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 FRRS1 0 genome.wustl.edu 37 1 100195232 100195232 + Nonsense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 100195232 100195232 G A SNP FRRS1 ENST00000287474 human ensembl 74_37 -1 known nonsense c.832 p.R278* 1.000 pfam_DOMON_domain,smart_DOMON_domain,pfscan_DOMON_domain pfam_Reeler_dom,pfam_DOMON_domain,smart_DOMON_domain,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_DOMON_domain,pfscan_Reeler_dom,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors FRRS1 HGNC ENSG00000156869 45 0 0 25 5 16.6667 CASZ1 0 genome.wustl.edu 37 1 10708045 10708045 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 10708045 10708045 C T SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known missense c.3310 p.A1104T 0.056 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 43 0 0 33 9 21.4286 CELSR2 0 genome.wustl.edu 37 1 109811556 109811556 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 109811556 109811556 G A SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.6557 p.R2186H 1.000 pfam_DUF3497 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 107 0 0 97 21 17.7966 STRIP1 0 genome.wustl.edu 37 1 110586300 110586300 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 110586300 110586300 C T SNP STRIP1 ENST00000369795 human ensembl 74_37 +1 known missense c.1108 p.R370W 1.000 NULL pfam_DUF3402,pfam_N1221 - no_errors STRIP1 HGNC ENSG00000143093 40 0 0 28 13 31.7073 KCNA10 0 genome.wustl.edu 37 1 111060754 111060754 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 111060754 111060754 G A SNP KCNA10 ENST00000369771 human ensembl 74_37 -1 known missense c.656 p.A219V 1.000 prints_K_chnl,prints_K_chnl_volt-dep_Kv1 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,prints_K_chnl_volt-dep_Kv - no_errors KCNA10 HGNC ENSG00000143105 71 0 0 60 32 34.7826 EXOSC10 0 genome.wustl.edu 37 1 11151609 11151609 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 11151609 11151609 G A SNP EXOSC10 ENST00000376936 human ensembl 74_37 -1 known missense c.418 p.P140S 1.000 NULL pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_HRDC_dom,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_HRDC_dom,pfscan_HRDC_dom - no_errors EXOSC10 HGNC ENSG00000171824 92 0 0 43 12 21.8182 MOV10 0 genome.wustl.edu 37 1 113239384 113239384 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 113239384 113239384 G A SNP MOV10 ENST00000357443 human ensembl 74_37 +1 known missense c.2114 p.R705Q 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors MOV10 HGNC ENSG00000155363 15 0 0 12 7 36.8421 AP4B1 0 genome.wustl.edu 37 1 114442915 114442915 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 114442915 114442915 C A SNP AP4B1 ENST00000256658 human ensembl 74_37 -1 known missense c.725 p.S242I 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,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4 - no_errors AP4B1 HGNC ENSG00000134262 100 0 0 42 18 30 TRIM33 0 genome.wustl.edu 37 1 114969847 114969847 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 114969847 114969847 G A SNP TRIM33 ENST00000358465 human ensembl 74_37 -1 known missense c.1372 p.R458C 1.000 NULL pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain - no_errors TRIM33 HGNC ENSG00000197323 120 0 0 65 41 38.6792 IGSF3 0 genome.wustl.edu 37 1 117146584 117146584 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 117146584 117146584 C T SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known missense c.1346 p.R449H 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 66 0 0 86 6 6.52174 TRIM45 0 genome.wustl.edu 37 1 117663484 117663484 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 117663484 117663484 C T SNP TRIM45 ENST00000256649 human ensembl 74_37 -1 known missense c.340 p.D114N 1.000 NULL pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM45 HGNC ENSG00000134253 45 0 0 45 19 29.6875 FAM46C 0 genome.wustl.edu 37 1 118165698 118165698 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 118165698 118165698 C T SNP FAM46C ENST00000369448 human ensembl 74_37 +1 known missense c.208 p.R70W 1.000 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46C HGNC ENSG00000183508 98 0 0 72 42 36.8421 UBE2J2 0 genome.wustl.edu 37 1 1192466 1192466 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 1192466 1192466 G A SNP UBE2J2 ENST00000400930 human ensembl 74_37 -1 known missense c.368 p.P123L 0.999 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 UBE2J2 HGNC ENSG00000160087 126 0 0 152 8 5 WARS2 0 genome.wustl.edu 37 1 119575804 119575804 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 119575804 119575804 G A SNP WARS2 ENST00000235521 human ensembl 74_37 -1 known silent c.813 p.G271 0.242 pfam_aa-tRNA-synth_Ic,tigrfam_Trp-tRNA-ligase pfam_aa-tRNA-synth_Ic,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase - no_errors WARS2 HGNC ENSG00000116874 102 0 0 66 47 41.5929 ZNF697 0 genome.wustl.edu 37 1 120165709 120165709 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 120165709 120165709 G A SNP ZNF697 ENST00000421812 human ensembl 74_37 -1 known silent c.1257 p.S419 0.999 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF697 HGNC ENSG00000143067 13 0 0 9 6 40 NOTCH2 0 genome.wustl.edu 37 1 120471712 120471712 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 120471712 120471712 C T SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known missense c.3779 p.R1260H 0.985 pirsf_Notch,pfam_EG-like_dom,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 73 0 0 42 19 31.1475 NOTCH2 0 genome.wustl.edu 37 1 120478152 120478152 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 120478152 120478152 C A SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known missense c.3598 p.G1200C 1.000 pirsf_Notch,pfam_EG-like_dom,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 115 0 0 112 49 30.4348 AURKAIP1 0 genome.wustl.edu 37 1 1309472 1309472 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 1309472 1309472 G A SNP AURKAIP1 ENST00000321751 human ensembl 74_37 -1 known missense c.406 p.R136W 1.000 pfam_DUF1713_mit pfam_DUF1713_mit - no_errors AURKAIP1 HGNC ENSG00000175756 119 0 0 80 42 34.4262 ENSG00000223804 0 genome.wustl.edu 37 1 143744203 143744203 + RNA SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 143744203 143744203 G A SNP ENSG00000223804 ENST00000418192 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP6-206I17.1 Clone_based_vega_gene ENSG00000223804 33 0 0 37 8 17.7778 KAZN 0 genome.wustl.edu 37 1 14925519 14925519 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 14925519 14925519 C T SNP KAZN ENST00000376030 human ensembl 74_37 +1 known missense c.26 p.A9V 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors KAZN HGNC ENSG00000189337 76 0 0 49 27 35.5263 KAZN 0 genome.wustl.edu 37 1 14925623 14925623 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 14925623 14925623 G A SNP KAZN ENST00000376030 human ensembl 74_37 +1 known missense c.130 p.G44S 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors KAZN HGNC ENSG00000189337 26 0 0 18 14 43.75 HIST2H2BE 0 genome.wustl.edu 37 1 149858090 149858090 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 149858090 149858090 C T SNP HIST2H2BE ENST00000369155 human ensembl 74_37 -1 known missense c.101 p.R34H 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST2H2BE HGNC ENSG00000184678 236 0 0 253 29 10.2837 MTMR11 0 genome.wustl.edu 37 1 149903117 149903117 + RNA SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 149903117 149903117 A G SNP MTMR11 ENST00000490310 human ensembl 74_37 -1 known rna NULL NULL 0.023 - - - no_errors MTMR11 HGNC ENSG00000014914 56 0 0 38 23 37.7049 ADAMTSL4 0 genome.wustl.edu 37 1 150529506 150529506 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 150529506 150529506 C T SNP ADAMTSL4 ENST00000369039 human ensembl 74_37 +1 known missense c.1910 p.P637L 0.000 NULL 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 178 1 0.558659 121 61 33.5165 TMOD4 0 genome.wustl.edu 37 1 151143409 151143409 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 151143409 151143409 C T SNP TMOD4 ENST00000295314 human ensembl 74_37 -1 known missense c.857 p.R286H 0.998 NULL pfam_Tropomodulin - no_errors TMOD4 HGNC ENSG00000163157 34 0 0 39 11 22 POGZ 0 genome.wustl.edu 37 1 151378254 151378254 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 151378254 151378254 C T SNP POGZ ENST00000271715 human ensembl 74_37 -1 known missense c.3257 p.R1086Q 0.821 pfam_HTH_CenpB_DNA-bd_dom 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 115 0 0 55 30 35.2941 RORC 0 genome.wustl.edu 37 1 151787739 151787739 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 151787739 151787739 G A SNP RORC ENST00000392697 human ensembl 74_37 -1 known missense c.623 p.P208L 0.961 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,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,pfscan_Znf_hrmn_rcpt - no_errors RORC HGNC ENSG00000143365 56 0 0 25 19 43.1818 FLG 0 genome.wustl.edu 37 1 152281748 152281748 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 152281748 152281748 T C SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.5614 p.K1872E 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 486 0 0 353 200 36.1664 KAZN 0 genome.wustl.edu 37 1 15361377 15361377 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 15361377 15361377 G A SNP KAZN ENST00000376030 human ensembl 74_37 +1 known missense c.551 p.R184H 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors KAZN HGNC ENSG00000189337 84 0 0 77 22 22.2222 INTS3 0 genome.wustl.edu 37 1 153723704 153723704 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 153723704 153723704 C T SNP INTS3 ENST00000318967 human ensembl 74_37 +1 known missense c.718 p.L240F 1.000 NULL pfam_Int_cplx_su3 - no_errors INTS3 HGNC ENSG00000143624 74 0 0 44 13 22.807 TPM3 0 genome.wustl.edu 37 1 154145590 154145590 + Silent SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 154145590 154145590 A G SNP TPM3 ENST00000368530 human ensembl 74_37 -1 known silent c.465 p.I155 1.000 pfam_Tropomyosin,prints_Tropomyosin pfam_Tropomyosin,prints_Tropomyosin - no_errors TPM3 HGNC ENSG00000143549 112 0 0 60 20 25 THBS3 0 genome.wustl.edu 37 1 155175055 155175055 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 155175055 155175055 C T SNP THBS3 ENST00000368378 human ensembl 74_37 -1 known silent c.339 p.Q113 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G 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 64 0 0 47 23 32.8571 CLK2 0 genome.wustl.edu 37 1 155239353 155239353 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 155239353 155239353 G A SNP CLK2 ENST00000368361 human ensembl 74_37 -1 known missense c.325 p.R109C 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 CLK2 HGNC ENSG00000176444 162 0 0 163 14 7.9096 PMF1-BGLAP 0 genome.wustl.edu 37 1 156206136 156206136 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 156206136 156206136 G A SNP PMF1-BGLAP ENST00000490491 human ensembl 74_37 +1 known silent c.426 p.L142 0.998 pfam_Nnf1 pfam_Nnf1 - no_errors PMF1-BGLAP HGNC ENSG00000260238 138 0 0 89 44 33.0827 PMF1-BGLAP 0 genome.wustl.edu 37 1 156206232 156206232 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 156206232 156206232 G T SNP PMF1-BGLAP ENST00000368276 human ensembl 74_37 +1 known missense c.461 p.R154M 0.810 NULL pfam_Nnf1 - no_errors PMF1-BGLAP HGNC ENSG00000260238 43 0 0 29 10 25.641 ARHGEF11 0 genome.wustl.edu 37 1 156926334 156926334 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 156926334 156926334 T C SNP ARHGEF11 ENST00000368194 human ensembl 74_37 -1 known missense c.1549 p.N517D 1.000 pfam_RGS-like_dom,superfamily_Regulat_G_prot_signal_superfam 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 148 1 0.671141 79 54 40.6015 OR6K6 0 genome.wustl.edu 37 1 158724836 158724836 + Silent SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 158724836 158724836 C A SNP OR6K6 ENST00000368144 human ensembl 74_37 +1 known silent c.231 p.I77 0.575 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 OR6K6 HGNC ENSG00000180433 193 0 0 101 53 34.4156 CCDC19 0 genome.wustl.edu 37 1 159846512 159846512 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 159846512 159846512 C T SNP CCDC19 ENST00000368099 human ensembl 74_37 -1 known missense c.1186 p.E396K 1.000 NULL NULL - no_errors CCDC19 HGNC ENSG00000213085 55 0 0 22 25 53.1915 ATP1A4 0 genome.wustl.edu 37 1 160143949 160143949 + Missense_Mutation SNP G G C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 160143949 160143949 G C SNP ATP1A4 ENST00000368081 human ensembl 74_37 +1 known missense c.2040 p.Q680H 0.001 pfam_HAD-like_dom,superfamily_HAD-like_dom,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 ATP1A4 HGNC ENSG00000132681 76 0 0 61 4 6.15385 UFC1 0 genome.wustl.edu 37 1 161127526 161127526 + RNA SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 161127526 161127526 A G SNP UFC1 ENST00000473766 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors UFC1 HGNC ENSG00000143222 32 0 0 14 13 48.1481 PPOX 0 genome.wustl.edu 37 1 161136683 161136683 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 161136683 161136683 G A SNP PPOX ENST00000352210 human ensembl 74_37 +1 known missense c.46 p.A16T 1.000 pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase - no_errors PPOX HGNC ENSG00000143224 65 0 0 53 38 41.7582 HSPA6 0 genome.wustl.edu 37 1 161495244 161495244 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 161495244 161495244 C T SNP HSPA6 ENST00000309758 human ensembl 74_37 +1 known missense c.796 p.R266C 0.998 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA6 HGNC ENSG00000173110 20 0 0 18 18 50 CDK11A 0 genome.wustl.edu 37 1 1635564 1635564 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 1635564 1635564 G A SNP CDK11A ENST00000404249 human ensembl 74_37 -1 known missense c.1708 p.R570W 0.203 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 CDK11A HGNC ENSG00000008128 36 0 0 22 11 33.3333 CLCNKB 0 genome.wustl.edu 37 1 16375585 16375585 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 16375585 16375585 G T SNP CLCNKB ENST00000375667 human ensembl 74_37 +1 known missense c.119 p.R40M 0.000 NULL pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated - no_errors CLCNKB HGNC ENSG00000184908 109 0 0 75 6 7.40741 EPHA2 0 genome.wustl.edu 37 1 16458280 16458280 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 16458280 16458280 C T SNP EPHA2 ENST00000358432 human ensembl 74_37 -1 known missense c.2411 p.G804D 1.000 pirsf_Tyr_kinase_ephrin_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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_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,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 68 0 0 34 24 41.3793 RSG1 0 genome.wustl.edu 37 1 16559403 16559403 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 16559403 16559403 G A SNP RSG1 ENST00000375599 human ensembl 74_37 -1 known silent c.375 p.F125 0.999 pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,prints_Small_GTPase - no_errors RSG1 HGNC ENSG00000132881 127 0 0 109 41 27.3333 RCSD1 0 genome.wustl.edu 37 1 167654689 167654689 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 167654689 167654689 C T SNP RCSD1 ENST00000367854 human ensembl 74_37 +1 known missense c.140 p.P47L 1.000 NULL pfam_RCSD - no_errors RCSD1 HGNC ENSG00000198771 85 0 0 48 29 37.6623 CROCCP3 0 genome.wustl.edu 37 1 16803434 16803434 + RNA SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 16803434 16803434 C T SNP CROCCP3 ENST00000263511 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CROCCP3 HGNC ENSG00000080947 25 0 0 16 11 40.7407 GPR161 0 genome.wustl.edu 37 1 168054942 168054942 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 168054942 168054942 C T SNP GPR161 ENST00000537209 human ensembl 74_37 -1 known missense c.1477 p.E493K 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR161 HGNC ENSG00000143147 117 0 0 62 44 41.5094 CROCCP3 0 genome.wustl.edu 37 1 16810917 16810917 + RNA SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 16810917 16810917 G A SNP CROCCP3 ENST00000263511 human ensembl 74_37 -1 known rna NULL NULL 0.912 - - - no_errors CROCCP3 HGNC ENSG00000080947 12 0 0 11 9 45 KIFAP3 0 genome.wustl.edu 37 1 169923216 169923216 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 169923216 169923216 C T SNP KIFAP3 ENST00000361580 human ensembl 74_37 -1 known missense c.2209 p.D737N 0.998 NULL superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors KIFAP3 HGNC ENSG00000075945 178 0 0 100 49 32.8859 MST1L 0 genome.wustl.edu 37 1 17085016 17085016 + RNA SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 17085016 17085016 G A SNP MST1L ENST00000455405 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MST1L HGNC ENSG00000186715 208 0 0 206 18 8.03571 FMO2 0 genome.wustl.edu 37 1 171173044 171173044 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 171173044 171173044 G A SNP FMO2 ENST00000209929 human ensembl 74_37 +1 known missense c.668 p.R223H 0.998 pfam_Flavin_mOase-like pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5 - no_errors FMO2 HGNC ENSG00000094963 63 0 0 27 17 38.6364 PRRC2C 0 genome.wustl.edu 37 1 171501615 171501615 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 171501615 171501615 G A SNP PRRC2C ENST00000392078 human ensembl 74_37 +1 known missense c.1388 p.R463H 1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 32 0 0 30 13 30.2326 PRDX6 0 genome.wustl.edu 37 1 173454570 173454570 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 173454570 173454570 G A SNP PRDX6 ENST00000340385 human ensembl 74_37 +1 known missense c.323 p.R108Q 1.000 pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Peroxiredoxin_C,pfam_Redoxin,superfamily_Thioredoxin-like_fold - no_errors PRDX6 HGNC ENSG00000117592 98 0 0 47 24 33.8028 CEP350 0 genome.wustl.edu 37 1 180022186 180022186 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 180022186 180022186 G A SNP CEP350 ENST00000367607 human ensembl 74_37 +1 known missense c.4874 p.R1625Q 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 44 0 0 23 8 25.8065 KIAA1614 0 genome.wustl.edu 37 1 180904929 180904929 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 180904929 180904929 G A SNP KIAA1614 ENST00000367588 human ensembl 74_37 +1 known silent c.1884 p.A628 0.000 NULL NULL - no_errors KIAA1614 HGNC ENSG00000135835 45 0 0 40 20 33.3333 ZNF648 0 genome.wustl.edu 37 1 182026330 182026330 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 182026330 182026330 G A SNP ZNF648 ENST00000339948 human ensembl 74_37 -1 novel silent c.816 p.R272 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ENSG00000179930 10 0 0 16 9 36 ZNF648 0 genome.wustl.edu 37 1 182026596 182026596 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 182026596 182026596 C T SNP ZNF648 ENST00000339948 human ensembl 74_37 -1 novel missense c.550 p.A184T 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ENSG00000179930 44 0 0 26 21 44.6809 NCF2 0 genome.wustl.edu 37 1 183559420 183559420 + Silent SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 183559420 183559420 C A SNP NCF2 ENST00000367535 human ensembl 74_37 -1 known silent c.45 p.L15 0.864 NULL pfam_SH3_domain,pfam_SH3_2,pfam_TPR_1,pfam_OPR_PB1,superfamily_SH3_domain,smart_TPR_repeat,smart_SH3_domain,smart_OPR_PB1,pfscan_SH3_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_p67phox,prints_SH3_domain - no_errors NCF2 HGNC ENSG00000116701 103 1 0.961538 98 47 32.4138 HMCN1 0 genome.wustl.edu 37 1 185958749 185958749 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 185958749 185958749 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.3178 p.A1060T 0.996 pfam_Ig_I-set,smart_Ig_sub,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 49 0 0 32 17 34.6939 HMCN1 0 genome.wustl.edu 37 1 186114581 186114581 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 186114581 186114581 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.14313 p.R4771 0.944 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt 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 106 0 0 68 15 18.0723 HMCN1 0 genome.wustl.edu 37 1 186147634 186147634 + Nonsense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 186147634 186147634 G T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known nonsense c.16030 p.G5344* 1.000 pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-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 204 1 0.487805 143 75 34.4037 PRG4 0 genome.wustl.edu 37 1 186277217 186277217 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 186277217 186277217 C A SNP PRG4 ENST00000445192 human ensembl 74_37 +1 known missense c.2366 p.P789H 0.000 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 271 0 0 225 151 40.1596 PAX7 0 genome.wustl.edu 37 1 19027168 19027168 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 19027168 19027168 G A SNP PAX7 ENST00000375375 human ensembl 74_37 +1 known missense c.808 p.A270T 0.999 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Paired_dom,pfam_Homeobox_dom,pfam_Pax7,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX7 HGNC ENSG00000009709 110 0 0 65 17 20.7317 GABRD 0 genome.wustl.edu 37 1 1957177 1957177 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 1957177 1957177 G A SNP GABRD ENST00000378585 human ensembl 74_37 +1 known missense c.470 p.R157Q 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRD HGNC ENSG00000187730 49 0 0 34 24 41.3793 KCNT2 0 genome.wustl.edu 37 1 196392226 196392226 + Missense_Mutation SNP G G C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 196392226 196392226 G C SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.1139 p.A380G 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 23 0 0 9 4 30.7692 GPR25 0 genome.wustl.edu 37 1 200843191 200843191 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 200843191 200843191 C T SNP GPR25 ENST00000304244 human ensembl 74_37 +1 known silent c.1026 p.D342 0.101 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR25 HGNC ENSG00000170128 23 0 0 17 5 22.7273 CACNA1S 0 genome.wustl.edu 37 1 201013510 201013510 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 201013510 201013510 C A SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known missense c.4743 p.E1581D 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 65 0 0 64 34 34.6939 IPO9 0 genome.wustl.edu 37 1 201827617 201827617 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 201827617 201827617 G A SNP IPO9 ENST00000361565 human ensembl 74_37 +1 known missense c.1264 p.A422T 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO9 HGNC ENSG00000198700 215 0 0 155 81 34.322 CNTN2 0 genome.wustl.edu 37 1 205030396 205030396 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 205030396 205030396 G A SNP CNTN2 ENST00000331830 human ensembl 74_37 +1 known missense c.821 p.R274H 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,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_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN2 HGNC ENSG00000184144 52 0 0 26 15 36.5854 SLC41A1 0 genome.wustl.edu 37 1 205779576 205779576 + RNA SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 205779576 205779576 C T SNP SLC41A1 ENST00000484000 human ensembl 74_37 -1 known rna NULL NULL 0.955 - - - no_errors SLC41A1 HGNC ENSG00000133065 161 0 0 60 31 34.0659 IKBKE 0 genome.wustl.edu 37 1 206650040 206650040 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 206650040 206650040 G A SNP IKBKE ENST00000367120 human ensembl 74_37 +1 known missense c.560 p.R187Q 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 IKBKE HGNC ENSG00000143466 52 0 0 42 19 31.1475 CAMK1G 0 genome.wustl.edu 37 1 209785458 209785458 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 209785458 209785458 G A SNP CAMK1G ENST00000009105 human ensembl 74_37 +1 known missense c.1237 p.A413T 0.000 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 CAMK1G HGNC ENSG00000008118 55 0 0 67 27 28.7234 KIF17 0 genome.wustl.edu 37 1 21044071 21044071 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 21044071 21044071 G A SNP KIF17 ENST00000247986 human ensembl 74_37 -1 known silent c.129 p.G43 0.986 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF17 HGNC ENSG00000117245 67 0 0 35 28 44.4444 SH2D5 0 genome.wustl.edu 37 1 21050922 21050922 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 21050922 21050922 C T SNP SH2D5 ENST00000444387 human ensembl 74_37 -1 known silent c.597 p.R199 1.000 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_SH2 - no_errors SH2D5 HGNC ENSG00000189410 55 0 0 32 26 44.8276 PTPN14 0 genome.wustl.edu 37 1 214557451 214557451 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 214557451 214557451 C T SNP PTPN14 ENST00000366956 human ensembl 74_37 -1 known missense c.1747 p.A583T 0.997 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC ENSG00000152104 90 0 0 41 17 29.3103 HSPG2 0 genome.wustl.edu 37 1 22172952 22172952 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 22172952 22172952 T C SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.8305 p.S2769G 0.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 147 0 0 94 50 34.7222 C1orf145 0 genome.wustl.edu 37 1 228400402 228400402 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 228400402 228400402 C T SNP C1orf145 ENST00000337335 human ensembl 74_37 -1 known missense c.446 p.R149H 0.988 NULL NULL - no_errors C1orf145 HGNC ENSG00000162913 32 0 0 38 19 33.3333 OBSCN 0 genome.wustl.edu 37 1 228412271 228412271 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 228412271 228412271 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.2765 p.T922M 0.408 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_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 66 0 0 73 40 35.3982 OBSCN 0 genome.wustl.edu 37 1 228482038 228482038 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 228482038 228482038 G T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.11317 p.G3773C 0.000 pfam_Ig_I-set,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_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 171 1 0.581395 143 59 29.2079 NUP133 0 genome.wustl.edu 37 1 229599315 229599315 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 229599315 229599315 C T SNP NUP133 ENST00000261396 human ensembl 74_37 -1 known missense c.2660 p.R887H 1.000 pfam_Nucleoporin_Nup133/Nup155_C pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N - no_errors NUP133 HGNC ENSG00000069248 65 0 0 60 16 21.0526 C1orf131 0 genome.wustl.edu 37 1 231362795 231362795 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 231362795 231362795 C T SNP C1orf131 ENST00000366649 human ensembl 74_37 -1 known missense c.530 p.R177Q 0.996 NULL NULL - no_errors C1orf131 HGNC ENSG00000143633 85 0 0 42 21 33.3333 SIPA1L2 0 genome.wustl.edu 37 1 232650941 232650941 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 232650941 232650941 T C SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.145 p.T49A 0.286 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 94 0 0 67 28 29.4737 LYST 0 genome.wustl.edu 37 1 235922666 235922666 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 235922666 235922666 C T SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.6487 p.A2163T 0.004 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 117 1 0.847458 64 30 31.9149 RYR2 0 genome.wustl.edu 37 1 237617717 237617717 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 237617717 237617717 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.1313 p.A438V 0.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,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,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 64 0 0 28 22 44 RYR2 0 genome.wustl.edu 37 1 237870524 237870524 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 237870524 237870524 A G SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.9850 p.N3284D 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,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,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 16 0 0 20 7 25.9259 FMN2 0 genome.wustl.edu 37 1 240497412 240497412 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 240497412 240497412 G A SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.4648 p.A1550T 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 164 0 0 91 50 35.461 CEP170 0 genome.wustl.edu 37 1 243303329 243303329 + Missense_Mutation SNP G G C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 243303329 243303329 G C SNP CEP170 ENST00000366542 human ensembl 74_37 -1 known missense c.4140 p.N1380K 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC ENSG00000143702 46 0 0 23 8 25.8065 HNRNPU-AS1 0 genome.wustl.edu 37 1 245017699 245017699 + RNA SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 245017699 245017699 A G SNP HNRNPU-AS1 ENST00000489705 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HNRNPU-AS1 HGNC ENSG00000188206 45 0 0 16 15 48.3871 CNST 0 genome.wustl.edu 37 1 246755193 246755193 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 246755193 246755193 G A SNP CNST ENST00000366513 human ensembl 74_37 +1 known missense c.329 p.G110E 0.975 NULL NULL - no_errors CNST HGNC ENSG00000162852 51 0 0 23 13 36.1111 TRIM58 0 genome.wustl.edu 37 1 248020689 248020689 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 248020689 248020689 G A SNP TRIM58 ENST00000366481 human ensembl 74_37 +1 known silent c.141 p.S47 0.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING 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 - no_errors TRIM58 HGNC ENSG00000162722 17 0 0 12 4 25 ZNF672 0 genome.wustl.edu 37 1 249142519 249142519 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 249142519 249142519 C T SNP ZNF672 ENST00000306562 human ensembl 74_37 +1 known missense c.1046 p.T349M 0.056 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF672 HGNC ENSG00000171161 38 0 0 32 10 23.8095 RUNX3 0 genome.wustl.edu 37 1 25254203 25254203 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 25254203 25254203 C T SNP RUNX3 ENST00000338888 human ensembl 74_37 -1 known missense c.343 p.V115M 1.000 pfam_Runt_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt 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 RUNX3 HGNC ENSG00000020633 218 0 0 186 61 24.6964 ZNF683 0 genome.wustl.edu 37 1 26694122 26694122 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 26694122 26694122 G A SNP ZNF683 ENST00000403843 human ensembl 74_37 -1 known missense c.281 p.T94I 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF683 HGNC ENSG00000176083 36 0 0 35 4 10.2564 DHDDS 0 genome.wustl.edu 37 1 26795419 26795419 + Silent SNP A A C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 26795419 26795419 A C SNP DHDDS ENST00000360009 human ensembl 74_37 +1 known silent c.802 p.R268 1.000 NULL pfam_UPP_synth-like,superfamily_UPP_synth-like,tigrfam_UPP_synth-like - no_errors DHDDS HGNC ENSG00000117682 75 0 0 72 23 24.2105 ARID1A 0 genome.wustl.edu 37 1 27088699 27088699 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 27088699 27088699 G A SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known missense c.2308 p.A770T 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 135 0 0 85 59 40.9722 WDTC1 0 genome.wustl.edu 37 1 27620601 27620601 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 27620601 27620601 G A SNP WDTC1 ENST00000319394 human ensembl 74_37 +1 known missense c.751 p.V251I 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 77 0 0 52 25 32.4675 CD164L2 0 genome.wustl.edu 37 1 27709037 27709037 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 27709037 27709037 C T SNP CD164L2 ENST00000374030 human ensembl 74_37 -1 known missense c.209 p.R70H 0.803 pfam_CD164_MGC24 pfam_CD164_MGC24 - no_errors CD164L2 HGNC ENSG00000174950 57 0 0 47 16 25.3968 AHDC1 0 genome.wustl.edu 37 1 27876815 27876815 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 27876815 27876815 G A SNP AHDC1 ENST00000247087 human ensembl 74_37 -1 known silent c.1812 p.D604 0.916 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 240 0 0 152 71 31.8386 SERINC2 0 genome.wustl.edu 37 1 31898734 31898734 + Missense_Mutation SNP A A C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 31898734 31898734 A C SNP SERINC2 ENST00000373710 human ensembl 74_37 +1 known missense c.611 p.E204A 0.997 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC2 HGNC ENSG00000168528 34 0 0 42 26 38.2353 HDAC1 0 genome.wustl.edu 37 1 32793251 32793251 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 32793251 32793251 G T SNP HDAC1 ENST00000373548 human ensembl 74_37 +1 known missense c.609 p.E203D 1.000 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 HDAC1 HGNC ENSG00000116478 96 0 0 57 36 38.7097 ADC 0 genome.wustl.edu 37 1 33560306 33560306 + Missense_Mutation SNP T T G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 33560306 33560306 T G SNP ADC ENST00000373441 human ensembl 74_37 +1 known missense c.745 p.F249V 1.000 pfam_De-COase2_N,superfamily_Ala_racemase/Decarboxylase_C pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase - no_errors ADC HGNC ENSG00000142920 107 0 0 65 33 33.6735 DLGAP3 0 genome.wustl.edu 37 1 35334691 35334691 + Splice_Site SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 35334691 35334691 C T SNP DLGAP3 ENST00000235180 human ensembl 74_37 -1 known splice_site c.2001-1 e7-1 1.000 - - - no_errors DLGAP3 HGNC ENSG00000116544 26 0 0 12 8 40 CEP104 0 genome.wustl.edu 37 1 3768920 3768920 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 3768920 3768920 C T SNP CEP104 ENST00000378230 human ensembl 74_37 -1 known missense c.52 p.G18S 0.990 superfamily_Galactose-bd-like superfamily_Galactose-bd-like,superfamily_ARM-type_fold - no_errors CEP104 HGNC ENSG00000116198 84 0 0 46 23 33.3333 MACF1 0 genome.wustl.edu 37 1 39854025 39854025 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 39854025 39854025 G A SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.9325 p.V3109I 0.000 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 50 0 0 20 7 25.9259 CAP1 0 genome.wustl.edu 37 1 40525076 40525076 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 40525076 40525076 G A SNP CAP1 ENST00000372792 human ensembl 74_37 +1 known missense c.58 p.A20T 1.000 pfam_Adenylate_cyclase-assoc_CAP_N pfam_Adenylate_cyclase-assoc_CAP_N,pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif - no_errors CAP1 HGNC ENSG00000131236 113 0 0 70 26 27.0833 MPL 0 genome.wustl.edu 37 1 43818232 43818232 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 43818232 43818232 G A SNP MPL ENST00000372470 human ensembl 74_37 +1 known missense c.1697 p.S566N 1.000 NULL pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors MPL HGNC ENSG00000117400 58 0 0 53 27 33.75 ATP6V0B 0 genome.wustl.edu 37 1 44442888 44442888 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 44442888 44442888 G T SNP ATP6V0B ENST00000472174 human ensembl 74_37 +1 known missense c.591 p.Q197H 1.000 superfamily_ATPase_proteolipid_c_like_dom,prints_ATPase_proteolipid_csu pfam_ATPase_proteolipid_c_like_dom,superfamily_ATPase_proteolipid_c_like_dom,prints_ATPase_proteolipid_csu - no_errors ATP6V0B HGNC ENSG00000117410 103 0 0 43 29 40.2778 ENSG00000225721 0 genome.wustl.edu 37 1 45241416 45241416 + RNA SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 45241416 45241416 C T SNP ENSG00000225721 ENST00000428791 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors RP11-269F19.2 Clone_based_vega_gene ENSG00000225721 26 0 0 22 10 31.25 PLK3 0 genome.wustl.edu 37 1 45266542 45266542 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 45266542 45266542 G A SNP PLK3 ENST00000372201 human ensembl 74_37 +1 known missense c.241 p.D81N 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_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK3 HGNC ENSG00000173846 32 0 0 23 12 34.2857 PTCH2 0 genome.wustl.edu 37 1 45294915 45294915 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 45294915 45294915 C T SNP PTCH2 ENST00000372192 human ensembl 74_37 -1 known missense c.1285 p.G429R 1.000 pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH2 HGNC ENSG00000117425 42 0 0 51 24 32 SCP2 0 genome.wustl.edu 37 1 53446175 53446175 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 53446175 53446175 C T SNP SCP2 ENST00000371514 human ensembl 74_37 +1 known silent c.933 p.N311 0.996 pfam_Thiolase_C,superfamily_Thiolase-like pfam_SCP2_sterol-bd_dom,pfam_Thiolase_C,pfam_Thiolase_N,superfamily_Thiolase-like,superfamily_SCP2_sterol-bd_dom - no_errors SCP2 HGNC ENSG00000116171 122 0 0 59 37 38.5417 NFIA 0 genome.wustl.edu 37 1 61921003 61921003 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 61921003 61921003 G A SNP NFIA ENST00000371187 human ensembl 74_37 +1 known silent c.1449 p.A483 0.988 NULL pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIA HGNC ENSG00000162599 91 0 0 56 31 35.6322 DOCK7 0 genome.wustl.edu 37 1 62960061 62960061 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 62960061 62960061 C T SNP DOCK7 ENST00000251157 human ensembl 74_37 -1 known missense c.5075 p.R1692Q 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 66 0 0 50 13 20.6349 ATG4C 0 genome.wustl.edu 37 1 63299733 63299733 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 63299733 63299733 G A SNP ATG4C ENST00000317868 human ensembl 74_37 +1 known missense c.958 p.V320M 1.000 pfam_Peptidase_C54 pfam_Peptidase_C54 - no_errors ATG4C HGNC ENSG00000125703 116 0 0 40 15 27.2727 ROR1 0 genome.wustl.edu 37 1 64644147 64644147 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 64644147 64644147 C T SNP ROR1 ENST00000371079 human ensembl 74_37 +1 known missense c.2423 p.P808L 1.000 pirsf_Tyr_kinase_rcpt_ROR pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR1 HGNC ENSG00000185483 122 0 0 113 7 5.83333 PLEKHG5 0 genome.wustl.edu 37 1 6556577 6556577 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 6556577 6556577 G A SNP PLEKHG5 ENST00000537245 human ensembl 74_37 -1 known silent c.126 p.C42 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG5 HGNC ENSG00000171680 55 0 0 32 18 36 DNAJC6 0 genome.wustl.edu 37 1 65874405 65874405 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 65874405 65874405 G A SNP DNAJC6 ENST00000371069 human ensembl 74_37 +1 known missense c.2573 p.R858Q 1.000 superfamily_DnaJ_domain pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_C2_dom,smart_DnaJ_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors DNAJC6 HGNC ENSG00000116675 72 0 0 30 21 41.1765 CAMTA1 0 genome.wustl.edu 37 1 7724181 7724181 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 7724181 7724181 C T SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known missense c.1574 p.T525I 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 113 0 0 89 6 6.31579 CLCA1 0 genome.wustl.edu 37 1 86961302 86961302 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 86961302 86961302 G A SNP CLCA1 ENST00000234701 human ensembl 74_37 +1 known missense c.2057 p.R686Q 0.001 tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA1 HGNC ENSG00000016490 61 0 0 30 15 33.3333 ZNF644 0 genome.wustl.edu 37 1 91405088 91405088 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 91405088 91405088 A G SNP ZNF644 ENST00000337393 human ensembl 74_37 -1 known missense c.1823 p.L608S 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 152 0 0 63 39 38.2353 TGFBR3 0 genome.wustl.edu 37 1 92181821 92181821 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 92181821 92181821 A G SNP TGFBR3 ENST00000212355 human ensembl 74_37 -1 known missense c.1838 p.V613A 1.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors TGFBR3 HGNC ENSG00000069702 52 0 0 36 18 33.3333 PYROXD2 0 genome.wustl.edu 37 10 100159860 100159860 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 100159860 100159860 T C SNP PYROXD2 ENST00000370575 human ensembl 74_37 -1 known missense c.470 p.Q157R 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase - no_errors PYROXD2 HGNC ENSG00000119943 48 0 0 32 25 43.8596 NKX2-3 0 genome.wustl.edu 37 10 101295042 101295042 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 101295042 101295042 C T SNP NKX2-3 ENST00000344586 human ensembl 74_37 +1 known missense c.659 p.P220L 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-3 HGNC ENSG00000119919 18 0 0 11 8 42.1053 DNMBP 0 genome.wustl.edu 37 10 101637006 101637006 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 101637006 101637006 T C SNP DNMBP ENST00000342239 human ensembl 74_37 -1 known missense c.4708 p.K1570E 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC ENSG00000107554 163 0 0 118 7 5.6 SEC31B 0 genome.wustl.edu 37 10 102248625 102248625 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 102248625 102248625 G A SNP SEC31B ENST00000370345 human ensembl 74_37 -1 known missense c.3278 p.A1093V 0.951 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31B HGNC ENSG00000075826 105 0 0 53 36 40.4494 MGEA5 0 genome.wustl.edu 37 10 103558759 103558759 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 103558759 103558759 G A SNP MGEA5 ENST00000361464 human ensembl 74_37 -1 known missense c.1649 p.A550V 0.992 NULL pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF,superfamily_Acyl_CoA_acyltransferase - no_errors MGEA5 HGNC ENSG00000198408 124 0 0 76 35 31.5315 NEURL 0 genome.wustl.edu 37 10 105349958 105349958 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 105349958 105349958 C T SNP NEURL ENST00000369780 human ensembl 74_37 +1 known silent c.1554 p.S518 0.385 NULL pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z,pfscan_Znf_RING - no_errors NEURL HGNC ENSG00000107954 145 0 0 102 53 34.1935 SH3PXD2A 0 genome.wustl.edu 37 10 105362048 105362048 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 105362048 105362048 G A SNP SH3PXD2A ENST00000369774 human ensembl 74_37 -1 known missense c.2927 p.A976V 0.976 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2A HGNC ENSG00000107957 55 0 0 45 18 28.5714 SORCS1 0 genome.wustl.edu 37 10 108412225 108412225 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 108412225 108412225 G A SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known missense c.2390 p.P797L 1.000 superfamily_PKD_dom,smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 95 0 0 67 44 39.6396 PDCD4 0 genome.wustl.edu 37 10 112641196 112641196 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 112641196 112641196 C T SNP PDCD4 ENST00000280154 human ensembl 74_37 +1 known silent c.249 p.D83 0.980 NULL pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI - no_errors PDCD4 HGNC ENSG00000150593 116 0 0 58 39 40.2062 ABLIM1 0 genome.wustl.edu 37 10 116417742 116417742 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 116417742 116417742 C T SNP ABLIM1 ENST00000277895 human ensembl 74_37 -1 known missense c.218 p.R73H 0.000 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 100 0 0 51 20 28.169 SLC18A2 0 genome.wustl.edu 37 10 119001232 119001232 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 119001232 119001232 C T SNP SLC18A2 ENST00000298472 human ensembl 74_37 +1 known missense c.28 p.R10C 0.306 NULL pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A2 HGNC ENSG00000165646 18 0 0 15 5 25 GRK5 0 genome.wustl.edu 37 10 121212266 121212266 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 121212266 121212266 C T SNP GRK5 ENST00000392870 human ensembl 74_37 +1 known silent c.1488 p.D496 0.107 superfamily_Kinase-like_dom,smart_AGC-kinase_C,prints_GPCR_kinase pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK5 HGNC ENSG00000198873 50 0 0 31 16 34.0426 MCMBP 0 genome.wustl.edu 37 10 121591584 121591584 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 121591584 121591584 C T SNP MCMBP ENST00000360003 human ensembl 74_37 -1 known missense c.1742 p.R581Q 1.000 pfam_MCM_complex-bd pfam_MCM_complex-bd - no_errors MCMBP HGNC ENSG00000197771 94 0 0 92 5 5.15464 CDC123 0 genome.wustl.edu 37 10 12279206 12279206 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 12279206 12279206 G A SNP CDC123 ENST00000281141 human ensembl 74_37 +1 known missense c.629 p.R210H 1.000 pfam_D123,pirsf_Cell_div_Cdc123 pfam_D123,pirsf_Cell_div_Cdc123 - no_errors CDC123 HGNC ENSG00000151465 74 0 0 30 13 30.2326 BUB3 0 genome.wustl.edu 37 10 124914569 124914569 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 124914569 124914569 G A SNP BUB3 ENST00000368865 human ensembl 74_37 +1 known missense c.136 p.A46T 0.999 superfamily_WD40_repeat_dom,smart_WD40_repeat 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 BUB3 HGNC ENSG00000154473 132 0 0 81 53 39.5522 MMP21 0 genome.wustl.edu 37 10 127462424 127462424 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 127462424 127462424 C T SNP MMP21 ENST00000368808 human ensembl 74_37 -1 known missense c.673 p.D225N 1.000 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP21 HGNC ENSG00000154485 80 0 0 47 37 44.0476 UROS 0 genome.wustl.edu 37 10 127477547 127477547 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 127477547 127477547 G A SNP UROS ENST00000368786 human ensembl 74_37 -1 known missense c.688 p.R230C 0.005 pfam_4pyrrol_synth_uPrphyn_synth,superfamily_4pyrrol_synth_uPrphyn_synth pfam_4pyrrol_synth_uPrphyn_synth,superfamily_4pyrrol_synth_uPrphyn_synth - no_errors UROS HGNC ENSG00000188690 31 0 0 31 9 22.5 BCCIP 0 genome.wustl.edu 37 10 127524804 127524804 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 127524804 127524804 C T SNP BCCIP ENST00000278100 human ensembl 74_37 +1 known silent c.906 p.N302 0.000 NULL NULL - no_errors BCCIP HGNC ENSG00000107949 101 0 0 48 22 31.4286 MKI67 0 genome.wustl.edu 37 10 129905283 129905283 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 129905283 129905283 G A SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known silent c.4821 p.N1607 0.000 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 226 0 0 151 62 29.108 TCERG1L 0 genome.wustl.edu 37 10 132891537 132891537 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 132891537 132891537 C A SNP TCERG1L ENST00000368642 human ensembl 74_37 -1 known missense c.1649 p.R550M 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1L HGNC ENSG00000176769 116 0 0 54 17 23.9437 TCERG1L 0 genome.wustl.edu 37 10 132944790 132944790 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 132944790 132944790 G A SNP TCERG1L ENST00000368642 human ensembl 74_37 -1 known missense c.1168 p.R390C 1.000 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1L HGNC ENSG00000176769 82 0 0 47 23 32.8571 PPP2R2D 0 genome.wustl.edu 37 10 133769241 133769241 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 133769241 133769241 C T SNP PPP2R2D ENST00000455566 human ensembl 74_37 +1 known missense c.1043 p.T348M 0.520 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2D HGNC ENSG00000175470 48 0 0 38 18 32.1429 PWWP2B 0 genome.wustl.edu 37 10 134218962 134218962 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 134218962 134218962 C T SNP PWWP2B ENST00000305233 human ensembl 74_37 +1 known missense c.958 p.R320W 0.716 NULL pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors PWWP2B HGNC ENSG00000171813 31 0 0 25 22 46.8085 KNDC1 0 genome.wustl.edu 37 10 135025243 135025243 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 135025243 135025243 C T SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known missense c.4123 p.R1375W 0.986 superfamily_Ras_GEF_dom 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 59 0 0 33 20 37.7358 STAM 0 genome.wustl.edu 37 10 17742265 17742265 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 17742265 17742265 C T SNP STAM ENST00000377524 human ensembl 74_37 +1 known missense c.899 p.A300V 1.000 NULL pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox - no_errors STAM HGNC ENSG00000136738 85 0 0 24 25 51.0204 SLC39A12 0 genome.wustl.edu 37 10 18250727 18250727 + Nonsense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 18250727 18250727 C A SNP SLC39A12 ENST00000377369 human ensembl 74_37 +1 known nonsense c.479 p.S160* 0.941 NULL pfam_ZIP - no_errors SLC39A12 HGNC ENSG00000148482 98 0 0 34 14 29.1667 CACNB2 0 genome.wustl.edu 37 10 18690913 18690913 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 18690913 18690913 C T SNP CACNB2 ENST00000324631 human ensembl 74_37 +1 known missense c.274 p.R92W 1.000 pfam_VDCC_L_bsu pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b2su - no_errors CACNB2 HGNC ENSG00000165995 62 0 0 33 19 36.5385 ZMYND11 0 genome.wustl.edu 37 10 298396 298396 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 298396 298396 C T SNP ZMYND11 ENST00000381591 human ensembl 74_37 +1 known missense c.1795 p.R599C 1.000 NULL pfam_PWWP_dom,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND11 HGNC ENSG00000015171 111 0 0 114 58 33.7209 KIAA1462 0 genome.wustl.edu 37 10 30316721 30316721 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 30316721 30316721 C T SNP KIAA1462 ENST00000375377 human ensembl 74_37 -1 known missense c.2356 p.V786M 0.000 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 127 0 0 98 46 31.9444 PFKP 0 genome.wustl.edu 37 10 3151664 3151664 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 3151664 3151664 G A SNP PFKP ENST00000381125 human ensembl 74_37 +1 known missense c.1081 p.V361M 1.000 superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,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 24 0 0 17 9 34.6154 PARD3 0 genome.wustl.edu 37 10 34400252 34400252 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 34400252 34400252 C T SNP PARD3 ENST00000374789 human ensembl 74_37 -1 known missense c.3916 p.G1306R 0.993 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 73 0 0 67 4 5.6338 CREM 0 genome.wustl.edu 37 10 35495867 35495867 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 35495867 35495867 G A SNP CREM ENST00000395895 human ensembl 74_37 +1 known missense c.826 p.A276T 0.989 NULL pfam_bZIP,pfam_Coactivator_CBP_pKID,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB - no_errors CREM HGNC ENSG00000095794 209 0 0 141 101 41.7355 ZNF37A 0 genome.wustl.edu 37 10 38407134 38407134 + Missense_Mutation SNP A A T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 38407134 38407134 A T SNP ZNF37A ENST00000351773 human ensembl 74_37 +1 known missense c.1055 p.E352V 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF37A HGNC ENSG00000075407 121 1 0.819672 113 44 28.0255 ALOX5 0 genome.wustl.edu 37 10 45938635 45938635 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 45938635 45938635 C T SNP ALOX5 ENST00000374391 human ensembl 74_37 +1 known silent c.1422 p.D474 0.966 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C,pfscan_PLAT/LH2_dom - no_errors ALOX5 HGNC ENSG00000012779 283 1 0.352113 219 88 28.6645 SYT15 0 genome.wustl.edu 37 10 46962096 46962096 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 46962096 46962096 G A SNP SYT15 ENST00000374323 human ensembl 74_37 -1 known silent c.1299 p.G433 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT15 HGNC ENSG00000204176 64 0 0 72 17 19.1011 GPRIN2 0 genome.wustl.edu 37 10 47000062 47000062 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 47000062 47000062 C T SNP GPRIN2 ENST00000374314 human ensembl 74_37 +1 known silent c.1182 p.Y394 0.782 NULL NULL - no_errors GPRIN2 HGNC ENSG00000204175 104 0 0 127 21 14.1892 ARHGAP22 0 genome.wustl.edu 37 10 49658466 49658466 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 49658466 49658466 C T SNP ARHGAP22 ENST00000417912 human ensembl 74_37 -1 known missense c.1754 p.S585N 0.002 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP22 HGNC ENSG00000128805 9 0 0 8 3 27.2727 AKR1CL1 0 genome.wustl.edu 37 10 5203674 5203674 + Splice_Site SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 5203674 5203674 C T SNP AKR1CL1 ENST00000472691 human ensembl 74_37 -1 known splice_site c.NULL NULL 0.003 - - - no_errors AKR1CL1 HGNC ENSG00000196326 85 0 0 51 23 31.0811 AIFM2 0 genome.wustl.edu 37 10 71883164 71883164 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 71883164 71883164 G A SNP AIFM2 ENST00000307864 human ensembl 74_37 -1 known silent c.291 p.G97 0.022 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2,prints_Rng_hydrolase-like - no_errors AIFM2 HGNC ENSG00000042286 73 0 0 41 31 43.0556 ADAMTS14 0 genome.wustl.edu 37 10 72498695 72498695 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 72498695 72498695 G A SNP ADAMTS14 ENST00000373208 human ensembl 74_37 +1 known missense c.1706 p.R569Q 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS14 HGNC ENSG00000138316 48 0 0 40 15 27.2727 SFMBT2 0 genome.wustl.edu 37 10 7409683 7409683 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 7409683 7409683 C T SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known missense c.364 p.D122N 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 55 0 0 32 21 39.6226 OIT3 0 genome.wustl.edu 37 10 74692258 74692258 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 74692258 74692258 G A SNP OIT3 ENST00000334011 human ensembl 74_37 +1 known silent c.1614 p.P538 0.212 NULL pfam_ZP_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors OIT3 HGNC ENSG00000138315 79 0 0 56 29 34.1176 AGAP5 0 genome.wustl.edu 37 10 75451802 75451802 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 75451802 75451802 T C SNP AGAP5 ENST00000374094 human ensembl 74_37 -1 known missense c.395 p.H132R 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP5 HGNC ENSG00000172650 22 0 0 47 4 7.84314 ZSWIM8 0 genome.wustl.edu 37 10 75558820 75558820 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 75558820 75558820 G A SNP ZSWIM8 ENST00000398706 human ensembl 74_37 +1 known missense c.4237 p.V1413M 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM8 HGNC ENSG00000214655 35 0 0 21 14 40 ITIH5 0 genome.wustl.edu 37 10 7618941 7618941 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 7618941 7618941 C T SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known missense c.1453 p.D485N 1.000 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 96 0 0 44 23 34.3284 GATA3 0 genome.wustl.edu 37 10 8097849 8097849 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 8097849 8097849 G A SNP GATA3 ENST00000379328 human ensembl 74_37 +1 known silent c.231 p.P77 1.000 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 10 0 0 4 5 55.5556 ZMIZ1 0 genome.wustl.edu 37 10 81050777 81050777 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 81050777 81050777 C T SNP ZMIZ1 ENST00000334512 human ensembl 74_37 +1 known missense c.602 p.A201V 0.992 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ENSG00000108175 131 0 0 91 31 25.4098 MYOF 0 genome.wustl.edu 37 10 95155899 95155899 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 95155899 95155899 C T SNP MYOF ENST00000359263 human ensembl 74_37 -1 known missense c.1417 p.D473N 1.000 smart_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors MYOF HGNC ENSG00000138119 93 0 0 41 29 41.4286 FFAR4 0 genome.wustl.edu 37 10 95327000 95327000 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 95327000 95327000 G A SNP FFAR4 ENST00000371483 human ensembl 74_37 +1 known missense c.523 p.V175I 0.954 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors FFAR4 HGNC ENSG00000186188 27 0 0 31 12 27.907 CCNJ 0 genome.wustl.edu 37 10 97816675 97816675 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 97816675 97816675 C T SNP CCNJ ENST00000465148 human ensembl 74_37 +1 known silent c.498 p.D166 0.989 pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_C-dom,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNJ HGNC ENSG00000107443 104 0 0 78 29 27.1028 ZFYVE27 0 genome.wustl.edu 37 10 99509312 99509312 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 99509312 99509312 G A SNP ZFYVE27 ENST00000356257 human ensembl 74_37 +1 known silent c.633 p.T211 0.950 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE27 HGNC ENSG00000155256 106 0 0 66 37 35.9223 ZFYVE27 0 genome.wustl.edu 37 10 99512810 99512810 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 99512810 99512810 G A SNP ZFYVE27 ENST00000356257 human ensembl 74_37 +1 known missense c.928 p.A310T 0.447 superfamily_Znf_FYVE_PHD pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE27 HGNC ENSG00000155256 22 0 0 23 3 11.5385 MUC6 0 genome.wustl.edu 37 11 1026075 1026075 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 1026075 1026075 G A SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known silent c.2613 p.Y871 0.986 pfam_VWF_type-D,smart_VWC_out,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 12 0 0 9 4 30.7692 MUC2 0 genome.wustl.edu 37 11 1098738 1098738 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 1098738 1098738 G A SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.7108 p.A2370T 0.096 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 18 0 0 8 8 50 LAYN 0 genome.wustl.edu 37 11 111425932 111425932 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 111425932 111425932 G A SNP LAYN ENST00000375615 human ensembl 74_37 +1 known missense c.599 p.G200D 0.993 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors LAYN HGNC ENSG00000204381 59 0 0 40 28 41.1765 DIXDC1 0 genome.wustl.edu 37 11 111851488 111851488 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 111851488 111851488 G A SNP DIXDC1 ENST00000440460 human ensembl 74_37 +1 known missense c.683 p.S228N 1.000 NULL pfam_DIX,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_DIX,pfscan_CH-domain,pfscan_DIX - no_errors DIXDC1 HGNC ENSG00000150764 53 0 0 32 18 36 NXPE4 0 genome.wustl.edu 37 11 114441770 114441770 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 114441770 114441770 T C SNP NXPE4 ENST00000375478 human ensembl 74_37 -1 known missense c.1525 p.S509G 0.215 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE4 HGNC ENSG00000137634 118 0 0 51 30 37.037 SIDT2 0 genome.wustl.edu 37 11 117049937 117049937 + RNA SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 117049937 117049937 C T SNP SIDT2 ENST00000525339 human ensembl 74_37 +1 putative rna NULL NULL 0.976 - - - no_errors SIDT2 HGNC ENSG00000149577 43 0 0 28 10 26.3158 VPS11 0 genome.wustl.edu 37 11 118949952 118949952 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 118949952 118949952 C T SNP VPS11 ENST00000300793 human ensembl 74_37 +1 known missense c.2377 p.R793W 0.974 pirsf_VPS11 pfam_VPS11_C,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_RING,pirsf_VPS11,pfscan_Znf_RING - no_errors VPS11 HGNC ENSG00000160695 23 0 0 28 3 9.67742 ABCG4 0 genome.wustl.edu 37 11 119029555 119029555 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 119029555 119029555 G A SNP ABCG4 ENST00000307417 human ensembl 74_37 +1 known silent c.1353 p.A451 0.044 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 ABCG4 HGNC ENSG00000172350 247 0 0 159 83 34.2975 USP2 0 genome.wustl.edu 37 11 119243468 119243468 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 119243468 119243468 C A SNP USP2 ENST00000260187 human ensembl 74_37 -1 known missense c.723 p.K241N 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP2 HGNC ENSG00000036672 86 0 0 52 22 29.7297 CRTAM 0 genome.wustl.edu 37 11 122720827 122720827 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 122720827 122720827 C T SNP CRTAM ENST00000227348 human ensembl 74_37 +1 known missense c.98 p.T33M 0.261 pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CRTAM HGNC ENSG00000109943 63 0 0 47 21 30.8824 VWA5A 0 genome.wustl.edu 37 11 124007910 124007910 + Missense_Mutation SNP A A T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 124007910 124007910 A T SNP VWA5A ENST00000392748 human ensembl 74_37 +1 known missense c.1814 p.H605L 0.000 NULL pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors VWA5A HGNC ENSG00000110002 97 0 0 40 22 35.4839 MUC5B 0 genome.wustl.edu 37 11 1266656 1266656 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 1266656 1266656 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.8555 p.R2852H 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 149 0 0 141 71 33.4906 KCNJ5 0 genome.wustl.edu 37 11 128781366 128781366 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 128781366 128781366 C T SNP KCNJ5 ENST00000529694 human ensembl 74_37 +1 known silent c.198 p.N66 0.998 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4 - no_errors KCNJ5 HGNC ENSG00000120457 134 0 0 79 43 35.2459 IGSF9B 0 genome.wustl.edu 37 11 133789980 133789980 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 133789980 133789980 C T SNP IGSF9B ENST00000321016 human ensembl 74_37 -1 known missense c.3640 p.G1214S 0.966 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 77 0 0 56 29 34.1176 NCAPD3 0 genome.wustl.edu 37 11 134073687 134073687 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 134073687 134073687 G T SNP NCAPD3 ENST00000534548 human ensembl 74_37 -1 known missense c.1330 p.L444M 1.000 superfamily_ARM-type_fold,pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC ENSG00000151503 92 0 0 73 24 24.7423 PIK3C2A 0 genome.wustl.edu 37 11 17143869 17143869 + Silent SNP A A C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 17143869 17143869 A C SNP PIK3C2A ENST00000265970 human ensembl 74_37 -1 known silent c.2523 p.P841 1.000 pfam_PI3K_C2_dom,superfamily_C2_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 123 0 0 48 20 29.4118 USH1C 0 genome.wustl.edu 37 11 17522630 17522630 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 17522630 17522630 G A SNP USH1C ENST00000005226 human ensembl 74_37 -1 known missense c.2348 p.A783V 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors USH1C HGNC ENSG00000006611 45 0 0 33 10 23.2558 MYOD1 0 genome.wustl.edu 37 11 17741783 17741783 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 17741783 17741783 A G SNP MYOD1 ENST00000250003 human ensembl 74_37 +1 known missense c.454 p.N152D 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_Basic,pfam_Myf5,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYOD1 HGNC ENSG00000129152 60 0 0 37 20 35.0877 PTPN5 0 genome.wustl.edu 37 11 18765600 18765600 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 18765600 18765600 G T SNP PTPN5 ENST00000358540 human ensembl 74_37 -1 known missense c.244 p.L82I 0.963 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN5 HGNC ENSG00000110786 221 0 0 125 58 31.694 NAV2 0 genome.wustl.edu 37 11 19901479 19901479 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 19901479 19901479 G A SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known silent c.576 p.Q192 0.995 superfamily_CH-domain,pfscan_CH-domain pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 114 0 0 76 52 40.625 LUZP2 0 genome.wustl.edu 37 11 25004729 25004729 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 25004729 25004729 C T SNP LUZP2 ENST00000336930 human ensembl 74_37 +1 known missense c.655 p.R219C 0.719 NULL NULL - no_errors LUZP2 HGNC ENSG00000187398 157 0 0 78 33 29.7297 KCNA4 0 genome.wustl.edu 37 11 30033224 30033224 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 30033224 30033224 G A SNP KCNA4 ENST00000328224 human ensembl 74_37 -1 known silent c.1002 p.D334 0.998 NULL pfam_K_chnl_volt-dep_Kv1.4_TID,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_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 125 0 0 99 40 28.777 ART1 0 genome.wustl.edu 37 11 3681156 3681156 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 3681156 3681156 G A SNP ART1 ENST00000250693 human ensembl 74_37 +1 known missense c.407 p.R136H 0.997 pfam_ART pfam_ART,prints_ART - no_errors ART1 HGNC ENSG00000129744 87 0 0 50 35 41.1765 ART1 0 genome.wustl.edu 37 11 3681163 3681163 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 3681163 3681163 G A SNP ART1 ENST00000250693 human ensembl 74_37 +1 known silent c.414 p.A138 0.003 pfam_ART pfam_ART,prints_ART - no_errors ART1 HGNC ENSG00000129744 94 0 0 49 31 38.75 TP53I11 0 genome.wustl.edu 37 11 44957180 44957180 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 44957180 44957180 G A SNP TP53I11 ENST00000308212 human ensembl 74_37 -1 known missense c.368 p.T123M 1.000 NULL NULL - no_errors TP53I11 HGNC ENSG00000175274 56 0 0 40 23 36.5079 SLC35C1 0 genome.wustl.edu 37 11 45827874 45827874 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 45827874 45827874 C T SNP SLC35C1 ENST00000314134 human ensembl 74_37 +1 known silent c.522 p.C174 0.951 pfam_UAA,pfam_DMT pfam_Tpt_PEP_trans_dom,pfam_UAA,pfam_DMT - no_errors SLC35C1 HGNC ENSG00000181830 40 0 0 30 13 30.2326 KBTBD4 0 genome.wustl.edu 37 11 47599371 47599371 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 47599371 47599371 G T SNP KBTBD4 ENST00000430070 human ensembl 74_37 -1 known missense c.229 p.L77M 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors KBTBD4 HGNC ENSG00000123444 66 0 0 29 21 42 NDUFS3 0 genome.wustl.edu 37 11 47603972 47603972 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 47603972 47603972 C T SNP NDUFS3 ENST00000263774 human ensembl 74_37 +1 known silent c.579 p.F193 0.998 pfam_NADH_UbQ_OxRdtase_30kDa_su,tigrfam_NADH_DH_suC pfam_NADH_UbQ_OxRdtase_30kDa_su,tigrfam_NADH_DH_suC - no_errors NDUFS3 HGNC ENSG00000213619 477 0 0 395 53 11.8304 OR51F2 0 genome.wustl.edu 37 11 4843637 4843637 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 4843637 4843637 A G SNP OR51F2 ENST00000322110 human ensembl 74_37 +1 known missense c.1022 p.Y341C 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51F2 HGNC ENSG00000176925 30 0 0 18 9 33.3333 OR51I1 0 genome.wustl.edu 37 11 5462477 5462477 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 5462477 5462477 T C SNP OR51I1 ENST00000380211 human ensembl 74_37 -1 known missense c.268 p.N90D 0.940 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 OR51I1 HGNC ENSG00000167359 86 0 0 61 29 32.2222 TRIM48 0 genome.wustl.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 55035844 55035844 T C SNP TRIM48 ENST00000417545 human ensembl 74_37 +1 known missense c.574 p.Y192H 0.183 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 107 0 0 55 19 25.6757 OR5D18 0 genome.wustl.edu 37 11 55587822 55587822 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 55587822 55587822 C T SNP OR5D18 ENST00000333976 human ensembl 74_37 +1 known silent c.717 p.F239 1.000 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 OR5D18 HGNC ENSG00000186119 94 0 0 56 41 42.268 OR5M9 0 genome.wustl.edu 37 11 56229955 56229955 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 56229955 56229955 A G SNP OR5M9 ENST00000279791 human ensembl 74_37 -1 known missense c.923 p.V308A 0.005 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M9 HGNC ENSG00000150269 93 0 0 50 21 29.5775 OR5M10 0 genome.wustl.edu 37 11 56345173 56345173 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 56345173 56345173 C T SNP OR5M10 ENST00000526812 human ensembl 74_37 -1 known missense c.25 p.V9M 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M10 HGNC ENSG00000254834 86 0 0 81 5 5.81395 APLNR 0 genome.wustl.edu 37 11 57003530 57003530 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 57003530 57003530 G A SNP APLNR ENST00000257254 human ensembl 74_37 -1 known missense c.949 p.R317C 1.000 pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors APLNR HGNC ENSG00000134817 50 0 0 60 6 9.09091 PATL1 0 genome.wustl.edu 37 11 59421493 59421493 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 59421493 59421493 G A SNP PATL1 ENST00000300146 human ensembl 74_37 -1 known missense c.1084 p.R362C 1.000 pfam_Topo_II-assoc_PAT1 pfam_Topo_II-assoc_PAT1 - no_errors PATL1 HGNC ENSG00000166889 143 0 0 84 28 25 INCENP 0 genome.wustl.edu 37 11 61895678 61895678 + Silent SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 61895678 61895678 T C SNP INCENP ENST00000394818 human ensembl 74_37 +1 known silent c.45 p.C15 0.976 pfam_INCENP_N pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC ENSG00000149503 84 0 0 54 30 35.7143 CDHR5 0 genome.wustl.edu 37 11 619088 619088 + Missense_Mutation SNP G G C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 619088 619088 G C SNP CDHR5 ENST00000358353 human ensembl 74_37 -1 known missense c.1471 p.P491A 0.003 NULL superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin - no_errors CDHR5 HGNC ENSG00000099834 56 0 0 39 18 31.5789 GPR137 0 genome.wustl.edu 37 11 64054075 64054075 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 64054075 64054075 A G SNP GPR137 ENST00000313074 human ensembl 74_37 +1 known missense c.79 p.T27A 1.000 NULL NULL - no_errors GPR137 HGNC ENSG00000173264 115 0 0 79 29 26.8519 NRXN2 0 genome.wustl.edu 37 11 64419047 64419047 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 64419047 64419047 C T SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known silent c.2598 p.T866 0.006 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 52 0 0 62 4 6.06061 PPP2R5B 0 genome.wustl.edu 37 11 64701224 64701224 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 64701224 64701224 C T SNP PPP2R5B ENST00000164133 human ensembl 74_37 +1 known missense c.1402 p.R468W 1.000 pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5B HGNC ENSG00000068971 10 0 0 4 3 42.8571 CAPN1 0 genome.wustl.edu 37 11 64972252 64972252 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 64972252 64972252 G A SNP CAPN1 ENST00000279247 human ensembl 74_37 +1 known missense c.1264 p.A422T 0.996 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN1 HGNC ENSG00000014216 66 0 0 60 34 36.1702 PCNXL3 0 genome.wustl.edu 37 11 65386337 65386337 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 65386337 65386337 C T SNP PCNXL3 ENST00000355703 human ensembl 74_37 +1 known missense c.1504 p.R502C 1.000 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 23 0 0 19 12 38.7097 CST6 0 genome.wustl.edu 37 11 65780296 65780296 + Splice_Site SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 65780296 65780296 G A SNP CST6 ENST00000312134 human ensembl 74_37 +1 known splice_site c.241-1 e2-1 1.000 - - - no_errors CST6 HGNC ENSG00000175315 92 0 0 57 40 41.2371 SF3B2 0 genome.wustl.edu 37 11 65822672 65822672 + Silent SNP G G C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 65822672 65822672 G C SNP SF3B2 ENST00000322535 human ensembl 74_37 +1 known silent c.384 p.G128 0.977 NULL pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom - no_errors SF3B2 HGNC ENSG00000087365 60 0 0 48 26 35.1351 CD248 0 genome.wustl.edu 37 11 66082550 66082550 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 66082550 66082550 C T SNP CD248 ENST00000311330 human ensembl 74_37 -1 known missense c.1949 p.G650D 0.005 NULL pfam_C-type_lectin,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,pfscan_C-type_lectin - no_errors CD248 HGNC ENSG00000174807 91 0 0 55 26 32.0988 SLC29A2 0 genome.wustl.edu 37 11 66136992 66136992 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 66136992 66136992 C T SNP SLC29A2 ENST00000357440 human ensembl 74_37 -1 known silent c.123 p.A41 0.733 superfamily_MFS_dom_general_subst_transpt,tigrfam_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt - no_errors SLC29A2 HGNC ENSG00000174669 253 0 0 177 109 38.1119 PELI3 0 genome.wustl.edu 37 11 66238753 66238753 + Nonsense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 66238753 66238753 C T SNP PELI3 ENST00000320740 human ensembl 74_37 +1 known nonsense c.265 p.R89* 0.989 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI3 HGNC ENSG00000174516 162 0 0 169 81 32.4 PELI3 0 genome.wustl.edu 37 11 66238826 66238826 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 66238826 66238826 C T SNP PELI3 ENST00000320740 human ensembl 74_37 +1 known missense c.338 p.T113M 0.951 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI3 HGNC ENSG00000174516 71 0 0 65 43 39.8148 DPP3 0 genome.wustl.edu 37 11 66258805 66258805 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 66258805 66258805 A G SNP DPP3 ENST00000360510 human ensembl 74_37 +1 known missense c.749 p.D250G 1.000 pirsf_Dipeptidyl-peptase3 pirsf_Dipeptidyl-peptase3 - no_errors DPP3 HGNC ENSG00000254986 111 0 0 74 31 29.5238 SPTBN2 0 genome.wustl.edu 37 11 66460058 66460058 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 66460058 66460058 G A SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known silent c.5139 p.R1713 0.122 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin 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 SPTBN2 HGNC ENSG00000173898 59 0 0 47 17 26.5625 SPTBN2 0 genome.wustl.edu 37 11 66461675 66461675 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 66461675 66461675 G A SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known missense c.4438 p.R1480C 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin 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 SPTBN2 HGNC ENSG00000173898 89 0 0 49 24 32.8767 PC 0 genome.wustl.edu 37 11 66618613 66618613 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 66618613 66618613 C T SNP PC ENST00000393958 human ensembl 74_37 -1 known silent c.2121 p.T707 0.953 pfam_PYR_CT,pirsf_Pyruv_COase,pfscan_PYR_CT,tigrfam_Pyruv_COase pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase - no_errors PC HGNC ENSG00000173599 116 0 0 56 51 47.6636 SYT12 0 genome.wustl.edu 37 11 66807455 66807455 + Silent SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 66807455 66807455 C A SNP SYT12 ENST00000393946 human ensembl 74_37 +1 known silent c.402 p.A134 0.206 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT12 HGNC ENSG00000173227 86 0 0 88 6 6.38298 IGHMBP2 0 genome.wustl.edu 37 11 68675696 68675696 + Missense_Mutation SNP G G C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 68675696 68675696 G C SNP IGHMBP2 ENST00000255078 human ensembl 74_37 +1 known missense c.340 p.V114L 0.287 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 129 0 0 96 36 27.2727 CTTN 0 genome.wustl.edu 37 11 70266592 70266592 + Missense_Mutation SNP T T A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 70266592 70266592 T A SNP CTTN ENST00000301843 human ensembl 74_37 +1 known missense c.766 p.L256M 0.000 pfam_Hs1_Cortactin,pfscan_Hs1_Cortactin pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors CTTN HGNC ENSG00000085733 100 0 0 48 29 37.6623 PDE2A 0 genome.wustl.edu 37 11 72295262 72295262 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 72295262 72295262 C T SNP PDE2A ENST00000334456 human ensembl 74_37 -1 known missense c.1633 p.G545S 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE2A HGNC ENSG00000186642 38 0 0 26 21 44.6809 FCHSD2 0 genome.wustl.edu 37 11 72600987 72600987 + Nonsense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 72600987 72600987 G A SNP FCHSD2 ENST00000409418 human ensembl 74_37 -1 known nonsense c.928 p.R310* 1.000 NULL pfam_SH3_domain,pfam_FCH_dom,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors FCHSD2 HGNC ENSG00000137478 23 0 0 14 7 33.3333 C2CD3 0 genome.wustl.edu 37 11 73809298 73809298 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 73809298 73809298 T C SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known missense c.2735 p.D912G 1.000 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 103 0 0 42 24 36.3636 C2CD3 0 genome.wustl.edu 37 11 73811695 73811695 + Silent SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 73811695 73811695 T C SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known silent c.2607 p.K869 1.000 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 77 0 0 41 23 35.9375 POLD3 0 genome.wustl.edu 37 11 74347278 74347278 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 74347278 74347278 G A SNP POLD3 ENST00000263681 human ensembl 74_37 +1 known missense c.1156 p.V386I 0.839 pfam_DNA_polymerase_subunit_Cdc27 pfam_DNA_polymerase_subunit_Cdc27 - no_errors POLD3 HGNC ENSG00000077514 60 0 0 14 15 51.7241 NEU3 0 genome.wustl.edu 37 11 74705645 74705645 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 74705645 74705645 G A SNP NEU3 ENST00000294064 human ensembl 74_37 +1 known silent c.186 p.L62 1.000 superfamily_Sialidases superfamily_Sialidases - no_errors NEU3 HGNC ENSG00000162139 123 0 0 94 55 36.9128 CAPN5 0 genome.wustl.edu 37 11 76829322 76829322 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 76829322 76829322 C T SNP CAPN5 ENST00000278559 human ensembl 74_37 +1 known missense c.1091 p.T364M 0.075 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN5 HGNC ENSG00000149260 24 0 0 31 17 35.4167 MYO7A 0 genome.wustl.edu 37 11 76893012 76893012 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 76893012 76893012 C T SNP MYO7A ENST00000409709 human ensembl 74_37 +1 known missense c.2920 p.R974W 0.277 NULL 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 82 0 0 49 17 25.7576 INTS4 0 genome.wustl.edu 37 11 77669839 77669839 + Silent SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 77669839 77669839 A G SNP INTS4 ENST00000534064 human ensembl 74_37 -1 known silent c.750 p.S250 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors INTS4 HGNC ENSG00000149262 35 0 0 21 6 22.2222 GAB2 0 genome.wustl.edu 37 11 77937657 77937657 + Missense_Mutation SNP C C G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 77937657 77937657 C G SNP GAB2 ENST00000361507 human ensembl 74_37 -1 known missense c.1061 p.R354P 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB2 HGNC ENSG00000033327 103 1 0.961538 48 36 42.8571 PIDD 0 genome.wustl.edu 37 11 800556 800556 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 800556 800556 G A SNP PIDD ENST00000347755 human ensembl 74_37 -1 known silent c.2028 p.I676 0.006 NULL pfam_Peptidase_S68_pidd,pfam_Death_domain,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5 - no_errors PIDD HGNC ENSG00000177595 54 0 0 36 16 30.7692 ANKRD42 0 genome.wustl.edu 37 11 82947533 82947533 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 82947533 82947533 C A SNP ANKRD42 ENST00000393392 human ensembl 74_37 +1 known missense c.917 p.P306H 1.000 superfamily_Ankyrin_rpt-contain_dom,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 ANKRD42 HGNC ENSG00000137494 24 0 0 12 10 45.4545 EFCAB4A 0 genome.wustl.edu 37 11 831623 831623 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 831623 831623 C T SNP EFCAB4A ENST00000525077 human ensembl 74_37 +1 novel missense c.1114 p.R372C 0.000 NULL pfscan_EF_hand_dom - no_errors EFCAB4A HGNC ENSG00000177685 13 0 0 9 7 43.75 TYR 0 genome.wustl.edu 37 11 88911656 88911656 + Missense_Mutation SNP A A T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 88911656 88911656 A T SNP TYR ENST00000263321 human ensembl 74_37 +1 known missense c.535 p.M179L 1.000 pfam_Tyrosinase,superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC ENSG00000077498 186 0 0 104 35 25.1799 FAT3 0 genome.wustl.edu 37 11 92600035 92600035 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 92600035 92600035 G A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.11787 p.T3929 0.246 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G 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 28 0 0 25 13 34.2105 HEPHL1 0 genome.wustl.edu 37 11 93844981 93844981 + Missense_Mutation SNP C C G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 93844981 93844981 C G SNP HEPHL1 ENST00000315765 human ensembl 74_37 +1 known missense c.3401 p.S1134C 0.000 NULL pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPHL1 HGNC ENSG00000181333 211 0 0 107 60 35.9281 CLEC12B 0 genome.wustl.edu 37 12 10163381 10163381 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 10163381 10163381 C T SNP CLEC12B ENST00000338896 human ensembl 74_37 +1 known missense c.23 p.A8V 0.240 NULL pfam_C-type_lectin,pfam_Ly49,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC12B HGNC ENSG00000256660 54 0 0 22 11 33.3333 KLRK1 0 genome.wustl.edu 37 12 10532363 10532363 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 10532363 10532363 G A SNP KLRK1 ENST00000240618 human ensembl 74_37 -1 known silent c.177 p.I59 0.408 pfam_Herpes_UL45-like pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors KLRK1 HGNC ENSG00000213809 45 0 0 19 6 24 KIAA1033 0 genome.wustl.edu 37 12 105535024 105535024 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 105535024 105535024 G A SNP KIAA1033 ENST00000332180 human ensembl 74_37 +1 known missense c.1787 p.R596Q 1.000 NULL NULL - no_errors KIAA1033 HGNC ENSG00000136051 114 0 0 80 31 27.9279 USP30 0 genome.wustl.edu 37 12 109509471 109509471 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 109509471 109509471 C T SNP USP30 ENST00000257548 human ensembl 74_37 +1 known missense c.535 p.R179C 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP30 HGNC ENSG00000135093 63 0 0 37 19 33.9286 ACACB 0 genome.wustl.edu 37 12 109703279 109703279 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 109703279 109703279 G A SNP ACACB ENST00000338432 human ensembl 74_37 +1 known missense c.7199 p.R2400H 0.619 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 30 0 0 25 19 43.1818 GPN3 0 genome.wustl.edu 37 12 110902984 110902984 + Silent SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 110902984 110902984 T C SNP GPN3 ENST00000543199 human ensembl 74_37 -1 known silent c.201 p.E67 1.000 pfam_Uncharacterised_ATP-bd,superfamily_P-loop_NTPase pfam_Uncharacterised_ATP-bd,superfamily_P-loop_NTPase - no_errors GPN3 HGNC ENSG00000111231 98 0 0 42 26 38.2353 MAPKAPK5 0 genome.wustl.edu 37 12 112323793 112323793 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 112323793 112323793 G A SNP MAPKAPK5 ENST00000551404 human ensembl 74_37 +1 known missense c.922 p.E308K 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAPKAPK5 HGNC ENSG00000089022 111 0 0 61 45 42.4528 NAA25 0 genome.wustl.edu 37 12 112480910 112480910 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 112480910 112480910 G A SNP NAA25 ENST00000261745 human ensembl 74_37 -1 known silent c.2356 p.L786 1.000 NULL pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 70 0 0 28 23 45.098 RASAL1 0 genome.wustl.edu 37 12 113541998 113541998 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 113541998 113541998 C A SNP RASAL1 ENST00000546530 human ensembl 74_37 -1 known missense c.1939 p.G647W 0.925 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology 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 - no_errors RASAL1 HGNC ENSG00000111344 33 0 0 28 2 6.66667 NOS1 0 genome.wustl.edu 37 12 117660629 117660629 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 117660629 117660629 C T SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.3866 p.R1289Q 1.000 pfam_OxRdtase_FAD/NAD-bd,pirsf_NOS_euk,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase 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 136 0 0 81 43 34.6774 NOS1 0 genome.wustl.edu 37 12 117672531 117672531 + Missense_Mutation SNP T T A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 117672531 117672531 T A SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.3074 p.N1025I 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 31 0 0 29 11 27.5 HSPB8 0 genome.wustl.edu 37 12 119617264 119617264 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 119617264 119617264 C T SNP HSPB8 ENST00000281938 human ensembl 74_37 +1 known silent c.147 p.P49 0.034 NULL pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors HSPB8 HGNC ENSG00000152137 233 0 0 198 58 22.6562 CCDC60 0 genome.wustl.edu 37 12 119966530 119966530 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 119966530 119966530 C T SNP CCDC60 ENST00000327554 human ensembl 74_37 +1 known missense c.1340 p.A447V 0.986 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 116 0 0 57 26 31.3253 HNF1A 0 genome.wustl.edu 37 12 121434123 121434123 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 121434123 121434123 C T SNP HNF1A ENST00000538646 human ensembl 74_37 +1 known missense c.827 p.A276V 0.032 NULL pfam_HNF-1_N,superfamily_Lambda_DNA-bd_dom,superfamily_HNF1_dimer_dom - no_errors HNF1A HGNC ENSG00000135100 129 0 0 93 64 40.7643 KNTC1 0 genome.wustl.edu 37 12 123099621 123099621 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 123099621 123099621 G A SNP KNTC1 ENST00000333479 human ensembl 74_37 +1 known silent c.5961 p.L1987 0.279 pfam_RZZ-complex_KNTC1/ROD_C pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 24 0 0 11 6 35.2941 MPHOSPH9 0 genome.wustl.edu 37 12 123687615 123687615 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 123687615 123687615 G T SNP MPHOSPH9 ENST00000392425 human ensembl 74_37 -1 known missense c.881 p.P294H 0.980 NULL superfamily_Prefoldin - no_errors MPHOSPH9 HGNC ENSG00000051825 130 1 0.763359 83 30 26.5487 TMEM132D 0 genome.wustl.edu 37 12 129559375 129559375 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 129559375 129559375 C T SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known missense c.2345 p.R782Q 1.000 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 117 0 0 68 40 37.037 GPR133 0 genome.wustl.edu 37 12 131487823 131487823 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 131487823 131487823 G T SNP GPR133 ENST00000261654 human ensembl 74_37 +1 known missense c.1120 p.V374L 0.008 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR133 HGNC ENSG00000111452 102 0 0 70 42 37.5 SFSWAP 0 genome.wustl.edu 37 12 132199409 132199409 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 132199409 132199409 G T SNP SFSWAP ENST00000261674 human ensembl 74_37 +1 known missense c.431 p.G144V 1.000 pfam_SWAP_N_domain pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC ENSG00000061936 86 0 0 84 7 7.69231 POLE 0 genome.wustl.edu 37 12 133241895 133241895 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 133241895 133241895 G A SNP POLE ENST00000320574 human ensembl 74_37 -1 known missense c.2461 p.R821C 1.000 pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B 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 194 0 0 118 73 38.2199 GOLGA3 0 genome.wustl.edu 37 12 133360752 133360752 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 133360752 133360752 C T SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known missense c.3265 p.E1089K 1.000 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 42 0 0 39 14 26.4151 CHFR 0 genome.wustl.edu 37 12 133428223 133428223 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 133428223 133428223 C T SNP CHFR ENST00000266880 human ensembl 74_37 -1 known silent c.1506 p.P502 0.025 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pfscan_FHA_dom,pfscan_Znf_RING - no_errors CHFR HGNC ENSG00000072609 195 0 0 145 89 38.0342 PTPRO 0 genome.wustl.edu 37 12 15654773 15654773 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 15654773 15654773 C T SNP PTPRO ENST00000281171 human ensembl 74_37 +1 known missense c.881 p.T294M 0.948 NULL 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 PTPRO HGNC ENSG00000151490 40 0 0 35 13 27.0833 STRAP 0 genome.wustl.edu 37 12 16042873 16042873 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 16042873 16042873 A G SNP STRAP ENST00000025399 human ensembl 74_37 +1 known missense c.299 p.D100G 1.000 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 STRAP HGNC ENSG00000023734 60 0 0 38 21 35.5932 CMAS 0 genome.wustl.edu 37 12 22218104 22218104 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 22218104 22218104 C T SNP CMAS ENST00000229329 human ensembl 74_37 +1 known silent c.1164 p.G388 0.006 superfamily_HAD-like_dom pfam_Cytidylyl_trans,superfamily_HAD-like_dom - no_errors CMAS HGNC ENSG00000111726 160 0 0 94 64 40.5063 ITPR2 0 genome.wustl.edu 37 12 26568380 26568380 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 26568380 26568380 C T SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known missense c.7162 p.V2388I 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 ITPR2 HGNC ENSG00000123104 142 1 0.699301 86 51 37.2263 FOXM1 0 genome.wustl.edu 37 12 2981273 2981273 + Nonsense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 2981273 2981273 G A SNP FOXM1 ENST00000342628 human ensembl 74_37 -1 known nonsense c.643 p.R215* 0.698 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXM1 HGNC ENSG00000111206 425 0 0 257 145 36.0697 CAPRIN2 0 genome.wustl.edu 37 12 30863196 30863196 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 30863196 30863196 C T SNP CAPRIN2 ENST00000251071 human ensembl 74_37 -1 known silent c.3024 p.L1008 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CAPRIN2 HGNC ENSG00000110888 137 0 0 95 51 34.9315 ALG10B 0 genome.wustl.edu 37 12 38714014 38714014 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 38714014 38714014 C T SNP ALG10B ENST00000308742 human ensembl 74_37 +1 known missense c.421 p.P141S 1.000 pfam_Alg10,pirsf_Alg10 pfam_Alg10,pirsf_Alg10 - no_errors ALG10B HGNC ENSG00000175548 113 0 0 53 16 23.1884 SLC38A2 0 genome.wustl.edu 37 12 46758904 46758904 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 46758904 46758904 A G SNP SLC38A2 ENST00000256689 human ensembl 74_37 -1 known missense c.632 p.L211P 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A2 HGNC ENSG00000134294 100 0 0 72 32 30.7692 NDUFA9 0 genome.wustl.edu 37 12 4764054 4764054 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 4764054 4764054 G A SNP NDUFA9 ENST00000266544 human ensembl 74_37 +1 known missense c.284 p.R95H 0.993 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_NmrA pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_NmrA - no_errors NDUFA9 HGNC ENSG00000139180 60 0 0 38 11 22.449 DHH 0 genome.wustl.edu 37 12 49485071 49485071 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 49485071 49485071 G A SNP DHH ENST00000266991 human ensembl 74_37 -1 known silent c.405 p.H135 1.000 pfam_Hedgehog_signaling_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,pirsf_Hedgehog,prints_Hedgehog pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,pirsf_Hedgehog,prints_Hedgehog - no_errors DHH HGNC ENSG00000139549 111 0 0 84 44 34.375 C1QL4 0 genome.wustl.edu 37 12 49729949 49729949 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 49729949 49729949 G A SNP C1QL4 ENST00000334221 human ensembl 74_37 -1 known silent c.312 p.A104 0.024 smart_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL4 HGNC ENSG00000186897 31 0 0 23 6 20.6897 DIP2B 0 genome.wustl.edu 37 12 51117073 51117073 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 51117073 51117073 G A SNP DIP2B ENST00000301180 human ensembl 74_37 +1 known silent c.3255 p.T1085 0.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 101 0 0 56 34 37.7778 GALNT6 0 genome.wustl.edu 37 12 51751183 51751183 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 51751183 51751183 C T SNP GALNT6 ENST00000356317 human ensembl 74_37 -1 known missense c.1552 p.G518R 0.968 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT6 HGNC ENSG00000139629 78 0 0 71 33 31.7308 KRT6A 0 genome.wustl.edu 37 12 52884727 52884727 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 52884727 52884727 G A SNP KRT6A ENST00000330722 human ensembl 74_37 -1 known missense c.827 p.A276V 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6A HGNC ENSG00000205420 52 0 0 35 22 38.5965 LOC100127967 0 genome.wustl.edu 37 12 53004853 53004853 + RNA SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 53004853 53004853 T C SNP LOC100127967 ENST00000552364 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-641A6.2 Clone_based_vega_gene ENSG00000257495 24 0 0 17 10 37.037 CCDC77 0 genome.wustl.edu 37 12 550953 550953 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 550953 550953 C T SNP CCDC77 ENST00000239830 human ensembl 74_37 +1 known missense c.1334 p.A445V 0.000 NULL NULL - no_errors CCDC77 HGNC ENSG00000120647 88 0 0 54 35 39.3258 TESPA1 0 genome.wustl.edu 37 12 55356262 55356262 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 55356262 55356262 G A SNP TESPA1 ENST00000316577 human ensembl 74_37 -1 known missense c.1420 p.R474C 0.001 NULL NULL - no_errors TESPA1 HGNC ENSG00000135426 220 0 0 120 69 36.5079 ITGA7 0 genome.wustl.edu 37 12 56091499 56091499 + Silent SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 56091499 56091499 A G SNP ITGA7 ENST00000555728 human ensembl 74_37 -1 known silent c.1521 p.A507 0.297 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 84 0 0 94 13 12.1495 DGKA 0 genome.wustl.edu 37 12 56346914 56346914 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 56346914 56346914 G A SNP DGKA ENST00000331886 human ensembl 74_37 +1 known missense c.2033 p.R678Q 1.000 pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory 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 DGKA HGNC ENSG00000065357 110 0 0 72 26 26.5306 ERBB3 0 genome.wustl.edu 37 12 56482607 56482607 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 56482607 56482607 C T SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.1064 p.T355I 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_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 189 0 0 104 53 33.758 NABP2 0 genome.wustl.edu 37 12 56619283 56619283 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 56619283 56619283 G A SNP NABP2 ENST00000267023 human ensembl 74_37 +1 known missense c.206 p.R69Q 1.000 pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold - no_errors NABP2 HGNC ENSG00000139579 98 0 0 68 26 27.6596 IL23A 0 genome.wustl.edu 37 12 56733791 56733791 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 56733791 56733791 G A SNP IL23A ENST00000228534 human ensembl 74_37 +1 known missense c.473 p.R158H 0.994 pfam_IL-6/IL-23/GCSF/MGF,superfamily_4_helix_cytokine-like_core pfam_IL-6/IL-23/GCSF/MGF,superfamily_4_helix_cytokine-like_core - no_errors IL23A HGNC ENSG00000110944 145 0 0 106 66 38.3721 GPR182 0 genome.wustl.edu 37 12 57389178 57389178 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 57389178 57389178 C T SNP GPR182 ENST00000300098 human ensembl 74_37 +1 known missense c.185 p.A62V 0.998 prints_GPCR_Rhodpsn,prints_ATII_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_G10D_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors GPR182 HGNC ENSG00000166856 200 0 0 119 75 38.6598 KIF5A 0 genome.wustl.edu 37 12 57963431 57963431 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 57963431 57963431 C T SNP KIF5A ENST00000455537 human ensembl 74_37 +1 known missense c.1082 p.A361V 0.994 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5A HGNC ENSG00000155980 64 0 0 34 22 39.2857 KIF5A 0 genome.wustl.edu 37 12 57965968 57965968 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 57965968 57965968 T C SNP KIF5A ENST00000455537 human ensembl 74_37 +1 known missense c.1487 p.V496A 0.815 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5A HGNC ENSG00000155980 26 0 0 14 12 46.1538 PIP4K2C 0 genome.wustl.edu 37 12 57994645 57994645 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 57994645 57994645 G A SNP PIP4K2C ENST00000354947 human ensembl 74_37 +1 known missense c.865 p.D289N 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP4K2C HGNC ENSG00000166908 335 0 0 325 19 5.52326 LRIG3 0 genome.wustl.edu 37 12 59267917 59267917 + Missense_Mutation SNP T T A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 59267917 59267917 T A SNP LRIG3 ENST00000320743 human ensembl 74_37 -1 known missense c.3035 p.N1012I 0.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG3 HGNC ENSG00000139263 69 0 0 63 4 5.97015 VAMP1 0 genome.wustl.edu 37 12 6571964 6571964 + RNA SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 6571964 6571964 G A SNP VAMP1 ENST00000544432 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors VAMP1 HGNC ENSG00000139190 19 0 0 12 5 29.4118 IFFO1 0 genome.wustl.edu 37 12 6649716 6649716 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 6649716 6649716 G T SNP IFFO1 ENST00000356896 human ensembl 74_37 -1 known missense c.1625 p.P542Q 1.000 NULL NULL - no_errors IFFO1 HGNC ENSG00000010295 98 0 0 61 20 24.6914 IFFO1 0 genome.wustl.edu 37 12 6650743 6650743 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 6650743 6650743 G A SNP IFFO1 ENST00000356896 human ensembl 74_37 -1 known silent c.1521 p.S507 1.000 NULL NULL - no_errors IFFO1 HGNC ENSG00000010295 123 0 0 107 47 30.5195 NOP2 0 genome.wustl.edu 37 12 6672657 6672657 + Nonsense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 6672657 6672657 G A SNP NOP2 ENST00000322166 human ensembl 74_37 -1 known nonsense c.712 p.R238* 0.007 NULL pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p - no_errors NOP2 HGNC ENSG00000111641 22 0 0 14 7 33.3333 CHD4 0 genome.wustl.edu 37 12 6682399 6682399 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 6682399 6682399 G A SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known missense c.5482 p.R1828C 1.000 pfam_CHD_C2 pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 99 0 0 53 28 34.5679 CHD4 0 genome.wustl.edu 37 12 6691863 6691863 + Nonsense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 6691863 6691863 G A SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known nonsense c.4372 p.R1458* 1.000 pfam_DUF1086,superfamily_Homeodomain-like pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 180 1 0.552486 149 50 25.1256 DYRK2 0 genome.wustl.edu 37 12 68051469 68051469 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 68051469 68051469 G A SNP DYRK2 ENST00000344096 human ensembl 74_37 +1 known missense c.782 p.R261Q 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 DYRK2 HGNC ENSG00000127334 94 0 0 76 32 29.6296 KCNC2 0 genome.wustl.edu 37 12 75601598 75601598 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 75601598 75601598 G A SNP KCNC2 ENST00000549446 human ensembl 74_37 -1 known missense c.166 p.P56S 0.993 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like 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 29 0 0 31 19 38 CD163L1 0 genome.wustl.edu 37 12 7586129 7586129 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 7586129 7586129 C T SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known missense c.286 p.A96T 0.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 91 0 0 69 20 22.4719 KRR1 0 genome.wustl.edu 37 12 75900336 75900336 + Silent SNP A A C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 75900336 75900336 A C SNP KRR1 ENST00000229214 human ensembl 74_37 -1 known silent c.447 p.S149 1.000 smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom - no_errors KRR1 HGNC ENSG00000111615 85 0 0 35 6 14.6341 AICDA 0 genome.wustl.edu 37 12 8757859 8757859 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 8757859 8757859 G A SNP AICDA ENST00000229335 human ensembl 74_37 -1 known missense c.379 p.R127W 0.981 pfam_APOBEC_C,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors AICDA HGNC ENSG00000111732 47 0 0 23 9 28.125 PHC1 0 genome.wustl.edu 37 12 9083336 9083336 + Silent SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 9083336 9083336 A G SNP PHC1 ENST00000543824 human ensembl 74_37 +1 known silent c.918 p.R306 1.000 NULL pfam_SAM_type1,pfam_SAM_2,pfam_Znf_MYM,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC1 HGNC ENSG00000111752 14 0 0 10 6 37.5 PLXNC1 0 genome.wustl.edu 37 12 94543038 94543038 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 94543038 94543038 G A SNP PLXNC1 ENST00000258526 human ensembl 74_37 +1 known silent c.291 p.A97 1.000 superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNC1 HGNC ENSG00000136040 12 0 0 11 11 50 CCDC41 0 genome.wustl.edu 37 12 94725550 94725550 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 94725550 94725550 G A SNP CCDC41 ENST00000339839 human ensembl 74_37 -1 known missense c.1633 p.R545C 0.976 NULL NULL - no_errors CCDC41 HGNC ENSG00000173588 158 1 0.628931 92 14 13.2075 CCDC38 0 genome.wustl.edu 37 12 96300224 96300224 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 96300224 96300224 C T SNP CCDC38 ENST00000344280 human ensembl 74_37 -1 known missense c.310 p.D104N 0.968 NULL NULL - no_errors CCDC38 HGNC ENSG00000165972 67 0 0 33 13 28.2609 NALCN 0 genome.wustl.edu 37 13 101714451 101714451 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 13 101714451 101714451 C T SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.4624 p.V1542M 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 44 0 0 26 16 38.0952 ATP4B 0 genome.wustl.edu 37 13 114307279 114307279 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 13 114307279 114307279 G A SNP ATP4B ENST00000335288 human ensembl 74_37 -1 known missense c.464 p.T155M 0.832 pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta - no_errors ATP4B HGNC ENSG00000186009 74 0 0 49 29 37.1795 TUBA3C 0 genome.wustl.edu 37 13 19751183 19751183 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 13 19751183 19751183 C T SNP TUBA3C ENST00000400113 human ensembl 74_37 -1 known missense c.940 p.A314T 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,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3C HGNC ENSG00000198033 183 0 0 160 68 29.8246 SPATA13 0 genome.wustl.edu 37 13 24876890 24876890 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 13 24876890 24876890 G A SNP SPATA13 ENST00000382108 human ensembl 74_37 +1 known silent c.3813 p.R1271 0.301 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors SPATA13 HGNC ENSG00000182957 146 0 0 94 57 37.7483 RNF6 0 genome.wustl.edu 37 13 26792713 26792713 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 13 26792713 26792713 C T SNP RNF6 ENST00000346166 human ensembl 74_37 -1 known missense c.224 p.R75Q 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF6 HGNC ENSG00000127870 166 0 0 72 24 25 FLT3 0 genome.wustl.edu 37 13 28608309 28608309 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 13 28608309 28608309 C T SNP FLT3 ENST00000380982 human ensembl 74_37 -1 known missense c.1747 p.G583S 0.996 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FLT3 HGNC ENSG00000122025 38 0 0 25 9 26.4706 FLT1 0 genome.wustl.edu 37 13 28895660 28895660 + Silent SNP A A T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 13 28895660 28895660 A T SNP FLT1 ENST00000282397 human ensembl 74_37 -1 known silent c.3114 p.I1038 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 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 87 0 0 38 24 38.7097 FLT1 0 genome.wustl.edu 37 13 29001366 29001366 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 13 29001366 29001366 C T SNP FLT1 ENST00000282397 human ensembl 74_37 -1 known missense c.1366 p.A456T 0.001 smart_Ig_sub,pfscan_Ig-like_dom 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 122 0 0 89 6 6.31579 KL 0 genome.wustl.edu 37 13 33591206 33591206 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 13 33591206 33591206 C T SNP KL ENST00000380099 human ensembl 74_37 +1 known missense c.628 p.R210C 0.996 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 20 0 0 13 15 53.5714 PROSER1 0 genome.wustl.edu 37 13 39587976 39587976 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 13 39587976 39587976 C T SNP PROSER1 ENST00000352251 human ensembl 74_37 -1 known silent c.1413 p.A471 0.001 NULL NULL - no_errors PROSER1 HGNC ENSG00000120685 73 0 0 76 8 9.52381 PCDH8 0 genome.wustl.edu 37 13 53420431 53420431 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 13 53420431 53420431 C T SNP PCDH8 ENST00000377942 human ensembl 74_37 -1 known missense c.2141 p.G714D 0.909 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH8 HGNC ENSG00000136099 17 0 0 14 7 33.3333 EDNRB 0 genome.wustl.edu 37 13 78493582 78493582 + Nonsense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 13 78493582 78493582 C A SNP EDNRB ENST00000377211 human ensembl 74_37 -1 putative nonsense c.169 p.G57* 0.000 NULL 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 99 0 0 41 31 43.0556 SLITRK5 0 genome.wustl.edu 37 13 88328753 88328753 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 13 88328753 88328753 G A SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known silent c.1110 p.V370 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 102 0 0 68 24 26.087 SLITRK5 0 genome.wustl.edu 37 13 88329438 88329438 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 13 88329438 88329438 G A SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.1795 p.A599T 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 215 0 0 165 86 34.2629 MIR17HG 0 genome.wustl.edu 37 13 92002887 92002887 + RNA SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 13 92002887 92002887 G A SNP MIR17HG ENST00000385012 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR17HG HGNC ENSG00000215417 124 0 0 64 36 36 GPC5 0 genome.wustl.edu 37 13 92101090 92101090 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 13 92101090 92101090 C T SNP GPC5 ENST00000377067 human ensembl 74_37 +1 known missense c.239 p.A80V 0.715 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 153 1 0.649351 60 35 36.8421 FARP1 0 genome.wustl.edu 37 13 98865614 98865614 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 13 98865614 98865614 G A SNP FARP1 ENST00000376586 human ensembl 74_37 +1 known missense c.118 p.V40M 0.992 smart_Band_41_domain,pfscan_FERM_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 269 0 0 237 124 34.349 DYNC1H1 0 genome.wustl.edu 37 14 102494016 102494016 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 102494016 102494016 G A SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.9109 p.A3037T 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 63 0 0 41 16 28.0702 DYNC1H1 0 genome.wustl.edu 37 14 102502908 102502908 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 102502908 102502908 A G SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.10837 p.S3613G 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 131 0 0 58 45 43.6893 AMN 0 genome.wustl.edu 37 14 103390134 103390134 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 103390134 103390134 G A SNP AMN ENST00000299155 human ensembl 74_37 +1 known missense c.130 p.A44T 0.892 NULL NULL - no_errors AMN HGNC ENSG00000166126 90 0 0 68 37 35.2381 CDC42BPB 0 genome.wustl.edu 37 14 103440432 103440432 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 103440432 103440432 C T SNP CDC42BPB ENST00000361246 human ensembl 74_37 -1 known missense c.1562 p.R521H 0.984 NULL pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,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,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC ENSG00000198752 71 0 0 45 25 35.7143 PLD4 0 genome.wustl.edu 37 14 105397224 105397224 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 105397224 105397224 G A SNP PLD4 ENST00000392593 human ensembl 74_37 +1 known missense c.863 p.R288H 0.062 NULL pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase - no_errors PLD4 HGNC ENSG00000166428 181 0 0 122 72 37.1134 AHNAK2 0 genome.wustl.edu 37 14 105412000 105412000 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 105412000 105412000 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.9788 p.T3263M 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 159 0 0 131 36 21.5569 AHNAK2 0 genome.wustl.edu 37 14 105412495 105412495 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 105412495 105412495 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.9293 p.T3098M 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 222 1 0.44843 194 68 25.9542 POTEM 0 genome.wustl.edu 37 14 20019842 20019842 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 20019842 20019842 C T SNP POTEM ENST00000547848 human ensembl 74_37 -1 known missense c.379 p.A127T 0.005 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEM HGNC ENSG00000187537 241 0 0 255 86 25.2199 RNASE10 0 genome.wustl.edu 37 14 20978876 20978876 + Silent SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 20978876 20978876 A G SNP RNASE10 ENST00000328444 human ensembl 74_37 +1 known silent c.246 p.E82 0.398 NULL pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE10 HGNC ENSG00000182545 51 0 0 43 23 34.8485 C14orf93 0 genome.wustl.edu 37 14 23458986 23458986 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 23458986 23458986 G A SNP C14orf93 ENST00000299088 human ensembl 74_37 -1 known missense c.1049 p.T350I 1.000 NULL NULL - no_errors C14orf93 HGNC ENSG00000100802 112 0 0 36 21 36.8421 CDH24 0 genome.wustl.edu 37 14 23518336 23518336 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 23518336 23518336 G A SNP CDH24 ENST00000267383 human ensembl 74_37 -1 known silent c.1860 p.D620 0.976 pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH24 HGNC ENSG00000139880 13 0 0 8 8 50 IL25 0 genome.wustl.edu 37 14 23844958 23844958 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 23844958 23844958 C T SNP IL25 ENST00000329715 human ensembl 74_37 +1 known missense c.403 p.H135Y 1.000 pfam_IL-17_fam pfam_IL-17_fam - no_errors IL25 HGNC ENSG00000166090 114 0 0 116 7 5.69106 MYH7 0 genome.wustl.edu 37 14 23884369 23884369 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 23884369 23884369 G A SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known silent c.5394 p.D1798 0.999 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 142 0 0 101 52 33.9869 PRKD1 0 genome.wustl.edu 37 14 30194878 30194878 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 30194878 30194878 G T SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known missense c.267 p.F89L 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 64 0 0 58 6 9.375 TRIM9 0 genome.wustl.edu 37 14 51467458 51467458 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 51467458 51467458 C T SNP TRIM9 ENST00000338969 human ensembl 74_37 -1 known silent c.1395 p.T465 0.227 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,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 - no_errors TRIM9 HGNC ENSG00000100505 46 0 0 27 18 40 TRIM9 0 genome.wustl.edu 37 14 51477173 51477173 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 51477173 51477173 G A SNP TRIM9 ENST00000338969 human ensembl 74_37 -1 known missense c.1081 p.R361C 1.000 smart_Bbox_C pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,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 - no_errors TRIM9 HGNC ENSG00000100505 125 0 0 68 27 28.4211 TRIM9 0 genome.wustl.edu 37 14 51561501 51561501 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 51561501 51561501 C T SNP TRIM9 ENST00000338969 human ensembl 74_37 -1 known missense c.157 p.A53T 1.000 smart_Znf_RING pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,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 - no_errors TRIM9 HGNC ENSG00000100505 31 0 0 26 10 27.7778 PTGER2 0 genome.wustl.edu 37 14 52781592 52781592 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 52781592 52781592 G A SNP PTGER2 ENST00000245457 human ensembl 74_37 +1 known missense c.326 p.C109Y 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP2_rcpt,prints_Prostanoid_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP2_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn - no_errors PTGER2 HGNC ENSG00000125384 88 0 0 86 5 5.49451 SAMD4A 0 genome.wustl.edu 37 14 55169045 55169045 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 55169045 55169045 G A SNP SAMD4A ENST00000392067 human ensembl 74_37 +1 known silent c.462 p.T154 0.003 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4A HGNC ENSG00000020577 118 0 0 67 40 37.3832 TBPL2 0 genome.wustl.edu 37 14 55907244 55907244 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 55907244 55907244 G A SNP TBPL2 ENST00000247219 human ensembl 74_37 -1 known missense c.20 p.P7L 0.000 NULL pfam_TBP,prints_TBP - no_errors TBPL2 HGNC ENSG00000182521 47 0 0 31 22 41.5094 KTN1 0 genome.wustl.edu 37 14 56101377 56101377 + Splice_Site SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 56101377 56101377 G A SNP KTN1 ENST00000395309 human ensembl 74_37 +1 known splice_site c.1461+1 e8+1 1.000 - - - no_errors KTN1 HGNC ENSG00000126777 30 0 0 15 14 48.2759 SLC35F4 0 genome.wustl.edu 37 14 58063406 58063406 + Silent SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 58063406 58063406 T C SNP SLC35F4 ENST00000339762 human ensembl 74_37 -1 known silent c.210 p.L70 0.045 NULL pfam_DMT,pfam_SLC35_F1/F2/F6 - no_errors SLC35F4 HGNC ENSG00000151812 21 0 0 9 9 50 C14orf39 0 genome.wustl.edu 37 14 60938346 60938346 + Silent SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 60938346 60938346 A G SNP C14orf39 ENST00000321731 human ensembl 74_37 -1 known silent c.435 p.H145 0.990 NULL NULL - no_errors C14orf39 HGNC ENSG00000179008 41 0 0 17 3 15 SGPP1 0 genome.wustl.edu 37 14 64153092 64153092 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 64153092 64153092 C T SNP SGPP1 ENST00000247225 human ensembl 74_37 -1 known missense c.1057 p.A353T 0.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors SGPP1 HGNC ENSG00000126821 78 0 0 43 21 32.8125 HSPA2 0 genome.wustl.edu 37 14 65007663 65007663 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 65007663 65007663 C T SNP HSPA2 ENST00000247207 human ensembl 74_37 +1 known silent c.96 p.N32 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA2 HGNC ENSG00000126803 90 0 0 82 36 30.5085 GPHN 0 genome.wustl.edu 37 14 67490373 67490373 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 67490373 67490373 G T SNP GPHN ENST00000478722 human ensembl 74_37 +1 known missense c.987 p.K329N 1.000 NULL pfam_Mopterin-bd_dom,pfam_MoeA_linker/N,pfam_MoeA_C_domain_IV,superfamily_MoeA_linker/N,superfamily_Mopterin-bd_dom,superfamily_MoeA_C_domain_IV,smart_Mopterin-bd_dom,tigrfam_Mo_cofactor_synthesis - no_errors GPHN HGNC ENSG00000171723 73 0 0 42 4 8.69565 ACTN1 0 genome.wustl.edu 37 14 69341789 69341789 + Silent SNP G G C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 69341789 69341789 G C SNP ACTN1 ENST00000538545 human ensembl 74_37 -1 novel silent c.2580 p.R860 0.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN1 HGNC ENSG00000072110 12 0 0 15 5 25 PSEN1 0 genome.wustl.edu 37 14 73637650 73637650 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 73637650 73637650 G A SNP PSEN1 ENST00000324501 human ensembl 74_37 +1 known missense c.233 p.G78D 1.000 pfam_Peptidase_A22A pfam_Peptidase_A22A,smart_Preselin/SPP,prints_Pept_A22A_PS1,prints_Peptidase_A22A - no_errors PSEN1 HGNC ENSG00000080815 65 0 0 31 19 38 PAPLN 0 genome.wustl.edu 37 14 73730965 73730965 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 73730965 73730965 G A SNP PAPLN ENST00000427855 human ensembl 74_37 +1 known missense c.2908 p.A970T 0.008 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m - no_errors PAPLN HGNC ENSG00000100767 103 0 0 99 48 32.6531 ENTPD5 0 genome.wustl.edu 37 14 74454592 74454592 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 74454592 74454592 G A SNP ENTPD5 ENST00000334696 human ensembl 74_37 -1 known missense c.214 p.P72S 0.655 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD5 HGNC ENSG00000187097 26 0 0 31 15 32.6087 VSX2 0 genome.wustl.edu 37 14 74726453 74726453 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 74726453 74726453 G A SNP VSX2 ENST00000261980 human ensembl 74_37 +1 known missense c.728 p.G243D 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors VSX2 HGNC ENSG00000119614 51 0 0 55 21 27.6316 LTBP2 0 genome.wustl.edu 37 14 74973512 74973512 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 74973512 74973512 C T SNP LTBP2 ENST00000261978 human ensembl 74_37 -1 known missense c.3922 p.A1308T 0.997 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,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 60 0 0 31 21 40.3846 NEK9 0 genome.wustl.edu 37 14 75558161 75558161 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 75558161 75558161 C T SNP NEK9 ENST00000238616 human ensembl 74_37 -1 known missense c.2254 p.G752R 1.000 NULL pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_RCC1/BLIP-II,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK9 HGNC ENSG00000119638 59 0 0 37 10 21.2766 NRXN3 0 genome.wustl.edu 37 14 79433671 79433671 + Silent SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 79433671 79433671 T C SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known silent c.2865 p.T955 0.961 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,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 62 0 0 29 21 42 NRXN3 0 genome.wustl.edu 37 14 79434665 79434665 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 79434665 79434665 G A SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.3085 p.G1029R 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 83 0 0 51 26 33.7662 NRXN3 0 genome.wustl.edu 37 14 80319917 80319917 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 80319917 80319917 G A SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.4105 p.A1369T 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 151 1 0.657895 106 68 39.0805 TDP1 0 genome.wustl.edu 37 14 90485721 90485721 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 90485721 90485721 C T SNP TDP1 ENST00000335725 human ensembl 74_37 +1 known missense c.1603 p.R535C 1.000 pfam_Tyr-DNA_phospho pfam_Tyr-DNA_phospho - no_errors TDP1 HGNC ENSG00000042088 65 0 0 26 17 39.5349 CCDC88C 0 genome.wustl.edu 37 14 91739837 91739837 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 91739837 91739837 G A SNP CCDC88C ENST00000389857 human ensembl 74_37 -1 known missense c.5219 p.S1740L 0.003 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 38 0 0 32 3 8.57143 TC2N 0 genome.wustl.edu 37 14 92266680 92266680 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 92266680 92266680 G T SNP TC2N ENST00000340892 human ensembl 74_37 -1 known missense c.506 p.P169H 0.996 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors TC2N HGNC ENSG00000165929 50 0 0 28 8 22.2222 OTUB2 0 genome.wustl.edu 37 14 94510329 94510329 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 94510329 94510329 C T SNP OTUB2 ENST00000203664 human ensembl 74_37 +1 known silent c.231 p.R77 0.895 pfam_Peptidase_C65_otubain,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU pfam_Peptidase_C65_otubain,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU - no_errors OTUB2 HGNC ENSG00000089723 272 0 0 136 66 32.6733 SERPINA13P 0 genome.wustl.edu 37 14 95109963 95109963 + RNA SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 95109963 95109963 C T SNP SERPINA13P ENST00000469935 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors SERPINA13P HGNC ENSG00000187483 63 0 0 46 20 30.303 BCL11B 0 genome.wustl.edu 37 14 99642456 99642456 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 99642456 99642456 G A SNP BCL11B ENST00000357195 human ensembl 74_37 -1 known silent c.717 p.H239 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11B HGNC ENSG00000127152 33 0 0 31 8 20.5128 CHEK2P2 0 genome.wustl.edu 37 15 20488875 20488875 + RNA SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 20488875 20488875 G A SNP CHEK2P2 ENST00000555186 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CHEK2P2 HGNC ENSG00000259156 155 0 0 125 20 13.7931 HERC2P3 0 genome.wustl.edu 37 15 20644760 20644760 + Splice_Site SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 20644760 20644760 C A SNP HERC2P3 ENST00000426501 human ensembl 74_37 -1 known splice_site c.NULL NULL 1.000 - - - no_errors HERC2P3 HGNC ENSG00000180229 15 0 0 11 4 26.6667 NIPA2 0 genome.wustl.edu 37 15 23006790 23006790 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 23006790 23006790 G A SNP NIPA2 ENST00000337451 human ensembl 74_37 -1 known missense c.514 p.R172C 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPA2 HGNC ENSG00000140157 80 0 0 45 24 34.7826 SNHG14 0 genome.wustl.edu 37 15 25490537 25490537 + RNA SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 25490537 25490537 C T SNP SNHG14 ENST00000453082 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 76 0 0 66 35 34.6535 HERC2 0 genome.wustl.edu 37 15 28369270 28369270 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 28369270 28369270 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.13101 p.F4367 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 96 0 0 68 24 26.087 HERC2 0 genome.wustl.edu 37 15 28478342 28478342 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 28478342 28478342 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.4625 p.R1542H 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 107 0 0 42 7 14.2857 TRPM1 0 genome.wustl.edu 37 15 31323347 31323347 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 31323347 31323347 A G SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known missense c.3017 p.L1006P 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 70 0 0 65 26 28.5714 RYR3 0 genome.wustl.edu 37 15 33876610 33876610 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 33876610 33876610 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.1588 p.G530R 1.000 pfam_Ca-rel_channel 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 19 0 0 22 6 21.4286 NUTM1 0 genome.wustl.edu 37 15 34645957 34645957 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 34645957 34645957 A G SNP NUTM1 ENST00000333756 human ensembl 74_37 +1 known missense c.875 p.E292G 1.000 NULL NULL - no_errors NUTM1 HGNC ENSG00000184507 103 0 0 52 27 34.1772 CSNK1A1P1 0 genome.wustl.edu 37 15 37110223 37110223 + RNA SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 37110223 37110223 G A SNP CSNK1A1P1 ENST00000430593 human ensembl 74_37 -1 known rna NULL NULL 0.993 - - - no_errors CSNK1A1P1 HGNC ENSG00000223518 48 0 0 50 14 21.875 GPR176 0 genome.wustl.edu 37 15 40094180 40094180 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 40094180 40094180 G A SNP GPR176 ENST00000561100 human ensembl 74_37 -1 known missense c.701 p.A234V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR176 HGNC ENSG00000166073 116 0 0 80 36 31.0345 MGA 0 genome.wustl.edu 37 15 42005391 42005391 + Nonsense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 42005391 42005391 C T SNP MGA ENST00000219905 human ensembl 74_37 +1 known nonsense c.3127 p.R1043* 1.000 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 107 0 0 57 38 40 MGA 0 genome.wustl.edu 37 15 42041948 42041948 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 42041948 42041948 C T SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.6143 p.S2048F 0.450 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 155 0 0 115 44 27.673 SPTBN5 0 genome.wustl.edu 37 15 42168400 42168400 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 42168400 42168400 C T SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known missense c.4034 p.R1345H 0.022 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 59 0 0 19 14 42.4242 SEMA6D 0 genome.wustl.edu 37 15 48063749 48063749 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 48063749 48063749 C T SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known missense c.2989 p.R997C 1.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 172 0 0 100 53 34.6405 FBN1 0 genome.wustl.edu 37 15 48888508 48888508 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 48888508 48888508 G A SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known silent c.510 p.Y170 0.991 smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom 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 104 0 0 49 26 34.6667 SLC27A2 0 genome.wustl.edu 37 15 50515313 50515313 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 50515313 50515313 C T SNP SLC27A2 ENST00000267842 human ensembl 74_37 +1 known missense c.1124 p.A375V 0.472 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A2 HGNC ENSG00000140284 77 0 0 41 9 18 USP8 0 genome.wustl.edu 37 15 50782631 50782631 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 50782631 50782631 C T SNP USP8 ENST00000307179 human ensembl 74_37 +1 known missense c.2143 p.R715C 1.000 NULL pfam_Peptidase_C19/C67,pfam_USP8_dimer,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_dom,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19/C67 - no_errors USP8 HGNC ENSG00000138592 148 0 0 98 56 36.3636 AP4E1 0 genome.wustl.edu 37 15 51291352 51291352 + Missense_Mutation SNP A A C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 51291352 51291352 A C SNP AP4E1 ENST00000261842 human ensembl 74_37 +1 known missense c.2988 p.K996N 0.996 pfam_Coatomer_bsu_C,pirsf_AP4_complex_esu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu - no_errors AP4E1 HGNC ENSG00000081014 54 0 0 18 15 45.4545 TMOD2 0 genome.wustl.edu 37 15 52058642 52058642 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 52058642 52058642 G A SNP TMOD2 ENST00000249700 human ensembl 74_37 +1 known missense c.4 p.A2T 1.000 pfam_Tropomodulin pfam_Tropomodulin - no_errors TMOD2 HGNC ENSG00000128872 60 0 0 42 4 8.69565 GNB5 0 genome.wustl.edu 37 15 52416738 52416738 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 52416738 52416738 C T SNP GNB5 ENST00000261837 human ensembl 74_37 -1 known missense c.1108 p.V370I 0.990 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep - no_errors GNB5 HGNC ENSG00000069966 98 0 0 69 49 41.5254 VPS13C 0 genome.wustl.edu 37 15 62182509 62182509 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 62182509 62182509 C T SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.9196 p.D3066N 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 78 0 0 34 14 29.1667 RAB8B 0 genome.wustl.edu 37 15 63551829 63551829 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 63551829 63551829 G A SNP RAB8B ENST00000321437 human ensembl 74_37 +1 known missense c.418 p.A140T 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,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 RAB8B HGNC ENSG00000166128 46 0 0 23 15 39.4737 RBPMS2 0 genome.wustl.edu 37 15 65041646 65041646 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 65041646 65041646 G A SNP RBPMS2 ENST00000300069 human ensembl 74_37 -1 known missense c.251 p.A84V 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBPMS2 HGNC ENSG00000166831 127 0 0 98 41 29.4964 CILP 0 genome.wustl.edu 37 15 65490415 65490415 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 65490415 65490415 G A SNP CILP ENST00000261883 human ensembl 74_37 -1 known missense c.2209 p.R737C 0.999 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP HGNC ENSG00000138615 203 0 0 130 57 30.4813 SKOR1 0 genome.wustl.edu 37 15 68120209 68120209 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 68120209 68120209 C T SNP SKOR1 ENST00000380035 human ensembl 74_37 +1 known silent c.2043 p.S681 0.000 NULL pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC ENSG00000188779 14 0 0 10 12 54.5455 UACA 0 genome.wustl.edu 37 15 70959701 70959701 + Nonsense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 70959701 70959701 G A SNP UACA ENST00000322954 human ensembl 74_37 -1 known nonsense c.3322 p.Q1108* 0.998 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 110 0 0 51 20 28.169 THSD4 0 genome.wustl.edu 37 15 72023519 72023519 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 72023519 72023519 C T SNP THSD4 ENST00000261862 human ensembl 74_37 +1 known silent c.1593 p.N531 0.849 NULL 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 68 0 0 57 27 32.1429 THSD4 0 genome.wustl.edu 37 15 72030245 72030245 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 72030245 72030245 C T SNP THSD4 ENST00000261862 human ensembl 74_37 +1 known missense c.1805 p.P602L 0.903 NULL 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 107 0 0 65 33 33.6735 NPTN 0 genome.wustl.edu 37 15 73889561 73889561 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 73889561 73889561 C A SNP NPTN ENST00000345330 human ensembl 74_37 -1 known missense c.241 p.G81C 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_MFS_dom_general_subst_transpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NPTN HGNC ENSG00000156642 72 0 0 69 29 29.5918 ARID3B 0 genome.wustl.edu 37 15 74883971 74883971 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 74883971 74883971 G T SNP ARID3B ENST00000346246 human ensembl 74_37 +1 known missense c.1236 p.Q412H 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3B HGNC ENSG00000179361 11 0 0 12 6 33.3333 CSK 0 genome.wustl.edu 37 15 75093411 75093411 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 75093411 75093411 G A SNP CSK ENST00000220003 human ensembl 74_37 +1 known missense c.781 p.G261R 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,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 CSK HGNC ENSG00000103653 186 0 0 116 33 22.1477 ADAMTS7 0 genome.wustl.edu 37 15 79092648 79092648 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 79092648 79092648 G A SNP ADAMTS7 ENST00000388820 human ensembl 74_37 -1 known silent c.342 p.G114 0.118 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,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_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 22 0 0 20 11 35.4839 KIAA1024 0 genome.wustl.edu 37 15 79750690 79750690 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 79750690 79750690 G A SNP KIAA1024 ENST00000305428 human ensembl 74_37 +1 known missense c.2201 p.R734H 1.000 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 110 0 0 62 44 41.5094 MEX3B 0 genome.wustl.edu 37 15 82335714 82335714 + Silent SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 82335714 82335714 G T SNP MEX3B ENST00000329713 human ensembl 74_37 -1 known silent c.1497 p.S499 0.984 NULL pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3B HGNC ENSG00000183496 31 0 0 24 10 29.4118 ABHD2 0 genome.wustl.edu 37 15 89698699 89698699 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 89698699 89698699 G A SNP ABHD2 ENST00000352732 human ensembl 74_37 +1 known missense c.472 p.A158T 1.000 pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD2 HGNC ENSG00000140526 135 0 0 94 43 31.3869 FANCI 0 genome.wustl.edu 37 15 89801983 89801983 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 89801983 89801983 G A SNP FANCI ENST00000310775 human ensembl 74_37 +1 known missense c.133 p.A45T 0.816 NULL NULL - no_errors FANCI HGNC ENSG00000140525 131 0 0 80 47 37.0079 ENSG00000270017 0 genome.wustl.edu 37 15 95398851 95398851 + RNA SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 95398851 95398851 G A SNP ENSG00000270017 ENST00000602330 human ensembl 74_37 -1 known rna NULL NULL 0.254 - - - no_errors CTD-2576F9.2 Clone_based_vega_gene ENSG00000270017 28 0 0 22 11 33.3333 IGF1R 0 genome.wustl.edu 37 15 99482585 99482585 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 99482585 99482585 C T SNP IGF1R ENST00000268035 human ensembl 74_37 +1 known silent c.3453 p.I1151 0.090 pirsf_Tyr_kinase_insulin-like_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_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 152 0 0 105 47 30.9211 TEKT5 0 genome.wustl.edu 37 16 10721460 10721460 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 10721460 10721460 G A SNP TEKT5 ENST00000283025 human ensembl 74_37 -1 known missense c.1438 p.R480C 0.994 NULL pfam_Tektin,prints_Tektin - no_errors TEKT5 HGNC ENSG00000153060 101 0 0 43 33 43.4211 C1QTNF8 0 genome.wustl.edu 37 16 1143669 1143669 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 1143669 1143669 G A SNP C1QTNF8 ENST00000328449 human ensembl 74_37 -1 known silent c.591 p.S197 0.994 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF8 HGNC ENSG00000184471 32 0 0 34 11 24.4444 CLCN7 0 genome.wustl.edu 37 16 1500643 1500643 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 1500643 1500643 C T SNP CLCN7 ENST00000382745 human ensembl 74_37 -1 known missense c.1472 p.G491D 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-7 - no_errors CLCN7 HGNC ENSG00000103249 38 0 0 19 5 20.8333 PDXDC1 0 genome.wustl.edu 37 16 15122809 15122809 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 15122809 15122809 G A SNP PDXDC1 ENST00000396410 human ensembl 74_37 +1 known missense c.1279 p.A427T 0.092 superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors PDXDC1 HGNC ENSG00000179889 41 0 0 25 13 34.2105 CRAMP1L 0 genome.wustl.edu 37 16 1710001 1710001 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 1710001 1710001 C T SNP CRAMP1L ENST00000293925 human ensembl 74_37 +1 known missense c.2350 p.R784W 0.994 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors CRAMP1L HGNC ENSG00000007545 28 0 0 20 14 41.1765 ABCC6P1 0 genome.wustl.edu 37 16 18593772 18593772 + RNA SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 18593772 18593772 G A SNP ABCC6P1 ENST00000546162 human ensembl 74_37 +1 known rna NULL NULL 0.984 - - - no_errors ABCC6P1 HGNC ENSG00000256340 20 0 0 10 8 44.4444 RPL3L 0 genome.wustl.edu 37 16 2004022 2004022 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 2004022 2004022 G A SNP RPL3L ENST00000268661 human ensembl 74_37 -1 known missense c.131 p.T44M 1.000 superfamily_Transl_B-barrel pfam_Ribosomal_L3,superfamily_Transl_B-barrel - no_errors RPL3L HGNC ENSG00000140986 32 0 0 22 4 15.3846 GP2 0 genome.wustl.edu 37 16 20335195 20335195 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 20335195 20335195 C T SNP GP2 ENST00000381362 human ensembl 74_37 -1 known missense c.478 p.G160R 0.000 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors GP2 HGNC ENSG00000169347 48 0 0 22 17 43.5897 ACSM5 0 genome.wustl.edu 37 16 20448595 20448595 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 20448595 20448595 G A SNP ACSM5 ENST00000331849 human ensembl 74_37 +1 known missense c.1442 p.R481Q 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM5 HGNC ENSG00000183549 109 0 0 54 14 20.5882 DNAH3 0 genome.wustl.edu 37 16 21053366 21053366 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 21053366 21053366 G A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known silent c.4621 p.L1541 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 92 0 0 46 30 39.4737 CRYM-AS1 0 genome.wustl.edu 37 16 21327263 21327263 + RNA SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 21327263 21327263 T C SNP CRYM-AS1 ENST00000338573 human ensembl 74_37 +1 known rna NULL NULL 0.018 - - - no_errors CRYM-AS1 HGNC ENSG00000189149 52 0 0 33 10 23.2558 PKD1 0 genome.wustl.edu 37 16 2142541 2142541 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 2142541 2142541 C A SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.11209 p.G3737W 0.774 pfam_PKD1_2_channel 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 35 0 0 19 9 32.1429 PKD1 0 genome.wustl.edu 37 16 2153317 2153317 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 2153317 2153317 C T SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.8741 p.S2914N 0.997 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 111 0 0 41 24 36.9231 ERN2 0 genome.wustl.edu 37 16 23703620 23703620 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 23703620 23703620 G A SNP ERN2 ENST00000256797 human ensembl 74_37 -1 known silent c.2277 p.C759 0.750 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_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom - no_errors ERN2 HGNC ENSG00000134398 94 0 0 73 43 37.069 C16orf82 0 genome.wustl.edu 37 16 27078694 27078694 + RNA SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 27078694 27078694 G T SNP C16orf82 ENST00000418886 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C16orf82 HGNC ENSG00000234186 12 0 0 13 9 40.9091 PRSS27 0 genome.wustl.edu 37 16 2763683 2763683 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 2763683 2763683 C T SNP PRSS27 ENST00000302641 human ensembl 74_37 -1 known silent c.525 p.P175 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS27 HGNC ENSG00000172382 42 0 0 38 13 25.4902 SBK1 0 genome.wustl.edu 37 16 28328881 28328881 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 28328881 28328881 C T SNP SBK1 ENST00000341901 human ensembl 74_37 +1 known missense c.169 p.R57W 0.996 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_Ser/Thr_kinase_Sbk1,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,pirsf_Ser/Thr_kinase_Sbk1,pfscan_Prot_kinase_dom - no_errors SBK1 HGNC ENSG00000188322 88 0 0 47 34 41.9753 SBK1 0 genome.wustl.edu 37 16 28331811 28331811 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 28331811 28331811 C T SNP SBK1 ENST00000341901 human ensembl 74_37 +1 known missense c.844 p.R282C 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_Sbk1,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,pirsf_Ser/Thr_kinase_Sbk1,pfscan_Prot_kinase_dom - no_errors SBK1 HGNC ENSG00000188322 25 0 0 20 13 39.3939 ATP2A1 0 genome.wustl.edu 37 16 28898806 28898806 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 28898806 28898806 G A SNP ATP2A1 ENST00000357084 human ensembl 74_37 +1 known missense c.691 p.E231K 0.996 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_IIA,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_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A1 HGNC ENSG00000196296 134 0 0 129 9 6.52174 ZNF768 0 genome.wustl.edu 37 16 30535842 30535842 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 30535842 30535842 C T SNP ZNF768 ENST00000380412 human ensembl 74_37 -1 known missense c.1619 p.R540H 0.973 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF768 HGNC ENSG00000169957 64 0 0 51 21 29.1667 ZNF764 0 genome.wustl.edu 37 16 30566768 30566768 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 30566768 30566768 C T SNP ZNF764 ENST00000252797 human ensembl 74_37 -1 known missense c.974 p.R325H 0.943 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 ZNF764 HGNC ENSG00000169951 20 0 0 24 11 31.4286 SRCAP 0 genome.wustl.edu 37 16 30732093 30732093 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 30732093 30732093 G A SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known missense c.3047 p.R1016Q 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 162 0 0 106 59 35.7576 STX4 0 genome.wustl.edu 37 16 31050934 31050934 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 31050934 31050934 G A SNP STX4 ENST00000313843 human ensembl 74_37 +1 known missense c.775 p.V259I 0.992 pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX4 HGNC ENSG00000103496 131 1 0.757576 116 45 27.9503 PRSS8 0 genome.wustl.edu 37 16 31143904 31143904 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 31143904 31143904 G A SNP PRSS8 ENST00000317508 human ensembl 74_37 -1 known missense c.551 p.T184M 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS8 HGNC ENSG00000052344 66 0 0 43 23 34.8485 PRSS8 0 genome.wustl.edu 37 16 31144063 31144063 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 31144063 31144063 C T SNP PRSS8 ENST00000317508 human ensembl 74_37 -1 known missense c.478 p.A160T 0.917 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS8 HGNC ENSG00000052344 138 0 0 161 20 11.0497 FUS 0 genome.wustl.edu 37 16 31196423 31196423 + Silent SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 31196423 31196423 T C SNP FUS ENST00000254108 human ensembl 74_37 +1 known silent c.687 p.G229 0.286 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors FUS HGNC ENSG00000089280 15 0 0 16 9 36 ZNF205 0 genome.wustl.edu 37 16 3170056 3170056 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 3170056 3170056 G A SNP ZNF205 ENST00000219091 human ensembl 74_37 +1 known silent c.1395 p.A465 0.001 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 ZNF205 HGNC ENSG00000122386 107 1 0.925926 123 32 20.6452 PPL 0 genome.wustl.edu 37 16 4949045 4949045 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 4949045 4949045 G A SNP PPL ENST00000345988 human ensembl 74_37 -1 known missense c.845 p.A282V 0.330 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 153 0 0 75 44 36.9748 SEC14L5 0 genome.wustl.edu 37 16 5046950 5046950 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 5046950 5046950 G A SNP SEC14L5 ENST00000251170 human ensembl 74_37 +1 known missense c.875 p.R292H 1.000 superfamily_CRAL/TRIO_N_dom pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran - no_errors SEC14L5 HGNC ENSG00000103184 29 0 0 22 18 45 IRX3 0 genome.wustl.edu 37 16 54319007 54319007 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 54319007 54319007 C T SNP IRX3 ENST00000329734 human ensembl 74_37 -1 known silent c.786 p.A262 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX3 HGNC ENSG00000177508 35 0 0 25 2 7.40741 CES5A 0 genome.wustl.edu 37 16 55905570 55905570 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 55905570 55905570 C T SNP CES5A ENST00000521992 human ensembl 74_37 -1 known silent c.471 p.A157 0.021 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES5A HGNC ENSG00000159398 48 0 0 33 19 36.5385 CNGB1 0 genome.wustl.edu 37 16 57949226 57949226 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 57949226 57949226 C A SNP CNGB1 ENST00000251102 human ensembl 74_37 -1 known missense c.2231 p.S744I 0.998 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 37 0 0 39 6 13.3333 CDH5 0 genome.wustl.edu 37 16 66424419 66424419 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 66424419 66424419 C T SNP CDH5 ENST00000341529 human ensembl 74_37 +1 known missense c.895 p.R299W 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH5 HGNC ENSG00000179776 104 0 0 42 22 34.375 CDH5 0 genome.wustl.edu 37 16 66436801 66436801 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 66436801 66436801 C T SNP CDH5 ENST00000341529 human ensembl 74_37 +1 known missense c.2084 p.A695V 0.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH5 HGNC ENSG00000179776 32 0 0 22 9 29.0323 C16orf70 0 genome.wustl.edu 37 16 67178213 67178213 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 67178213 67178213 C T SNP C16orf70 ENST00000219139 human ensembl 74_37 +1 known missense c.896 p.A299V 1.000 pfam_UPF0183 pfam_UPF0183 - no_errors C16orf70 HGNC ENSG00000125149 59 0 0 38 12 24 GFOD2 0 genome.wustl.edu 37 16 67709441 67709441 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 67709441 67709441 G A SNP GFOD2 ENST00000268797 human ensembl 74_37 -1 known missense c.775 p.R259C 0.993 NULL pfam_Oxidoreductase_N - no_errors GFOD2 HGNC ENSG00000141098 66 0 0 39 30 43.4783 SLC12A4 0 genome.wustl.edu 37 16 67982038 67982038 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 67982038 67982038 G A SNP SLC12A4 ENST00000422611 human ensembl 74_37 -1 known silent c.1779 p.F593 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A4 HGNC ENSG00000124067 133 0 0 70 41 36.9369 SLC7A6 0 genome.wustl.edu 37 16 68330568 68330568 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 68330568 68330568 C T SNP SLC7A6 ENST00000219343 human ensembl 74_37 +1 known silent c.1308 p.S436 0.967 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A6 HGNC ENSG00000103064 232 0 0 172 24 12.2449 VPS4A 0 genome.wustl.edu 37 16 69353359 69353359 + Missense_Mutation SNP A A C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 69353359 69353359 A C SNP VPS4A ENST00000254950 human ensembl 74_37 +1 known missense c.533 p.K178T 1.000 pfam_ATPase_AAA_core,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase - no_errors VPS4A HGNC ENSG00000132612 57 0 0 53 18 25.3521 WDR90 0 genome.wustl.edu 37 16 712018 712018 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 712018 712018 G A SNP WDR90 ENST00000549091 human ensembl 74_37 +1 novel missense c.3992 p.G1331D 0.051 superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 63 0 0 66 15 18.5185 DHX38 0 genome.wustl.edu 37 16 72132685 72132685 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 72132685 72132685 G A SNP DHX38 ENST00000268482 human ensembl 74_37 +1 known missense c.758 p.R253Q 0.996 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,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 DHX38 HGNC ENSG00000140829 52 0 0 29 18 38.2979 RBFOX1 0 genome.wustl.edu 37 16 7383075 7383075 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 7383075 7383075 C T SNP RBFOX1 ENST00000311745 human ensembl 74_37 +1 known missense c.73 p.P25S 0.998 pirsf_RNA-bd_Fox-1 pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 127 0 0 67 25 27.1739 WDR59 0 genome.wustl.edu 37 16 74943405 74943405 + Nonsense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 74943405 74943405 C A SNP WDR59 ENST00000262144 human ensembl 74_37 -1 known nonsense c.1636 p.G546* 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_UBQ-conjugating_enzyme/RWD,smart_WD40_repeat,smart_RWD-domain,pfscan_RWD-domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR59 HGNC ENSG00000103091 95 0 0 47 48 50.5263 CNTNAP4 0 genome.wustl.edu 37 16 76555095 76555095 + Silent SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 76555095 76555095 C A SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known silent c.2421 p.T807 0.184 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G 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 CNTNAP4 HGNC ENSG00000152910 203 0 0 99 49 33.1081 HSDL1 0 genome.wustl.edu 37 16 84163781 84163781 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 84163781 84163781 G A SNP HSDL1 ENST00000219439 human ensembl 74_37 -1 known missense c.476 p.P159L 0.991 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSDL1 HGNC ENSG00000103160 160 1 0.621118 112 61 35.2601 COX4I1 0 genome.wustl.edu 37 16 85839428 85839428 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 85839428 85839428 A G SNP COX4I1 ENST00000253452 human ensembl 74_37 +1 known missense c.331 p.I111V 0.930 pfam_Cyt_c_oxidase_su4_fam,superfamily_Cyt_c_oxidase_su4_fam pfam_Cyt_c_oxidase_su4_fam,superfamily_Cyt_c_oxidase_su4_fam,prints_Cyt_c_oxidase_su4 - no_errors COX4I1 HGNC ENSG00000131143 138 0 0 79 43 35.2459 FOXC2 0 genome.wustl.edu 37 16 86601223 86601223 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 86601223 86601223 C T SNP FOXC2 ENST00000320354 human ensembl 74_37 +1 known silent c.282 p.T94 0.918 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXC2 HGNC ENSG00000176692 135 0 0 132 49 27.0718 FOXC2 0 genome.wustl.edu 37 16 86602288 86602288 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 86602288 86602288 C T SNP FOXC2 ENST00000320354 human ensembl 74_37 +1 known silent c.1347 p.N449 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXC2 HGNC ENSG00000176692 72 0 0 57 35 38.0435 METTL22 0 genome.wustl.edu 37 16 8722946 8722946 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 8722946 8722946 C A SNP METTL22 ENST00000381920 human ensembl 74_37 +1 known missense c.493 p.P165T 0.000 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL22 HGNC ENSG00000067365 424 0 0 275 140 33.7349 JPH3 0 genome.wustl.edu 37 16 87636634 87636634 + RNA SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 87636634 87636634 C T SNP JPH3 ENST00000301008 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors JPH3 HGNC ENSG00000154118 22 0 0 17 4 19.0476 BANP 0 genome.wustl.edu 37 16 88066741 88066741 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 88066741 88066741 G A SNP BANP ENST00000286122 human ensembl 74_37 +1 known missense c.1066 p.A356T 0.000 NULL pfam_BEN_domain - no_errors BANP HGNC ENSG00000172530 45 0 0 22 14 38.8889 ANKRD11 0 genome.wustl.edu 37 16 89348416 89348416 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 89348416 89348416 G A SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.4534 p.R1512C 0.000 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 96 0 0 53 39 42.3913 TUBB3 0 genome.wustl.edu 37 16 90001326 90001326 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 90001326 90001326 G A SNP TUBB3 ENST00000315491 human ensembl 74_37 +1 known missense c.467 p.R156H 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_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 TUBB3 Uniprot_gn ENSG00000258947 119 0 0 77 44 36.3636 GRIN2A 0 genome.wustl.edu 37 16 9857479 9857479 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 9857479 9857479 A G SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known missense c.3922 p.S1308P 0.999 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 GRIN2A HGNC ENSG00000183454 170 0 0 97 26 21.1382 MYH4 0 genome.wustl.edu 37 17 10348604 10348604 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 10348604 10348604 C T SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known missense c.5245 p.V1749I 0.742 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 173 0 0 74 46 38.3333 MYH4 0 genome.wustl.edu 37 17 10355524 10355524 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 10355524 10355524 C T SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known missense c.3472 p.G1158S 0.999 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 209 0 0 123 74 37.5635 MYH1 0 genome.wustl.edu 37 17 10404768 10404768 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 10404768 10404768 G A SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known missense c.3397 p.R1133W 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 80 0 0 68 41 37.6147 SLC43A2 0 genome.wustl.edu 37 17 1518295 1518295 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 1518295 1518295 C T SNP SLC43A2 ENST00000571376 human ensembl 74_37 -1 known missense c.316 p.V106I 0.443 NULL NULL - no_errors SLC43A2 HGNC ENSG00000167703 60 0 0 45 12 21.0526 RILP 0 genome.wustl.edu 37 17 1552944 1552944 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 1552944 1552944 G A SNP RILP ENST00000301336 human ensembl 74_37 -1 known missense c.155 p.A52V 0.125 pfam_JNK/Rab-associated_protein-1_N pfam_RILP,pfam_JNK/Rab-associated_protein-1_N - no_errors RILP HGNC ENSG00000167705 15 0 0 17 12 41.3793 FLCN 0 genome.wustl.edu 37 17 17129580 17129580 + Silent SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 17129580 17129580 G T SNP FLCN ENST00000285071 human ensembl 74_37 -1 known silent c.306 p.T102 0.524 NULL pfam_Folliculin - no_errors FLCN HGNC ENSG00000154803 140 0 0 72 29 28.7129 MED9 0 genome.wustl.edu 37 17 17394785 17394785 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 17394785 17394785 C T SNP MED9 ENST00000268711 human ensembl 74_37 +1 known silent c.417 p.C139 1.000 pfam_Mediator_Med9 pfam_Mediator_Med9 - no_errors MED9 HGNC ENSG00000141026 91 0 0 73 32 30.4762 RAI1 0 genome.wustl.edu 37 17 17699712 17699712 + Silent SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 17699712 17699712 C A SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known silent c.3450 p.T1150 0.269 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 86 0 0 80 34 29.8246 RAI1 0 genome.wustl.edu 37 17 17700691 17700691 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 17700691 17700691 C T SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known missense c.4429 p.P1477S 0.158 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 38 0 0 24 17 41.4634 MYO15A 0 genome.wustl.edu 37 17 18070920 18070920 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 18070920 18070920 T C SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.9965 p.L3322P 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,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_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 49 0 0 45 20 30.7692 SNORD3A 0 genome.wustl.edu 37 17 19091383 19091383 + RNA SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 19091383 19091383 G A SNP SNORD3A ENST00000365494 human ensembl 74_37 +1 known rna NULL NULL 0.986 - - - no_errors SNORD3A HGNC ENSG00000263934 289 0 0 290 22 7.05128 LGALS9B 0 genome.wustl.edu 37 17 20354896 20354896 + Silent SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 20354896 20354896 A G SNP LGALS9B ENST00000423676 human ensembl 74_37 -1 known silent c.822 p.D274 0.225 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 LGALS9B HGNC ENSG00000170298 97 0 0 64 34 34.6939 LGALS9B 0 genome.wustl.edu 37 17 20361677 20361677 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 20361677 20361677 G A SNP LGALS9B ENST00000423676 human ensembl 74_37 -1 known missense c.152 p.T51M 0.011 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 LGALS9B HGNC ENSG00000170298 58 0 0 45 10 18.1818 TMEM11 0 genome.wustl.edu 37 17 21101601 21101601 + RNA SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 21101601 21101601 C T SNP TMEM11 ENST00000577419 human ensembl 74_37 -1 known rna NULL NULL 0.063 - - - no_errors TMEM11 HGNC ENSG00000178307 106 0 0 80 28 25.9259 SGSM2 0 genome.wustl.edu 37 17 2275734 2275734 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 2275734 2275734 C T SNP SGSM2 ENST00000268989 human ensembl 74_37 +1 known silent c.1740 p.S580 0.003 NULL 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 SGSM2 HGNC ENSG00000141258 17 0 0 21 12 36.3636 ENSG00000205821 0 genome.wustl.edu 37 17 2318566 2318566 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 2318566 2318566 C T SNP ENSG00000205821 ENST00000609667 human ensembl 74_37 -1 known missense c.86 p.R29H 0.000 NULL NULL - no_errors AC006435.1 Clone_based_ensembl_gene ENSG00000205821 199 0 0 145 92 38.8186 SPAG5 0 genome.wustl.edu 37 17 26906803 26906803 + Silent SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 26906803 26906803 G T SNP SPAG5 ENST00000321765 human ensembl 74_37 -1 known silent c.2850 p.T950 1.000 NULL NULL - no_errors SPAG5 HGNC ENSG00000076382 212 0 0 143 52 26.6667 PIPOX 0 genome.wustl.edu 37 17 27380010 27380010 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 27380010 27380010 G A SNP PIPOX ENST00000323372 human ensembl 74_37 +1 known silent c.336 p.R112 0.986 pfam_FAD-dep_OxRdtase,tigrfam_SoxA_mon pfam_FAD-dep_OxRdtase,tigrfam_SoxA_mon - no_errors PIPOX HGNC ENSG00000179761 88 0 0 47 30 38.961 MYO18A 0 genome.wustl.edu 37 17 27419968 27419968 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 27419968 27419968 G A SNP MYO18A ENST00000354329 human ensembl 74_37 -1 known missense c.4978 p.R1660C 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 83 0 0 60 6 9.09091 SLC6A4 0 genome.wustl.edu 37 17 28548905 28548905 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 28548905 28548905 G A SNP SLC6A4 ENST00000261707 human ensembl 74_37 -1 known silent c.72 p.N24 0.007 pfam_Na/ntran_symport_serotonin_N,prints_Na/ntran_symport_serotonin_N pfam_Na/ntran_symport,pfam_Na/ntran_symport_serotonin_N,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_serotonin_N - no_errors SLC6A4 HGNC ENSG00000108576 124 0 0 79 53 40.1515 UNC45B 0 genome.wustl.edu 37 17 33482316 33482316 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 33482316 33482316 C T SNP UNC45B ENST00000268876 human ensembl 74_37 +1 known missense c.641 p.A214V 1.000 superfamily_ARM-type_fold pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45B HGNC ENSG00000141161 52 0 0 34 19 35.8491 ENSG00000266999 0 genome.wustl.edu 37 17 34235878 34235878 + RNA SNP A A C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 34235878 34235878 A C SNP ENSG00000266999 ENST00000587132 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC015849.16 Clone_based_vega_gene ENSG00000266999 60 0 0 48 24 33.3333 CCL4L1 0 genome.wustl.edu 37 17 34539187 34539187 + Missense_Mutation SNP A A T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 34539187 34539187 A T SNP CCL4L1 ENST00000589079 human ensembl 74_37 +1 known missense c.86 p.D29V 1.000 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom - no_errors CCL4L1 HGNC ENSG00000205020 8 0 0 8 6 42.8571 TRPV1 0 genome.wustl.edu 37 17 3493653 3493653 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 3493653 3493653 C T SNP TRPV1 ENST00000399756 human ensembl 74_37 -1 known missense c.638 p.R213H 1.000 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 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 TRPV1 HGNC ENSG00000196689 77 0 0 56 34 37.7778 MLLT6 0 genome.wustl.edu 37 17 36873726 36873726 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 36873726 36873726 G A SNP MLLT6 ENST00000325718 human ensembl 74_37 +1 known missense c.1693 p.G565R 0.992 NULL superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT6 HGNC ENSG00000108292 146 0 0 131 65 33.1633 CDK12 0 genome.wustl.edu 37 17 37676314 37676314 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 37676314 37676314 C T SNP CDK12 ENST00000447079 human ensembl 74_37 +1 known silent c.3069 p.V1023 0.014 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 CDK12 HGNC ENSG00000167258 100 0 0 83 6 6.74157 ERBB2 0 genome.wustl.edu 37 17 37881332 37881332 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 37881332 37881332 G A SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.2524 p.V842I 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_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 ERBB2 HGNC ENSG00000141736 88 0 0 39 21 35 GSDMB 0 genome.wustl.edu 37 17 38066178 38066178 + Splice_Site SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 38066178 38066178 C T SNP GSDMB ENST00000360317 human ensembl 74_37 -1 known splice_site c.408-1 e3-1 0.998 - - - no_errors GSDMB HGNC ENSG00000073605 79 0 0 45 14 23.7288 MED24 0 genome.wustl.edu 37 17 38185125 38185125 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 38185125 38185125 C T SNP MED24 ENST00000394128 human ensembl 74_37 -1 known missense c.1363 p.A455T 1.000 pfam_Mediator_Med24_N pfam_Mediator_Med24_N - no_errors MED24 HGNC ENSG00000008838 89 0 0 67 27 28.7234 KRT28 0 genome.wustl.edu 37 17 38953394 38953394 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 38953394 38953394 G A SNP KRT28 ENST00000306658 human ensembl 74_37 -1 known missense c.830 p.A277V 0.503 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT28 HGNC ENSG00000173908 67 0 0 44 29 39.726 COASY 0 genome.wustl.edu 37 17 40716142 40716142 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 40716142 40716142 C T SNP COASY ENST00000590958 human ensembl 74_37 +1 known silent c.951 p.S317 1.000 pfam_Cyt_trans-like pfam_Depp_CoAkinase,pfam_Cyt_trans-like,superfamily_P-loop_NTPase,tigrfam_Depp_CoAkinase - no_errors COASY HGNC ENSG00000068120 46 0 0 28 17 37.7778 AOC2 0 genome.wustl.edu 37 17 41001256 41001256 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 41001256 41001256 G A SNP AOC2 ENST00000253799 human ensembl 74_37 +1 known missense c.1742 p.R581H 1.000 pfam_Cu_amine_oxidase_C,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 148 1 0.671141 109 48 30.5732 ASB16 0 genome.wustl.edu 37 17 42254992 42254992 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 42254992 42254992 G A SNP ASB16 ENST00000293414 human ensembl 74_37 +1 known missense c.1078 p.A360T 1.000 NULL 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 ASB16 HGNC ENSG00000161664 108 0 0 76 16 17.3913 GPATCH8 0 genome.wustl.edu 37 17 42474962 42474962 + Nonsense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 42474962 42474962 G A SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known nonsense c.4483 p.Q1495* 1.000 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 58 0 0 46 27 36.9863 GJC1 0 genome.wustl.edu 37 17 42882358 42882358 + Silent SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 42882358 42882358 A G SNP GJC1 ENST00000330514 human ensembl 74_37 -1 known silent c.828 p.N276 0.989 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin45 - no_errors GJC1 HGNC ENSG00000182963 187 0 0 113 66 36.8715 NMT1 0 genome.wustl.edu 37 17 43180414 43180414 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 43180414 43180414 G A SNP NMT1 ENST00000258960 human ensembl 74_37 +1 known silent c.1089 p.T363 0.941 pfam_MyristoylCoA_TrFase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT1 HGNC ENSG00000136448 119 0 0 65 43 39.8148 FMNL1 0 genome.wustl.edu 37 17 43320666 43320666 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 43320666 43320666 G A SNP FMNL1 ENST00000328118 human ensembl 74_37 +1 known missense c.2192 p.R731H 0.985 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL1 HGNC ENSG00000184922 69 0 0 52 19 26.7606 MAP3K14 0 genome.wustl.edu 37 17 43345072 43345072 + RNA SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 43345072 43345072 G A SNP MAP3K14 ENST00000344686 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors MAP3K14 HGNC ENSG00000006062 167 0 0 125 53 29.7753 ARHGAP27 0 genome.wustl.edu 37 17 43507092 43507092 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 43507092 43507092 C A SNP ARHGAP27 ENST00000428638 human ensembl 74_37 -1 known missense c.554 p.G185V 1.000 NULL pfam_RhoGAP_dom,pfam_WW_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP27 HGNC ENSG00000159314 9 0 0 6 10 62.5 ZMYND15 0 genome.wustl.edu 37 17 4646746 4646746 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 4646746 4646746 C T SNP ZMYND15 ENST00000433935 human ensembl 74_37 +1 known silent c.1293 p.R431 0.980 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND15 HGNC ENSG00000141497 180 0 0 121 50 29.2398 HOXB5 0 genome.wustl.edu 37 17 46670890 46670890 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 46670890 46670890 A G SNP HOXB5 ENST00000239151 human ensembl 74_37 -1 known missense c.155 p.M52T 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB5 HGNC ENSG00000120075 39 0 0 40 15 27.2727 VMO1 0 genome.wustl.edu 37 17 4688915 4688915 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 4688915 4688915 G A SNP VMO1 ENST00000328739 human ensembl 74_37 -1 known silent c.351 p.G117 0.886 pfam_VOMI,superfamily_VOMI pfam_VOMI,superfamily_VOMI - no_errors VMO1 HGNC ENSG00000182853 38 0 0 37 12 24.4898 SLC35B1 0 genome.wustl.edu 37 17 47780357 47780357 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 47780357 47780357 G A SNP SLC35B1 ENST00000415270 human ensembl 74_37 -1 known missense c.890 p.T297M 1.000 pfam_UAA,pfam_DMT,pfam_Tpt_PEP_trans_dom pfam_UAA,pfam_DMT,pfam_Tpt_PEP_trans_dom - no_errors SLC35B1 HGNC ENSG00000121073 71 0 0 47 25 34.7222 PDK2 0 genome.wustl.edu 37 17 48174908 48174908 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 48174908 48174908 C T SNP PDK2 ENST00000503176 human ensembl 74_37 +1 known silent c.240 p.S80 0.050 pfam_BCDHK/PDK_N,superfamily_BCDHK/PDK_N 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 - no_errors PDK2 HGNC ENSG00000005882 73 0 0 46 19 29.2308 COL1A1 0 genome.wustl.edu 37 17 48264045 48264045 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 48264045 48264045 C T SNP COL1A1 ENST00000225964 human ensembl 74_37 -1 known missense c.3770 p.R1257H 1.000 pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C 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 199 0 0 94 50 34.7222 XYLT2 0 genome.wustl.edu 37 17 48435793 48435793 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 48435793 48435793 C T SNP XYLT2 ENST00000017003 human ensembl 74_37 +1 known missense c.2167 p.R723W 1.000 NULL pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 71 0 0 45 28 38.3562 CAMTA2 0 genome.wustl.edu 37 17 4877058 4877058 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 4877058 4877058 C A SNP CAMTA2 ENST00000414043 human ensembl 74_37 -1 known missense c.2092 p.G698C 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 78 0 0 46 28 37.8378 WFIKKN2 0 genome.wustl.edu 37 17 48917623 48917623 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 48917623 48917623 C T SNP WFIKKN2 ENST00000311378 human ensembl 74_37 +1 known missense c.974 p.A325V 0.002 superfamily_Prot_inh_Kunz-m pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m - no_errors WFIKKN2 HGNC ENSG00000173714 84 0 0 46 35 43.2099 VPS53 0 genome.wustl.edu 37 17 560695 560695 + RNA SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 560695 560695 C T SNP VPS53 ENST00000575207 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors VPS53 HGNC ENSG00000141252 23 0 0 17 8 32 DHX40 0 genome.wustl.edu 37 17 57679970 57679970 + Missense_Mutation SNP G G C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 57679970 57679970 G C SNP DHX40 ENST00000251241 human ensembl 74_37 +1 known missense c.1894 p.A632P 1.000 pfam_DUF1605 pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX40 HGNC ENSG00000108406 74 0 0 24 10 29.4118 PPM1D 0 genome.wustl.edu 37 17 58740889 58740889 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 58740889 58740889 C T SNP PPM1D ENST00000305921 human ensembl 74_37 +1 known silent c.1794 p.H598 0.993 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1D HGNC ENSG00000170836 65 0 0 62 15 19.4805 MRC2 0 genome.wustl.edu 37 17 60766261 60766261 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 60766261 60766261 C T SNP MRC2 ENST00000303375 human ensembl 74_37 +1 known missense c.3274 p.R1092C 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 30 0 0 24 11 31.4286 KCNH6 0 genome.wustl.edu 37 17 61611343 61611343 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 61611343 61611343 G A SNP KCNH6 ENST00000583023 human ensembl 74_37 +1 known missense c.772 p.V258M 1.000 prints_K_chnl_volt-dep_EAG/ELK/ERG pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom - no_errors KCNH6 HGNC ENSG00000173826 162 0 0 109 68 38.4181 LRRC37A3 0 genome.wustl.edu 37 17 62852005 62852005 + Silent SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 62852005 62852005 G T SNP LRRC37A3 ENST00000319651 human ensembl 74_37 -1 known silent c.4812 p.I1604 0.036 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 130 1 0.763359 98 21 17.6471 AMZ2P1 0 genome.wustl.edu 37 17 62968913 62968913 + RNA SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 62968913 62968913 A G SNP AMZ2P1 ENST00000397713 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AMZ2P1 HGNC ENSG00000214174 30 0 0 17 10 37.037 PITPNM3 0 genome.wustl.edu 37 17 6367524 6367524 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 6367524 6367524 C A SNP PITPNM3 ENST00000262483 human ensembl 74_37 -1 known missense c.2122 p.G708W 1.000 NULL pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 146 0 0 85 37 30.3279 MIR497HG 0 genome.wustl.edu 37 17 6919203 6919203 + RNA SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 6919203 6919203 G T SNP MIR497HG ENST00000443997 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR497HG HGNC ENSG00000267532 31 0 0 18 11 37.931 KIF19 0 genome.wustl.edu 37 17 72340420 72340420 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 72340420 72340420 G A SNP KIF19 ENST00000389916 human ensembl 74_37 +1 known missense c.515 p.R172Q 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF19 HGNC ENSG00000196169 69 0 0 38 26 40.625 ARMC7 0 genome.wustl.edu 37 17 73125123 73125123 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 73125123 73125123 G A SNP ARMC7 ENST00000245543 human ensembl 74_37 +1 known missense c.587 p.R196Q 0.518 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMC7 HGNC ENSG00000125449 45 0 0 39 24 38.0952 LLGL2 0 genome.wustl.edu 37 17 73570746 73570746 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 73570746 73570746 G A SNP LLGL2 ENST00000392550 human ensembl 74_37 +1 known missense c.3052 p.G1018R 0.995 NULL pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL2 HGNC ENSG00000073350 29 0 0 24 6 20 RECQL5 0 genome.wustl.edu 37 17 73627684 73627684 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 73627684 73627684 C T SNP RECQL5 ENST00000317905 human ensembl 74_37 -1 known missense c.1294 p.D432N 1.000 tigrfam_DNA_helicase_ATP-dep_RecQ pfam_RecQ_helicase-like_5,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,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL5 HGNC ENSG00000108469 81 0 0 79 7 8.13953 ZBTB4 0 genome.wustl.edu 37 17 7369878 7369878 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 7369878 7369878 G A SNP ZBTB4 ENST00000311403 human ensembl 74_37 -1 known silent c.243 p.T81 0.998 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like 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 27 0 0 28 14 33.3333 SRP68 0 genome.wustl.edu 37 17 74036996 74036996 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 74036996 74036996 C T SNP SRP68 ENST00000307877 human ensembl 74_37 -1 known missense c.1588 p.A530T 1.000 NULL NULL - no_errors SRP68 HGNC ENSG00000167881 101 0 0 61 21 25.6098 EXOC7 0 genome.wustl.edu 37 17 74094083 74094083 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 74094083 74094083 C T SNP EXOC7 ENST00000335146 human ensembl 74_37 -1 known missense c.434 p.R145H 0.998 superfamily_Cullin_repeat-like_dom pfam_Exo70,superfamily_Cullin_repeat-like_dom - no_errors EXOC7 HGNC ENSG00000182473 91 0 0 48 25 34.2466 RNF157 0 genome.wustl.edu 37 17 74141371 74141371 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 74141371 74141371 C A SNP RNF157 ENST00000269391 human ensembl 74_37 -1 known missense c.1985 p.S662I 0.870 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF157 HGNC ENSG00000141576 16 0 0 12 11 47.8261 POLR2A 0 genome.wustl.edu 37 17 7416578 7416578 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 7416578 7416578 G A SNP POLR2A ENST00000322644 human ensembl 74_37 +1 known silent c.4995 p.S1665 0.105 pfam_RNA_pol_II_repeat_euk pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 37 0 0 56 11 16.4179 AANAT 0 genome.wustl.edu 37 17 74465953 74465953 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 74465953 74465953 C T SNP AANAT ENST00000250615 human ensembl 74_37 +1 known silent c.660 p.A220 0.000 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors AANAT HGNC ENSG00000129673 11 0 0 13 9 40.9091 MGAT5B 0 genome.wustl.edu 37 17 74865008 74865008 + RNA SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 74865008 74865008 G A SNP MGAT5B ENST00000374998 human ensembl 74_37 +1 known rna NULL NULL 0.032 - - - no_errors MGAT5B HGNC ENSG00000167889 14 0 0 10 17 62.963 TNRC6C 0 genome.wustl.edu 37 17 76046871 76046871 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 76046871 76046871 G T SNP TNRC6C ENST00000335749 human ensembl 74_37 +1 known missense c.1728 p.K576N 0.945 NULL pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 94 0 0 64 33 34.0206 TMC6 0 genome.wustl.edu 37 17 76117688 76117688 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 76117688 76117688 G A SNP TMC6 ENST00000322914 human ensembl 74_37 -1 known silent c.1332 p.T444 0.000 NULL pfam_TMC - no_errors TMC6 HGNC ENSG00000141524 36 0 0 35 23 39.6552 ENPP7 0 genome.wustl.edu 37 17 77708985 77708985 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 77708985 77708985 G A SNP ENPP7 ENST00000328313 human ensembl 74_37 +1 known silent c.543 p.A181 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 84 0 0 71 32 31.068 LOC100294362 0 genome.wustl.edu 37 17 78327309 78327309 + RNA SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 78327309 78327309 C T SNP LOC100294362 ENST00000575034 human ensembl 74_37 -1 known rna NULL NULL 0.208 - - - no_errors CTD-2047H16.4 Clone_based_vega_gene ENSG00000263069 11 0 0 12 9 42.8571 RPTOR 0 genome.wustl.edu 37 17 78796081 78796081 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 78796081 78796081 C T SNP RPTOR ENST00000306801 human ensembl 74_37 +1 known missense c.971 p.A324V 1.000 prints_Raptor pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 347 1 0.287356 237 130 35.4223 TMEM105 0 genome.wustl.edu 37 17 79287760 79287760 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 79287760 79287760 G A SNP TMEM105 ENST00000332900 human ensembl 74_37 -1 known silent c.81 p.I27 0.010 NULL NULL - no_errors TMEM105 HGNC ENSG00000185332 74 0 0 46 28 37.8378 ALOX12B 0 genome.wustl.edu 37 17 7976518 7976518 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 7976518 7976518 G A SNP ALOX12B ENST00000319144 human ensembl 74_37 -1 known missense c.1874 p.T625M 0.972 pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_mml pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C,prints_LipOase_mml - no_errors ALOX12B HGNC ENSG00000179477 299 0 0 162 105 39.3258 ALOX12B 0 genome.wustl.edu 37 17 7976593 7976593 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 7976593 7976593 C T SNP ALOX12B ENST00000319144 human ensembl 74_37 -1 known missense c.1799 p.R600Q 0.046 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C,prints_LipOase_mml - no_errors ALOX12B HGNC ENSG00000179477 347 0 0 202 117 36.6771 NOTUM 0 genome.wustl.edu 37 17 79913389 79913389 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 79913389 79913389 G A SNP NOTUM ENST00000409678 human ensembl 74_37 -1 known silent c.1020 p.D340 0.690 pfam_NOTUM pfam_NOTUM - no_errors NOTUM HGNC ENSG00000185269 44 0 0 24 11 31.4286 PFAS 0 genome.wustl.edu 37 17 8158873 8158873 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 8158873 8158873 C T SNP PFAS ENST00000314666 human ensembl 74_37 +1 known silent c.438 p.H146 1.000 tigrfam_PRibForGlyAmidine_synth pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth - no_errors PFAS HGNC ENSG00000178921 80 0 0 78 10 11.3636 KRBA2 0 genome.wustl.edu 37 17 8273459 8273459 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 8273459 8273459 G A SNP KRBA2 ENST00000331336 human ensembl 74_37 -1 known missense c.472 p.R158C 0.850 NULL pfam_Krueppel-associated_box,superfamily_RNaseH-like_dom,superfamily_Krueppel-associated_box,pfscan_Integrase_cat-core - no_errors KRBA2 HGNC ENSG00000184619 231 0 0 113 55 32.7381 MYH10 0 genome.wustl.edu 37 17 8411973 8411973 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 8411973 8411973 C T SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.3083 p.R1028H 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 108 0 0 50 33 39.759 GAS7 0 genome.wustl.edu 37 17 9873065 9873065 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 9873065 9873065 C T SNP GAS7 ENST00000432992 human ensembl 74_37 -1 known missense c.400 p.A134T 0.969 NULL pfam_FCH_dom,pfam_WW_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_WW_dom,smart_SH3_domain,smart_WW_dom,smart_FCH_dom,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_WW_dom - no_errors GAS7 HGNC ENSG00000007237 113 0 0 57 28 32.9412 ABR 0 genome.wustl.edu 37 17 994924 994924 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 994924 994924 C T SNP ABR ENST00000302538 human ensembl 74_37 -1 known missense c.512 p.G171D 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors ABR HGNC ENSG00000159842 121 0 0 77 31 28.7037 PSMG2 0 genome.wustl.edu 37 18 12718569 12718569 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 18 12718569 12718569 C T SNP PSMG2 ENST00000317615 human ensembl 74_37 +1 known silent c.342 p.G114 0.005 pfam_Proteasome_assmbl_chaperone_2,pirsf_Proteasome_assmbl_chp_2_euk pfam_Proteasome_assmbl_chaperone_2,pirsf_Proteasome_assmbl_chp_2_euk - no_errors PSMG2 HGNC ENSG00000128789 59 0 0 27 14 34.1463 MC5R 0 genome.wustl.edu 37 18 13826229 13826229 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 18 13826229 13826229 G A SNP MC5R ENST00000324750 human ensembl 74_37 +1 known silent c.465 p.T155 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melancort_rcpt_5,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC5R HGNC ENSG00000176136 252 0 0 173 90 34.2205 ZNF521 0 genome.wustl.edu 37 18 22806909 22806909 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 18 22806909 22806909 G T SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.973 p.L325M 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 42 0 0 41 23 35.9375 DSC3 0 genome.wustl.edu 37 18 28602425 28602425 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 18 28602425 28602425 C T SNP DSC3 ENST00000360428 human ensembl 74_37 -1 known silent c.819 p.P273 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin - no_errors DSC3 HGNC ENSG00000134762 57 0 0 72 4 5.26316 B4GALT6 0 genome.wustl.edu 37 18 29218625 29218625 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 18 29218625 29218625 C T SNP B4GALT6 ENST00000306851 human ensembl 74_37 -1 known silent c.570 p.A190 1.000 pfam_Galactosyl_T_C pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT6 HGNC ENSG00000118276 97 0 0 52 21 28.7671 ELP2 0 genome.wustl.edu 37 18 33751036 33751036 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 18 33751036 33751036 G A SNP ELP2 ENST00000358232 human ensembl 74_37 +1 known missense c.2237 p.C746Y 0.997 superfamily_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 51 0 0 26 9 25.7143 FHOD3 0 genome.wustl.edu 37 18 34320643 34320643 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 18 34320643 34320643 G A SNP FHOD3 ENST00000257209 human ensembl 74_37 +1 known missense c.3076 p.D1026N 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 32 0 0 29 14 32.5581 SETBP1 0 genome.wustl.edu 37 18 42532361 42532361 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 18 42532361 42532361 G A SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.3056 p.R1019H 1.000 smart_AT_hook_DNA-bd_motif smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 84 0 0 49 23 31.9444 SETBP1 0 genome.wustl.edu 37 18 42643182 42643182 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 18 42643182 42643182 A G SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.4310 p.K1437R 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 46 0 0 52 14 21.2121 SLC14A2 0 genome.wustl.edu 37 18 43204734 43204734 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 18 43204734 43204734 G A SNP SLC14A2 ENST00000255226 human ensembl 74_37 +1 known silent c.105 p.P35 1.000 NULL pfam_Urea_transporter - no_errors SLC14A2 HGNC ENSG00000132874 112 0 0 108 43 28.4768 SLC14A2 0 genome.wustl.edu 37 18 43205722 43205722 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 18 43205722 43205722 C T SNP SLC14A2 ENST00000255226 human ensembl 74_37 +1 known silent c.225 p.D75 0.007 NULL pfam_Urea_transporter - no_errors SLC14A2 HGNC ENSG00000132874 50 0 0 24 12 33.3333 CNDP1 0 genome.wustl.edu 37 18 72228119 72228119 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 18 72228119 72228119 C A SNP CNDP1 ENST00000358821 human ensembl 74_37 +1 known missense c.332 p.P111H 1.000 pirsf_GSH_degradosome_DUG1 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1 - no_errors CNDP1 HGNC ENSG00000150656 217 0 0 144 69 32.3944 TSHZ1 0 genome.wustl.edu 37 18 72998924 72998924 + Missense_Mutation SNP A A C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 18 72998924 72998924 A C SNP TSHZ1 ENST00000580243 human ensembl 74_37 +1 known missense c.1562 p.E521A 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 166 0 0 107 58 35.1515 ZNF236 0 genome.wustl.edu 37 18 74672689 74672689 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 18 74672689 74672689 C T SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known missense c.5291 p.A1764V 0.033 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 170 1 0.584795 87 62 41.6107 NFATC1 0 genome.wustl.edu 37 18 77227522 77227522 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 18 77227522 77227522 G A SNP NFATC1 ENST00000427363 human ensembl 74_37 +1 known missense c.2032 p.V678I 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT,prints_NFAT pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC1 HGNC ENSG00000131196 61 0 0 44 30 40.5405 KCNG2 0 genome.wustl.edu 37 18 77623865 77623865 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 18 77623865 77623865 C T SNP KCNG2 ENST00000316249 human ensembl 74_37 +1 known silent c.198 p.R66 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9 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_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv - no_errors KCNG2 HGNC ENSG00000178342 28 0 0 17 17 50 PTPRM 0 genome.wustl.edu 37 18 7949201 7949201 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 18 7949201 7949201 C T SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.686 p.P229L 0.998 pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,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 PTPRM HGNC ENSG00000173482 89 0 0 49 24 32.8767 SOGA2 0 genome.wustl.edu 37 18 8819028 8819028 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 18 8819028 8819028 G A SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known missense c.2927 p.R976H 0.008 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 120 0 0 84 44 34.375 SOGA2 0 genome.wustl.edu 37 18 8825115 8825115 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 18 8825115 8825115 G A SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known missense c.3607 p.D1203N 0.750 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 83 0 0 113 6 5.04202 ICAM1 0 genome.wustl.edu 37 19 10395521 10395521 + Nonsense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 10395521 10395521 C T SNP ICAM1 ENST00000264832 human ensembl 74_37 +1 known nonsense c.1243 p.Q415* 0.754 smart_Ig_sub pfam_ICAM_N,smart_Ig_sub,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM1 HGNC ENSG00000090339 71 0 0 58 21 26.5823 HMHA1 0 genome.wustl.edu 37 19 1081929 1081929 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 1081929 1081929 T C SNP HMHA1 ENST00000313093 human ensembl 74_37 +1 known missense c.2486 p.I829T 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors HMHA1 HGNC ENSG00000180448 43 0 0 41 11 21.1538 SMARCA4 0 genome.wustl.edu 37 19 11138594 11138594 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 11138594 11138594 C T SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.3350 p.A1117V 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 224 0 0 181 17 8.58586 SMARCA4 0 genome.wustl.edu 37 19 11143993 11143993 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 11143993 11143993 C T SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.3574 p.R1192C 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 99 0 0 57 49 46.2264 LDLR 0 genome.wustl.edu 37 19 11223968 11223968 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 11223968 11223968 C A SNP LDLR ENST00000558518 human ensembl 74_37 +1 known missense c.1201 p.L401I 1.000 superfamily_Growth_fac_rcpt_N_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LDLR HGNC ENSG00000130164 70 0 0 37 26 41.2698 ACP5 0 genome.wustl.edu 37 19 11686047 11686047 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 11686047 11686047 G A SNP ACP5 ENST00000218758 human ensembl 74_37 -1 known silent c.756 p.G252 0.056 NULL pfam_PEstase_dom - no_errors ACP5 HGNC ENSG00000102575 63 0 0 52 21 28.7671 ZNF136 0 genome.wustl.edu 37 19 12296983 12296983 + Missense_Mutation SNP A A T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 12296983 12296983 A T SNP ZNF136 ENST00000343979 human ensembl 74_37 +1 known missense c.185 p.N62I 0.828 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 ZNF136 HGNC ENSG00000196646 33 0 0 14 6 30 RNASEH2A 0 genome.wustl.edu 37 19 12920927 12920927 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 12920927 12920927 C T SNP RNASEH2A ENST00000221486 human ensembl 74_37 +1 known missense c.454 p.R152W 0.998 pfam_RNase_HII/HIII_dom,superfamily_RNaseH-like_dom,tigrfam_RNase_H2_suA pfam_RNase_HII/HIII_dom,superfamily_RNaseH-like_dom,tigrfam_RNase_H2_suA - no_errors RNASEH2A HGNC ENSG00000104889 192 0 0 125 67 34.8958 CACNA1A 0 genome.wustl.edu 37 19 13368180 13368180 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 13368180 13368180 C A SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known missense c.4574 p.S1525I 1.000 prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 41 0 0 26 17 39.5349 CACNA1A 0 genome.wustl.edu 37 19 13387910 13387910 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 13387910 13387910 G A SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known silent c.3855 p.G1285 0.099 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 39 0 0 31 19 38 CACNA1A 0 genome.wustl.edu 37 19 13616860 13616860 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 13616860 13616860 G A SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known missense c.179 p.A60V 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 43 0 0 36 16 30.7692 NDUFS7 0 genome.wustl.edu 37 19 1390983 1390983 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 1390983 1390983 G A SNP NDUFS7 ENST00000233627 human ensembl 74_37 +1 known silent c.342 p.P114 0.679 pfam_NADH_UbQ_OxRdtase-like_20kDa,tigrfam_NADH_UQ_OxRdtase_20Kd_su pfam_NADH_UbQ_OxRdtase-like_20kDa,tigrfam_NADH_UQ_OxRdtase_20Kd_su - no_errors NDUFS7 HGNC ENSG00000115286 76 0 0 51 27 34.6154 CD97 0 genome.wustl.edu 37 19 14516664 14516664 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 14516664 14516664 G A SNP CD97 ENST00000242786 human ensembl 74_37 +1 known silent c.1734 p.S578 0.690 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC ENSG00000123146 111 0 0 77 55 41.6667 SYDE1 0 genome.wustl.edu 37 19 15223241 15223241 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 15223241 15223241 G A SNP SYDE1 ENST00000342784 human ensembl 74_37 +1 known missense c.1663 p.V555M 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC ENSG00000105137 17 0 0 13 10 43.4783 BRD4 0 genome.wustl.edu 37 19 15376438 15376438 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 15376438 15376438 G A SNP BRD4 ENST00000263377 human ensembl 74_37 -1 known silent c.576 p.G192 0.911 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 314 0 0 148 89 37.5527 MEX3D 0 genome.wustl.edu 37 19 1556759 1556759 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 1556759 1556759 C T SNP MEX3D ENST00000388824 human ensembl 74_37 -1 known silent c.759 p.T253 0.377 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3D HGNC ENSG00000181588 57 0 0 53 27 33.75 CYP4F3 0 genome.wustl.edu 37 19 15760964 15760964 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 15760964 15760964 G T SNP CYP4F3 ENST00000221307 human ensembl 74_37 +1 known missense c.889 p.D297Y 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F3 HGNC ENSG00000186529 84 0 0 50 25 33.3333 CYP4F2 0 genome.wustl.edu 37 19 16003198 16003198 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 16003198 16003198 C T SNP CYP4F2 ENST00000221700 human ensembl 74_37 -1 known missense c.446 p.R149Q 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F2 HGNC ENSG00000186115 123 0 0 83 43 34.127 OR10H4 0 genome.wustl.edu 37 19 16060236 16060236 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 16060236 16060236 G A SNP OR10H4 ENST00000322107 human ensembl 74_37 +1 known missense c.419 p.R140H 0.000 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 OR10H4 HGNC ENSG00000176231 120 0 0 100 60 37.5 F2RL3 0 genome.wustl.edu 37 19 17000816 17000816 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 17000816 17000816 C T SNP F2RL3 ENST00000248076 human ensembl 74_37 +1 known missense c.542 p.P181L 1.000 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_Prot_act_rcpt_4,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors F2RL3 HGNC ENSG00000127533 22 0 0 10 14 58.3333 CPAMD8 0 genome.wustl.edu 37 19 17057980 17057980 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 17057980 17057980 G A SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.2707 p.R903C 1.000 NULL 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 291 0 0 209 59 22.0149 MYO9B 0 genome.wustl.edu 37 19 17313014 17313014 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 17313014 17313014 C T SNP MYO9B ENST00000594824 human ensembl 74_37 +1 known missense c.4738 p.R1580C 0.952 NULL 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 33 0 0 32 12 27.2727 ANO8 0 genome.wustl.edu 37 19 17438570 17438570 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 17438570 17438570 G A SNP ANO8 ENST00000159087 human ensembl 74_37 -1 known silent c.2346 p.S782 0.808 pfam_Anoctamin pfam_Anoctamin - no_errors ANO8 HGNC ENSG00000074855 113 0 0 114 8 6.55738 ENSG00000268032 0 genome.wustl.edu 37 19 18141733 18141733 + RNA SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 18141733 18141733 C A SNP ENSG00000268032 ENST00000594957 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CTB-52I2.4 Clone_based_vega_gene ENSG00000268032 69 0 0 57 28 32.9412 MAST3 0 genome.wustl.edu 37 19 18234816 18234816 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 18234816 18234816 C T SNP MAST3 ENST00000262811 human ensembl 74_37 +1 known missense c.614 p.A205V 1.000 pfam_MA_Ser/Thr_Kinase_dom,superfamily_MAST_pre-PK_dom 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 MAST3 HGNC ENSG00000099308 10 0 0 8 7 46.6667 MAST3 0 genome.wustl.edu 37 19 18245637 18245637 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 18245637 18245637 C T SNP MAST3 ENST00000262811 human ensembl 74_37 +1 known missense c.1628 p.T543M 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_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 MAST3 HGNC ENSG00000099308 48 0 0 40 16 28.5714 REXO1 0 genome.wustl.edu 37 19 1826907 1826907 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 1826907 1826907 C T SNP REXO1 ENST00000170168 human ensembl 74_37 -1 known silent c.1881 p.K627 0.989 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1 HGNC ENSG00000079313 10 0 0 5 5 50 KLF16 0 genome.wustl.edu 37 19 1854671 1854671 + Silent SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 1854671 1854671 C A SNP KLF16 ENST00000250916 human ensembl 74_37 -1 known silent c.546 p.T182 0.083 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF16 HGNC ENSG00000129911 54 0 0 34 29 46.0317 ENSG00000268938 0 genome.wustl.edu 37 19 18643374 18643374 + RNA SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 18643374 18643374 G A SNP ENSG00000268938 ENST00000597837 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC005387.3 Clone_based_vega_gene ENSG00000268938 18 0 0 18 8 30.7692 KLHL26 0 genome.wustl.edu 37 19 18779360 18779360 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 18779360 18779360 C T SNP KLHL26 ENST00000300976 human ensembl 74_37 +1 known missense c.1153 p.R385C 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL26 HGNC ENSG00000167487 36 0 0 25 19 43.1818 CRTC1 0 genome.wustl.edu 37 19 18856697 18856697 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 18856697 18856697 G T SNP CRTC1 ENST00000338797 human ensembl 74_37 +1 known missense c.356 p.R119M 1.000 NULL NULL - no_errors CRTC1 HGNC ENSG00000105662 154 0 0 95 24 20.1681 RFXANK 0 genome.wustl.edu 37 19 19308955 19308955 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 19308955 19308955 G A SNP RFXANK ENST00000303088 human ensembl 74_37 +1 known missense c.478 p.A160T 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_DNA-bd_RFXANK,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_DNA-bd_RFXANK,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors RFXANK HGNC ENSG00000064490 171 0 0 112 65 36.7232 TM6SF2 0 genome.wustl.edu 37 19 19381909 19381909 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 19381909 19381909 C T SNP TM6SF2 ENST00000389363 human ensembl 74_37 -1 known missense c.121 p.A41T 0.041 NULL pfam_Transmembrane_6/97 - no_errors TM6SF2 HGNC ENSG00000213996 145 0 0 119 50 29.5858 CILP2 0 genome.wustl.edu 37 19 19655921 19655921 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 19655921 19655921 G A SNP CILP2 ENST00000291495 human ensembl 74_37 +1 known missense c.2567 p.R856H 0.631 NULL 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 80 0 0 49 30 37.9747 ZNF14 0 genome.wustl.edu 37 19 19822871 19822871 + Nonsense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 19822871 19822871 G A SNP ZNF14 ENST00000344099 human ensembl 74_37 -1 known nonsense c.1219 p.R407* 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 ZNF14 HGNC ENSG00000105708 126 0 0 66 41 38.3178 SF3A2 0 genome.wustl.edu 37 19 2246901 2246901 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 2246901 2246901 C T SNP SF3A2 ENST00000221494 human ensembl 74_37 +1 known silent c.426 p.A142 0.434 NULL smart_Znf_U1,pfscan_Znf_C2H2_matrin - no_errors SF3A2 HGNC ENSG00000104897 65 0 0 41 19 31.6667 ZNF729 0 genome.wustl.edu 37 19 22497680 22497680 + Silent SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 22497680 22497680 C A SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel silent c.1461 p.P487 0.352 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 ZNF729 HGNC ENSG00000196350 44 0 0 39 14 26.4151 JSRP1 0 genome.wustl.edu 37 19 2252349 2252349 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 2252349 2252349 G A SNP JSRP1 ENST00000300961 human ensembl 74_37 -1 known silent c.975 p.R325 0.000 NULL NULL - no_errors JSRP1 HGNC ENSG00000167476 8 0 0 13 3 18.75 C19orf35 0 genome.wustl.edu 37 19 2280892 2280892 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 2280892 2280892 G A SNP C19orf35 ENST00000342063 human ensembl 74_37 -1 known silent c.39 p.P13 0.001 NULL NULL - no_errors C19orf35 HGNC ENSG00000188305 34 0 0 25 13 34.2105 ZNF91 0 genome.wustl.edu 37 19 23543328 23543328 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 23543328 23543328 G A SNP ZNF91 ENST00000300619 human ensembl 74_37 -1 known missense c.2453 p.T818I 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 ZNF91 HGNC ENSG00000167232 68 0 0 47 13 21.6667 ZNF91 0 genome.wustl.edu 37 19 23543336 23543336 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 23543336 23543336 C T SNP ZNF91 ENST00000300619 human ensembl 74_37 -1 known silent c.2445 p.K815 0.001 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 ZNF91 HGNC ENSG00000167232 66 0 0 42 10 19.2308 ZNF91 0 genome.wustl.edu 37 19 23544220 23544220 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 23544220 23544220 C T SNP ZNF91 ENST00000300619 human ensembl 74_37 -1 known missense c.1561 p.E521K 0.004 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 ZNF91 HGNC ENSG00000167232 48 0 0 31 8 20.5128 RPSAP58 0 genome.wustl.edu 37 19 24010261 24010261 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 24010261 24010261 G A SNP RPSAP58 ENST00000354585 human ensembl 74_37 +1 known missense c.298 p.A100T 1.000 pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2,tigrfam_Ribosomal_S2_euk/arc pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2,tigrfam_Ribosomal_S2_euk/arc - no_errors RPSAP58 HGNC ENSG00000205246 51 0 0 33 15 31.25 ZNF57 0 genome.wustl.edu 37 19 2916959 2916959 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 2916959 2916959 G T SNP ZNF57 ENST00000306908 human ensembl 74_37 +1 known missense c.340 p.G114C 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 ZNF57 HGNC ENSG00000171970 88 0 0 34 16 32 C19orf12 0 genome.wustl.edu 37 19 30193641 30193641 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 30193641 30193641 G A SNP C19orf12 ENST00000392278 human ensembl 74_37 -1 known missense c.437 p.A146V 0.990 NULL NULL - no_errors C19orf12 HGNC ENSG00000131943 66 0 0 45 26 36.6197 ZNF536 0 genome.wustl.edu 37 19 31040213 31040213 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 31040213 31040213 G A SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known silent c.3687 p.P1229 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 60 0 0 32 24 42.8571 NCLN 0 genome.wustl.edu 37 19 3207221 3207221 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 3207221 3207221 C A SNP NCLN ENST00000246117 human ensembl 74_37 +1 known missense c.1525 p.Q509K 1.000 pirsf_Nicalin pfam_Peptidase_M28,pfam_Nicastrin,pirsf_Nicalin - no_errors NCLN HGNC ENSG00000125912 181 0 0 84 54 39.1304 MAG 0 genome.wustl.edu 37 19 35786621 35786621 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 35786621 35786621 G A SNP MAG ENST00000392213 human ensembl 74_37 +1 known missense c.152 p.R51Q 1.000 smart_Ig_sub pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MAG HGNC ENSG00000105695 109 0 0 79 44 35.7724 KMT2B 0 genome.wustl.edu 37 19 36228111 36228111 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 36228111 36228111 G A SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known silent c.7497 p.Q2499 1.000 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 15 0 0 13 6 31.5789 NFKBID 0 genome.wustl.edu 37 19 36380850 36380850 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 36380850 36380850 C T SNP NFKBID ENST00000352614 human ensembl 74_37 -1 known missense c.1286 p.R429H 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors NFKBID HGNC ENSG00000167604 88 0 0 43 28 39.4366 LRFN3 0 genome.wustl.edu 37 19 36430728 36430728 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 36430728 36430728 G A SNP LRFN3 ENST00000246529 human ensembl 74_37 +1 known missense c.401 p.R134H 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,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 LRFN3 HGNC ENSG00000126243 67 0 0 52 28 35 WDR62 0 genome.wustl.edu 37 19 36579994 36579994 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 36579994 36579994 G A SNP WDR62 ENST00000401500 human ensembl 74_37 +1 known missense c.1823 p.R608H 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 WDR62 HGNC ENSG00000075702 63 0 0 34 28 45.1613 APBA3 0 genome.wustl.edu 37 19 3751226 3751226 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 3751226 3751226 G A SNP APBA3 ENST00000316757 human ensembl 74_37 -1 known silent c.1617 p.H539 0.847 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA3 HGNC ENSG00000011132 8 0 0 7 2 22.2222 CAPN12 0 genome.wustl.edu 37 19 39229238 39229238 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 39229238 39229238 C T SNP CAPN12 ENST00000328867 human ensembl 74_37 -1 known silent c.780 p.A260 0.027 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN12 HGNC ENSG00000182472 76 0 0 47 17 26.5625 ECH1 0 genome.wustl.edu 37 19 39306274 39306274 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 39306274 39306274 G A SNP ECH1 ENST00000221418 human ensembl 74_37 -1 known silent c.966 p.T322 0.000 NULL pfam_Crotonase_core_superfam - no_errors ECH1 HGNC ENSG00000104823 58 0 0 37 10 21.2766 HNRNPL 0 genome.wustl.edu 37 19 39329104 39329104 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 39329104 39329104 T C SNP HNRNPL ENST00000221419 human ensembl 74_37 -1 known missense c.1490 p.Q497R 1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRNPL HGNC ENSG00000104824 47 0 0 41 18 30.5085 TIMM50 0 genome.wustl.edu 37 19 39976855 39976855 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 39976855 39976855 G A SNP TIMM50 ENST00000314349 human ensembl 74_37 +1 known missense c.830 p.R277H 1.000 pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF - no_errors TIMM50 HGNC ENSG00000105197 518 0 0 347 117 25.2155 PIAS4 0 genome.wustl.edu 37 19 4037447 4037447 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 4037447 4037447 G A SNP PIAS4 ENST00000262971 human ensembl 74_37 +1 known silent c.1218 p.P406 0.010 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS4 HGNC ENSG00000105229 31 0 0 28 10 26.3158 TTC9B 0 genome.wustl.edu 37 19 40724061 40724061 + Silent SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 40724061 40724061 A G SNP TTC9B ENST00000311308 human ensembl 74_37 -1 known silent c.228 p.Y76 1.000 smart_TPR_repeat pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC9B HGNC ENSG00000174521 41 0 0 22 26 54.1667 HIPK4 0 genome.wustl.edu 37 19 40886445 40886445 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 40886445 40886445 G A SNP HIPK4 ENST00000291823 human ensembl 74_37 -1 known missense c.1453 p.R485C 0.999 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 HIPK4 HGNC ENSG00000160396 181 0 0 136 66 32.6733 HIPK4 0 genome.wustl.edu 37 19 40895662 40895662 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 40895662 40895662 G A SNP HIPK4 ENST00000291823 human ensembl 74_37 -1 known missense c.148 p.R50C 0.938 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 HIPK4 HGNC ENSG00000160396 188 0 0 123 78 38.806 CYP2B6 0 genome.wustl.edu 37 19 41522587 41522587 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 41522587 41522587 C T SNP CYP2B6 ENST00000324071 human ensembl 74_37 +1 known missense c.1331 p.A444V 0.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2A-like - no_errors CYP2B6 HGNC ENSG00000197408 58 0 0 27 19 41.3043 PSG10P 0 genome.wustl.edu 37 19 43348583 43348583 + RNA SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 43348583 43348583 G A SNP PSG10P ENST00000597171 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PSG10P HGNC ENSG00000248257 336 0 0 198 111 35.9223 SH3GL1 0 genome.wustl.edu 37 19 4362734 4362734 + Splice_Site SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 4362734 4362734 C A SNP SH3GL1 ENST00000269886 human ensembl 74_37 -1 known splice_site c.729-1 e8-1 1.000 - - - no_errors SH3GL1 HGNC ENSG00000141985 102 0 0 61 46 42.9907 ENSG00000269583 0 genome.wustl.edu 37 19 44079013 44079013 + RNA SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 44079013 44079013 C T SNP ENSG00000269583 ENST00000600242 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors L34079.4 Clone_based_vega_gene ENSG00000269583 31 0 0 14 15 51.7241 UBXN6 0 genome.wustl.edu 37 19 4446528 4446528 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 4446528 4446528 C T SNP UBXN6 ENST00000301281 human ensembl 74_37 -1 known missense c.889 p.A297T 0.438 NULL pfam_PUB_domain,pfam_UBX,smart_PUG-dom,smart_UBX,pfscan_UBX - no_errors UBXN6 HGNC ENSG00000167671 60 0 0 30 14 31.8182 RELB 0 genome.wustl.edu 37 19 45532169 45532169 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 45532169 45532169 C T SNP RELB ENST00000221452 human ensembl 74_37 +1 known missense c.910 p.R304W 1.000 superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT 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 8 0 0 11 2 15.3846 TMEM143 0 genome.wustl.edu 37 19 48846619 48846619 + Silent SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 48846619 48846619 G T SNP TMEM143 ENST00000293261 human ensembl 74_37 -1 known silent c.654 p.G218 0.685 NULL pfam_DUF3754 - no_errors TMEM143 HGNC ENSG00000161558 26 0 0 26 3 10.3448 FUT1 0 genome.wustl.edu 37 19 49253486 49253486 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 49253486 49253486 G A SNP FUT1 ENST00000310160 human ensembl 74_37 -1 known silent c.1053 p.G351 0.996 pfam_Glyco_trans_11 pfam_Glyco_trans_11 - no_errors FUT1 HGNC ENSG00000174951 23 0 0 23 7 23.3333 NUCB1 0 genome.wustl.edu 37 19 49409052 49409052 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 49409052 49409052 G A SNP NUCB1 ENST00000263273 human ensembl 74_37 +1 known missense c.286 p.V96I 0.989 NULL pfscan_EF_hand_dom - no_errors NUCB1 HGNC ENSG00000104805 102 0 0 60 29 32.5843 GYS1 0 genome.wustl.edu 37 19 49488801 49488801 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 49488801 49488801 G A SNP GYS1 ENST00000323798 human ensembl 74_37 -1 known missense c.740 p.A247V 0.997 pfam_Glycogen_synth,pfam_Starch_synth_cat_dom pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom - no_errors GYS1 HGNC ENSG00000104812 77 0 0 48 32 40 RUVBL2 0 genome.wustl.edu 37 19 49514455 49514455 + Missense_Mutation SNP T T G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 49514455 49514455 T G SNP RUVBL2 ENST00000595090 human ensembl 74_37 +1 known missense c.889 p.F297V 1.000 pfam_TIP49_C,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_TIP49_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase,prints_DNA_repair_RadA - no_errors RUVBL2 HGNC ENSG00000183207 60 0 0 57 29 33.7209 TRPM4 0 genome.wustl.edu 37 19 49685991 49685991 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 49685991 49685991 C T SNP TRPM4 ENST00000252826 human ensembl 74_37 +1 known missense c.1420 p.R474C 0.211 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 65 0 0 68 7 9.33333 TSKS 0 genome.wustl.edu 37 19 50247622 50247622 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 50247622 50247622 G A SNP TSKS ENST00000246801 human ensembl 74_37 -1 known silent c.1227 p.S409 0.996 NULL NULL - no_errors TSKS HGNC ENSG00000126467 94 0 0 76 29 27.619 TSKS 0 genome.wustl.edu 37 19 50265289 50265289 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 50265289 50265289 G A SNP TSKS ENST00000246801 human ensembl 74_37 -1 known missense c.371 p.P124L 0.084 NULL NULL - no_errors TSKS HGNC ENSG00000126467 99 0 0 44 31 41.3333 SHANK1 0 genome.wustl.edu 37 19 51170213 51170213 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 51170213 51170213 C T SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known silent c.5028 p.P1676 0.565 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 17 0 0 16 19 54.2857 HAS1 0 genome.wustl.edu 37 19 52216788 52216788 + Silent SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 52216788 52216788 C A SNP HAS1 ENST00000601714 human ensembl 74_37 -1 known silent c.1650 p.A550 0.018 NULL pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS1 HGNC ENSG00000105509 16 0 0 6 5 45.4545 FPR2 0 genome.wustl.edu 37 19 52272458 52272458 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 52272458 52272458 T C SNP FPR2 ENST00000340023 human ensembl 74_37 +1 known missense c.547 p.W183R 0.938 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_DEZorph_rcpt - no_errors FPR2 HGNC ENSG00000171049 129 0 0 58 37 38.9474 ZNF845 0 genome.wustl.edu 37 19 53855384 53855384 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 53855384 53855384 C T SNP ZNF845 ENST00000458035 human ensembl 74_37 +1 known missense c.1456 p.R486C 0.382 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 ZNF845 HGNC ENSG00000213799 75 0 0 31 60 65.9341 NLRP12 0 genome.wustl.edu 37 19 54313274 54313274 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 54313274 54313274 C T SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known missense c.1639 p.E547K 0.006 NULL 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 NLRP12 HGNC ENSG00000142405 157 0 0 153 9 5.55556 LOC101928780 0 genome.wustl.edu 37 19 54627018 54627018 + RNA SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 54627018 54627018 C T SNP LOC101928780 ENST00000452097 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC012314.8 Clone_based_vega_gene ENSG00000237017 20 0 0 19 16 45.7143 LILRA4 0 genome.wustl.edu 37 19 54849400 54849400 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 54849400 54849400 C T SNP LILRA4 ENST00000291759 human ensembl 74_37 -1 known silent c.462 p.L154 0.019 smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA4 HGNC ENSG00000239961 59 0 0 29 19 39.5833 KIR3DL2 0 genome.wustl.edu 37 19 55378013 55378013 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 55378013 55378013 G A SNP KIR3DL2 ENST00000326321 human ensembl 74_37 +1 known missense c.1195 p.A399T 0.005 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DL2 HGNC ENSG00000240403 297 1 0.33557 232 117 33.5244 SUV420H2 0 genome.wustl.edu 37 19 55856021 55856021 + RNA SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 55856021 55856021 C T SNP SUV420H2 ENST00000402499 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SUV420H2 HGNC ENSG00000133247 11 0 0 12 9 42.8571 EPN1 0 genome.wustl.edu 37 19 56203330 56203330 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 56203330 56203330 G A SNP EPN1 ENST00000411543 human ensembl 74_37 +1 known missense c.1231 p.A411T 0.529 NULL pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN1 HGNC ENSG00000063245 11 0 0 16 4 20 ZNF416 0 genome.wustl.edu 37 19 58084689 58084689 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 58084689 58084689 A G SNP ZNF416 ENST00000196489 human ensembl 74_37 -1 known missense c.583 p.Y195H 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 ZNF416 HGNC ENSG00000083817 92 0 0 55 43 43.8776 ZNF671 0 genome.wustl.edu 37 19 58238780 58238780 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 58238780 58238780 C T SNP ZNF671 ENST00000317398 human ensembl 74_37 -1 known silent c.117 p.A39 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 ZNF671 HGNC ENSG00000083814 24 0 0 7 31 81.5789 TRIM28 0 genome.wustl.edu 37 19 59061548 59061548 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 59061548 59061548 T C SNP TRIM28 ENST00000253024 human ensembl 74_37 +1 known missense c.2228 p.I743T 0.999 superfamily_Bromodomain,smart_Bromodomain pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors TRIM28 HGNC ENSG00000130726 57 0 0 45 18 28.5714 PRSS57 0 genome.wustl.edu 37 19 694872 694872 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 694872 694872 C T SNP PRSS57 ENST00000329267 human ensembl 74_37 -1 known missense c.178 p.G60R 0.995 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS57 HGNC ENSG00000185198 22 0 0 12 5 29.4118 XAB2 0 genome.wustl.edu 37 19 7692180 7692180 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 7692180 7692180 G A SNP XAB2 ENST00000358368 human ensembl 74_37 -1 known silent c.471 p.R157 0.944 smart_HAT smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 54 0 0 44 13 22.807 LRRC8E 0 genome.wustl.edu 37 19 7963908 7963908 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 7963908 7963908 C T SNP LRRC8E ENST00000306708 human ensembl 74_37 +1 known silent c.501 p.S167 0.002 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8E HGNC ENSG00000171017 151 0 0 82 47 36.4341 LPPR3 0 genome.wustl.edu 37 19 813534 813534 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 813534 813534 G A SNP LPPR3 ENST00000359894 human ensembl 74_37 -1 known missense c.1277 p.P426L 0.994 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR3 Uniprot_gn ENSG00000129951 10 0 0 6 7 53.8462 ADAMTS10 0 genome.wustl.edu 37 19 8666009 8666009 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 8666009 8666009 G A SNP ADAMTS10 ENST00000270328 human ensembl 74_37 -1 known missense c.613 p.R205W 0.982 NULL pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ENSG00000142303 55 0 0 40 21 34.4262 MUC16 0 genome.wustl.edu 37 19 9016990 9016990 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 9016990 9016990 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.38005 p.T12669A 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 66 0 0 70 4 5.40541 MUC16 0 genome.wustl.edu 37 19 9049263 9049263 + Missense_Mutation SNP A A T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 9049263 9049263 A T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.32368 p.S10790T 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 142 0 0 99 48 32.6531 UXS1 0 genome.wustl.edu 37 2 106761649 106761649 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 106761649 106761649 C T SNP UXS1 ENST00000283148 human ensembl 74_37 -1 known missense c.469 p.E157K 1.000 pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_3Beta_OHSteriod_DH/Estase pfam_Epimerase_deHydtase,pfam_UXS1_N,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_3Beta_OHSteriod_DH/Estase - no_errors UXS1 HGNC ENSG00000115652 49 0 0 37 14 27.451 ENSG00000273471 0 genome.wustl.edu 37 2 111144370 111144370 + RNA SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 111144370 111144370 T C SNP ENSG00000273471 ENST00000488671 human ensembl 74_37 -1 known rna NULL NULL 0.993 - - - no_errors RP13-1039J1.4 Clone_based_vega_gene ENSG00000273471 10 0 0 7 4 36.3636 STEAP3 0 genome.wustl.edu 37 2 120005698 120005698 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 120005698 120005698 C T SNP STEAP3 ENST00000393110 human ensembl 74_37 +1 known silent c.966 p.C322 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Fe3_Rdtase_TM_dom - no_errors STEAP3 HGNC ENSG00000115107 57 0 0 37 24 39.3443 GLI2 0 genome.wustl.edu 37 2 121740422 121740422 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 121740422 121740422 G A SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known missense c.1649 p.R550H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 101 0 0 91 47 34.058 GLI2 0 genome.wustl.edu 37 2 121743883 121743883 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 121743883 121743883 G A SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known silent c.1986 p.S662 0.014 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 54 0 0 45 4 8.16327 CLASP1 0 genome.wustl.edu 37 2 122165239 122165239 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 122165239 122165239 T C SNP CLASP1 ENST00000263710 human ensembl 74_37 -1 known missense c.2477 p.D826G 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP1 HGNC ENSG00000074054 114 0 0 102 49 32.4503 BIN1 0 genome.wustl.edu 37 2 127808729 127808729 + Splice_Site SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 127808729 127808729 C T SNP BIN1 ENST00000316724 human ensembl 74_37 -1 known splice_site c.1461+1 e16+1 1.000 - - - no_errors BIN1 HGNC ENSG00000136717 87 0 0 49 23 31.9444 BIN1 0 genome.wustl.edu 37 2 127828152 127828152 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 127828152 127828152 C A SNP BIN1 ENST00000316724 human ensembl 74_37 -1 known missense c.292 p.D98Y 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_2,prints_SH3_domain - no_errors BIN1 HGNC ENSG00000136717 176 0 0 106 56 34.5679 HS6ST1 0 genome.wustl.edu 37 2 129075996 129075996 + Missense_Mutation SNP G G C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 129075996 129075996 G C SNP HS6ST1 ENST00000259241 human ensembl 74_37 -1 known missense c.142 p.R48G 1.000 NULL pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST1 HGNC ENSG00000136720 20 0 0 24 7 22.5806 IMP4 0 genome.wustl.edu 37 2 131103230 131103230 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 131103230 131103230 G A SNP IMP4 ENST00000259239 human ensembl 74_37 +1 known missense c.397 p.V133I 1.000 pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix - no_errors IMP4 HGNC ENSG00000136718 54 0 0 51 26 33.7662 LCT 0 genome.wustl.edu 37 2 136548299 136548299 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 136548299 136548299 C T SNP LCT ENST00000264162 human ensembl 74_37 -1 known missense c.5264 p.R1755Q 0.940 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 60 0 0 34 17 33.3333 LCT 0 genome.wustl.edu 37 2 136567157 136567157 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 136567157 136567157 G A SNP LCT ENST00000264162 human ensembl 74_37 -1 known silent c.2760 p.G920 0.992 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 92 0 0 56 22 28.2051 LCT 0 genome.wustl.edu 37 2 136594315 136594315 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 136594315 136594315 C T SNP LCT ENST00000264162 human ensembl 74_37 -1 known missense c.425 p.R142Q 0.002 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 61 0 0 49 25 33.7838 LRP1B 0 genome.wustl.edu 37 2 141773397 141773397 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 141773397 141773397 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.2058 p.R686 0.990 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_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 102 0 0 52 32 38.0952 NEB 0 genome.wustl.edu 37 2 152342438 152342438 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 152342438 152342438 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.25414 p.R8472C 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain 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 49 0 0 75 4 5.06329 NEB 0 genome.wustl.edu 37 2 152426860 152426860 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 152426860 152426860 C T SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.17165 p.G5722D 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 36 0 0 15 9 37.5 NBAS 0 genome.wustl.edu 37 2 15326941 15326941 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 15326941 15326941 G T SNP NBAS ENST00000281513 human ensembl 74_37 -1 known missense c.6636 p.N2212K 1.000 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 119 0 0 41 24 36.9231 PKP4 0 genome.wustl.edu 37 2 159481624 159481624 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 159481624 159481624 G A SNP PKP4 ENST00000389759 human ensembl 74_37 +1 known missense c.838 p.A280T 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP4 HGNC ENSG00000144283 49 0 0 46 25 35.2113 IFIH1 0 genome.wustl.edu 37 2 163138979 163138979 + Silent SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 163138979 163138979 T C SNP IFIH1 ENST00000263642 human ensembl 74_37 -1 known silent c.1203 p.P401 0.862 pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors IFIH1 HGNC ENSG00000115267 64 0 0 33 19 36.5385 GALNT3 0 genome.wustl.edu 37 2 166606314 166606314 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 166606314 166606314 C T SNP GALNT3 ENST00000392701 human ensembl 74_37 -1 known missense c.1717 p.A573T 0.967 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT3 HGNC ENSG00000115339 218 0 0 111 24 17.7778 SCN1A 0 genome.wustl.edu 37 2 166848219 166848219 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 166848219 166848219 T C SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.5566 p.M1856V 1.000 NULL 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 124 0 0 112 49 30.4348 LRP2 0 genome.wustl.edu 37 2 170097611 170097611 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 170097611 170097611 C T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.3932 p.R1311H 0.967 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,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 LRP2 HGNC ENSG00000081479 103 0 0 89 8 8.24742 CCDC173 0 genome.wustl.edu 37 2 170537614 170537614 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 170537614 170537614 G T SNP CCDC173 ENST00000447353 human ensembl 74_37 -1 known missense c.197 p.T66K 0.998 NULL NULL - no_errors CCDC173 HGNC ENSG00000154479 125 0 0 62 22 26.1905 TLK1 0 genome.wustl.edu 37 2 171867901 171867901 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 171867901 171867901 G A SNP TLK1 ENST00000431350 human ensembl 74_37 -1 known silent c.1398 p.G466 0.998 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 TLK1 HGNC ENSG00000198586 75 0 0 28 11 28.2051 HOXD13 0 genome.wustl.edu 37 2 176958274 176958274 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 176958274 176958274 G A SNP HOXD13 ENST00000392539 human ensembl 74_37 +1 putative missense c.656 p.R219Q 1.000 NULL pfam_Homeobox_dom,pfam_HoxA13_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOXD13 HGNC ENSG00000128714 123 0 0 90 45 33.3333 HOXD13 0 genome.wustl.edu 37 2 176959377 176959377 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 176959377 176959377 G T SNP HOXD13 ENST00000392539 human ensembl 74_37 +1 putative missense c.951 p.E317D 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_HoxA13_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOXD13 HGNC ENSG00000128714 77 0 0 35 15 30 HOXD10 0 genome.wustl.edu 37 2 176973578 176973578 + RNA SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 176973578 176973578 C T SNP HOXD10 ENST00000490088 human ensembl 74_37 +1 known rna NULL NULL 0.133 - - - no_errors HOXD10 HGNC ENSG00000128710 9 0 0 5 9 64.2857 VSNL1 0 genome.wustl.edu 37 2 17773346 17773346 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 17773346 17773346 G T SNP VSNL1 ENST00000295156 human ensembl 74_37 +1 known missense c.5 p.G2V 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors VSNL1 HGNC ENSG00000163032 103 0 0 51 26 33.7662 TTN 0 genome.wustl.edu 37 2 179395823 179395823 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 179395823 179395823 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.97815 p.A32605 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,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 277 0 0 210 54 20.4545 TTN 0 genome.wustl.edu 37 2 179414508 179414508 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 179414508 179414508 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.84237 p.D28079 0.209 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 86 0 0 49 32 39.5062 TTN 0 genome.wustl.edu 37 2 179427631 179427631 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 179427631 179427631 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.75524 p.R25175Q 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,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 44 0 0 18 6 25 TTN 0 genome.wustl.edu 37 2 179436307 179436307 + Missense_Mutation SNP G G C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 179436307 179436307 G C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.66848 p.T22283S 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 29 0 0 16 11 40.7407 TTN 0 genome.wustl.edu 37 2 179584466 179584466 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 179584466 179584466 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.20021 p.L6674P 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,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 76 0 0 32 30 48.3871 TTN 0 genome.wustl.edu 37 2 179596254 179596254 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 179596254 179596254 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.13507 p.A4503T 0.997 pfam_Ig_I-set,superfamily_RNaseH-like_dom,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 41 0 0 37 12 24.4898 PDE1A 0 genome.wustl.edu 37 2 183095853 183095853 + Silent SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 183095853 183095853 A G SNP PDE1A ENST00000456212 human ensembl 74_37 -1 known silent c.471 p.V157 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1A HGNC ENSG00000115252 124 0 0 42 25 37.3134 COL3A1 0 genome.wustl.edu 37 2 189875616 189875616 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 189875616 189875616 G A SNP COL3A1 ENST00000304636 human ensembl 74_37 +1 known silent c.4254 p.T1418 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C 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 COL3A1 HGNC ENSG00000168542 144 0 0 75 26 25.7426 SLC39A10 0 genome.wustl.edu 37 2 196571395 196571395 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 196571395 196571395 C T SNP SLC39A10 ENST00000359634 human ensembl 74_37 +1 known silent c.1272 p.G424 0.970 pfam_ZIP pfam_ZIP - no_errors SLC39A10 HGNC ENSG00000196950 60 0 0 19 13 40.625 HECW2 0 genome.wustl.edu 37 2 197183693 197183693 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 197183693 197183693 C T SNP HECW2 ENST00000260983 human ensembl 74_37 -1 known missense c.1921 p.A641T 0.240 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 HECW2 HGNC ENSG00000138411 37 0 0 62 23 27.0588 SPATS2L 0 genome.wustl.edu 37 2 201342742 201342742 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 201342742 201342742 G A SNP SPATS2L ENST00000409755 human ensembl 74_37 +1 known silent c.1755 p.T585 0.794 NULL pfam_DUF1387,superfamily_UBA-like - no_errors SPATS2L HGNC ENSG00000196141 46 0 0 50 10 16.6667 KCTD18 0 genome.wustl.edu 37 2 201362558 201362558 + Missense_Mutation SNP A A T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 201362558 201362558 A T SNP KCTD18 ENST00000359878 human ensembl 74_37 -1 known missense c.579 p.N193K 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD18 HGNC ENSG00000155729 177 0 0 52 38 42.2222 BZW1 0 genome.wustl.edu 37 2 201683003 201683003 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 201683003 201683003 G A SNP BZW1 ENST00000409600 human ensembl 74_37 +1 known missense c.706 p.A236T 1.000 NULL pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain - no_errors BZW1 HGNC ENSG00000082153 21 0 0 6 7 53.8462 STRADB 0 genome.wustl.edu 37 2 202337717 202337717 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 202337717 202337717 G A SNP STRADB ENST00000194530 human ensembl 74_37 +1 known missense c.233 p.R78Q 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 STRADB HGNC ENSG00000082146 161 1 0.617284 64 38 37.2549 FZD7 0 genome.wustl.edu 37 2 202900121 202900121 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 202900121 202900121 C T SNP FZD7 ENST00000286201 human ensembl 74_37 +1 known missense c.751 p.R251C 1.000 pfam_Frizzled 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 121 0 0 69 30 30.303 FZD7 0 genome.wustl.edu 37 2 202900156 202900156 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 202900156 202900156 G A SNP FZD7 ENST00000286201 human ensembl 74_37 +1 known silent c.786 p.V262 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 FZD7 HGNC ENSG00000155760 234 0 0 144 73 33.6406 CD28 0 genome.wustl.edu 37 2 204571310 204571310 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 204571310 204571310 G A SNP CD28 ENST00000458610 human ensembl 74_37 +1 putative missense c.64 p.V22M 0.000 NULL pfam_Ig_V-set,smart_Ig_V-set_subgr,prints_CD28 - no_errors CD28 HGNC ENSG00000178562 12 0 0 12 4 25 FZD5 0 genome.wustl.edu 37 2 208631836 208631836 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 208631836 208631836 C T SNP FZD5 ENST00000295417 human ensembl 74_37 -1 known missense c.1628 p.R543H 1.000 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD5 HGNC ENSG00000163251 11 0 0 11 6 35.2941 SMARCAL1 0 genome.wustl.edu 37 2 217315719 217315719 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 217315719 217315719 C T SNP SMARCAL1 ENST00000357276 human ensembl 74_37 +1 known missense c.2002 p.R668W 0.889 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_HARP_dom,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 SMARCAL1 HGNC ENSG00000138375 79 0 0 51 30 37.037 VIL1 0 genome.wustl.edu 37 2 219301941 219301941 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 219301941 219301941 G A SNP VIL1 ENST00000248444 human ensembl 74_37 +1 known missense c.2066 p.R689H 0.999 pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_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 147 0 0 70 69 49.6403 PLCD4 0 genome.wustl.edu 37 2 219492818 219492818 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 219492818 219492818 T C SNP PLCD4 ENST00000417849 human ensembl 74_37 +1 known missense c.839 p.I280T 1.000 pfam_PLipase_C_EF-hand-like 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 PLCD4 HGNC ENSG00000115556 109 0 0 70 35 33.3333 CCDC108 0 genome.wustl.edu 37 2 219893036 219893036 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 219893036 219893036 G A SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known missense c.1738 p.R580C 0.968 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 130 0 0 82 45 35.4331 CCDC108 0 genome.wustl.edu 37 2 219894817 219894817 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 219894817 219894817 C T SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known silent c.1275 p.S425 0.000 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 105 0 0 61 29 32.2222 GLB1L 0 genome.wustl.edu 37 2 220104675 220104675 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 220104675 220104675 G A SNP GLB1L ENST00000295759 human ensembl 74_37 -1 known missense c.688 p.R230W 0.986 pfam_Glycoside_Hdrlase_35,superfamily_Glycoside_hydrolase_SF pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L HGNC ENSG00000163521 206 1 0.483092 151 70 31.6742 DNAJB2 0 genome.wustl.edu 37 2 220147591 220147591 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 220147591 220147591 C T SNP DNAJB2 ENST00000336576 human ensembl 74_37 +1 known missense c.385 p.R129W 0.345 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB2 HGNC ENSG00000135924 115 0 0 59 27 31.3953 OBSL1 0 genome.wustl.edu 37 2 220419341 220419341 + Silent SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 220419341 220419341 T C SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known silent c.4731 p.V1577 0.996 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 33 0 0 25 12 32.4324 OBSL1 0 genome.wustl.edu 37 2 220431817 220431817 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 220431817 220431817 C A SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.1869 p.E623D 0.977 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 36 0 0 17 10 37.037 OBSL1 0 genome.wustl.edu 37 2 220433041 220433041 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 220433041 220433041 G A SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.1018 p.R340C 1.000 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 15 0 0 8 6 42.8571 COL4A3 0 genome.wustl.edu 37 2 228155478 228155478 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 228155478 228155478 G A SNP COL4A3 ENST00000396578 human ensembl 74_37 +1 known missense c.3086 p.R1029K 0.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 69 0 0 26 9 25.7143 SPHKAP 0 genome.wustl.edu 37 2 228883795 228883795 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 228883795 228883795 G T SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.1775 p.A592E 0.977 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 89 0 0 70 32 31.3725 SP100 0 genome.wustl.edu 37 2 231307780 231307780 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 231307780 231307780 G A SNP SP100 ENST00000340126 human ensembl 74_37 +1 known missense c.236 p.R79H 0.921 pfam_Sp100 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 109 0 0 42 30 41.6667 NCL 0 genome.wustl.edu 37 2 232326264 232326264 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 232326264 232326264 G A SNP NCL ENST00000322723 human ensembl 74_37 -1 known silent c.600 p.D200 0.000 NULL pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors NCL HGNC ENSG00000115053 94 0 0 66 33 33.3333 ALPP 0 genome.wustl.edu 37 2 233246288 233246288 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 233246288 233246288 G A SNP ALPP ENST00000392027 human ensembl 74_37 +1 known missense c.1391 p.R464H 0.988 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPP HGNC ENSG00000163283 28 0 0 27 18 40 SAG 0 genome.wustl.edu 37 2 234247347 234247347 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 234247347 234247347 G A SNP SAG ENST00000409110 human ensembl 74_37 +1 known missense c.970 p.V324I 0.908 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 149 0 0 69 39 36.1111 USP40 0 genome.wustl.edu 37 2 234398032 234398032 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 234398032 234398032 C T SNP USP40 ENST00000450966 human ensembl 74_37 -1 known missense c.3143 p.R1048Q 0.752 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP40 HGNC ENSG00000085982 14 0 0 8 9 52.9412 USP40 0 genome.wustl.edu 37 2 234442369 234442369 + Silent SNP A A T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 234442369 234442369 A T SNP USP40 ENST00000450966 human ensembl 74_37 -1 known silent c.1260 p.R420 0.071 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP40 HGNC ENSG00000085982 30 0 0 15 10 40 LOC100286922 0 genome.wustl.edu 37 2 234663740 234663740 + RNA SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 234663740 234663740 G A SNP LOC100286922 ENST00000389816 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors AC114812.5 Clone_based_vega_gene ENSG00000178836 126 0 0 129 47 26.7045 MSL3P1 0 genome.wustl.edu 37 2 234775895 234775895 + RNA SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 234775895 234775895 T C SNP MSL3P1 ENST00000438684 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MSL3P1 HGNC ENSG00000224287 25 0 0 17 8 32 GBX2 0 genome.wustl.edu 37 2 237074648 237074648 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 237074648 237074648 C T SNP GBX2 ENST00000306318 human ensembl 74_37 -1 known missense c.956 p.R319Q 0.999 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors GBX2 HGNC ENSG00000168505 143 0 0 122 11 8.27068 COL6A3 0 genome.wustl.edu 37 2 238277429 238277429 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 238277429 238277429 G A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known silent c.4677 p.F1559 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 162 0 0 77 60 43.7956 ILKAP 0 genome.wustl.edu 37 2 239102960 239102960 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 239102960 239102960 G T SNP ILKAP ENST00000254654 human ensembl 74_37 -1 known missense c.134 p.P45H 1.000 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors ILKAP HGNC ENSG00000132323 55 0 0 27 20 42.5532 GPC1 0 genome.wustl.edu 37 2 241404611 241404611 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 241404611 241404611 G A SNP GPC1 ENST00000264039 human ensembl 74_37 +1 known missense c.1252 p.G418R 0.541 pfam_Glypican pfam_Glypican - no_errors GPC1 HGNC ENSG00000063660 23 0 0 20 7 25.9259 FARP2 0 genome.wustl.edu 37 2 242432735 242432735 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 242432735 242432735 C T SNP FARP2 ENST00000264042 human ensembl 74_37 +1 known silent c.2923 p.L975 0.986 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,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 FARP2 HGNC ENSG00000006607 51 0 0 43 26 37.6812 ITSN2 0 genome.wustl.edu 37 2 24426495 24426495 + Nonstop_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 24426495 24426495 C A SNP ITSN2 ENST00000355123 human ensembl 74_37 -1 known nonstop c.5094 p.*1698Y 0.083 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 19 0 0 13 9 40.9091 POMC 0 genome.wustl.edu 37 2 25384074 25384074 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 25384074 25384074 C T SNP POMC ENST00000264708 human ensembl 74_37 -1 known missense c.680 p.R227H 1.000 prints_Mcortin_ACTH pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH - no_errors POMC HGNC ENSG00000115138 47 0 0 42 16 27.5862 HADHB 0 genome.wustl.edu 37 2 26499963 26499963 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 26499963 26499963 C T SNP HADHB ENST00000317799 human ensembl 74_37 +1 known missense c.377 p.S126F 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 61 0 0 35 23 39.6552 EMILIN1 0 genome.wustl.edu 37 2 27306197 27306197 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 27306197 27306197 C T SNP EMILIN1 ENST00000380320 human ensembl 74_37 +1 known silent c.1758 p.G586 0.000 NULL pfam_EMI_domain,pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN1 HGNC ENSG00000138080 79 0 0 67 30 30.9278 CAD 0 genome.wustl.edu 37 2 27461393 27461393 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 27461393 27461393 G A SNP CAD ENST00000264705 human ensembl 74_37 +1 known missense c.4955 p.R1652H 0.973 NULL pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 141 0 0 118 71 37.5661 YPEL5 0 genome.wustl.edu 37 2 30379581 30379581 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 30379581 30379581 A G SNP YPEL5 ENST00000261353 human ensembl 74_37 +1 known missense c.64 p.T22A 1.000 pfam_Yippee/Mis18 pfam_Yippee/Mis18 - no_errors YPEL5 HGNC ENSG00000119801 132 0 0 100 6 5.66038 RNU6-1117P 0 genome.wustl.edu 37 2 35696774 35696774 + RNA SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 35696774 35696774 T C SNP RNU6-1117P ENST00000384525 human ensembl 74_37 +1 known rna NULL NULL 0.034 - - - no_errors RNU6-1117P HGNC ENSG00000207255 21 0 0 13 3 18.75 SOS1 0 genome.wustl.edu 37 2 39213084 39213084 + Nonsense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 39213084 39213084 G A SNP SOS1 ENST00000402219 human ensembl 74_37 -1 known nonsense c.3883 p.R1295* 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC ENSG00000115904 234 0 0 123 78 38.806 LRPPRC 0 genome.wustl.edu 37 2 44139614 44139614 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 44139614 44139614 T C SNP LRPPRC ENST00000260665 human ensembl 74_37 -1 known missense c.3232 p.M1078V 0.015 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 78 0 0 39 4 9.30233 PREPL 0 genome.wustl.edu 37 2 44569598 44569598 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 44569598 44569598 T C SNP PREPL ENST00000260648 human ensembl 74_37 -1 known missense c.710 p.D237G 0.998 pfam_Pept_S9A_N pfam_Peptidase_S9,pfam_Pept_S9A_N,prints_Peptidase_S9A - no_errors PREPL HGNC ENSG00000138078 120 0 0 55 29 34.5238 NRXN1 0 genome.wustl.edu 37 2 51254743 51254743 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 51254743 51254743 G A SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known silent c.669 p.G223 1.000 smart_EG-like_dom,pfscan_EG-like_dom 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 16 0 0 17 4 19.0476 NRXN1 0 genome.wustl.edu 37 2 51254815 51254815 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 51254815 51254815 G A SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known silent c.597 p.S199 0.979 superfamily_ConA-like_lec_gl_sf,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 NRXN1 HGNC ENSG00000179915 18 0 0 15 12 44.4444 BCL11A 0 genome.wustl.edu 37 2 60689540 60689540 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 60689540 60689540 G A SNP BCL11A ENST00000335712 human ensembl 74_37 -1 known silent c.507 p.S169 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11A HGNC ENSG00000119866 83 0 0 42 19 31.1475 CNRIP1 0 genome.wustl.edu 37 2 68521133 68521133 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 68521133 68521133 G A SNP CNRIP1 ENST00000263655 human ensembl 74_37 -1 known missense c.356 p.T119I 1.000 NULL NULL - no_errors CNRIP1 HGNC ENSG00000119865 60 0 0 54 11 16.9231 DQX1 0 genome.wustl.edu 37 2 74750442 74750442 + Nonsense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 74750442 74750442 G A SNP DQX1 ENST00000393951 human ensembl 74_37 -1 known nonsense c.1039 p.R347* 0.995 superfamily_P-loop_NTPase 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 228 0 0 153 46 23.1156 LOXL3 0 genome.wustl.edu 37 2 74762732 74762732 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 74762732 74762732 C T SNP LOXL3 ENST00000264094 human ensembl 74_37 -1 known missense c.1399 p.A467T 1.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL3 HGNC ENSG00000115318 302 0 0 227 33 12.6923 LRRTM1 0 genome.wustl.edu 37 2 80529622 80529622 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 80529622 80529622 G A SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known silent c.1323 p.I441 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 89 0 0 54 40 42.5532 ADRA2B 0 genome.wustl.edu 37 2 96781701 96781701 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 96781701 96781701 G A SNP ADRA2B ENST00000409345 human ensembl 74_37 -1 known missense c.188 p.T63M 1.000 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_ADRA2B_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA2B HGNC ENSG00000222040 49 0 0 40 5 11.1111 ZAP70 0 genome.wustl.edu 37 2 98351712 98351712 + Splice_Site SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 98351712 98351712 G T SNP ZAP70 ENST00000264972 human ensembl 74_37 +1 known splice_site c.1083-1 e8-1 1.000 - - - no_errors ZAP70 HGNC ENSG00000115085 65 0 0 71 32 31.068 TMEM131 0 genome.wustl.edu 37 2 98392356 98392356 + Missense_Mutation SNP A A T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 98392356 98392356 A T SNP TMEM131 ENST00000186436 human ensembl 74_37 -1 known missense c.4270 p.S1424T 1.000 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 45 0 0 27 10 27.027 DTD1 0 genome.wustl.edu 37 20 18724832 18724832 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 18724832 18724832 G A SNP DTD1 ENST00000377452 human ensembl 74_37 +1 known missense c.566 p.R189Q 0.904 NULL pfam_DTyrtRNA_deacyls,superfamily_DTD-like_dom,tigrfam_DTyrtRNA_deacyls - no_errors DTD1 HGNC ENSG00000125821 68 0 0 28 8 22.2222 CST7 0 genome.wustl.edu 37 20 24930099 24930099 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 24930099 24930099 C T SNP CST7 ENST00000376835 human ensembl 74_37 +1 known silent c.24 p.H8 0.000 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST7 HGNC ENSG00000077984 91 0 0 100 38 27.5362 XKR7 0 genome.wustl.edu 37 20 30584330 30584330 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 30584330 30584330 C T SNP XKR7 ENST00000562532 human ensembl 74_37 +1 known silent c.810 p.L270 0.990 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR7 HGNC ENSG00000260903 26 0 0 31 7 18.4211 BPIFB2 0 genome.wustl.edu 37 20 31604906 31604906 + Missense_Mutation SNP T T G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 31604906 31604906 T G SNP BPIFB2 ENST00000170150 human ensembl 74_37 +1 known missense c.575 p.I192S 0.963 superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB2 HGNC ENSG00000078898 144 0 0 92 37 28.6822 BPIFB2 0 genome.wustl.edu 37 20 31609117 31609117 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 31609117 31609117 G A SNP BPIFB2 ENST00000170150 human ensembl 74_37 +1 known missense c.1225 p.V409I 0.218 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB2 HGNC ENSG00000078898 28 0 0 28 13 31.7073 C20orf194 0 genome.wustl.edu 37 20 3276350 3276350 + RNA SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 3276350 3276350 G A SNP C20orf194 ENST00000498079 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C20orf194 HGNC ENSG00000088854 29 0 0 15 4 21.0526 NCOA6 0 genome.wustl.edu 37 20 33330514 33330514 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 33330514 33330514 C T SNP NCOA6 ENST00000359003 human ensembl 74_37 -1 known silent c.3546 p.Q1182 1.000 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 94 0 0 52 38 42.2222 TGM2 0 genome.wustl.edu 37 20 36766704 36766704 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 36766704 36766704 G A SNP TGM2 ENST00000361475 human ensembl 74_37 -1 known missense c.1426 p.R476W 0.887 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 TGM2 HGNC ENSG00000198959 71 0 0 35 20 36.3636 RALGAPB 0 genome.wustl.edu 37 20 37121578 37121578 + Silent SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 37121578 37121578 A G SNP RALGAPB ENST00000262879 human ensembl 74_37 +1 known silent c.192 p.K64 1.000 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPB HGNC ENSG00000170471 171 0 0 83 25 23.1481 MAVS 0 genome.wustl.edu 37 20 3845148 3845148 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 3845148 3845148 G A SNP MAVS ENST00000428216 human ensembl 74_37 +1 known missense c.871 p.A291T 0.000 NULL NULL - no_errors MAVS HGNC ENSG00000088888 80 0 0 79 31 28.1818 ACOT8 0 genome.wustl.edu 37 20 44472189 44472189 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 44472189 44472189 T C SNP ACOT8 ENST00000217455 human ensembl 74_37 -1 known missense c.818 p.Y273C 1.000 pfam_Acyl_CoA_thio_II_dom,tigrfam_Acyl_CoA_thio pfam_Acyl_CoA_thio_II_dom,tigrfam_Acyl_CoA_thio - no_errors ACOT8 HGNC ENSG00000101473 35 0 0 20 13 39.3939 ACOT8 0 genome.wustl.edu 37 20 44472920 44472920 + Nonsense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 44472920 44472920 G A SNP ACOT8 ENST00000217455 human ensembl 74_37 -1 known nonsense c.628 p.R210* 1.000 pfam_Acyl_CoA_thio_II_dom,tigrfam_Acyl_CoA_thio pfam_Acyl_CoA_thio_II_dom,tigrfam_Acyl_CoA_thio - no_errors ACOT8 HGNC ENSG00000101473 65 0 0 38 20 34.4828 ZMYND8 0 genome.wustl.edu 37 20 45878153 45878153 + Missense_Mutation SNP T T A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 45878153 45878153 T A SNP ZMYND8 ENST00000536340 human ensembl 74_37 -1 known missense c.1673 p.E558V 1.000 pfam_DUF3544 pfam_DUF3544,pfam_Bromodomain,pfam_PWWP_dom,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND8 HGNC ENSG00000101040 90 0 0 37 28 43.0769 ARFGEF2 0 genome.wustl.edu 37 20 47567921 47567921 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 47567921 47567921 G A SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known missense c.338 p.R113Q 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 85 0 0 31 12 27.907 MOCS3 0 genome.wustl.edu 37 20 49575760 49575760 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 49575760 49575760 G A SNP MOCS3 ENST00000244051 human ensembl 74_37 +1 known silent c.381 p.L127 0.999 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB 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 135 0 0 96 61 38.8535 KCNG1 0 genome.wustl.edu 37 20 49620977 49620977 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 49620977 49620977 G A SNP KCNG1 ENST00000371571 human ensembl 74_37 -1 known silent c.1141 p.L381 1.000 pfam_Ion_trans_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv 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_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 30 0 0 14 15 51.7241 KCNG1 0 genome.wustl.edu 37 20 49626813 49626813 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 49626813 49626813 G A SNP KCNG1 ENST00000371571 human ensembl 74_37 -1 known silent c.63 p.D21 1.000 NULL 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_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 42 0 0 34 22 39.2857 MC3R 0 genome.wustl.edu 37 20 54824427 54824427 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 54824427 54824427 C T SNP MC3R ENST00000243911 human ensembl 74_37 +1 known silent c.528 p.G176 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_Melcrt_ACTH_rcpt,prints_Mcort_3_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC3R HGNC ENSG00000124089 132 0 0 104 32 23.5294 FAM209A 0 genome.wustl.edu 37 20 55100860 55100860 + Nonsense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 55100860 55100860 G T SNP FAM209A ENST00000371328 human ensembl 74_37 +1 known nonsense c.250 p.E84* 0.983 NULL NULL - no_errors FAM209A HGNC ENSG00000124103 247 0 0 129 49 27.5281 PPP1R3D 0 genome.wustl.edu 37 20 58514195 58514195 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 58514195 58514195 G A SNP PPP1R3D ENST00000370996 human ensembl 74_37 -1 known silent c.792 p.A264 0.029 pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 - no_errors PPP1R3D HGNC ENSG00000132825 44 0 0 29 14 32.5581 COL9A3 0 genome.wustl.edu 37 20 61458159 61458159 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 61458159 61458159 C T SNP COL9A3 ENST00000343916 human ensembl 74_37 +1 known missense c.779 p.A260V 0.417 NULL pfam_Collagen - no_errors COL9A3 HGNC ENSG00000092758 43 0 0 31 15 32.6087 KCNQ2 0 genome.wustl.edu 37 20 62046407 62046407 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 62046407 62046407 C T SNP KCNQ2 ENST00000354587 human ensembl 74_37 -1 known silent c.1290 p.P430 0.367 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 73 0 0 46 19 29.2308 ZBTB46 0 genome.wustl.edu 37 20 62421442 62421442 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 62421442 62421442 G A SNP ZBTB46 ENST00000245663 human ensembl 74_37 -1 known silent c.669 p.Y223 0.107 NULL pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ENSG00000130584 54 0 0 25 27 51.9231 UCKL1 0 genome.wustl.edu 37 20 62571762 62571762 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 62571762 62571762 G A SNP UCKL1 ENST00000354216 human ensembl 74_37 -1 known missense c.1379 p.A460V 0.997 NULL pfam_PRK/URK,pfam_CPT,superfamily_P-loop_NTPase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCKL1 HGNC ENSG00000198276 51 0 0 30 16 34.7826 ZNF512B 0 genome.wustl.edu 37 20 62597958 62597958 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 62597958 62597958 C A SNP ZNF512B ENST00000217130 human ensembl 74_37 -1 known missense c.570 p.K190N 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512B HGNC ENSG00000196700 146 0 0 98 54 35.5263 ANGPT4 0 genome.wustl.edu 37 20 860413 860413 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 860413 860413 G A SNP ANGPT4 ENST00000381922 human ensembl 74_37 -1 known missense c.1030 p.R344W 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,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT4 HGNC ENSG00000101280 75 0 0 44 28 38.8889 ADAMTS1 0 genome.wustl.edu 37 21 28212612 28212612 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 21 28212612 28212612 C T SNP ADAMTS1 ENST00000284984 human ensembl 74_37 -1 known missense c.1648 p.D550N 1.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC ENSG00000154734 104 0 0 38 23 37.7049 ADAMTS5 0 genome.wustl.edu 37 21 28306907 28306907 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 21 28306907 28306907 G A SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known missense c.1567 p.R523C 0.983 smart_ADAM_Cys-rich pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 71 0 0 42 21 33.3333 KRTAP27-1 0 genome.wustl.edu 37 21 31709589 31709589 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 21 31709589 31709589 G T SNP KRTAP27-1 ENST00000382835 human ensembl 74_37 -1 known missense c.398 p.P133H 0.611 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP27-1 HGNC ENSG00000206107 259 0 0 153 67 30.4545 SLC5A3 0 genome.wustl.edu 37 21 35468425 35468425 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 21 35468425 35468425 A G SNP SLC5A3 ENST00000381151 human ensembl 74_37 +1 known missense c.928 p.M310V 1.000 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 SLC5A3 HGNC ENSG00000198743 149 0 0 77 49 38.8889 TTC3 0 genome.wustl.edu 37 21 38525269 38525269 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 21 38525269 38525269 A G SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known missense c.2432 p.Q811R 0.045 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 58 0 0 25 3 10.7143 KCNJ6 0 genome.wustl.edu 37 21 39087042 39087042 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 21 39087042 39087042 C T SNP KCNJ6 ENST00000288309 human ensembl 74_37 -1 known missense c.418 p.V140I 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2 - no_errors KCNJ6 HGNC ENSG00000157542 130 0 0 74 34 31.4815 DSCAM 0 genome.wustl.edu 37 21 41450854 41450854 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 21 41450854 41450854 G A SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.4471 p.R1491C 0.528 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_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 61 0 0 29 20 40.8163 ABCG1 0 genome.wustl.edu 37 21 43716452 43716452 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 21 43716452 43716452 C T SNP ABCG1 ENST00000398437 human ensembl 74_37 +1 known missense c.2425 p.R809C 1.000 tigrfam_Pigment_permease pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease - no_errors ABCG1 HGNC ENSG00000160179 83 0 0 45 15 25 UBASH3A 0 genome.wustl.edu 37 21 43836627 43836627 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 21 43836627 43836627 G A SNP UBASH3A ENST00000319294 human ensembl 74_37 +1 known silent c.744 p.T248 0.578 NULL pfam_His_Pase_superF_clade-1,pfam_SH3_domain,superfamily_SH3_domain,superfamily_UBA-like,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBASH3A HGNC ENSG00000160185 56 0 0 51 24 32 TRAPPC10 0 genome.wustl.edu 37 21 45475599 45475599 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 21 45475599 45475599 C A SNP TRAPPC10 ENST00000291574 human ensembl 74_37 +1 known missense c.503 p.P168H 1.000 NULL NULL - no_errors TRAPPC10 HGNC ENSG00000160218 165 0 0 83 36 30.2521 DNMT3L 0 genome.wustl.edu 37 21 45679387 45679387 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 21 45679387 45679387 G T SNP DNMT3L ENST00000270172 human ensembl 74_37 -1 known missense c.277 p.Q93K 1.000 superfamily_Znf_FYVE_PHD superfamily_Znf_FYVE_PHD - no_errors DNMT3L HGNC ENSG00000142182 134 0 0 59 25 29.7619 KRTAP10-4 0 genome.wustl.edu 37 21 45994173 45994173 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 21 45994173 45994173 A G SNP KRTAP10-4 ENST00000400374 human ensembl 74_37 +1 known missense c.538 p.S180G 0.534 NULL NULL - no_errors KRTAP10-4 HGNC ENSG00000215454 66 0 0 55 35 38.8889 KRTAP10-6 0 genome.wustl.edu 37 21 46011828 46011828 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 21 46011828 46011828 T C SNP KRTAP10-6 ENST00000400368 human ensembl 74_37 -1 known missense c.538 p.S180G 0.919 NULL NULL - no_errors KRTAP10-6 HGNC ENSG00000188155 179 0 0 243 26 9.66543 COL18A1 0 genome.wustl.edu 37 21 46932115 46932115 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 21 46932115 46932115 G A SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known missense c.5068 p.V1690M 1.000 pfam_Collagenase_NC10/endostatin,superfamily_C-type_lectin_fold 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 18 0 0 22 11 33.3333 FTCD 0 genome.wustl.edu 37 21 47570343 47570343 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 21 47570343 47570343 C A SNP FTCD ENST00000359679 human ensembl 74_37 -1 known missense c.733 p.A245S 0.054 pfam_Formiminotransferase_C,superfamily_FormiminoTrfase_N/C_subdom,tigrfam_Formiminotransferase_cat pfam_Formiminotransferase_N,pfam_Formiminotransferase_C,pfam_Cyclodeamin/CycHdrlase,superfamily_FormiminoTrfase_N/C_subdom,superfamily_Cyclodeamin/CycHdrlase,tigrfam_Formiminotransferase_cat - no_errors FTCD HGNC ENSG00000160282 154 0 0 77 27 25.9615 S100B 0 genome.wustl.edu 37 21 48022217 48022217 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 21 48022217 48022217 T C SNP S100B ENST00000291700 human ensembl 74_37 -1 known missense c.112 p.N38D 0.998 pfam_S100_Ca-bd_sub pfam_S100_Ca-bd_sub,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors S100B HGNC ENSG00000160307 66 0 0 33 19 36.5385 GAB4 0 genome.wustl.edu 37 22 17444639 17444639 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 17444639 17444639 C T SNP GAB4 ENST00000400588 human ensembl 74_37 -1 known silent c.1557 p.A519 0.998 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB4 HGNC ENSG00000215568 58 0 0 34 15 30.6122 CECR6 0 genome.wustl.edu 37 22 17601106 17601106 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 17601106 17601106 C T SNP CECR6 ENST00000331437 human ensembl 74_37 -1 known silent c.912 p.A304 0.002 NULL NULL - no_errors CECR6 HGNC ENSG00000183307 28 0 0 22 15 40.5405 BCL2L13 0 genome.wustl.edu 37 22 18210180 18210180 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 18210180 18210180 C T SNP BCL2L13 ENST00000317582 human ensembl 74_37 +1 known silent c.1338 p.A446 0.017 NULL pfam_Blc2_fam,pfscan_Bcl2-like - no_errors BCL2L13 HGNC ENSG00000099968 156 0 0 76 62 44.9275 CDC45 0 genome.wustl.edu 37 22 19504377 19504377 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 19504377 19504377 A G SNP CDC45 ENST00000437685 human ensembl 74_37 +1 known missense c.1693 p.T565A 1.000 pfam_CDC45 pfam_CDC45 - no_errors CDC45 HGNC ENSG00000093009 84 0 0 39 11 22 ZDHHC8 0 genome.wustl.edu 37 22 20128528 20128528 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 20128528 20128528 G A SNP ZDHHC8 ENST00000405930 human ensembl 74_37 +1 known missense c.887 p.R296H 0.989 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC8 HGNC ENSG00000099904 112 0 0 71 42 37.1681 ZDHHC8 0 genome.wustl.edu 37 22 20130391 20130391 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 20130391 20130391 C A SNP ZDHHC8 ENST00000405930 human ensembl 74_37 +1 known missense c.1238 p.A413D 0.987 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC8 HGNC ENSG00000099904 33 0 0 32 5 13.5135 ZNF74 0 genome.wustl.edu 37 22 20760329 20760329 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 20760329 20760329 G A SNP ZNF74 ENST00000356671 human ensembl 74_37 +1 known missense c.1006 p.A336T 0.021 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 ZNF74 HGNC ENSG00000185252 65 0 0 73 42 36.5217 PPIL2 0 genome.wustl.edu 37 22 22042393 22042393 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 22042393 22042393 C T SNP PPIL2 ENST00000412327 human ensembl 74_37 +1 known missense c.1019 p.T340M 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,pfam_Rtf2_RING-finger,superfamily_Cyclophilin-like_PPIase_dom,smart_Ubox_domain,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL2 HGNC ENSG00000100023 279 0 0 134 70 34.3137 MAPK1 0 genome.wustl.edu 37 22 22162026 22162026 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 22162026 22162026 G A SNP MAPK1 ENST00000215832 human ensembl 74_37 -1 known missense c.229 p.R77C 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,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4 - no_errors MAPK1 HGNC ENSG00000100030 94 0 0 60 18 23.0769 ZNF280A 0 genome.wustl.edu 37 22 22869780 22869780 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 22869780 22869780 C T SNP ZNF280A ENST00000302097 human ensembl 74_37 -1 known missense c.175 p.V59I 0.021 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280A HGNC ENSG00000169548 98 0 0 62 25 28.7356 CABIN1 0 genome.wustl.edu 37 22 24463060 24463060 + Silent SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 24463060 24463060 G T SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known silent c.2160 p.G720 0.487 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 71 0 0 48 26 35.1351 SGSM1 0 genome.wustl.edu 37 22 25251568 25251568 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 25251568 25251568 C T SNP SGSM1 ENST00000400359 human ensembl 74_37 +1 known missense c.722 p.A241V 1.000 NULL 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 47 0 0 25 14 35.8974 CRYBB3 0 genome.wustl.edu 37 22 25601330 25601330 + Splice_Site SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 25601330 25601330 G A SNP CRYBB3 ENST00000215855 human ensembl 74_37 +1 known splice_site c.470+1 e4+1 1.000 - - - no_errors CRYBB3 HGNC ENSG00000100053 29 0 0 16 14 46.6667 MYO18B 0 genome.wustl.edu 37 22 26176142 26176142 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 26176142 26176142 C T SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.2188 p.R730C 0.989 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom 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 20 0 0 9 9 50 TPST2 0 genome.wustl.edu 37 22 26937081 26937081 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 26937081 26937081 C T SNP TPST2 ENST00000338754 human ensembl 74_37 -1 known silent c.516 p.L172 0.068 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors TPST2 HGNC ENSG00000128294 141 0 0 102 36 26.087 EMID1 0 genome.wustl.edu 37 22 29627111 29627111 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 29627111 29627111 G A SNP EMID1 ENST00000334018 human ensembl 74_37 +1 known missense c.568 p.G190R 0.815 NULL pfam_Collagen,pfam_EMI_domain,pfscan_EMI_domain - no_errors EMID1 HGNC ENSG00000186998 102 0 0 55 29 34.5238 EWSR1 0 genome.wustl.edu 37 22 29670263 29670263 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 29670263 29670263 C T SNP EWSR1 ENST00000414183 human ensembl 74_37 +1 known missense c.236 p.T79I 1.000 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors EWSR1 HGNC ENSG00000182944 112 0 0 71 15 17.4419 ASCC2 0 genome.wustl.edu 37 22 30221196 30221196 + Nonsense_Mutation SNP A A C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 30221196 30221196 A C SNP ASCC2 ENST00000307790 human ensembl 74_37 -1 known nonsense c.291 p.Y97* 1.000 NULL pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE - no_errors ASCC2 HGNC ENSG00000100325 123 0 0 71 47 39.8305 MTMR3 0 genome.wustl.edu 37 22 30416523 30416523 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 30416523 30416523 G A SNP MTMR3 ENST00000401950 human ensembl 74_37 +1 known missense c.2875 p.A959T 0.076 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 108 0 0 94 32 25.3968 GATSL3 0 genome.wustl.edu 37 22 30681648 30681648 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 30681648 30681648 G A SNP GATSL3 ENST00000407689 human ensembl 74_37 -1 known silent c.951 p.I317 0.013 NULL NULL - no_errors GATSL3 HGNC ENSG00000239282 8 0 0 11 4 26.6667 MTFP1 0 genome.wustl.edu 37 22 30823345 30823345 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 30823345 30823345 C T SNP MTFP1 ENST00000266263 human ensembl 74_37 +1 known missense c.383 p.A128V 0.912 pfam_Mitochondrial_18_kDa_protein_ pfam_Mitochondrial_18_kDa_protein_ - no_errors MTFP1 HGNC ENSG00000242114 231 0 0 121 71 36.9792 TCN2 0 genome.wustl.edu 37 22 31019016 31019016 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 31019016 31019016 G A SNP TCN2 ENST00000215838 human ensembl 74_37 +1 known missense c.1168 p.G390R 0.108 NULL pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors TCN2 HGNC ENSG00000185339 124 0 0 56 30 34.8837 CSF2RB 0 genome.wustl.edu 37 22 37332682 37332682 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 37332682 37332682 C T SNP CSF2RB ENST00000262825 human ensembl 74_37 +1 known missense c.1574 p.P525L 0.001 pirsf_IL3_rcpt_beta pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC ENSG00000100368 52 0 0 32 14 30.4348 SSTR3 0 genome.wustl.edu 37 22 37603572 37603572 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 37603572 37603572 C T SNP SSTR3 ENST00000328544 human ensembl 74_37 -1 known missense c.271 p.E91K 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Neuropept_B/W_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_3,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Somatstn_rcpt_5,prints_Neuropept_B/W_rcpt - no_errors SSTR3 HGNC ENSG00000183473 79 0 0 68 51 42.8571 CARD10 0 genome.wustl.edu 37 22 37912113 37912113 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 37912113 37912113 C T SNP CARD10 ENST00000251973 human ensembl 74_37 -1 known missense c.566 p.R189Q 1.000 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD10 HGNC ENSG00000100065 16 0 0 13 4 23.5294 TRIOBP 0 genome.wustl.edu 37 22 38120532 38120532 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 38120532 38120532 G A SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known missense c.1969 p.D657N 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 116 0 0 125 66 34.555 GALR3 0 genome.wustl.edu 37 22 38220915 38220915 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 38220915 38220915 G A SNP GALR3 ENST00000249041 human ensembl 74_37 +1 known missense c.545 p.R182H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Galanin_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Galanin_rcpt,prints_GPCR_Rhodpsn,prints_Galnin_3_rcpt - no_errors GALR3 HGNC ENSG00000128310 14 0 0 14 6 30 SUN2 0 genome.wustl.edu 37 22 39146931 39146931 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 39146931 39146931 C T SNP SUN2 ENST00000216064 human ensembl 74_37 -1 known silent c.396 p.S132 0.060 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN2 HGNC ENSG00000100242 61 0 0 38 17 30.9091 SUN2 0 genome.wustl.edu 37 22 39148568 39148568 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 39148568 39148568 G A SNP SUN2 ENST00000216064 human ensembl 74_37 -1 known silent c.66 p.S22 0.837 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN2 HGNC ENSG00000100242 46 0 0 42 22 34.375 RRP7A 0 genome.wustl.edu 37 22 42914119 42914119 + Silent SNP A A C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 42914119 42914119 A C SNP RRP7A ENST00000323013 human ensembl 74_37 -1 known silent c.108 p.A36 0.003 NULL NULL - no_errors RRP7A HGNC ENSG00000189306 52 0 0 26 10 27.7778 EFCAB6 0 genome.wustl.edu 37 22 44028099 44028099 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 44028099 44028099 C T SNP EFCAB6 ENST00000262726 human ensembl 74_37 -1 known silent c.2118 p.P706 0.000 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB6 HGNC ENSG00000186976 181 0 0 81 33 28.9474 TBC1D22A 0 genome.wustl.edu 37 22 47370253 47370253 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 47370253 47370253 C T SNP TBC1D22A ENST00000337137 human ensembl 74_37 +1 known silent c.1083 p.A361 0.995 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22A HGNC ENSG00000054611 20 0 0 17 12 41.3793 ZBED4 0 genome.wustl.edu 37 22 50278666 50278666 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 50278666 50278666 G T SNP ZBED4 ENST00000216268 human ensembl 74_37 +1 known missense c.1356 p.K452N 1.000 NULL pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED4 HGNC ENSG00000100426 145 0 0 77 53 40.7692 TTLL8 0 genome.wustl.edu 37 22 50485624 50485624 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 50485624 50485624 G A SNP TTLL8 ENST00000266182 human ensembl 74_37 -1 known silent c.366 p.Y122 0.936 NULL pfam_TTL/TTLL_fam - no_errors TTLL8 HGNC ENSG00000138892 44 0 0 34 21 38.1818 MOV10L1 0 genome.wustl.edu 37 22 50591531 50591531 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 50591531 50591531 C T SNP MOV10L1 ENST00000262794 human ensembl 74_37 +1 known missense c.2950 p.R984W 0.079 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold - no_errors MOV10L1 HGNC ENSG00000073146 147 0 0 92 51 35.6643 KLHDC7B 0 genome.wustl.edu 37 22 50988085 50988085 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 50988085 50988085 G A SNP KLHDC7B ENST00000395676 human ensembl 74_37 +1 known missense c.1490 p.R497H 1.000 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7B HGNC ENSG00000130487 114 0 0 92 41 30.8271 ATP2B2 0 genome.wustl.edu 37 3 10370396 10370396 + RNA SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 10370396 10370396 C T SNP ATP2B2 ENST00000467702 human ensembl 74_37 -1 known rna NULL NULL 0.116 - - - no_errors ATP2B2 HGNC ENSG00000157087 13 0 0 15 3 16.6667 DZIP3 0 genome.wustl.edu 37 3 108409725 108409725 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 108409725 108409725 G A SNP DZIP3 ENST00000361582 human ensembl 74_37 +1 known missense c.3608 p.R1203Q 0.425 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC ENSG00000198919 75 0 0 54 27 33.3333 BOC 0 genome.wustl.edu 37 3 112998721 112998721 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 112998721 112998721 G A SNP BOC ENST00000273395 human ensembl 74_37 +1 known missense c.2074 p.E692K 0.995 pfam_Fibronectin_type3,superfamily_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 BOC HGNC ENSG00000144857 148 0 0 99 33 25 KIAA2018 0 genome.wustl.edu 37 3 113376125 113376125 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 113376125 113376125 C T SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known silent c.4404 p.Q1468 0.996 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 46 0 0 39 4 9.30233 CD80 0 genome.wustl.edu 37 3 119276481 119276481 + Missense_Mutation SNP C C G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 119276481 119276481 C G SNP CD80 ENST00000264246 human ensembl 74_37 -1 known missense c.95 p.C32S 0.113 pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD80 HGNC ENSG00000121594 38 0 0 25 12 32.4324 PARP9 0 genome.wustl.edu 37 3 122247435 122247435 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 122247435 122247435 G A SNP PARP9 ENST00000360356 human ensembl 74_37 -1 known missense c.2341 p.P781S 0.696 pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP9 HGNC ENSG00000138496 109 0 0 68 33 32.6733 KALRN 0 genome.wustl.edu 37 3 124165071 124165071 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 124165071 124165071 G A SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.3371 p.R1124Q 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_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 85 0 0 63 24 27.5862 PPARG 0 genome.wustl.edu 37 3 12422929 12422929 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 12422929 12422929 G A SNP PPARG ENST00000287820 human ensembl 74_37 +1 known missense c.419 p.R140H 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,pfam_PPARgamma_N,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_1Cnucl_rcpt_G,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors PPARG HGNC ENSG00000132170 45 0 0 16 9 36 KALRN 0 genome.wustl.edu 37 3 124281775 124281775 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 124281775 124281775 C T SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.5015 p.T1672M 1.000 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 41 0 0 27 12 30.7692 HEG1 0 genome.wustl.edu 37 3 124748138 124748138 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 124748138 124748138 C T SNP HEG1 ENST00000311127 human ensembl 74_37 -1 known missense c.511 p.G171R 0.001 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 41 0 0 23 5 17.8571 HEG1 0 genome.wustl.edu 37 3 124748159 124748159 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 124748159 124748159 C T SNP HEG1 ENST00000311127 human ensembl 74_37 -1 known missense c.490 p.A164T 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 51 0 0 26 4 13.3333 C3orf22 0 genome.wustl.edu 37 3 126268880 126268880 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 126268880 126268880 G A SNP C3orf22 ENST00000318225 human ensembl 74_37 -1 known missense c.257 p.P86L 0.000 NULL NULL - no_errors C3orf22 HGNC ENSG00000180697 90 0 0 51 20 28.169 TPRA1 0 genome.wustl.edu 37 3 127294606 127294606 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 127294606 127294606 C T SNP TPRA1 ENST00000355552 human ensembl 74_37 -1 known missense c.656 p.R219H 1.000 pfam_Uncharacterised_TM-40 pfam_Uncharacterised_TM-40 - no_errors TPRA1 HGNC ENSG00000163870 111 0 0 60 24 28.5714 TMEM40 0 genome.wustl.edu 37 3 12778317 12778317 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 12778317 12778317 C T SNP TMEM40 ENST00000431022 human ensembl 74_37 -1 known missense c.538 p.V180I 0.996 NULL NULL - no_errors TMEM40 HGNC ENSG00000088726 291 0 0 189 78 29.2135 CAND2 0 genome.wustl.edu 37 3 12892167 12892167 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 12892167 12892167 G A SNP CAND2 ENST00000454887 human ensembl 74_37 +1 putative missense c.277 p.A93T 1.000 pfam_TATA-bd_TIP120,superfamily_ARM-type_fold pfam_TATA-bd_TIP120,superfamily_ARM-type_fold - no_errors CAND2 HGNC ENSG00000144712 57 0 0 61 22 26.506 ASTE1 0 genome.wustl.edu 37 3 130743390 130743390 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 130743390 130743390 T C SNP ASTE1 ENST00000264992 human ensembl 74_37 -1 known missense c.761 p.H254R 0.924 NULL pfam_XPG_DNA_repair_N - no_errors ASTE1 HGNC ENSG00000034533 75 0 0 28 18 39.1304 PCOLCE2 0 genome.wustl.edu 37 3 142539759 142539759 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 142539759 142539759 G A SNP PCOLCE2 ENST00000485766 human ensembl 74_37 -1 putative missense c.839 p.A280V 0.983 NULL pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom - no_errors PCOLCE2 HGNC ENSG00000163710 51 0 0 55 10 15.3846 GRIP2 0 genome.wustl.edu 37 3 14564512 14564512 + RNA SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 14564512 14564512 G A SNP GRIP2 ENST00000273083 human ensembl 74_37 -1 known rna NULL NULL 0.122 - - - no_errors GRIP2 HGNC ENSG00000144596 107 0 0 64 45 41.2844 ZIC1 0 genome.wustl.edu 37 3 147128515 147128515 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 147128515 147128515 G A SNP ZIC1 ENST00000282928 human ensembl 74_37 +1 known missense c.616 p.A206T 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC1 HGNC ENSG00000152977 63 0 0 51 20 28.169 FGD5 0 genome.wustl.edu 37 3 14862390 14862390 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 14862390 14862390 C T SNP FGD5 ENST00000285046 human ensembl 74_37 +1 known silent c.1812 p.S604 0.996 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 104 0 0 73 24 24.7423 HACL1 0 genome.wustl.edu 37 3 15604925 15604925 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 15604925 15604925 G A SNP HACL1 ENST00000321169 human ensembl 74_37 -1 known silent c.1644 p.D548 0.849 pfam_TPP_enzyme-bd_C pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_Thiamin_PyroP_enz_cen_dom,pfam_TPP_enzyme-bd_C,pfam_CO_DH_CoA_synth - no_errors HACL1 HGNC ENSG00000131373 71 0 0 60 18 23.0769 OTOL1 0 genome.wustl.edu 37 3 161214699 161214699 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 161214699 161214699 C A SNP OTOL1 ENST00000327928 human ensembl 74_37 +1 known missense c.104 p.S35Y 0.983 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors OTOL1 HGNC ENSG00000182447 28 0 0 35 15 30 BCHE 0 genome.wustl.edu 37 3 165547538 165547538 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 165547538 165547538 G A SNP BCHE ENST00000264381 human ensembl 74_37 -1 known silent c.1284 p.C428 0.993 pfam_CarbesteraseB,prints_Cholinesterase pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 123 0 0 91 5 5.20833 PRKCI 0 genome.wustl.edu 37 3 169999697 169999697 + Silent SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 169999697 169999697 T C SNP PRKCI ENST00000295797 human ensembl 74_37 +1 known silent c.1008 p.N336 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,pirsf_PKC_zeta,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCI HGNC ENSG00000163558 107 0 0 51 16 23.8806 SLC7A14 0 genome.wustl.edu 37 3 170204021 170204021 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 170204021 170204021 G A SNP SLC7A14 ENST00000231706 human ensembl 74_37 -1 known missense c.896 p.A299V 0.999 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom - no_errors SLC7A14 HGNC ENSG00000013293 39 0 0 28 21 42.8571 NLGN1 0 genome.wustl.edu 37 3 173322839 173322839 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 173322839 173322839 G A SNP NLGN1 ENST00000401917 human ensembl 74_37 +1 known missense c.451 p.E151K 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 144 0 0 71 36 33.6449 TBC1D5 0 genome.wustl.edu 37 3 17550029 17550029 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 17550029 17550029 G A SNP TBC1D5 ENST00000253692 human ensembl 74_37 -1 known silent c.34 p.L12 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 TBC1D5 HGNC ENSG00000131374 125 0 0 82 19 18.8119 MCF2L2 0 genome.wustl.edu 37 3 183059378 183059378 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 183059378 183059378 T C SNP MCF2L2 ENST00000328913 human ensembl 74_37 -1 known missense c.316 p.R106G 1.000 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2L2 HGNC ENSG00000053524 76 0 0 37 18 32.7273 ABCC5 0 genome.wustl.edu 37 3 183705643 183705643 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 183705643 183705643 C A SNP ABCC5 ENST00000334444 human ensembl 74_37 -1 known missense c.506 p.R169M 1.000 superfamily_ABC1_TM_dom 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 - no_errors ABCC5 HGNC ENSG00000114770 68 0 0 65 21 24.4186 CHRD 0 genome.wustl.edu 37 3 184104636 184104636 + Nonsense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 184104636 184104636 C T SNP CHRD ENST00000204604 human ensembl 74_37 +1 known nonsense c.2200 p.R734* 1.000 pfam_VWF_C,smart_VWF_C,pirsf_Chordin,pfscan_VWF_C pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C - no_errors CHRD HGNC ENSG00000090539 54 0 0 39 19 32.7586 BCL6 0 genome.wustl.edu 37 3 187444607 187444607 + Silent SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 187444607 187444607 G T SNP BCL6 ENST00000232014 human ensembl 74_37 -1 known silent c.1620 p.T540 0.982 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 BCL6 HGNC ENSG00000113916 120 0 0 61 28 31.4607 TPRG1 0 genome.wustl.edu 37 3 189038422 189038422 + Missense_Mutation SNP G G C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 189038422 189038422 G C SNP TPRG1 ENST00000345063 human ensembl 74_37 +1 known missense c.641 p.G214A 0.708 NULL pfam_Inositol_phosphatase - no_errors TPRG1 HGNC ENSG00000188001 38 0 0 35 3 7.89474 MUC20 0 genome.wustl.edu 37 3 195452969 195452969 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 195452969 195452969 C T SNP MUC20 ENST00000447234 human ensembl 74_37 +1 known missense c.1495 p.P499S 0.000 NULL NULL - no_errors MUC20 HGNC ENSG00000176945 64 0 0 84 22 20.7547 SMCO1 0 genome.wustl.edu 37 3 196235165 196235165 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 196235165 196235165 C T SNP SMCO1 ENST00000397537 human ensembl 74_37 -1 known missense c.238 p.V80I 0.168 NULL NULL - no_errors SMCO1 HGNC ENSG00000214097 99 0 0 52 22 29.7297 OXSM 0 genome.wustl.edu 37 3 25833299 25833299 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 25833299 25833299 C A SNP OXSM ENST00000280701 human ensembl 74_37 +1 known missense c.788 p.A263E 0.998 pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2 pfam_Ketoacyl_synth_N,pfam_Ketoacyl_synth_C,pfam_Thiolase_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2 - no_errors OXSM HGNC ENSG00000151093 105 0 0 53 16 23.1884 CNTN4-AS1 0 genome.wustl.edu 37 3 3080721 3080721 + RNA SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 3080721 3080721 G A SNP CNTN4-AS1 ENST00000442749 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CNTN4-AS1 HGNC ENSG00000237990 33 0 0 11 8 42.1053 CMTM8 0 genome.wustl.edu 37 3 32409430 32409430 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 32409430 32409430 G A SNP CMTM8 ENST00000307526 human ensembl 74_37 +1 known missense c.388 p.V130I 0.995 pfam_Marvel pfam_Marvel,prints_MAL - no_errors CMTM8 HGNC ENSG00000170293 109 0 0 38 30 44.1176 TRIM71 0 genome.wustl.edu 37 3 32860361 32860361 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 32860361 32860361 G A SNP TRIM71 ENST00000383763 human ensembl 74_37 +1 known silent c.789 p.P263 0.994 NULL pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM71 HGNC ENSG00000206557 90 0 0 65 40 38.0952 PDCD6IP 0 genome.wustl.edu 37 3 33866819 33866819 + Missense_Mutation SNP A A T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 33866819 33866819 A T SNP PDCD6IP ENST00000457054 human ensembl 74_37 +1 known missense c.603 p.L201F 1.000 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfscan_BRO1_dom - no_errors PDCD6IP HGNC ENSG00000170248 102 0 0 45 25 35.7143 ACVR2B 0 genome.wustl.edu 37 3 38524050 38524050 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 38524050 38524050 C T SNP ACVR2B ENST00000352511 human ensembl 74_37 +1 known missense c.1343 p.P448L 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 ACVR2B HGNC ENSG00000114739 27 0 0 14 12 46.1538 SCN5A 0 genome.wustl.edu 37 3 38592162 38592162 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 38592162 38592162 C T SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.5701 p.E1901K 1.000 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 140 0 0 82 53 39.2593 SEC22C 0 genome.wustl.edu 37 3 42605166 42605166 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 42605166 42605166 G A SNP SEC22C ENST00000449617 human ensembl 74_37 -1 known missense c.311 p.S104L 0.006 NULL superfamily_Longin-like_dom - no_errors SEC22C HGNC ENSG00000093183 76 0 0 56 30 34.8837 ANO10 0 genome.wustl.edu 37 3 43618558 43618558 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 43618558 43618558 C T SNP ANO10 ENST00000292246 human ensembl 74_37 -1 known missense c.788 p.R263H 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO10 HGNC ENSG00000160746 96 0 0 60 46 43.3962 ZNF445 0 genome.wustl.edu 37 3 44489494 44489494 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 44489494 44489494 G A SNP ZNF445 ENST00000396077 human ensembl 74_37 -1 known missense c.1669 p.R557C 0.957 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF445 HGNC ENSG00000185219 174 0 0 69 34 33.0097 ZNF502 0 genome.wustl.edu 37 3 44763579 44763579 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 44763579 44763579 C T SNP ZNF502 ENST00000296091 human ensembl 74_37 +1 known missense c.1270 p.R424W 0.003 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF502 HGNC ENSG00000196653 51 0 0 38 8 17.3913 KIAA1143 0 genome.wustl.edu 37 3 44794850 44794850 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 44794850 44794850 C T SNP KIAA1143 ENST00000296121 human ensembl 74_37 -1 known missense c.448 p.E150K 1.000 NULL NULL - no_errors KIAA1143 HGNC ENSG00000163807 114 0 0 41 13 24.0741 TGM4 0 genome.wustl.edu 37 3 44952776 44952776 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 44952776 44952776 C T SNP TGM4 ENST00000296125 human ensembl 74_37 +1 known silent c.1791 p.G597 0.553 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM4 HGNC ENSG00000163810 144 0 0 82 38 31.6667 CCR1 0 genome.wustl.edu 37 3 46245704 46245704 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 46245704 46245704 G A SNP CCR1 ENST00000296140 human ensembl 74_37 -1 known missense c.101 p.A34V 0.126 prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_NPY_rcpt,prints_ATII_rcpt - no_errors CCR1 HGNC ENSG00000163823 60 0 0 36 20 35.7143 ITPR1 0 genome.wustl.edu 37 3 4715042 4715042 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 4715042 4715042 G A SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known silent c.2382 p.S794 0.004 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 152 0 0 76 58 43.2836 ITPR1 0 genome.wustl.edu 37 3 4715060 4715060 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 4715060 4715060 C T SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known silent c.2400 p.I800 0.982 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 153 0 0 134 10 6.94444 PLXNB1 0 genome.wustl.edu 37 3 48459458 48459458 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 48459458 48459458 G A SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known missense c.3236 p.T1079I 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT 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 PLXNB1 HGNC ENSG00000164050 57 0 0 49 25 33.7838 SLC26A6 0 genome.wustl.edu 37 3 48668054 48668054 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 48668054 48668054 C T SNP SLC26A6 ENST00000395550 human ensembl 74_37 -1 known missense c.1234 p.G412R 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 SLC26A6 HGNC ENSG00000225697 21 0 0 8 2 20 CELSR3 0 genome.wustl.edu 37 3 48696614 48696614 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 48696614 48696614 G A SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.3454 p.R1152W 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,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 CELSR3 HGNC ENSG00000008300 114 1 0.869565 81 21 20.5882 P4HTM 0 genome.wustl.edu 37 3 49042450 49042450 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 49042450 49042450 C T SNP P4HTM ENST00000343546 human ensembl 74_37 +1 known silent c.1044 p.N348 0.977 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 113 1 0.877193 80 48 37.5 QRICH1 0 genome.wustl.edu 37 3 49083909 49083909 + Silent SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 49083909 49083909 A G SNP QRICH1 ENST00000357496 human ensembl 74_37 -1 known silent c.1620 p.G540 0.998 NULL pfam_DUF3504,superfamily_DEATH-like_dom - no_errors QRICH1 HGNC ENSG00000198218 148 0 0 64 31 32.6316 USP4 0 genome.wustl.edu 37 3 49318216 49318216 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 49318216 49318216 C T SNP USP4 ENST00000265560 human ensembl 74_37 -1 known missense c.2605 p.A869T 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67 - no_errors USP4 HGNC ENSG00000114316 55 0 0 48 17 26.1538 BSN 0 genome.wustl.edu 37 3 49694655 49694655 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 49694655 49694655 C T SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.7666 p.R2556W 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 64 0 0 43 33 43.4211 GMPPB 0 genome.wustl.edu 37 3 49759471 49759471 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 49759471 49759471 C T SNP GMPPB ENST00000308375 human ensembl 74_37 -1 known missense c.878 p.R293Q 1.000 NULL pfam_NTP_transferase,pfam_Hexapep_transf - no_errors GMPPB HGNC ENSG00000173540 91 0 0 64 39 37.8641 IP6K1 0 genome.wustl.edu 37 3 49775735 49775735 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 49775735 49775735 C T SNP IP6K1 ENST00000321599 human ensembl 74_37 -1 known missense c.344 p.R115H 1.000 NULL pfam_IPK - no_errors IP6K1 HGNC ENSG00000176095 77 0 0 43 31 41.8919 TRAIP 0 genome.wustl.edu 37 3 49869390 49869390 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 49869390 49869390 G A SNP TRAIP ENST00000331456 human ensembl 74_37 -1 known silent c.996 p.S332 0.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors TRAIP HGNC ENSG00000183763 102 0 0 110 7 5.98291 HYAL2 0 genome.wustl.edu 37 3 50357136 50357136 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 50357136 50357136 C T SNP HYAL2 ENST00000357750 human ensembl 74_37 -1 known missense c.785 p.R262H 0.000 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL2 HGNC ENSG00000068001 80 0 0 55 34 38.2022 RASSF1 0 genome.wustl.edu 37 3 50369082 50369082 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 50369082 50369082 C T SNP RASSF1 ENST00000357043 human ensembl 74_37 -1 known missense c.680 p.R227H 0.353 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors RASSF1 HGNC ENSG00000068028 142 0 0 116 30 20.5479 GRM2 0 genome.wustl.edu 37 3 51749692 51749692 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 51749692 51749692 C T SNP GRM2 ENST00000395052 human ensembl 74_37 +1 known missense c.1903 p.R635W 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 82 0 0 49 36 42.3529 IQCF1 0 genome.wustl.edu 37 3 51929174 51929174 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 51929174 51929174 G A SNP IQCF1 ENST00000310914 human ensembl 74_37 -1 known missense c.350 p.A117V 0.000 superfamily_P-loop_NTPase pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCF1 HGNC ENSG00000173389 80 0 0 70 35 33.3333 DNAH1 0 genome.wustl.edu 37 3 52430481 52430481 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 52430481 52430481 C T SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.11357 p.P3786L 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 12 0 0 11 8 42.1053 STAB1 0 genome.wustl.edu 37 3 52552861 52552861 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 52552861 52552861 C T SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known silent c.5010 p.H1670 0.896 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_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 18 0 0 17 5 22.7273 SUCLG2 0 genome.wustl.edu 37 3 67548713 67548713 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 67548713 67548713 C T SNP SUCLG2 ENST00000307227 human ensembl 74_37 -1 known missense c.764 p.C255Y 1.000 tigrfam_Succ_CoA_synthase_bsu pfam_ATP-grasp_succ-CoA_synth-type,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,tigrfam_Succ_CoA_synthase_bsu - no_errors SUCLG2 HGNC ENSG00000172340 39 0 0 21 9 30 TADA3 0 genome.wustl.edu 37 3 9831424 9831424 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 9831424 9831424 C T SNP TADA3 ENST00000301964 human ensembl 74_37 -1 known missense c.431 p.R144Q 1.000 NULL pfam_Histone_AcTrfase_su3 - no_errors TADA3 HGNC ENSG00000171148 158 0 0 95 55 36.6667 WDR1 0 genome.wustl.edu 37 4 10083028 10083028 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 10083028 10083028 C T SNP WDR1 ENST00000382452 human ensembl 74_37 -1 known missense c.1237 p.V413I 0.486 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,prints_G-protein_beta_WD-40_rep - no_errors WDR1 HGNC ENSG00000071127 78 0 0 44 22 33.3333 SGMS2 0 genome.wustl.edu 37 4 108816772 108816772 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 108816772 108816772 G A SNP SGMS2 ENST00000359079 human ensembl 74_37 +1 known silent c.63 p.T21 0.010 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase - no_errors SGMS2 HGNC ENSG00000164023 115 0 0 95 5 5 COL25A1 0 genome.wustl.edu 37 4 109774059 109774059 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 109774059 109774059 G A SNP COL25A1 ENST00000399132 human ensembl 74_37 -1 known missense c.1343 p.T448M 1.000 pfam_Collagen pfam_Collagen - no_errors COL25A1 HGNC ENSG00000188517 83 0 0 49 28 36.3636 NUDT6 0 genome.wustl.edu 37 4 123838790 123838790 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 123838790 123838790 C T SNP NUDT6 ENST00000304430 human ensembl 74_37 -1 known missense c.308 p.R103Q 0.856 prints_Nudix_hydrolase6-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase6-like - no_errors NUDT6 HGNC ENSG00000170917 92 0 0 75 4 5.06329 FAT4 0 genome.wustl.edu 37 4 126371970 126371970 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 126371970 126371970 A G SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.9799 p.T3267A 0.999 pfam_Cadherin,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 75 0 0 39 25 39.0625 HSPA4L 0 genome.wustl.edu 37 4 128722950 128722950 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 128722950 128722950 G A SNP HSPA4L ENST00000439123 human ensembl 74_37 +1 known silent c.633 p.A211 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA4L HGNC ENSG00000164070 66 0 0 33 11 25 UVSSA 0 genome.wustl.edu 37 4 1348573 1348573 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 1348573 1348573 G A SNP UVSSA ENST00000389851 human ensembl 74_37 +1 known missense c.985 p.A329T 0.209 NULL pfam_DUF2043,superfamily_ENTH_VHS - no_errors UVSSA HGNC ENSG00000163945 37 0 0 55 4 6.77966 NKX3-2 0 genome.wustl.edu 37 4 13544093 13544093 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 13544093 13544093 C T SNP NKX3-2 ENST00000382438 human ensembl 74_37 -1 known missense c.526 p.A176T 0.001 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX3-2 HGNC ENSG00000109705 26 0 0 26 17 39.5349 UCP1 0 genome.wustl.edu 37 4 141488942 141488942 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 141488942 141488942 C T SNP UCP1 ENST00000262999 human ensembl 74_37 -1 known missense c.316 p.G106R 0.085 superfamily_Mt_carrier_dom,prints_Mit_uncoupling pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling - no_errors UCP1 HGNC ENSG00000109424 75 0 0 52 28 35 TBC1D9 0 genome.wustl.edu 37 4 141590148 141590148 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 141590148 141590148 C T SNP TBC1D9 ENST00000442267 human ensembl 74_37 -1 known missense c.1511 p.R504H 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9 HGNC ENSG00000109436 44 0 0 24 18 42.8571 HHIP 0 genome.wustl.edu 37 4 145568052 145568052 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 145568052 145568052 G A SNP HHIP ENST00000296575 human ensembl 74_37 +1 known silent c.225 p.R75 0.976 pfam_Folate_rcpt-like pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HHIP HGNC ENSG00000164161 72 0 0 38 24 38.7097 OTUD4 0 genome.wustl.edu 37 4 146058966 146058966 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 146058966 146058966 G A SNP OTUD4 ENST00000447906 human ensembl 74_37 -1 known silent c.2961 p.S987 0.048 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 207 0 0 166 12 6.74157 OTUD4 0 genome.wustl.edu 37 4 146059006 146059006 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 146059006 146059006 G A SNP OTUD4 ENST00000447906 human ensembl 74_37 -1 known missense c.2921 p.T974I 0.392 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 204 0 0 171 20 10.4712 OTUD4 0 genome.wustl.edu 37 4 146059041 146059041 + Silent SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 146059041 146059041 A G SNP OTUD4 ENST00000447906 human ensembl 74_37 -1 known silent c.2886 p.H962 0.001 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 194 0 0 161 14 8 NR3C2 0 genome.wustl.edu 37 4 149357500 149357500 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 149357500 149357500 G A SNP NR3C2 ENST00000355292 human ensembl 74_37 -1 known silent c.513 p.S171 0.369 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 165 0 0 103 37 26.4286 DCHS2 0 genome.wustl.edu 37 4 155254305 155254305 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 155254305 155254305 C T SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.1558 p.A520T 0.028 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 45 0 0 42 16 27.5862 TKTL2 0 genome.wustl.edu 37 4 164394544 164394544 + Nonsense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 164394544 164394544 G A SNP TKTL2 ENST00000280605 human ensembl 74_37 -1 known nonsense c.343 p.R115* 0.001 pfam_Transketolase_N pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL2 HGNC ENSG00000151005 68 0 0 48 28 36.8421 DCTD 0 genome.wustl.edu 37 4 183815664 183815664 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 183815664 183815664 G A SNP DCTD ENST00000357067 human ensembl 74_37 -1 known silent c.372 p.C124 0.935 pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like,pirsf_dCMP_deaminase pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like,pirsf_dCMP_deaminase - no_errors DCTD HGNC ENSG00000129187 40 0 0 29 24 45.283 WWC2 0 genome.wustl.edu 37 4 184166591 184166591 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 184166591 184166591 G T SNP WWC2 ENST00000448232 human ensembl 74_37 +1 known missense c.625 p.G209C 1.000 NULL pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWC2 HGNC ENSG00000151718 22 0 0 16 3 15.7895 HSP90AA4P 0 genome.wustl.edu 37 4 190396334 190396334 + RNA SNP T T G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 190396334 190396334 T G SNP HSP90AA4P ENST00000378770 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSP90AA4P HGNC ENSG00000205100 68 0 0 41 19 31.6667 WHSC1 0 genome.wustl.edu 37 4 1920186 1920186 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 1920186 1920186 C T SNP WHSC1 ENST00000382891 human ensembl 74_37 +1 known missense c.1246 p.P416S 0.011 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,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,pfscan_Znf_RING,pfscan_HMG_box_dom - no_errors WHSC1 HGNC ENSG00000109685 45 0 0 29 23 44.2308 FAM193A 0 genome.wustl.edu 37 4 2659551 2659551 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 2659551 2659551 C T SNP FAM193A ENST00000324666 human ensembl 74_37 +1 known missense c.460 p.R154C 1.000 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 180 0 0 98 22 18.3333 PCDH7 0 genome.wustl.edu 37 4 30726135 30726135 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 30726135 30726135 G A SNP PCDH7 ENST00000543491 human ensembl 74_37 +1 known missense c.3091 p.V1031M 1.000 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 50 0 0 53 5 8.62069 HTT 0 genome.wustl.edu 37 4 3134560 3134560 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 3134560 3134560 G A SNP HTT ENST00000355072 human ensembl 74_37 +1 known silent c.2415 p.A805 0.407 superfamily_ARM-type_fold pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 171 0 0 95 31 24.6032 LRPAP1 0 genome.wustl.edu 37 4 3526763 3526763 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 3526763 3526763 C T SNP LRPAP1 ENST00000500728 human ensembl 74_37 -1 known missense c.220 p.V74M 0.986 pfam_MG_RAP_rcpt_1,superfamily_MG_RAP_rcpt_1 pfam_Alpha_2_MRAP_C,pfam_MG_RAP_rcpt_1,superfamily_MG_RAP_rcpt_1 - no_errors LRPAP1 HGNC ENSG00000163956 162 0 0 94 48 33.8028 ARAP2 0 genome.wustl.edu 37 4 36161102 36161102 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 36161102 36161102 G A SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known missense c.2468 p.P823L 0.701 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 107 0 0 65 37 36.2745 WDR19 0 genome.wustl.edu 37 4 39230289 39230289 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 39230289 39230289 C T SNP WDR19 ENST00000399820 human ensembl 74_37 +1 known missense c.1961 p.A654V 0.960 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR19 HGNC ENSG00000157796 120 0 0 77 35 31.25 RFC1 0 genome.wustl.edu 37 4 39293450 39293450 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 39293450 39293450 C T SNP RFC1 ENST00000381897 human ensembl 74_37 -1 known missense c.2980 p.V994I 0.603 pfam_DNA_replication_fac_RFC1_C,pirsf_DNA_replication_fac_C_lsu pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_P-loop_NTPase,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom - no_errors RFC1 HGNC ENSG00000035928 78 0 0 45 19 29.6875 KCTD8 0 genome.wustl.edu 37 4 44450516 44450516 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 44450516 44450516 C T SNP KCTD8 ENST00000360029 human ensembl 74_37 -1 known missense c.25 p.G9S 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD8 HGNC ENSG00000183783 35 0 0 26 12 31.5789 MSX1 0 genome.wustl.edu 37 4 4864628 4864628 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 4864628 4864628 C T SNP MSX1 ENST00000382723 human ensembl 74_37 +1 known missense c.670 p.R224C 0.995 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 MSX1 HGNC ENSG00000163132 72 0 0 39 22 36.0656 PDGFRA 0 genome.wustl.edu 37 4 55146512 55146512 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 55146512 55146512 G T SNP PDGFRA ENST00000257290 human ensembl 74_37 +1 known missense c.2186 p.G729V 0.797 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 67 0 0 24 21 46.6667 JAKMIP1 0 genome.wustl.edu 37 4 6107538 6107538 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 6107538 6107538 C T SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known missense c.286 p.E96K 1.000 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 41 0 0 24 17 41.4634 LPHN3 0 genome.wustl.edu 37 4 62598963 62598963 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 62598963 62598963 C T SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known missense c.1090 p.R364W 0.992 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 31 0 0 31 14 31.1111 PPP2R2C 0 genome.wustl.edu 37 4 6374306 6374306 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 6374306 6374306 G A SNP PPP2R2C ENST00000335585 human ensembl 74_37 -1 known missense c.569 p.S190L 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2C HGNC ENSG00000074211 155 0 0 97 49 33.5616 TMPRSS11F 0 genome.wustl.edu 37 4 68964641 68964641 + Missense_Mutation SNP T T A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 68964641 68964641 T A SNP TMPRSS11F ENST00000356291 human ensembl 74_37 -1 known missense c.127 p.I43F 1.000 pirsf_Pept_S1A_HAT/DESC1 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_SEA_dom,pfscan_Peptidase_S1 - no_errors TMPRSS11F HGNC ENSG00000198092 91 0 0 46 19 29.2308 UGT2B28 0 genome.wustl.edu 37 4 70152481 70152481 + Silent SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 70152481 70152481 A G SNP UGT2B28 ENST00000335568 human ensembl 74_37 +1 known silent c.882 p.E294 0.999 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B28 HGNC ENSG00000135226 234 1 0.425532 181 10 5.2356 COX18 0 genome.wustl.edu 37 4 73930979 73930979 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 73930979 73930979 C T SNP COX18 ENST00000295890 human ensembl 74_37 -1 known missense c.586 p.A196T 0.000 pfam_Membrane_insert_OXA1/ALB3/YidC pfam_Membrane_insert_OXA1/ALB3/YidC - no_errors COX18 HGNC ENSG00000163626 83 0 0 37 22 37.2881 ANKRD17 0 genome.wustl.edu 37 4 73956848 73956848 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 73956848 73956848 C T SNP ANKRD17 ENST00000358602 human ensembl 74_37 -1 known missense c.6497 p.C2166Y 0.807 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKRD17 HGNC ENSG00000132466 257 0 0 139 76 35.3488 ANKRD17 0 genome.wustl.edu 37 4 74021806 74021806 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 74021806 74021806 T C SNP ANKRD17 ENST00000358602 human ensembl 74_37 -1 known missense c.782 p.N261S 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKRD17 HGNC ENSG00000132466 80 0 0 37 21 36.2069 SEC31A 0 genome.wustl.edu 37 4 83799934 83799934 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 83799934 83799934 C T SNP SEC31A ENST00000432794 human ensembl 74_37 -1 known silent c.351 p.Q117 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 114 0 0 46 21 31.3433 PTPN13 0 genome.wustl.edu 37 4 87662887 87662887 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 87662887 87662887 T C SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known missense c.2405 p.V802A 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_FERM_PH-like_C,pfscan_FERM_domain pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 23 0 0 21 7 25 PTPN13 0 genome.wustl.edu 37 4 87735693 87735693 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 87735693 87735693 C A SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known missense c.7462 p.L2488I 0.120 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 45 0 0 29 13 30.9524 PKD2 0 genome.wustl.edu 37 4 88996024 88996024 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 88996024 88996024 C T SNP PKD2 ENST00000237596 human ensembl 74_37 +1 known silent c.2583 p.D861 0.992 prints_PKD_2 pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2 HGNC ENSG00000118762 118 1 0.840336 61 44 41.9048 HERC5 0 genome.wustl.edu 37 4 89415436 89415436 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 89415436 89415436 A G SNP HERC5 ENST00000264350 human ensembl 74_37 +1 known missense c.2398 p.M800V 0.022 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC5 HGNC ENSG00000138646 56 0 0 17 9 34.6154 FAM13A 0 genome.wustl.edu 37 4 89658707 89658707 + Splice_Site SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 89658707 89658707 C A SNP FAM13A ENST00000264344 human ensembl 74_37 -1 known splice_site c.2563-1 e21-1 1.000 - - - no_errors FAM13A HGNC ENSG00000138640 81 0 0 53 15 22.0588 GRID2 0 genome.wustl.edu 37 4 94316824 94316824 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 94316824 94316824 A G SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known missense c.1312 p.M438V 1.000 superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 129 0 0 84 18 17.6471 DGKQ 0 genome.wustl.edu 37 4 960274 960274 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 960274 960274 G A SNP DGKQ ENST00000273814 human ensembl 74_37 -1 known missense c.1408 p.R470W 0.647 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ras-assoc,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKQ HGNC ENSG00000145214 62 0 0 41 21 33.871 SLCO4C1 0 genome.wustl.edu 37 5 101631744 101631744 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 101631744 101631744 G A SNP SLCO4C1 ENST00000310954 human ensembl 74_37 -1 known missense c.223 p.L75F 0.000 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4C1 HGNC ENSG00000173930 96 0 0 64 40 38.4615 SLC12A7 0 genome.wustl.edu 37 5 1089189 1089189 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 1089189 1089189 G T SNP SLC12A7 ENST00000264930 human ensembl 74_37 -1 known missense c.397 p.L133M 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 136 0 0 141 10 6.62252 KCNN2 0 genome.wustl.edu 37 5 113698585 113698585 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 113698585 113698585 C T SNP KCNN2 ENST00000264773 human ensembl 74_37 +1 known missense c.113 p.A38V 0.055 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 KCNN2 HGNC ENSG00000080709 14 0 0 18 16 47.0588 CTNND2 0 genome.wustl.edu 37 5 11384986 11384986 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 11384986 11384986 G A SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known missense c.968 p.S323L 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 25 0 0 21 12 36.3636 ATG12 0 genome.wustl.edu 37 5 115177372 115177372 + Nonsense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 115177372 115177372 G A SNP ATG12 ENST00000274459 human ensembl 74_37 -1 known nonsense c.19 p.Q7* 0.000 NULL pfam_Atg12,pfam_Atg8_fam - no_errors ATG12 HGNC ENSG00000145782 124 0 0 80 49 37.9845 AQPEP 0 genome.wustl.edu 37 5 115298779 115298779 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 115298779 115298779 C T SNP AQPEP ENST00000357872 human ensembl 74_37 +1 known silent c.465 p.R155 0.009 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_gn ENSG00000172901 62 0 0 65 4 5.7971 FTMT 0 genome.wustl.edu 37 5 121188080 121188080 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 121188080 121188080 G A SNP FTMT ENST00000321339 human ensembl 74_37 +1 known missense c.422 p.R141H 0.999 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 FTMT HGNC ENSG00000181867 113 0 0 95 47 33.0986 LOX 0 genome.wustl.edu 37 5 121413317 121413317 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 121413317 121413317 G A SNP LOX ENST00000231004 human ensembl 74_37 -1 known missense c.364 p.R122C 1.000 NULL pfam_Lysyl_oxidase,prints_Lysyl_oxidase - no_errors LOX HGNC ENSG00000113083 35 0 0 29 16 35.5556 SHROOM1 0 genome.wustl.edu 37 5 132158995 132158995 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 132158995 132158995 G A SNP SHROOM1 ENST00000378679 human ensembl 74_37 -1 known missense c.2173 p.R725C 1.000 pfam_ASD2 pfam_ASD2,pfam_ASD1 - no_errors SHROOM1 HGNC ENSG00000164403 37 0 0 42 18 30 FSTL4 0 genome.wustl.edu 37 5 132545909 132545909 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 132545909 132545909 C T SNP FSTL4 ENST00000265342 human ensembl 74_37 -1 known missense c.1690 p.V564M 0.361 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL4 HGNC ENSG00000053108 43 0 0 31 17 35.4167 TCF7 0 genome.wustl.edu 37 5 133481970 133481970 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 133481970 133481970 G A SNP TCF7 ENST00000432532 human ensembl 74_37 +1 known missense c.859 p.V287I 1.000 NULL pfam_HMG_box_dom,pfam_CTNNB1-bd_N,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7 HGNC ENSG00000081059 241 0 0 119 67 36.0215 PITX1 0 genome.wustl.edu 37 5 134364669 134364669 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 134364669 134364669 T C SNP PITX1 ENST00000265340 human ensembl 74_37 -1 known missense c.745 p.T249A 1.000 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 79 0 0 34 39 53.4247 NEUROG1 0 genome.wustl.edu 37 5 134870907 134870907 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 134870907 134870907 G A SNP NEUROG1 ENST00000314744 human ensembl 74_37 -1 known silent c.474 p.G158 0.002 superfamily_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors NEUROG1 HGNC ENSG00000181965 44 0 0 38 18 32.1429 TRPC7 0 genome.wustl.edu 37 5 135692718 135692718 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 135692718 135692718 G A SNP TRPC7 ENST00000513104 human ensembl 74_37 -1 known missense c.358 p.R120C 1.000 superfamily_Ankyrin_rpt-contain_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_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC ENSG00000069018 53 0 0 60 24 28.5714 LRRTM2 0 genome.wustl.edu 37 5 138208851 138208851 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 138208851 138208851 G T SNP LRRTM2 ENST00000274711 human ensembl 74_37 -1 known missense c.1399 p.L467I 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM2 HGNC ENSG00000146006 98 0 0 70 32 31.3725 PAIP2 0 genome.wustl.edu 37 5 138700290 138700290 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 138700290 138700290 G A SNP PAIP2 ENST00000265192 human ensembl 74_37 +1 known missense c.176 p.R59H 1.000 NULL pfam_Ataxin-2_C - no_errors PAIP2 HGNC ENSG00000120727 67 0 0 26 11 29.7297 DNAJC18 0 genome.wustl.edu 37 5 138773104 138773104 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 138773104 138773104 C T SNP DNAJC18 ENST00000302060 human ensembl 74_37 -1 known missense c.184 p.G62R 0.957 NULL pfam_DUF1977_DnaJ-like,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC18 HGNC ENSG00000170464 83 0 0 43 27 38.5714 DNAH5 0 genome.wustl.edu 37 5 13885313 13885313 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 13885313 13885313 T C SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.2768 p.D923G 0.041 NULL 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 DNAH5 HGNC ENSG00000039139 62 0 0 23 19 45.2381 NDUFA2 0 genome.wustl.edu 37 5 140027106 140027106 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 140027106 140027106 G A SNP NDUFA2 ENST00000252102 human ensembl 74_37 -1 known silent c.63 p.I21 1.000 superfamily_Thioredoxin-like_fold,pirsf_NADH_Ub_cplx-1_asu_su-2 pfam_Ribosome/NADH_DH,superfamily_Thioredoxin-like_fold,smart_Ribosome/NADH_DH,pirsf_NADH_Ub_cplx-1_asu_su-2 - no_errors NDUFA2 HGNC ENSG00000131495 41 0 0 30 19 38.7755 HARS2 0 genome.wustl.edu 37 5 140077214 140077214 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 140077214 140077214 A G SNP HARS2 ENST00000230771 human ensembl 74_37 +1 known missense c.1258 p.N420D 1.000 pfam_Anticodon-bd,superfamily_Anticodon-bd,pirsf_HisRS/HisZ,tigrfam_His-tRNA-ligase pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,superfamily_Anticodon-bd,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,tigrfam_His-tRNA-ligase - no_errors HARS2 HGNC ENSG00000112855 144 0 0 69 39 36.1111 PCDHA3 0 genome.wustl.edu 37 5 140182243 140182243 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 140182243 140182243 C T SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known silent c.1461 p.N487 0.997 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 PCDHA3 HGNC ENSG00000255408 226 0 0 195 81 29.3478 PCDHA4 0 genome.wustl.edu 37 5 140188216 140188216 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 140188216 140188216 G A SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known missense c.1444 p.A482T 0.871 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 PCDHA4 HGNC ENSG00000204967 131 0 0 109 50 31.4465 PCDHA7 0 genome.wustl.edu 37 5 140215247 140215247 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 140215247 140215247 G A SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known missense c.1279 p.A427T 0.992 pfam_Cadherin,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 PCDHA7 HGNC ENSG00000204963 242 0 0 153 95 38.3065 PCDHA11 0 genome.wustl.edu 37 5 140250554 140250554 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 140250554 140250554 C T SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known silent c.1866 p.R622 0.973 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 PCDHA11 HGNC ENSG00000249158 85 0 0 111 55 33.1325 PCDHA12 0 genome.wustl.edu 37 5 140256852 140256852 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 140256852 140256852 G A SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known missense c.1795 p.A599T 1.000 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 PCDHA12 HGNC ENSG00000251664 116 0 0 127 67 34.5361 PCDHA13 0 genome.wustl.edu 37 5 140263524 140263524 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 140263524 140263524 C T SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known silent c.1671 p.D557 0.716 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 PCDHA13 HGNC ENSG00000239389 185 1 0.537634 170 91 34.8659 PCDHB2 0 genome.wustl.edu 37 5 140475274 140475274 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 140475274 140475274 G A SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known silent c.900 p.S300 0.147 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 PCDHB2 HGNC ENSG00000112852 104 0 0 58 26 30.9524 PCDHB7 0 genome.wustl.edu 37 5 140553683 140553683 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 140553683 140553683 G A SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known missense c.1267 p.V423I 0.958 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 PCDHB7 HGNC ENSG00000113212 142 0 0 116 61 34.4633 PCDHB12 0 genome.wustl.edu 37 5 140589878 140589878 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 140589878 140589878 G A SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known missense c.1399 p.A467T 0.981 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 217 0 0 217 105 32.6087 PCDHB13 0 genome.wustl.edu 37 5 140594150 140594150 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 140594150 140594150 C T SNP PCDHB13 ENST00000341948 human ensembl 74_37 +1 known missense c.455 p.T152M 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC ENSG00000187372 133 0 0 68 39 36.4486 PCDHB18 0 genome.wustl.edu 37 5 140616147 140616147 + RNA SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 140616147 140616147 C T SNP PCDHB18 ENST00000526308 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PCDHB18 HGNC ENSG00000146001 109 0 0 103 55 34.8101 PCDHB15 0 genome.wustl.edu 37 5 140626476 140626476 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 140626476 140626476 G A SNP PCDHB15 ENST00000231173 human ensembl 74_37 +1 known missense c.1330 p.V444I 0.998 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB15 HGNC ENSG00000113248 180 1 0.552486 155 88 36.214 PCDHGA1 0 genome.wustl.edu 37 5 140712338 140712338 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 140712338 140712338 C T SNP PCDHGA1 ENST00000517417 human ensembl 74_37 +1 known missense c.2087 p.A696V 0.999 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC ENSG00000204956 205 1 0.485437 184 64 25.8065 PCDHGA6 0 genome.wustl.edu 37 5 140755314 140755314 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 140755314 140755314 A G SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known missense c.1664 p.Q555R 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 PCDHGA6 HGNC ENSG00000253731 237 1 0.420168 256 79 23.5821 PCDHGA9 0 genome.wustl.edu 37 5 140784685 140784685 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 140784685 140784685 G A SNP PCDHGA9 ENST00000573521 human ensembl 74_37 +1 known silent c.2166 p.S722 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA9 HGNC ENSG00000261934 78 0 0 80 5 5.88235 SPINK5 0 genome.wustl.edu 37 5 147505095 147505095 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 147505095 147505095 C T SNP SPINK5 ENST00000359874 human ensembl 74_37 +1 known silent c.2748 p.C916 0.915 NULL pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK5 HGNC ENSG00000133710 26 0 0 33 8 19.5122 SLC36A1 0 genome.wustl.edu 37 5 150847278 150847278 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 150847278 150847278 C T SNP SLC36A1 ENST00000243389 human ensembl 74_37 +1 known missense c.515 p.A172V 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A1 HGNC ENSG00000123643 137 0 0 79 43 35.2459 SGCD 0 genome.wustl.edu 37 5 155771622 155771622 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 155771622 155771622 A G SNP SGCD ENST00000337851 human ensembl 74_37 +1 known missense c.127 p.M43V 1.000 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCD HGNC ENSG00000170624 80 0 0 53 24 31.1688 SOX30 0 genome.wustl.edu 37 5 157065329 157065329 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 157065329 157065329 G T SNP SOX30 ENST00000265007 human ensembl 74_37 -1 known missense c.1789 p.L597I 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX30 HGNC ENSG00000039600 46 0 0 30 19 38.7755 ENSG00000253798 0 genome.wustl.edu 37 5 157117231 157117231 + RNA SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 157117231 157117231 G A SNP ENSG00000253798 ENST00000522076 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors AC008694.3 Clone_based_vega_gene ENSG00000253798 82 0 0 49 32 39.5062 FBXL7 0 genome.wustl.edu 37 5 15937257 15937257 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 15937257 15937257 C T SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known missense c.1438 p.R480C 1.000 NULL pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL7 HGNC ENSG00000183580 18 0 0 17 13 43.3333 STC2 0 genome.wustl.edu 37 5 172750373 172750373 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 172750373 172750373 C T SNP STC2 ENST00000265087 human ensembl 74_37 -1 known missense c.355 p.G119S 1.000 pfam_Stanniocalcin pfam_Stanniocalcin - no_errors STC2 HGNC ENSG00000113739 37 0 0 30 14 31.8182 BOD1 0 genome.wustl.edu 37 5 173036595 173036595 + RNA SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 173036595 173036595 G A SNP BOD1 ENST00000471339 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors BOD1 HGNC ENSG00000145919 8 0 0 5 5 50 HK3 0 genome.wustl.edu 37 5 176314250 176314250 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 176314250 176314250 G A SNP HK3 ENST00000292432 human ensembl 74_37 -1 known silent c.1689 p.S563 0.575 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK3 HGNC ENSG00000160883 82 0 0 54 26 32.5 DDX41 0 genome.wustl.edu 37 5 176940764 176940764 + Nonsense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 176940764 176940764 G T SNP DDX41 ENST00000507955 human ensembl 74_37 -1 known nonsense c.1020 p.Y340* 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX41 HGNC ENSG00000183258 90 0 0 87 7 7.44681 RMND5B 0 genome.wustl.edu 37 5 177571054 177571054 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 177571054 177571054 G A SNP RMND5B ENST00000313386 human ensembl 74_37 +1 known silent c.639 p.L213 1.000 smart_CRA_dom smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RMND5B HGNC ENSG00000145916 97 0 0 64 44 40.7407 ZNF354A 0 genome.wustl.edu 37 5 178154086 178154086 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 178154086 178154086 C T SNP ZNF354A ENST00000335815 human ensembl 74_37 -1 known missense c.74 p.R25Q 0.992 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 ZNF354A HGNC ENSG00000169131 88 0 0 70 35 33.3333 GRM6 0 genome.wustl.edu 37 5 178410152 178410152 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 178410152 178410152 G A SNP GRM6 ENST00000231188 human ensembl 74_37 -1 known missense c.2195 p.T732M 0.991 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_4 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 74 0 0 50 24 32.4324 CANX 0 genome.wustl.edu 37 5 179132840 179132840 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 179132840 179132840 C A SNP CANX ENST00000415618 human ensembl 74_37 +1 known missense c.263 p.P88H 0.999 NULL pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex - no_errors CANX HGNC ENSG00000127022 195 0 0 98 59 37.5796 FLT4 0 genome.wustl.edu 37 5 180047278 180047278 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 180047278 180047278 G T SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known missense c.2437 p.L813M 1.000 superfamily_Kinase-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 166 0 0 111 35 23.9726 FLT4 0 genome.wustl.edu 37 5 180052971 180052971 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 180052971 180052971 C T SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known missense c.1319 p.R440H 1.000 smart_Ig_sub,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 124 0 0 84 49 36.8421 PLEKHG4B 0 genome.wustl.edu 37 5 182187 182187 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 182187 182187 T C SNP PLEKHG4B ENST00000283426 human ensembl 74_37 +1 known missense c.3565 p.S1189P 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4B HGNC ENSG00000153404 163 1 0.609756 107 53 33.125 CDH18 0 genome.wustl.edu 37 5 19473685 19473685 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 19473685 19473685 C A SNP CDH18 ENST00000274170 human ensembl 74_37 -1 known missense c.2023 p.A675S 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 133 0 0 94 47 33.3333 SDHA 0 genome.wustl.edu 37 5 235283 235283 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 235283 235283 C T SNP SDHA ENST00000264932 human ensembl 74_37 +1 known silent c.1089 p.H363 0.988 pfam_FAD_bind_dom,superfamily_Succ_DH/fumarate_Rdtase_cat,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Succ_DH/fumarate_Rdtase_cat,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg - no_errors SDHA HGNC ENSG00000073578 58 0 0 51 29 36.25 PDZD2 0 genome.wustl.edu 37 5 31983413 31983413 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 31983413 31983413 C T SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.629 p.A210V 0.001 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 101 0 0 74 42 36.2069 RAI14 0 genome.wustl.edu 37 5 34823757 34823757 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 34823757 34823757 G A SNP RAI14 ENST00000515799 human ensembl 74_37 +1 known missense c.1819 p.A607T 0.999 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_t-SNARE,superfamily_UBA-like,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors RAI14 HGNC ENSG00000039560 72 0 0 46 5 9.80392 NIPBL 0 genome.wustl.edu 37 5 36985440 36985440 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 36985440 36985440 G T SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.2158 p.G720W 0.165 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 100 0 0 89 51 36.4286 NUP155 0 genome.wustl.edu 37 5 37314390 37314390 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 37314390 37314390 C T SNP NUP155 ENST00000231498 human ensembl 74_37 -1 known silent c.2346 p.Q782 1.000 pfam_Nucleoporin_Nup133/Nup155_C pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC ENSG00000113569 71 0 0 41 16 28.0702 ENSG00000272234 0 genome.wustl.edu 37 5 42806957 42806957 + RNA SNP T T A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 42806957 42806957 T A SNP ENSG00000272234 ENST00000606056 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2325A15.5 Clone_based_vega_gene ENSG00000272234 33 0 0 5 4 44.4444 ADAMTS16 0 genome.wustl.edu 37 5 5303508 5303508 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 5303508 5303508 C T SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.2917 p.P973S 0.998 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 12 0 0 14 8 36.3636 SNX18 0 genome.wustl.edu 37 5 53814902 53814902 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 53814902 53814902 G T SNP SNX18 ENST00000326277 human ensembl 74_37 +1 known missense c.1120 p.V374F 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pirsf_Snx9,pfscan_Phox pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX18 HGNC ENSG00000178996 56 0 0 36 22 37.931 SNX18 0 genome.wustl.edu 37 5 53815132 53815132 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 53815132 53815132 C T SNP SNX18 ENST00000326277 human ensembl 74_37 +1 known silent c.1350 p.N450 1.000 pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9 pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX18 HGNC ENSG00000178996 84 0 0 63 30 32.2581 GZMK 0 genome.wustl.edu 37 5 54327395 54327395 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 54327395 54327395 C T SNP GZMK ENST00000231009 human ensembl 74_37 +1 known silent c.567 p.G189 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors GZMK HGNC ENSG00000113088 92 0 0 56 20 26.3158 KIAA0947 0 genome.wustl.edu 37 5 5463611 5463611 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 5463611 5463611 C T SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known silent c.4164 p.C1388 0.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 16 0 0 19 5 20.8333 GPBP1 0 genome.wustl.edu 37 5 56531794 56531794 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 56531794 56531794 C T SNP GPBP1 ENST00000424459 human ensembl 74_37 +1 known missense c.413 p.P138L 0.998 NULL NULL - no_errors GPBP1 HGNC ENSG00000062194 100 0 0 44 9 16.9811 SV2C 0 genome.wustl.edu 37 5 75427714 75427714 + Missense_Mutation SNP A A T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 75427714 75427714 A T SNP SV2C ENST00000502798 human ensembl 74_37 +1 known missense c.139 p.S47C 1.000 superfamily_MFS_dom_general_subst_transpt,tigrfam_SV2 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2C HGNC ENSG00000122012 96 0 0 64 37 36.6337 CKMT2 0 genome.wustl.edu 37 5 80550808 80550808 + RNA SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 80550808 80550808 G A SNP CKMT2 ENST00000515615 human ensembl 74_37 +1 known rna NULL NULL 0.399 - - - no_errors CKMT2 HGNC ENSG00000131730 77 0 0 50 23 31.5068 NR2F1 0 genome.wustl.edu 37 5 92923833 92923833 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 92923833 92923833 G A SNP NR2F1 ENST00000327111 human ensembl 74_37 +1 known missense c.674 p.R225H 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_COUP_TF,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F1 HGNC ENSG00000175745 118 0 0 93 40 30.0752 NR2F1 0 genome.wustl.edu 37 5 92929431 92929431 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 92929431 92929431 C T SNP NR2F1 ENST00000327111 human ensembl 74_37 +1 known silent c.1155 p.I385 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_COUP_TF,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F1 HGNC ENSG00000175745 149 0 0 95 59 38.3117 FAM81B 0 genome.wustl.edu 37 5 94782294 94782294 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 94782294 94782294 G A SNP FAM81B ENST00000283357 human ensembl 74_37 +1 known missense c.922 p.E308K 0.918 NULL NULL - no_errors FAM81B HGNC ENSG00000153347 24 0 0 18 9 33.3333 RHOBTB3 0 genome.wustl.edu 37 5 95067805 95067805 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 95067805 95067805 G A SNP RHOBTB3 ENST00000506817 human ensembl 74_37 +1 putative missense c.245 p.C82Y 0.919 NULL NULL - no_errors RHOBTB3 HGNC ENSG00000164292 27 0 0 30 9 23.0769 SIM1 0 genome.wustl.edu 37 6 100896062 100896062 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 100896062 100896062 G A SNP SIM1 ENST00000262901 human ensembl 74_37 -1 known silent c.810 p.H270 1.000 pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS pfam_SIM_C,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 - no_errors SIM1 HGNC ENSG00000112246 34 0 0 24 11 31.4286 GRIK2 0 genome.wustl.edu 37 6 102134229 102134229 + Splice_Site SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 102134229 102134229 G A SNP GRIK2 ENST00000421544 human ensembl 74_37 +1 known splice_site c.951+1 e6+1 1.000 - - - no_errors GRIK2 HGNC ENSG00000164418 82 0 0 40 20 33.3333 GRIK2 0 genome.wustl.edu 37 6 102483233 102483233 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 102483233 102483233 G A SNP GRIK2 ENST00000421544 human ensembl 74_37 +1 known silent c.2103 p.T701 0.019 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt 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 GRIK2 HGNC ENSG00000164418 83 0 0 62 22 26.1905 SMPD2 0 genome.wustl.edu 37 6 109764884 109764884 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 109764884 109764884 G A SNP SMPD2 ENST00000258052 human ensembl 74_37 +1 known missense c.1048 p.A350T 0.000 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors SMPD2 HGNC ENSG00000135587 83 0 0 47 26 35.6164 METTL24 0 genome.wustl.edu 37 6 110636677 110636677 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 110636677 110636677 C T SNP METTL24 ENST00000338882 human ensembl 74_37 -1 known missense c.425 p.C142Y 0.989 NULL NULL - no_errors METTL24 HGNC ENSG00000053328 112 0 0 45 24 34.7826 REV3L 0 genome.wustl.edu 37 6 111694065 111694065 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 111694065 111694065 G A SNP REV3L ENST00000358835 human ensembl 74_37 -1 known silent c.5493 p.D1831 1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 181 0 0 88 73 45.3416 FYN 0 genome.wustl.edu 37 6 112015695 112015695 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 112015695 112015695 A G SNP FYN ENST00000354650 human ensembl 74_37 -1 known missense c.1156 p.Y386H 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_SH2,pfam_SH3_domain,pfam_SH3_2,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,prints_SH3_domain - no_errors FYN HGNC ENSG00000010810 189 0 0 122 73 37.4359 HIVEP1 0 genome.wustl.edu 37 6 12123069 12123069 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 12123069 12123069 G T SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known missense c.3041 p.R1014I 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 225 0 0 129 92 41.629 NKAIN2 0 genome.wustl.edu 37 6 124979530 124979530 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 124979530 124979530 G A SNP NKAIN2 ENST00000368417 human ensembl 74_37 +1 known missense c.472 p.A158T 1.000 pfam_Na/K-Atpase_Interacting pfam_Na/K-Atpase_Interacting - no_errors NKAIN2 HGNC ENSG00000188580 50 0 0 42 24 36.3636 HDDC2 0 genome.wustl.edu 37 6 125621700 125621700 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 125621700 125621700 G T SNP HDDC2 ENST00000398153 human ensembl 74_37 -1 known missense c.190 p.R64S 0.002 pfam_HD_domain,smart_HD/PDEase_dom pfam_HD_domain,smart_HD/PDEase_dom - no_errors HDDC2 HGNC ENSG00000111906 111 0 0 88 5 5.37634 NCOA7 0 genome.wustl.edu 37 6 126210197 126210197 + Nonsense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 126210197 126210197 C T SNP NCOA7 ENST00000368357 human ensembl 74_37 +1 known nonsense c.997 p.R333* 1.000 NULL pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc - no_errors NCOA7 HGNC ENSG00000111912 159 0 0 85 50 37.037 PTPRK 0 genome.wustl.edu 37 6 128404958 128404958 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 128404958 128404958 C T SNP PTPRK ENST00000368227 human ensembl 74_37 -1 known missense c.1477 p.V493I 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,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 PTPRK HGNC ENSG00000152894 63 0 0 29 12 29.2683 AHI1 0 genome.wustl.edu 37 6 135811814 135811814 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 135811814 135811814 G A SNP AHI1 ENST00000265602 human ensembl 74_37 -1 known missense c.82 p.R28C 0.000 NULL pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain - no_errors AHI1 HGNC ENSG00000135541 123 0 0 69 38 35.514 RANBP9 0 genome.wustl.edu 37 6 13711196 13711196 + Missense_Mutation SNP G G C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 13711196 13711196 G C SNP RANBP9 ENST00000011619 human ensembl 74_37 -1 known missense c.542 p.S181C 0.998 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP9 HGNC ENSG00000010017 22 0 0 19 5 20.8333 PEX7 0 genome.wustl.edu 37 6 137191048 137191048 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 137191048 137191048 G A SNP PEX7 ENST00000318471 human ensembl 74_37 +1 known silent c.654 p.A218 0.960 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,prints_G-protein_beta_WD-40_rep - no_errors PEX7 HGNC ENSG00000112357 360 0 0 175 94 34.9442 KIAA1244 0 genome.wustl.edu 37 6 138655927 138655927 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 138655927 138655927 G A SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known missense c.5944 p.G1982S 0.000 NULL pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 12 0 0 22 8 26.6667 HIVEP2 0 genome.wustl.edu 37 6 143094904 143094904 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 143094904 143094904 C A SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known missense c.972 p.K324N 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 104 0 0 55 24 30.3797 PEX3 0 genome.wustl.edu 37 6 143793296 143793296 + Splice_Site SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 143793296 143793296 G T SNP PEX3 ENST00000367591 human ensembl 74_37 +1 known splice_site c.579-1 e8-1 1.000 - - - no_errors PEX3 HGNC ENSG00000034693 35 0 0 11 9 45 FBXO30 0 genome.wustl.edu 37 6 146127127 146127127 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 146127127 146127127 C T SNP FBXO30 ENST00000237281 human ensembl 74_37 -1 known missense c.415 p.A139T 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,superfamily_TRAF-like,pfscan_F-box_dom,pfscan_Znf_TRAF - no_errors FBXO30 HGNC ENSG00000118496 159 0 0 70 28 28.5714 PLEKHG1 0 genome.wustl.edu 37 6 151153303 151153303 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 151153303 151153303 C T SNP PLEKHG1 ENST00000358517 human ensembl 74_37 +1 known missense c.3056 p.A1019V 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 125 0 0 84 52 38.2353 SYNE1 0 genome.wustl.edu 37 6 152529216 152529216 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 152529216 152529216 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.22715 p.A7572V 1.000 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 99 0 0 70 5 6.66667 SYNE1 0 genome.wustl.edu 37 6 152623082 152623082 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 152623082 152623082 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.17463 p.V5821 0.968 pfam_Spectrin_repeat,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 52 0 0 66 9 12 IGF2R 0 genome.wustl.edu 37 6 160479944 160479944 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 160479944 160479944 G A SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known missense c.2905 p.V969I 0.993 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 96 0 0 58 25 30.1205 SLC22A2 0 genome.wustl.edu 37 6 160679772 160679772 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 160679772 160679772 G A SNP SLC22A2 ENST00000366953 human ensembl 74_37 -1 known silent c.18 p.D6 1.000 NULL pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A2 HGNC ENSG00000112499 43 0 0 42 24 36.3636 MLLT4 0 genome.wustl.edu 37 6 168363236 168363236 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 168363236 168363236 G A SNP MLLT4 ENST00000366806 human ensembl 74_37 +1 known missense c.4936 p.A1646T 1.000 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 175 0 0 118 44 27.1605 WDR27 0 genome.wustl.edu 37 6 170089045 170089045 + Silent SNP A A T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 170089045 170089045 A T SNP WDR27 ENST00000448612 human ensembl 74_37 -1 known silent c.57 p.V19 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR27 HGNC ENSG00000184465 45 0 0 37 15 28.8462 TBP 0 genome.wustl.edu 37 6 170871061 170871061 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 170871061 170871061 G A SNP TBP ENST00000230354 human ensembl 74_37 +1 known silent c.237 p.Q79 0.988 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 43 0 0 58 12 17.1429 ID4 0 genome.wustl.edu 37 6 19838301 19838301 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 19838301 19838301 C T SNP ID4 ENST00000378700 human ensembl 74_37 +1 known silent c.316 p.L106 1.000 superfamily_bHLH_dom,smart_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ID4 HGNC ENSG00000172201 23 0 0 20 15 42.8571 E2F3 0 genome.wustl.edu 37 6 20402537 20402537 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 20402537 20402537 T C SNP E2F3 ENST00000346618 human ensembl 74_37 +1 known missense c.74 p.V25A 0.999 NULL pfam_E2F_TDP - no_errors E2F3 HGNC ENSG00000112242 32 0 0 35 17 32.6923 E2F3 0 genome.wustl.edu 37 6 20402541 20402541 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 20402541 20402541 C T SNP E2F3 ENST00000346618 human ensembl 74_37 +1 known silent c.78 p.A26 1.000 NULL pfam_E2F_TDP - no_errors E2F3 HGNC ENSG00000112242 33 0 0 36 21 36.8421 E2F3 0 genome.wustl.edu 37 6 20402547 20402547 + Silent SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 20402547 20402547 C A SNP E2F3 ENST00000346618 human ensembl 74_37 +1 known silent c.84 p.A28 1.000 NULL pfam_E2F_TDP - no_errors E2F3 HGNC ENSG00000112242 33 0 0 52 12 18.75 BTN2A2 0 genome.wustl.edu 37 6 26384083 26384083 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 26384083 26384083 C T SNP BTN2A2 ENST00000356709 human ensembl 74_37 +1 known missense c.34 p.P12S 0.016 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN2A2 HGNC ENSG00000124508 123 0 0 77 54 41.2214 OR2B6 0 genome.wustl.edu 37 6 27925524 27925524 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 27925524 27925524 G A SNP OR2B6 ENST00000244623 human ensembl 74_37 +1 known missense c.506 p.C169Y 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2B6 HGNC ENSG00000124657 159 0 0 102 35 25.5474 ZKSCAN4 0 genome.wustl.edu 37 6 28213039 28213039 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 28213039 28213039 C T SNP ZKSCAN4 ENST00000377294 human ensembl 74_37 -1 known missense c.1493 p.R498Q 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN4 HGNC ENSG00000187626 100 0 0 54 27 33.3333 SCAND3 0 genome.wustl.edu 37 6 28540480 28540480 + Silent SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 28540480 28540480 T C SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known silent c.3186 p.L1062 1.000 superfamily_RNaseH-like_dom pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 120 0 0 54 31 36.4706 OR2H2 0 genome.wustl.edu 37 6 29556085 29556085 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 29556085 29556085 G A SNP OR2H2 ENST00000383640 human ensembl 74_37 +1 known missense c.364 p.V122M 0.995 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2H2 HGNC ENSG00000204657 149 0 0 89 51 36.4286 ZNRD1 0 genome.wustl.edu 37 6 30030011 30030011 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 30030011 30030011 G A SNP ZNRD1 ENST00000332435 human ensembl 74_37 +1 known missense c.257 p.R86H 1.000 pfam_Znf_TFIIS,smart_Znf_TFIIS,pfscan_Znf_TFIIS pfam_Znf_TFIIS,smart_Znf_TFIIS,pfscan_Znf_TFIIS - no_errors ZNRD1 HGNC ENSG00000066379 68 0 0 41 34 45.3333 TRIM26 0 genome.wustl.edu 37 6 30153692 30153692 + Nonsense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 30153692 30153692 C T SNP TRIM26 ENST00000437089 human ensembl 74_37 -1 known nonsense c.1581 p.W527* 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,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 - no_errors TRIM26 HGNC ENSG00000234127 52 0 0 41 4 8.88889 HLA-E 0 genome.wustl.edu 37 6 30457758 30457758 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 30457758 30457758 A G SNP HLA-E ENST00000376630 human ensembl 74_37 +1 known missense c.320 p.N107S 0.989 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-E HGNC ENSG00000204592 107 0 0 80 54 40.2985 VARS 0 genome.wustl.edu 37 6 31746983 31746983 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 31746983 31746983 C T SNP VARS ENST00000375663 human ensembl 74_37 -1 known missense c.3487 p.V1163M 0.915 superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS HGNC ENSG00000204394 17 0 0 20 2 9.09091 HSPA1A 0 genome.wustl.edu 37 6 31785362 31785362 + Missense_Mutation SNP T T G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 31785362 31785362 T G SNP HSPA1A ENST00000375651 human ensembl 74_37 +1 known missense c.1829 p.L610R 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1A HGNC ENSG00000204389 167 0 0 137 11 7.43243 HSPA1B 0 genome.wustl.edu 37 6 31797556 31797556 + Missense_Mutation SNP T T G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 31797556 31797556 T G SNP HSPA1B ENST00000375650 human ensembl 74_37 +1 known missense c.1829 p.L610R 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1B HGNC ENSG00000204388 72 0 0 48 32 40 CYP21A2 0 genome.wustl.edu 37 6 32007841 32007841 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 32007841 32007841 G A SNP CYP21A2 ENST00000418967 human ensembl 74_37 +1 known silent c.798 p.A266 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP21A2 HGNC ENSG00000231852 201 0 0 148 95 39.0947 TNXB 0 genome.wustl.edu 37 6 32017099 32017099 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 32017099 32017099 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known silent c.9699 p.Y3233 0.946 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_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 76 0 0 44 25 36.2319 TNXB 0 genome.wustl.edu 37 6 32017224 32017224 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 32017224 32017224 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.9574 p.D3192N 0.987 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_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 128 0 0 76 27 26.2136 RGL2 0 genome.wustl.edu 37 6 33261421 33261421 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 33261421 33261421 G A SNP RGL2 ENST00000497454 human ensembl 74_37 -1 known missense c.1564 p.R522W 0.088 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL2 HGNC ENSG00000237441 104 0 0 61 20 24.6914 ITPR3 0 genome.wustl.edu 37 6 33631649 33631649 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 33631649 33631649 C T SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known silent c.1140 p.F380 0.508 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif 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 64 0 0 51 24 32 ITPR3 0 genome.wustl.edu 37 6 33638232 33638232 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 33638232 33638232 C T SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.2320 p.R774C 1.000 prints_InsP3_rcpt-bd 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 147 0 0 100 54 35.0649 ITPR3 0 genome.wustl.edu 37 6 33641487 33641487 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 33641487 33641487 C T SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known silent c.3048 p.F1016 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,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 107 0 0 78 36 31.5789 GRM4 0 genome.wustl.edu 37 6 33995965 33995965 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 33995965 33995965 G A SNP GRM4 ENST00000374181 human ensembl 74_37 -1 known missense c.2621 p.T874M 0.945 prints_GPCR_3_mtglu_rcpt_4 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B - no_errors GRM4 HGNC ENSG00000124493 73 0 0 45 26 36.6197 FAM50B 0 genome.wustl.edu 37 6 3850440 3850440 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 3850440 3850440 A G SNP FAM50B ENST00000380272 human ensembl 74_37 +1 novel missense c.395 p.D132G 0.000 pfam_XAP5 pfam_XAP5 - no_errors FAM50B HGNC ENSG00000145945 38 0 0 57 4 6.55738 PTCHD4 0 genome.wustl.edu 37 6 47847178 47847178 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 47847178 47847178 C T SNP PTCHD4 ENST00000339488 human ensembl 74_37 -1 known missense c.1402 p.V468I 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC ENSG00000244694 62 0 0 38 18 32.1429 CRISP1 0 genome.wustl.edu 37 6 49806157 49806157 + Missense_Mutation SNP T T G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 49806157 49806157 T G SNP CRISP1 ENST00000335847 human ensembl 74_37 -1 known missense c.615 p.K205N 0.498 pfam_Cysteine_rich_secretory pfam_Cysteine_rich_secretory,pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen - no_errors CRISP1 HGNC ENSG00000124812 100 1 0.990099 68 45 39.823 PKHD1 0 genome.wustl.edu 37 6 51613045 51613045 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 51613045 51613045 C T SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known silent c.9369 p.A3123 0.791 superfamily_Pectin_lyase_fold/virulence pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 342 0 0 232 97 29.4833 TINAG 0 genome.wustl.edu 37 6 54191719 54191719 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 54191719 54191719 G A SNP TINAG ENST00000370864 human ensembl 74_37 +1 known missense c.575 p.S192N 0.983 NULL pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom - no_errors TINAG HGNC ENSG00000137251 57 0 0 34 17 33.3333 HMGCLL1 0 genome.wustl.edu 37 6 55378846 55378846 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 55378846 55378846 C T SNP HMGCLL1 ENST00000398661 human ensembl 74_37 -1 known missense c.632 p.G211E 1.000 pfam_PYR_CT,pfscan_PYR_CT pfam_PYR_CT,pfscan_PYR_CT - no_errors HMGCLL1 HGNC ENSG00000146151 84 0 0 28 10 26.3158 F13A1 0 genome.wustl.edu 37 6 6266819 6266819 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 6266819 6266819 C T SNP F13A1 ENST00000264870 human ensembl 74_37 -1 known silent c.543 p.T181 0.001 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 F13A1 HGNC ENSG00000124491 165 0 0 109 43 28.2895 HUS1B 0 genome.wustl.edu 37 6 656555 656555 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 656555 656555 G A SNP HUS1B ENST00000380907 human ensembl 74_37 -1 known silent c.390 p.H130 0.001 pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1 pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1 - no_errors HUS1B HGNC ENSG00000188996 47 0 0 68 9 11.6883 COL9A1 0 genome.wustl.edu 37 6 71003924 71003924 + Silent SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 71003924 71003924 A G SNP COL9A1 ENST00000357250 human ensembl 74_37 -1 known silent c.642 p.I214 0.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 178 0 0 74 41 35.6522 RREB1 0 genome.wustl.edu 37 6 7229250 7229250 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 7229250 7229250 G A SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known silent c.918 p.L306 0.976 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 46 0 0 29 10 25.641 RREB1 0 genome.wustl.edu 37 6 7248772 7248772 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 7248772 7248772 C T SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known silent c.4800 p.C1600 0.854 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 55 0 0 52 9 14.7541 RIMS1 0 genome.wustl.edu 37 6 72596851 72596851 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 72596851 72596851 G A SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.125 p.R42Q 1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ 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 RIMS1 HGNC ENSG00000079841 28 0 0 22 12 35.2941 COL12A1 0 genome.wustl.edu 37 6 75858174 75858174 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 75858174 75858174 C T SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.4187 p.R1396Q 0.682 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 63 0 0 32 22 40.7407 BMP6 0 genome.wustl.edu 37 6 7862640 7862640 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 7862640 7862640 C T SNP BMP6 ENST00000283147 human ensembl 74_37 +1 known silent c.1113 p.R371 0.857 NULL pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP6 HGNC ENSG00000153162 131 0 0 70 42 37.5 ELOVL4 0 genome.wustl.edu 37 6 80656946 80656946 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 80656946 80656946 C T SNP ELOVL4 ENST00000369816 human ensembl 74_37 -1 known silent c.51 p.T17 1.000 NULL pfam_GNS1_SUR4 - no_errors ELOVL4 HGNC ENSG00000118402 42 0 0 28 19 40.4255 FHL5 0 genome.wustl.edu 37 6 97052726 97052726 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 97052726 97052726 G A SNP FHL5 ENST00000326771 human ensembl 74_37 +1 known missense c.260 p.R87H 0.995 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL5 HGNC ENSG00000112214 115 0 0 84 23 21.4953 MMS22L 0 genome.wustl.edu 37 6 97627291 97627291 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 97627291 97627291 C A SNP MMS22L ENST00000275053 human ensembl 74_37 -1 known missense c.2529 p.E843D 0.848 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MMS22L HGNC ENSG00000146263 111 0 0 41 30 42.2535 SH2B2 0 genome.wustl.edu 37 7 101944461 101944461 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 101944461 101944461 C T SNP SH2B2 ENST00000536178 human ensembl 74_37 +1 known silent c.756 p.A252 0.989 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2,prints_SH2 - no_errors SH2B2 HGNC ENSG00000160999 8 0 0 9 6 40 ORAI2 0 genome.wustl.edu 37 7 102087007 102087007 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 102087007 102087007 G A SNP ORAI2 ENST00000356387 human ensembl 74_37 +1 known silent c.273 p.R91 0.102 pfam_CRAC_channel pfam_CRAC_channel - no_errors ORAI2 HGNC ENSG00000160991 55 0 0 60 41 40.5941 SRPK2 0 genome.wustl.edu 37 7 104783701 104783701 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 104783701 104783701 C T SNP SRPK2 ENST00000393651 human ensembl 74_37 -1 known missense c.890 p.R297H 1.000 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 SRPK2 HGNC ENSG00000135250 117 0 0 45 23 33.8235 PUS7 0 genome.wustl.edu 37 7 105148680 105148680 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 105148680 105148680 C T SNP PUS7 ENST00000356362 human ensembl 74_37 -1 known missense c.280 p.E94K 1.000 pirsf_PsdUridine_synth_TruD_euk pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD - no_errors PUS7 HGNC ENSG00000091127 168 0 0 90 37 29.1339 LAMB1 0 genome.wustl.edu 37 7 107575804 107575804 + RNA SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 107575804 107575804 T C SNP LAMB1 ENST00000491196 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors LAMB1 HGNC ENSG00000091136 127 0 0 57 11 16.1765 LAMB1 0 genome.wustl.edu 37 7 107575808 107575808 + RNA SNP T T G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 107575808 107575808 T G SNP LAMB1 ENST00000491196 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors LAMB1 HGNC ENSG00000091136 115 1 0.862069 49 15 23.4375 LAMB1 0 genome.wustl.edu 37 7 107621183 107621183 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 107621183 107621183 G A SNP LAMB1 ENST00000222399 human ensembl 74_37 -1 known silent c.750 p.S250 0.997 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 78 0 0 46 16 25.8065 DOCK4 0 genome.wustl.edu 37 7 111430583 111430583 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 111430583 111430583 C T SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known missense c.3245 p.R1082Q 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 46 0 0 21 14 40 TES 0 genome.wustl.edu 37 7 115892010 115892010 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 115892010 115892010 G A SNP TES ENST00000358204 human ensembl 74_37 +1 known missense c.899 p.R300Q 1.000 smart_Znf_LIM,pfscan_Znf_LIM pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors TES HGNC ENSG00000135269 68 0 0 49 29 37.1795 RNF148 0 genome.wustl.edu 37 7 122342061 122342061 + Silent SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 122342061 122342061 A G SNP RNF148 ENST00000434824 human ensembl 74_37 -1 known silent c.744 p.D248 1.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF148 HGNC ENSG00000235631 34 0 0 16 20 55.5556 CCDC136 0 genome.wustl.edu 37 7 128445885 128445885 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 128445885 128445885 G A SNP CCDC136 ENST00000297788 human ensembl 74_37 +1 known missense c.1019 p.R340Q 0.993 NULL NULL - no_errors CCDC136 HGNC ENSG00000128596 52 0 0 31 19 38 LRGUK 0 genome.wustl.edu 37 7 133884088 133884088 + Silent SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 133884088 133884088 A G SNP LRGUK ENST00000285928 human ensembl 74_37 +1 known silent c.1662 p.E554 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like - no_errors LRGUK HGNC ENSG00000155530 183 0 0 91 29 24.1667 KIAA1549 0 genome.wustl.edu 37 7 138601707 138601707 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 138601707 138601707 C T SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known missense c.2665 p.G889S 0.001 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 15 0 0 21 6 22.2222 KLRG2 0 genome.wustl.edu 37 7 139168284 139168284 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 139168284 139168284 G A SNP KLRG2 ENST00000340940 human ensembl 74_37 -1 known silent c.105 p.P35 0.019 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRG2 HGNC ENSG00000188883 38 0 0 43 19 30.6452 ZNF783 0 genome.wustl.edu 37 7 148979375 148979375 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 148979375 148979375 G A SNP ZNF783 ENST00000434415 human ensembl 74_37 +1 known missense c.1582 p.A528T 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF783 HGNC ENSG00000204946 16 0 0 19 9 32.1429 ZNF777 0 genome.wustl.edu 37 7 149129302 149129302 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 149129302 149129302 C T SNP ZNF777 ENST00000247930 human ensembl 74_37 -1 known silent c.2061 p.A687 0.976 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF777 HGNC ENSG00000196453 123 0 0 101 53 34.4156 ZNF467 0 genome.wustl.edu 37 7 149463221 149463221 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 149463221 149463221 C T SNP ZNF467 ENST00000302017 human ensembl 74_37 -1 known missense c.370 p.A124T 0.004 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF467 HGNC ENSG00000181444 61 0 0 28 17 37.7778 SSPO 0 genome.wustl.edu 37 7 149512418 149512418 + RNA SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 149512418 149512418 G A SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SSPO HGNC ENSG00000197558 20 0 0 19 9 32.1429 ZNF862 0 genome.wustl.edu 37 7 149559477 149559477 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 149559477 149559477 G A SNP ZNF862 ENST00000223210 human ensembl 74_37 +1 known silent c.3228 p.T1076 0.758 NULL pfam_Krueppel-associated_box,pfam_HATC_dom_C,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box - no_errors ZNF862 HGNC ENSG00000106479 33 0 0 23 12 34.2857 ABCB8 0 genome.wustl.edu 37 7 150739088 150739088 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 150739088 150739088 G A SNP ABCB8 ENST00000297504 human ensembl 74_37 +1 known missense c.1709 p.R570H 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like 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 - no_errors ABCB8 HGNC ENSG00000197150 99 0 0 73 23 23.9583 TMUB1 0 genome.wustl.edu 37 7 150778902 150778902 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 150778902 150778902 G T SNP TMUB1 ENST00000297533 human ensembl 74_37 -1 known missense c.475 p.L159I 1.000 pfam_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors TMUB1 HGNC ENSG00000164897 13 0 0 10 2 16.6667 NUB1 0 genome.wustl.edu 37 7 151057316 151057316 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 151057316 151057316 C T SNP NUB1 ENST00000568733 human ensembl 74_37 +1 known silent c.855 p.D285 0.348 NULL pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors NUB1 HGNC ENSG00000013374 26 0 0 22 6 21.4286 INTS1 0 genome.wustl.edu 37 7 1510813 1510813 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 1510813 1510813 G A SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known silent c.6915 p.N2305 0.969 superfamily_ARM-type_fold pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 12 0 0 7 4 36.3636 KMT2C 0 genome.wustl.edu 37 7 151874710 151874710 + Nonsense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 151874710 151874710 G A SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known nonsense c.7828 p.R2610* 0.054 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_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 156 0 0 84 40 32.2581 INTS1 0 genome.wustl.edu 37 7 1535864 1535864 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 1535864 1535864 C T SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known missense c.2023 p.V675M 0.999 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 76 0 0 59 21 26.25 FAM20C 0 genome.wustl.edu 37 7 195605 195605 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 195605 195605 C T SNP FAM20C ENST00000313766 human ensembl 74_37 +1 known silent c.657 p.A219 0.000 NULL pfam_DUF1193 - no_errors FAM20C HGNC ENSG00000177706 69 0 0 41 22 34.9206 ABCB5 0 genome.wustl.edu 37 7 20689716 20689716 + Silent SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 20689716 20689716 G T SNP ABCB5 ENST00000404938 human ensembl 74_37 +1 putative silent c.1278 p.G426 0.949 superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like 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 58 0 0 33 16 32.6531 HOXA5 0 genome.wustl.edu 37 7 27181657 27181657 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 27181657 27181657 G A SNP HOXA5 ENST00000222726 human ensembl 74_37 -1 known missense c.610 p.R204C 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_antennapedia pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA5 HGNC ENSG00000106004 86 0 0 52 36 40.9091 CHN2 0 genome.wustl.edu 37 7 29438071 29438071 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 29438071 29438071 C T SNP CHN2 ENST00000539406 human ensembl 74_37 +1 known missense c.484 p.R162W 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd - no_errors CHN2 HGNC ENSG00000106069 154 0 0 41 29 41.4286 INMT 0 genome.wustl.edu 37 7 30795440 30795440 + Silent SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 30795440 30795440 T C SNP INMT ENST00000013222 human ensembl 74_37 +1 known silent c.765 p.I255 0.193 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors INMT HGNC ENSG00000241644 122 0 0 83 54 39.4161 NEUROD6 0 genome.wustl.edu 37 7 31377947 31377947 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 31377947 31377947 G A SNP NEUROD6 ENST00000297142 human ensembl 74_37 -1 known silent c.936 p.S312 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 NEUROD6 HGNC ENSG00000164600 82 0 0 48 24 33.3333 CCDC129 0 genome.wustl.edu 37 7 31682655 31682655 + Silent SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 31682655 31682655 A G SNP CCDC129 ENST00000451887 human ensembl 74_37 +1 known silent c.1749 p.T583 0.000 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 220 1 0.452489 224 12 5.08475 KBTBD2 0 genome.wustl.edu 37 7 32909836 32909836 + Missense_Mutation SNP T T G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 32909836 32909836 T G SNP KBTBD2 ENST00000304056 human ensembl 74_37 -1 known missense c.993 p.K331N 1.000 smart_Kelch_1,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 116 0 0 49 42 46.1538 NPSR1 0 genome.wustl.edu 37 7 34917755 34917755 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 34917755 34917755 G T SNP NPSR1 ENST00000359791 human ensembl 74_37 +1 known missense c.1093 p.G365C 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Vasoprsn_rcpt - no_errors NPSR1 HGNC ENSG00000187258 22 0 0 13 4 23.5294 DPY19L2P1 0 genome.wustl.edu 37 7 35131520 35131520 + RNA SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 35131520 35131520 C T SNP DPY19L2P1 ENST00000436258 human ensembl 74_37 -1 known rna NULL NULL 0.992 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 58 0 0 41 4 8.88889 DPY19L2P1 0 genome.wustl.edu 37 7 35131548 35131548 + RNA SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 35131548 35131548 G A SNP DPY19L2P1 ENST00000436258 human ensembl 74_37 -1 known rna NULL NULL 0.985 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 46 0 0 38 4 9.52381 CDK13 0 genome.wustl.edu 37 7 40118358 40118358 + Silent SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 40118358 40118358 T C SNP CDK13 ENST00000181839 human ensembl 74_37 +1 known silent c.2937 p.L979 1.000 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_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 CDK13 HGNC ENSG00000065883 71 0 0 42 19 31.1475 LINC00957 0 genome.wustl.edu 37 7 44079224 44079224 + RNA SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 44079224 44079224 G A SNP LINC00957 ENST00000441052 human ensembl 74_37 +1 known rna NULL NULL 0.992 - - - no_errors LINC00957 HGNC ENSG00000235314 11 0 0 8 7 46.6667 NPC1L1 0 genome.wustl.edu 37 7 44556854 44556854 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 44556854 44556854 A G SNP NPC1L1 ENST00000289547 human ensembl 74_37 -1 known missense c.3320 p.L1107P 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 159 0 0 106 63 37.2781 NPC1L1 0 genome.wustl.edu 37 7 44573082 44573082 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 44573082 44573082 A G SNP NPC1L1 ENST00000289547 human ensembl 74_37 -1 known missense c.2357 p.L786P 1.000 pfam_Patched,pfscan_SSD pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 87 0 0 48 32 40 TNRC18 0 genome.wustl.edu 37 7 5427872 5427872 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 5427872 5427872 G A SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.1583 p.A528V 0.996 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 25 0 0 20 9 31.0345 VSTM2A 0 genome.wustl.edu 37 7 54617746 54617746 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 54617746 54617746 C T SNP VSTM2A ENST00000402026 human ensembl 74_37 +1 known missense c.514 p.R172C 0.957 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM2A HGNC ENSG00000170419 17 0 0 24 14 36.8421 VOPP1 0 genome.wustl.edu 37 7 55540588 55540588 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 55540588 55540588 G A SNP VOPP1 ENST00000285279 human ensembl 74_37 -1 known missense c.479 p.T160M 0.991 NULL NULL - no_errors VOPP1 HGNC ENSG00000154978 12 0 0 7 7 50 RNF216 0 genome.wustl.edu 37 7 5662686 5662686 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 5662686 5662686 G A SNP RNF216 ENST00000389902 human ensembl 74_37 -1 known silent c.2577 p.F859 0.632 NULL smart_Znf_C6HC - no_errors RNF216 HGNC ENSG00000011275 134 0 0 88 28 24.1379 ZNF716 0 genome.wustl.edu 37 7 57510008 57510008 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 57510008 57510008 C T SNP ZNF716 ENST00000420713 human ensembl 74_37 +1 known missense c.14 p.P5L 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 ZNF716 HGNC ENSG00000182111 41 0 0 45 18 28.5714 ZNF733P 0 genome.wustl.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 62752443 62752443 G C SNP ZNF733P ENST00000331425 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF733P HGNC ENSG00000185037 24 0 0 19 3 13.6364 ZNF727 0 genome.wustl.edu 37 7 63529392 63529392 + Missense_Mutation SNP T T G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 63529392 63529392 T G SNP ZNF727 ENST00000550760 human ensembl 74_37 +1 known missense c.127 p.L43V 0.417 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 ZNF727 HGNC ENSG00000257482 13 0 0 14 3 17.6471 DAGLB 0 genome.wustl.edu 37 7 6449906 6449906 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 6449906 6449906 G T SNP DAGLB ENST00000297056 human ensembl 74_37 -1 known missense c.1675 p.L559I 1.000 NULL pfam_Lipase_3 - no_errors DAGLB HGNC ENSG00000164535 32 0 0 24 7 22.5806 COL28A1 0 genome.wustl.edu 37 7 7493103 7493103 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 7493103 7493103 C A SNP COL28A1 ENST00000399429 human ensembl 74_37 -1 known missense c.1408 p.G470W 1.000 NULL pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m - no_errors COL28A1 HGNC ENSG00000215018 153 0 0 62 23 27.0588 PCLO 0 genome.wustl.edu 37 7 82430834 82430834 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 82430834 82430834 C T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.15007 p.A5003T 1.000 superfamily_C2_dom 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 49 0 0 29 10 25.641 AKAP9 0 genome.wustl.edu 37 7 91726523 91726523 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 91726523 91726523 G A SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.10262 p.R3421H 0.932 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 57 0 0 34 18 34.6154 SAMD9 0 genome.wustl.edu 37 7 92732145 92732145 + Missense_Mutation SNP G G C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 92732145 92732145 G C SNP SAMD9 ENST00000379958 human ensembl 74_37 -1 known missense c.3266 p.A1089G 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 91 0 0 57 3 5 TFPI2 0 genome.wustl.edu 37 7 93518426 93518426 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 93518426 93518426 G A SNP TFPI2 ENST00000222543 human ensembl 74_37 -1 known silent c.381 p.S127 0.003 pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors TFPI2 HGNC ENSG00000105825 126 0 0 58 35 37.6344 ASB4 0 genome.wustl.edu 37 7 95157219 95157219 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 95157219 95157219 C T SNP ASB4 ENST00000325885 human ensembl 74_37 +1 known silent c.582 p.Y194 0.997 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 49 0 0 28 14 33.3333 PDK4 0 genome.wustl.edu 37 7 95214973 95214973 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 95214973 95214973 C T SNP PDK4 ENST00000005178 human ensembl 74_37 -1 known missense c.1216 p.A406T 0.846 NULL 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 - no_errors PDK4 HGNC ENSG00000004799 108 0 0 53 4 7.01754 DLX6 0 genome.wustl.edu 37 7 96639257 96639257 + Silent SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 96639257 96639257 G T SNP DLX6 ENST00000518156 human ensembl 74_37 +1 known silent c.780 p.S260 0.002 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX6 HGNC ENSG00000006377 23 0 0 24 16 40 ARPC1B 0 genome.wustl.edu 37 7 98984171 98984171 + RNA SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 98984171 98984171 G A SNP ARPC1B ENST00000493403 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors ARPC1B HGNC ENSG00000130429 21 0 0 20 8 28.5714 MCM7 0 genome.wustl.edu 37 7 99697025 99697025 + Missense_Mutation SNP A A C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 99697025 99697025 A C SNP MCM7 ENST00000303887 human ensembl 74_37 -1 known missense c.278 p.V93G 0.993 superfamily_NA-bd_OB-fold 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,prints_MCM7,prints_MCM_4 - no_errors MCM7 HGNC ENSG00000166508 54 0 0 77 15 16.3043 PVRIG 0 genome.wustl.edu 37 7 99818409 99818409 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 99818409 99818409 G A SNP PVRIG ENST00000317271 human ensembl 74_37 +1 known missense c.623 p.R208H 0.000 NULL NULL - no_errors PVRIG HGNC ENSG00000213413 73 0 0 47 26 35.6164 GATS 0 genome.wustl.edu 37 7 99821311 99821311 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 99821311 99821311 C T SNP GATS ENST00000436886 human ensembl 74_37 -1 known missense c.422 p.R141Q 1.000 NULL NULL - no_errors GATS HGNC ENSG00000160844 178 0 0 180 71 28.2869 FBXO43 0 genome.wustl.edu 37 8 101146558 101146558 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 101146558 101146558 C T SNP FBXO43 ENST00000428847 human ensembl 74_37 -1 known missense c.1709 p.R570Q 1.000 NULL pfam_Znf_C6HC,superfamily_F-box_dom,smart_Znf_C6HC - no_errors FBXO43 HGNC ENSG00000156509 116 0 0 97 40 29.1971 RNF19A 0 genome.wustl.edu 37 8 101271373 101271373 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 101271373 101271373 C T SNP RNF19A ENST00000341084 human ensembl 74_37 -1 known missense c.1928 p.R643Q 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19A HGNC ENSG00000034677 129 0 0 132 54 29.0323 NACAP1 0 genome.wustl.edu 37 8 102381208 102381208 + RNA SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 102381208 102381208 G A SNP NACAP1 ENST00000419462 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NACAP1 HGNC ENSG00000228224 58 0 0 60 24 28.5714 UBR5 0 genome.wustl.edu 37 8 103277490 103277490 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 103277490 103277490 C T SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known missense c.7439 p.R2480H 1.000 superfamily_HECT,smart_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 40 0 0 33 11 25 PRSS55 0 genome.wustl.edu 37 8 10388924 10388924 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 10388924 10388924 A G SNP PRSS55 ENST00000328655 human ensembl 74_37 +1 known missense c.467 p.D156G 0.998 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS55 HGNC ENSG00000184647 225 0 0 196 55 21.9124 LRP12 0 genome.wustl.edu 37 8 105502978 105502978 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 105502978 105502978 C T SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.2446 p.A816T 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,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 103 0 0 104 7 6.30631 C8orf74 0 genome.wustl.edu 37 8 10557880 10557880 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 10557880 10557880 C A SNP C8orf74 ENST00000304519 human ensembl 74_37 +1 known missense c.784 p.P262T 0.069 NULL NULL - no_errors C8orf74 HGNC ENSG00000171060 51 0 0 58 21 26.5823 TRHR 0 genome.wustl.edu 37 8 110099964 110099964 + Missense_Mutation SNP T T A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 110099964 110099964 T A SNP TRHR ENST00000311762 human ensembl 74_37 +1 known missense c.223 p.L75M 0.930 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_TRH_rcpt_1,prints_GPCR_Rhodpsn - no_errors TRHR HGNC ENSG00000174417 103 0 0 130 42 24.4186 LOC101929290 0 genome.wustl.edu 37 8 11177395 11177395 + RNA SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 11177395 11177395 C T SNP LOC101929290 ENST00000498997 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AF131216.6 Clone_based_vega_gene ENSG00000246477 23 0 0 38 3 7.31707 CSMD3 0 genome.wustl.edu 37 8 113318256 113318256 + Missense_Mutation SNP T T G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 113318256 113318256 T G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.8051 p.N2684T 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP 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 168 0 0 102 38 27.1429 TRPS1 0 genome.wustl.edu 37 8 116616339 116616339 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 116616339 116616339 C T SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known silent c.1857 p.A619 0.279 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 80 0 0 91 26 22.2222 EXT1 0 genome.wustl.edu 37 8 118819539 118819539 + Silent SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 118819539 118819539 A G SNP EXT1 ENST00000378204 human ensembl 74_37 -1 known silent c.1800 p.D600 1.000 pfam_HexNAc_Trfase_a pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT1 HGNC ENSG00000182197 75 0 0 79 22 21.7822 MIR30D 0 genome.wustl.edu 37 8 135817137 135817137 + RNA SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 135817137 135817137 C T SNP MIR30D ENST00000362283 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR30D HGNC ENSG00000199153 127 0 0 108 40 27.027 COL22A1 0 genome.wustl.edu 37 8 139890218 139890218 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 139890218 139890218 C T SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known missense c.433 p.V145M 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 15 0 0 25 11 30.5556 KCNK9 0 genome.wustl.edu 37 8 140631239 140631239 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 140631239 140631239 G A SNP KCNK9 ENST00000303015 human ensembl 74_37 -1 known silent c.387 p.G129 0.999 pfam_2pore_dom_K_chnl_dom,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_KCNK9,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC ENSG00000169427 43 0 0 46 10 17.8571 DENND3 0 genome.wustl.edu 37 8 142178354 142178354 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 142178354 142178354 C T SNP DENND3 ENST00000262585 human ensembl 74_37 +1 known missense c.1765 p.R589W 0.000 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 144 0 0 148 35 19.1257 SLC45A4 0 genome.wustl.edu 37 8 142228929 142228929 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 142228929 142228929 G A SNP SLC45A4 ENST00000517878 human ensembl 74_37 -1 known silent c.810 p.G270 0.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 154 0 0 159 58 26.7281 PTP4A3 0 genome.wustl.edu 37 8 142435181 142435181 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 142435181 142435181 C T SNP PTP4A3 ENST00000329397 human ensembl 74_37 +1 known missense c.139 p.R47C 0.846 pfam_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors PTP4A3 HGNC ENSG00000184489 49 0 0 73 17 18.8889 PTP4A3 0 genome.wustl.edu 37 8 142441098 142441098 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 142441098 142441098 G A SNP PTP4A3 ENST00000329397 human ensembl 74_37 +1 known missense c.476 p.R159Q 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors PTP4A3 HGNC ENSG00000184489 102 0 0 93 34 26.7717 BAI1 0 genome.wustl.edu 37 8 143624776 143624776 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 143624776 143624776 C T SNP BAI1 ENST00000323289 human ensembl 74_37 +1 known missense c.4426 p.R1476W 0.999 prints_GPCR_2_brain-spec_angio_inhib pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 46 0 0 45 12 21.0526 LY6E 0 genome.wustl.edu 37 8 144103050 144103050 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 144103050 144103050 C T SNP LY6E ENST00000292494 human ensembl 74_37 +1 known silent c.240 p.G80 0.000 pfam_LY6_UPAR,smart_LY6_UPA_recep-like pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LY6E HGNC ENSG00000160932 173 0 0 153 48 23.8806 ZNF707 0 genome.wustl.edu 37 8 144776320 144776320 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 144776320 144776320 C T SNP ZNF707 ENST00000358656 human ensembl 74_37 +1 known missense c.736 p.R246C 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 ZNF707 HGNC ENSG00000181135 15 0 0 28 12 30 FAM83H 0 genome.wustl.edu 37 8 144811446 144811446 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 144811446 144811446 G A SNP FAM83H ENST00000388913 human ensembl 74_37 -1 known silent c.495 p.S165 0.000 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83H HGNC ENSG00000180921 73 0 0 89 34 27.6423 PLEC 0 genome.wustl.edu 37 8 144992352 144992352 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 144992352 144992352 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.12048 p.D4016 1.000 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 32 0 0 28 14 33.3333 PARP10 0 genome.wustl.edu 37 8 145051961 145051961 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 145051961 145051961 G A SNP PARP10 ENST00000313028 human ensembl 74_37 -1 known silent c.2769 p.R923 0.296 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 PARP10 HGNC ENSG00000178685 17 0 0 15 4 21.0526 CYC1 0 genome.wustl.edu 37 8 145152141 145152141 + Missense_Mutation SNP A A T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 145152141 145152141 A T SNP CYC1 ENST00000318911 human ensembl 74_37 +1 known missense c.880 p.M294L 0.980 pfam_Cyt_c1,superfamily_Cyt_c1_TM_anchor_C,prints_Cyt_c1 pfam_Cyt_c1,superfamily_Cyt_c-like_dom,superfamily_Cyt_c1_TM_anchor_C,prints_Cyt_c1 - no_errors CYC1 HGNC ENSG00000179091 46 0 0 68 4 5.55556 DGAT1 0 genome.wustl.edu 37 8 145541660 145541660 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 145541660 145541660 C T SNP DGAT1 ENST00000332324 human ensembl 74_37 -1 known missense c.772 p.A258T 1.000 pfam_MBOAT_fam pfam_MBOAT_fam,superfamily_PEP-util_enz_mobile_dom - no_errors DGAT1 HGNC ENSG00000185000 85 0 0 67 13 16.25 TONSL 0 genome.wustl.edu 37 8 145666250 145666250 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 145666250 145666250 G A SNP TONSL ENST00000409379 human ensembl 74_37 -1 known missense c.1015 p.R339C 0.002 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 50 0 0 75 34 31.1927 RECQL4 0 genome.wustl.edu 37 8 145737873 145737873 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 145737873 145737873 T C SNP RECQL4 ENST00000428558 human ensembl 74_37 -1 known missense c.2957 p.E986G 1.000 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 45 0 0 58 19 24.6753 ZNF250 0 genome.wustl.edu 37 8 146107413 146107413 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 146107413 146107413 G A SNP ZNF250 ENST00000292579 human ensembl 74_37 -1 known silent c.1170 p.T390 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF250 HGNC ENSG00000196150 54 0 0 81 25 23.5849 MICU3 0 genome.wustl.edu 37 8 16884801 16884801 + Nonsense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 16884801 16884801 C T SNP MICU3 ENST00000318063 human ensembl 74_37 +1 known nonsense c.13 p.R5* 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU3 HGNC ENSG00000155970 50 0 0 66 11 14.2857 MICU3 0 genome.wustl.edu 37 8 16884877 16884877 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 16884877 16884877 G A SNP MICU3 ENST00000318063 human ensembl 74_37 +1 known missense c.89 p.R30Q 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU3 HGNC ENSG00000155970 27 0 0 42 6 12.5 ASAH1 0 genome.wustl.edu 37 8 17919227 17919227 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 17919227 17919227 T C SNP ASAH1 ENST00000381733 human ensembl 74_37 -1 known missense c.719 p.N240S 1.000 pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like - no_errors ASAH1 HGNC ENSG00000104763 9 0 0 13 5 27.7778 ARHGEF10 0 genome.wustl.edu 37 8 1857614 1857614 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 1857614 1857614 C T SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known silent c.2196 p.A732 0.017 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 60 0 0 88 25 22.1239 SORBS3 0 genome.wustl.edu 37 8 22428685 22428685 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 22428685 22428685 G A SNP SORBS3 ENST00000240123 human ensembl 74_37 +1 known missense c.1694 p.R565H 0.263 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,prints_p67phox,prints_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS3 HGNC ENSG00000120896 54 0 0 105 7 6.25 PDLIM2 0 genome.wustl.edu 37 8 22438965 22438965 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 22438965 22438965 G A SNP PDLIM2 ENST00000308354 human ensembl 74_37 +1 known missense c.917 p.S306N 0.107 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM2 HGNC ENSG00000120913 33 0 0 15 8 34.7826 EGR3 0 genome.wustl.edu 37 8 22548299 22548299 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 22548299 22548299 C T SNP EGR3 ENST00000317216 human ensembl 74_37 -1 known missense c.851 p.R284H 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR3 HGNC ENSG00000179388 94 0 0 107 33 23.5714 SDAD1P1 0 genome.wustl.edu 37 8 26237200 26237200 + RNA SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 26237200 26237200 G A SNP SDAD1P1 ENST00000519902 human ensembl 74_37 -1 known rna NULL NULL 0.344 - - - no_errors SDAD1P1 HGNC ENSG00000228451 56 0 0 53 23 30.2632 HMBOX1 0 genome.wustl.edu 37 8 28902933 28902933 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 28902933 28902933 G A SNP HMBOX1 ENST00000444075 human ensembl 74_37 +1 known missense c.907 p.A303T 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HMBOX1 HGNC ENSG00000147421 110 0 0 148 45 23.3161 WRN 0 genome.wustl.edu 37 8 30949415 30949415 + Splice_Site SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 30949415 30949415 G A SNP WRN ENST00000298139 human ensembl 74_37 +1 known splice_site c.1898+1 e15+1 1.000 - - - no_errors WRN HGNC ENSG00000165392 45 0 0 43 16 27.1186 WRN 0 genome.wustl.edu 37 8 30969237 30969237 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 30969237 30969237 G A SNP WRN ENST00000298139 human ensembl 74_37 +1 known missense c.2195 p.R732Q 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,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 WRN HGNC ENSG00000165392 61 0 0 43 22 33.8462 TTI2 0 genome.wustl.edu 37 8 33367395 33367395 + Nonsense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 33367395 33367395 G A SNP TTI2 ENST00000360742 human ensembl 74_37 -1 known nonsense c.703 p.Q235* 1.000 pfam_DUF2454 pfam_DUF2454,superfamily_ARM-type_fold - no_errors TTI2 HGNC ENSG00000129696 71 0 0 53 24 31.1688 ADAM9 0 genome.wustl.edu 37 8 38912090 38912090 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 38912090 38912090 C T SNP ADAM9 ENST00000487273 human ensembl 74_37 +1 known missense c.1393 p.R465W 0.002 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM9 HGNC ENSG00000168615 89 0 0 56 18 24.3243 ANK1 0 genome.wustl.edu 37 8 41581130 41581130 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 41581130 41581130 T C SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.733 p.I245V 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_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 ANK1 HGNC ENSG00000029534 93 0 0 97 38 28.1481 ANK1 0 genome.wustl.edu 37 8 41583342 41583342 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 41583342 41583342 G A SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known silent c.549 p.N183 0.772 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom 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 ANK1 HGNC ENSG00000029534 37 0 0 27 9 25 KAT6A 0 genome.wustl.edu 37 8 41790659 41790659 + Silent SNP T T G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 41790659 41790659 T G SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known silent c.5079 p.P1693 0.229 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 26 0 0 19 16 45.7143 VDAC3 0 genome.wustl.edu 37 8 42262421 42262421 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 42262421 42262421 T C SNP VDAC3 ENST00000392935 human ensembl 74_37 +1 known missense c.742 p.Y248H 1.000 pfam_Porin_Euk/Tom40,prints_Porin_Euk pfam_Porin_Euk/Tom40,prints_Porin_Euk - no_errors VDAC3 HGNC ENSG00000078668 59 0 0 30 10 25 PXDNL 0 genome.wustl.edu 37 8 52321537 52321537 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 52321537 52321537 C T SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.2647 p.A883T 0.165 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 PXDNL HGNC ENSG00000147485 71 0 0 63 21 25 ST18 0 genome.wustl.edu 37 8 53077775 53077775 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 53077775 53077775 C T SNP ST18 ENST00000276480 human ensembl 74_37 -1 known missense c.1215 p.M405I 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 185 0 0 135 40 22.8571 OPRK1 0 genome.wustl.edu 37 8 54163462 54163462 + Missense_Mutation SNP C C G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 54163462 54163462 C G SNP OPRK1 ENST00000265572 human ensembl 74_37 -1 known missense c.136 p.D46H 0.027 prints_Kappa_opi_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Kappa_opi_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OPRK1 HGNC ENSG00000082556 31 0 0 42 12 22.2222 RGS20 0 genome.wustl.edu 37 8 54852220 54852220 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 54852220 54852220 G A SNP RGS20 ENST00000297313 human ensembl 74_37 +1 known missense c.595 p.G199R 0.211 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS20 HGNC ENSG00000147509 12 0 0 16 6 27.2727 XKR4 0 genome.wustl.edu 37 8 56015092 56015092 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 56015092 56015092 G T SNP XKR4 ENST00000327381 human ensembl 74_37 +1 known missense c.44 p.S15I 1.000 NULL pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 47 0 0 62 18 22.5 PLAG1 0 genome.wustl.edu 37 8 57079206 57079206 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 57079206 57079206 C T SNP PLAG1 ENST00000316981 human ensembl 74_37 -1 known missense c.1099 p.V367M 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAG1 HGNC ENSG00000181690 159 0 0 137 51 27.1277 CA8 0 genome.wustl.edu 37 8 61137128 61137128 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 61137128 61137128 A G SNP CA8 ENST00000317995 human ensembl 74_37 -1 known missense c.593 p.I198T 1.000 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 CA8 HGNC ENSG00000178538 114 0 0 85 27 24.1071 VCPIP1 0 genome.wustl.edu 37 8 67577032 67577032 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 67577032 67577032 G A SNP VCPIP1 ENST00000310421 human ensembl 74_37 -1 known missense c.2162 p.T721M 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 94 0 0 83 24 22.4299 JPH1 0 genome.wustl.edu 37 8 75227597 75227597 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 75227597 75227597 C T SNP JPH1 ENST00000342232 human ensembl 74_37 -1 known missense c.638 p.R213Q 1.000 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH1 HGNC ENSG00000104369 145 0 0 167 50 23.0415 ZFHX4 0 genome.wustl.edu 37 8 77775852 77775852 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 77775852 77775852 C A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.9902 p.P3301H 0.995 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 41 0 0 42 22 34.375 PEX2 0 genome.wustl.edu 37 8 77895873 77895873 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 77895873 77895873 T C SNP PEX2 ENST00000357039 human ensembl 74_37 -1 known missense c.542 p.Q181R 1.000 pfam_Pex_N pfam_Pex_N,smart_Znf_RING,pfscan_Znf_RING - no_errors PEX2 HGNC ENSG00000164751 120 0 0 83 32 27.8261 ZNF704 0 genome.wustl.edu 37 8 81605279 81605279 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 81605279 81605279 C T SNP ZNF704 ENST00000327835 human ensembl 74_37 -1 known silent c.285 p.S95 0.999 NULL pfscan_Znf_C2H2 - no_errors ZNF704 HGNC ENSG00000164684 71 0 0 58 19 24.6753 SGK223 0 genome.wustl.edu 37 8 8235027 8235027 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 8235027 8235027 C T SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known missense c.892 p.A298T 0.000 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 SGK223 Uniprot_gn ENSG00000182319 27 0 0 36 17 32.0755 RALYL 0 genome.wustl.edu 37 8 85799874 85799874 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 85799874 85799874 C T SNP RALYL ENST00000521268 human ensembl 74_37 +1 known silent c.721 p.L241 1.000 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALYL HGNC ENSG00000184672 102 1 0.970874 123 38 23.6025 SLC7A13 0 genome.wustl.edu 37 8 87242019 87242019 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 87242019 87242019 C T SNP SLC7A13 ENST00000297524 human ensembl 74_37 -1 known missense c.488 p.S163N 0.049 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A13 HGNC ENSG00000164893 97 0 0 81 25 23.5849 RMDN1 0 genome.wustl.edu 37 8 87517094 87517094 + RNA SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 87517094 87517094 G A SNP RMDN1 ENST00000518772 human ensembl 74_37 -1 putative rna NULL NULL 0.714 - - - no_errors RMDN1 HGNC ENSG00000176623 40 0 0 56 7 11.1111 CNGB3 0 genome.wustl.edu 37 8 87590929 87590929 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 87590929 87590929 C A SNP CNGB3 ENST00000320005 human ensembl 74_37 -1 known missense c.2091 p.E697D 0.990 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 119 0 0 88 41 31.7829 TMEM64 0 genome.wustl.edu 37 8 91637965 91637965 + Silent SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 91637965 91637965 G T SNP TMEM64 ENST00000458549 human ensembl 74_37 -1 known silent c.1077 p.T359 1.000 NULL pfam_SNARE_assoc - no_errors TMEM64 HGNC ENSG00000180694 45 0 0 32 8 20 SLC26A7 0 genome.wustl.edu 37 8 92307854 92307854 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 92307854 92307854 G A SNP SLC26A7 ENST00000309536 human ensembl 74_37 +1 known missense c.400 p.V134M 0.017 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A7 HGNC ENSG00000147606 91 0 0 94 24 20.339 TSPYL5 0 genome.wustl.edu 37 8 98289974 98289974 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 98289974 98289974 C T SNP TSPYL5 ENST00000322128 human ensembl 74_37 -1 known silent c.99 p.P33 0.000 NULL pfam_NAP_family - no_errors TSPYL5 HGNC ENSG00000180543 13 0 0 14 11 44 TSPYL5 0 genome.wustl.edu 37 8 98290067 98290067 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 98290067 98290067 G A SNP TSPYL5 ENST00000322128 human ensembl 74_37 -1 known silent c.6 p.S2 1.000 NULL pfam_NAP_family - no_errors TSPYL5 HGNC ENSG00000180543 21 0 0 24 6 20 CCDC180 0 genome.wustl.edu 37 9 100124588 100124588 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 100124588 100124588 G A SNP CCDC180 ENST00000375202 human ensembl 74_37 +1 known missense c.3899 p.G1300D 0.000 NULL NULL - no_errors CCDC180 HGNC ENSG00000197816 145 0 0 98 58 37.1795 TDRD7 0 genome.wustl.edu 37 9 100245206 100245206 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 100245206 100245206 C T SNP TDRD7 ENST00000355295 human ensembl 74_37 +1 known missense c.2488 p.R830C 0.991 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD7 HGNC ENSG00000196116 120 0 0 48 38 44.186 TRIM14 0 genome.wustl.edu 37 9 100850119 100850119 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 100850119 100850119 C T SNP TRIM14 ENST00000341469 human ensembl 74_37 -1 known missense c.962 p.R321H 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin - no_errors TRIM14 HGNC ENSG00000106785 9 0 0 13 6 31.5789 GABBR2 0 genome.wustl.edu 37 9 101470716 101470716 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 101470716 101470716 G A SNP GABBR2 ENST00000259455 human ensembl 74_37 -1 known missense c.304 p.R102W 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B2 pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C - no_errors GABBR2 HGNC ENSG00000136928 16 0 0 13 6 31.5789 PPP3R2 0 genome.wustl.edu 37 9 104357038 104357038 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 104357038 104357038 G A SNP PPP3R2 ENST00000374806 human ensembl 74_37 -1 known missense c.175 p.R59W 1.000 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors PPP3R2 HGNC ENSG00000188386 96 0 0 72 15 17.2414 SVEP1 0 genome.wustl.edu 37 9 113341460 113341460 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 113341460 113341460 C T SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.364 p.V122M 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 10 0 0 7 4 36.3636 SLC46A2 0 genome.wustl.edu 37 9 115652385 115652385 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 115652385 115652385 G A SNP SLC46A2 ENST00000374228 human ensembl 74_37 -1 known missense c.577 p.H193Y 0.984 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG - no_errors SLC46A2 HGNC ENSG00000119457 39 0 0 30 20 40 AMBP 0 genome.wustl.edu 37 9 116836367 116836367 + Missense_Mutation SNP T T A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 116836367 116836367 T A SNP AMBP ENST00000265132 human ensembl 74_37 -1 known missense c.403 p.T135S 0.997 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Prot_inh_Kunz-m,pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_A1-microglobln,prints_PstgldnD_synth,prints_Prot_inh_Kunz-m,prints_Lipocalin - no_errors AMBP HGNC ENSG00000106927 97 0 0 77 5 6.09756 PAPPA 0 genome.wustl.edu 37 9 118949583 118949583 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 118949583 118949583 G A SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known missense c.566 p.R189H 1.000 superfamily_ConA-like_lec_gl_sf,smart_LamG-like pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 124 0 0 72 38 34.5455 GSN 0 genome.wustl.edu 37 9 124072991 124072991 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 124072991 124072991 C T SNP GSN ENST00000373818 human ensembl 74_37 +1 known silent c.534 p.H178 1.000 NULL pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors GSN HGNC ENSG00000148180 48 0 0 36 23 38.9831 GSN 0 genome.wustl.edu 37 9 124089585 124089585 + Splice_Site SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 124089585 124089585 G T SNP GSN ENST00000373818 human ensembl 74_37 +1 known splice_site c.1741-1 e13-1 0.996 - - - no_errors GSN HGNC ENSG00000148180 44 0 0 27 9 25 PTGS1 0 genome.wustl.edu 37 9 125140230 125140230 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 125140230 125140230 C T SNP PTGS1 ENST00000362012 human ensembl 74_37 +1 known silent c.147 p.F49 0.449 pfscan_EG-like_dom pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS1 HGNC ENSG00000095303 113 0 0 60 29 32.5843 DENND1A 0 genome.wustl.edu 37 9 126392754 126392754 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 126392754 126392754 A G SNP DENND1A ENST00000394219 human ensembl 74_37 -1 known missense c.524 p.L175P 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1A HGNC ENSG00000119522 13 0 0 6 5 45.4545 OLFML2A 0 genome.wustl.edu 37 9 127566419 127566419 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 127566419 127566419 G T SNP OLFML2A ENST00000373580 human ensembl 74_37 +1 known missense c.966 p.K322N 0.435 NULL pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2A HGNC ENSG00000185585 52 0 0 62 4 6.06061 RPL12 0 genome.wustl.edu 37 9 130211929 130211929 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 130211929 130211929 C T SNP RPL12 ENST00000361436 human ensembl 74_37 -1 known missense c.170 p.R57K 1.000 pfam_Ribosomal_L11_N,superfamily_Ribosomal_L11_N,smart_Ribosomal_L11 pfam_Ribosomal_L11_N,pfam_Ribosomal_L11_C,superfamily_Ribosomal_L11_N,superfamily_Ribosomal_L11_C,smart_Ribosomal_L11 - no_errors RPL12 HGNC ENSG00000197958 56 0 0 23 19 45.2381 C9orf117 0 genome.wustl.edu 37 9 130475026 130475026 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 130475026 130475026 G A SNP C9orf117 ENST00000373295 human ensembl 74_37 +1 known silent c.1176 p.T392 0.000 NULL NULL - no_errors C9orf117 HGNC ENSG00000160401 95 0 0 80 35 30.4348 NAIF1 0 genome.wustl.edu 37 9 130829272 130829272 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 130829272 130829272 C T SNP NAIF1 ENST00000373078 human ensembl 74_37 -1 known missense c.109 p.A37T 1.000 NULL NULL - no_errors NAIF1 HGNC ENSG00000171169 188 0 0 137 69 33.4951 PTGES2 0 genome.wustl.edu 37 9 130885323 130885323 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 130885323 130885323 C T SNP PTGES2 ENST00000338961 human ensembl 74_37 -1 known silent c.777 p.A259 0.030 superfamily_Glutathione-S-Trfase_C-like pfam_Glutaredoxin,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors PTGES2 HGNC ENSG00000148334 83 0 0 80 32 28.5714 SLC27A4 0 genome.wustl.edu 37 9 131107438 131107438 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 131107438 131107438 G A SNP SLC27A4 ENST00000300456 human ensembl 74_37 +1 known missense c.166 p.G56S 0.381 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A4 HGNC ENSG00000167114 61 0 0 46 18 28.125 SPTAN1 0 genome.wustl.edu 37 9 131392621 131392621 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 131392621 131392621 G A SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known silent c.6729 p.S2243 0.152 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 131 0 0 84 45 34.8837 DOLK 0 genome.wustl.edu 37 9 131708898 131708898 + Missense_Mutation SNP C C G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 131708898 131708898 C G SNP DOLK ENST00000372586 human ensembl 74_37 -1 known missense c.685 p.V229L 1.000 NULL NULL - no_errors DOLK HGNC ENSG00000175283 163 0 0 117 56 32.3699 C9orf50 0 genome.wustl.edu 37 9 132382797 132382797 + Silent SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 132382797 132382797 A G SNP C9orf50 ENST00000372478 human ensembl 74_37 -1 known silent c.57 p.P19 0.001 NULL NULL - no_errors C9orf50 HGNC ENSG00000179058 17 0 0 16 7 30.4348 NUP214 0 genome.wustl.edu 37 9 134027125 134027125 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 134027125 134027125 G A SNP NUP214 ENST00000451030 human ensembl 74_37 +1 known silent c.2283 p.S761 0.996 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 85 0 0 34 19 35.8491 POMT1 0 genome.wustl.edu 37 9 134387493 134387493 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 134387493 134387493 A G SNP POMT1 ENST00000372228 human ensembl 74_37 +1 known missense c.1118 p.N373S 1.000 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif pfam_Glyco_trans_39,pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif - no_errors POMT1 HGNC ENSG00000130714 56 0 0 30 14 31.8182 NTNG2 0 genome.wustl.edu 37 9 135102412 135102412 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 135102412 135102412 C T SNP NTNG2 ENST00000360670 human ensembl 74_37 +1 known missense c.1034 p.T345M 0.997 NULL pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC ENSG00000196358 27 0 0 19 20 51.2821 BARHL1 0 genome.wustl.edu 37 9 135464717 135464717 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 135464717 135464717 G A SNP BARHL1 ENST00000263610 human ensembl 74_37 +1 known silent c.792 p.P264 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors BARHL1 HGNC ENSG00000125492 135 0 0 119 33 21.7105 BRD3 0 genome.wustl.edu 37 9 136913440 136913440 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 136913440 136913440 C T SNP BRD3 ENST00000303407 human ensembl 74_37 -1 known missense c.851 p.R284H 1.000 superfamily_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 73 0 0 27 21 43.75 MRPS2 0 genome.wustl.edu 37 9 138393760 138393760 + Silent SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 138393760 138393760 C A SNP MRPS2 ENST00000241600 human ensembl 74_37 +1 known silent c.240 p.S80 0.824 NULL pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2 - no_errors MRPS2 HGNC ENSG00000122140 160 0 0 62 41 39.8058 UBAC1 0 genome.wustl.edu 37 9 138837033 138837033 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 138837033 138837033 C T SNP UBAC1 ENST00000371756 human ensembl 74_37 -1 known silent c.717 p.T239 0.001 superfamily_UBA-like pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAC1 HGNC ENSG00000130560 70 0 0 46 10 17.8571 QSOX2 0 genome.wustl.edu 37 9 139100961 139100961 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 139100961 139100961 C T SNP QSOX2 ENST00000358701 human ensembl 74_37 -1 known silent c.1710 p.T570 0.000 NULL pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold - no_errors QSOX2 HGNC ENSG00000165661 119 0 0 65 32 32.9897 GPSM1 0 genome.wustl.edu 37 9 139243180 139243180 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 139243180 139243180 C T SNP GPSM1 ENST00000440944 human ensembl 74_37 +1 known silent c.1239 p.S413 0.019 NULL pfam_GoLoco_motif,pfam_TPR_1,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GPSM1 HGNC ENSG00000160360 30 0 0 30 7 18.9189 SEC16A 0 genome.wustl.edu 37 9 139371886 139371886 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 139371886 139371886 G A SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known missense c.182 p.A61V 0.495 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 90 0 0 58 28 32.5581 AGPAT2 0 genome.wustl.edu 37 9 139571949 139571949 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 139571949 139571949 C T SNP AGPAT2 ENST00000371696 human ensembl 74_37 -1 known missense c.242 p.R81Q 0.069 pfam_Plipid/glycerol_acylTrfase,tigrfam_AGP_acyltrans pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,tigrfam_AGP_acyltrans - no_errors AGPAT2 HGNC ENSG00000169692 74 0 0 74 5 6.32911 C9orf173 0 genome.wustl.edu 37 9 140147654 140147654 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 140147654 140147654 G A SNP C9orf173 ENST00000412566 human ensembl 74_37 +1 known missense c.884 p.R295H 0.057 NULL NULL - no_errors C9orf173 HGNC ENSG00000197768 18 0 0 5 10 66.6667 PNPLA7 0 genome.wustl.edu 37 9 140437253 140437253 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 140437253 140437253 C T SNP PNPLA7 ENST00000406427 human ensembl 74_37 -1 known silent c.507 p.R169 1.000 superfamily_cNMP-bd-like 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 PNPLA7 HGNC ENSG00000130653 110 0 0 51 31 37.8049 CACNA1B 0 genome.wustl.edu 37 9 140846799 140846799 + Missense_Mutation SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 140846799 140846799 T C SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known missense c.1040 p.M347T 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 78 0 0 55 30 35.2941 TUBBP5 0 genome.wustl.edu 37 9 141070999 141070999 + RNA SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 141070999 141070999 G A SNP TUBBP5 ENST00000290377 human ensembl 74_37 +1 known rna NULL NULL 0.979 - - - no_errors TUBBP5 HGNC ENSG00000159247 27 0 0 22 17 43.5897 FREM1 0 genome.wustl.edu 37 9 14806679 14806679 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 14806679 14806679 C T SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known missense c.3257 p.S1086N 1.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 14 0 0 7 4 36.3636 CBWD1 0 genome.wustl.edu 37 9 173281 173281 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 173281 173281 G A SNP CBWD1 ENST00000356521 human ensembl 74_37 -1 known silent c.327 p.C109 1.000 pfam_CobW/HypB/UreG_dom,superfamily_P-loop_NTPase pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_P-loop_NTPase,superfamily_Cbl_biosynth_CobW-like_C - no_errors CBWD1 HGNC ENSG00000172785 53 0 0 38 28 42.4242 FOCAD 0 genome.wustl.edu 37 9 20944746 20944746 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 20944746 20944746 C T SNP FOCAD ENST00000338382 human ensembl 74_37 +1 known silent c.3528 p.S1176 0.928 superfamily_ARM-type_fold pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 49 0 0 23 15 39.4737 CDKN2A 0 genome.wustl.edu 37 9 21971132 21971132 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 21971132 21971132 C T SNP CDKN2A ENST00000361570 human ensembl 74_37 -1 known missense c.392 p.R131H 0.000 NULL pfam_Cyclin_kinase-Inhib_2A - no_errors CDKN2A HGNC ENSG00000147889 36 0 0 32 18 36 TEK 0 genome.wustl.edu 37 9 27212860 27212860 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 27212860 27212860 G A SNP TEK ENST00000380036 human ensembl 74_37 +1 known missense c.2842 p.V948M 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 36 0 0 33 20 37.7358 RFX3 0 genome.wustl.edu 37 9 3293099 3293099 + Nonsense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 3293099 3293099 G A SNP RFX3 ENST00000382004 human ensembl 74_37 -1 known nonsense c.709 p.R237* 1.000 pfam_DNA-bd_RFX pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX3 HGNC ENSG00000080298 89 0 0 41 17 29.3103 FANCG 0 genome.wustl.edu 37 9 35074153 35074153 + Silent SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 35074153 35074153 G T SNP FANCG ENST00000378643 human ensembl 74_37 -1 known silent c.1821 p.A607 0.013 NULL superfamily_Sig_transdc_His_kin_Hpt_dom,smart_TPR_repeat - no_errors FANCG HGNC ENSG00000221829 82 0 0 102 7 6.42202 TLN1 0 genome.wustl.edu 37 9 35711592 35711592 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 35711592 35711592 C T SNP TLN1 ENST00000314888 human ensembl 74_37 -1 known silent c.3879 p.P1293 1.000 pfam_Vinculin-bd_dom,superfamily_Vinculin/catenin pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN1 HGNC ENSG00000137076 270 0 0 207 99 32.3529 CCIN 0 genome.wustl.edu 37 9 36170043 36170043 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 36170043 36170043 C T SNP CCIN ENST00000335119 human ensembl 74_37 +1 known missense c.544 p.R182C 1.000 pfam_BACK,smart_BACK pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors CCIN HGNC ENSG00000185972 65 0 0 34 23 40.3509 GLIS3 0 genome.wustl.edu 37 9 4118134 4118134 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 4118134 4118134 C T SNP GLIS3 ENST00000381971 human ensembl 74_37 -1 known silent c.1344 p.P448 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC ENSG00000107249 35 0 0 13 10 43.4783 GLIS3 0 genome.wustl.edu 37 9 4118413 4118413 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 4118413 4118413 G A SNP GLIS3 ENST00000381971 human ensembl 74_37 -1 known silent c.1065 p.R355 0.002 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC ENSG00000107249 41 0 0 32 20 38.4615 GLIS3 0 genome.wustl.edu 37 9 4118512 4118512 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 4118512 4118512 C T SNP GLIS3 ENST00000381971 human ensembl 74_37 -1 known silent c.966 p.T322 0.795 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC ENSG00000107249 114 0 0 79 47 37.3016 CBWD6 0 genome.wustl.edu 37 9 69247573 69247573 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 69247573 69247573 C T SNP CBWD6 ENST00000377457 human ensembl 74_37 -1 known missense c.439 p.A147T 1.000 pfam_CobW/HypB/UreG_dom,superfamily_P-loop_NTPase pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_P-loop_NTPase,superfamily_Cbl_biosynth_CobW-like_C,smart_Cbl_biosynth_CobW-like_C - no_errors CBWD6 HGNC ENSG00000204790 95 0 0 64 19 22.8916 PGM5 0 genome.wustl.edu 37 9 70993145 70993145 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 70993145 70993145 A G SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known missense c.292 p.I98V 1.000 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 94 0 0 79 6 7.05882 PTPRD 0 genome.wustl.edu 37 9 8341799 8341799 + Missense_Mutation SNP G G C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 8341799 8341799 G C SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.4841 p.T1614S 1.000 smart_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,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 PTPRD HGNC ENSG00000153707 236 0 0 101 59 36.875 SPATA31C1 0 genome.wustl.edu 37 9 90535407 90535407 + RNA SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 90535407 90535407 C A SNP SPATA31C1 ENST00000602681 human ensembl 74_37 +1 known rna NULL NULL 0.227 - - - no_errors SPATA31C1 HGNC ENSG00000230246 265 0 0 229 62 21.3058 SECISBP2 0 genome.wustl.edu 37 9 91964693 91964693 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 91964693 91964693 C T SNP SECISBP2 ENST00000375807 human ensembl 74_37 +1 known missense c.1741 p.P581S 0.001 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2 HGNC ENSG00000187742 123 0 0 60 14 18.9189 NOL8 0 genome.wustl.edu 37 9 95077084 95077084 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 95077084 95077084 G T SNP NOL8 ENST00000442668 human ensembl 74_37 -1 known missense c.1823 p.P608H 0.001 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NOL8 HGNC ENSG00000198000 35 0 0 12 9 42.8571 BICD2 0 genome.wustl.edu 37 9 95481859 95481859 + Silent SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 95481859 95481859 C T SNP BICD2 ENST00000356884 human ensembl 74_37 -1 known silent c.1068 p.E356 1.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 25 0 0 19 4 17.3913 ANKRD19P 0 genome.wustl.edu 37 9 95599403 95599403 + RNA SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 95599403 95599403 G A SNP ANKRD19P ENST00000464387 human ensembl 74_37 +1 known rna NULL NULL 0.715 - - - no_errors ANKRD19P HGNC ENSG00000187984 51 0 0 34 23 40.3509 ENSG00000226668 0 genome.wustl.edu 37 9 95647652 95647652 + RNA SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 95647652 95647652 C T SNP ENSG00000226668 ENST00000446878 human ensembl 74_37 +1 putative rna NULL NULL 0.062 - - - no_errors RP11-526D8.7 Clone_based_vega_gene ENSG00000226668 139 1 0.714286 111 46 29.2994 SUSD3 0 genome.wustl.edu 37 9 95840244 95840244 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 95840244 95840244 G A SNP SUSD3 ENST00000375472 human ensembl 74_37 +1 known missense c.394 p.V132M 0.860 NULL pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD3 HGNC ENSG00000157303 135 0 0 113 6 5.04202 WNK2 0 genome.wustl.edu 37 9 96051495 96051495 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 96051495 96051495 G A SNP WNK2 ENST00000297954 human ensembl 74_37 +1 known missense c.4570 p.G1524R 0.021 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK2 HGNC ENSG00000165238 15 0 0 18 8 30.7692 PHF2 0 genome.wustl.edu 37 9 96422584 96422584 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 96422584 96422584 G A SNP PHF2 ENST00000359246 human ensembl 74_37 +1 known silent c.1440 p.P480 0.988 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 25 0 0 19 3 13.6364 PHF2 0 genome.wustl.edu 37 9 96422621 96422621 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 96422621 96422621 A G SNP PHF2 ENST00000359246 human ensembl 74_37 +1 known missense c.1477 p.T493A 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 23 0 0 20 4 16.6667 PHF2 0 genome.wustl.edu 37 9 96422642 96422642 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 96422642 96422642 C A SNP PHF2 ENST00000359246 human ensembl 74_37 +1 known missense c.1498 p.P500T 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 18 0 0 16 4 20 PTCH1 0 genome.wustl.edu 37 9 98209302 98209302 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 98209302 98209302 G A SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known silent c.4236 p.P1412 1.000 NULL pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 148 0 0 117 58 33.1429 ERCC6L2 0 genome.wustl.edu 37 9 98729038 98729038 + RNA SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 98729038 98729038 A G SNP ERCC6L2 ENST00000466840 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors ERCC6L2 HGNC ENSG00000182150 28 0 0 10 13 56.5217 NUTM2G 0 genome.wustl.edu 37 9 99694443 99694443 + Silent SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 99694443 99694443 C A SNP NUTM2G ENST00000372322 human ensembl 74_37 +1 known silent c.456 p.S152 0.000 NULL NULL - no_errors NUTM2G HGNC ENSG00000188152 45 0 0 36 12 25 TCEAL5 0 genome.wustl.edu 37 X 102529191 102529191 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d X 102529191 102529191 G A SNP TCEAL5 ENST00000372680 human ensembl 74_37 -1 known missense c.301 p.R101W 0.000 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL5 HGNC ENSG00000204065 130 0 0 43 87 66.9231 FAM199X 0 genome.wustl.edu 37 X 103430850 103430850 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d X 103430850 103430850 G A SNP FAM199X ENST00000493442 human ensembl 74_37 +1 known missense c.521 p.R174Q 1.000 NULL NULL - no_errors FAM199X HGNC ENSG00000123575 66 0 0 19 34 64.1509 FRMPD3 0 genome.wustl.edu 37 X 106845934 106845934 + Silent SNP T T C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d X 106845934 106845934 T C SNP FRMPD3 ENST00000276185 human ensembl 74_37 +1 known silent c.4764 p.P1588 0.883 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 23 0 0 13 22 62.8571 TRPC5 0 genome.wustl.edu 37 X 111090507 111090507 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d X 111090507 111090507 C T SNP TRPC5 ENST00000262839 human ensembl 74_37 -1 known missense c.1535 p.R512H 1.000 pfam_Ion_trans_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 67 0 0 47 25 34.7222 TENM1 0 genome.wustl.edu 37 X 123526014 123526014 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d X 123526014 123526014 G A SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.5576 p.T1859M 0.995 tigrfam_YD pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 49 0 0 20 17 45.9459 FRMPD4 0 genome.wustl.edu 37 X 12735698 12735698 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d X 12735698 12735698 A G SNP FRMPD4 ENST00000380682 human ensembl 74_37 +1 known missense c.2753 p.E918G 1.000 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom - no_errors FRMPD4 HGNC ENSG00000169933 90 0 0 92 7 7.07071 ZIC3 0 genome.wustl.edu 37 X 136649856 136649856 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d X 136649856 136649856 G A SNP ZIC3 ENST00000287538 human ensembl 74_37 +1 known missense c.1006 p.G336R 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC3 HGNC ENSG00000156925 120 0 0 23 73 76.0417 AFF2 0 genome.wustl.edu 37 X 148055041 148055041 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d X 148055041 148055041 C T SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.3308 p.A1103V 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 68 0 0 43 6 12.2449 FAM58A 0 genome.wustl.edu 37 X 152853666 152853666 + RNA SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d X 152853666 152853666 C T SNP FAM58A ENST00000276345 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM58A HGNC ENSG00000147382 10 0 0 3 6 66.6667 FLNA 0 genome.wustl.edu 37 X 153590103 153590103 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d X 153590103 153590103 G T SNP FLNA ENST00000369850 human ensembl 74_37 -1 known missense c.2879 p.P960H 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 50 0 0 46 4 8 PLXNA3 0 genome.wustl.edu 37 X 153694759 153694759 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d X 153694759 153694759 C T SNP PLXNA3 ENST00000369682 human ensembl 74_37 +1 known missense c.2840 p.A947V 0.151 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 PLXNA3 HGNC ENSG00000130827 129 0 0 119 10 7.75194 NHS 0 genome.wustl.edu 37 X 17744539 17744539 + Silent SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d X 17744539 17744539 G A SNP NHS ENST00000380060 human ensembl 74_37 +1 known silent c.2250 p.A750 0.438 NULL NULL - no_errors NHS HGNC ENSG00000188158 87 0 0 25 52 67.5325 IL1RAPL1 0 genome.wustl.edu 37 X 29973926 29973926 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d X 29973926 29973926 G A SNP IL1RAPL1 ENST00000302196 human ensembl 74_37 +1 known missense c.2080 p.V694M 1.000 NULL pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL1RAPL1 HGNC ENSG00000169306 29 0 0 11 14 56 MAGEB1 0 genome.wustl.edu 37 X 30268874 30268874 + Missense_Mutation SNP G G T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d X 30268874 30268874 G T SNP MAGEB1 ENST00000378981 human ensembl 74_37 +1 known missense c.264 p.E88D 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB1 HGNC ENSG00000214107 12 0 0 2 4 66.6667 FAM47C 0 genome.wustl.edu 37 X 37029394 37029394 + Missense_Mutation SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d X 37029394 37029394 G A SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.2911 p.D971N 0.003 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 139 0 0 89 5 5.31915 CCNB3 0 genome.wustl.edu 37 X 50053923 50053923 + Missense_Mutation SNP G G C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d X 50053923 50053923 G C SNP CCNB3 ENST00000276014 human ensembl 74_37 +1 known missense c.2754 p.M918I 0.000 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 43 0 0 16 27 62.7907 CXorf67 0 genome.wustl.edu 37 X 51150755 51150755 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d X 51150755 51150755 C T SNP CXorf67 ENST00000342995 human ensembl 74_37 +1 known missense c.887 p.A296V 0.000 NULL NULL - no_errors CXorf67 HGNC ENSG00000187690 13 0 0 2 8 80 ZXDA 0 genome.wustl.edu 37 X 57936601 57936601 + Missense_Mutation SNP C C T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d X 57936601 57936601 C T SNP ZXDA ENST00000358697 human ensembl 74_37 -1 known missense c.254 p.G85D 0.711 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDA HGNC ENSG00000198205 20 0 0 4 10 71.4286 ITGB1BP2 0 genome.wustl.edu 37 X 70524391 70524391 + Splice_Site SNP G G A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d X 70524391 70524391 G A SNP ITGB1BP2 ENST00000373829 human ensembl 74_37 +1 known splice_site c.754-1 e10-1 1.000 - - - no_errors ITGB1BP2 HGNC ENSG00000147166 18 0 0 4 9 69.2308 COX7B 0 genome.wustl.edu 37 X 77158170 77158170 + Missense_Mutation SNP A A G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d X 77158170 77158170 A G SNP COX7B ENST00000481445 human ensembl 74_37 +1 known missense c.71 p.Q24R 1.000 pfam_Cyt_c_oxidase_suVIIB pfam_Cyt_c_oxidase_suVIIB,superfamily_Cyt_c_oxidase_suVIIB_dom - no_errors COX7B HGNC ENSG00000131174 34 0 0 8 19 70.3704 DACH2 0 genome.wustl.edu 37 X 86067899 86067899 + Missense_Mutation SNP G G C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d X 86067899 86067899 G C SNP DACH2 ENST00000373125 human ensembl 74_37 +1 known missense c.1281 p.L427F 0.991 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 38 0 0 7 10 58.8235 DDX3Y 0 genome.wustl.edu 37 Y 15026511 15026511 + Missense_Mutation SNP C C A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d Y 15026511 15026511 C A SNP DDX3Y ENST00000336079 human ensembl 74_37 +1 known missense c.709 p.L237M 0.509 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd 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 DDX3Y HGNC ENSG00000067048 58 0 0 2 2 50 NMNAT1 0 genome.wustl.edu 37 1 10042384 10042385 + Frame_Shift_Ins INS - - G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 10042384 10042385 - G INS NMNAT1 ENST00000377205 human ensembl 74_37 +1 known frame_shift_ins c.465_466 p.A156fs 0.998:1.000 pfam_Cyt_trans-like,tigrfam_NAMN_adtrnsfrase pfam_Cyt_trans-like,tigrfam_NAMN_adtrnsfrase - no_errors NMNAT1 HGNC ENSG00000173614 160 0 0 120 38 24.0506 NTNG1 0 genome.wustl.edu 37 1 107691083 107691083 + RNA DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 107691083 107691083 A - DEL NTNG1 ENST00000462149 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors NTNG1 HGNC ENSG00000162631 10 0 0 10 4 28.5714 ATXN7L2 0 genome.wustl.edu 37 1 110035319 110035319 + RNA DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 110035319 110035319 T - DEL ATXN7L2 ENST00000459635 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ATXN7L2 HGNC ENSG00000162650 37 0 0 35 22 38.5965 OLFML3 0 genome.wustl.edu 37 1 114523959 114523959 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 114523959 114523959 C - DEL OLFML3 ENST00000320334 human ensembl 74_37 +1 known frame_shift_del c.789 p.Y266fs 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML3 HGNC ENSG00000116774 126 0 0 82 39 32.2314 MXRA8 0 genome.wustl.edu 37 1 1290110 1290110 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 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 33 0 0 24 4 14.2857 MTMR11 0 genome.wustl.edu 37 1 149902648 149902648 + RNA DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 149902648 149902648 A - DEL MTMR11 ENST00000492824 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MTMR11 HGNC ENSG00000014914 25 0 0 18 8 30.7692 SETDB1 0 genome.wustl.edu 37 1 150917624 150917624 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 150917624 150917624 G - DEL SETDB1 ENST00000368962 human ensembl 74_37 +1 known frame_shift_del c.1180 p.G396fs 0.000 NULL smart_Tudor - no_errors SETDB1 HGNC ENSG00000143379 33 0 0 19 8 29.6296 CERS2 0 genome.wustl.edu 37 1 150938724 150938725 + Frame_Shift_Del DEL CT CT - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 150938724 150938725 CT - DEL CERS2 ENST00000271688 human ensembl 74_37 -1 known frame_shift_del c.1043_1042 p.S348fs 1.000:1.000 pirsf_Longevity_assurance_LAG1_LAC1 pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS2 HGNC ENSG00000143418 108 0 0 75 26 25.7426 PYGO2 0 genome.wustl.edu 37 1 154932028 154932028 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 154932028 154932028 G - DEL PYGO2 ENST00000368457 human ensembl 74_37 -1 known frame_shift_del c.448 p.Q150fs 0.997 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PYGO2 HGNC ENSG00000163348 134 0 0 88 23 20.7207 TMEM79 0 genome.wustl.edu 37 1 156255497 156255498 + Frame_Shift_Ins INS - - C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 156255497 156255498 - C INS TMEM79 ENST00000295694 human ensembl 74_37 +1 known frame_shift_ins c.480_481 p.R162fs 0.005:0.004 NULL NULL - no_errors TMEM79 HGNC ENSG00000163472 89 0 0 83 17 17 NES 0 genome.wustl.edu 37 1 156646931 156646931 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 156646931 156646931 C - DEL NES ENST00000368223 human ensembl 74_37 -1 known frame_shift_del c.126 p.L43fs 0.307 pfam_IF pfam_IF - no_errors NES HGNC ENSG00000132688 20 0 0 19 5 20.8333 SPEN 0 genome.wustl.edu 37 1 16254958 16254959 + Frame_Shift_Del DEL CT CT - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 16254958 16254959 CT - DEL SPEN ENST00000375759 human ensembl 74_37 +1 known frame_shift_del c.2223_2224 p.Q743fs 0.984:0.994 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 121 0 0 89 33 27.0492 SHCBP1L 0 genome.wustl.edu 37 1 182908369 182908370 + Frame_Shift_Ins INS - - T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 182908369 182908370 - T INS SHCBP1L ENST00000367547 human ensembl 74_37 -1 known frame_shift_ins c.1018_1017 p.Y339fs 1.000:0.996 NULL superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 - no_errors SHCBP1L HGNC ENSG00000157060 80 0 0 27 12 30.7692 DDX59 0 genome.wustl.edu 37 1 200594042 200594042 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 200594042 200594042 T - DEL DDX59 ENST00000447706 human ensembl 74_37 -1 known frame_shift_del c.1730 p.N577fs 0.001 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,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 DDX59 HGNC ENSG00000118197 77 0 0 25 8 24.2424 PPP1R12B 0 genome.wustl.edu 37 1 202407190 202407190 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 202407190 202407190 T - DEL PPP1R12B ENST00000480184 human ensembl 74_37 +1 novel frame_shift_del c.1496 p.F502fs 0.041 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PPP1R12B HGNC ENSG00000077157 44 0 0 29 13 30.9524 FMOD 0 genome.wustl.edu 37 1 203316599 203316600 + Frame_Shift_Ins INS - - C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 203316599 203316600 - C INS FMOD ENST00000354955 human ensembl 74_37 -1 known frame_shift_ins c.800_799 p.A267fs 0.002:0.001 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors FMOD HGNC ENSG00000122176 202 1 0.492611 133 48 26.5193 MAPKAPK2 0 genome.wustl.edu 37 1 206904645 206904646 + RNA DEL GT GT - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 206904645 206904646 GT - DEL MAPKAPK2 ENST00000479009 human ensembl 74_37 +1 putative rna NULL NULL 0.000:0.000 - - - no_errors MAPKAPK2 HGNC ENSG00000162889 24 0 0 35 11 23.913 CD46 0 genome.wustl.edu 37 1 207933081 207933082 + RNA INS - - T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 207933081 207933082 - T INS CD46 ENST00000469535 human ensembl 74_37 +1 known rna NULL NULL 0.008:0.015 - - - no_errors CD46 HGNC ENSG00000117335 32 0 0 5 6 54.5455 KCNH1 0 genome.wustl.edu 37 1 210857408 210857408 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 210857408 210857408 G - DEL KCNH1 ENST00000271751 human ensembl 74_37 -1 known frame_shift_del c.2185 p.L729fs 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 82 0 0 52 21 28.7671 PROX1 0 genome.wustl.edu 37 1 214178556 214178556 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 214178556 214178556 T - DEL PROX1 ENST00000261454 human ensembl 74_37 +1 known frame_shift_del c.1774 p.Y594fs 1.000 pfam_Homeo_prospero_dom,superfamily_Homeodomain-like pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 107 0 0 48 22 31.4286 PTPN14 0 genome.wustl.edu 37 1 214557049 214557051 + In_Frame_Del DEL CCT CCT - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 214557049 214557051 CCT - DEL PTPN14 ENST00000366956 human ensembl 74_37 -1 known in_frame_del c.2149_2147 p.E716in_frame_del 0.182:0.503:0.995 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC ENSG00000152104 75 0 0 51 21 29.1667 CAPN2 0 genome.wustl.edu 37 1 223934727 223934727 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 223934727 223934727 G - DEL CAPN2 ENST00000295006 human ensembl 74_37 +1 known frame_shift_del c.589 p.G198fs 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN2 HGNC ENSG00000162909 135 0 0 83 34 29.0598 ADCK3 0 genome.wustl.edu 37 1 227171736 227171737 + RNA DEL GG GG - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 227171736 227171737 GG - DEL ADCK3 ENST00000478406 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors ADCK3 HGNC ENSG00000163050 18 0 0 18 2 10 ABCB10 0 genome.wustl.edu 37 1 229653864 229653865 + RNA INS - - T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 229653864 229653865 - T INS ABCB10 ENST00000498158 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors ABCB10 HGNC ENSG00000135776 11 0 0 7 7 50 EPHB2 0 genome.wustl.edu 37 1 23240246 23240246 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 23240246 23240246 A - DEL EPHB2 ENST00000400191 human ensembl 74_37 +1 known frame_shift_del c.3051 p.K1020fs 0.270 NULL 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_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 EPHB2 HGNC ENSG00000133216 20 0 0 16 7 30.4348 RBM34 0 genome.wustl.edu 37 1 235323946 235323947 + Frame_Shift_Ins INS - - T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 235323946 235323947 - T INS RBM34 ENST00000408888 human ensembl 74_37 -1 known frame_shift_ins c.245_244 p.T82fs 0.962:0.968 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM34 HGNC ENSG00000188739 101 0 0 77 14 15.3846 TCEB3 0 genome.wustl.edu 37 1 24078404 24078405 + Frame_Shift_Del DEL AA AA - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 24078404 24078405 AA - DEL TCEB3 ENST00000418390 human ensembl 74_37 +1 known frame_shift_del c.1387_1388 p.N465fs 0.998:1.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom - no_errors TCEB3 HGNC ENSG00000011007 146 0 0 125 53 29.7753 SDCCAG8 0 genome.wustl.edu 37 1 243468023 243468023 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 243468023 243468023 A - DEL SDCCAG8 ENST00000366541 human ensembl 74_37 +1 known frame_shift_del c.684 p.K229fs 0.271 NULL NULL - no_errors SDCCAG8 HGNC ENSG00000054282 45 0 0 24 7 22.5806 PTPRU 0 genome.wustl.edu 37 1 29585189 29585189 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 29585189 29585189 C - DEL PTPRU ENST00000345512 human ensembl 74_37 +1 known frame_shift_del c.378 p.L128fs 0.863 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom 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 180 1 0.552486 119 58 32.7684 FHL3 0 genome.wustl.edu 37 1 38462977 38462977 + RNA DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 38462977 38462977 T - DEL FHL3 ENST00000475084 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors FHL3 HGNC ENSG00000183386 49 0 0 40 16 28.5714 HIVEP3 0 genome.wustl.edu 37 1 42048868 42048868 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 42048868 42048868 G - DEL HIVEP3 ENST00000247584 human ensembl 74_37 -1 known frame_shift_del c.1601 p.P534fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 146 0 0 110 51 31.677 TSPAN1 0 genome.wustl.edu 37 1 46650191 46650192 + RNA INS - - GG TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 46650191 46650192 - GG INS TSPAN1 ENST00000482143 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors TSPAN1 HGNC ENSG00000117472 99 0 0 74 22 22.9167 AJAP1 0 genome.wustl.edu 37 1 4772068 4772068 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 4772068 4772068 G - DEL AJAP1 ENST00000378190 human ensembl 74_37 +1 known frame_shift_del c.138 p.P48fs 0.294 NULL NULL - no_errors AJAP1 HGNC ENSG00000196581 243 0 0 249 37 12.9371 TMEM59 0 genome.wustl.edu 37 1 54502396 54502396 + RNA DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 54502396 54502396 A - DEL TMEM59 ENST00000470395 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TMEM59 HGNC ENSG00000116209 19 0 0 9 14 60.8696 RPL22 0 genome.wustl.edu 37 1 6257793 6257794 + Frame_Shift_Ins INS - - C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 6257793 6257794 - C INS RPL22 ENST00000234875 human ensembl 74_37 -1 known frame_shift_ins c.36_35 p.K13fs 1.000:1.000 NULL pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 27 0 0 26 5 16.129 DNAJC6 0 genome.wustl.edu 37 1 65851489 65851489 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 65851489 65851489 C - DEL DNAJC6 ENST00000371069 human ensembl 74_37 +1 known frame_shift_del c.895 p.F301fs 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_C2_dom,smart_DnaJ_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors DNAJC6 HGNC ENSG00000116675 98 0 0 65 17 20.7317 KLHL21 0 genome.wustl.edu 37 1 6653565 6653567 + In_Frame_Del DEL AGA AGA - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 6653565 6653567 AGA - DEL KLHL21 ENST00000377658 human ensembl 74_37 -1 known in_frame_del c.1654_1652 p.F551in_frame_del 1.000:1.000:1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,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 KLHL21 HGNC ENSG00000162413 95 0 0 62 18 22.5 PKN2 0 genome.wustl.edu 37 1 89206848 89206848 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 89206848 89206848 A - DEL PKN2 ENST00000370521 human ensembl 74_37 +1 known frame_shift_del c.226 p.S78fs 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 22 0 0 19 6 24 CDC7 0 genome.wustl.edu 37 1 91967357 91967357 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 91967357 91967357 A - DEL CDC7 ENST00000234626 human ensembl 74_37 +1 known frame_shift_del c.84 p.N31fs 0.083 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 CDC7 HGNC ENSG00000097046 142 1 0.699301 66 39 37.1429 ARHGAP29 0 genome.wustl.edu 37 1 94643144 94643144 + RNA DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 94643144 94643144 T - DEL ARHGAP29 ENST00000482481 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ARHGAP29 HGNC ENSG00000137962 39 0 0 17 7 29.1667 DPYD 0 genome.wustl.edu 37 1 97771791 97771791 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 1 97771791 97771791 A - DEL DPYD ENST00000370192 human ensembl 74_37 -1 known frame_shift_del c.2121 p.F707fs 1.000 pfam_Dihydroorotate_DH_1_2,pfam_tRNA_hU_synthase,tigrfam_Dihydroorotate_DH pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 238 1 0.41841 161 47 22.5962 GBF1 0 genome.wustl.edu 37 10 104120909 104120909 + RNA DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 104120909 104120909 A - DEL GBF1 ENST00000476019 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors GBF1 HGNC ENSG00000107862 46 0 0 22 9 29.0323 SMC3 0 genome.wustl.edu 37 10 112361549 112361551 + In_Frame_Del DEL GAA GAA - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 112361549 112361551 GAA - DEL SMC3 ENST00000361804 human ensembl 74_37 +1 known in_frame_del c.2799_2801 p.K936in_frame_del 0.928:1.000:1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC3 HGNC ENSG00000108055 107 0 0 84 15 15.1515 ATE1 0 genome.wustl.edu 37 10 123673353 123673353 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 123673353 123673353 T - DEL ATE1 ENST00000224652 human ensembl 74_37 -1 known frame_shift_del c.289 p.M97fs 1.000 pfam_Arg_tRNA_PTrfase_N,pirsf_Arg-tRNA-P_Trfase_1_euk pfam_Arg-tRNA-P_Trfase_C,pfam_Arg_tRNA_PTrfase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Arg-tRNA-P_Trfase_1_euk - no_errors ATE1 HGNC ENSG00000107669 52 0 0 27 13 32.5 CCDC3 0 genome.wustl.edu 37 10 12940430 12940431 + Frame_Shift_Ins INS - - G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 12940430 12940431 - G INS CCDC3 ENST00000378825 human ensembl 74_37 -1 known frame_shift_ins c.799_798 p.Y266fs 0.987:0.964 NULL NULL - no_errors CCDC3 HGNC ENSG00000151468 48 0 0 46 22 32.3529 FUOM 0 genome.wustl.edu 37 10 135169074 135169074 + RNA DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 135169074 135169074 C - DEL FUOM ENST00000478895 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FUOM HGNC ENSG00000148803 28 0 0 32 17 34.6939 FRMD4A 0 genome.wustl.edu 37 10 13696452 13696452 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 13696452 13696452 G - DEL FRMD4A ENST00000357447 human ensembl 74_37 -1 known frame_shift_del c.3014 p.P1005fs 1.000 NULL pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 147 0 0 57 30 34.4828 GPR158 0 genome.wustl.edu 37 10 25886928 25886928 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 25886928 25886928 C - DEL GPR158 ENST00000376351 human ensembl 74_37 +1 known frame_shift_del c.2373 p.P793fs 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 153 0 0 134 44 24.7191 PFKP 0 genome.wustl.edu 37 10 3172106 3172106 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 3172106 3172106 G - DEL PFKP ENST00000381125 human ensembl 74_37 +1 known frame_shift_del c.1779 p.L596fs 1.000 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,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 111 0 0 110 36 24.6575 PITRM1 0 genome.wustl.edu 37 10 3207632 3207632 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 3207632 3207632 A - DEL PITRM1 ENST00000380989 human ensembl 74_37 -1 known frame_shift_del c.506 p.F169fs 1.000 pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 - no_errors PITRM1 HGNC ENSG00000107959 44 0 0 28 6 17.6471 C10orf68 0 genome.wustl.edu 37 10 33018277 33018277 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 33018277 33018277 A - DEL C10orf68 ENST00000375025 human ensembl 74_37 +1 known frame_shift_del c.718 p.K242fs 0.000 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 98 0 0 26 14 35 ASAH2 0 genome.wustl.edu 37 10 52005194 52005194 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 52005194 52005194 A - DEL ASAH2 ENST00000395526 human ensembl 74_37 -1 known frame_shift_del c.148 p.S50fs 0.000 NULL pfam_Ceramidase_alk - no_errors ASAH2 HGNC ENSG00000188611 36 0 0 29 15 34.0909 PRKG1 0 genome.wustl.edu 37 10 54048574 54048574 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 54048574 54048574 A - DEL PRKG1 ENST00000373980 human ensembl 74_37 +1 known frame_shift_del c.1798 p.N601fs 1.000 pirsf_cGMP-dependent_protein_kinase,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 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,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom - no_errors PRKG1 HGNC ENSG00000185532 62 0 0 43 15 25.8621 JMJD1C 0 genome.wustl.edu 37 10 64960289 64960289 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 64960289 64960289 T - DEL JMJD1C ENST00000399262 human ensembl 74_37 -1 known frame_shift_del c.5223 p.G1742fs 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 49 0 0 23 3 11.5385 CTNNA3 0 genome.wustl.edu 37 10 67680207 67680208 + Frame_Shift_Ins INS - - TT TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 67680207 67680208 - TT INS CTNNA3 ENST00000373744 human ensembl 74_37 -1 known frame_shift_ins c.2569_2568 p.P856fs 1.000:0.996 pfam_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 187 0 0 72 32 30.7692 DNA2 0 genome.wustl.edu 37 10 70182521 70182521 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 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 55 0 0 38 9 19.1489 TET1 0 genome.wustl.edu 37 10 70450889 70450890 + Frame_Shift_Ins INS - - C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 70450889 70450890 - C INS TET1 ENST00000373644 human ensembl 74_37 +1 known frame_shift_ins c.5729_5730 p.T1912fs 0.001:0.005 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 88 0 0 88 29 24.7863 ENSG00000200294 0 genome.wustl.edu 37 10 73940733 73940733 + RNA DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 73940733 73940733 T - DEL ENSG00000200294 ENST00000363424 human ensembl 74_37 +1 novel rna NULL NULL 0.371 - - - no_errors SNORA36 RFAM ENSG00000200294 8 0 0 7 6 46.1538 ZSWIM8 0 genome.wustl.edu 37 10 75560546 75560546 + RNA DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 75560546 75560546 C - DEL ZSWIM8 ENST00000603195 human ensembl 74_37 +1 known rna NULL NULL 0.749 - - - no_errors ZSWIM8 HGNC ENSG00000214655 26 0 0 24 8 25 KCNMA1 0 genome.wustl.edu 37 10 79397264 79397266 + In_Frame_Del DEL GAG GAG - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 79397264 79397266 GAG - DEL KCNMA1 ENST00000406533 human ensembl 74_37 -1 known in_frame_del c.137_135 p.S49in_frame_del 0.437:0.428:0.382 NULL 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 16 0 0 6 5 45.4545 ENTPD1-AS1 0 genome.wustl.edu 37 10 97515949 97515949 + RNA DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 10 97515949 97515949 G - DEL ENTPD1-AS1 ENST00000416301 human ensembl 74_37 -1 known rna NULL NULL 0.906 - - - no_errors ENTPD1-AS1 HGNC ENSG00000226688 9 0 0 10 4 28.5714 NPAT 0 genome.wustl.edu 37 11 108044068 108044069 + Frame_Shift_Ins INS - - T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 108044068 108044069 - T INS NPAT ENST00000278612 human ensembl 74_37 -1 known frame_shift_ins c.1643_1642 p.S548fs 0.000:0.000 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors NPAT HGNC ENSG00000149308 56 0 0 39 13 25 DDX10 0 genome.wustl.edu 37 11 108544239 108544239 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 108544239 108544239 A - DEL DDX10 ENST00000322536 human ensembl 74_37 +1 known frame_shift_del c.232 p.T80fs 0.988 pfscan_RNA_helicase_DEAD_Q_motif 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 DDX10 HGNC ENSG00000178105 55 0 0 28 9 24.3243 HSPB2 0 genome.wustl.edu 37 11 111784474 111784475 + Frame_Shift_Del DEL CT CT - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 111784474 111784475 CT - DEL HSPB2 ENST00000304298 human ensembl 74_37 +1 known frame_shift_del c.404_405 p.S137fs 0.534:0.112 pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors HSPB2 Uniprot_gn ENSG00000170276 76 0 0 59 25 29.7619 REXO2 0 genome.wustl.edu 37 11 114320750 114320750 + RNA DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 114320750 114320750 T - DEL REXO2 ENST00000544507 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors REXO2 HGNC ENSG00000076043 82 0 0 50 17 25.3731 DSCAML1 0 genome.wustl.edu 37 11 117299188 117299188 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 117299188 117299188 G - DEL DSCAML1 ENST00000321322 human ensembl 74_37 -1 known frame_shift_del c.6198 p.S2067fs 1.000 NULL 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 28 0 0 30 6 16.6667 NLRX1 0 genome.wustl.edu 37 11 119050611 119050611 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 119050611 119050611 G - DEL NLRX1 ENST00000292199 human ensembl 74_37 +1 known frame_shift_del c.1881 p.L630fs 1.000 NULL superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 108 0 0 103 6 5.50459 SORL1 0 genome.wustl.edu 37 11 121475905 121475905 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 121475905 121475905 A - DEL SORL1 ENST00000260197 human ensembl 74_37 +1 known frame_shift_del c.4735 p.M1581fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 145 0 0 79 33 29.4643 OR8D4 0 genome.wustl.edu 37 11 123777442 123777442 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 123777442 123777442 T - DEL OR8D4 ENST00000321355 human ensembl 74_37 +1 known frame_shift_del c.304 p.F104fs 0.939 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 OR8D4 HGNC ENSG00000181518 352 0 0 163 80 32.9218 OR8D2 0 genome.wustl.edu 37 11 124189773 124189773 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 124189773 124189773 A - DEL OR8D2 ENST00000357438 human ensembl 74_37 -1 known frame_shift_del c.321 p.F107fs 0.919 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 OR8D2 HGNC ENSG00000197263 57 0 0 43 17 28.3333 ROBO3 0 genome.wustl.edu 37 11 124747920 124747921 + Frame_Shift_Ins INS - - G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 124747920 124747921 - G INS ROBO3 ENST00000397801 human ensembl 74_37 +1 known frame_shift_ins c.3074_3075 p.E1027fs 0.307:0.197 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 20 0 0 17 7 29.1667 CCDC15 0 genome.wustl.edu 37 11 124857645 124857646 + Frame_Shift_Ins INS - - T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 124857645 124857646 - T INS CCDC15 ENST00000344762 human ensembl 74_37 +1 known frame_shift_ins c.1523_1524 p.L510fs 0.000:0.002 NULL NULL - no_errors CCDC15 HGNC ENSG00000149548 229 0 0 167 57 25.4464 DUSP8 0 genome.wustl.edu 37 11 1577819 1577820 + Frame_Shift_Del DEL CG CG - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 CG CG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 1577819 1577820 CG - DEL DUSP8 ENST00000331588 human ensembl 74_37 -1 known frame_shift_del c.1807_1806 p.G603fs 0.233:0.104 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP8 HGNC ENSG00000184545 8 0 0 2 4 66.6667 KRTAP5-1 0 genome.wustl.edu 37 11 1606326 1606326 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 1606326 1606326 C - DEL KRTAP5-1 ENST00000382171 human ensembl 74_37 -1 known frame_shift_del c.154 p.V52fs 0.995 NULL NULL - no_errors KRTAP5-1 HGNC ENSG00000205869 303 0 0 315 117 27.0833 KRTAP5-4 0 genome.wustl.edu 37 11 1643193 1643193 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 1643193 1643193 C - DEL KRTAP5-4 ENST00000399682 human ensembl 74_37 -1 known frame_shift_del c.131 p.G44fs 0.986 NULL NULL - no_errors KRTAP5-4 HGNC ENSG00000241598 169 0 0 230 24 9.44882 ARL14EP 0 genome.wustl.edu 37 11 30352754 30352754 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 30352754 30352754 A - DEL ARL14EP ENST00000282032 human ensembl 74_37 +1 known frame_shift_del c.259 p.N89fs 1.000 NULL NULL - no_errors ARL14EP HGNC ENSG00000152219 114 1 0.869565 68 32 32 FBXO3 0 genome.wustl.edu 37 11 33792304 33792304 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 33792304 33792304 T - DEL FBXO3 ENST00000265651 human ensembl 74_37 -1 known frame_shift_del c.177 p.K59fs 1.000 superfamily_F-box_dom pfam_ApaG_domain,pfam_F-box_dom,superfamily_ApaG_domain,superfamily_F-box_dom,smart_F-box_dom,smart_SMI1/KNR4_like_dom,pfscan_ApaG_domain,pfscan_F-box_dom - no_errors FBXO3 HGNC ENSG00000110429 395 0 0 252 99 28.2051 GYLTL1B 0 genome.wustl.edu 37 11 45948373 45948373 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 45948373 45948373 C - DEL GYLTL1B ENST00000325468 human ensembl 74_37 +1 known frame_shift_del c.1276 p.R428fs 0.023 NULL pfam_Glyco_trans_8 - no_errors GYLTL1B HGNC ENSG00000165905 78 0 0 54 12 18.1818 PSMC3 0 genome.wustl.edu 37 11 47440673 47440674 + Frame_Shift_Del DEL CA CA - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 47440673 47440674 CA - DEL PSMC3 ENST00000298852 human ensembl 74_37 -1 known frame_shift_del c.1203_1202 p.V401fs 1.000:1.000 superfamily_P-loop_NTPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC3 HGNC ENSG00000165916 105 0 0 108 15 12.1951 OR5M3 0 genome.wustl.edu 37 11 56237709 56237709 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 56237709 56237709 T - DEL OR5M3 ENST00000312240 human ensembl 74_37 -1 known frame_shift_del c.265 p.T89fs 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M3 HGNC ENSG00000174937 146 0 0 80 11 12.0879 FAM111B 0 genome.wustl.edu 37 11 58892377 58892377 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 58892377 58892377 A - DEL FAM111B ENST00000343597 human ensembl 74_37 +1 known frame_shift_del c.807 p.K272fs 0.000 NULL superfamily_Trypsin-like_Pept_dom - no_errors FAM111B HGNC ENSG00000189057 41 0 0 35 20 36.3636 VWCE 0 genome.wustl.edu 37 11 61044094 61044094 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 61044094 61044094 G - DEL VWCE ENST00000335613 human ensembl 74_37 -1 known frame_shift_del c.1466 p.P489fs 0.008 smart_VWC_out,smart_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 52 0 0 29 6 17.1429 PHRF1 0 genome.wustl.edu 37 11 610707 610709 + In_Frame_Del DEL GGA GGA - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 610707 610709 GGA - DEL PHRF1 ENST00000264555 human ensembl 74_37 +1 known in_frame_del c.4623_4625 p.E1543in_frame_del 0.000:0.973:1.000 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 53 0 0 43 13 23.2143 RTN3 0 genome.wustl.edu 37 11 63525656 63525656 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 63525656 63525656 A - DEL RTN3 ENST00000377819 human ensembl 74_37 +1 known frame_shift_del c.3082 p.K1030fs 1.000 pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 55 0 0 9 19 67.8571 MEN1 0 genome.wustl.edu 37 11 64572093 64572093 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 64572093 64572093 G - DEL MEN1 ENST00000337652 human ensembl 74_37 -1 known frame_shift_del c.1561 p.R521fs 0.999 pfam_Menin pfam_Menin - no_errors MEN1 HGNC ENSG00000133895 27 0 0 30 10 25 MALAT1 0 genome.wustl.edu 37 11 65268919 65268919 + RNA DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 65268919 65268919 T - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 20 0 0 18 11 37.931 BRMS1 0 genome.wustl.edu 37 11 66108714 66108714 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 66108714 66108714 C - DEL BRMS1 ENST00000425825 human ensembl 74_37 -1 known frame_shift_del c.321 p.L108fs 0.992 pfam_Sds3 pfam_Sds3 - no_errors BRMS1 HGNC ENSG00000174744 81 0 0 56 28 33.3333 OR2AT4 0 genome.wustl.edu 37 11 74800160 74800161 + Frame_Shift_Ins INS - - G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 74800160 74800161 - G INS OR2AT4 ENST00000305159 human ensembl 74_37 -1 known frame_shift_ins c.599_598 p.Q200fs 0.816:0.565 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR2AT4 HGNC ENSG00000171561 33 0 0 28 10 26.3158 USP35 0 genome.wustl.edu 37 11 77920855 77920856 + Frame_Shift_Ins INS - - C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 77920855 77920856 - C INS USP35 ENST00000529308 human ensembl 74_37 +1 known frame_shift_ins c.1954_1955 p.T655fs 0.000:0.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP35 HGNC ENSG00000118369 27 0 0 33 8 19.5122 USP35 0 genome.wustl.edu 37 11 77920856 77920856 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 77920856 77920856 C - DEL USP35 ENST00000529308 human ensembl 74_37 +1 known frame_shift_del c.1955 p.T655fs 0.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP35 HGNC ENSG00000118369 27 0 0 31 10 24.3902 RIC3 0 genome.wustl.edu 37 11 8159967 8159968 + RNA DEL AA AA - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 8159967 8159968 AA - DEL RIC3 ENST00000524799 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RIC3 HGNC ENSG00000166405 42 0 0 32 10 23.8095 RIC3 0 genome.wustl.edu 37 11 8161538 8161539 + Frame_Shift_Ins INS - - A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 11 8161538 8161539 - A INS RIC3 ENST00000309737 human ensembl 74_37 -1 known frame_shift_ins c.327_326 p.L109fs 0.946:1.000 NULL NULL - no_errors RIC3 HGNC ENSG00000166405 79 0 0 58 17 22.6667 UHRF1BP1L 0 genome.wustl.edu 37 12 100451840 100451840 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 100451840 100451840 G - DEL UHRF1BP1L ENST00000279907 human ensembl 74_37 -1 known frame_shift_del c.3215 p.P1072fs 0.844 NULL NULL - no_errors UHRF1BP1L HGNC ENSG00000111647 127 0 0 82 21 20.3883 MYBPC1 0 genome.wustl.edu 37 12 102043102 102043102 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 102043102 102043102 A - DEL MYBPC1 ENST00000361466 human ensembl 74_37 +1 known frame_shift_del c.1261 p.K422fs 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 MYBPC1 HGNC ENSG00000196091 110 0 0 67 40 37.3832 NT5DC3 0 genome.wustl.edu 37 12 104182803 104182804 + RNA INS - - A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 104182803 104182804 - A INS NT5DC3 ENST00000474268 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors NT5DC3 HGNC ENSG00000111696 23 0 0 18 6 25 SLC41A2 0 genome.wustl.edu 37 12 105198777 105198777 + RNA DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 105198777 105198777 A - DEL SLC41A2 ENST00000549713 human ensembl 74_37 -1 known rna NULL NULL 0.849 - - - no_errors SLC41A2 HGNC ENSG00000136052 30 0 0 24 5 17.2414 HECTD4 0 genome.wustl.edu 37 12 112601005 112601005 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 112601005 112601005 C - DEL HECTD4 ENST00000377560 human ensembl 74_37 -1 known frame_shift_del c.12445 p.A4149fs 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 117 0 0 115 8 6.50407 OAS2 0 genome.wustl.edu 37 12 113435331 113435331 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 113435331 113435331 A - DEL OAS2 ENST00000342315 human ensembl 74_37 +1 known frame_shift_del c.634 p.I214fs 0.000 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 OAS2 HGNC ENSG00000111335 79 0 0 55 20 26.6667 PRB3 0 genome.wustl.edu 37 12 11420683 11420683 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 11420683 11420683 G - DEL PRB3 ENST00000381842 human ensembl 74_37 -1 known frame_shift_del c.500 p.P167fs 0.257 NULL NULL - no_errors PRB3 HGNC ENSG00000197870 615 0 0 392 57 12.6949 PRB3 0 genome.wustl.edu 37 12 11420746 11420746 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 11420746 11420746 G - DEL PRB3 ENST00000381842 human ensembl 74_37 -1 known frame_shift_del c.437 p.P146fs 0.997 NULL NULL - no_errors PRB3 HGNC ENSG00000197870 634 0 0 454 40 8.09717 NOS1 0 genome.wustl.edu 37 12 117703229 117703230 + Frame_Shift_Ins INS - - C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 117703229 117703230 - C INS NOS1 ENST00000317775 human ensembl 74_37 -1 known frame_shift_ins c.2028_2027 p.C677fs 1.000:1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,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 18 0 0 18 6 25 HNF1A 0 genome.wustl.edu 37 12 121432118 121432118 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 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 19 0 0 14 15 51.7241 VPS37B 0 genome.wustl.edu 37 12 123351892 123351892 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 123351892 123351892 G - DEL VPS37B ENST00000267202 human ensembl 74_37 -1 known frame_shift_del c.629 p.P210fs 0.609 NULL pfam_Mod_r - no_errors VPS37B HGNC ENSG00000139722 21 0 0 22 5 18.5185 NCOR2 0 genome.wustl.edu 37 12 124856837 124856837 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 124856837 124856837 G - DEL NCOR2 ENST00000356219 human ensembl 74_37 -1 known frame_shift_del c.2538 p.A847fs 0.010 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 57 0 0 40 21 34.4262 GPR19 0 genome.wustl.edu 37 12 12814274 12814274 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 12814274 12814274 T - DEL GPR19 ENST00000332427 human ensembl 74_37 -1 known frame_shift_del c.1109 p.N370fs 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR19 HGNC ENSG00000183150 202 0 0 95 37 28.0303 TMEM132D 0 genome.wustl.edu 37 12 130184704 130184705 + Frame_Shift_Ins INS - - G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 130184704 130184705 - G INS TMEM132D ENST00000422113 human ensembl 74_37 -1 known frame_shift_ins c.619_618 p.T206fs 0.073:0.027 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 64 0 0 51 11 17.7419 STX2 0 genome.wustl.edu 37 12 131283100 131283100 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 131283100 131283100 T - DEL STX2 ENST00000392373 human ensembl 74_37 -1 known frame_shift_del c.756 p.A253fs 0.955 pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX2 HGNC ENSG00000111450 113 0 0 62 26 29.5455 EP400 0 genome.wustl.edu 37 12 132547093 132547094 + In_Frame_Ins INS - - CAG TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 132547093 132547094 - CAG INS EP400 ENST00000333577 human ensembl 74_37 +1 known in_frame_ins c.8289_8290 p.2767in_frame_insQ 0.900:0.920 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 83 0 0 84 17 16.8317 PLEKHA5 0 genome.wustl.edu 37 12 19460408 19460408 + RNA DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 19460408 19460408 A - DEL PLEKHA5 ENST00000510738 human ensembl 74_37 +1 known rna NULL NULL 0.931 - - - no_errors PLEKHA5 HGNC ENSG00000052126 22 0 0 15 12 44.4444 PLEKHA5 0 genome.wustl.edu 37 12 19522710 19522711 + Frame_Shift_Del DEL AT AT - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 19522710 19522711 AT - DEL PLEKHA5 ENST00000317589 human ensembl 74_37 +1 known frame_shift_del c.3529_3530 p.M1177fs 1.000:1.000 NULL pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA5 HGNC ENSG00000052126 67 0 0 45 11 19.6429 CACNA1C 0 genome.wustl.edu 37 12 2760757 2760757 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 2760757 2760757 C - DEL CACNA1C ENST00000344100 human ensembl 74_37 +1 known frame_shift_del c.3963 p.P1323fs 0.003 pfam_Ion_trans_dom,pfam_PKD1_2_channel 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 106 0 0 111 10 8.26446 TMTC1 0 genome.wustl.edu 37 12 29689236 29689236 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 29689236 29689236 T - DEL TMTC1 ENST00000256062 human ensembl 74_37 -1 known frame_shift_del c.1367 p.K456fs 0.929 pfam_PIK-rel_kinase_FAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC1 HGNC ENSG00000133687 145 0 0 76 28 26.9231 KDM5A 0 genome.wustl.edu 37 12 416953 416953 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 416953 416953 T - DEL KDM5A ENST00000399788 human ensembl 74_37 -1 known frame_shift_del c.3597 p.G1200fs 0.987 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger 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 144 1 0.689655 73 38 34.2342 ARID2 0 genome.wustl.edu 37 12 46230646 46230648 + In_Frame_Del DEL GAG GAG - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 46230646 46230648 GAG - DEL ARID2 ENST00000334344 human ensembl 74_37 +1 known in_frame_del c.895_897 p.E300in_frame_del 1.000:1.000:1.000 superfamily_ARM-type_fold pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 123 0 0 59 29 32.9545 WNT1 0 genome.wustl.edu 37 12 49374348 49374348 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 49374348 49374348 G - DEL WNT1 ENST00000293549 human ensembl 74_37 +1 known frame_shift_del c.500 p.G169fs 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt1 - no_errors WNT1 HGNC ENSG00000125084 19 0 0 30 5 14.2857 KMT2D 0 genome.wustl.edu 37 12 49420302 49420303 + Frame_Shift_Del DEL AA AA - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 49420302 49420303 AA - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.15447_15446 p.F5149fs 0.974:1.000 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 86 0 0 75 43 36.4407 KRT6A 0 genome.wustl.edu 37 12 52886577 52886578 + Frame_Shift_Ins INS - - G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 52886577 52886578 - G INS KRT6A ENST00000330722 human ensembl 74_37 -1 known frame_shift_ins c.396_395 p.G133fs 0.996:1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6A HGNC ENSG00000205420 122 0 0 117 24 17.0213 SMARCC2 0 genome.wustl.edu 37 12 56559113 56559113 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 56559113 56559113 G - DEL SMARCC2 ENST00000267064 human ensembl 74_37 -1 known frame_shift_del c.3128 p.P1043fs 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 128 0 0 100 19 15.9664 MARS 0 genome.wustl.edu 37 12 57882014 57882014 + RNA DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 57882014 57882014 G - DEL MARS ENST00000548146 human ensembl 74_37 +1 known rna NULL NULL 0.009 - - - no_errors MARS HGNC ENSG00000166986 75 0 0 48 25 34.2466 ARHGEF25 0 genome.wustl.edu 37 12 58007272 58007274 + In_Frame_Del DEL AGA AGA - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 58007272 58007274 AGA - DEL ARHGEF25 ENST00000333972 human ensembl 74_37 +1 known in_frame_del c.575_577 p.K195in_frame_del 1.000:1.000:1.000 superfamily_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF25 HGNC ENSG00000240771 176 0 0 98 27 21.6 VWF 0 genome.wustl.edu 37 12 6128170 6128170 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 6128170 6128170 C - DEL VWF ENST00000261405 human ensembl 74_37 -1 known frame_shift_del c.4414 p.D1472fs 0.000 pirsf_VWF pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 58 0 0 34 17 33.3333 TMBIM4 0 genome.wustl.edu 37 12 66531937 66531937 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 66531937 66531937 A - DEL TMBIM4 ENST00000358230 human ensembl 74_37 -1 known frame_shift_del c.520 p.Y174fs 0.028 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors TMBIM4 HGNC ENSG00000155957 67 0 0 42 12 22.2222 ATN1 0 genome.wustl.edu 37 12 7045027 7045028 + Frame_Shift_Ins INS - - C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 7045027 7045028 - C INS ATN1 ENST00000356654 human ensembl 74_37 +1 known frame_shift_ins c.597_598 p.T201fs 1.000:1.000 NULL pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 118 0 0 89 32 26.4463 ATN1 0 genome.wustl.edu 37 12 7045880 7045885 + In_Frame_Del DEL CAGCAA CAGCAA - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 CAGCAA CAGCAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 7045880 7045885 CAGCAA - DEL ATN1 ENST00000356654 human ensembl 74_37 +1 known in_frame_del c.1450_1455 p.QQ487in_frame_del 1.000:0.999:0.993:0.986:0.850:0.049 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 319 0 0 375 20 5.06329 PTPRB 0 genome.wustl.edu 37 12 70989964 70989964 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 70989964 70989964 C - DEL PTPRB ENST00000334414 human ensembl 74_37 -1 known frame_shift_del c.1123 p.V375fs 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 77 0 0 48 13 21.3115 LGR5 0 genome.wustl.edu 37 12 71977724 71977724 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 71977724 71977724 T - DEL LGR5 ENST00000266674 human ensembl 74_37 +1 known frame_shift_del c.1934 p.F646fs 1.000 pfam_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM 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,pfscan_GPCR_Rhodpsn_7TM - no_errors LGR5 HGNC ENSG00000139292 126 0 0 77 7 8.33333 CEP290 0 genome.wustl.edu 37 12 88449444 88449444 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 12 88449444 88449444 T - DEL CEP290 ENST00000309041 human ensembl 74_37 -1 known frame_shift_del c.6875 p.N2292fs 0.987 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 9 0 0 5 5 50 CDC16 0 genome.wustl.edu 37 13 115012591 115012591 + RNA DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 13 115012591 115012591 T - DEL CDC16 ENST00000494581 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors CDC16 HGNC ENSG00000130177 9 0 0 5 3 37.5 PDS5B 0 genome.wustl.edu 37 13 33344888 33344889 + Frame_Shift_Del DEL AA AA - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 13 33344888 33344889 AA - DEL PDS5B ENST00000315596 human ensembl 74_37 +1 known frame_shift_del c.4161_4162 p.N1390fs 0.002:0.002 NULL superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 12 0 0 24 16 40 NBEA 0 genome.wustl.edu 37 13 35733663 35733663 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 13 35733663 35733663 A - DEL NBEA ENST00000310336 human ensembl 74_37 +1 known frame_shift_del c.3355 p.N1121fs 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 50 0 0 23 16 41.0256 NBEA 0 genome.wustl.edu 37 13 36125104 36125104 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 13 36125104 36125104 A - DEL NBEA ENST00000310336 human ensembl 74_37 +1 known frame_shift_del c.6741 p.V2250fs 0.214 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 58 0 0 38 13 25.4902 SUPT20H 0 genome.wustl.edu 37 13 37599382 37599382 + RNA DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 13 37599382 37599382 A - DEL SUPT20H ENST00000476539 human ensembl 74_37 -1 known rna NULL NULL 0.270 - - - no_errors SUPT20H HGNC ENSG00000102710 47 0 0 29 13 30.9524 EDNRB 0 genome.wustl.edu 37 13 78475267 78475267 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 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 75 0 0 31 16 34.0426 WDR20 0 genome.wustl.edu 37 14 102675067 102675067 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 102675067 102675067 C - DEL WDR20 ENST00000454394 human ensembl 74_37 +1 known frame_shift_del c.653 p.H220fs 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR20 HGNC ENSG00000140153 42 0 0 33 15 31.25 CRIP2 0 genome.wustl.edu 37 14 105944683 105944683 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 105944683 105944683 G - DEL CRIP2 ENST00000329146 human ensembl 74_37 +1 known frame_shift_del c.124 p.G43fs 0.998 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors CRIP2 HGNC ENSG00000182809 16 0 0 16 7 30.4348 ACIN1 0 genome.wustl.edu 37 14 23530746 23530746 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 23530746 23530746 G - DEL ACIN1 ENST00000262710 human ensembl 74_37 -1 known frame_shift_del c.3359 p.P1120fs 0.996 NULL pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom - no_errors ACIN1 HGNC ENSG00000100813 32 0 0 29 5 14.7059 AKAP6 0 genome.wustl.edu 37 14 33015029 33015029 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 33015029 33015029 A - DEL AKAP6 ENST00000280979 human ensembl 74_37 +1 known frame_shift_del c.1170 p.R392fs 0.987 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 104 0 0 63 34 35.0515 MIS18BP1 0 genome.wustl.edu 37 14 45693721 45693722 + Frame_Shift_Ins INS - - T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 45693721 45693722 - T INS MIS18BP1 ENST00000310806 human ensembl 74_37 -1 known frame_shift_ins c.2069_2068 p.S690fs 0.004:0.797 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 154 0 0 74 23 23.7113 OTX2 0 genome.wustl.edu 37 14 57271049 57271049 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 57271049 57271049 G - DEL OTX2 ENST00000339475 human ensembl 74_37 -1 known frame_shift_del c.130 p.R44fs 0.947 superfamily_Homeodomain-like,pfscan_Homeobox_dom pfam_Otx_TF_C,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Otx2_TF,prints_Otx_TF - no_errors OTX2 HGNC ENSG00000165588 92 0 0 48 22 31.4286 ARID4A 0 genome.wustl.edu 37 14 58825910 58825911 + Frame_Shift_Ins INS - - A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 58825910 58825911 - A INS ARID4A ENST00000355431 human ensembl 74_37 +1 known frame_shift_ins c.1914_1915 p.Q640fs 1.000:1.000 superfamily_Chromodomain-like,smart_Chromo_domain/shadow 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 94 0 0 47 8 14.5455 KCNH5 0 genome.wustl.edu 37 14 63174303 63174303 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 63174303 63174303 G - DEL KCNH5 ENST00000322893 human ensembl 74_37 -1 known frame_shift_del c.2890 p.Q964fs 1.000 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 289 0 0 199 40 16.7364 DPF3 0 genome.wustl.edu 37 14 73159844 73159844 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 73159844 73159844 C - DEL DPF3 ENST00000366353 human ensembl 74_37 -1 known frame_shift_del c.847 p.D283fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DPF3 HGNC ENSG00000205683 186 0 0 125 47 27.3256 ENSG00000258891 0 genome.wustl.edu 37 14 74363249 74363249 + RNA DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 74363249 74363249 T - DEL ENSG00000258891 ENST00000554009 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP5-1021I20.5 Clone_based_vega_gene ENSG00000258891 90 0 0 38 14 26.9231 DIO2 0 genome.wustl.edu 37 14 80677760 80677760 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 80677760 80677760 A - DEL DIO2 ENST00000422005 human ensembl 74_37 -1 known frame_shift_del c.56 p.F19fs 1.000 pfam_Iodothyronine_deiodinase pfam_Iodothyronine_deiodinase - no_errors DIO2 HGNC ENSG00000211448 31 0 0 34 13 27.6596 GPR65 0 genome.wustl.edu 37 14 88477555 88477555 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 88477555 88477555 T - DEL GPR65 ENST00000267549 human ensembl 74_37 +1 known frame_shift_del c.364 p.F124fs 0.992 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Psych_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Psych_rcpt,prints_GPCR_Rhodpsn - no_errors GPR65 HGNC ENSG00000140030 261 1 0.381679 139 50 26.455 MOAP1 0 genome.wustl.edu 37 14 93650552 93650552 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 14 93650552 93650552 C - DEL MOAP1 ENST00000298894 human ensembl 74_37 -1 known frame_shift_del c.36 p.M13fs 0.639 NULL NULL - no_errors MOAP1 HGNC ENSG00000165943 207 1 0.480769 163 60 26.9058 OCA2 0 genome.wustl.edu 37 15 28200304 28200305 + Frame_Shift_Ins INS - - T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 28200304 28200305 - T INS OCA2 ENST00000354638 human ensembl 74_37 -1 known frame_shift_ins c.1842_1841 p.H615fs 1.000:1.000 pfam_Cit_transptr-like_dom,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 196 0 0 103 31 23.1343 CHRNA7 0 genome.wustl.edu 37 15 32404035 32404036 + Frame_Shift_Ins INS - - G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 32404035 32404036 - G INS CHRNA7 ENST00000454250 human ensembl 74_37 +1 known frame_shift_ins c.372_373 p.V125fs 0.021:0.969 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel 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 188 0 0 123 12 8.88889 PAK6 0 genome.wustl.edu 37 15 40558255 40558255 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 40558255 40558255 C - DEL PAK6 ENST00000260404 human ensembl 74_37 +1 known frame_shift_del c.417 p.H141fs 0.954 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 15 0 0 14 7 33.3333 UBR1 0 genome.wustl.edu 37 15 43252855 43252855 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 43252855 43252855 T - DEL UBR1 ENST00000290650 human ensembl 74_37 -1 known frame_shift_del c.4745 p.N1582fs 0.838 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC ENSG00000159459 68 0 0 37 12 24.4898 B2M 0 genome.wustl.edu 37 15 45007824 45007825 + Frame_Shift_Ins INS - - C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 45007824 45007825 - C INS B2M ENST00000544417 human ensembl 74_37 +1 known frame_shift_ins c.271_272 p.T93fs 0.816:0.591 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors B2M HGNC ENSG00000166710 137 0 0 78 31 28.4404 SLTM 0 genome.wustl.edu 37 15 59186129 59186129 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 59186129 59186129 T - DEL SLTM ENST00000380516 human ensembl 74_37 -1 known frame_shift_del c.1539 p.E514fs 0.997 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SLTM HGNC ENSG00000137776 65 0 0 39 13 25 NOX5 0 genome.wustl.edu 37 15 69331226 69331226 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 69331226 69331226 T - DEL NOX5 ENST00000388866 human ensembl 74_37 +1 known frame_shift_del c.1401 p.H470fs 0.970 pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NOX5 HGNC ENSG00000255346 221 1 0.45045 92 87 48.6034 LOC645752 0 genome.wustl.edu 37 15 78207401 78207402 + RNA INS - - TTG TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 78207401 78207402 - TTG INS LOC645752 ENST00000563349 human ensembl 74_37 -1 known rna NULL NULL 0.120:0.131 - - - no_errors RP11-114H24.2 Clone_based_vega_gene ENSG00000260776 16 0 0 14 7 33.3333 IREB2 0 genome.wustl.edu 37 15 78777134 78777134 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 78777134 78777134 A - DEL IREB2 ENST00000258886 human ensembl 74_37 +1 known frame_shift_del c.1445 p.K483fs 1.000 pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors IREB2 HGNC ENSG00000136381 56 0 0 30 14 31.8182 AKAP13 0 genome.wustl.edu 37 15 86227941 86227941 + RNA DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 15 86227941 86227941 A - DEL AKAP13 ENST00000558092 human ensembl 74_37 +1 putative rna NULL NULL 0.013 - - - no_errors AKAP13 HGNC ENSG00000170776 46 0 0 32 11 25.5814 NDE1 0 genome.wustl.edu 37 16 15788046 15788046 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 15788046 15788046 C - DEL NDE1 ENST00000396353 human ensembl 74_37 +1 known frame_shift_del c.728 p.L245fs 0.982 pfam_NUDE_C pfam_NUDE_C - no_errors NDE1 HGNC ENSG00000072864 52 0 0 36 10 21.7391 ABCC6P1 0 genome.wustl.edu 37 16 18584280 18584280 + RNA DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 18584280 18584280 C - DEL ABCC6P1 ENST00000546162 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors ABCC6P1 HGNC ENSG00000256340 85 0 0 83 13 13.5417 ENSG00000261312 0 genome.wustl.edu 37 16 19718153 19718153 + RNA DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 19718153 19718153 A - DEL ENSG00000261312 ENST00000565916 human ensembl 74_37 +1 known rna NULL NULL 0.126 - - - no_errors AC002550.5 Clone_based_vega_gene ENSG00000261312 129 0 0 84 60 41.6667 TNRC6A 0 genome.wustl.edu 37 16 24788376 24788381 + In_Frame_Del DEL CAGCAG CAGCAG - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 CAGCAG CAGCAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 24788376 24788381 CAGCAG - DEL TNRC6A ENST00000395799 human ensembl 74_37 +1 known in_frame_del c.286_291 p.QQ99in_frame_del 0.731:0.088:0.099:0.114:0.075:0.064 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 61 0 0 76 21 21.6495 PRRT2 0 genome.wustl.edu 37 16 29825016 29825016 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 29825016 29825016 C - DEL PRRT2 ENST00000567659 human ensembl 74_37 +1 known frame_shift_del c.641 p.R217fs 1.000 NULL pfam_CD225/Dispanin_fam - no_errors PRRT2 HGNC ENSG00000167371 23 0 0 16 8 33.3333 ITGAD 0 genome.wustl.edu 37 16 31422111 31422111 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 31422111 31422111 C - DEL ITGAD ENST00000389202 human ensembl 74_37 +1 known frame_shift_del c.1268 p.R425fs 0.992 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAD HGNC ENSG00000156886 129 0 0 68 34 33.3333 LOC100134368 0 genome.wustl.edu 37 16 436712 436714 + RNA DEL AAA AAA - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 436712 436714 AAA - DEL LOC100134368 ENST00000457760 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001:0.000 - - - no_errors Z97634.3 Clone_based_vega_gene ENSG00000236829 24 0 0 9 2 18.1818 DNAJA2 0 genome.wustl.edu 37 16 47005467 47005468 + Frame_Shift_Del DEL AA AA - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 47005467 47005468 AA - DEL DNAJA2 ENST00000317089 human ensembl 74_37 -1 known frame_shift_del c.156_155 p.F52fs 1.000:1.000 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain pfam_DnaJ_C,pfam_DnaJ_domain,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain - no_errors DNAJA2 HGNC ENSG00000069345 147 0 0 78 44 36.0656 GLYR1 0 genome.wustl.edu 37 16 4862228 4862229 + Frame_Shift_Ins INS - - C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 4862228 4862229 - C INS GLYR1 ENST00000321919 human ensembl 74_37 -1 known frame_shift_ins c.1141_1140 p.R380fs 0.990:0.170 pfam_6PGDH_NADP-bd pfam_6PGDH_NADP-bd,pfam_PWWP_dom,superfamily_6-PGluconate_DH_C-like,smart_PWWP_dom,pfscan_PWWP_dom - no_errors GLYR1 HGNC ENSG00000140632 75 0 0 39 25 39.0625 FHOD1 0 genome.wustl.edu 37 16 67267851 67267852 + Frame_Shift_Ins INS - - G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 67267851 67267852 - G INS FHOD1 ENST00000258201 human ensembl 74_37 -1 known frame_shift_ins c.1755_1754 p.P586fs 0.867:1.000 NULL pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD1 HGNC ENSG00000135723 21 0 0 27 5 15.625 AP1G1 0 genome.wustl.edu 37 16 71803440 71803440 + Splice_Site DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 16 71803440 71803440 A - DEL AP1G1 ENST00000423132 human ensembl 74_37 -1 known splice_site_del c.643-1 e6-1 0.996 - - - no_errors AP1G1 HGNC ENSG00000166747 33 0 0 14 7 33.3333 MPRIP 0 genome.wustl.edu 37 17 17046886 17046886 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 17046886 17046886 C - DEL MPRIP ENST00000395811 human ensembl 74_37 +1 known frame_shift_del c.1052 p.P353fs 0.999 NULL pfam_Pleckstrin_homology,superfamily_Ferritin-like_SF,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors MPRIP HGNC ENSG00000133030 35 0 0 24 10 29.4118 FLCN 0 genome.wustl.edu 37 17 17119709 17119709 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 17119709 17119709 G - DEL FLCN ENST00000285071 human ensembl 74_37 -1 known frame_shift_del c.1285 p.H429fs 1.000 NULL pfam_Folliculin - no_errors FLCN HGNC ENSG00000154803 46 0 0 37 17 31.4815 SPECC1 0 genome.wustl.edu 37 17 20108263 20108263 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 20108263 20108263 A - DEL SPECC1 ENST00000261503 human ensembl 74_37 +1 known frame_shift_del c.901 p.N303fs 0.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 128 0 0 90 61 40.3974 UBBP4 0 genome.wustl.edu 37 17 21731034 21731034 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 21731034 21731034 C - DEL UBBP4 ENST00000578713 human ensembl 74_37 +1 putative frame_shift_del c.336 p.D115fs 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBBP4 HGNC ENSG00000263563 106 0 0 77 10 11.4943 BLMH 0 genome.wustl.edu 37 17 28616399 28616399 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 28616399 28616399 A - DEL BLMH ENST00000261714 human ensembl 74_37 -1 known frame_shift_del c.313 p.W105fs 1.000 pfam_Peptidase_C1B,pirsf_Peptidase_C1B pfam_Peptidase_C1B,pirsf_Peptidase_C1B - no_errors BLMH HGNC ENSG00000108578 39 0 0 18 4 18.1818 EVI2B 0 genome.wustl.edu 37 17 29632034 29632035 + Frame_Shift_Ins INS - - T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 29632034 29632035 - T INS EVI2B ENST00000544462 human ensembl 74_37 -1 known frame_shift_ins c.639_638 p.N213fs 0.000:0.000 NULL NULL - no_errors EVI2B HGNC ENSG00000185862 174 0 0 98 40 28.9855 PIGW 0 genome.wustl.edu 37 17 34893474 34893474 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 34893474 34893474 T - DEL PIGW ENST00000328396 human ensembl 74_37 +1 known frame_shift_del c.524 p.F176fs 1.000 pirsf_GWT1 pfam_GWT1,pirsf_GWT1 - no_errors PIGW HGNC ENSG00000184886 230 0 0 125 46 26.9006 FKBP10 0 genome.wustl.edu 37 17 39969327 39969328 + Frame_Shift_Ins INS - - C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 39969327 39969328 - C INS FKBP10 ENST00000321562 human ensembl 74_37 +1 known frame_shift_ins c.41_42 p.L16fs 0.985:0.990 NULL pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP10 HGNC ENSG00000141756 40 0 0 55 11 16.6667 STAT5B 0 genome.wustl.edu 37 17 40379600 40379600 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 40379600 40379600 C - DEL STAT5B ENST00000293328 human ensembl 74_37 -1 known frame_shift_del c.232 p.E78fs 1.000 pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction 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 96 0 0 72 33 31.4286 ENSG00000266962 0 genome.wustl.edu 37 17 40705710 40705711 + RNA INS - - G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 40705710 40705711 - G INS ENSG00000266962 ENST00000590513 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-400F19.6 Clone_based_vega_gene ENSG00000266962 26 0 0 24 10 29.4118 CCDC43 0 genome.wustl.edu 37 17 42756253 42756253 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 42756253 42756253 T - DEL CCDC43 ENST00000315286 human ensembl 74_37 -1 known frame_shift_del c.646 p.R216fs 1.000 NULL NULL - no_errors CCDC43 HGNC ENSG00000180329 39 0 0 36 8 18.1818 MYBBP1A 0 genome.wustl.edu 37 17 4448203 4448204 + Frame_Shift_Del DEL CT CT - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 4448203 4448204 CT - DEL MYBBP1A ENST00000381556 human ensembl 74_37 -1 known frame_shift_del c.2324_2323 p.S775fs 0.122:0.131 pfam_DNA_pol_V,superfamily_ARM-type_fold pfam_DNA_pol_V,superfamily_ARM-type_fold - no_errors MYBBP1A HGNC ENSG00000132382 27 0 0 27 8 22.8571 ENSG00000248278 0 genome.wustl.edu 37 17 46952263 46952264 + RNA INS - - T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 46952263 46952264 - T INS ENSG00000248278 ENST00000508743 human ensembl 74_37 -1 known rna NULL NULL 0.845:0.923 - - - no_errors RP11-463M16.4 Clone_based_vega_gene ENSG00000248278 49 0 0 37 14 27.451 XYLT2 0 genome.wustl.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 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 123 0 0 94 29 23.5772 RNF43 0 genome.wustl.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 56435161 56435161 C - DEL RNF43 ENST00000407977 human ensembl 74_37 -1 known frame_shift_del c.1976 p.G659fs 0.900 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 222 0 0 87 122 58.3732 TBX4 0 genome.wustl.edu 37 17 59560345 59560345 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 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 45 0 0 37 23 38.3333 GNA13 0 genome.wustl.edu 37 17 63010667 63010667 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 63010667 63010667 A - DEL GNA13 ENST00000439174 human ensembl 74_37 -1 known frame_shift_del c.842 p.F281fs 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su 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_12 - no_errors GNA13 HGNC ENSG00000120063 170 0 0 73 18 19.7802 ABCA5 0 genome.wustl.edu 37 17 67246059 67246059 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 67246059 67246059 A - DEL ABCA5 ENST00000392677 human ensembl 74_37 -1 known frame_shift_del c.4755 p.F1585fs 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 62 0 0 22 7 24.1379 SENP3 0 genome.wustl.edu 37 17 7466956 7466956 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 7466956 7466956 C - DEL SENP3 ENST00000429205 human ensembl 74_37 +1 known frame_shift_del c.563 p.R190fs 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP3 HGNC ENSG00000161956 28 0 0 9 8 47.0588 TNRC6C 0 genome.wustl.edu 37 17 76046980 76046980 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 76046980 76046980 A - DEL TNRC6C ENST00000335749 human ensembl 74_37 +1 known frame_shift_del c.1837 p.N615fs 0.960 NULL pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 120 0 0 73 26 26.2626 CHD3 0 genome.wustl.edu 37 17 7798765 7798765 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 7798765 7798765 C - DEL CHD3 ENST00000330494 human ensembl 74_37 +1 known frame_shift_del c.1612 p.R540fs 0.007 superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_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_HDA_complex_subunit-2/3,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 CHD3 HGNC ENSG00000170004 175 0 0 152 9 5.59006 LOC100294362 0 genome.wustl.edu 37 17 78327661 78327661 + RNA DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 17 78327661 78327661 G - DEL LOC100294362 ENST00000575034 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2047H16.4 Clone_based_vega_gene ENSG00000263069 8 0 0 12 3 20 LAMA3 0 genome.wustl.edu 37 18 21451595 21451595 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 18 21451595 21451595 C - DEL LAMA3 ENST00000313654 human ensembl 74_37 +1 known frame_shift_del c.4968 p.P1658fs 0.998 pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom 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 18 0 0 21 8 27.5862 OSBPL1A 0 genome.wustl.edu 37 18 21745097 21745097 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 18 21745097 21745097 T - DEL OSBPL1A ENST00000319481 human ensembl 74_37 -1 known frame_shift_del c.2682 p.K894fs 0.958 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 232 0 0 121 38 23.8994 NDC80 0 genome.wustl.edu 37 18 2601452 2601452 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 18 2601452 2601452 A - DEL NDC80 ENST00000261597 human ensembl 74_37 +1 known frame_shift_del c.1432 p.M480fs 0.996 superfamily_t-SNARE pfam_Kinetochore_Ndc80,superfamily_t-SNARE - no_errors NDC80 HGNC ENSG00000080986 37 0 0 11 7 38.8889 EPG5 0 genome.wustl.edu 37 18 43459143 43459143 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 18 43459143 43459143 A - DEL EPG5 ENST00000282041 human ensembl 74_37 -1 known frame_shift_del c.5704 p.Y1902fs 1.000 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 107 0 0 70 17 19.5402 SMAD7 0 genome.wustl.edu 37 18 46474795 46474795 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 18 46474795 46474795 G - DEL SMAD7 ENST00000262158 human ensembl 74_37 -1 known frame_shift_del c.626 p.P209fs 1.000 superfamily_SMAD_FHA_domain 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 105 1 0.943396 39 6 13.3333 CXXC1 0 genome.wustl.edu 37 18 47810449 47810449 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 18 47810449 47810449 G - DEL CXXC1 ENST00000412036 human ensembl 74_37 -1 known frame_shift_del c.1240 p.Q414fs 1.000 pfam_CpG-bd_C pfam_CpG-bd_C,pfam_Znf_CXXC,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors CXXC1 HGNC ENSG00000154832 111 0 0 70 30 30 ENSG00000267040 0 genome.wustl.edu 37 18 55335787 55335789 + RNA DEL AAA AAA - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 18 55335787 55335789 AAA - DEL ENSG00000267040 ENST00000592201 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors RP11-35G9.3 Clone_based_vega_gene ENSG00000267040 33 0 0 24 4 14.2857 ALPK2 0 genome.wustl.edu 37 18 56246941 56246941 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 18 56246941 56246941 A - DEL ALPK2 ENST00000361673 human ensembl 74_37 -1 known frame_shift_del c.1067 p.L356fs 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK2 HGNC ENSG00000198796 108 0 0 66 35 34.6535 LMAN1 0 genome.wustl.edu 37 18 57013194 57013194 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 18 57013194 57013194 T - DEL LMAN1 ENST00000251047 human ensembl 74_37 -1 known frame_shift_del c.912 p.E305fs 0.898 superfamily_HMG_box_dom pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_box_dom - no_errors LMAN1 HGNC ENSG00000074695 143 1 0.694444 81 40 33.0579 LMAN1 0 genome.wustl.edu 37 18 57013284 57013285 + Splice_Site INS - - T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 18 57013284 57013285 - T INS LMAN1 ENST00000251047 human ensembl 74_37 -1 known splice_site_ins c.823-2_823-1 e8-1 1.000:1.000 - - - no_errors LMAN1 HGNC ENSG00000074695 121 0 0 94 30 24.1935 SERPINB10 0 genome.wustl.edu 37 18 61584738 61584739 + Frame_Shift_Ins INS - - A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 18 61584738 61584739 - A INS SERPINB10 ENST00000238508 human ensembl 74_37 +1 known frame_shift_ins c.217_218 p.R76fs 0.991:0.998 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB10 HGNC ENSG00000242550 21 0 0 13 7 35 SERPINB8 0 genome.wustl.edu 37 18 61652327 61652328 + Frame_Shift_Ins INS - - A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 18 61652327 61652328 - A INS SERPINB8 ENST00000353706 human ensembl 74_37 +1 known frame_shift_ins c.568_569 p.T193fs 0.996:0.750 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB8 HGNC ENSG00000166401 92 0 0 38 13 25.4902 ZNF236 0 genome.wustl.edu 37 18 74593430 74593430 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 18 74593430 74593430 A - DEL ZNF236 ENST00000253159 human ensembl 74_37 +1 known frame_shift_del c.1373 p.M461fs 0.988 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 90 0 0 93 41 30.597 ZNF236 0 genome.wustl.edu 37 18 74639295 74639295 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 18 74639295 74639295 G - DEL ZNF236 ENST00000253159 human ensembl 74_37 +1 known frame_shift_del c.4230 p.E1412fs 0.299 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 130 0 0 88 38 30.1587 ECSIT 0 genome.wustl.edu 37 19 11618821 11618821 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 11618821 11618821 G - DEL ECSIT ENST00000270517 human ensembl 74_37 -1 known frame_shift_del c.781 p.Q261fs 0.504 pfam_ECSIT pfam_ECSIT - no_errors ECSIT HGNC ENSG00000130159 177 1 0.561798 105 45 30 ZNF20 0 genome.wustl.edu 37 19 12244669 12244670 + Frame_Shift_Ins INS - - CA TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 12244669 12244670 - CA INS ZNF20 ENST00000334213 human ensembl 74_37 -1 known frame_shift_ins c.332_331 p.G111fs 0.713:0.982 smart_Znf_C2H2-like,pfscan_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 ZNF20 HGNC ENSG00000132010 365 0 0 228 77 25.2459 ZNF443 0 genome.wustl.edu 37 19 12541062 12541062 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 12541062 12541062 T - DEL ZNF443 ENST00000301547 human ensembl 74_37 -1 known frame_shift_del c.1924 p.T642fs 0.999 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 ZNF443 HGNC ENSG00000180855 186 0 0 106 19 15.2 CIRBP 0 genome.wustl.edu 37 19 1271433 1271433 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 1271433 1271433 G - DEL CIRBP ENST00000444172 human ensembl 74_37 +1 known frame_shift_del c.157 p.G54fs 0.997 NULL NULL - no_errors CIRBP HGNC ENSG00000099622 275 0 0 149 64 30.0469 FBXW9 0 genome.wustl.edu 37 19 12800973 12800974 + Frame_Shift_Ins INS - - C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 12800973 12800974 - C INS FBXW9 ENST00000380339 human ensembl 74_37 -1 known frame_shift_ins c.925_924 p.P308fs 0.001:0.002 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW9 HGNC ENSG00000132004 33 0 0 34 12 26.087 ASNA1 0 genome.wustl.edu 37 19 12858847 12858848 + Frame_Shift_Ins INS - - G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 12858847 12858848 - G INS ASNA1 ENST00000357332 human ensembl 74_37 +1 known frame_shift_ins c.976_977 p.A328fs 1.000:1.000 pfam_Anion-transp_ATPase-like_dom,superfamily_P-loop_NTPase,tigrfam_ATPase_ArsA/GET3 pfam_Anion-transp_ATPase-like_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,tigrfam_ATPase_ArsA/GET3 - no_errors ASNA1 HGNC ENSG00000198356 107 0 0 89 27 23.2759 PKN1 0 genome.wustl.edu 37 19 14562741 14562741 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 14562741 14562741 C - DEL PKN1 ENST00000342216 human ensembl 74_37 +1 known frame_shift_del c.1089 p.F366fs 0.060 superfamily_C2_dom 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_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN1 HGNC ENSG00000123143 40 0 0 22 7 24.1379 REXO1 0 genome.wustl.edu 37 19 1827647 1827647 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 1827647 1827647 T - DEL REXO1 ENST00000170168 human ensembl 74_37 -1 known frame_shift_del c.1141 p.T381fs 0.001 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1 HGNC ENSG00000079313 41 0 0 31 13 29.5455 C19orf12 0 genome.wustl.edu 37 19 30193594 30193594 + RNA DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 30193594 30193594 C - DEL C19orf12 ENST00000392275 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C19orf12 HGNC ENSG00000131943 76 0 0 59 16 21.3333 TSHZ3 0 genome.wustl.edu 37 19 31769142 31769142 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 31769142 31769142 C - DEL TSHZ3 ENST00000240587 human ensembl 74_37 -1 known frame_shift_del c.1557 p.D521fs 0.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 236 0 0 135 59 30.4124 TSHZ3 0 genome.wustl.edu 37 19 31770237 31770238 + In_Frame_Ins INS - - CTG TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 31770237 31770238 - CTG INS TSHZ3 ENST00000240587 human ensembl 74_37 -1 known in_frame_ins c.462_461 p.158in_frame_insS 1.000:1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 27 0 0 35 7 16.6667 KMT2B 0 genome.wustl.edu 37 19 36215931 36215935 + Frame_Shift_Del DEL CTGGA CTGGA - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 CTGGA CTGGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 36215931 36215935 CTGGA - DEL KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_del c.3471_3475 p.T1159fs 1.000:1.000:1.000:1.000:1.000 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 120 0 0 25 17 40.4762 PIP5K1C 0 genome.wustl.edu 37 19 3648643 3648645 + In_Frame_Del DEL GAT GAT - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 GAT GAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 3648643 3648645 GAT - DEL PIP5K1C ENST00000537021 human ensembl 74_37 -1 known in_frame_del c.1191_1189 p.I397in_frame_del 0.633:0.998:1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1C HGNC ENSG00000186111 129 0 0 108 33 23.4043 ZNF540 0 genome.wustl.edu 37 19 38103018 38103018 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 38103018 38103018 T - DEL ZNF540 ENST00000316433 human ensembl 74_37 +1 known frame_shift_del c.837 p.F281fs 0.001 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 ZNF540 HGNC ENSG00000171817 53 0 0 20 10 33.3333 HNRNPL 0 genome.wustl.edu 37 19 39330959 39330959 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 39330959 39330959 G - DEL HNRNPL ENST00000221419 human ensembl 74_37 -1 known frame_shift_del c.1010 p.P337fs 1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRNPL HGNC ENSG00000104824 28 0 0 25 6 19.3548 NUMBL 0 genome.wustl.edu 37 19 41183178 41183178 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 41183178 41183178 C - DEL NUMBL ENST00000252891 human ensembl 74_37 -1 known frame_shift_del c.689 p.G230fs 1.000 pirsf_Numb/numb-like 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 20 0 0 19 11 36.6667 EXOC3L2 0 genome.wustl.edu 37 19 45716496 45716496 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 45716496 45716496 G - DEL EXOC3L2 ENST00000252482 human ensembl 74_37 -1 known frame_shift_del c.1061 p.P354fs 0.365 NULL pfam_Sec6,superfamily_Tet_transcr_reg_TetR-rel_C - no_errors EXOC3L2 HGNC ENSG00000130201 54 0 0 32 8 20 FOXA3 0 genome.wustl.edu 37 19 46375988 46375988 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 46375988 46375988 C - DEL FOXA3 ENST00000302177 human ensembl 74_37 +1 known frame_shift_del c.725 p.A244fs 0.049 NULL pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA3 HGNC ENSG00000170608 17 0 0 14 7 33.3333 ENSG00000205790 0 genome.wustl.edu 37 19 4682879 4682880 + RNA DEL AG AG - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 4682879 4682880 AG - DEL ENSG00000205790 ENST00000381796 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.006 - - - no_errors AC005594.3 Clone_based_vega_gene ENSG00000205790 15 0 0 11 4 26.6667 MIR498 0 genome.wustl.edu 37 19 54177457 54177457 + RNA DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 54177457 54177457 C - DEL MIR498 ENST00000385134 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors MIR498 HGNC ENSG00000207869 144 0 0 144 11 7.09677 VSTM1 0 genome.wustl.edu 37 19 54544249 54544249 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 54544249 54544249 G - DEL VSTM1 ENST00000338372 human ensembl 74_37 -1 known frame_shift_del c.677 p.P226fs 0.005 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM1 HGNC ENSG00000189068 49 0 0 33 10 23.2558 ENSG00000267865 0 genome.wustl.edu 37 19 56220431 56220431 + RNA DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 56220431 56220431 T - DEL ENSG00000267865 ENST00000596293 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2611O12.8 Clone_based_vega_gene ENSG00000267865 43 0 0 16 4 20 SNAPC2 0 genome.wustl.edu 37 19 7987213 7987213 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 7987213 7987213 C - DEL SNAPC2 ENST00000221573 human ensembl 74_37 +1 known frame_shift_del c.666 p.E224fs 0.005 pfam_SnAPC_su2-like pfam_SnAPC_su2-like - no_errors SNAPC2 HGNC ENSG00000104976 139 0 0 94 37 28.2443 MUC16 0 genome.wustl.edu 37 19 9059156 9059157 + Frame_Shift_Ins INS - - T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 9059156 9059157 - T INS MUC16 ENST00000397910 human ensembl 74_37 -1 known frame_shift_ins c.28290_28289 p.N9430fs 0.003:0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 139 0 0 115 47 29.0123 MUC16 0 genome.wustl.edu 37 19 9076020 9076020 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 19 9076020 9076020 T - DEL MUC16 ENST00000397910 human ensembl 74_37 -1 known frame_shift_del c.11426 p.K3809fs 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 325 0 0 194 81 29.4545 SLC35F5 0 genome.wustl.edu 37 2 114500277 114500278 + Frame_Shift_Del DEL AA AA - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 114500277 114500278 AA - DEL SLC35F5 ENST00000245680 human ensembl 74_37 -1 known frame_shift_del c.742_741 p.F247fs 1.000:1.000 pfam_DMT pfam_DMT - no_errors SLC35F5 HGNC ENSG00000115084 119 1 0.833333 54 41 43.1579 GREB1 0 genome.wustl.edu 37 2 11706699 11706699 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 11706699 11706699 C - DEL GREB1 ENST00000234142 human ensembl 74_37 +1 known frame_shift_del c.371 p.S126fs 1.000 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 156 0 0 93 38 29.0076 SMPD4 0 genome.wustl.edu 37 2 130921967 130921967 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 130921967 130921967 T - DEL SMPD4 ENST00000409031 human ensembl 74_37 -1 known frame_shift_del c.961 p.M321fs 0.991 NULL NULL - no_errors SMPD4 HGNC ENSG00000136699 94 0 0 63 13 17.1053 LRP1B 0 genome.wustl.edu 37 2 141032033 141032034 + Frame_Shift_Ins INS - - C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 141032033 141032034 - C INS LRP1B ENST00000389484 human ensembl 74_37 -1 known frame_shift_ins c.13102_13101 p.H4367fs 0.999:0.016 smart_EG-like_dom 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 112 0 0 55 19 25.6757 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 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 127 0 0 39 54 58.0645 GALNT5 0 genome.wustl.edu 37 2 158152992 158152993 + Frame_Shift_Ins INS - - A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 158152992 158152993 - A INS GALNT5 ENST00000259056 human ensembl 74_37 +1 known frame_shift_ins c.1964_1965 p.N657fs 1.000:1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT5 HGNC ENSG00000136542 63 0 0 27 7 20.5882 DPP4 0 genome.wustl.edu 37 2 162891779 162891780 + Frame_Shift_Ins INS - - A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 162891779 162891780 - A INS DPP4 ENST00000360534 human ensembl 74_37 -1 known frame_shift_ins c.669_668 p.L223fs 1.000:1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP4 HGNC ENSG00000197635 85 0 0 50 21 29.5775 IFIH1 0 genome.wustl.edu 37 2 163134716 163134716 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 163134716 163134716 T - DEL IFIH1 ENST00000263642 human ensembl 74_37 -1 known frame_shift_del c.1764 p.A589fs 1.000 superfamily_P-loop_NTPase,superfamily_ARM-type_fold pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors IFIH1 HGNC ENSG00000115267 45 0 0 18 7 28 NCKAP1 0 genome.wustl.edu 37 2 183806893 183806894 + Splice_Site INS - - A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 183806893 183806894 - A INS NCKAP1 ENST00000360982 human ensembl 74_37 -1 known splice_site_ins c.2620-3_2620-2 e25-2 0.999:0.019 - - - no_errors NCKAP1 HGNC ENSG00000061676 90 0 0 37 23 38.3333 ITGAV 0 genome.wustl.edu 37 2 187521085 187521085 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 187521085 187521085 G - DEL ITGAV ENST00000261023 human ensembl 74_37 +1 known frame_shift_del c.1676 p.G561fs 0.609 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ENSG00000138448 216 0 0 188 64 25.3968 NT5C1B 0 genome.wustl.edu 37 2 18765869 18765871 + In_Frame_Del DEL GCT GCT - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 18765869 18765871 GCT - DEL NT5C1B ENST00000359846 human ensembl 74_37 -1 known in_frame_del c.814_812 p.Q271in_frame_del 0.009:0.011:0.004 NULL pfam_5-nucleotidase - no_errors NT5C1B HGNC ENSG00000185013 23 0 0 32 4 11.1111 SGOL2 0 genome.wustl.edu 37 2 201436992 201436992 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 201436992 201436992 A - DEL SGOL2 ENST00000357799 human ensembl 74_37 +1 known frame_shift_del c.1923 p.G644fs 0.002 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 138 0 0 93 29 23.7705 PARD3B 0 genome.wustl.edu 37 2 206166298 206166298 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 206166298 206166298 A - DEL PARD3B ENST00000406610 human ensembl 74_37 +1 known frame_shift_del c.2503 p.T837fs 0.996 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 85 0 0 35 18 33.9623 ZDBF2 0 genome.wustl.edu 37 2 207174428 207174428 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 207174428 207174428 A - DEL ZDBF2 ENST00000374423 human ensembl 74_37 +1 known frame_shift_del c.5176 p.K1728fs 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 48 0 0 42 15 26.3158 ERBB4 0 genome.wustl.edu 37 2 212248737 212248737 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 212248737 212248737 T - DEL ERBB4 ENST00000342788 human ensembl 74_37 -1 known frame_shift_del c.3530 p.N1177fs 1.000 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_Prot_kinase_dom,pfam_Furin-like_Cys-rich_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 ERBB4 HGNC ENSG00000178568 121 0 0 74 24 24.4898 TNS1 0 genome.wustl.edu 37 2 218712887 218712889 + In_Frame_Del DEL GCT GCT - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 218712887 218712889 GCT - DEL TNS1 ENST00000171887 human ensembl 74_37 -1 known in_frame_del c.1978_1976 p.Q659in_frame_del 1.000:1.000:0.994 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_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 30 0 0 40 20 33.3333 SPEG 0 genome.wustl.edu 37 2 220348798 220348798 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 220348798 220348798 C - DEL SPEG ENST00000312358 human ensembl 74_37 +1 novel frame_shift_del c.6613 p.A2207fs 0.851 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 SPEG HGNC ENSG00000072195 74 0 0 59 21 26.25 SP140 0 genome.wustl.edu 37 2 231159025 231159025 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 231159025 231159025 A - DEL SP140 ENST00000392045 human ensembl 74_37 +1 known frame_shift_del c.2008 p.K672fs 0.001 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,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,pfscan_Bromodomain - no_errors SP140 HGNC ENSG00000079263 47 0 0 21 12 36.3636 DNAJB3 0 genome.wustl.edu 37 2 234652187 234652188 + RNA INS - - C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 234652187 234652188 - C INS DNAJB3 ENST00000449667 human ensembl 74_37 -1 known rna NULL NULL 0.050:0.014 - - - no_errors DNAJB3 HGNC ENSG00000227802 63 0 0 50 12 19.3548 AGXT 0 genome.wustl.edu 37 2 241808307 241808308 + Frame_Shift_Ins INS - - C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 241808307 241808308 - C INS AGXT ENST00000307503 human ensembl 74_37 +1 known frame_shift_ins c.25_26 p.K12fs 0.000:0.001 superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase - no_errors AGXT HGNC ENSG00000172482 32 0 0 33 8 19.5122 MTERFD2 0 genome.wustl.edu 37 2 242027865 242027866 + RNA INS - - G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 242027865 242027866 - G INS MTERFD2 ENST00000455202 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors MTERFD2 HGNC ENSG00000122085 56 0 0 56 18 24.3243 ING5 0 genome.wustl.edu 37 2 242650917 242650917 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 242650917 242650917 T - DEL ING5 ENST00000445620 human ensembl 74_37 +1 known frame_shift_del c.402 p.S137fs 0.000 NULL NULL - no_errors ING5 HGNC ENSG00000168395 123 0 0 44 23 34.3284 TRAPPC12 0 genome.wustl.edu 37 2 3405588 3405588 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 3405588 3405588 A - DEL TRAPPC12 ENST00000324266 human ensembl 74_37 +1 known frame_shift_del c.1088 p.A365fs 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TRAPPC12 HGNC ENSG00000171853 162 0 0 87 45 34.0909 RMDN2 0 genome.wustl.edu 37 2 38178783 38178783 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 38178783 38178783 T - DEL RMDN2 ENST00000234195 human ensembl 74_37 +1 known frame_shift_del c.425 p.F144fs 0.000 NULL NULL - no_errors RMDN2 HGNC ENSG00000115841 78 0 0 52 18 25.7143 ZFP36L2 0 genome.wustl.edu 37 2 43452037 43452039 + In_Frame_Del DEL GGA GGA - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 43452037 43452039 GGA - DEL ZFP36L2 ENST00000282388 human ensembl 74_37 -1 known in_frame_del c.906_904 p.S302in_frame_del 0.086:0.198:0.196 NULL pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L2 HGNC ENSG00000152518 18 0 0 30 11 26.8293 RHOQ 0 genome.wustl.edu 37 2 46808174 46808174 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 46808174 46808174 A - DEL RHOQ ENST00000238738 human ensembl 74_37 +1 known frame_shift_del c.570 p.R193fs 1.000 NULL 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 RHOQ HGNC ENSG00000119729 80 0 0 39 16 29.0909 SOX11 0 genome.wustl.edu 37 2 5833526 5833528 + In_Frame_Del DEL GAC GAC - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 GAC GAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 5833526 5833528 GAC - DEL SOX11 ENST00000322002 human ensembl 74_37 +1 known in_frame_del c.673_675 p.D228in_frame_del 1.000:1.000:0.999 pirsf_SOX-12/11/4a pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom - no_errors SOX11 HGNC ENSG00000176887 28 0 0 23 3 11.5385 ATP6V1B1 0 genome.wustl.edu 37 2 71191573 71191573 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 71191573 71191573 C - DEL ATP6V1B1 ENST00000234396 human ensembl 74_37 +1 known frame_shift_del c.1149 p.I386fs 0.999 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_P-loop_NTPase,tigrfam_ATPase_V1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B1 HGNC ENSG00000116039 116 0 0 78 15 16.129 TPRKB 0 genome.wustl.edu 37 2 73957881 73957881 + RNA DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 73957881 73957881 A - DEL TPRKB ENST00000485758 human ensembl 74_37 -1 putative rna NULL NULL 0.004 - - - no_errors TPRKB HGNC ENSG00000144034 31 0 0 10 13 56.5217 WBP1 0 genome.wustl.edu 37 2 74687410 74687410 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 74687410 74687410 C - DEL WBP1 ENST00000233615 human ensembl 74_37 +1 known frame_shift_del c.412 p.P140fs 0.993 pfam_Uncharacterised_WW-bd pfam_Uncharacterised_WW-bd - no_errors WBP1 HGNC ENSG00000239779 226 0 0 139 66 32.1951 FAHD2CP 0 genome.wustl.edu 37 2 96687157 96687157 + RNA DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 96687157 96687157 C - DEL FAHD2CP ENST00000443258 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors FAHD2CP HGNC ENSG00000231584 21 0 0 14 6 30 TAF1B 0 genome.wustl.edu 37 2 9989571 9989571 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 2 9989571 9989571 A - DEL TAF1B ENST00000263663 human ensembl 74_37 +1 known frame_shift_del c.187 p.N66fs 0.991 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 15 0 0 6 3 33.3333 DSTN 0 genome.wustl.edu 37 20 17581680 17581680 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 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 74 0 0 51 16 23.8806 CD93 0 genome.wustl.edu 37 20 23066469 23066469 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 23066469 23066469 C - DEL CD93 ENST00000246006 human ensembl 74_37 -1 known frame_shift_del c.361 p.E121fs 0.689 pirsf_CD93/CD141,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin 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 14 0 0 10 13 56.5217 PCED1A 0 genome.wustl.edu 37 20 2816204 2816204 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 2816204 2816204 C - DEL PCED1A ENST00000360652 human ensembl 74_37 -1 known frame_shift_del c.1269 p.C425fs 0.001 NULL NULL - no_errors PCED1A HGNC ENSG00000132635 79 0 0 62 24 27.907 HM13 0 genome.wustl.edu 37 20 30142485 30142487 + RNA DEL AAA AAA - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 30142485 30142487 AAA - DEL HM13 ENST00000474466 human ensembl 74_37 +1 known rna NULL NULL 0.172:0.159:0.155 - - - no_errors HM13 HGNC ENSG00000101294 20 0 0 19 11 36.6667 CHMP4B 0 genome.wustl.edu 37 20 32399335 32399336 + Frame_Shift_Ins INS - - C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 32399335 32399336 - C INS CHMP4B ENST00000217402 human ensembl 74_37 +1 known frame_shift_ins c.61_62 p.Q23fs 1.000:1.000 NULL pfam_Snf7 - no_errors CHMP4B HGNC ENSG00000101421 20 0 0 14 8 36.3636 TSHZ2 0 genome.wustl.edu 37 20 51872444 51872445 + Frame_Shift_Ins INS - - C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 51872444 51872445 - C INS TSHZ2 ENST00000371497 human ensembl 74_37 +1 known frame_shift_ins c.2447_2448 p.M819fs 1.000:1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 133 0 0 100 10 9.09091 ZNF217 0 genome.wustl.edu 37 20 52193226 52193226 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 52193226 52193226 C - DEL ZNF217 ENST00000302342 human ensembl 74_37 -1 known frame_shift_del c.2077 p.A693fs 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ENSG00000171940 179 0 0 110 24 17.9104 STX16-NPEPL1 0 genome.wustl.edu 37 20 57244434 57244436 + In_Frame_Del DEL GTG GTG - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 GTG GTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 57244434 57244436 GTG - DEL STX16-NPEPL1 ENST00000530122 human ensembl 74_37 +1 known in_frame_del c.481_483 p.V162in_frame_del 1.000:1.000:1.000 pfam_Syntaxin_N,superfamily_t-SNARE pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX16-NPEPL1 HGNC ENSG00000254995 34 0 0 36 8 18.1818 ZNF831 0 genome.wustl.edu 37 20 57766219 57766220 + Frame_Shift_Ins INS - - C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 57766219 57766220 - C INS ZNF831 ENST00000371030 human ensembl 74_37 +1 novel frame_shift_ins c.145_146 p.T52fs 0.658:0.643 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 53 0 0 46 20 30.303 SYCP2 0 genome.wustl.edu 37 20 58467047 58467047 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 20 58467047 58467047 T - DEL SYCP2 ENST00000357552 human ensembl 74_37 -1 known frame_shift_del c.2362 p.M788fs 0.029 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 43 0 0 18 13 41.9355 WRB 0 genome.wustl.edu 37 21 40768975 40768975 + RNA DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 21 40768975 40768975 T - DEL WRB ENST00000466787 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors WRB HGNC ENSG00000182093 16 0 0 7 4 36.3636 POFUT2 0 genome.wustl.edu 37 21 46705817 46705817 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 21 46705817 46705817 G - DEL POFUT2 ENST00000349485 human ensembl 74_37 -1 known frame_shift_del c.158 p.P53fs 0.992 pfam_GDP-Fuc_O-FucTrfase pfam_GDP-Fuc_O-FucTrfase,superfamily_DUF749 - no_errors POFUT2 HGNC ENSG00000186866 160 0 0 124 12 8.82353 TBX1 0 genome.wustl.edu 37 22 19754189 19754190 + Frame_Shift_Ins INS - - A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 19754189 19754190 - A INS TBX1 ENST00000332710 human ensembl 74_37 +1 putative frame_shift_ins c.1287_1288 p.S430fs 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 TBX1 HGNC ENSG00000184058 32 0 0 26 9 25.7143 SMARCB1 0 genome.wustl.edu 37 22 24134057 24134057 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 24134057 24134057 A - DEL SMARCB1 ENST00000263121 human ensembl 74_37 +1 known frame_shift_del c.208 p.T72fs 1.000 pirsf_SWI_SNF_chromatin_remodel_cplx pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx - no_errors SMARCB1 HGNC ENSG00000099956 122 0 0 67 23 25.5556 SFI1 0 genome.wustl.edu 37 22 31998270 31998271 + Frame_Shift_Del DEL AG AG - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 31998270 31998271 AG - DEL SFI1 ENST00000400288 human ensembl 74_37 +1 known frame_shift_del c.1617_1618 p.R541fs 0.982:1.000 NULL superfamily_Cyclin-like - no_errors SFI1 HGNC ENSG00000198089 142 0 0 55 21 27.6316 C22orf24 0 genome.wustl.edu 37 22 32334104 32334105 + Frame_Shift_Ins INS - - A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 32334104 32334105 - A INS C22orf24 ENST00000543051 human ensembl 74_37 -1 known frame_shift_ins c.150_149 p.S51fs 0.001:0.000 NULL NULL - no_errors C22orf24 HGNC ENSG00000128254 175 1 0.568182 99 23 18.8525 DDX17 0 genome.wustl.edu 37 22 38897211 38897211 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 38897211 38897211 T - DEL DDX17 ENST00000396821 human ensembl 74_37 -1 known frame_shift_del c.362 p.K121fs 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 DDX17 HGNC ENSG00000100201 63 0 0 24 10 29.4118 MKL1 0 genome.wustl.edu 37 22 40816542 40816542 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 40816542 40816542 G - DEL MKL1 ENST00000355630 human ensembl 74_37 -1 known frame_shift_del c.920 p.P307fs 0.025 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL1 HGNC ENSG00000196588 149 0 0 128 10 7.24638 FAM109B 0 genome.wustl.edu 37 22 42473377 42473377 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 42473377 42473377 G - DEL FAM109B ENST00000321753 human ensembl 74_37 +1 known frame_shift_del c.80 p.G29fs 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FAM109B HGNC ENSG00000177096 139 0 0 104 42 28.7671 CPT1B 0 genome.wustl.edu 37 22 51014627 51014628 + Frame_Shift_Del DEL AT AT - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 22 51014627 51014628 AT - DEL CPT1B ENST00000312108 human ensembl 74_37 -1 known frame_shift_del c.699_698 p.Y233fs 1.000:1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1B HGNC ENSG00000205560 84 0 0 51 19 27.1429 TOMM70A 0 genome.wustl.edu 37 3 100119688 100119689 + Frame_Shift_Ins INS - - C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 100119688 100119689 - C INS TOMM70A ENST00000284320 human ensembl 74_37 -1 known frame_shift_ins c.106_105 p.L35fs 1.000:0.998 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TOMM70A HGNC ENSG00000154174 8 0 0 10 3 23.0769 PHLDB2 0 genome.wustl.edu 37 3 111664163 111664163 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 111664163 111664163 G - DEL PHLDB2 ENST00000393925 human ensembl 74_37 +1 known frame_shift_del c.2446 p.820fs 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 80 0 0 29 16 35.5556 ZBTB20 0 genome.wustl.edu 37 3 114058003 114058004 + Frame_Shift_Del DEL GG GG - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 114058003 114058004 GG - DEL ZBTB20 ENST00000474710 human ensembl 74_37 -1 known frame_shift_del c.2075_2074 p.P692fs 0.678:0.986 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 94 0 0 70 23 24.7312 GOLGB1 0 genome.wustl.edu 37 3 121409851 121409852 + Frame_Shift_Del DEL TC TC - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 121409851 121409852 TC - DEL GOLGB1 ENST00000340645 human ensembl 74_37 -1 known frame_shift_del c.8345_8344 p.D2782fs 0.003:0.001 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 93 0 0 74 6 7.5 CNTN6 0 genome.wustl.edu 37 3 1414122 1414122 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 1414122 1414122 A - DEL CNTN6 ENST00000350110 human ensembl 74_37 +1 known frame_shift_del c.1632 p.G547fs 0.311 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,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 81 0 0 37 14 27.451 GK5 0 genome.wustl.edu 37 3 141923491 141923492 + Frame_Shift_Ins INS - - A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 141923491 141923492 - A INS GK5 ENST00000487672 human ensembl 74_37 -1 known frame_shift_ins c.457_456 p.L152fs 0.000:0.000 NULL pfam_Carb_kinase_FGGY_N - no_errors GK5 HGNC ENSG00000175066 48 0 0 38 11 22.449 XRN1 0 genome.wustl.edu 37 3 142142409 142142409 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 142142409 142142409 T - DEL XRN1 ENST00000264951 human ensembl 74_37 -1 known frame_shift_del c.703 p.T235fs 0.869 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 76 0 0 33 5 13.1579 NR2C2 0 genome.wustl.edu 37 3 15084406 15084406 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 15084406 15084406 T - DEL NR2C2 ENST00000323373 human ensembl 74_37 +1 known frame_shift_del c.1739 p.F582fs 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C2 HGNC ENSG00000177463 64 0 0 42 16 27.5862 MED12L 0 genome.wustl.edu 37 3 151078324 151078324 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 151078324 151078324 T - DEL MED12L ENST00000474524 human ensembl 74_37 +1 known frame_shift_del c.2783 p.L929fs 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 257 0 0 151 50 24.8756 IGSF10 0 genome.wustl.edu 37 3 151171553 151171553 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 151171553 151171553 T - DEL IGSF10 ENST00000282466 human ensembl 74_37 -1 known frame_shift_del c.334 p.M112fs 1.000 smart_Leu-rich_rpt_typical-subtyp 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 100 0 0 63 25 28.4091 VEPH1 0 genome.wustl.edu 37 3 157081227 157081227 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 157081227 157081227 T - DEL VEPH1 ENST00000362010 human ensembl 74_37 -1 known frame_shift_del c.1661 p.N554fs 1.000 NULL pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors VEPH1 HGNC ENSG00000197415 193 1 0.515464 110 20 15.3846 NLGN1 0 genome.wustl.edu 37 3 173996895 173996895 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 173996895 173996895 C - DEL NLGN1 ENST00000401917 human ensembl 74_37 +1 known frame_shift_del c.1224 p.Q410fs 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 237 0 0 110 43 28.1046 MIR128-2 0 genome.wustl.edu 37 3 35786001 35786002 + RNA DEL GA GA - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 35786001 35786002 GA - DEL MIR128-2 ENST00000384893 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors MIR128-2 HGNC ENSG00000207625 49 0 0 28 14 33.3333 PLXNB1 0 genome.wustl.edu 37 3 48455444 48455446 + In_Frame_Del DEL CCT CCT - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 48455444 48455446 CCT - DEL PLXNB1 ENST00000296440 human ensembl 74_37 -1 known in_frame_del c.4246_4244 p.E1415in_frame_del 1.000:1.000:1.000 NULL 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 PLXNB1 HGNC ENSG00000164050 87 0 0 60 32 34.7826 COL7A1 0 genome.wustl.edu 37 3 48624754 48624754 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 48624754 48624754 G - DEL COL7A1 ENST00000328333 human ensembl 74_37 -1 known frame_shift_del c.3008 p.P1003fs 0.761 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 18 0 0 15 10 40 RBM5 0 genome.wustl.edu 37 3 50144924 50144924 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 50144924 50144924 C - DEL RBM5 ENST00000347869 human ensembl 74_37 +1 known frame_shift_del c.963 p.L322fs 0.998 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM5 HGNC ENSG00000003756 100 0 0 64 24 27.2727 DOCK3 0 genome.wustl.edu 37 3 51417604 51417604 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 51417604 51417604 C - DEL DOCK3 ENST00000266037 human ensembl 74_37 +1 known frame_shift_del c.5549 p.P1852fs 0.115 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 86 0 0 29 28 49.1228 GNL3 0 genome.wustl.edu 37 3 52720836 52720836 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 52720836 52720836 A - DEL GNL3 ENST00000418458 human ensembl 74_37 +1 known frame_shift_del c.65 p.K24fs 1.000 pfam_Gnl3_N_dom pfam_Gnl3_N_dom,pfam_GTP_binding_domain,superfamily_P-loop_NTPase - no_errors GNL3 HGNC ENSG00000163938 51 0 0 30 6 16.6667 HESX1 0 genome.wustl.edu 37 3 57232250 57232250 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 57232250 57232250 T - DEL HESX1 ENST00000295934 human ensembl 74_37 -1 known frame_shift_del c.533 p.N178fs 0.997 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HESX1 HGNC ENSG00000163666 71 0 0 28 10 26.3158 RAD18 0 genome.wustl.edu 37 3 8944121 8944121 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 8944121 8944121 T - DEL RAD18 ENST00000264926 human ensembl 74_37 -1 known frame_shift_del c.1111 p.T371fs 0.000 NULL pfam_SAP_dom,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_Rad18_put,smart_SAP_dom,pfscan_Znf_RING,pfscan_SAP_dom - no_errors RAD18 HGNC ENSG00000070950 58 0 0 34 13 27.6596 IL17RC 0 genome.wustl.edu 37 3 9958948 9958948 + RNA DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 3 9958948 9958948 G - DEL IL17RC ENST00000498214 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors IL17RC HGNC ENSG00000163702 13 0 0 23 4 14.8148 COL25A1 0 genome.wustl.edu 37 4 109767322 109767322 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 109767322 109767322 T - DEL COL25A1 ENST00000399132 human ensembl 74_37 -1 known frame_shift_del c.1488 p.G497fs 1.000 pfam_Collagen pfam_Collagen - no_errors COL25A1 HGNC ENSG00000188517 167 0 0 60 24 28.5714 UGT8 0 genome.wustl.edu 37 4 115597234 115597234 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 115597234 115597234 T - DEL UGT8 ENST00000310836 human ensembl 74_37 +1 known frame_shift_del c.1416 p.L474fs 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT8 HGNC ENSG00000174607 154 0 0 75 39 34.2105 QRFPR 0 genome.wustl.edu 37 4 122250740 122250740 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 122250740 122250740 T - DEL QRFPR ENST00000394427 human ensembl 74_37 -1 known frame_shift_del c.1025 p.N342fs 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_NPY_rcpt,prints_NPFF_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors QRFPR HGNC ENSG00000186867 72 0 0 29 14 32.5581 ANKRD50 0 genome.wustl.edu 37 4 125590698 125590699 + Frame_Shift_Del DEL CT CT - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 125590698 125590699 CT - DEL ANKRD50 ENST00000504087 human ensembl 74_37 -1 known frame_shift_del c.3734_3733 p.H1246fs 1.000:1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC ENSG00000151458 309 0 0 180 74 29.1339 HHIP 0 genome.wustl.edu 37 4 145628239 145628239 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 145628239 145628239 A - DEL HHIP ENST00000296575 human ensembl 74_37 +1 known frame_shift_del c.984 p.N330fs 0.982 superfamily_Quinoprot_gluc/sorb_DH pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HHIP HGNC ENSG00000164161 84 0 0 46 10 17.8571 BST1 0 genome.wustl.edu 37 4 15717330 15717330 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 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 39 0 0 30 14 31.8182 CLCN3 0 genome.wustl.edu 37 4 170618378 170618379 + Frame_Shift_Ins INS - - T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 170618378 170618379 - T INS CLCN3 ENST00000347613 human ensembl 74_37 +1 known frame_shift_ins c.1056_1057 p.A354fs 0.981:1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-3 - no_errors CLCN3 HGNC ENSG00000109572 106 0 0 53 25 32.0513 UFSP2 0 genome.wustl.edu 37 4 186336370 186336370 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 186336370 186336370 T - DEL UFSP2 ENST00000264689 human ensembl 74_37 -1 known frame_shift_del c.623 p.N208fs 0.013 NULL pfam_Peptidase_C78_UfSP1/2 - no_errors UFSP2 HGNC ENSG00000109775 88 0 0 42 20 32.2581 DHX15 0 genome.wustl.edu 37 4 24550501 24550502 + Frame_Shift_Ins INS - - T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 24550501 24550502 - T INS DHX15 ENST00000336812 human ensembl 74_37 -1 known frame_shift_ins c.1225_1224 p.Q408fs 1.000:1.000 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 DHX15 HGNC ENSG00000109606 63 0 0 44 11 20 ADD1 0 genome.wustl.edu 37 4 2930187 2930188 + In_Frame_Ins INS - - AAG TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 2930187 2930188 - AAG INS ADD1 ENST00000264758 human ensembl 74_37 +1 known in_frame_ins c.2244_2245 p.752in_frame_insK 0.964:1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD1 HGNC ENSG00000087274 212 0 0 166 65 28.1385 GRK4 0 genome.wustl.edu 37 4 3040280 3040282 + RNA DEL AAA AAA - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 3040280 3040282 AAA - DEL GRK4 ENST00000504308 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.003:0.005 - - - no_errors GRK4 HGNC ENSG00000125388 50 0 0 19 10 34.4828 RGS12 0 genome.wustl.edu 37 4 3430399 3430399 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 3430399 3430399 A - DEL RGS12 ENST00000344733 human ensembl 74_37 +1 known frame_shift_del c.3526 p.K1178fs 1.000 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 89 0 0 40 18 31.0345 RGS12 0 genome.wustl.edu 37 4 3432430 3432431 + Frame_Shift_Ins INS - - C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 3432430 3432431 - C INS RGS12 ENST00000344733 human ensembl 74_37 +1 known frame_shift_ins c.3862_3863 p.G1291fs 0.000:0.000 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 19 0 0 14 9 39.1304 KLF3 0 genome.wustl.edu 37 4 38691476 38691476 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 38691476 38691476 C - DEL KLF3 ENST00000261438 human ensembl 74_37 +1 known frame_shift_del c.671 p.P226fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 199 0 0 152 36 19.1489 ENSG00000253917 0 genome.wustl.edu 37 4 3925797 3925797 + Splice_Site DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 3925797 3925797 C - DEL ENSG00000253917 ENST00000514073 human ensembl 74_37 -1 known splice_site_del c.NULL NULL 0.998 - - - no_errors AC226119.5 Clone_based_vega_gene ENSG00000253917 23 0 0 11 5 31.25 PDS5A 0 genome.wustl.edu 37 4 39839728 39839729 + Frame_Shift_Ins INS - - T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 39839728 39839729 - T INS PDS5A ENST00000303538 human ensembl 74_37 -1 known frame_shift_ins c.3758_3757 p.T1253fs 0.998:0.643 NULL superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 20 0 0 26 4 13.3333 LYAR 0 genome.wustl.edu 37 4 4285458 4285458 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 4285458 4285458 A - DEL LYAR ENST00000343470 human ensembl 74_37 -1 known frame_shift_del c.12 p.F4fs 0.999 NULL pfam_Znf_C2H2_LYAR - no_errors LYAR HGNC ENSG00000145220 51 0 0 15 8 34.7826 STX18 0 genome.wustl.edu 37 4 4436579 4436580 + Frame_Shift_Ins INS - - T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 4436579 4436580 - T INS STX18 ENST00000306200 human ensembl 74_37 -1 known frame_shift_ins c.620_619 p.I207fs 0.004:0.124 NULL pfam_Syntaxin-18_N - no_errors STX18 HGNC ENSG00000168818 64 0 0 25 18 41.8605 GNPDA2 0 genome.wustl.edu 37 4 44719161 44719161 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 44719161 44719161 T - DEL GNPDA2 ENST00000295448 human ensembl 74_37 -1 known frame_shift_del c.378 p.E127fs 0.785 pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase - no_errors GNPDA2 HGNC ENSG00000163281 85 0 0 41 13 24.0741 ATP10D 0 genome.wustl.edu 37 4 47559697 47559698 + Frame_Shift_Ins INS - - G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 47559697 47559698 - G INS ATP10D ENST00000273859 human ensembl 74_37 +1 known frame_shift_ins c.1841_1842 p.L617fs 0.449:0.439 superfamily_HAD-like_dom 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 ATP10D HGNC ENSG00000145246 59 0 0 35 12 25.5319 PIGG 0 genome.wustl.edu 37 4 515054 515055 + Frame_Shift_Ins INS - - T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 515054 515055 - T INS PIGG ENST00000453061 human ensembl 74_37 +1 known frame_shift_ins c.1324_1325 p.L443fs 0.967:0.961 NULL pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors PIGG HGNC ENSG00000174227 53 0 0 25 13 34.2105 S100P 0 genome.wustl.edu 37 4 6695772 6695774 + In_Frame_Del DEL AGA AGA - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 6695772 6695774 AGA - DEL S100P ENST00000296370 human ensembl 74_37 +1 known in_frame_del c.113_115 p.K39in_frame_del 0.995:0.995:0.994 pfam_S100_Ca-bd_sub pfam_S100_Ca-bd_sub,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors S100P HGNC ENSG00000163993 45 0 0 39 7 15.2174 SLC4A4 0 genome.wustl.edu 37 4 72319254 72319255 + Frame_Shift_Ins INS - - T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 72319254 72319255 - T INS SLC4A4 ENST00000425175 human ensembl 74_37 +1 known frame_shift_ins c.1365_1366 p.A457fs 0.987:1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 234 0 0 134 51 27.5676 PCGF3 0 genome.wustl.edu 37 4 755175 755175 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 755175 755175 A - DEL PCGF3 ENST00000362003 human ensembl 74_37 +1 known frame_shift_del c.571 p.K192fs 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF3 HGNC ENSG00000185619 147 0 0 70 37 34.5794 AFAP1-AS1 0 genome.wustl.edu 37 4 7776705 7776706 + RNA INS - - A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 7776705 7776706 - A INS AFAP1-AS1 ENST00000608442 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.004 - - - no_errors AFAP1-AS1 HGNC ENSG00000272620 33 0 0 26 5 16.129 FGF5 0 genome.wustl.edu 37 4 81196142 81196142 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 81196142 81196142 A - DEL FGF5 ENST00000312465 human ensembl 74_37 +1 known frame_shift_del c.435 p.G148fs 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF5 HGNC ENSG00000138675 65 0 0 26 11 29.7297 PKD2 0 genome.wustl.edu 37 4 88986559 88986559 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 88986559 88986559 A - DEL PKD2 ENST00000237596 human ensembl 74_37 +1 known frame_shift_del c.2152 p.N720fs 1.000 NULL pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2 HGNC ENSG00000118762 146 1 0.680272 99 40 28.777 GRID2 0 genome.wustl.edu 37 4 93225753 93225754 + RNA DEL AA AA - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 4 93225753 93225754 AA - DEL GRID2 ENST00000505687 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors GRID2 HGNC ENSG00000152208 20 0 0 17 7 29.1667 FBN2 0 genome.wustl.edu 37 5 127610310 127610311 + Frame_Shift_Ins INS - - C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 127610310 127610311 - C INS FBN2 ENST00000262464 human ensembl 74_37 -1 known frame_shift_ins c.7660_7659 p.F2553fs 0.998:0.012 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_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 115 0 0 70 23 24.7312 RAD50 0 genome.wustl.edu 37 5 131931452 131931453 + Frame_Shift_Del DEL AA AA - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 131931452 131931453 AA - DEL RAD50 ENST00000265335 human ensembl 74_37 +1 known frame_shift_del c.2157_2158 p.K722fs 0.997:1.000 superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes - no_errors RAD50 HGNC ENSG00000113522 88 0 0 71 22 23.6559 DNAH5 0 genome.wustl.edu 37 5 13751371 13751371 + Splice_Site DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 13751371 13751371 T - DEL DNAH5 ENST00000265104 human ensembl 74_37 -1 known splice_site_del c.11029-2 e65-2 0.985 - - - no_errors DNAH5 HGNC ENSG00000039139 32 0 0 16 8 33.3333 CDC25C 0 genome.wustl.edu 37 5 137627690 137627690 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 137627690 137627690 T - DEL CDC25C ENST00000323760 human ensembl 74_37 -1 known frame_shift_del c.731 p.K244fs 0.395 pfam_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25C HGNC ENSG00000158402 110 1 0.900901 65 21 24.4186 TCERG1 0 genome.wustl.edu 37 5 145886723 145886723 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 145886723 145886723 A - DEL TCERG1 ENST00000296702 human ensembl 74_37 +1 known frame_shift_del c.2863 p.K957fs 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 142 0 0 80 34 29.8246 LARP1 0 genome.wustl.edu 37 5 154173390 154173390 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 154173390 154173390 C - DEL LARP1 ENST00000336314 human ensembl 74_37 +1 known frame_shift_del c.668 p.T226fs 0.999 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 272 0 0 292 83 22.1333 SLIT3 0 genome.wustl.edu 37 5 168175427 168175431 + Frame_Shift_Del DEL CTCTC CTCTC - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 CTCTC CTCTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 168175427 168175431 CTCTC - DEL SLIT3 ENST00000519560 human ensembl 74_37 -1 known frame_shift_del c.2150_2146 p.E716fs 1.000:1.000:1.000:1.000:1.000 NULL 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 73 0 0 49 18 26.8657 PRKAA1 0 genome.wustl.edu 37 5 40775544 40775546 + In_Frame_Del DEL CTC CTC - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 40775544 40775546 CTC - DEL PRKAA1 ENST00000354209 human ensembl 74_37 -1 known in_frame_del c.331_329 p.G110in_frame_del 1.000:1.000:1.000 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,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRKAA1 HGNC ENSG00000132356 113 0 0 48 7 12.7273 MAP3K1 0 genome.wustl.edu 37 5 56177848 56177849 + In_Frame_Ins INS - - CAA TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 56177848 56177849 - CAA INS MAP3K1 ENST00000399503 human ensembl 74_37 +1 novel in_frame_ins c.2821_2822 p.945in_frame_insT 0.964:0.958 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_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom - no_errors MAP3K1 HGNC ENSG00000095015 66 0 0 62 15 19.4805 ERCC8 0 genome.wustl.edu 37 5 60224781 60224781 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 60224781 60224781 A - DEL ERCC8 ENST00000265038 human ensembl 74_37 -1 known frame_shift_del c.83 p.L28fs 0.989 NULL 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 ERCC8 HGNC ENSG00000049167 92 0 0 35 18 33.9623 KIF2A 0 genome.wustl.edu 37 5 61668339 61668341 + In_Frame_Del DEL CTT CTT - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 61668339 61668341 CTT - DEL KIF2A ENST00000407818 human ensembl 74_37 +1 known in_frame_del c.1721_1723 p.S575in_frame_del 1.000:1.000:1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2A HGNC ENSG00000068796 31 0 0 24 9 27.2727 ADAMTS6 0 genome.wustl.edu 37 5 64569200 64569200 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 5 64569200 64569200 C - DEL ADAMTS6 ENST00000381055 human ensembl 74_37 -1 known frame_shift_del c.1587 p.T530fs 1.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS6 HGNC ENSG00000049192 277 0 0 150 57 27.5362 GRIK2 0 genome.wustl.edu 37 6 102503432 102503432 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 102503432 102503432 A - DEL GRIK2 ENST00000421544 human ensembl 74_37 +1 known frame_shift_del c.2539 p.N849fs 1.000 NULL 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 GRIK2 HGNC ENSG00000164418 169 0 0 78 31 28.4404 BEND3 0 genome.wustl.edu 37 6 107391602 107391602 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 107391602 107391602 C - DEL BEND3 ENST00000369042 human ensembl 74_37 -1 known frame_shift_del c.793 p.D265fs 1.000 pfam_BEN_domain pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 61 0 0 61 5 7.57576 ROS1 0 genome.wustl.edu 37 6 117714409 117714409 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 117714409 117714409 T - DEL ROS1 ENST00000368508 human ensembl 74_37 -1 known frame_shift_del c.1240 p.I414fs 0.959 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 495 0 0 284 100 26.0417 SYNE1 0 genome.wustl.edu 37 6 152539539 152539540 + Splice_Site INS - - T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 152539539 152539540 - T INS SYNE1 ENST00000265368 human ensembl 74_37 -1 known splice_site_ins c.22045-2_22045-1 e119-1 1.000:0.988 - - - no_errors SYNE1 HGNC ENSG00000131018 219 0 0 184 39 17.4888 JARID2 0 genome.wustl.edu 37 6 15513219 15513220 + Frame_Shift_Ins INS - - A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 15513219 15513220 - A INS JARID2 ENST00000341776 human ensembl 74_37 +1 known frame_shift_ins c.3209_3210 p.E1073fs 1.000:0.269 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 191 0 0 151 60 28.436 ZDHHC14 0 genome.wustl.edu 37 6 158049476 158049477 + Frame_Shift_Del DEL AC AC - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 158049476 158049477 AC - DEL ZDHHC14 ENST00000359775 human ensembl 74_37 +1 known frame_shift_del c.661_662 p.T221fs 1.000:1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC14 HGNC ENSG00000175048 193 0 0 56 33 37.0787 LPAL2 0 genome.wustl.edu 37 6 160887595 160887595 + RNA DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 160887595 160887595 T - DEL LPAL2 ENST00000606083 human ensembl 74_37 -1 known rna NULL NULL 0.621 - - - no_errors LPAL2 HGNC ENSG00000213071 12 0 0 10 4 28.5714 QKI 0 genome.wustl.edu 37 6 163876309 163876310 + Splice_Site DEL AG AG - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 163876309 163876310 AG - DEL QKI ENST00000361752 human ensembl 74_37 +1 known splice_site_del c.143-2_143-1 e2-1 1.000:1.000 - - - no_errors QKI HGNC ENSG00000112531 59 0 0 19 14 42.4242 RBM24 0 genome.wustl.edu 37 6 17292449 17292449 + RNA DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 17292449 17292449 A - DEL RBM24 ENST00000508508 human ensembl 74_37 +1 known rna NULL NULL 0.915 - - - no_errors RBM24 HGNC ENSG00000112183 33 0 0 19 20 51.2821 HFE 0 genome.wustl.edu 37 6 26092988 26092989 + Frame_Shift_Ins INS - - C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 26092988 26092989 - C INS HFE ENST00000357618 human ensembl 74_37 +1 known frame_shift_ins c.692_693 p.Q233fs 0.997:0.998 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HFE HGNC ENSG00000010704 153 0 0 85 39 31.4516 SLC44A4 0 genome.wustl.edu 37 6 31832357 31832360 + RNA DEL AAAA AAAA - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 31832357 31832360 AAAA - DEL SLC44A4 ENST00000487680 human ensembl 74_37 -1 putative rna NULL NULL 0.055:0.066:0.070:0.080 - - - no_errors SLC44A4 HGNC ENSG00000204385 55 0 0 38 23 37.7049 TNXB 0 genome.wustl.edu 37 6 32020536 32020536 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 32020536 32020536 C - DEL TNXB ENST00000375247 human ensembl 74_37 -1 known frame_shift_del c.9020 p.G3007fs 0.041 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_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 74 0 0 43 30 41.0959 BRD2 0 genome.wustl.edu 37 6 32944465 32944468 + Frame_Shift_Del DEL AGAG AGAG - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 AGAG AGAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 32944465 32944468 AGAG - DEL BRD2 ENST00000395289 human ensembl 74_37 +1 known frame_shift_del c.952_955 p.E319fs 0.819:0.998:0.999:1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD2 HGNC ENSG00000204256 162 0 0 113 31 21.5278 PHF1 0 genome.wustl.edu 37 6 33383808 33383830 + Frame_Shift_Del DEL CTCGGAGAGTACGGCCTGATGGC CTCGGAGAGTACGGCCTGATGGC - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 CTCGGAGAGTACGGCCTGATGGC CTCGGAGAGTACGGCCTGATGGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 33383808 33383830 CTCGGAGAGTACGGCCTGATGGC - DEL PHF1 ENST00000374516 human ensembl 74_37 +1 known frame_shift_del c.1637_1659 p.A546fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.963:0.979:0.989:0.991:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF1 HGNC ENSG00000112511 177 0 0 108 15 12.1951 UHRF1BP1 0 genome.wustl.edu 37 6 34826123 34826124 + Frame_Shift_Ins INS - - T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 34826123 34826124 - T INS UHRF1BP1 ENST00000192788 human ensembl 74_37 +1 known frame_shift_ins c.1990_1991 p.L666fs 0.989:0.974 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 165 0 0 108 33 23.4043 RNF8 0 genome.wustl.edu 37 6 37328304 37328304 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 37328304 37328304 T - DEL RNF8 ENST00000373479 human ensembl 74_37 +1 known frame_shift_del c.194 p.L66fs 1.000 pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pirsf_E3_Ub_ligase_RNF8,pfscan_FHA_dom pfam_FHA_dom,pfam_Znf_C3HC4_RING-type,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pirsf_E3_Ub_ligase_RNF8,pfscan_FHA_dom,pfscan_Znf_RING - no_errors RNF8 HGNC ENSG00000112130 100 0 0 44 21 32.3077 CDC5L 0 genome.wustl.edu 37 6 44374080 44374081 + Frame_Shift_Ins INS - - A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 44374080 44374081 - A INS CDC5L ENST00000371477 human ensembl 74_37 +1 known frame_shift_ins c.779_780 p.D263fs 1.000:0.980 NULL pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors CDC5L HGNC ENSG00000096401 59 0 0 26 13 33.3333 PHF3 0 genome.wustl.edu 37 6 64395813 64395814 + Frame_Shift_Del DEL GT GT - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 64395813 64395814 GT - DEL PHF3 ENST00000509330 human ensembl 74_37 +1 putative frame_shift_del c.2190_2191 p.C733fs 1.000:1.000 NULL NULL - no_errors PHF3 HGNC ENSG00000118482 100 0 0 59 11 15.7143 PHF3 0 genome.wustl.edu 37 6 64423004 64423005 + Frame_Shift_Ins INS - - C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 64423004 64423005 - C INS PHF3 ENST00000262043 human ensembl 74_37 +1 known frame_shift_ins c.5520_5521 p.P1842fs 0.998:1.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 213 0 0 146 54 27 RIMS1 0 genome.wustl.edu 37 6 72596775 72596775 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 72596775 72596775 C - DEL RIMS1 ENST00000521978 human ensembl 74_37 +1 known frame_shift_del c.49 p.M19fs 1.000 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 RIMS1 HGNC ENSG00000079841 55 0 0 35 8 18.6047 BCKDHB 0 genome.wustl.edu 37 6 80878721 80878721 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 80878721 80878721 T - DEL BCKDHB ENST00000320393 human ensembl 74_37 +1 known frame_shift_del c.607 p.F204fs 1.000 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors BCKDHB HGNC ENSG00000083123 166 0 0 79 20 20.202 CASP8AP2 0 genome.wustl.edu 37 6 90576391 90576391 + RNA DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 6 90576391 90576391 A - DEL CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CASP8AP2 HGNC ENSG00000118412 19 0 0 18 6 25 GIGYF1 0 genome.wustl.edu 37 7 100280373 100280373 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 100280373 100280373 G - DEL GIGYF1 ENST00000275732 human ensembl 74_37 -1 known frame_shift_del c.2440 p.L814fs 0.985 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 49 0 0 42 16 27.5862 CUX1 0 genome.wustl.edu 37 7 101839973 101839974 + Frame_Shift_Ins INS - - C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 101839973 101839974 - C INS CUX1 ENST00000360264 human ensembl 74_37 +1 known frame_shift_ins c.1315_1316 p.P442fs 1.000:1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 151 0 0 90 28 23.7288 KMT2E 0 genome.wustl.edu 37 7 104746985 104746985 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 104746985 104746985 A - DEL KMT2E ENST00000257745 human ensembl 74_37 +1 known frame_shift_del c.2613 p.K873fs 0.999 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 65 0 0 47 17 26.5625 NOBOX 0 genome.wustl.edu 37 7 144098495 144098496 + Frame_Shift_Ins INS - - G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 144098495 144098496 - G INS NOBOX ENST00000467773 human ensembl 74_37 -1 known frame_shift_ins c.488_487 p.R163fs 0.116:0.001 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors NOBOX HGNC ENSG00000106410 49 0 0 17 27 61.3636 ATG9B 0 genome.wustl.edu 37 7 150721484 150721484 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 150721484 150721484 C - DEL ATG9B ENST00000377974 human ensembl 74_37 -1 known frame_shift_del c.27 p.R10fs 0.511 NULL pfam_Autophagy-rel_prot_9 - no_errors ATG9B HGNC ENSG00000181652 12 0 0 5 7 58.3333 RBM33 0 genome.wustl.edu 37 7 155556608 155556609 + Frame_Shift_Ins INS - - G TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 155556608 155556609 - G INS RBM33 ENST00000401878 human ensembl 74_37 +1 known frame_shift_ins c.3082_3083 p.L1031fs 1.000:1.000 NULL smart_RRM_dom - no_errors RBM33 HGNC ENSG00000184863 21 0 0 16 9 36 GLI3 0 genome.wustl.edu 37 7 42003913 42003913 + RNA DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 42003913 42003913 T - DEL GLI3 ENST00000479210 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GLI3 HGNC ENSG00000106571 41 0 0 35 12 25.5319 SNHG15 0 genome.wustl.edu 37 7 45025181 45025181 + RNA DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 45025181 45025181 G - DEL SNHG15 ENST00000577700 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SNHG15 HGNC ENSG00000232956 26 0 0 30 6 16.6667 KIAA1324L 0 genome.wustl.edu 37 7 86542522 86542523 + Splice_Site INS - - A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 86542522 86542523 - A INS KIAA1324L ENST00000450689 human ensembl 74_37 -1 known splice_site_ins c.1732-3_1732-2 e14-2 1.000:0.997 - - - no_errors KIAA1324L HGNC ENSG00000164659 62 0 0 41 8 16.3265 CROT 0 genome.wustl.edu 37 7 86978480 86978480 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 86978480 86978480 A - DEL CROT ENST00000331536 human ensembl 74_37 +1 known frame_shift_del c.96 p.K34fs 0.795 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CROT HGNC ENSG00000005469 65 0 0 29 8 21.6216 MTERF 0 genome.wustl.edu 37 7 91509449 91509449 + RNA DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 91509449 91509449 A - DEL MTERF ENST00000481516 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors MTERF HGNC ENSG00000127989 42 0 0 18 11 37.931 CASD1 0 genome.wustl.edu 37 7 94174999 94174999 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 94174999 94174999 A - DEL CASD1 ENST00000297273 human ensembl 74_37 +1 known frame_shift_del c.1619 p.A543fs 1.000 pfam_Cas1_AcylTrans_dom pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like - no_errors CASD1 HGNC ENSG00000127995 49 0 0 10 6 37.5 ZKSCAN5 0 genome.wustl.edu 37 7 99103706 99103706 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 99103706 99103706 C - DEL ZKSCAN5 ENST00000326775 human ensembl 74_37 +1 known frame_shift_del c.39 p.P15fs 0.980 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN5 HGNC ENSG00000196652 188 0 0 106 39 26.8966 C7orf43 0 genome.wustl.edu 37 7 99754484 99754484 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 99754484 99754484 G - DEL C7orf43 ENST00000316937 human ensembl 74_37 -1 known frame_shift_del c.977 p.P326fs 1.000 NULL NULL - no_errors C7orf43 HGNC ENSG00000146826 180 0 0 95 36 27.4809 GPC2 0 genome.wustl.edu 37 7 99769525 99769525 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 7 99769525 99769525 G - DEL GPC2 ENST00000292377 human ensembl 74_37 -1 known frame_shift_del c.1047 p.D350fs 0.020 pfam_Glypican pfam_Glypican - no_errors GPC2 HGNC ENSG00000213420 11 0 0 6 3 33.3333 RNF19A 0 genome.wustl.edu 37 8 101300216 101300216 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 101300216 101300216 T - DEL RNF19A ENST00000341084 human ensembl 74_37 -1 known frame_shift_del c.187 p.R63fs 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19A HGNC ENSG00000034677 85 0 0 88 23 20.7207 SNX31 0 genome.wustl.edu 37 8 101586120 101586120 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 101586120 101586120 A - DEL SNX31 ENST00000311812 human ensembl 74_37 -1 known frame_shift_del c.1296 p.F432fs 0.782 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX31 HGNC ENSG00000174226 96 0 0 65 8 10.9589 UBR5 0 genome.wustl.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 103289349 103289349 T - DEL UBR5 ENST00000520539 human ensembl 74_37 -1 known frame_shift_del c.6360 p.E2121fs 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 128 0 0 106 27 20.3008 DCAF13 0 genome.wustl.edu 37 8 104439487 104439487 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 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 40 0 0 26 10 27.7778 PTK2 0 genome.wustl.edu 37 8 141754887 141754888 + RNA DEL AG AG - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 141754887 141754888 AG - DEL PTK2 ENST00000518509 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors PTK2 HGNC ENSG00000169398 29 0 0 25 4 13.7931 PTK2 0 genome.wustl.edu 37 8 141754889 141754890 + RNA DEL AA AA - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 141754889 141754890 AA - DEL PTK2 ENST00000518509 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.004 - - - no_errors PTK2 HGNC ENSG00000169398 24 0 0 22 7 24.1379 JRK 0 genome.wustl.edu 37 8 143746196 143746198 + RNA DEL AGG AGG - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 143746196 143746198 AGG - DEL JRK ENST00000422119 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.001 - - - no_errors JRK HGNC ENSG00000234616 8 0 0 10 4 28.5714 ENSG00000204791 0 genome.wustl.edu 37 8 145106384 145106384 + RNA DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 145106384 145106384 G - DEL ENSG00000204791 ENST00000528912 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CTD-3065J16.6 Clone_based_vega_gene ENSG00000204791 25 0 0 27 13 32.5 CYC1 0 genome.wustl.edu 37 8 145150876 145150876 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 145150876 145150876 C - DEL CYC1 ENST00000318911 human ensembl 74_37 +1 known frame_shift_del c.270 p.S93fs 1.000 superfamily_Cyt_c-like_dom pfam_Cyt_c1,superfamily_Cyt_c-like_dom,superfamily_Cyt_c1_TM_anchor_C,prints_Cyt_c1 - no_errors CYC1 HGNC ENSG00000179091 115 0 0 132 25 15.9236 ENTPD4 0 genome.wustl.edu 37 8 23292045 23292046 + RNA DEL CA CA - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 23292045 23292046 CA - DEL ENTPD4 ENST00000522913 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ENTPD4 HGNC ENSG00000197217 42 0 0 37 15 28.8462 ESCO2 0 genome.wustl.edu 37 8 27634576 27634577 + Frame_Shift_Ins INS - - A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 27634576 27634577 - A INS ESCO2 ENST00000305188 human ensembl 74_37 +1 known frame_shift_ins c.751_752 p.T254fs 0.002:0.002 NULL NULL - no_errors ESCO2 HGNC ENSG00000171320 62 0 0 93 18 16.2162 RB1CC1 0 genome.wustl.edu 37 8 53573204 53573205 + Frame_Shift_Ins INS - - A TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 53573204 53573205 - A INS RB1CC1 ENST00000025008 human ensembl 74_37 -1 known frame_shift_ins c.1641_1640 p.L547fs 1.000:1.000 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC ENSG00000023287 83 0 0 61 13 17.5676 MCMDC2 0 genome.wustl.edu 37 8 67786699 67786699 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 67786699 67786699 A - DEL MCMDC2 ENST00000415737 human ensembl 74_37 +1 known frame_shift_del c.179 p.K62fs 0.836 NULL NULL - no_errors MCMDC2 HGNC ENSG00000178460 52 0 0 48 19 28.3582 ZFHX4 0 genome.wustl.edu 37 8 77767090 77767090 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 77767090 77767090 A - DEL ZFHX4 ENST00000521891 human ensembl 74_37 +1 known frame_shift_del c.7933 p.R2647fs 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 88 0 0 81 21 20.5882 NBN 0 genome.wustl.edu 37 8 90967512 90967512 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 90967512 90967512 T - DEL NBN ENST00000265433 human ensembl 74_37 -1 known frame_shift_del c.1396 p.R466fs 1.000 pirsf_Nibrin_met pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom - no_errors NBN HGNC ENSG00000104320 129 0 0 74 21 22.1053 SLC26A7 0 genome.wustl.edu 37 8 92352747 92352747 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 92352747 92352747 A - DEL SLC26A7 ENST00000309536 human ensembl 74_37 +1 known frame_shift_del c.994 p.K333fs 1.000 pfam_Sulph_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A7 HGNC ENSG00000147606 118 0 0 73 29 28.4314 ESRP1 0 genome.wustl.edu 37 8 95686611 95686611 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 95686611 95686611 A - DEL ESRP1 ENST00000433389 human ensembl 74_37 +1 known frame_shift_del c.1528 p.N512fs 1.000 smart_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 114 0 0 52 55 51.4019 TSPYL5 0 genome.wustl.edu 37 8 98289664 98289664 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 8 98289664 98289664 G - DEL TSPYL5 ENST00000322128 human ensembl 74_37 -1 known frame_shift_del c.409 p.R137fs 0.768 NULL pfam_NAP_family - no_errors TSPYL5 HGNC ENSG00000180543 66 0 0 89 16 15.2381 ZFP37 0 genome.wustl.edu 37 9 115806416 115806416 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 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 86 0 0 52 20 27.7778 CNTRL 0 genome.wustl.edu 37 9 123924525 123924525 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 123924525 123924525 A - DEL CNTRL ENST00000238341 human ensembl 74_37 +1 known frame_shift_del c.5399 p.K1802fs 1.000 superfamily_tRNA-bd_arm pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 75 0 0 44 17 27.8689 NEK6 0 genome.wustl.edu 37 9 127110068 127110068 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 127110068 127110068 C - DEL NEK6 ENST00000373600 human ensembl 74_37 +1 known frame_shift_del c.900 p.P302fs 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK6 HGNC ENSG00000119408 215 0 0 177 60 25.3165 SLC27A4 0 genome.wustl.edu 37 9 131112647 131112649 + In_Frame_Del DEL GTG GTG - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 GTG GTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 131112647 131112649 GTG - DEL SLC27A4 ENST00000300456 human ensembl 74_37 +1 known in_frame_del c.772_774 p.V259in_frame_del 1.000:1.000:0.967 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A4 HGNC ENSG00000167114 291 0 0 154 47 23.3831 C9orf114 0 genome.wustl.edu 37 9 131591120 131591120 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 131591120 131591120 T - DEL C9orf114 ENST00000361256 human ensembl 74_37 -1 known frame_shift_del c.102 p.K34fs 0.998 NULL pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold - no_errors C9orf114 HGNC ENSG00000198917 200 0 0 120 60 33.3333 AK8 0 genome.wustl.edu 37 9 135753607 135753607 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 135753607 135753607 G - DEL AK8 ENST00000298545 human ensembl 74_37 -1 known frame_shift_del c.36 p.E13fs 0.965 superfamily_cAMP_dep_PK_reg_su_I/II_a/b pfam_Adenylate_kin,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin - no_errors AK8 HGNC ENSG00000165695 48 0 0 46 10 17.8571 SEC16A 0 genome.wustl.edu 37 9 139336155 139336155 + RNA DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 139336155 139336155 G - DEL SEC16A ENST00000467838 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SEC16A HGNC ENSG00000148396 21 0 0 26 9 25.7143 NOTCH1 0 genome.wustl.edu 37 9 139410074 139410074 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 139410074 139410074 G - DEL NOTCH1 ENST00000277541 human ensembl 74_37 -1 known frame_shift_del c.1764 p.C589fs 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,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,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 9 0 0 16 5 23.8095 LCN8 0 genome.wustl.edu 37 9 139649798 139649798 + RNA DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 139649798 139649798 G - DEL LCN8 ENST00000480597 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LCN8 HGNC ENSG00000204001 38 0 0 56 16 22.2222 NPDC1 0 genome.wustl.edu 37 9 139934526 139934526 + RNA DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 139934526 139934526 G - DEL NPDC1 ENST00000472668 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors NPDC1 HGNC ENSG00000107281 29 0 0 26 12 31.5789 ZMYND19 0 genome.wustl.edu 37 9 140481542 140481542 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 140481542 140481542 C - DEL ZMYND19 ENST00000298585 human ensembl 74_37 -1 known frame_shift_del c.236 p.G79fs 0.986 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND19 HGNC ENSG00000165724 144 0 0 143 8 5.29801 FOCAD 0 genome.wustl.edu 37 9 20912931 20912931 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 20912931 20912931 A - DEL FOCAD ENST00000338382 human ensembl 74_37 +1 known frame_shift_del c.2785 p.S931fs 1.000 superfamily_ARM-type_fold pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 31 0 0 29 12 29.2683 SMARCA2 0 genome.wustl.edu 37 9 2181665 2181665 + Frame_Shift_Del DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 2181665 2181665 A - DEL SMARCA2 ENST00000349721 human ensembl 74_37 +1 known frame_shift_del c.4348 p.I1452fs 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 51 0 0 15 15 50 TAF1L 0 genome.wustl.edu 37 9 32633024 32633025 + Frame_Shift_Ins INS - - T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 32633024 32633025 - T INS TAF1L ENST00000242310 human ensembl 74_37 -1 known frame_shift_ins c.2554_2553 p.A851fs 1.000:1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 228 0 0 157 9 5.42169 DNAJA1 0 genome.wustl.edu 37 9 33034284 33034286 + In_Frame_Del DEL TAT TAT - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 TAT TAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 33034284 33034286 TAT - DEL DNAJA1 ENST00000330899 human ensembl 74_37 +1 known in_frame_del c.714_716 p.I241in_frame_del 1.000:1.000:1.000 pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_C,pfam_DnaJ_domain,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain - no_errors DNAJA1 HGNC ENSG00000086061 96 0 0 44 12 21.4286 C9orf131 0 genome.wustl.edu 37 9 35043650 35043650 + Frame_Shift_Del DEL C C - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 35043650 35043650 C - DEL C9orf131 ENST00000312292 human ensembl 74_37 +1 known frame_shift_del c.1024 p.C344fs 0.000 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 575 0 0 516 135 20.7373 TESK1 0 genome.wustl.edu 37 9 35607526 35607526 + RNA DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 35607526 35607526 G - DEL TESK1 ENST00000463897 human ensembl 74_37 +1 known rna NULL NULL 0.031 - - - no_errors TESK1 HGNC ENSG00000107140 120 0 0 72 63 46.6667 UHRF2 0 genome.wustl.edu 37 9 6499821 6499822 + RNA INS - - C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 6499821 6499822 - C INS UHRF2 ENST00000492853 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors UHRF2 HGNC ENSG00000147854 36 0 0 40 8 16.6667 TJP2 0 genome.wustl.edu 37 9 71835953 71835953 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 71835953 71835953 G - DEL TJP2 ENST00000539225 human ensembl 74_37 +1 known frame_shift_del c.586 p.R198fs 0.997 NULL pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC ENSG00000119139 15 0 0 17 14 45.1613 DAPK1 0 genome.wustl.edu 37 9 90321802 90321802 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 90321802 90321802 G - DEL DAPK1 ENST00000469640 human ensembl 74_37 +1 known frame_shift_del c.3891 p.Y1300fs 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 124 0 0 80 33 29.2035 IARS 0 genome.wustl.edu 37 9 95003101 95003101 + RNA DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d 9 95003101 95003101 A - DEL IARS ENST00000473915 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors IARS HGNC ENSG00000196305 20 0 0 9 5 35.7143 RHOXF2 0 genome.wustl.edu 37 X 119293217 119293217 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d X 119293217 119293217 G - DEL RHOXF2 ENST00000371388 human ensembl 74_37 +1 known frame_shift_del c.376 p.L128fs 0.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors RHOXF2 HGNC ENSG00000131721 45 0 0 43 10 18.8679 MOSPD1 0 genome.wustl.edu 37 X 134033048 134033048 + RNA DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d X 134033048 134033048 T - DEL MOSPD1 ENST00000462060 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MOSPD1 HGNC ENSG00000101928 41 0 0 15 27 64.2857 DDX26B 0 genome.wustl.edu 37 X 134680317 134680317 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d X 134680317 134680317 T - DEL DDX26B ENST00000370752 human ensembl 74_37 +1 known frame_shift_del c.352 p.L120fs 1.000 pfscan_VWF_A pfscan_VWF_A - no_errors DDX26B HGNC ENSG00000165359 36 0 0 7 13 65 FGF13 0 genome.wustl.edu 37 X 137939823 137939823 + Frame_Shift_Del DEL G G - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d X 137939823 137939823 G - DEL FGF13 ENST00000370603 human ensembl 74_37 -1 known frame_shift_del c.68 p.P23fs 1.000 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam - no_errors FGF13 HGNC ENSG00000129682 30 0 0 10 14 58.3333 MAMLD1 0 genome.wustl.edu 37 X 149639324 149639325 + In_Frame_Ins INS - - CAG TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d X 149639324 149639325 - CAG INS MAMLD1 ENST00000432680 human ensembl 74_37 +1 known in_frame_ins c.1404_1405 p.472in_frame_insQ 0.002:0.006 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 48 0 0 42 11 20.7547 F8 0 genome.wustl.edu 37 X 154157686 154157686 + Frame_Shift_Del DEL T T - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d X 154157686 154157686 T - DEL F8 ENST00000360256 human ensembl 74_37 -1 known frame_shift_del c.4379 p.N1460fs 0.012 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 88 0 0 53 7 11.6667 RPS6KA3 0 genome.wustl.edu 37 X 20173535 20173536 + Frame_Shift_Ins INS - - T TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d X 20173535 20173536 - T INS RPS6KA3 ENST00000379565 human ensembl 74_37 -1 known frame_shift_ins c.2204_2203 p.I735fs 1.000:1.000 superfamily_Kinase-like_dom,pirsf_Ribosomal_S6_kinase_II pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RPS6KA3 HGNC ENSG00000177189 96 0 0 83 6 6.74157 MED14 0 genome.wustl.edu 37 X 40588606 40588607 + RNA DEL AA AA - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d X 40588606 40588607 AA - DEL MED14 ENST00000463072 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors MED14 HGNC ENSG00000180182 25 0 0 11 6 35.2941 ZXDB 0 genome.wustl.edu 37 X 57620306 57620307 + Frame_Shift_Del DEL TC TC - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d X 57620306 57620307 TC - DEL ZXDB ENST00000374888 human ensembl 74_37 +1 known frame_shift_del c.1825_1826 p.F611fs 0.999:1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDB HGNC ENSG00000198455 87 0 0 69 13 15.8537 AMER1 0 genome.wustl.edu 37 X 63412123 63412124 + Frame_Shift_Ins INS - - C TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d X 63412123 63412124 - C INS AMER1 ENST00000330258 human ensembl 74_37 -1 known frame_shift_ins c.1044_1043 p.Q349fs 0.998:1.000 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors AMER1 HGNC ENSG00000184675 119 0 0 85 7 7.6087 ITGB1BP2 0 genome.wustl.edu 37 X 70521660 70521661 + Frame_Shift_Del DEL TC TC - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d X 70521660 70521661 TC - DEL ITGB1BP2 ENST00000373829 human ensembl 74_37 +1 known frame_shift_del c.4_5 p.L3fs 1.000:1.000 pfam_CHORD pfam_CHORD,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors ITGB1BP2 HGNC ENSG00000147166 54 0 0 25 29 53.7037 XIST 0 genome.wustl.edu 37 X 73071846 73071846 + RNA DEL A A - TCGA-HU-A4H8-01A-11D-A25D-08 TCGA-HU-A4H8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e6d3704-3182-409f-8aa5-b5956ec79a80 a926e4a4-f9e1-4732-a285-d82ea4c33f4d X 73071846 73071846 A - DEL XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors XIST HGNC ENSG00000229807 8 0 0 7 14 66.6667