRM3 ENST00000388802 human ensembl 74_37 +1 known silent c.936 p.Q312 1.000 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM3 HGNC ENSG00000177679 8 0 0 5 4 44.4444 PHTF2 0 genome.wustl.edu 37 7 77569849 77569849 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 77569849 77569849 T C SNP PHTF2 ENST00000248550 human ensembl 74_37 +1 known missense c.1745 p.L582S 1.000 NULL pfam_TF_homeodomain_male - no_errors PHTF2 HGNC ENSG00000006576 49 0 0 42 9 17.6471 MAGI2 0 genome.wustl.edu 37 7 78636429 78636429 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 78636429 78636429 T C SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known missense c.395 p.N132S 1.000 superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 156 0 0 132 24 15.3846 SEMA3C 0 genome.wustl.edu 37 7 80374227 80374227 + Nonsense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 80374227 80374227 G A SNP SEMA3C ENST00000544525 human ensembl 74_37 -1 known nonsense c.2293 p.Q765* 1.000 NULL pfam_Semap_dom,pfam_Ig_I-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3C HGNC ENSG00000075223 139 0 0 153 25 14.0449 SEMA3C 0 genome.wustl.edu 37 7 80418778 80418778 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 80418778 80418778 A C SNP SEMA3C ENST00000544525 human ensembl 74_37 -1 known missense c.1252 p.F418V 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Ig_I-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3C HGNC ENSG00000075223 64 0 0 60 14 18.9189 PCLO 0 genome.wustl.edu 37 7 82785132 82785132 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 82785132 82785132 T G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.825 p.Q275H 0.871 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 73 0 0 61 12 16.4384 SEMA3A 0 genome.wustl.edu 37 7 83590976 83590976 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 83590976 83590976 A C SNP SEMA3A ENST00000265362 human ensembl 74_37 -1 known missense c.2027 p.L676R 1.000 NULL pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3A HGNC ENSG00000075213 162 0 0 171 40 18.9573 SEMA3D 0 genome.wustl.edu 37 7 84642152 84642152 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 84642152 84642152 G A SNP SEMA3D ENST00000284136 human ensembl 74_37 -1 known missense c.1714 p.R572C 1.000 superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Semap_dom,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3D HGNC ENSG00000153993 77 0 0 67 59 46.8254 CROT 0 genome.wustl.edu 37 7 87021891 87021891 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 87021891 87021891 C T SNP CROT ENST00000331536 human ensembl 74_37 +1 known missense c.1435 p.R479W 0.005 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CROT HGNC ENSG00000005469 140 0 0 174 23 11.6751 ZNF804B 0 genome.wustl.edu 37 7 88963494 88963494 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 88963494 88963494 C T SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.1198 p.H400Y 0.001 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 47 0 0 98 14 12.5 ZNF804B 0 genome.wustl.edu 37 7 88964271 88964271 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 88964271 88964271 A G SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.1975 p.S659G 0.003 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 123 0 0 161 15 8.52273 ZNF804B 0 genome.wustl.edu 37 7 88965847 88965847 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 88965847 88965847 C A SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.3551 p.A1184E 0.078 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 100 1 0.990099 154 24 13.4831 ZNF804B 0 genome.wustl.edu 37 7 88966259 88966259 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 88966259 88966259 A C SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.3963 p.Q1321H 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 217 0 0 125 281 69.2118 STEAP2 0 genome.wustl.edu 37 7 89861856 89861856 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 89861856 89861856 G A SNP STEAP2 ENST00000287908 human ensembl 74_37 +1 known missense c.1391 p.G464D 1.000 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP2 HGNC ENSG00000157214 57 0 0 102 11 9.73451 AKAP9 0 genome.wustl.edu 37 7 91691589 91691589 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 91691589 91691589 C T SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known silent c.5802 p.G1934 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 115 0 0 230 15 6.12245 PEX1 0 genome.wustl.edu 37 7 92122435 92122435 + Silent SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 92122435 92122435 A G SNP PEX1 ENST00000248633 human ensembl 74_37 -1 known silent c.3039 p.R1013 0.986 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_Peroxisome_synth_fac_1_a/b,pfam_PEX-1N,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase - no_errors PEX1 HGNC ENSG00000127980 91 0 0 222 24 9.7561 PEX1 0 genome.wustl.edu 37 7 92134057 92134057 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 92134057 92134057 C T SNP PEX1 ENST00000248633 human ensembl 74_37 -1 known missense c.2060 p.R687Q 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Peroxisome_synth_fac_1_a/b,pfam_PEX-1N,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase - no_errors PEX1 HGNC ENSG00000127980 127 0 0 252 19 7.01107 PEX1 0 genome.wustl.edu 37 7 92147474 92147474 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 92147474 92147474 C T SNP PEX1 ENST00000248633 human ensembl 74_37 -1 known silent c.453 p.T151 0.384 pfam_PEX-1N pfam_ATPase_AAA_core,pfam_Peroxisome_synth_fac_1_a/b,pfam_PEX-1N,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase - no_errors PEX1 HGNC ENSG00000127980 95 0 0 258 25 8.83392 SAMD9L 0 genome.wustl.edu 37 7 92761948 92761948 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 92761948 92761948 C A SNP SAMD9L ENST00000318238 human ensembl 74_37 -1 known missense c.3337 p.A1113S 0.870 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 165 0 0 459 29 5.94262 ASB4 0 genome.wustl.edu 37 7 95157167 95157167 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 95157167 95157167 C T SNP ASB4 ENST00000325885 human ensembl 74_37 +1 known missense c.530 p.T177M 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB4 HGNC ENSG00000005981 72 0 0 23 12 34.2857 LMTK2 0 genome.wustl.edu 37 7 97800932 97800932 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 97800932 97800932 C T SNP LMTK2 ENST00000297293 human ensembl 74_37 +1 known missense c.737 p.A246V 0.997 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 120 0 0 33 19 36.5385 TECPR1 0 genome.wustl.edu 37 7 97852434 97852434 + Silent SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 97852434 97852434 G T SNP TECPR1 ENST00000379795 human ensembl 74_37 -1 known silent c.2802 p.I934 0.027 NULL pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin - no_errors TECPR1 HGNC ENSG00000205356 27 0 0 1 4 80 TRRAP 0 genome.wustl.edu 37 7 98559056 98559056 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 98559056 98559056 G T SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.6641 p.S2214I 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 138 0 0 44 24 35.2941 TRRAP 0 genome.wustl.edu 37 7 98559094 98559094 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 98559094 98559094 C T SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.6679 p.P2227S 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 119 0 0 38 19 33.3333 OR2AE1 0 genome.wustl.edu 37 7 99473841 99473841 + Silent SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 99473841 99473841 A G SNP OR2AE1 ENST00000316368 human ensembl 74_37 -1 known silent c.816 p.V272 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AE1 HGNC ENSG00000244623 180 0 0 66 29 30.5263 RGS22 0 genome.wustl.edu 37 8 101011503 101011503 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 101011503 101011503 C T SNP RGS22 ENST00000360863 human ensembl 74_37 -1 known missense c.2936 p.R979H 1.000 superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 57 0 0 47 10 17.5439 UBR5 0 genome.wustl.edu 37 8 103274146 103274146 + Silent SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 103274146 103274146 T C SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known silent c.7839 p.G2613 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 161 0 0 135 18 11.7647 UBR5 0 genome.wustl.edu 37 8 103282387 103282387 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 103282387 103282387 G A SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known silent c.7110 p.I2370 0.917 superfamily_HECT,superfamily_PABP_HYD pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 158 1 0.628931 126 9 6.66667 UBR5 0 genome.wustl.edu 37 8 103310701 103310701 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 103310701 103310701 T G SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known missense c.3343 p.T1115P 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 68 0 0 50 13 20.6349 DCAF13 0 genome.wustl.edu 37 8 104447873 104447873 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 104447873 104447873 C T SNP DCAF13 ENST00000297579 human ensembl 74_37 +1 known missense c.1261 p.R421C 1.000 pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Sof1,pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 98 0 0 93 7 7 RIMS2 0 genome.wustl.edu 37 8 104898096 104898096 + Silent SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 104898096 104898096 T G SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known silent c.1269 p.S423 0.998 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 91 0 0 65 20 23.5294 RIMS2 0 genome.wustl.edu 37 8 105235915 105235915 + Silent SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 105235915 105235915 G T SNP RIMS2 ENST00000339750 human ensembl 74_37 +1 known silent c.36 p.A12 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RIMS2 HGNC ENSG00000176406 20 0 0 19 9 32.1429 CSMD3 0 genome.wustl.edu 37 8 113988259 113988259 + Silent SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 113988259 113988259 T C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.1149 p.T383 1.000 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 127 0 0 98 35 26.3158 TRPS1 0 genome.wustl.edu 37 8 116631441 116631441 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 116631441 116631441 A G SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.884 p.V295A 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 72 0 0 44 10 18.5185 SLC30A8 0 genome.wustl.edu 37 8 118169969 118169969 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 118169969 118169969 T C SNP SLC30A8 ENST00000456015 human ensembl 74_37 +1 known missense c.458 p.V153A 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A8 HGNC ENSG00000164756 253 1 0.393701 138 53 27.7487 TNFRSF11B 0 genome.wustl.edu 37 8 119936808 119936808 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 119936808 119936808 G A SNP TNFRSF11B ENST00000297350 human ensembl 74_37 -1 known silent c.1011 p.G337 0.000 pirsf_TNFR_11B,pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain pirsf_TNFR_11B,pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_11B,prints_TNFR_11,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF11B HGNC ENSG00000164761 231 0 0 128 49 27.6836 ENPP2 0 genome.wustl.edu 37 8 120613700 120613700 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 120613700 120613700 A G SNP ENPP2 ENST00000259486 human ensembl 74_37 -1 known missense c.836 p.V279A 0.690 superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENSG00000136960 136 0 0 90 21 18.9189 MRPL13 0 genome.wustl.edu 37 8 121426273 121426273 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 121426273 121426273 A G SNP MRPL13 ENST00000306185 human ensembl 74_37 -1 known missense c.472 p.Y158H 1.000 superfamily_Ribosomal_L13_dom,pirsf_Ribosomal_L13 pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,pirsf_Ribosomal_L13,tigrfam_Ribosomal_L13_bac-type - no_errors MRPL13 HGNC ENSG00000172172 117 0 0 73 7 8.75 FBXO32 0 genome.wustl.edu 37 8 124526525 124526525 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 124526525 124526525 C T SNP FBXO32 ENST00000517956 human ensembl 74_37 -1 known missense c.421 p.A141T 1.000 NULL superfamily_F-box_dom - no_errors FBXO32 HGNC ENSG00000156804 47 0 0 29 16 35.5556 ASAP1 0 genome.wustl.edu 37 8 131226856 131226856 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 131226856 131226856 C T SNP ASAP1 ENST00000357668 human ensembl 74_37 -1 known silent c.351 p.A117 1.000 NULL pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ENSG00000153317 92 0 0 40 8 16.6667 TMEM71 0 genome.wustl.edu 37 8 133726256 133726256 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 133726256 133726256 G T SNP TMEM71 ENST00000356838 human ensembl 74_37 -1 known missense c.800 p.T267N 0.028 NULL NULL - no_errors TMEM71 HGNC ENSG00000165071 56 0 0 42 10 19.2308 TG 0 genome.wustl.edu 37 8 133898733 133898733 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 133898733 133898733 G A SNP TG ENST00000220616 human ensembl 74_37 +1 known silent c.1116 p.L372 1.000 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 226 0 0 131 12 8.39161 TG 0 genome.wustl.edu 37 8 133899503 133899503 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 133899503 133899503 T C SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.1886 p.V629A 0.999 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 137 0 0 73 27 27 DENND3 0 genome.wustl.edu 37 8 142185496 142185496 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 142185496 142185496 C A SNP DENND3 ENST00000262585 human ensembl 74_37 +1 known missense c.2233 p.L745M 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom - no_errors DENND3 HGNC ENSG00000105339 163 0 0 80 24 23.0769 SLC52A2 0 genome.wustl.edu 37 8 145584466 145584466 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 145584466 145584466 C A SNP SLC52A2 ENST00000329994 human ensembl 74_37 +1 known missense c.1129 p.L377M 0.604 NULL pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A2 HGNC ENSG00000185803 103 0 0 67 13 16.25 RECQL4 0 genome.wustl.edu 37 8 145738385 145738385 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 145738385 145738385 G A SNP RECQL4 ENST00000428558 human ensembl 74_37 -1 known missense c.2600 p.A867V 0.000 NULL pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DNA_rep_checkpnt_protein,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL4 HGNC ENSG00000160957 14 0 0 6 3 33.3333 PSD3 0 genome.wustl.edu 37 8 18490163 18490163 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 18490163 18490163 G T SNP PSD3 ENST00000440756 human ensembl 74_37 -1 known missense c.2376 p.F792L 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors PSD3 HGNC ENSG00000156011 136 0 0 39 16 29.0909 ZNF596 0 genome.wustl.edu 37 8 195870 195870 + Silent SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 195870 195870 A G SNP ZNF596 ENST00000308811 human ensembl 74_37 +1 known silent c.1023 p.G341 1.000 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 ZNF596 HGNC ENSG00000172748 55 0 0 4 7 63.6364 FAM160B2 0 genome.wustl.edu 37 8 21960331 21960331 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 21960331 21960331 C T SNP FAM160B2 ENST00000289921 human ensembl 74_37 +1 known silent c.2121 p.G707 0.030 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160B2 HGNC ENSG00000158863 71 0 0 11 14 56 KIF13B 0 genome.wustl.edu 37 8 28989840 28989840 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 28989840 28989840 C T SNP KIF13B ENST00000524189 human ensembl 74_37 -1 known missense c.2927 p.R976H 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 110 0 0 23 28 54.902 KIF13B 0 genome.wustl.edu 37 8 28991587 28991587 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 28991587 28991587 C T SNP KIF13B ENST00000524189 human ensembl 74_37 -1 known silent c.2754 p.P918 0.026 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 48 0 0 6 6 50 RBPMS 0 genome.wustl.edu 37 8 30407035 30407035 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 30407035 30407035 G A SNP RBPMS ENST00000287771 human ensembl 74_37 +1 known missense c.547 p.V183M 0.008 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBPMS HGNC ENSG00000157110 157 0 0 39 3 7.14286 FGFR1 0 genome.wustl.edu 37 8 38273508 38273508 + Silent SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 38273508 38273508 G T SNP FGFR1 ENST00000425967 human ensembl 74_37 -1 known silent c.1827 p.P609 0.531 pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR1 HGNC ENSG00000077782 58 0 0 17 6 26.087 ADAM2 0 genome.wustl.edu 37 8 39644512 39644512 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 39644512 39644512 T C SNP ADAM2 ENST00000265708 human ensembl 74_37 -1 known missense c.872 p.Y291C 0.006 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM2 HGNC ENSG00000104755 85 0 0 26 22 45.8333 IDO1 0 genome.wustl.edu 37 8 39775722 39775722 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 39775722 39775722 G T SNP IDO1 ENST00000518237 human ensembl 74_37 +1 known missense c.299 p.R100L 0.000 pfam_Indolamine_dOase pfam_Indolamine_dOase - no_errors IDO1 HGNC ENSG00000131203 129 0 0 26 18 40.9091 KAT6A 0 genome.wustl.edu 37 8 41791415 41791415 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 41791415 41791415 G A SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known silent c.4323 p.G1441 0.072 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 207 1 0.480769 84 20 19.2308 PRKDC 0 genome.wustl.edu 37 8 48777241 48777241 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 48777241 48777241 C T SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.5444 p.R1815H 1.000 pfam_NUC194,superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 27 0 0 4 4 50 MOS 0 genome.wustl.edu 37 8 57026083 57026083 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 57026083 57026083 G A SNP MOS ENST00000311923 human ensembl 74_37 -1 known silent c.459 p.G153 0.001 pfam_Prot_kinase_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_dom pfam_Prot_kinase_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_dom - no_errors MOS HGNC ENSG00000172680 125 0 0 46 17 26.9841 CA8 0 genome.wustl.edu 37 8 61192348 61192348 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 61192348 61192348 C T SNP CA8 ENST00000317995 human ensembl 74_37 -1 known silent c.192 p.S64 0.014 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA8 HGNC ENSG00000178538 95 0 0 45 13 22.4138 CHD7 0 genome.wustl.edu 37 8 61778057 61778057 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 61778057 61778057 G A SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known silent c.8559 p.E2853 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 76 0 0 23 11 32.3529 YTHDF3 0 genome.wustl.edu 37 8 64099642 64099642 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 64099642 64099642 G A SNP YTHDF3 ENST00000539294 human ensembl 74_37 +1 known missense c.1070 p.R357H 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF3 HGNC ENSG00000185728 57 0 0 47 4 7.84314 YTHDF3 0 genome.wustl.edu 37 8 64099819 64099819 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 64099819 64099819 G A SNP YTHDF3 ENST00000539294 human ensembl 74_37 +1 known missense c.1247 p.R416H 1.000 pfscan_YTH_domain pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF3 HGNC ENSG00000185728 55 0 0 73 6 7.59494 TRIM55 0 genome.wustl.edu 37 8 67040642 67040642 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 67040642 67040642 G A SNP TRIM55 ENST00000315962 human ensembl 74_37 +1 known missense c.272 p.G91E 1.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM55 HGNC ENSG00000147573 222 0 0 209 31 12.9167 VCPIP1 0 genome.wustl.edu 37 8 67546767 67546767 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 67546767 67546767 G T SNP VCPIP1 ENST00000310421 human ensembl 74_37 -1 known missense c.3638 p.T1213N 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 171 0 0 202 28 12.1739 MCMDC2 0 genome.wustl.edu 37 8 67809147 67809147 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 67809147 67809147 C T SNP MCMDC2 ENST00000422365 human ensembl 74_37 +1 known silent c.1579 p.L527 0.000 superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase - no_errors MCMDC2 HGNC ENSG00000178460 162 0 0 184 34 15.5963 CSPP1 0 genome.wustl.edu 37 8 68028332 68028332 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 68028332 68028332 G A SNP CSPP1 ENST00000262210 human ensembl 74_37 +1 known missense c.1456 p.A486T 0.998 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 158 0 0 172 27 13.5678 PREX2 0 genome.wustl.edu 37 8 68965434 68965434 + Missense_Mutation SNP A A T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 68965434 68965434 A T SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.1046 p.K349M 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 123 0 0 161 11 6.39535 SULF1 0 genome.wustl.edu 37 8 70533326 70533326 + Silent SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 70533326 70533326 A C SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known silent c.1434 p.G478 0.024 superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 118 0 0 62 56 47.4576 TRPA1 0 genome.wustl.edu 37 8 72969193 72969193 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 72969193 72969193 G T SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.1153 p.Q385K 1.000 pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 40 0 0 37 5 11.9048 JPH1 0 genome.wustl.edu 37 8 75227608 75227608 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 75227608 75227608 G A SNP JPH1 ENST00000342232 human ensembl 74_37 -1 known silent c.627 p.G209 0.994 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH1 HGNC ENSG00000104369 173 0 0 174 30 14.7059 JPH1 0 genome.wustl.edu 37 8 75227780 75227780 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 75227780 75227780 G A SNP JPH1 ENST00000342232 human ensembl 74_37 -1 known missense c.455 p.A152V 1.000 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH1 HGNC ENSG00000104369 34 0 0 59 10 14.4928 CHMP4C 0 genome.wustl.edu 37 8 82644967 82644967 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 82644967 82644967 C T SNP CHMP4C ENST00000297265 human ensembl 74_37 +1 known silent c.106 p.L36 0.999 pfam_Snf7 pfam_Snf7 - no_errors CHMP4C HGNC ENSG00000164695 17 0 0 29 9 23.6842 MMP16 0 genome.wustl.edu 37 8 89053979 89053979 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 89053979 89053979 T G SNP MMP16 ENST00000286614 human ensembl 74_37 -1 known missense c.1534 p.N512H 1.000 pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP16 HGNC ENSG00000156103 59 0 0 18 71 79.7753 OSGIN2 0 genome.wustl.edu 37 8 90937611 90937611 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 90937611 90937611 G T SNP OSGIN2 ENST00000451899 human ensembl 74_37 +1 known missense c.1501 p.A501S 1.000 NULL NULL - no_errors OSGIN2 HGNC ENSG00000164823 213 1 0.46729 196 22 10.0917 RUNX1T1 0 genome.wustl.edu 37 8 93004021 93004021 + Silent SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 93004021 93004021 A G SNP RUNX1T1 ENST00000436581 human ensembl 74_37 -1 known silent c.870 p.N290 1.000 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 95 0 0 85 17 16.6667 RBM12B 0 genome.wustl.edu 37 8 94745991 94745991 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 94745991 94745991 C T SNP RBM12B ENST00000399300 human ensembl 74_37 -1 known missense c.2648 p.R883H 0.798 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12B HGNC ENSG00000183808 311 0 0 239 49 17.0139 GDF6 0 genome.wustl.edu 37 8 97157302 97157302 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 97157302 97157302 C T SNP GDF6 ENST00000287020 human ensembl 74_37 -1 known missense c.857 p.R286H 1.000 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF6 HGNC ENSG00000156466 14 0 0 15 3 16.6667 KCNS2 0 genome.wustl.edu 37 8 99440303 99440303 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 99440303 99440303 G A SNP KCNS2 ENST00000287042 human ensembl 74_37 +1 known silent c.96 p.S32 0.786 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9 pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS2 HGNC ENSG00000156486 67 0 0 38 12 24 CCDC180 0 genome.wustl.edu 37 9 100085148 100085148 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 100085148 100085148 G A SNP CCDC180 ENST00000375202 human ensembl 74_37 +1 known missense c.1325 p.R442H 0.808 NULL NULL - no_errors CCDC180 HGNC ENSG00000197816 81 0 0 77 13 14.4444 CCDC180 0 genome.wustl.edu 37 9 100128909 100128909 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 100128909 100128909 C T SNP CCDC180 ENST00000375202 human ensembl 74_37 +1 known silent c.4248 p.C1416 0.164 NULL NULL - no_errors CCDC180 HGNC ENSG00000197816 72 0 0 55 9 14.0625 CCDC180 0 genome.wustl.edu 37 9 100137832 100137832 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 100137832 100137832 C T SNP CCDC180 ENST00000375202 human ensembl 74_37 +1 known silent c.4935 p.G1645 1.000 NULL NULL - no_errors CCDC180 HGNC ENSG00000197816 115 0 0 77 19 19.7917 COL15A1 0 genome.wustl.edu 37 9 101822204 101822204 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 101822204 101822204 G A SNP COL15A1 ENST00000375001 human ensembl 74_37 +1 known missense c.3371 p.G1124E 1.000 NULL pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 138 0 0 72 22 23.4043 NR4A3 0 genome.wustl.edu 37 9 102591219 102591219 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 102591219 102591219 G A SNP NR4A3 ENST00000330847 human ensembl 74_37 +1 known missense c.928 p.A310T 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt 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_NOR1_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A3 HGNC ENSG00000119508 21 0 0 15 9 37.5 GRIN3A 0 genome.wustl.edu 37 9 104499750 104499750 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 104499750 104499750 G A SNP GRIN3A ENST00000361820 human ensembl 74_37 -1 known missense c.512 p.S171L 0.993 superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 81 0 0 64 17 20.9877 ABCA1 0 genome.wustl.edu 37 9 107571802 107571802 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 107571802 107571802 C T SNP ABCA1 ENST00000374736 human ensembl 74_37 -1 known missense c.4219 p.A1407T 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 95 0 0 66 16 19.5122 FKTN 0 genome.wustl.edu 37 9 108370183 108370183 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 108370183 108370183 A C SNP FKTN ENST00000223528 human ensembl 74_37 +1 known missense c.731 p.H244P 1.000 superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom pfam_LicD,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom - no_errors FKTN HGNC ENSG00000106692 112 1 0.884956 60 24 28.5714 ACTL7B 0 genome.wustl.edu 37 9 111617575 111617575 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 111617575 111617575 G A SNP ACTL7B ENST00000374667 human ensembl 74_37 -1 known silent c.636 p.G212 0.996 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7B HGNC ENSG00000148156 77 0 0 46 12 20.6897 PTPN3 0 genome.wustl.edu 37 9 112172545 112172545 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 112172545 112172545 G A SNP PTPN3 ENST00000374541 human ensembl 74_37 -1 known silent c.1464 p.G488 0.992 pirsf_Tyr_Pase_non-rcpt_typ-3/4 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN3 HGNC ENSG00000070159 197 0 0 121 91 42.9245 PTPN3 0 genome.wustl.edu 37 9 112219457 112219457 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 112219457 112219457 T C SNP PTPN3 ENST00000262539 human ensembl 74_37 -1 known missense c.37 p.K13E 0.847 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN3 HGNC ENSG00000070159 79 0 0 43 27 38.5714 HSDL2 0 genome.wustl.edu 37 9 115203985 115203985 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 115203985 115203985 C A SNP HSDL2 ENST00000262542 human ensembl 74_37 +1 known missense c.440 p.P147H 1.000 NULL pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom - no_errors HSDL2 HGNC ENSG00000119471 59 0 0 64 16 20 KIAA1958 0 genome.wustl.edu 37 9 115337496 115337496 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 115337496 115337496 C T SNP KIAA1958 ENST00000536272 human ensembl 74_37 +1 known missense c.1136 p.A379V 0.697 NULL pfam_DUF3504,superfamily_Integrase_Lambda-type_N - no_errors KIAA1958 HGNC ENSG00000165185 103 0 0 62 33 34.7368 COL27A1 0 genome.wustl.edu 37 9 116930329 116930329 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 116930329 116930329 G A SNP COL27A1 ENST00000356083 human ensembl 74_37 +1 known missense c.494 p.G165D 0.996 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 57 0 0 52 14 21.2121 DFNB31 0 genome.wustl.edu 37 9 117165145 117165145 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 117165145 117165145 C T SNP DFNB31 ENST00000362057 human ensembl 74_37 -1 known silent c.2613 p.T871 0.858 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC ENSG00000095397 43 0 0 43 8 15.6863 TNC 0 genome.wustl.edu 37 9 117849041 117849041 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 117849041 117849041 G A SNP TNC ENST00000350763 human ensembl 74_37 -1 known silent c.969 p.G323 0.995 pfam_EGF_extracell,smart_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 143 0 0 106 29 21.4815 C5 0 genome.wustl.edu 37 9 123722601 123722601 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 123722601 123722601 T C SNP C5 ENST00000223642 human ensembl 74_37 -1 known missense c.4603 p.M1535V 1.000 superfamily_TIMP-like_OB-fold,pfscan_Netrin_domain pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom - no_errors C5 HGNC ENSG00000106804 61 0 0 50 15 23.0769 DAB2IP 0 genome.wustl.edu 37 9 124535252 124535252 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 124535252 124535252 C T SNP DAB2IP ENST00000408936 human ensembl 74_37 +1 known silent c.2445 p.G815 0.987 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 97 0 0 49 24 32.8767 CRB2 0 genome.wustl.edu 37 9 126128524 126128524 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 126128524 126128524 G A SNP CRB2 ENST00000373631 human ensembl 74_37 +1 known silent c.633 p.A211 0.047 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB2 HGNC ENSG00000148204 10 0 0 1 4 80 ANGPTL2 0 genome.wustl.edu 37 9 129870996 129870996 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 129870996 129870996 G A SNP ANGPTL2 ENST00000373425 human ensembl 74_37 -1 known silent c.15 p.C5 0.004 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL2 HGNC ENSG00000136859 78 0 0 37 27 42.1875 AK1 0 genome.wustl.edu 37 9 130630298 130630298 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 130630298 130630298 C T SNP AK1 ENST00000373176 human ensembl 74_37 -1 known missense c.574 p.A192T 0.209 superfamily_P-loop_NTPase,tigrfam_Adenylate_kin1 pfam_Adenylate_kin,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,prints_Adenylate_kin,tigrfam_Adenylate_kin1 - no_errors AK1 HGNC ENSG00000106992 118 0 0 96 18 15.7895 DNM1 0 genome.wustl.edu 37 9 130982549 130982549 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 130982549 130982549 C A SNP DNM1 ENST00000372923 human ensembl 74_37 +1 known missense c.778 p.L260I 1.000 pfam_Dynamin_central,superfamily_P-loop_NTPase pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM1 HGNC ENSG00000106976 185 0 0 131 38 22.4852 NUP188 0 genome.wustl.edu 37 9 131750408 131750408 + Missense_Mutation SNP C C G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 131750408 131750408 C G SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known missense c.2476 p.R826G 1.000 pfam_Nucleoporin_Nup188 pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 259 0 0 189 60 24.0964 NUP188 0 genome.wustl.edu 37 9 131760467 131760467 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 131760467 131760467 G A SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known missense c.3389 p.R1130H 1.000 NULL pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 378 1 0.263852 269 72 21.1144 NUP188 0 genome.wustl.edu 37 9 131768572 131768572 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 131768572 131768572 G A SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known silent c.4998 p.A1666 0.013 NULL pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 290 0 0 225 57 20.2128 LAMC3 0 genome.wustl.edu 37 9 133901769 133901769 + Nonsense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 133901769 133901769 G A SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known nonsense c.471 p.W157* 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 115 0 0 104 26 20 NUP214 0 genome.wustl.edu 37 9 134026004 134026004 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 134026004 134026004 T G SNP NUP214 ENST00000451030 human ensembl 74_37 +1 known missense c.2132 p.I711S 1.000 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 166 0 0 133 8 5.67376 C9orf96 0 genome.wustl.edu 37 9 136270471 136270471 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 136270471 136270471 G A SNP C9orf96 ENST00000371957 human ensembl 74_37 +1 known missense c.1969 p.A657T 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors C9orf96 HGNC ENSG00000198870 48 0 0 32 12 27.2727 VAV2 0 genome.wustl.edu 37 9 136804319 136804319 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 136804319 136804319 C T SNP VAV2 ENST00000371850 human ensembl 74_37 -1 known missense c.227 p.R76H 1.000 pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain - no_errors VAV2 HGNC ENSG00000160293 170 0 0 118 26 18.0556 COL5A1 0 genome.wustl.edu 37 9 137688237 137688237 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 137688237 137688237 C T SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known silent c.2817 p.D939 0.998 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 145 0 0 99 15 13.1579 C9orf69 0 genome.wustl.edu 37 9 139008606 139008606 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 139008606 139008606 C T SNP C9orf69 ENST00000561457 human ensembl 74_37 -1 known missense c.215 p.R72H 0.671 NULL NULL - no_errors C9orf69 HGNC ENSG00000238227 101 0 0 69 16 18.8235 INPP5E 0 genome.wustl.edu 37 9 139327500 139327500 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 139327500 139327500 C T SNP INPP5E ENST00000371712 human ensembl 74_37 -1 known missense c.1187 p.R396H 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5E HGNC ENSG00000148384 95 0 0 67 14 17.284 TRAF2 0 genome.wustl.edu 37 9 139794987 139794987 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 139794987 139794987 G A SNP TRAF2 ENST00000359662 human ensembl 74_37 +1 known silent c.381 p.A127 0.000 pirsf_TNF_rcpt--assoc_TRAF pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF2 HGNC ENSG00000127191 43 0 0 34 4 10.5263 EXD3 0 genome.wustl.edu 37 9 140218289 140218289 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 140218289 140218289 G A SNP EXD3 ENST00000340951 human ensembl 74_37 -1 known missense c.2072 p.A691V 1.000 pfam_Mut7-C_RNAse_dom pfam_Mut7-C_RNAse_dom,pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD3 HGNC ENSG00000187609 28 0 0 30 8 21.0526 PNPLA7 0 genome.wustl.edu 37 9 140357336 140357336 + RNA SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 140357336 140357336 G A SNP PNPLA7 ENST00000492278 human ensembl 74_37 -1 known rna NULL NULL 0.064 - - - no_errors PNPLA7 HGNC ENSG00000130653 73 0 0 57 8 12.3077 EHMT1 0 genome.wustl.edu 37 9 140611397 140611397 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 140611397 140611397 G A SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known silent c.405 p.Q135 0.935 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 156 0 0 106 36 25.3521 CCDC171 0 genome.wustl.edu 37 9 15623310 15623310 + Missense_Mutation SNP T T A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 15623310 15623310 T A SNP CCDC171 ENST00000380701 human ensembl 74_37 +1 known missense c.721 p.L241I 1.000 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 146 0 0 75 7 8.53659 ADAMTSL1 0 genome.wustl.edu 37 9 18504938 18504938 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 18504938 18504938 C T SNP ADAMTSL1 ENST00000327883 human ensembl 74_37 +1 known missense c.175 p.R59C 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL1 HGNC ENSG00000178031 47 0 0 32 3 8.57143 ELAVL2 0 genome.wustl.edu 37 9 23762152 23762152 + Silent SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 23762152 23762152 T G SNP ELAVL2 ENST00000380117 human ensembl 74_37 -1 known silent c.81 p.S27 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL2 HGNC ENSG00000107105 289 0 0 111 58 34.3195 VLDLR 0 genome.wustl.edu 37 9 2652951 2652951 + Splice_Site SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 2652951 2652951 T C SNP VLDLR ENST00000382100 human ensembl 74_37 +1 known splice_site c.2586+2 e18+2 1.000 - - - no_errors VLDLR HGNC ENSG00000147852 125 0 0 36 23 38.9831 C9orf72 0 genome.wustl.edu 37 9 27566799 27566799 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 27566799 27566799 C T SNP C9orf72 ENST00000380003 human ensembl 74_37 -1 known missense c.320 p.R107H 1.000 NULL NULL - no_errors C9orf72 HGNC ENSG00000147894 73 0 0 32 3 8.57143 LINGO2 0 genome.wustl.edu 37 9 27950147 27950147 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 27950147 27950147 C T SNP LINGO2 ENST00000308675 human ensembl 74_37 -1 known missense c.523 p.G175R 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO2 HGNC ENSG00000174482 67 0 0 30 13 30.2326 DDX58 0 genome.wustl.edu 37 9 32488855 32488855 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 32488855 32488855 A C SNP DDX58 ENST00000379883 human ensembl 74_37 -1 known missense c.830 p.I277R 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX58 HGNC ENSG00000107201 52 0 0 6 8 57.1429 C9orf24 0 genome.wustl.edu 37 9 34379098 34379098 + Silent SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 34379098 34379098 G T SNP C9orf24 ENST00000379124 human ensembl 74_37 -1 known silent c.471 p.T157 0.195 NULL NULL - no_errors C9orf24 HGNC ENSG00000164972 87 0 0 24 18 42.8571 KDM4C 0 genome.wustl.edu 37 9 6805761 6805761 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 6805761 6805761 G T SNP KDM4C ENST00000381309 human ensembl 74_37 +1 known missense c.307 p.A103S 1.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 116 0 0 10 15 60 NTRK2 0 genome.wustl.edu 37 9 87285857 87285857 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 87285857 87285857 C A SNP NTRK2 ENST00000277120 human ensembl 74_37 +1 known missense c.194 p.P65H 0.039 smart_LRR-contain_N pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC ENSG00000148053 62 0 0 21 7 25 GAS1 0 genome.wustl.edu 37 9 89560864 89560864 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 89560864 89560864 G A SNP GAS1 ENST00000298743 human ensembl 74_37 -1 known silent c.831 p.G277 0.000 NULL pfam_GDNF/GAS1,smart_GDNF/GAS1 - no_errors GAS1 HGNC ENSG00000180447 17 0 0 4 6 60 DAPK1 0 genome.wustl.edu 37 9 90322206 90322206 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 90322206 90322206 G A SNP DAPK1 ENST00000469640 human ensembl 74_37 +1 known missense c.4295 p.G1432D 1.000 NULL pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 41 0 0 19 3 13.6364 SEMA4D 0 genome.wustl.edu 37 9 92011708 92011708 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 92011708 92011708 C T SNP SEMA4D ENST00000356444 human ensembl 74_37 -1 known missense c.358 p.A120T 0.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4D HGNC ENSG00000187764 46 0 0 29 10 25.641 SPTLC1 0 genome.wustl.edu 37 9 94800620 94800620 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 94800620 94800620 C A SNP SPTLC1 ENST00000262554 human ensembl 74_37 -1 known missense c.1164 p.E388D 0.903 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors SPTLC1 HGNC ENSG00000090054 139 0 0 93 12 11.4286 ECM2 0 genome.wustl.edu 37 9 95277103 95277103 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 95277103 95277103 G A SNP ECM2 ENST00000344604 human ensembl 74_37 -1 known silent c.864 p.D288 0.001 NULL pfam_Leu-rich_rpt,pfam_VWF_C,smart_VWF_C,smart_Leu-rich_rpt_typical-subtyp,pfscan_VWF_C - no_errors ECM2 HGNC ENSG00000106823 100 0 0 73 17 18.8889 FGD3 0 genome.wustl.edu 37 9 95768399 95768399 + Silent SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 95768399 95768399 A G SNP FGD3 ENST00000337352 human ensembl 74_37 +1 known silent c.774 p.V258 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD3 HGNC ENSG00000127084 137 0 0 99 32 24.4275 PTPDC1 0 genome.wustl.edu 37 9 96846962 96846962 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 96846962 96846962 G A SNP PTPDC1 ENST00000288976 human ensembl 74_37 +1 putative silent c.150 p.K50 0.005 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors PTPDC1 HGNC ENSG00000158079 113 0 0 103 35 25.3623 ZNF169 0 genome.wustl.edu 37 9 97062645 97062645 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 97062645 97062645 C T SNP ZNF169 ENST00000395395 human ensembl 74_37 +1 known missense c.805 p.R269C 0.705 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 ZNF169 HGNC ENSG00000175787 138 0 0 98 21 17.6471 ZNF169 0 genome.wustl.edu 37 9 97063480 97063480 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 97063480 97063480 G A SNP ZNF169 ENST00000395395 human ensembl 74_37 +1 known missense c.1640 p.C547Y 0.999 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 ZNF169 HGNC ENSG00000175787 121 0 0 88 22 20 NUTM2F 0 genome.wustl.edu 37 9 97084510 97084510 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 97084510 97084510 C T SNP NUTM2F ENST00000253262 human ensembl 74_37 -1 known missense c.815 p.R272Q 0.054 NULL NULL - no_errors NUTM2F HGNC ENSG00000130950 190 0 0 22 110 83.3333 ERCC6L2 0 genome.wustl.edu 37 9 98728971 98728971 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 98728971 98728971 C T SNP ERCC6L2 ENST00000437817 human ensembl 74_37 +1 known missense c.1541 p.S514F 1.000 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L2 HGNC ENSG00000182150 82 0 0 63 24 27.5862 SLC35D2 0 genome.wustl.edu 37 9 99107622 99107622 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 99107622 99107622 C T SNP SLC35D2 ENST00000253270 human ensembl 74_37 -1 known missense c.550 p.A184T 1.000 pfam_Tpt_PEP_trans_dom,pfam_UAA pfam_Tpt_PEP_trans_dom,pfam_UAA - no_errors SLC35D2 HGNC ENSG00000130958 101 0 0 80 9 10.1124 HNRNPH2 0 genome.wustl.edu 37 X 100667424 100667424 + Nonsense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 100667424 100667424 C T SNP HNRNPH2 ENST00000316594 human ensembl 74_37 +1 known nonsense c.448 p.R150* 0.998 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPH2 HGNC ENSG00000126945 93 0 0 47 33 41.25 ARMCX3 0 genome.wustl.edu 37 X 100880572 100880572 + Missense_Mutation SNP A A T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 100880572 100880572 A T SNP ARMCX3 ENST00000341189 human ensembl 74_37 +1 known missense c.603 p.K201N 1.000 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX3 HGNC ENSG00000102401 60 0 0 33 18 35.2941 ARMCX2 0 genome.wustl.edu 37 X 100911645 100911645 + Silent SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 100911645 100911645 G T SNP ARMCX2 ENST00000328766 human ensembl 74_37 -1 known silent c.930 p.G310 0.998 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMCX2 HGNC ENSG00000184867 140 1 0.70922 63 27 30 ARMCX2 0 genome.wustl.edu 37 X 100912155 100912155 + Silent SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 100912155 100912155 T C SNP ARMCX2 ENST00000328766 human ensembl 74_37 -1 known silent c.420 p.A140 0.062 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMCX2 HGNC ENSG00000184867 56 0 0 47 39 45.3488 MID1 0 genome.wustl.edu 37 X 10535364 10535364 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 10535364 10535364 C T SNP MID1 ENST00000317552 human ensembl 74_37 -1 known missense c.224 p.R75H 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID1 HGNC ENSG00000101871 111 0 0 43 6 12.2449 PRPS1 0 genome.wustl.edu 37 X 106890852 106890852 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 106890852 106890852 G A SNP PRPS1 ENST00000372435 human ensembl 74_37 +1 known missense c.721 p.A241T 1.000 pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase - no_errors PRPS1 HGNC ENSG00000147224 109 0 0 66 39 37.1429 TSC22D3 0 genome.wustl.edu 37 X 106959928 106959928 + Silent SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 106959928 106959928 C T SNP TSC22D3 ENST00000372397 human ensembl 74_37 -1 known silent c.114 p.L38 1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D3 HGNC ENSG00000157514 52 0 0 13 23 63.8889 TEX13B 0 genome.wustl.edu 37 X 107225281 107225281 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 107225281 107225281 G A SNP TEX13B ENST00000302917 human ensembl 74_37 -1 known missense c.77 p.A26V 0.000 NULL NULL - no_errors TEX13B HGNC ENSG00000170925 93 0 0 39 35 47.2973 COL4A5 0 genome.wustl.edu 37 X 107909801 107909801 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 107909801 107909801 C A SNP COL4A5 ENST00000328300 human ensembl 74_37 +1 known missense c.3530 p.P1177Q 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 19 0 0 10 6 37.5 GUCY2F 0 genome.wustl.edu 37 X 108718609 108718609 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 108718609 108718609 G T SNP GUCY2F ENST00000218006 human ensembl 74_37 -1 known missense c.557 p.A186D 0.999 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC ENSG00000101890 106 0 0 61 35 36.4583 UBE2A 0 genome.wustl.edu 37 X 118717107 118717107 + Silent SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 118717107 118717107 C A SNP UBE2A ENST00000371558 human ensembl 74_37 +1 known silent c.348 p.P116 0.722 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2A HGNC ENSG00000077721 75 0 0 44 23 34.3284 THOC2 0 genome.wustl.edu 37 X 122755101 122755101 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 122755101 122755101 A G SNP THOC2 ENST00000245838 human ensembl 74_37 -1 known missense c.4123 p.S1375P 0.998 NULL pfam_THO_THOC2_C,pfam_THO_THOC2_N - no_errors THOC2 HGNC ENSG00000125676 78 0 0 36 26 41.9355 DCAF12L2 0 genome.wustl.edu 37 X 125299270 125299270 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 125299270 125299270 C T SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.638 p.R213H 0.946 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 DCAF12L2 HGNC ENSG00000198354 70 0 0 47 21 30.8824 DCAF12L1 0 genome.wustl.edu 37 X 125686047 125686047 + Missense_Mutation SNP A A T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 125686047 125686047 A T SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known missense c.545 p.L182Q 0.998 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 41 0 0 28 20 41.6667 OCRL 0 genome.wustl.edu 37 X 128710001 128710001 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 128710001 128710001 G T SNP OCRL ENST00000371113 human ensembl 74_37 +1 known missense c.1841 p.W614L 1.000 NULL pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors OCRL HGNC ENSG00000122126 129 0 0 81 43 34.6774 OR13H1 0 genome.wustl.edu 37 X 130678804 130678804 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 130678804 130678804 T C SNP OR13H1 ENST00000338616 human ensembl 74_37 +1 known missense c.757 p.S253P 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13H1 HGNC ENSG00000171054 123 0 0 64 54 45.7627 UBE2NL 0 genome.wustl.edu 37 X 142967464 142967464 + Missense_Mutation SNP A A T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 142967464 142967464 A T SNP UBE2NL ENST00000370494 human ensembl 74_37 +1 known missense c.262 p.S88C 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2NL HGNC ENSG00000102069 79 0 0 68 8 10.5263 UBE2NL 0 genome.wustl.edu 37 X 142967499 142967499 + Silent SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 142967499 142967499 C A SNP UBE2NL ENST00000370494 human ensembl 74_37 +1 known silent c.297 p.A99 0.992 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2NL HGNC ENSG00000102069 85 0 0 102 13 11.3043 UBE2NL 0 genome.wustl.edu 37 X 142967543 142967543 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 142967543 142967543 A G SNP UBE2NL ENST00000370494 human ensembl 74_37 +1 known missense c.341 p.N114S 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2NL HGNC ENSG00000102069 109 0 0 119 7 5.55556 UBE2NL 0 genome.wustl.edu 37 X 142967582 142967582 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 142967582 142967582 T C SNP UBE2NL ENST00000370494 human ensembl 74_37 +1 known missense c.380 p.V127A 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2NL HGNC ENSG00000102069 122 0 0 119 19 13.7681 UBE2NL 0 genome.wustl.edu 37 X 142967616 142967616 + Silent SNP T T A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 142967616 142967616 T A SNP UBE2NL ENST00000370494 human ensembl 74_37 +1 known silent c.414 p.I138 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2NL HGNC ENSG00000102069 121 0 0 126 24 16 UBE2NL 0 genome.wustl.edu 37 X 142967657 142967657 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 142967657 142967657 G A SNP UBE2NL ENST00000370494 human ensembl 74_37 +1 known missense c.455 p.S152N 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2NL HGNC ENSG00000102069 83 0 0 79 7 8.13953 MTMR1 0 genome.wustl.edu 37 X 149901161 149901161 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 149901161 149901161 A G SNP MTMR1 ENST00000445323 human ensembl 74_37 +1 known missense c.1039 p.I347V 0.999 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR1 HGNC ENSG00000063601 43 0 0 56 4 6.66667 ABCD1 0 genome.wustl.edu 37 X 153008476 153008476 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 153008476 153008476 T C SNP ABCD1 ENST00000218104 human ensembl 74_37 +1 known missense c.1816 p.S606P 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_FA_transporter pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_FA_transporter - no_errors ABCD1 HGNC ENSG00000101986 11 0 0 9 5 35.7143 L1CAM 0 genome.wustl.edu 37 X 153129001 153129001 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 153129001 153129001 T G SNP L1CAM ENST00000543994 human ensembl 74_37 -1 known missense c.3467 p.K1156T 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors L1CAM HGNC ENSG00000198910 23 0 0 16 5 23.8095 HCFC1 0 genome.wustl.edu 37 X 153223661 153223661 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 153223661 153223661 C T SNP HCFC1 ENST00000310441 human ensembl 74_37 -1 known missense c.1843 p.A615T 1.000 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 69 0 0 21 15 41.6667 CLIC2 0 genome.wustl.edu 37 X 154563727 154563727 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 154563727 154563727 G T SNP CLIC2 ENST00000369449 human ensembl 74_37 -1 known missense c.10 p.L4M 0.137 NULL superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC2 HGNC ENSG00000155962 105 0 0 62 25 28.7356 RAI2 0 genome.wustl.edu 37 X 17818711 17818711 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 17818711 17818711 C T SNP RAI2 ENST00000331511 human ensembl 74_37 -1 known missense c.1420 p.V474M 1.000 NULL NULL - no_errors RAI2 HGNC ENSG00000131831 283 0 0 148 85 36.4807 PHKA2 0 genome.wustl.edu 37 X 18958163 18958163 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 18958163 18958163 G A SNP PHKA2 ENST00000379942 human ensembl 74_37 -1 known missense c.868 p.R290C 0.994 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 100 0 0 69 51 42.5 SMS 0 genome.wustl.edu 37 X 21985370 21985370 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 21985370 21985370 G A SNP SMS ENST00000404933 human ensembl 74_37 +1 known missense c.106 p.A36T 1.000 NULL pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase - no_errors SMS HGNC ENSG00000102172 56 0 0 33 20 37.7358 DMD 0 genome.wustl.edu 37 X 32662332 32662332 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 32662332 32662332 T G SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.1248 p.E416D 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 69 0 0 45 17 27.4194 CYBB 0 genome.wustl.edu 37 X 37665662 37665662 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 37665662 37665662 G A SNP CYBB ENST00000378588 human ensembl 74_37 +1 known missense c.1337 p.R446Q 1.000 pfam_Fe_red_NAD-bd_6 pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors CYBB HGNC ENSG00000165168 83 0 0 65 13 16.6667 RPGR 0 genome.wustl.edu 37 X 38160591 38160591 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 38160591 38160591 C T SNP RPGR ENST00000378505 human ensembl 74_37 -1 known missense c.968 p.R323H 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 38 0 0 33 4 10.8108 DDX3X 0 genome.wustl.edu 37 X 41201758 41201758 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 41201758 41201758 C T SNP DDX3X ENST00000399959 human ensembl 74_37 +1 known missense c.295 p.R99C 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3X HGNC ENSG00000215301 60 0 0 31 15 32.6087 NYX 0 genome.wustl.edu 37 X 41333566 41333566 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 41333566 41333566 G A SNP NYX ENST00000342595 human ensembl 74_37 +1 known missense c.860 p.R287H 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors NYX HGNC ENSG00000188937 40 0 0 36 23 38.9831 GPR82 0 genome.wustl.edu 37 X 41586781 41586781 + Missense_Mutation SNP A A G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 41586781 41586781 A G SNP GPR82 ENST00000302548 human ensembl 74_37 +1 known missense c.502 p.I168V 0.010 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR82 HGNC ENSG00000171657 72 0 0 61 4 6.15385 DUSP21 0 genome.wustl.edu 37 X 44703615 44703615 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 44703615 44703615 G A SNP DUSP21 ENST00000339042 human ensembl 74_37 +1 known silent c.237 p.S79 0.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famB,prints_Atypical_DUSP - no_errors DUSP21 HGNC ENSG00000189037 93 0 0 88 7 7.36842 ELK1 0 genome.wustl.edu 37 X 47497297 47497297 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 47497297 47497297 G A SNP ELK1 ENST00000247161 human ensembl 74_37 -1 known silent c.939 p.G313 0.996 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELK1 HGNC ENSG00000126767 12 0 0 7 8 53.3333 ZNF81 0 genome.wustl.edu 37 X 47775652 47775652 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 47775652 47775652 C T SNP ZNF81 ENST00000338637 human ensembl 74_37 +1 known missense c.1607 p.T536I 0.523 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 ZNF81 HGNC ENSG00000197779 63 0 0 37 29 43.9394 TIMM17B 0 genome.wustl.edu 37 X 48751229 48751229 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 48751229 48751229 G A SNP TIMM17B ENST00000396779 human ensembl 74_37 -1 known silent c.534 p.G178 0.989 pfam_Tim17/Tim22/Tim23/PMP24 pfam_Tim17/Tim22/Tim23/PMP24 - no_errors TIMM17B HGNC ENSG00000126768 24 0 0 11 3 21.4286 PRICKLE3 0 genome.wustl.edu 37 X 49032321 49032321 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 49032321 49032321 T C SNP PRICKLE3 ENST00000376317 human ensembl 74_37 -1 known missense c.1549 p.N517D 0.002 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE3 HGNC ENSG00000012211 72 0 0 38 7 15.5556 PPP1R3F 0 genome.wustl.edu 37 X 49127023 49127023 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 49127023 49127023 G A SNP PPP1R3F ENST00000055335 human ensembl 74_37 +1 known missense c.691 p.A231T 0.938 pfam_CBM_21,pfscan_CBM_21 pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3F HGNC ENSG00000049769 23 0 0 6 11 64.7059 IQSEC2 0 genome.wustl.edu 37 X 53265541 53265541 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 53265541 53265541 G A SNP IQSEC2 ENST00000396435 human ensembl 74_37 -1 known silent c.3414 p.G1138 0.491 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_P-loop_NTPase,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC2 HGNC ENSG00000124313 12 0 0 16 4 20 FGD1 0 genome.wustl.edu 37 X 54496700 54496700 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 54496700 54496700 C T SNP FGD1 ENST00000375135 human ensembl 74_37 -1 known missense c.850 p.G284S 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD1 HGNC ENSG00000102302 17 0 0 5 5 50 ITIH6 0 genome.wustl.edu 37 X 54780160 54780160 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 54780160 54780160 G A SNP ITIH6 ENST00000218436 human ensembl 74_37 -1 known silent c.3276 p.H1092 0.117 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC ENSG00000102313 52 0 0 27 9 25 TRO 0 genome.wustl.edu 37 X 54949190 54949190 + Silent SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 54949190 54949190 T G SNP TRO ENST00000173898 human ensembl 74_37 +1 known silent c.225 p.P75 0.019 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 12 0 0 8 6 42.8571 TRO 0 genome.wustl.edu 37 X 54953052 54953052 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 54953052 54953052 G A SNP TRO ENST00000173898 human ensembl 74_37 +1 known missense c.1694 p.R565H 0.069 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 124 0 0 67 59 46.8254 NLGN4X 0 genome.wustl.edu 37 X 5810908 5810908 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 5810908 5810908 C T SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known missense c.2461 p.G821R 0.977 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 71 0 0 8 20 71.4286 AMER1 0 genome.wustl.edu 37 X 63412262 63412262 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 63412262 63412262 T C SNP AMER1 ENST00000330258 human ensembl 74_37 -1 known missense c.905 p.N302S 0.000 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors AMER1 HGNC ENSG00000184675 147 0 0 103 8 7.20721 MSN 0 genome.wustl.edu 37 X 64955210 64955210 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 64955210 64955210 C T SNP MSN ENST00000360270 human ensembl 74_37 +1 known missense c.877 p.R293C 1.000 pirsf_ERM,pfam_FERM_PH-like_C,prints_Ez/rad/moesin_like,pfscan_FERM_domain pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors MSN HGNC ENSG00000147065 15 0 0 8 7 46.6667 AR 0 genome.wustl.edu 37 X 66765826 66765826 + Missense_Mutation SNP C C T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 66765826 66765826 C T SNP AR ENST00000374690 human ensembl 74_37 +1 known missense c.838 p.R280C 0.977 pfam_Andrgn_rcpt,prints_Andrgn_rcpt pfam_Andrgn_rcpt,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_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 57 0 0 38 36 48.6486 HDHD1 0 genome.wustl.edu 37 X 6995274 6995274 + Missense_Mutation SNP G G T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 6995274 6995274 G T SNP HDHD1 ENST00000424830 human ensembl 74_37 -1 known missense c.566 p.P189H 0.090 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA - no_errors HDHD1 HGNC ENSG00000130021 9 0 0 1 2 66.6667 HDAC8 0 genome.wustl.edu 37 X 71788641 71788641 + Silent SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 71788641 71788641 G A SNP HDAC8 ENST00000373573 human ensembl 74_37 -1 known silent c.258 p.G86 0.022 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC8 HGNC ENSG00000147099 47 0 0 20 12 37.5 MAGEE1 0 genome.wustl.edu 37 X 75649600 75649600 + Missense_Mutation SNP C C A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 75649600 75649600 C A SNP MAGEE1 ENST00000361470 human ensembl 74_37 +1 known missense c.1277 p.P426H 0.006 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 24 0 0 26 7 21.2121 CYLC1 0 genome.wustl.edu 37 X 83128395 83128395 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 83128395 83128395 T G SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known missense c.679 p.S227A 0.000 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 19 0 0 11 3 21.4286 ZNF711 0 genome.wustl.edu 37 X 84510604 84510604 + Missense_Mutation SNP A A C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 84510604 84510604 A C SNP ZNF711 ENST00000395402 human ensembl 74_37 +1 known missense c.353 p.H118P 0.945 pfam_Transcrp_activ_Zfx/Zfy-dom pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ENSG00000147180 80 0 0 40 27 40.2985 DACH2 0 genome.wustl.edu 37 X 85404035 85404035 + Missense_Mutation SNP C C G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 85404035 85404035 C G SNP DACH2 ENST00000373125 human ensembl 74_37 +1 known missense c.411 p.I137M 1.000 pfam_Transform_Ski,superfamily_DNA-bd_dom_put pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 42 0 0 24 22 47.8261 KAL1 0 genome.wustl.edu 37 X 8565134 8565134 + Missense_Mutation SNP T T G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 8565134 8565134 T G SNP KAL1 ENST00000262648 human ensembl 74_37 -1 known missense c.482 p.K161T 1.000 pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,prints_WAP-type_4-diS_core pfam_Fibronectin_type3,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_WAP-type_4-diS_core - no_errors KAL1 HGNC ENSG00000011201 35 0 0 5 17 77.2727 RPA4 0 genome.wustl.edu 37 X 96139929 96139929 + Missense_Mutation SNP G G A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 96139929 96139929 G A SNP RPA4 ENST00000373040 human ensembl 74_37 +1 known missense c.620 p.R207H 0.001 pfam_RPA_C,pirsf_RPA32 pfam_RPA_C,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pirsf_RPA32 - no_errors RPA4 HGNC ENSG00000204086 97 0 0 86 9 9.47368 RPA4 0 genome.wustl.edu 37 X 96140040 96140040 + Missense_Mutation SNP T T C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 96140040 96140040 T C SNP RPA4 ENST00000373040 human ensembl 74_37 +1 known missense c.731 p.V244A 0.000 pfam_RPA_C,pirsf_RPA32 pfam_RPA_C,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pirsf_RPA32 - no_errors RPA4 HGNC ENSG00000204086 77 0 0 47 28 37.3333 CDC14A 0 genome.wustl.edu 37 1 100889837 100889837 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 100889837 100889837 C - DEL CDC14A ENST00000361544 human ensembl 74_37 +1 known frame_shift_del c.369 p.Y126fs 0.021 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14A HGNC ENSG00000079335 154 0 0 77 18 18.9474 COL11A1 0 genome.wustl.edu 37 1 103573668 103573669 + Frame_Shift_Ins INS - - G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 103573668 103573669 - G INS COL11A1 ENST00000358392 human ensembl 74_37 -1 known frame_shift_ins c.67_66 p.A22fs 0.581:0.739 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 79 0 0 48 12 20 KIAA1324 0 genome.wustl.edu 37 1 109735416 109735416 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 109735416 109735416 A - DEL KIAA1324 ENST00000369939 human ensembl 74_37 +1 known frame_shift_del c.1867 p.T623fs 0.025 superfamily_Growth_fac_rcpt_N_dom superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324 HGNC ENSG00000116299 274 0 0 203 21 9.375 TTLL10 0 genome.wustl.edu 37 1 1117760 1117760 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 1117760 1117760 T - DEL TTLL10 ENST00000379289 human ensembl 74_37 +1 known frame_shift_del c.850 p.F285fs 0.994 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL10 HGNC ENSG00000162571 214 0 0 126 38 23.1707 MXRA8 0 genome.wustl.edu 37 1 1290110 1290110 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 1290110 1290110 G - DEL MXRA8 ENST00000445648 human ensembl 74_37 -1 known frame_shift_del c.901 p.R301fs 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors MXRA8 HGNC ENSG00000162576 48 0 0 23 5 17.8571 FLG 0 genome.wustl.edu 37 1 152286812 152286813 + Frame_Shift_Ins INS - - T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 152286812 152286813 - T INS FLG ENST00000368799 human ensembl 74_37 -1 known frame_shift_ins c.550_549 p.E183fs 0.000:0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 89 0 0 46 14 23.3333 KCNN3 0 genome.wustl.edu 37 1 154842106 154842106 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 154842106 154842106 G - DEL KCNN3 ENST00000271915 human ensembl 74_37 -1 novel frame_shift_del c.335 p.P112fs 0.918 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 42 0 0 23 5 17.8571 THBS3 0 genome.wustl.edu 37 1 155172646 155172646 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 155172646 155172646 G - DEL THBS3 ENST00000368378 human ensembl 74_37 -1 known frame_shift_del c.914 p.P305fs 0.150 smart_EG-like_dom pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS3 HGNC ENSG00000169231 148 0 0 87 14 13.8614 OR10Z1 0 genome.wustl.edu 37 1 158577073 158577073 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 158577073 158577073 C - DEL OR10Z1 ENST00000361284 human ensembl 74_37 +1 known frame_shift_del c.845 p.L284fs 0.938 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Z1 HGNC ENSG00000198967 391 0 0 307 61 16.5761 PADI3 0 genome.wustl.edu 37 1 17593227 17593227 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 17593227 17593227 G - DEL PADI3 ENST00000375460 human ensembl 74_37 +1 known frame_shift_del c.422 p.S144fs 1.000 pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI3 HGNC ENSG00000142619 150 0 0 89 26 22.6087 NAV1 0 genome.wustl.edu 37 1 201618272 201618272 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 201618272 201618272 C - DEL NAV1 ENST00000367296 human ensembl 74_37 +1 known frame_shift_del c.476 p.L161fs 1.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 39 0 0 12 13 52 CDK18 0 genome.wustl.edu 37 1 205492639 205492639 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 205492639 205492639 C - DEL CDK18 ENST00000506784 human ensembl 74_37 +1 known frame_shift_del c.159 p.P55fs 0.775 NULL pfam_Prot_kinase_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_dom - no_errors CDK18 HGNC ENSG00000117266 22 0 0 7 4 36.3636 CR1L 0 genome.wustl.edu 37 1 207867814 207867814 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 207867814 207867814 A - DEL CR1L ENST00000508064 human ensembl 74_37 +1 known frame_shift_del c.580 p.K195fs 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1L HGNC ENSG00000197721 302 0 0 107 38 26.2069 CENPF 0 genome.wustl.edu 37 1 214819474 214819474 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 214819474 214819474 A - DEL CENPF ENST00000366955 human ensembl 74_37 +1 known frame_shift_del c.6561 p.T2189fs 0.023 pfam_Centromere_CenpF_leu-rich_rpt pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 170 0 0 43 22 33.8462 CENPF 0 genome.wustl.edu 37 1 214830653 214830653 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 214830653 214830653 A - DEL CENPF ENST00000366955 human ensembl 74_37 +1 known frame_shift_del c.8863 p.S2957fs 1.000 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 82 0 0 27 9 25 TLR5 0 genome.wustl.edu 37 1 223283951 223283951 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 223283951 223283951 C - DEL TLR5 ENST00000342210 human ensembl 74_37 -1 known frame_shift_del c.2423 p.G808fs 0.116 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR5 HGNC ENSG00000187554 76 0 0 41 14 25.4545 CDC42BPA 0 genome.wustl.edu 37 1 227227916 227227917 + Frame_Shift_Ins INS - - A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 227227916 227227917 - A INS CDC42BPA ENST00000334218 human ensembl 74_37 -1 known frame_shift_ins c.3010_3009 p.V1003fs 1.000:0.992 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPA HGNC ENSG00000143776 61 0 0 53 12 18.4615 ABCB10 0 genome.wustl.edu 37 1 229654633 229654633 + RNA DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 229654633 229654633 A - DEL ABCB10 ENST00000498158 human ensembl 74_37 -1 known rna NULL NULL 0.079 - - - no_errors ABCB10 HGNC ENSG00000135776 63 0 0 52 10 16.129 ARV1 0 genome.wustl.edu 37 1 231131567 231131567 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 231131567 231131567 A - DEL ARV1 ENST00000310256 human ensembl 74_37 +1 known frame_shift_del c.510 p.K173fs 0.000 pfam_Arv1 pfam_Arv1 - no_errors ARV1 HGNC ENSG00000173409 89 0 0 62 6 8.82353 RBM34 0 genome.wustl.edu 37 1 235323838 235323838 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 235323838 235323838 T - DEL RBM34 ENST00000408888 human ensembl 74_37 -1 known frame_shift_del c.353 p.K118fs 0.426 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM34 HGNC ENSG00000188739 122 0 0 66 14 17.5 ARID1A 0 genome.wustl.edu 37 1 27106535 27106535 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 27106535 27106535 G - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.6146 p.W2049fs 1.000 pfam_DUF3518 pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 234 0 0 118 29 19.7279 MAP3K6 0 genome.wustl.edu 37 1 27685239 27685239 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 27685239 27685239 G - DEL MAP3K6 ENST00000357582 human ensembl 74_37 -1 known frame_shift_del c.2544 p.F849fs 0.991 pfam_Prot_kinase_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_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K6 HGNC ENSG00000142733 99 0 0 56 19 25.3333 SDC3 0 genome.wustl.edu 37 1 31347370 31347370 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 31347370 31347370 C - DEL SDC3 ENST00000339394 human ensembl 74_37 -1 known frame_shift_del c.936 p.S314fs 0.588 pfam_Syndecan/Neurexin_dom pfam_Syndecan/Neurexin_dom,smart_Neurexin-like - no_errors SDC3 HGNC ENSG00000162512 271 0 0 122 29 19.2053 BAI2 0 genome.wustl.edu 37 1 32201169 32201169 + RNA DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 32201169 32201169 C - DEL BAI2 ENST00000465256 human ensembl 74_37 -1 known rna NULL NULL 0.865 - - - no_errors BAI2 HGNC ENSG00000121753 42 0 0 28 11 28.2051 TIE1 0 genome.wustl.edu 37 1 43779120 43779120 + RNA DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 43779120 43779120 C - DEL TIE1 ENST00000473014 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors TIE1 HGNC ENSG00000066056 114 0 0 59 14 19.1781 B4GALT2 0 genome.wustl.edu 37 1 44446847 44446847 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 44446847 44446847 G - DEL B4GALT2 ENST00000309519 human ensembl 74_37 +1 known frame_shift_del c.102 p.T37fs 1.000 NULL pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT2 HGNC ENSG00000117411 64 0 0 40 10 20 CYB5RL 0 genome.wustl.edu 37 1 54645011 54645013 + In_Frame_Del DEL GAG GAG - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 54645011 54645013 GAG - DEL CYB5RL ENST00000419823 human ensembl 74_37 -1 known in_frame_del c.555_553 p.L187in_frame_del 1.000:1.000:1.000 pfam_OxRdtase_FAD/NAD-bd,prints_NADH-Cyt_B5_reductase,prints_Phe_hydroxylase pfam_OxRdtase_FAD-bd_dom,pfam_Oxidoreductase-like_N,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Phe_hydroxylase - no_errors CYB5RL HGNC ENSG00000215883 32 0 0 23 3 11.5385 SSBP3 0 genome.wustl.edu 37 1 54870294 54870294 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 54870294 54870294 T - DEL SSBP3 ENST00000371320 human ensembl 74_37 -1 known frame_shift_del c.146 p.N49fs 1.000 prints_SSDP_DNA-bd smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd - no_errors SSBP3 HGNC ENSG00000157216 113 0 0 73 16 17.9775 C1orf177 0 genome.wustl.edu 37 1 55279487 55279487 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 55279487 55279487 A - DEL C1orf177 ENST00000371273 human ensembl 74_37 +1 known frame_shift_del c.763 p.K257fs 0.997 NULL NULL - no_errors C1orf177 HGNC ENSG00000162398 83 0 0 35 12 25.5319 FGGY 0 genome.wustl.edu 37 1 59812016 59812017 + Frame_Shift_Ins INS - - G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 59812016 59812017 - G INS FGGY ENST00000303721 human ensembl 74_37 +1 known frame_shift_ins c.411_412 p.V139fs 0.394:0.997 pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel - no_errors FGGY HGNC ENSG00000172456 79 0 0 47 9 16.0714 ZRANB2 0 genome.wustl.edu 37 1 71530730 71530730 + RNA DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 71530730 71530730 T - DEL ZRANB2 ENST00000477096 human ensembl 74_37 -1 known rna NULL NULL 0.177 - - - no_errors ZRANB2 HGNC ENSG00000132485 20 0 0 18 6 25 HFM1 0 genome.wustl.edu 37 1 91727836 91727836 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 91727836 91727836 A - DEL HFM1 ENST00000370425 human ensembl 74_37 -1 known frame_shift_del c.4200 p.F1400fs 0.251 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 61 0 0 34 13 27.6596 ARHGAP29 0 genome.wustl.edu 37 1 94643144 94643144 + RNA DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 1 94643144 94643144 T - DEL ARHGAP29 ENST00000482481 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ARHGAP29 HGNC ENSG00000137962 31 0 0 12 7 36.8421 ABCC2 0 genome.wustl.edu 37 10 101554308 101554309 + RNA INS - - T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 101554308 101554309 - T INS ABCC2 ENST00000496621 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.002 - - - no_errors ABCC2 HGNC ENSG00000023839 12 0 0 10 2 16.6667 PAX2 0 genome.wustl.edu 37 10 102509528 102509529 + Frame_Shift_Ins INS - - G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 102509528 102509529 - G INS PAX2 ENST00000370296 human ensembl 74_37 +1 known frame_shift_ins c.69_70 p.V25fs 1.000:1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX2 HGNC ENSG00000075891 125 0 0 53 10 15.873 PPRC1 0 genome.wustl.edu 37 10 103901077 103901077 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 103901077 103901077 C - DEL PPRC1 ENST00000278070 human ensembl 74_37 +1 known frame_shift_del c.2812 p.P940fs 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 105 0 0 37 10 21.2766 PSD 0 genome.wustl.edu 37 10 104174959 104174959 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 104174959 104174959 G - DEL PSD ENST00000020673 human ensembl 74_37 -1 known frame_shift_del c.785 p.P262fs 0.922 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 84 0 0 43 20 31.746 ACSL5 0 genome.wustl.edu 37 10 114136194 114136195 + Frame_Shift_Ins INS - - C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 114136194 114136195 - C INS ACSL5 ENST00000356116 human ensembl 74_37 +1 known frame_shift_ins c.127_128 p.S45fs 0.000:0.002 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSL5 HGNC ENSG00000197142 126 0 0 71 19 21.1111 PNLIPRP2 0 genome.wustl.edu 37 10 118396399 118396400 + Frame_Shift_Del DEL AC AC - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 118396399 118396400 AC - DEL PNLIPRP2 ENST00000537242 human ensembl 74_37 +1 known frame_shift_del c.1040_1041 p.T348fs 1.000:1.000 pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipase_panc,prints_Lipase,pfscan_PLAT/LH2_dom - no_errors PNLIPRP2 HGNC ENSG00000165862 36 0 0 12 4 25 PDZD8 0 genome.wustl.edu 37 10 119042898 119042898 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 119042898 119042898 T - DEL PDZD8 ENST00000334464 human ensembl 74_37 -1 known frame_shift_del c.3346 p.I1116fs 0.572 NULL pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PDZD8 HGNC ENSG00000165650 93 0 0 31 12 27.907 OAT 0 genome.wustl.edu 37 10 126091634 126091634 + RNA DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 126091634 126091634 A - DEL OAT ENST00000471127 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors OAT HGNC ENSG00000065154 178 0 0 93 37 28.4615 OPTN 0 genome.wustl.edu 37 10 13168010 13168010 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 13168010 13168010 A - DEL OPTN ENST00000263036 human ensembl 74_37 +1 known frame_shift_del c.1213 p.T406fs 0.596 NULL pfam_NEMO_N - no_errors OPTN HGNC ENSG00000123240 79 0 0 55 9 14.0625 PTER 0 genome.wustl.edu 37 10 16526567 16526567 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 16526567 16526567 A - DEL PTER ENST00000298942 human ensembl 74_37 +1 known frame_shift_del c.184 p.N63fs 1.000 pfam_Aryldialkylphosphatase pfam_Aryldialkylphosphatase,pfam_TatD_family - no_errors PTER HGNC ENSG00000165983 114 0 0 94 19 16.8142 KIAA1217 0 genome.wustl.edu 37 10 24508692 24508692 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 24508692 24508692 G - DEL KIAA1217 ENST00000376454 human ensembl 74_37 +1 known frame_shift_del c.208 p.R73fs 1.000 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 136 1 0.729927 103 12 10.4348 ZEB1 0 genome.wustl.edu 37 10 31815887 31815888 + Frame_Shift_Del DEL GA GA - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 31815887 31815888 GA - DEL ZEB1 ENST00000361642 human ensembl 74_37 +1 known frame_shift_del c.3073_3074 p.S1028fs 1.000:1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 64 0 0 26 5 16.129 FLJ31813 0 genome.wustl.edu 37 10 51821328 51821328 + RNA DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 51821328 51821328 G - DEL FLJ31813 ENST00000456967 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors RP11-324H6.5 Clone_based_vega_gene ENSG00000235618 751 0 0 697 54 7.19041 JMJD1C 0 genome.wustl.edu 37 10 64952699 64952699 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 64952699 64952699 T - DEL JMJD1C ENST00000399262 human ensembl 74_37 -1 known frame_shift_del c.6075 p.E2026fs 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 133 1 0.746269 132 24 15.3846 DNA2 0 genome.wustl.edu 37 10 70182521 70182521 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 70182521 70182521 A - DEL DNA2 ENST00000399180 human ensembl 74_37 -1 known frame_shift_del c.2593 p.S865fs 1.000 superfamily_P-loop_NTPase pfam_DNA_replication_fac_Dna2_N,superfamily_P-loop_NTPase - no_errors DNA2 HGNC ENSG00000138346 61 0 0 59 11 15.7143 TET1 0 genome.wustl.edu 37 10 70332675 70332676 + Frame_Shift_Ins INS - - A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 70332675 70332676 - A INS TET1 ENST00000373644 human ensembl 74_37 +1 known frame_shift_ins c.580_581 p.R195fs 0.175:0.169 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 111 0 0 116 23 16.5468 PRF1 0 genome.wustl.edu 37 10 72358049 72358049 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 72358049 72358049 C - DEL PRF1 ENST00000373209 human ensembl 74_37 -1 known frame_shift_del c.1428 p.L478fs 0.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_MACPF,pfam_C2_dom,superfamily_C2_dom,smart_MACPF,smart_C2_dom,pfscan_C2_dom - no_errors PRF1 HGNC ENSG00000180644 177 0 0 191 33 14.7321 ASCC1 0 genome.wustl.edu 37 10 73970504 73970504 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 73970504 73970504 G - DEL ASCC1 ENST00000342444 human ensembl 74_37 -1 known frame_shift_del c.198 p.S67fs 1.000 pirsf_Euk_LigT pfam_Kinase-A_anchor_nucl_local_sig,pfam_KH_dom_type_1,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_Euk_LigT,pfscan_KH_dom_type_1 - no_errors ASCC1 HGNC ENSG00000138303 76 0 0 89 8 8.24742 ZMIZ1 0 genome.wustl.edu 37 10 81037036 81037036 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 81037036 81037036 C - DEL ZMIZ1 ENST00000334512 human ensembl 74_37 +1 known frame_shift_del c.379 p.P128fs 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ENSG00000108175 71 0 0 79 15 15.9574 LRIT1 0 genome.wustl.edu 37 10 86001144 86001144 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 10 86001144 86001144 G - DEL LRIT1 ENST00000372105 human ensembl 74_37 -1 known frame_shift_del c.52 p.Q18fs 0.600 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRIT1 HGNC ENSG00000148602 41 0 0 15 5 25 C11orf70 0 genome.wustl.edu 37 11 101937275 101937275 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 101937275 101937275 T - DEL C11orf70 ENST00000434758 human ensembl 74_37 +1 known frame_shift_del c.328 p.H112fs 1.000 NULL NULL - no_errors C11orf70 HGNC ENSG00000137691 120 0 0 64 18 21.9512 CXCR5 0 genome.wustl.edu 37 11 118764379 118764379 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 118764379 118764379 G - DEL CXCR5 ENST00000292174 human ensembl 74_37 +1 known frame_shift_del c.126 p.L45fs 0.132 prints_Chemokine_CXCR5 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR5,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_ATII_rcpt - no_errors CXCR5 HGNC ENSG00000160683 164 0 0 152 22 12.6437 BCL9L 0 genome.wustl.edu 37 11 118772974 118772974 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 118772974 118772974 G - DEL BCL9L ENST00000334801 human ensembl 74_37 -1 known frame_shift_del c.1478 p.P493fs 0.944 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 295 0 0 280 30 9.67742 BCL9L 0 genome.wustl.edu 37 11 118773098 118773098 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 118773098 118773098 G - DEL BCL9L ENST00000334801 human ensembl 74_37 -1 known frame_shift_del c.1354 p.Q452fs 0.247 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 66 0 0 52 12 18.75 TECTA 0 genome.wustl.edu 37 11 120996203 120996203 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 120996203 120996203 A - DEL TECTA ENST00000264037 human ensembl 74_37 +1 known frame_shift_del c.1396 p.N467fs 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 323 0 0 339 56 14.1772 TECTA 0 genome.wustl.edu 37 11 120998952 120998954 + In_Frame_Del DEL AAG AAG - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 120998952 120998954 AAG - DEL TECTA ENST00000264037 human ensembl 74_37 +1 known in_frame_del c.2266_2268 p.K758in_frame_del 1.000:1.000:1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 184 0 0 169 15 8.15217 C11orf63 0 genome.wustl.edu 37 11 122775925 122775925 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 122775925 122775925 T - DEL C11orf63 ENST00000307257 human ensembl 74_37 +1 known frame_shift_del c.910 p.W305fs 0.001 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 120 0 0 60 20 25 CCDC73 0 genome.wustl.edu 37 11 32637520 32637520 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 32637520 32637520 T - DEL CCDC73 ENST00000335185 human ensembl 74_37 -1 known frame_shift_del c.1341 p.E448fs 0.000 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 55 0 0 26 2 7.14286 NR1H3 0 genome.wustl.edu 37 11 47282887 47282887 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 47282887 47282887 C - DEL NR1H3 ENST00000441012 human ensembl 74_37 +1 known frame_shift_del c.595 p.Q201fs 0.928 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Ecdystd_rcpt - no_errors NR1H3 HGNC ENSG00000025434 78 0 0 38 15 28.3019 MYBPC3 0 genome.wustl.edu 37 11 47360232 47360233 + Splice_Site INS - - G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 47360232 47360233 - G INS MYBPC3 ENST00000399249 human ensembl 74_37 -1 known splice_site_ins c.2149-3_2149-2 e22-2 0.994:0.499 - - - no_errors MYBPC3 HGNC ENSG00000134571 21 0 0 19 4 17.3913 HBB 0 genome.wustl.edu 37 11 5248202 5248202 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 5248202 5248202 C - DEL HBB ENST00000335295 human ensembl 74_37 -1 known frame_shift_del c.50 p.G17fs 0.134 pfam_Globin,superfamily_Globin-like,pfscan_Globin pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b - no_errors HBB HGNC ENSG00000244734 134 0 0 95 16 14.4144 FAM111A 0 genome.wustl.edu 37 11 58920650 58920651 + Frame_Shift_Ins INS - - A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 58920650 58920651 - A INS FAM111A ENST00000361723 human ensembl 74_37 +1 known frame_shift_ins c.1509_1510 p.A505fs 0.001:0.002 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom - no_errors FAM111A HGNC ENSG00000166801 202 1 0.492611 107 35 24.6479 FIBP 0 genome.wustl.edu 37 11 65653077 65653077 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 65653077 65653077 T - DEL FIBP ENST00000338369 human ensembl 74_37 -1 known frame_shift_del c.570 p.K190fs 1.000 pfam_FIBP pfam_FIBP - no_errors FIBP HGNC ENSG00000172500 263 0 0 114 37 24.5033 SYT12 0 genome.wustl.edu 37 11 66802126 66802126 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 66802126 66802126 C - DEL SYT12 ENST00000393946 human ensembl 74_37 +1 known frame_shift_del c.45 p.P17fs 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT12 HGNC ENSG00000173227 113 0 0 52 10 16.129 PITPNM1 0 genome.wustl.edu 37 11 67267649 67267649 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 67267649 67267649 G - DEL PITPNM1 ENST00000356404 human ensembl 74_37 -1 known frame_shift_del c.884 p.P295fs 0.012 NULL pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 115 1 0.862069 74 21 22.1053 MYO7A 0 genome.wustl.edu 37 11 76873960 76873961 + Frame_Shift_Ins INS - - C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 11 76873960 76873961 - C INS MYO7A ENST00000409709 human ensembl 74_37 +1 known frame_shift_ins c.1616_1617 p.K542fs 0.998:0.302 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 282 1 0.353357 155 41 20.9184 TAS2R10 0 genome.wustl.edu 37 12 10978282 10978282 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 10978282 10978282 A - DEL TAS2R10 ENST00000240619 human ensembl 74_37 -1 known frame_shift_del c.587 p.L196fs 0.009 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R10 HGNC ENSG00000121318 112 0 0 74 21 22.1053 MVK 0 genome.wustl.edu 37 12 110019240 110019240 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 110019240 110019240 C - DEL MVK ENST00000228510 human ensembl 74_37 +1 known frame_shift_del c.412 p.A141fs 1.000 pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Mev_gal_kin pfam_GHMP_kinase_N_dom,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Mev_gal_kin - no_errors MVK HGNC ENSG00000110921 156 0 0 85 15 15 HNF1A 0 genome.wustl.edu 37 12 121432118 121432118 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 121432118 121432118 C - DEL HNF1A ENST00000257555 human ensembl 74_37 +1 known frame_shift_del c.865 p.P291fs 1.000 pfam_HNF1b_C pfam_HNF1b_C,pfam_HNF-1_N,pfam_HNF1a_C,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HNF1A HGNC ENSG00000135100 24 0 0 11 11 50 HNF1A 0 genome.wustl.edu 37 12 121434361 121434361 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 121434361 121434361 C - DEL HNF1A ENST00000257555 human ensembl 74_37 +1 known frame_shift_del c.1125 p.L377fs 0.002 pfam_HNF1b_C pfam_HNF1b_C,pfam_HNF-1_N,pfam_HNF1a_C,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HNF1A HGNC ENSG00000135100 43 0 0 37 11 22.9167 B3GNT4 0 genome.wustl.edu 37 12 122691422 122691422 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 122691422 122691422 C - DEL B3GNT4 ENST00000324189 human ensembl 74_37 +1 known frame_shift_del c.624 p.Q210fs 1.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT4 HGNC ENSG00000176383 130 0 0 75 18 19.3548 VPS37B 0 genome.wustl.edu 37 12 123351956 123351956 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 123351956 123351956 G - DEL VPS37B ENST00000267202 human ensembl 74_37 -1 known frame_shift_del c.565 p.L189fs 0.003 NULL pfam_Mod_r - no_errors VPS37B HGNC ENSG00000139722 88 0 0 56 7 11.1111 SBNO1 0 genome.wustl.edu 37 12 123805365 123805365 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 123805365 123805365 T - DEL SBNO1 ENST00000420886 human ensembl 74_37 -1 known frame_shift_del c.2372 p.K791fs 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 96 0 0 49 13 20.9677 SLCO1C1 0 genome.wustl.edu 37 12 20885884 20885884 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 20885884 20885884 G - DEL SLCO1C1 ENST00000381552 human ensembl 74_37 +1 known frame_shift_del c.1228 p.I412fs 1.000 pfam_OA_transporter,pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC ENSG00000139155 133 0 0 97 16 14.1593 ALG10 0 genome.wustl.edu 37 12 34178860 34178860 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 34178860 34178860 T - DEL ALG10 ENST00000266483 human ensembl 74_37 +1 known frame_shift_del c.432 p.F146fs 1.000 pfam_Alg10,pirsf_Alg10 pfam_Alg10,pirsf_Alg10 - no_errors ALG10 HGNC ENSG00000139133 178 0 0 95 16 14.4144 KIF21A 0 genome.wustl.edu 37 12 39763594 39763594 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 39763594 39763594 T - DEL KIF21A ENST00000395670 human ensembl 74_37 -1 known frame_shift_del c.387 p.K129fs 0.976 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 69 0 0 44 12 21.4286 SLC2A13 0 genome.wustl.edu 37 12 40223908 40223908 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 40223908 40223908 C - DEL SLC2A13 ENST00000280871 human ensembl 74_37 -1 known frame_shift_del c.1442 p.G481fs 1.000 superfamily_MFS_dom_general_subst_transpt,superfamily_Plexin-like_fold,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Plexin-like_fold,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A13 HGNC ENSG00000151229 70 0 0 62 12 16.2162 LRRK2 0 genome.wustl.edu 37 12 40713870 40713870 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 40713870 40713870 A - DEL LRRK2 ENST00000298910 human ensembl 74_37 +1 known frame_shift_del c.4908 p.R1639fs 0.408 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 153 1 0.649351 101 18 15.1261 SENP1 0 genome.wustl.edu 37 12 48458896 48458896 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 48458896 48458896 T - DEL SENP1 ENST00000004980 human ensembl 74_37 -1 known frame_shift_del c.1227 p.G410fs 0.206 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP1 HGNC ENSG00000079387 65 0 0 39 14 26.4151 KRT6B 0 genome.wustl.edu 37 12 52845468 52845468 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 52845468 52845468 G - DEL KRT6B ENST00000252252 human ensembl 74_37 -1 known frame_shift_del c.395 p.P132fs 0.998 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC ENSG00000185479 285 0 0 168 22 11.5789 KRT1 0 genome.wustl.edu 37 12 53069236 53069256 + In_Frame_Del DEL TAGCTGCTACCTCCGGAGCCA TAGCTGCTACCTCCGGAGCCA - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 TAGCTGCTACCTCCGGAGCCA TAGCTGCTACCTCCGGAGCCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 53069236 53069256 TAGCTGCTACCTCCGGAGCCA - DEL KRT1 ENST00000252244 human ensembl 74_37 -1 known in_frame_del c.1676_1656 p.GSSYGSG556in_frame_del 0.001:0.003:0.006:0.057:0.050:0.289:0.318:0.300:0.271:0.768:0.774:0.736:0.722:0.556:0.001:0.001:0.000:0.000:0.093:0.054:0.001 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC ENSG00000167768 9 0 0 10 4 28.5714 OR9K2 0 genome.wustl.edu 37 12 55524524 55524524 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 55524524 55524524 A - DEL OR9K2 ENST00000305377 human ensembl 74_37 +1 known frame_shift_del c.972 p.K326fs 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9K2 HGNC ENSG00000170605 102 0 0 56 19 25.3333 PAN2 0 genome.wustl.edu 37 12 56712865 56712876 + Splice_Site DEL AACTCACCCAGA AACTCACCCAGA - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 AACTCACCCAGA AACTCACCCAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 56712865 56712876 AACTCACCCAGA - DEL PAN2 ENST00000425394 human ensembl 74_37 -1 known splice_site_del c.3376+6_3376+1 e24-1 0.986:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.482:0.999:1.000:0.997 - - - no_errors PAN2 HGNC ENSG00000135473 116 0 0 40 10 20 TIMELESS 0 genome.wustl.edu 37 12 56815562 56815562 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 56815562 56815562 C - DEL TIMELESS ENST00000553532 human ensembl 74_37 -1 known frame_shift_del c.2674 p.D892fs 1.000 pfam_TIMELESS_C pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 313 0 0 186 32 14.6789 SHMT2 0 genome.wustl.edu 37 12 57627083 57627083 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 57627083 57627083 C - DEL SHMT2 ENST00000328923 human ensembl 74_37 +1 known frame_shift_del c.978 p.H328fs 0.249 pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase - no_errors SHMT2 HGNC ENSG00000182199 110 0 0 65 7 9.72222 MBD6 0 genome.wustl.edu 37 12 57920934 57920934 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 57920934 57920934 C - DEL MBD6 ENST00000355673 human ensembl 74_37 +1 known frame_shift_del c.2006 p.P671fs 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 36 0 0 23 8 25.8065 IFFO1 0 genome.wustl.edu 37 12 6657973 6657974 + Frame_Shift_Ins INS - - C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 6657973 6657974 - C INS IFFO1 ENST00000356896 human ensembl 74_37 -1 known frame_shift_ins c.1099_1098 p.R366fs 1.000:1.000 NULL NULL - no_errors IFFO1 HGNC ENSG00000010295 51 0 0 26 10 27.7778 IRAK3 0 genome.wustl.edu 37 12 66610953 66610954 + Frame_Shift_Ins INS - - A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 66610953 66610954 - A INS IRAK3 ENST00000261233 human ensembl 74_37 +1 known frame_shift_ins c.591_592 p.M199fs 1.000:1.000 pfam_Prot_kinase_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_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Death_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom - no_errors IRAK3 HGNC ENSG00000090376 486 0 0 313 74 19.1214 C1S 0 genome.wustl.edu 37 12 7177939 7177939 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 7177939 7177939 C - DEL C1S ENST00000328916 human ensembl 74_37 +1 known frame_shift_del c.2051 p.R686fs 0.000 NULL pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors C1S HGNC ENSG00000182326 179 0 0 138 23 14.2857 EEA1 0 genome.wustl.edu 37 12 93181723 93181723 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 93181723 93181723 T - DEL EEA1 ENST00000322349 human ensembl 74_37 -1 known frame_shift_del c.3070 p.S1024fs 0.004 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC ENSG00000102189 47 0 0 35 3 7.89474 CCDC38 0 genome.wustl.edu 37 12 96288870 96288870 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 12 96288870 96288870 A - DEL CCDC38 ENST00000344280 human ensembl 74_37 -1 known frame_shift_del c.669 p.L224fs 0.996 NULL NULL - no_errors CCDC38 HGNC ENSG00000165972 186 0 0 93 35 27.3438 CDC16 0 genome.wustl.edu 37 13 115012591 115012591 + RNA DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 115012591 115012591 T - DEL CDC16 ENST00000494581 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors CDC16 HGNC ENSG00000130177 14 0 0 3 2 40 WASF3 0 genome.wustl.edu 37 13 27255386 27255387 + Frame_Shift_Ins INS - - C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 27255386 27255387 - C INS WASF3 ENST00000335327 human ensembl 74_37 +1 known frame_shift_ins c.912_913 p.P307fs 0.439:0.975 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC ENSG00000132970 114 0 0 35 20 36.3636 PDS5B 0 genome.wustl.edu 37 13 33226030 33226030 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 33226030 33226030 T - DEL PDS5B ENST00000315596 human ensembl 74_37 +1 known frame_shift_del c.198 p.L69fs 0.945 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 214 0 0 106 40 27.3973 ZC3H13 0 genome.wustl.edu 37 13 46543691 46543691 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 46543691 46543691 T - DEL ZC3H13 ENST00000242848 human ensembl 74_37 -1 known frame_shift_del c.2988 p.G997fs 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 127 0 0 58 5 7.93651 ATP7B 0 genome.wustl.edu 37 13 52538988 52538988 + RNA DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 52538988 52538988 T - DEL ATP7B ENST00000483772 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ATP7B HGNC ENSG00000123191 76 0 0 26 12 31.5789 PIBF1 0 genome.wustl.edu 37 13 73357634 73357634 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 73357634 73357634 A - DEL PIBF1 ENST00000326291 human ensembl 74_37 +1 known frame_shift_del c.27 p.V12fs 0.060 NULL superfamily_t-SNARE - no_errors PIBF1 HGNC ENSG00000083535 107 0 0 54 10 15.625 EDNRB 0 genome.wustl.edu 37 13 78475267 78475267 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 78475267 78475267 A - DEL EDNRB ENST00000334286 human ensembl 74_37 -1 known frame_shift_del c.877 p.Y293fs 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Endthln_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 82 0 0 67 14 17.284 RNF219 0 genome.wustl.edu 37 13 79190057 79190057 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 79190057 79190057 A - DEL RNF219 ENST00000282003 human ensembl 74_37 -1 known frame_shift_del c.1839 p.L614fs 0.951 NULL pfscan_Znf_RING - no_errors RNF219 HGNC ENSG00000152193 163 0 0 92 23 20 RBM26 0 genome.wustl.edu 37 13 79918807 79918807 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 79918807 79918807 T - DEL RBM26 ENST00000438724 human ensembl 74_37 -1 known frame_shift_del c.2109 p.K703fs 1.000 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM26 HGNC ENSG00000139746 60 0 0 49 17 25.7576 ABCC4 0 genome.wustl.edu 37 13 95696016 95696016 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 95696016 95696016 T - DEL ABCC4 ENST00000376887 human ensembl 74_37 -1 known frame_shift_del c.3655 p.I1219fs 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 124 1 0.8 59 50 45.8716 DOCK9 0 genome.wustl.edu 37 13 99502311 99502312 + Frame_Shift_Ins INS - - A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 13 99502311 99502312 - A INS DOCK9 ENST00000339416 human ensembl 74_37 -1 known frame_shift_ins c.4006_4005 p.T1335fs 1.000:1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 15 0 0 13 3 18.75 CRIP1 0 genome.wustl.edu 37 14 105954583 105954583 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 105954583 105954583 G - DEL CRIP1 ENST00000330233 human ensembl 74_37 +1 known frame_shift_del c.121 p.G42fs 0.994 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors CRIP1 HGNC ENSG00000213145 121 0 0 58 15 20.5479 OR4K5 0 genome.wustl.edu 37 14 20389293 20389294 + Frame_Shift_Ins INS - - T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 20389293 20389294 - T INS OR4K5 ENST00000315915 human ensembl 74_37 +1 known frame_shift_ins c.528_529 p.C178fs 0.025:0.411 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 OR4K5 HGNC ENSG00000176281 756 0 0 385 58 13.0926 REM2 0 genome.wustl.edu 37 14 23355275 23355275 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 23355275 23355275 G - DEL REM2 ENST00000267396 human ensembl 74_37 +1 known frame_shift_del c.562 p.D189fs 1.000 pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase - no_errors REM2 HGNC ENSG00000139890 138 0 0 118 12 9.23077 IPO4 0 genome.wustl.edu 37 14 24655356 24655356 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 24655356 24655356 G - DEL IPO4 ENST00000354464 human ensembl 74_37 -1 known frame_shift_del c.1038 p.E347fs 0.539 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors IPO4 HGNC ENSG00000196497 157 0 0 89 19 17.5926 NPAS3 0 genome.wustl.edu 37 14 34269626 34269626 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 34269626 34269626 G - DEL NPAS3 ENST00000356141 human ensembl 74_37 +1 known frame_shift_del c.2113 p.L707fs 0.003 NULL pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS3 HGNC ENSG00000151322 43 0 0 25 3 10.7143 ARID4A 0 genome.wustl.edu 37 14 58814451 58814451 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 58814451 58814451 A - DEL ARID4A ENST00000355431 human ensembl 74_37 +1 known frame_shift_del c.1259 p.D423fs 0.935 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ENSG00000032219 90 0 0 44 10 18.5185 ELMSAN1 0 genome.wustl.edu 37 14 74206606 74206606 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 74206606 74206606 G - DEL ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known frame_shift_del c.106 p.Q36fs 0.686 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 166 1 0.598802 89 13 12.7451 TRIP11 0 genome.wustl.edu 37 14 92472698 92472698 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 92472698 92472698 T - DEL TRIP11 ENST00000267622 human ensembl 74_37 -1 known frame_shift_del c.1622 p.K541fs 0.995 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC ENSG00000100815 66 0 0 35 5 12.5 PAPOLA 0 genome.wustl.edu 37 14 96986535 96986535 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 14 96986535 96986535 T - DEL PAPOLA ENST00000216277 human ensembl 74_37 +1 known frame_shift_del c.152 p.F52fs 1.000 pfam_PolA_pol_cen_dom,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLA HGNC ENSG00000090060 121 0 0 65 8 10.9589 MAGEL2 0 genome.wustl.edu 37 15 23890303 23890303 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 23890303 23890303 G - DEL MAGEL2 ENST00000532292 human ensembl 74_37 -1 known frame_shift_del c.778 p.Q260fs 0.356 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 146 0 0 68 9 11.6883 SLC12A1 0 genome.wustl.edu 37 15 48527143 48527143 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 48527143 48527143 T - DEL SLC12A1 ENST00000380993 human ensembl 74_37 +1 known frame_shift_del c.1157 p.F388fs 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A1 HGNC ENSG00000074803 145 0 0 86 31 26.4957 AQP9 0 genome.wustl.edu 37 15 58430791 58430791 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 58430791 58430791 A - DEL AQP9 ENST00000219919 human ensembl 74_37 +1 known frame_shift_del c.27 p.S11fs 0.010 NULL pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_9,prints_Aquaporin_3,prints_Aquaporin_10,tigrfam_MIP - no_errors AQP9 HGNC ENSG00000103569 128 0 0 98 7 6.66667 SLTM 0 genome.wustl.edu 37 15 59182636 59182637 + Frame_Shift_Del DEL CT CT - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 59182636 59182637 CT - DEL SLTM ENST00000380516 human ensembl 74_37 -1 known frame_shift_del c.1923_1922 p.E641fs 1.000:1.000 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SLTM HGNC ENSG00000137776 110 0 0 98 16 14.0351 ITGA11 0 genome.wustl.edu 37 15 68596150 68596150 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 68596150 68596150 C - DEL ITGA11 ENST00000315757 human ensembl 74_37 -1 known frame_shift_del c.3455 p.G1152fs 1.000 prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA11 HGNC ENSG00000137809 124 0 0 86 17 16.5049 UACA 0 genome.wustl.edu 37 15 70959979 70959979 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 70959979 70959979 T - DEL UACA ENST00000322954 human ensembl 74_37 -1 known frame_shift_del c.3044 p.K1015fs 0.005 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 108 0 0 58 7 10.7692 NR2E3 0 genome.wustl.edu 37 15 72109863 72109863 + RNA DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 72109863 72109863 A - DEL NR2E3 ENST00000563709 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NR2E3 HGNC ENSG00000031544 186 0 0 106 36 25.3521 PEAK1 0 genome.wustl.edu 37 15 77451007 77451007 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 77451007 77451007 A - DEL PEAK1 ENST00000312493 human ensembl 74_37 -1 known frame_shift_del c.3169 p.S1057fs 0.971 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors PEAK1 HGNC ENSG00000173517 68 0 0 48 4 7.69231 IGF1R 0 genome.wustl.edu 37 15 99500618 99500618 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 15 99500618 99500618 G - DEL IGF1R ENST00000268035 human ensembl 74_37 +1 known frame_shift_del c.4051 p.G1352fs 1.000 pirsf_Tyr_kinase_insulin-like_rcpt pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors IGF1R HGNC ENSG00000140443 102 0 0 89 12 11.8812 CIITA 0 genome.wustl.edu 37 16 11001305 11001305 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 11001305 11001305 C - DEL CIITA ENST00000324288 human ensembl 74_37 +1 known frame_shift_del c.1956 p.656fs 0.128 pfscan_NACHT_NTPase,prints_MHC_II_transact superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC ENSG00000179583 52 0 0 42 11 20.7547 MKL2 0 genome.wustl.edu 37 16 14346299 14346300 + Frame_Shift_Ins INS - - C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 14346299 14346300 - C INS MKL2 ENST00000341243 human ensembl 74_37 +1 known frame_shift_ins c.2610_2611 p.R872fs 0.993:1.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL2 HGNC ENSG00000186260 104 0 0 63 6 8.69565 C16orf45 0 genome.wustl.edu 37 16 15675079 15675080 + Frame_Shift_Ins INS - - A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 15675079 15675080 - A INS C16orf45 ENST00000300006 human ensembl 74_37 +1 known frame_shift_ins c.310_311 p.T106fs 1.000:1.000 pfam_DUF3585 pfam_DUF3585 - no_errors C16orf45 HGNC ENSG00000166780 30 0 0 19 5 20.8333 POLR3E 0 genome.wustl.edu 37 16 22339833 22339834 + Frame_Shift_Ins INS - - C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 22339833 22339834 - C INS POLR3E ENST00000299853 human ensembl 74_37 +1 known frame_shift_ins c.1869_1870 p.Q625fs 1.000:1.000 NULL pfam_RNA_pol_III_Rpc5 - no_errors POLR3E HGNC ENSG00000058600 121 0 0 89 16 15.2381 ITGAL 0 genome.wustl.edu 37 16 30522245 30522245 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 30522245 30522245 G - DEL ITGAL ENST00000356798 human ensembl 74_37 +1 known frame_shift_del c.2663 p.D890fs 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAL HGNC ENSG00000005844 107 0 0 44 19 30.1587 ITGAX 0 genome.wustl.edu 37 16 31373986 31373986 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 31373986 31373986 C - DEL ITGAX ENST00000268296 human ensembl 74_37 +1 known frame_shift_del c.1271 p.R426fs 1.000 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 73 0 0 16 6 27.2727 ALG1 0 genome.wustl.edu 37 16 5134879 5134880 + Frame_Shift_Del DEL AT AT - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 5134879 5134880 AT - DEL ALG1 ENST00000262374 human ensembl 74_37 +1 known frame_shift_del c.1392_1393 p.*465fs 0.000:0.001 NULL pfam_Glyco_trans_1 - no_errors ALG1 HGNC ENSG00000033011 146 0 0 61 13 17.5676 GPR114 0 genome.wustl.edu 37 16 57600566 57600566 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 57600566 57600566 G - DEL GPR114 ENST00000340339 human ensembl 74_37 +1 known frame_shift_del c.602 p.G203fs 0.995 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR114 HGNC ENSG00000159618 153 0 0 49 18 26.8657 TXNL4B 0 genome.wustl.edu 37 16 72120608 72120608 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 72120608 72120608 C - DEL TXNL4B ENST00000268483 human ensembl 74_37 -1 known frame_shift_del c.378 p.K127fs 0.886 pfam_mRNA_splic_U5,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5 pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5 - no_errors TXNL4B HGNC ENSG00000140830 126 0 0 54 29 34.9398 PMFBP1 0 genome.wustl.edu 37 16 72153724 72153725 + Frame_Shift_Ins INS - - T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 72153724 72153725 - T INS PMFBP1 ENST00000537465 human ensembl 74_37 -1 known frame_shift_ins c.3048_3047 p.N1016fs 0.000:0.000 NULL NULL - no_errors PMFBP1 HGNC ENSG00000118557 120 0 0 60 9 13.0435 CHST5 0 genome.wustl.edu 37 16 75563855 75563855 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 75563855 75563855 A - DEL CHST5 ENST00000541075 human ensembl 74_37 -1 known frame_shift_del c.446 p.F149fs 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST5 HGNC ENSG00000135702 214 0 0 71 30 29.703 NUDT7 0 genome.wustl.edu 37 16 77775744 77775744 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 77775744 77775744 A - DEL NUDT7 ENST00000268533 human ensembl 74_37 +1 known frame_shift_del c.614 p.K207fs 0.000 NULL pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT7 HGNC ENSG00000140876 76 0 0 37 12 24.4898 NARFL 0 genome.wustl.edu 37 16 789708 789708 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 789708 789708 T - DEL NARFL ENST00000251588 human ensembl 74_37 -1 known frame_shift_del c.97 p.R33fs 0.975 NULL pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARFL HGNC ENSG00000103245 199 0 0 118 21 15.1079 KLHDC4 0 genome.wustl.edu 37 16 87790005 87790005 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 87790005 87790005 T - DEL KLHDC4 ENST00000270583 human ensembl 74_37 -1 known frame_shift_del c.270 p.T91fs 1.000 NULL pfam_Kelch_2,pfam_Kelch_1 - no_errors KLHDC4 HGNC ENSG00000104731 45 0 0 34 15 30.6122 VPS9D1 0 genome.wustl.edu 37 16 89775777 89775777 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 16 89775777 89775777 G - DEL VPS9D1 ENST00000389386 human ensembl 74_37 -1 known frame_shift_del c.1455 p.T486fs 0.004 pfscan_VPS9 pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 - no_errors VPS9D1 HGNC ENSG00000075399 131 0 0 53 6 10.1695 RAI1 0 genome.wustl.edu 37 17 17696630 17696630 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 17696630 17696630 C - DEL RAI1 ENST00000353383 human ensembl 74_37 +1 known frame_shift_del c.368 p.P124fs 0.459 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 40 0 0 9 7 43.75 CPD 0 genome.wustl.edu 37 17 28706682 28706683 + Frame_Shift_Ins INS - - C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 28706682 28706683 - C INS CPD ENST00000225719 human ensembl 74_37 +1 known frame_shift_ins c.684_685 p.A230fs 0.814:0.847 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPD HGNC ENSG00000108582 23 0 0 14 6 30 EVI2B 0 genome.wustl.edu 37 17 29632035 29632035 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 29632035 29632035 T - DEL EVI2B ENST00000544462 human ensembl 74_37 -1 known frame_shift_del c.638 p.N213fs 0.000 NULL NULL - no_errors EVI2B HGNC ENSG00000185862 198 0 0 145 13 8.22785 RAD51D 0 genome.wustl.edu 37 17 33433192 33433192 + RNA DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 33433192 33433192 G - DEL RAD51D ENST00000415064 human ensembl 74_37 -1 known rna NULL NULL 0.019 - - - no_errors RAD51D HGNC ENSG00000185379 47 0 0 40 12 23.0769 KRT24 0 genome.wustl.edu 37 17 38859836 38859836 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 38859836 38859836 C - DEL KRT24 ENST00000264651 human ensembl 74_37 -1 known frame_shift_del c.110 p.G37fs 0.984 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT24 HGNC ENSG00000167916 156 0 0 112 20 15.1515 KLHL10 0 genome.wustl.edu 37 17 40001675 40001675 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 40001675 40001675 C - DEL KLHL10 ENST00000293303 human ensembl 74_37 +1 known frame_shift_del c.982 p.R329fs 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL10 HGNC ENSG00000161594 131 0 0 55 27 32.9268 ENSG00000266962 0 genome.wustl.edu 37 17 40705711 40705711 + RNA DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 40705711 40705711 G - DEL ENSG00000266962 ENST00000590513 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-400F19.6 Clone_based_vega_gene ENSG00000266962 25 0 0 20 5 20 AOC2 0 genome.wustl.edu 37 17 41002339 41002339 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 41002339 41002339 C - DEL AOC2 ENST00000253799 human ensembl 74_37 +1 known frame_shift_del c.2245 p.P750fs 0.982 superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC2 HGNC ENSG00000131480 468 0 0 311 51 14.0884 NXPH3 0 genome.wustl.edu 37 17 47656169 47656170 + Frame_Shift_Ins INS - - C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 47656169 47656170 - C INS NXPH3 ENST00000328741 human ensembl 74_37 +1 known frame_shift_ins c.266_267 p.P92fs 0.931:0.977 pfam_NXPH/NXPE,pirsf_Neurexophilin pfam_NXPH/NXPE,pirsf_Neurexophilin - no_errors NXPH3 HGNC ENSG00000182575 72 0 0 42 9 17.6471 KAT7 0 genome.wustl.edu 37 17 47869397 47869398 + Splice_Site INS - - A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 47869397 47869398 - A INS KAT7 ENST00000259021 human ensembl 74_37 +1 known splice_site_ins c.163+2_163+1 e2+2 1.000:0.994 - - - no_errors KAT7 HGNC ENSG00000136504 72 0 0 37 10 21.2766 XYLT2 0 genome.wustl.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 48433967 48433967 C - DEL XYLT2 ENST00000017003 human ensembl 74_37 +1 known frame_shift_del c.1578 p.G529fs 1.000 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 147 0 0 52 17 24.6377 SPAG9 0 genome.wustl.edu 37 17 49077041 49077041 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 49077041 49077041 T - DEL SPAG9 ENST00000262013 human ensembl 74_37 -1 known frame_shift_del c.1645 p.R549fs 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors SPAG9 HGNC ENSG00000008294 78 0 0 54 21 28 COIL 0 genome.wustl.edu 37 17 55028118 55028118 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 55028118 55028118 T - DEL COIL ENST00000240316 human ensembl 74_37 -1 known frame_shift_del c.485 p.N162fs 0.013 NULL NULL - no_errors COIL HGNC ENSG00000121058 176 1 0.564972 122 25 17.0068 PPM1D 0 genome.wustl.edu 37 17 58740624 58740624 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 58740624 58740624 A - DEL PPM1D ENST00000305921 human ensembl 74_37 +1 known frame_shift_del c.1529 p.N512fs 0.997 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1D HGNC ENSG00000170836 125 1 0.793651 85 14 14.1414 TBX4 0 genome.wustl.edu 37 17 59560344 59560345 + Frame_Shift_Ins INS - - C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 59560344 59560345 - C INS TBX4 ENST00000393853 human ensembl 74_37 +1 known frame_shift_ins c.1108_1109 p.P373fs 1.000:1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX4 HGNC ENSG00000121075 52 0 0 32 7 17.9487 TBX4 0 genome.wustl.edu 37 17 59560345 59560345 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 59560345 59560345 C - DEL TBX4 ENST00000393853 human ensembl 74_37 +1 known frame_shift_del c.1109 p.P372fs 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX4 HGNC ENSG00000121075 52 0 0 31 8 20.5128 ABCA5 0 genome.wustl.edu 37 17 67256528 67256528 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 67256528 67256528 T - DEL ABCA5 ENST00000392677 human ensembl 74_37 -1 known frame_shift_del c.3593 p.N1198fs 0.021 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 54 0 0 33 6 15.3846 KIAA0195 0 genome.wustl.edu 37 17 73491063 73491063 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 73491063 73491063 C - DEL KIAA0195 ENST00000314256 human ensembl 74_37 +1 known frame_shift_del c.2676 p.S895fs 0.999 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 177 0 0 106 27 20.3008 ZBTB4 0 genome.wustl.edu 37 17 7369233 7369233 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 7369233 7369233 G - DEL ZBTB4 ENST00000311403 human ensembl 74_37 -1 known frame_shift_del c.888 p.E297fs 0.267 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ENSG00000174282 70 0 0 16 8 33.3333 TP53 0 genome.wustl.edu 37 17 7578275 7578277 + In_Frame_Del DEL GAG GAG - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 7578275 7578277 GAG - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known in_frame_del c.574_572 p.P191in_frame_del 0.998:0.977:0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 67 0 0 11 5 31.25 ENTHD2 0 genome.wustl.edu 37 17 79202956 79202956 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 17 79202956 79202956 T - DEL ENTHD2 ENST00000300714 human ensembl 74_37 -1 known frame_shift_del c.1350 p.G452fs 0.000 NULL pfam_Epsin_dom_N,superfamily_ENTH_VHS - no_errors ENTHD2 HGNC ENSG00000167302 55 0 0 35 7 16.6667 SLC39A6 0 genome.wustl.edu 37 18 33694188 33694188 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 33694188 33694188 T - DEL SLC39A6 ENST00000269187 human ensembl 74_37 -1 known frame_shift_del c.1715 p.N572fs 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A6 HGNC ENSG00000141424 94 0 0 25 14 35.8974 ELP2 0 genome.wustl.edu 37 18 33747078 33747079 + Frame_Shift_Ins INS - - T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 33747078 33747079 - T INS ELP2 ENST00000358232 human ensembl 74_37 +1 known frame_shift_ins c.1969_1970 p.A659fs 1.000:1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ELP2 HGNC ENSG00000134759 205 0 0 112 7 5.88235 DSEL 0 genome.wustl.edu 37 18 65178347 65178347 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 65178347 65178347 A - DEL DSEL ENST00000310045 human ensembl 74_37 -1 known frame_shift_del c.3529 p.Y1177fs 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 94 0 0 49 14 22.2222 ZNF236 0 genome.wustl.edu 37 18 74617320 74617320 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 18 74617320 74617320 A - DEL ZNF236 ENST00000253159 human ensembl 74_37 +1 known frame_shift_del c.2240 p.T749fs 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 71 0 0 38 9 19.1489 MAST1 0 genome.wustl.edu 37 19 12985060 12985060 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 12985060 12985060 G - DEL MAST1 ENST00000251472 human ensembl 74_37 +1 known frame_shift_del c.4089 p.G1365fs 0.074 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST1 HGNC ENSG00000105613 12 0 0 4 2 33.3333 NOTCH3 0 genome.wustl.edu 37 19 15289970 15289970 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 15289970 15289970 G - DEL NOTCH3 ENST00000263388 human ensembl 74_37 -1 known frame_shift_del c.3584 p.P1195fs 1.000 pirsf_Notch,pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 58 0 0 31 16 34.0426 AP1M1 0 genome.wustl.edu 37 19 16319879 16319879 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 16319879 16319879 C - DEL AP1M1 ENST00000444449 human ensembl 74_37 +1 known frame_shift_del c.437 p.P147fs 1.000 pirsf_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP1M1 HGNC ENSG00000072958 145 0 0 36 19 34.5455 CPAMD8 0 genome.wustl.edu 37 19 17039884 17039884 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 17039884 17039884 C - DEL CPAMD8 ENST00000443236 human ensembl 74_37 -1 known frame_shift_del c.3153 p.H1052fs 0.361 pfam_Methyltransf_FA pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 62 0 0 21 11 34.375 LMNB2 0 genome.wustl.edu 37 19 2431862 2431862 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 2431862 2431862 G - DEL LMNB2 ENST00000325327 human ensembl 74_37 -1 known frame_shift_del c.1629 p.S544fs 0.000 pfam_Lamin_tail_dom pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNB2 HGNC ENSG00000176619 62 0 0 23 5 17.8571 POU2F2 0 genome.wustl.edu 37 19 42599543 42599544 + Frame_Shift_Ins INS - - CGGATCA TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 42599543 42599544 - CGGATCA INS POU2F2 ENST00000342301 human ensembl 74_37 -1 known frame_shift_ins c.1026_1025 p.V343fs 0.974:1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F2 HGNC ENSG00000028277 108 0 0 26 12 31.5789 LOC101928780 0 genome.wustl.edu 37 19 54627040 54627041 + RNA DEL CA CA - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 54627040 54627041 CA - DEL LOC101928780 ENST00000452097 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors AC012314.8 Clone_based_vega_gene ENSG00000237017 10 0 0 7 3 30 LENG1 0 genome.wustl.edu 37 19 54660654 54660654 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 54660654 54660654 G - DEL LENG1 ENST00000222224 human ensembl 74_37 -1 known frame_shift_del c.422 p.P141fs 0.000 NULL NULL - no_errors LENG1 HGNC ENSG00000105617 140 0 0 58 26 30.9524 CAMSAP3 0 genome.wustl.edu 37 19 7676687 7676687 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 7676687 7676687 C - DEL CAMSAP3 ENST00000446248 human ensembl 74_37 +1 known frame_shift_del c.1389 p.P465fs 0.097 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 28 0 0 14 4 22.2222 SNAPC2 0 genome.wustl.edu 37 19 7987519 7987519 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 7987519 7987519 C - DEL SNAPC2 ENST00000221573 human ensembl 74_37 +1 known frame_shift_del c.875 p.P294fs 0.077 pfam_SnAPC_su2-like pfam_SnAPC_su2-like - no_errors SNAPC2 HGNC ENSG00000104976 160 0 0 60 18 23.0769 FBN3 0 genome.wustl.edu 37 19 8193948 8193949 + Frame_Shift_Ins INS - - G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 19 8193948 8193949 - G INS FBN3 ENST00000270509 human ensembl 74_37 -1 known frame_shift_ins c.2260_2259 p.G753fs 1.000:0.646 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 123 0 0 56 17 23.2877 IWS1 0 genome.wustl.edu 37 2 128238676 128238676 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 128238676 128238676 T - DEL IWS1 ENST00000295321 human ensembl 74_37 -1 known frame_shift_del c.2404 p.S802fs 1.000 NULL pfam_TFIIS_N,superfamily_TFIIS_N - no_errors IWS1 HGNC ENSG00000163166 154 0 0 74 25 25.2525 R3HDM1 0 genome.wustl.edu 37 2 136480084 136480084 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 136480084 136480084 A - DEL R3HDM1 ENST00000264160 human ensembl 74_37 +1 known frame_shift_del c.2905 p.A971fs 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM1 HGNC ENSG00000048991 30 0 0 24 9 27.2727 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 148683686 148683686 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1303 p.K437fs 1.000 pfam_Prot_kinase_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_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 129 0 0 53 30 36.1446 CCDC148 0 genome.wustl.edu 37 2 159077217 159077217 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 159077217 159077217 T - DEL CCDC148 ENST00000283233 human ensembl 74_37 -1 known frame_shift_del c.1260 p.K420fs 1.000 NULL NULL - no_errors CCDC148 HGNC ENSG00000153237 24 0 0 10 7 41.1765 SCN1A 0 genome.wustl.edu 37 2 166905432 166905432 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 166905432 166905432 A - DEL SCN1A ENST00000303395 human ensembl 74_37 -1 known frame_shift_del c.992 p.L331fs 0.016 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 79 0 0 28 15 34.8837 PDE11A 0 genome.wustl.edu 37 2 178936666 178936667 + Frame_Shift_Ins INS - - G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 178936666 178936667 - G INS PDE11A ENST00000286063 human ensembl 74_37 -1 known frame_shift_ins c.499_498 p.T166fs 1.000:0.997 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE11A HGNC ENSG00000128655 159 0 0 76 27 26.2136 GPR1 0 genome.wustl.edu 37 2 207041592 207041592 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 207041592 207041592 A - DEL GPR1 ENST00000407325 human ensembl 74_37 -1 known frame_shift_del c.380 p.F127fs 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_ATII_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR1_orph_rcpt,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_ATII_rcpt - no_errors GPR1 HGNC ENSG00000183671 164 0 0 91 29 24.1667 EFHD1 0 genome.wustl.edu 37 2 233527580 233527580 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 233527580 233527580 C - DEL EFHD1 ENST00000264059 human ensembl 74_37 +1 known frame_shift_del c.371 p.Q126fs 1.000 pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFHD1 HGNC ENSG00000115468 106 1 0.934579 64 14 17.9487 PASK 0 genome.wustl.edu 37 2 242062279 242062279 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 242062279 242062279 G - DEL PASK ENST00000358649 human ensembl 74_37 -1 known frame_shift_del c.2940 p.K981fs 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,superfamily_PAS,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_dom,tigrfam_PAS - no_errors PASK HGNC ENSG00000115687 124 0 0 70 16 18.6047 ANO7 0 genome.wustl.edu 37 2 242139594 242139594 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 242139594 242139594 C - DEL ANO7 ENST00000274979 human ensembl 74_37 +1 known frame_shift_del c.670 p.E226fs 0.923 NULL pfam_Anoctamin - no_errors ANO7 HGNC ENSG00000146205 61 0 0 32 8 20 SRBD1 0 genome.wustl.edu 37 2 45826841 45826841 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 45826841 45826841 T - DEL SRBD1 ENST00000263736 human ensembl 74_37 -1 known frame_shift_del c.395 p.K132fs 0.969 NULL pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SRBD1 HGNC ENSG00000068784 359 0 0 191 55 22.3577 MSH6 0 genome.wustl.edu 37 2 48030639 48030640 + Frame_Shift_Ins INS - - C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 48030639 48030640 - C INS MSH6 ENST00000234420 human ensembl 74_37 +1 known frame_shift_ins c.3253_3254 p.F1088fs 0.001:0.003 pfam_DNA_mismatch_repair_MutS_C,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_core,pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom - no_errors MSH6 HGNC ENSG00000116062 78 0 0 51 15 22.7273 PSME4 0 genome.wustl.edu 37 2 54093345 54093345 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 54093345 54093345 T - DEL PSME4 ENST00000404125 human ensembl 74_37 -1 known frame_shift_del c.5413 p.T1805fs 1.000 pfam_DUF3437,superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 199 0 0 137 27 16.4634 PSME4 0 genome.wustl.edu 37 2 54175584 54175585 + Frame_Shift_Del DEL CT CT - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 54175584 54175585 CT - DEL PSME4 ENST00000404125 human ensembl 74_37 -1 known frame_shift_del c.474_473 p.E158fs 1.000:1.000 NULL pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 190 0 0 97 22 18.4874 BCL11A 0 genome.wustl.edu 37 2 60780424 60780425 + RNA INS - - G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 60780424 60780425 - G INS BCL11A ENST00000409351 human ensembl 74_37 -1 putative rna NULL NULL 1.000:1.000 - - - no_errors BCL11A HGNC ENSG00000119866 49 0 0 23 4 14.8148 TPRKB 0 genome.wustl.edu 37 2 73957880 73957881 + RNA INS - - A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 73957880 73957881 - A INS TPRKB ENST00000485758 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.004 - - - no_errors TPRKB HGNC ENSG00000144034 46 0 0 22 3 12 PTCD3 0 genome.wustl.edu 37 2 86335644 86335645 + Frame_Shift_Ins INS - - A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 2 86335644 86335645 - A INS PTCD3 ENST00000254630 human ensembl 74_37 +1 known frame_shift_ins c.179_180 p.K63fs 1.000:1.000 NULL NULL - no_errors PTCD3 HGNC ENSG00000132300 186 0 0 133 25 15.8228 DSTN 0 genome.wustl.edu 37 20 17581680 17581680 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 17581680 17581680 T - DEL DSTN ENST00000246069 human ensembl 74_37 +1 known frame_shift_del c.301 p.L103fs 1.000 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin - no_errors DSTN HGNC ENSG00000125868 126 0 0 87 15 14.7059 RALGAPA2 0 genome.wustl.edu 37 20 20601136 20601137 + Frame_Shift_Ins INS - - T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 20601136 20601137 - T INS RALGAPA2 ENST00000202677 human ensembl 74_37 -1 known frame_shift_ins c.1372_1371 p.L457fs 0.993:0.980 NULL pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA2 HGNC ENSG00000188559 99 0 0 91 16 14.9533 BPIFB4 0 genome.wustl.edu 37 20 31671214 31671214 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 31671214 31671214 C - DEL BPIFB4 ENST00000375483 human ensembl 74_37 +1 known frame_shift_del c.211 p.P73fs 0.030 NULL pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB4 HGNC ENSG00000186191 213 1 0.46729 144 35 19.5531 TP53RK 0 genome.wustl.edu 37 20 45315440 45315440 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 45315440 45315440 T - DEL TP53RK ENST00000372114 human ensembl 74_37 -1 known frame_shift_del c.714 p.K238fs 0.243 smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom,tigrfam_Bud32 pfam_LipoPS_kinase,pfam_Prot_kinase_dom,pfam_RIO-like_kinase,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom,tigrfam_Bud32 - no_errors TP53RK HGNC ENSG00000172315 229 0 0 148 34 18.6813 PRND 0 genome.wustl.edu 37 20 4705547 4705548 + Frame_Shift_Ins INS - - G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 4705547 4705548 - G INS PRND ENST00000305817 human ensembl 74_37 +1 known frame_shift_ins c.350_351 p.E119fs 0.923:0.872 pfam_Prion/Doppel_prot_b-ribbon_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Doppel,superfamily_Prion/Doppel_prot_b-ribbon_dom - no_errors PRND HGNC ENSG00000171864 155 0 0 93 14 13.0841 MOCS3 0 genome.wustl.edu 37 20 49576420 49576421 + Frame_Shift_Ins INS - - G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 49576420 49576421 - G INS MOCS3 ENST00000244051 human ensembl 74_37 +1 known frame_shift_ins c.1041_1042 p.A348fs 0.000:0.019 superfamily_Molybdenum_cofac_synth_MoeB,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_ThiF_NAD_FAD-bd,pfam_MoeZ_MoeB,pfam_Rhodanese-like_dom,superfamily_Molybdenum_cofac_synth_MoeB,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors MOCS3 HGNC ENSG00000124217 394 0 0 273 46 14.4201 SALL4 0 genome.wustl.edu 37 20 50400983 50400983 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 50400983 50400983 C - DEL SALL4 ENST00000217086 human ensembl 74_37 -1 known frame_shift_del c.2983 p.V995fs 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 143 0 0 95 18 15.9292 GPCPD1 0 genome.wustl.edu 37 20 5559030 5559030 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 5559030 5559030 A - DEL GPCPD1 ENST00000379019 human ensembl 74_37 -1 known frame_shift_del c.701 p.F234fs 1.000 NULL pfam_GlyceroP-diester-Pdiesterase,pfam_CBM_fam20,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Carb-bd-like_fold,pfscan_CBM_fam20 - no_errors GPCPD1 HGNC ENSG00000125772 94 0 0 72 17 19.1011 TUBB1 0 genome.wustl.edu 37 20 57599554 57599554 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 57599554 57599554 C - DEL TUBB1 ENST00000217133 human ensembl 74_37 +1 known frame_shift_del c.1072 p.R359fs 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin - no_errors TUBB1 HGNC ENSG00000101162 78 0 0 59 12 16.9014 SYCP2 0 genome.wustl.edu 37 20 58452519 58452519 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 20 58452519 58452519 T - DEL SYCP2 ENST00000357552 human ensembl 74_37 -1 known frame_shift_del c.3071 p.N1024fs 1.000 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 77 0 0 64 11 14.6667 C21orf59 0 genome.wustl.edu 37 21 33982177 33982177 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 21 33982177 33982177 T - DEL C21orf59 ENST00000290155 human ensembl 74_37 -1 known frame_shift_del c.278 p.K93fs 1.000 NULL pfam_DUF2870 - no_errors C21orf59 HGNC ENSG00000159079 76 0 0 69 7 9.21053 DOPEY2 0 genome.wustl.edu 37 21 37618196 37618196 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 21 37618196 37618196 C - DEL DOPEY2 ENST00000399151 human ensembl 74_37 +1 known frame_shift_del c.3918 p.H1308fs 0.779 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 287 0 0 102 37 26.6187 UBE2G2 0 genome.wustl.edu 37 21 46191156 46191157 + RNA DEL AA AA - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 21 46191156 46191157 AA - DEL UBE2G2 ENST00000477954 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors UBE2G2 HGNC ENSG00000184787 22 0 0 4 7 63.6364 TPTEP1 0 genome.wustl.edu 37 22 17082963 17082965 + RNA DEL GGA GGA - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 17082963 17082965 GGA - DEL TPTEP1 ENST00000400593 human ensembl 74_37 +1 known rna NULL NULL 0.997:0.998:0.998 - - - no_errors TPTEP1 HGNC ENSG00000100181 19 0 0 2 2 50 OSBP2 0 genome.wustl.edu 37 22 31289119 31289120 + Frame_Shift_Ins INS - - C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 31289119 31289120 - C INS OSBP2 ENST00000332585 human ensembl 74_37 +1 known frame_shift_ins c.1880_1881 p.S630fs 1.000:1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,superfamily_DNA-bd_dom_put,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP2 HGNC ENSG00000184792 75 0 0 74 6 7.5 TIMP3 0 genome.wustl.edu 37 22 33255323 33255324 + Frame_Shift_Ins INS - - C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 33255323 33255324 - C INS TIMP3 ENST00000266085 human ensembl 74_37 +1 known frame_shift_ins c.595_596 p.D202fs 1.000:0.990 NULL pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain - no_errors TIMP3 HGNC ENSG00000100234 45 0 0 46 9 16.3636 CDC42EP1 0 genome.wustl.edu 37 22 37962638 37962639 + Frame_Shift_Ins INS - - C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 37962638 37962639 - C INS CDC42EP1 ENST00000249014 human ensembl 74_37 +1 known frame_shift_ins c.282_283 p.R96fs 0.000:0.001 NULL pfam_CRIB_dom,smart_CRIB_dom,pfscan_CRIB_dom - no_errors CDC42EP1 HGNC ENSG00000128283 64 0 0 66 15 18.5185 FAM83F 0 genome.wustl.edu 37 22 40417800 40417800 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 40417800 40417800 G - DEL FAM83F ENST00000333407 human ensembl 74_37 +1 known frame_shift_del c.1286 p.E431fs 0.181 NULL pfam_DUF1669 - no_errors FAM83F HGNC ENSG00000133477 62 0 0 58 17 22.6667 EFCAB6 0 genome.wustl.edu 37 22 43924634 43924634 + RNA DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 43924634 43924634 T - DEL EFCAB6 ENST00000461800 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EFCAB6 HGNC ENSG00000186976 38 0 0 22 7 24.1379 PLXNB2 0 genome.wustl.edu 37 22 50728019 50728019 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 50728019 50728019 G - DEL PLXNB2 ENST00000359337 human ensembl 74_37 -1 known frame_shift_del c.995 p.T332fs 0.051 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB2 HGNC ENSG00000196576 106 0 0 67 14 17.284 ARSA 0 genome.wustl.edu 37 22 51065640 51065641 + Frame_Shift_Ins INS - - G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 51065640 51065641 - G INS ARSA ENST00000216124 human ensembl 74_37 -1 known frame_shift_ins c.419_418 p.H140fs 0.984:0.982 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSA HGNC ENSG00000100299 43 0 0 25 11 30.5556 RPL23AP82 0 genome.wustl.edu 37 22 51237600 51237600 + RNA DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 22 51237600 51237600 A - DEL RPL23AP82 ENST00000462238 human ensembl 74_37 +1 known rna NULL NULL 0.477 - - - no_errors AC002055.4 Clone_based_vega_gene ENSG00000184319 136 0 0 99 6 5.71429 ABTB1 0 genome.wustl.edu 37 3 127396115 127396115 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 127396115 127396115 C - DEL ABTB1 ENST00000232744 human ensembl 74_37 +1 known frame_shift_del c.748 p.E252fs 1.000 NULL pfam_BTB_POZ,pfam_Ankyrin_rpt,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 - no_errors ABTB1 HGNC ENSG00000114626 14 0 0 6 6 50 SLCO2A1 0 genome.wustl.edu 37 3 133670083 133670083 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 133670083 133670083 A - DEL SLCO2A1 ENST00000310926 human ensembl 74_37 -1 known frame_shift_del c.830 p.F277fs 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO2A1 HGNC ENSG00000174640 155 0 0 54 24 30.7692 PIK3CB 0 genome.wustl.edu 37 3 138431111 138431111 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 138431111 138431111 A - DEL PIK3CB ENST00000289153 human ensembl 74_37 -1 known frame_shift_del c.1338 p.F446fs 1.000 pfam_PI3K_C2_dom,superfamily_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,superfamily_ARM-type_fold,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 PIK3CB HGNC ENSG00000051382 67 0 0 31 10 24.3902 RASA2 0 genome.wustl.edu 37 3 141326548 141326548 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 141326548 141326548 A - DEL RASA2 ENST00000452898 human ensembl 74_37 +1 known frame_shift_del c.1965 p.N657fs 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RasGAP,pfam_C2_dom,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA2 HGNC ENSG00000155903 57 0 0 28 7 20 GK5 0 genome.wustl.edu 37 3 141923492 141923492 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 141923492 141923492 A - DEL GK5 ENST00000487672 human ensembl 74_37 -1 known frame_shift_del c.456 p.L153fs 0.000 NULL pfam_Carb_kinase_FGGY_N - no_errors GK5 HGNC ENSG00000175066 66 0 0 18 13 41.9355 PLCH1 0 genome.wustl.edu 37 3 155198938 155198938 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 155198938 155198938 T - DEL PLCH1 ENST00000340059 human ensembl 74_37 -1 known frame_shift_del c.4901 p.Y1634fs 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 107 0 0 65 6 8.4507 NCEH1 0 genome.wustl.edu 37 3 172365826 172365826 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 172365826 172365826 T - DEL NCEH1 ENST00000538775 human ensembl 74_37 -1 known frame_shift_del c.313 p.S105fs 0.989 pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase - no_errors NCEH1 HGNC ENSG00000144959 127 1 0.78125 43 24 35.8209 TTC14 0 genome.wustl.edu 37 3 180320724 180320725 + Frame_Shift_Ins INS - - A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 180320724 180320725 - A INS TTC14 ENST00000296015 human ensembl 74_37 +1 known frame_shift_ins c.207_208 p.A71fs 1.000:1.000 NULL pfam_TPR_1,superfamily_NA-bd_OB-fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors TTC14 HGNC ENSG00000163728 61 0 0 27 12 30.7692 B3GNT5 0 genome.wustl.edu 37 3 182987793 182987793 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 182987793 182987793 G - DEL B3GNT5 ENST00000326505 human ensembl 74_37 +1 known frame_shift_del c.207 p.P71fs 0.000 NULL pfam_Glyco_trans_31,superfamily_Luciferase-like_dom - no_errors B3GNT5 HGNC ENSG00000176597 172 0 0 69 30 30.303 HMGB1P5 0 genome.wustl.edu 37 3 22423967 22423968 + RNA INS - - T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 22423967 22423968 - T INS HMGB1P5 ENST00000451497 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors HMGB1P5 HGNC ENSG00000132967 59 0 0 29 12 29.2683 LRRFIP2 0 genome.wustl.edu 37 3 37114286 37114286 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 37114286 37114286 T - DEL LRRFIP2 ENST00000336686 human ensembl 74_37 -1 known frame_shift_del c.1459 p.I487fs 1.000 pfam_Leu-rich_rep_flightless-int_pr,superfamily_bHLH_dom pfam_Leu-rich_rep_flightless-int_pr,superfamily_bHLH_dom,superfamily_Prefoldin - no_errors LRRFIP2 HGNC ENSG00000093167 95 0 0 40 13 24.5283 NBEAL2 0 genome.wustl.edu 37 3 47046463 47046464 + Frame_Shift_Ins INS - - C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 47046463 47046464 - C INS NBEAL2 ENST00000450053 human ensembl 74_37 +1 known frame_shift_ins c.6296_6297 p.W2101fs 1.000:1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom 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 NBEAL2 HGNC ENSG00000160796 20 0 0 8 4 33.3333 COL7A1 0 genome.wustl.edu 37 3 48612878 48612878 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 48612878 48612878 C - DEL COL7A1 ENST00000328333 human ensembl 74_37 -1 known frame_shift_del c.6074 p.G2025fs 1.000 pfam_Collagen pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 29 0 0 21 3 12.5 CACNA2D2 0 genome.wustl.edu 37 3 50404836 50404836 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 50404836 50404836 G - DEL CACNA2D2 ENST00000435965 human ensembl 74_37 -1 known frame_shift_del c.2411 p.P804fs 1.000 NULL pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D2 HGNC ENSG00000007402 49 0 0 37 8 17.7778 RAD54L2 0 genome.wustl.edu 37 3 51696643 51696644 + Frame_Shift_Ins INS - - C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 51696643 51696644 - C INS RAD54L2 ENST00000409535 human ensembl 74_37 +1 known frame_shift_ins c.3611_3612 p.A1207fs 1.000:0.986 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC ENSG00000164080 101 0 0 34 14 29.1667 ENSG00000244513 0 genome.wustl.edu 37 3 69079174 69079174 + RNA DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 3 69079174 69079174 A - DEL ENSG00000244513 ENST00000597366 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2013N24.2 Clone_based_vega_gene ENSG00000244513 47 0 0 19 11 36.6667 CFI 0 genome.wustl.edu 37 4 110667481 110667481 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 110667481 110667481 T - DEL CFI ENST00000394634 human ensembl 74_37 -1 known frame_shift_del c.1326 p.D443fs 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_FacI_MAC,smart_Srcr_rcpt-rel,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_LDrepeatLR_classA_rpt,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors CFI HGNC ENSG00000205403 88 0 0 37 16 30.1887 SYNPO2 0 genome.wustl.edu 37 4 119810241 119810241 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 119810241 119810241 G - DEL SYNPO2 ENST00000307142 human ensembl 74_37 +1 known frame_shift_del c.50 p.F19fs 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2 HGNC ENSG00000172403 198 0 0 52 21 28.7671 BOD1L1 0 genome.wustl.edu 37 4 13584277 13584277 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 13584277 13584277 T - DEL BOD1L1 ENST00000040738 human ensembl 74_37 -1 known frame_shift_del c.8517 p.D2840fs 0.998 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 52 0 0 13 5 27.7778 ZNF330 0 genome.wustl.edu 37 4 142143532 142143532 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 142143532 142143532 A - DEL ZNF330 ENST00000262990 human ensembl 74_37 +1 known frame_shift_del c.7 p.K5fs 1.000 pfam_NOA36 pfam_NOA36 - no_errors ZNF330 HGNC ENSG00000109445 56 0 0 19 10 34.4828 CC2D2A 0 genome.wustl.edu 37 4 15601258 15601259 + Frame_Shift_Ins INS - - A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 15601258 15601259 - A INS CC2D2A ENST00000413206 human ensembl 74_37 +1 known frame_shift_ins c.4603_4604 p.S1537fs 1.000:0.997 NULL superfamily_C2_dom,smart_C2_dom - no_errors CC2D2A HGNC ENSG00000048342 43 0 0 27 8 22.8571 BST1 0 genome.wustl.edu 37 4 15717330 15717330 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 4 15717330 15717330 T - DEL BST1 ENST00000265016 human ensembl 74_37 +1 known frame_shift_del c.612 p.F206fs 0.599 pfam_ADP-ribosyl_cyclase pfam_ADP-ribosyl_cyclase - no_errors BST1 HGNC ENSG00000109743 50 0 0 18 11 37.931 MARCH6 0 genome.wustl.edu 37 5 10415634 10415634 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 10415634 10415634 G - DEL MARCH6 ENST00000274140 human ensembl 74_37 +1 known frame_shift_del c.2001 p.T669fs 0.998 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH6 HGNC ENSG00000145495 200 0 0 133 20 13.0719 APC 0 genome.wustl.edu 37 5 112175650 112175651 + Frame_Shift_Ins INS - - A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 112175650 112175651 - A INS APC ENST00000257430 human ensembl 74_37 +1 known frame_shift_ins c.4359_4360 p.N1454fs 0.426:0.983 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 99 0 0 24 41 63.0769 MCC 0 genome.wustl.edu 37 5 112403778 112403779 + Frame_Shift_Ins INS - - G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 112403778 112403779 - G INS MCC ENST00000302475 human ensembl 74_37 -1 known frame_shift_ins c.1458_1457 p.G487fs 0.995:0.997 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm - no_errors MCC HGNC ENSG00000171444 110 0 0 51 12 19.0476 NME5 0 genome.wustl.edu 37 5 137451361 137451362 + RNA INS - - T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 137451361 137451362 - T INS NME5 ENST00000514481 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors NME5 HGNC ENSG00000112981 60 0 0 47 9 16.0714 PCDHGA2 0 genome.wustl.edu 37 5 140720904 140720905 + Frame_Shift_Ins INS - - T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 140720904 140720905 - T INS PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known frame_shift_ins c.2366_2367 p.L791fs 0.042:0.033 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 196 0 0 140 13 8.49673 PCDHGC3 0 genome.wustl.edu 37 5 140857132 140857132 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 140857132 140857132 C - DEL PCDHGC3 ENST00000308177 human ensembl 74_37 +1 known frame_shift_del c.1449 p.D485fs 0.989 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC3 HGNC ENSG00000240184 327 0 0 173 44 20.2765 PCDH12 0 genome.wustl.edu 37 5 141336951 141336951 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 141336951 141336951 G - DEL PCDH12 ENST00000231484 human ensembl 74_37 -1 known frame_shift_del c.466 p.L156fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 182 0 0 87 34 28.0992 TRIO 0 genome.wustl.edu 37 5 14477004 14477004 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 14477004 14477004 T - DEL TRIO ENST00000344204 human ensembl 74_37 +1 known frame_shift_del c.6085 p.L2031fs 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 51 0 0 30 4 11.7647 TIGD6 0 genome.wustl.edu 37 5 149375358 149375358 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 149375358 149375358 A - DEL TIGD6 ENST00000296736 human ensembl 74_37 -1 known frame_shift_del c.554 p.F185fs 0.998 pfam_DDE_SF_endonuclease_CENPB-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD6 HGNC ENSG00000164296 213 1 0.46729 113 32 22.069 ZNF300 0 genome.wustl.edu 37 5 150275714 150275716 + In_Frame_Del DEL AGA AGA - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 150275714 150275716 AGA - DEL ZNF300 ENST00000446148 human ensembl 74_37 -1 known in_frame_del c.1135_1133 p.F378in_frame_del 0.980:0.989:1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF300 HGNC ENSG00000145908 99 0 0 61 12 16.4384 STC2 0 genome.wustl.edu 37 5 172745090 172745090 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 172745090 172745090 G - DEL STC2 ENST00000265087 human ensembl 74_37 -1 known frame_shift_del c.669 p.E224fs 0.000 NULL pfam_Stanniocalcin - no_errors STC2 HGNC ENSG00000113739 98 0 0 85 11 11.4583 NOP16 0 genome.wustl.edu 37 5 175811294 175811294 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 175811294 175811294 A - DEL NOP16 ENST00000389158 human ensembl 74_37 -1 known frame_shift_del c.475 p.Y159fs 1.000 NULL pfam_Ribosome_biogenesis_Nop16 - no_errors NOP16 HGNC ENSG00000048162 101 0 0 107 16 13.0081 CDHR2 0 genome.wustl.edu 37 5 176002392 176002392 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 176002392 176002392 T - DEL CDHR2 ENST00000261944 human ensembl 74_37 +1 known frame_shift_del c.733 p.Y246fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 88 0 0 123 8 6.10687 NSD1 0 genome.wustl.edu 37 5 176721713 176721713 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 176721713 176721713 A - DEL NSD1 ENST00000439151 human ensembl 74_37 +1 known frame_shift_del c.7344 p.N2450fs 0.986 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 64 0 0 76 10 11.6279 TRIM7 0 genome.wustl.edu 37 5 180630519 180630519 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 180630519 180630519 G - DEL TRIM7 ENST00000334421 human ensembl 74_37 -1 known frame_shift_del c.644 p.P215fs 0.002 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Znf_B-box_chordata - no_errors TRIM7 HGNC ENSG00000146054 183 0 0 144 20 12.1951 ISL1 0 genome.wustl.edu 37 5 50679529 50679529 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 50679529 50679529 A - DEL ISL1 ENST00000230658 human ensembl 74_37 +1 known frame_shift_del c.24 p.K11fs 1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors ISL1 HGNC ENSG00000016082 97 0 0 33 14 29.7872 FASTKD3 0 genome.wustl.edu 37 5 7867769 7867769 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 5 7867769 7867769 T - DEL FASTKD3 ENST00000264669 human ensembl 74_37 -1 known frame_shift_del c.428 p.K143fs 0.000 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD3 HGNC ENSG00000124279 119 0 0 61 12 16.4384 CDC40 0 genome.wustl.edu 37 6 110550119 110550119 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 110550119 110550119 T - DEL CDC40 ENST00000307731 human ensembl 74_37 +1 known frame_shift_del c.1502 p.F502fs 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC40 HGNC ENSG00000168438 51 0 0 25 13 34.2105 WISP3 0 genome.wustl.edu 37 6 112389434 112389434 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 112389434 112389434 A - DEL WISP3 ENST00000361714 human ensembl 74_37 +1 known frame_shift_del c.670 p.K226fs 1.000 superfamily_Thrombospondin_1_rpt,pirsf_IGFBP_CNN,pfscan_Thrombospondin_1_rpt pfam_IGFBP-like,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt - no_errors WISP3 HGNC ENSG00000112761 54 0 0 27 7 20.5882 LAMA4 0 genome.wustl.edu 37 6 112462098 112462098 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 112462098 112462098 A - DEL LAMA4 ENST00000230538 human ensembl 74_37 -1 known frame_shift_del c.2840 p.L947fs 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 128 0 0 65 16 19.7531 GRM1 0 genome.wustl.edu 37 6 146350672 146350672 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 146350672 146350672 T - DEL GRM1 ENST00000282753 human ensembl 74_37 +1 known frame_shift_del c.19 p.F9fs 0.003 prints_GPCR_3_mtglu_rcpt_1 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 381 1 0.26178 149 60 28.7081 MTRF1L 0 genome.wustl.edu 37 6 153319770 153319770 + RNA DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 153319770 153319770 A - DEL MTRF1L ENST00000485283 human ensembl 74_37 -1 known rna NULL NULL 0.014 - - - no_errors MTRF1L HGNC ENSG00000112031 27 0 0 11 7 38.8889 WTAP 0 genome.wustl.edu 37 6 160163106 160163106 + RNA DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 160163106 160163106 T - DEL WTAP ENST00000462110 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors WTAP HGNC ENSG00000146457 53 0 0 17 13 43.3333 PDE10A 0 genome.wustl.edu 37 6 165806196 165806196 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 165806196 165806196 G - DEL PDE10A ENST00000539869 human ensembl 74_37 -1 known frame_shift_del c.1595 p.T532fs 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC ENSG00000112541 144 0 0 27 43 61.4286 TBP 0 genome.wustl.edu 37 6 170871014 170871016 + In_Frame_Del DEL CAG CAG - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 170871014 170871016 CAG - DEL TBP ENST00000230354 human ensembl 74_37 +1 known in_frame_del c.190_192 p.Q67in_frame_del 0.999:1.000:1.000 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 99 0 0 49 8 14.0351 TDP2 0 genome.wustl.edu 37 6 24653291 24653291 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 24653291 24653291 T - DEL TDP2 ENST00000545995 human ensembl 74_37 -1 known frame_shift_del c.817 p.M273fs 0.052 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,superfamily_UBA-like - no_errors TDP2 HGNC ENSG00000111802 321 0 0 145 59 28.9216 GPX5 0 genome.wustl.edu 37 6 28502011 28502011 + RNA DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 28502011 28502011 A - DEL GPX5 ENST00000442674 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GPX5 HGNC ENSG00000224586 16 0 0 7 3 30 TNXB 0 genome.wustl.edu 37 6 32049424 32049424 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 32049424 32049424 G - DEL TNXB ENST00000375247 human ensembl 74_37 -1 known frame_shift_del c.3763 p.R1255fs 0.009 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 20 0 0 7 2 22.2222 GPSM3 0 genome.wustl.edu 37 6 32160020 32160020 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 32160020 32160020 G - DEL GPSM3 ENST00000375040 human ensembl 74_37 -1 known frame_shift_del c.50 p.P17fs 0.086 NULL pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif - no_errors GPSM3 HGNC ENSG00000213654 64 0 0 25 9 26.4706 PPP1R2P1 0 genome.wustl.edu 37 6 32847201 32847201 + RNA DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 32847201 32847201 T - DEL PPP1R2P1 ENST00000420261 human ensembl 74_37 -1 known rna NULL NULL 0.991 - - - no_errors PPP1R2P1 HGNC ENSG00000234515 20 0 0 7 8 53.3333 TBC1D22B 0 genome.wustl.edu 37 6 37250059 37250059 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 37250059 37250059 G - DEL TBC1D22B ENST00000373491 human ensembl 74_37 +1 known frame_shift_del c.520 p.A175fs 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22B HGNC ENSG00000065491 114 0 0 40 11 21.5686 PKHD1 0 genome.wustl.edu 37 6 51930802 51930802 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 51930802 51930802 A - DEL PKHD1 ENST00000371117 human ensembl 74_37 -1 known frame_shift_del c.852 p.F284fs 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 95 0 0 39 11 22 COL9A1 0 genome.wustl.edu 37 6 70991121 70991121 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 70991121 70991121 G - DEL COL9A1 ENST00000357250 human ensembl 74_37 -1 known frame_shift_del c.848 p.P283fs 1.000 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 59 0 0 17 10 37.037 KIAA1009 0 genome.wustl.edu 37 6 84896232 84896233 + Frame_Shift_Ins INS - - A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 84896232 84896233 - A INS KIAA1009 ENST00000403245 human ensembl 74_37 -1 known frame_shift_ins c.1219_1218 p.D406fs 0.000:0.000 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 173 0 0 94 25 21.0084 MDN1 0 genome.wustl.edu 37 6 90450058 90450058 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 90450058 90450058 T - DEL MDN1 ENST00000369393 human ensembl 74_37 -1 known frame_shift_del c.4488 p.G1497fs 0.996 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 112 0 0 73 18 19.7802 UFL1 0 genome.wustl.edu 37 6 96996089 96996089 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 6 96996089 96996089 T - DEL UFL1 ENST00000369278 human ensembl 74_37 +1 known frame_shift_del c.1452 p.L486fs 0.953 NULL pfam_E3_UFM1_ligase_1 - no_errors UFL1 HGNC ENSG00000014123 50 0 0 22 11 33.3333 C7orf49 0 genome.wustl.edu 37 7 134851448 134851448 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 134851448 134851448 C - DEL C7orf49 ENST00000393114 human ensembl 74_37 -1 known frame_shift_del c.389 p.G130fs 0.000 NULL NULL - no_errors C7orf49 HGNC ENSG00000122783 170 1 0.584795 90 10 10 AGAP3 0 genome.wustl.edu 37 7 150783996 150783997 + Frame_Shift_Ins INS - - C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 150783996 150783997 - C INS AGAP3 ENST00000397238 human ensembl 74_37 +1 known frame_shift_ins c.168_169 p.Q58fs 0.998:0.999 NULL pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP3 HGNC ENSG00000133612 51 0 0 9 4 30.7692 CCDC126 0 genome.wustl.edu 37 7 23650855 23650855 + RNA DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 23650855 23650855 T - DEL CCDC126 ENST00000486109 human ensembl 74_37 +1 putative rna NULL NULL 0.020 - - - no_errors CCDC126 HGNC ENSG00000169193 33 0 0 9 11 55 HOXA1 0 genome.wustl.edu 37 7 27135316 27135317 + In_Frame_Ins INS - - TGG TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 27135316 27135317 - TGG INS HOXA1 ENST00000343060 human ensembl 74_37 -1 known in_frame_ins c.216_215 p.73in_frame_insH 0.985:0.997 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXA1 HGNC ENSG00000105991 71 0 0 42 4 8.69565 AEBP1 0 genome.wustl.edu 37 7 44144431 44144431 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 44144431 44144431 C - DEL AEBP1 ENST00000223357 human ensembl 74_37 +1 known frame_shift_del c.167 p.P57fs 0.926 NULL pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 22 0 0 14 3 17.6471 ZMIZ2 0 genome.wustl.edu 37 7 44799789 44799789 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 44799789 44799789 G - DEL ZMIZ2 ENST00000309315 human ensembl 74_37 +1 known frame_shift_del c.1033 p.G346fs 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ2 HGNC ENSG00000122515 99 0 0 47 18 27.6923 PMS2 0 genome.wustl.edu 37 7 6027156 6027157 + Frame_Shift_Ins INS - - T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 6027156 6027157 - T INS PMS2 ENST00000265849 human ensembl 74_37 -1 known frame_shift_ins c.1240_1239 p.D413fs 0.008:0.017 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N - no_errors PMS2 HGNC ENSG00000122512 102 0 0 54 14 20.5882 MIOS 0 genome.wustl.edu 37 7 7645614 7645614 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 7645614 7645614 A - DEL MIOS ENST00000340080 human ensembl 74_37 +1 known frame_shift_del c.2443 p.K816fs 1.000 NULL smart_WD40_repeat - no_errors MIOS HGNC ENSG00000164654 124 0 0 89 6 6.31579 CACNA2D1 0 genome.wustl.edu 37 7 81598291 81598292 + Splice_Site INS - - A TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 81598291 81598292 - A INS CACNA2D1 ENST00000356253 human ensembl 74_37 -1 known splice_site_ins c.2345-3_2345-2 e29-2 0.999:0.033 - - - no_errors CACNA2D1 HGNC ENSG00000153956 121 0 0 142 19 11.8012 KIAA1324L 0 genome.wustl.edu 37 7 86556159 86556159 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 86556159 86556159 G - DEL KIAA1324L ENST00000450689 human ensembl 74_37 -1 known frame_shift_del c.1163 p.P388fs 1.000 superfamily_Growth_fac_rcpt_N_dom superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324L HGNC ENSG00000164659 247 0 0 246 24 8.88889 DMTF1 0 genome.wustl.edu 37 7 86813734 86813735 + Frame_Shift_Del DEL AA AA - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 86813734 86813735 AA - DEL DMTF1 ENST00000331242 human ensembl 74_37 +1 known frame_shift_del c.842_843 p.K282fs 1.000:1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors DMTF1 HGNC ENSG00000135164 59 0 0 67 6 8.21918 CROT 0 genome.wustl.edu 37 7 87011774 87011774 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 87011774 87011774 A - DEL CROT ENST00000331536 human ensembl 74_37 +1 known frame_shift_del c.1216 p.K407fs 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CROT HGNC ENSG00000005469 102 0 0 93 23 19.8276 ABCB1 0 genome.wustl.edu 37 7 87165829 87165829 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 87165829 87165829 T - DEL ABCB1 ENST00000265724 human ensembl 74_37 -1 known frame_shift_del c.2426 p.N809fs 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 98 0 0 108 13 10.7438 ADAM22 0 genome.wustl.edu 37 7 87760744 87760744 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 87760744 87760744 T - DEL ADAM22 ENST00000265727 human ensembl 74_37 +1 known frame_shift_del c.986 p.S331fs 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 99 0 0 98 13 11.7117 ADAM22 0 genome.wustl.edu 37 7 87810888 87810888 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 87810888 87810888 A - DEL ADAM22 ENST00000265727 human ensembl 74_37 +1 known frame_shift_del c.2477 p.N827fs 1.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 110 0 0 115 14 10.8527 AKAP9 0 genome.wustl.edu 37 7 91732038 91732039 + Frame_Shift_Ins INS - - G TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 91732038 91732039 - G INS AKAP9 ENST00000359028 human ensembl 74_37 +1 known frame_shift_ins c.11240_11241 p.Q3750fs 1.000:1.000 pfam_PACT_domain pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 314 0 0 909 60 6.19195 GPC2 0 genome.wustl.edu 37 7 99771469 99771469 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 7 99771469 99771469 C - DEL GPC2 ENST00000292377 human ensembl 74_37 -1 known frame_shift_del c.881 p.G294fs 1.000 pfam_Glypican pfam_Glypican - no_errors GPC2 HGNC ENSG00000213420 690 0 0 270 71 20.8211 VPS13B 0 genome.wustl.edu 37 8 100050671 100050671 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 100050671 100050671 T - DEL VPS13B ENST00000358544 human ensembl 74_37 +1 known frame_shift_del c.168 p.L58fs 0.024 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 38 0 0 25 9 26.4706 UBR5 0 genome.wustl.edu 37 8 103289348 103289349 + Frame_Shift_Ins INS - - T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 103289348 103289349 - T INS UBR5 ENST00000520539 human ensembl 74_37 -1 known frame_shift_ins c.6361_6360 p.E2120fs 1.000:0.987 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 163 0 0 132 15 10.2041 FZD6 0 genome.wustl.edu 37 8 104337204 104337204 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 104337204 104337204 T - DEL FZD6 ENST00000358755 human ensembl 74_37 +1 known frame_shift_del c.870 p.F292fs 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD6 HGNC ENSG00000164930 92 0 0 71 17 19.3182 DCAF13 0 genome.wustl.edu 37 8 104439487 104439487 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 104439487 104439487 T - DEL DCAF13 ENST00000519682 human ensembl 74_37 +1 putative frame_shift_del c.619 p.F209fs 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 41 0 0 29 9 23.6842 ZFPM2 0 genome.wustl.edu 37 8 106573666 106573666 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 106573666 106573666 G - DEL ZFPM2 ENST00000407775 human ensembl 74_37 +1 known frame_shift_del c.377 p.P128fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 77 0 0 62 6 8.82353 SLC45A4 0 genome.wustl.edu 37 8 142222546 142222546 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 142222546 142222546 C - DEL SLC45A4 ENST00000517878 human ensembl 74_37 -1 known frame_shift_del c.2051 p.G684fs 0.080 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 125 0 0 64 12 15.7895 ZC3H3 0 genome.wustl.edu 37 8 144620691 144620691 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 144620691 144620691 G - DEL ZC3H3 ENST00000262577 human ensembl 74_37 -1 known frame_shift_del c.846 p.A283fs 0.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ENSG00000014164 230 0 0 131 10 7.0922 MAK16 0 genome.wustl.edu 37 8 33354235 33354236 + In_Frame_Ins INS - - GAT TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 33354235 33354236 - GAT INS MAK16 ENST00000360128 human ensembl 74_37 +1 known in_frame_ins c.615_616 p.209in_frame_insD 1.000:1.000 pfam_Mak16,pirsf_Mak16 pfam_Mak16,pirsf_Mak16 - no_errors MAK16 HGNC ENSG00000198042 43 0 0 14 4 22.2222 WHSC1L1 0 genome.wustl.edu 37 8 38205092 38205092 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 38205092 38205092 T - DEL WHSC1L1 ENST00000317025 human ensembl 74_37 -1 known frame_shift_del c.598 p.S200fs 1.000 NULL pfam_PWWP_dom,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors WHSC1L1 HGNC ENSG00000147548 192 1 0.518135 105 39 27.0833 IKBKB 0 genome.wustl.edu 37 8 42179452 42179452 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 42179452 42179452 A - DEL IKBKB ENST00000520810 human ensembl 74_37 +1 known frame_shift_del c.1727 p.K577fs 0.997 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ubiquitin_supergroup,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors IKBKB HGNC ENSG00000104365 107 0 0 18 16 47.0588 YTHDF3 0 genome.wustl.edu 37 8 64098976 64098976 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 64098976 64098976 G - DEL YTHDF3 ENST00000539294 human ensembl 74_37 +1 known frame_shift_del c.404 p.T137fs 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF3 HGNC ENSG00000185728 75 0 0 100 6 5.66038 SGK3 0 genome.wustl.edu 37 8 67716612 67716612 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 67716612 67716612 A - DEL SGK3 ENST00000345714 human ensembl 74_37 +1 known frame_shift_del c.183 p.K63fs 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Phox,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Phox,pfscan_Prot_kinase_dom - no_errors SGK3 HGNC ENSG00000104205 81 0 0 83 9 9.78261 PREX2 0 genome.wustl.edu 37 8 68992720 68992721 + Frame_Shift_Ins INS - - T TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 68992720 68992721 - T INS PREX2 ENST00000288368 human ensembl 74_37 +1 known frame_shift_ins c.1685_1686 p.S565fs 1.000:0.015 smart_DEP_dom,pfscan_DEP_dom pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 83 0 0 86 10 10.4167 CA1 0 genome.wustl.edu 37 8 86250523 86250524 + Frame_Shift_Ins INS - - C TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 8 86250523 86250524 - C INS CA1 ENST00000256119 human ensembl 74_37 -1 known frame_shift_ins c.193_192 p.H64fs 1.000:0.842 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA1 HGNC ENSG00000133742 408 0 0 357 61 14.5933 ZFP37 0 genome.wustl.edu 37 9 115806416 115806416 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 115806416 115806416 T - DEL ZFP37 ENST00000553380 human ensembl 74_37 -1 known frame_shift_del c.527 p.N176fs 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP37 HGNC ENSG00000136866 109 0 0 83 25 23.1481 ANGPTL2 0 genome.wustl.edu 37 9 129870357 129870357 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 129870357 129870357 G - DEL ANGPTL2 ENST00000373425 human ensembl 74_37 -1 known frame_shift_del c.654 p.A219fs 0.307 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL2 HGNC ENSG00000136859 55 0 0 37 5 11.9048 PRRC2B 0 genome.wustl.edu 37 9 134351425 134351425 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 134351425 134351425 C - DEL PRRC2B ENST00000357304 human ensembl 74_37 +1 known frame_shift_del c.3909 p.P1305fs 0.911 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 213 0 0 196 20 9.25926 MAMDC4 0 genome.wustl.edu 37 9 139752000 139752000 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 139752000 139752000 G - DEL MAMDC4 ENST00000445819 human ensembl 74_37 +1 known frame_shift_del c.2525 p.G843fs 0.290 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt - no_errors MAMDC4 HGNC ENSG00000177943 137 0 0 118 17 12.5926 MLLT3 0 genome.wustl.edu 37 9 20622295 20622295 + RNA DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 20622295 20622295 C - DEL MLLT3 ENST00000475957 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MLLT3 HGNC ENSG00000171843 41 0 0 14 3 17.6471 MELK 0 genome.wustl.edu 37 9 36583695 36583695 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 36583695 36583695 A - DEL MELK ENST00000298048 human ensembl 74_37 +1 known frame_shift_del c.130 p.N45fs 1.000 pfam_Prot_kinase_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_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MELK HGNC ENSG00000165304 68 0 0 23 7 23.3333 IARS 0 genome.wustl.edu 37 9 95003101 95003101 + RNA DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 95003101 95003101 A - DEL IARS ENST00000473915 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors IARS HGNC ENSG00000196305 25 0 0 12 10 45.4545 ERCC6L2 0 genome.wustl.edu 37 9 98775343 98775343 + Frame_Shift_Del DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 9 98775343 98775343 A - DEL ERCC6L2 ENST00000407474 human ensembl 74_37 +1 known frame_shift_del c.1454 p.A487fs 0.999 NULL NULL - no_errors ERCC6L2 HGNC ENSG00000182150 59 0 0 56 11 16.4179 ATG4A 0 genome.wustl.edu 37 X 107395166 107395166 + RNA DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 107395166 107395166 A - DEL ATG4A ENST00000474825 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors ATG4A HGNC ENSG00000101844 21 0 0 17 7 29.1667 MAGEC1 0 genome.wustl.edu 37 X 140994501 140994501 + Frame_Shift_Del DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 140994501 140994501 T - DEL MAGEC1 ENST00000285879 human ensembl 74_37 +1 known frame_shift_del c.1311 p.Q440fs 0.011 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 171 0 0 174 10 5.43478 SPANXN2 0 genome.wustl.edu 37 X 142795143 142795143 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 142795143 142795143 C - DEL SPANXN2 ENST00000370498 human ensembl 74_37 -1 known frame_shift_del c.535 p.E179fs 0.014 NULL pfam_SPANX_prot - no_errors SPANXN2 HGNC ENSG00000203924 193 1 0.515464 122 75 38.0711 SH3KBP1 0 genome.wustl.edu 37 X 19560215 19560215 + Frame_Shift_Del DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 19560215 19560215 G - DEL SH3KBP1 ENST00000397821 human ensembl 74_37 -1 known frame_shift_del c.1720 p.L574fs 0.002 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 88 0 0 53 22 29.3333 DMD 0 genome.wustl.edu 37 X 33146232 33146232 + RNA DEL G G - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 33146232 33146232 G - DEL DMD ENST00000472266 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors DMD HGNC ENSG00000198947 13 0 0 16 3 15.7895 USP9X 0 genome.wustl.edu 37 X 40982957 40982957 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 40982957 40982957 C - DEL USP9X ENST00000324545 human ensembl 74_37 +1 known frame_shift_del c.76 p.L28fs 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP9X HGNC ENSG00000124486 36 0 0 28 11 28.2051 TFE3 0 genome.wustl.edu 37 X 48887952 48887952 + Frame_Shift_Del DEL C C - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 48887952 48887952 C - DEL TFE3 ENST00000315869 human ensembl 74_37 -1 known frame_shift_del c.1445 p.G482fs 0.037 pfam_bHLH_ZIP_TF_MiT/TFE pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFE3 HGNC ENSG00000068323 125 1 0.793651 58 30 34.0909 MAP2K4P1 0 genome.wustl.edu 37 X 72744763 72744763 + RNA DEL T T - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 72744763 72744763 T - DEL MAP2K4P1 ENST00000602584 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors MAP2K4P1 HGNC ENSG00000269904 17 0 0 9 2 18.1818 XIST 0 genome.wustl.edu 37 X 73071846 73071846 + RNA DEL A A - TCGA-HU-A4GU-01A-11D-A25D-08 TCGA-HU-A4GU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58dd2029-bf64-426c-be2b-cc783ca6d671 9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88 X 73071846 73071846 A - DEL XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors XIST HGNC ENSG00000229807 19 0 0 7 13 65