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 ABCA13 0 genome.wustl.edu 37 7 48259060 48259060 + Missense_Mutation SNP A A G TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 7 48259060 48259060 A G SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.397 p.K133E 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 - - 55 0 0.00 66 12 15.38 ABCA13 0 genome.wustl.edu 37 7 48619851 48619851 + Missense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 7 48619851 48619851 G A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.14386 p.A4796T 0.002 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 36 0 0.00 39 3 7.14 ACSF2 0 genome.wustl.edu 37 17 48540593 48540593 + Missense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 17 48540593 48540593 G A SNP ACSF2 ENST00000300441 human ensembl 74_37 +1 known missense c.869 p.R290H 0.875 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSF2 HGNC ENSG00000167107 tier1 - - 28 0 0.00 22 6 21.43 ACSS3 0 genome.wustl.edu 37 12 81648634 81648634 + Splice_Site SNP A A G TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 12 81648634 81648634 A G SNP ACSS3 ENST00000548058 human ensembl 74_37 +1 known splice_site c.1996-2 e16-2 1.000 - - - no_errors ACSS3 HGNC ENSG00000111058 tier1 - - 117 0 0.00 63 6 8.70 ADORA1 0 genome.wustl.edu 37 1 203134918 203134918 + Missense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 1 203134918 203134918 C T SNP ADORA1 ENST00000309502 human ensembl 74_37 +1 known missense c.871 p.R291C 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adenosn_rcpt,prints_GPCR_Rhodpsn,prints_Adeno_A1_rcpt - no_errors ADORA1 HGNC ENSG00000163485 tier1 rs201703869 - 25 0 0.00 11 21 65.62 ADRBK1 0 genome.wustl.edu 37 11 67052330 67052330 + Missense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 11 67052330 67052330 G A SNP ADRBK1 ENST00000308595 human ensembl 74_37 +1 known missense c.1667 p.G556D 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,pfam_Pleckstrin_homology,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,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors ADRBK1 HGNC ENSG00000173020 91 0 0.00 70 4 5.41 ADRBK2 0 genome.wustl.edu 37 22 26063736 26063736 + Silent SNP C C A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 22 26063736 26063736 C A SNP ADRBK2 ENST00000324198 human ensembl 74_37 +1 known silent c.472 p.R158 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,pfam_Pleckstrin_homology,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,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors ADRBK2 HGNC ENSG00000100077 tier1 - - 24 0 0.00 14 3 17.65 AFP 0 genome.wustl.edu 37 4 74321406 74321406 + Missense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 4 74321406 74321406 C T SNP AFP ENST00000226359 human ensembl 74_37 +1 putative missense c.1844 p.T615I 0.011 NULL pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin/AFP,prints_Alpha-fetoprotein,prints_ALB/AFP/VDB - no_errors AFP HGNC ENSG00000081051 tier1 - - 84 0 0.00 54 9 14.29 AIM1L 0 genome.wustl.edu 37 1 26655271 26655271 + Missense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 1 26655271 26655271 C T SNP AIM1L ENST00000527815 human ensembl 74_37 -1 known missense c.1786 p.E596K 0.998 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1L HGNC ENSG00000176092 tier1 - - 43 0 0.00 30 4 11.76 AKAP11 0 genome.wustl.edu 37 13 42887235 42887235 + Nonsense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 13 42887235 42887235 G T SNP AKAP11 ENST00000025301 human ensembl 74_37 +1 known nonsense c.5326 p.E1776* 1.000 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 tier1 - - 77 0 0.00 63 4 5.97 AKAP13 0 genome.wustl.edu 37 15 86122396 86122396 + Missense_Mutation SNP A A G TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 15 86122396 86122396 A G SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.1097 p.D366G 0.002 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 tier1 - - 40 0 0.00 25 14 35.00 ANKRD30A 0 genome.wustl.edu 37 10 37421184 37421184 + Missense_Mutation SNP T T C TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 10 37421184 37421184 T C SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.359 p.L120P 0.742 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 76 0 0.00 55 3 5.17 APOL3 0 genome.wustl.edu 37 22 36537959 36537959 + Silent SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 22 36537959 36537959 G T SNP APOL3 ENST00000349314 human ensembl 74_37 -1 known silent c.498 p.S166 0.026 pfam_ApoL pfam_ApoL - no_errors APOL3 HGNC ENSG00000128284 tier1 - - 45 0 0.00 17 3 15.00 ARHGAP21 0 genome.wustl.edu 37 10 24886905 24886905 + Silent SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 10 24886905 24886905 G T SNP ARHGAP21 ENST00000396432 human ensembl 74_37 -1 known silent c.3166 p.R1056 1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 49 0 0.00 32 2 5.88 ARHGEF17 0 genome.wustl.edu 37 11 73020375 73020376 + In_Frame_Ins INS - - CTC TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 11 73020375 73020376 - CTC INS ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known in_frame_ins c.692_693 p.235in_frame_insS 0.998:1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 tier1 14 0 0.00 10 10 50.00 ASTN1 0 genome.wustl.edu 37 1 176903418 176903418 + Silent SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 1 176903418 176903418 C T SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known silent c.2565 p.A855 0.149 smart_MACPF superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 tier1 - - 40 0 0.00 22 20 47.62 ASTN1 0 genome.wustl.edu 37 1 176918382 176918382 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 1 176918382 176918382 G T SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known missense c.2017 p.L673I 1.000 smart_EG-like_dom superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 tier1 - - 43 0 0.00 29 9 23.68 ASXL3 0 genome.wustl.edu 37 18 31311980 31311980 + Nonsense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 18 31311980 31311980 G T SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known nonsense c.928 p.E310* 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 tier1 - - 72 0 0.00 68 4 5.56 ATAD3A 0 genome.wustl.edu 37 1 1459346 1459346 + Splice_Site SNP T T G TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 1 1459346 1459346 T G SNP ATAD3A ENST00000378755 human ensembl 74_37 +1 known splice_site c.1233+2 e10+2 1.000 - - - no_errors ATAD3A HGNC ENSG00000197785 tier1 - - 140 0 0.00 68 51 42.86 ATN1 0 genome.wustl.edu 37 12 7045860 7045860 + Missense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 12 7045860 7045860 C T SNP ATN1 ENST00000356654 human ensembl 74_37 +1 known missense c.1430 p.S477L 0.056 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 tier1 - - 98 0 0.00 69 16 18.82 ATP8B5P 0 genome.wustl.edu 37 9 35450933 35450933 + RNA DEL T T - TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 9 35450933 35450933 T 0 DEL ATP8B5P ENST00000430846 human ensembl 74_37 +1 known rna NULL NULL 0.108 - - - no_errors ATP8B5P HGNC ENSG00000179766 124 0 0.00 122 7 5.43 BAIAP2L2 0 genome.wustl.edu 37 22 38481381 38481381 + Missense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 22 38481381 38481381 C T SNP BAIAP2L2 ENST00000381669 human ensembl 74_37 -1 known missense c.1516 p.G506S 1.000 NULL pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L2 HGNC ENSG00000128298 tier1 - - 56 0 0.00 34 4 10.53 BATF 0 genome.wustl.edu 37 14 75989066 75989066 + Missense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 14 75989066 75989066 G A SNP BATF ENST00000286639 human ensembl 74_37 +1 known missense c.41 p.R14H 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors BATF HGNC ENSG00000156127 tier1 - - 52 0 0.00 36 4 10.00 BBS12 0 genome.wustl.edu 37 4 123664549 123664549 + Missense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 4 123664549 123664549 C T SNP BBS12 ENST00000314218 human ensembl 74_37 +1 known missense c.1502 p.T501M 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom - no_errors BBS12 HGNC ENSG00000181004 49 0 0.00 27 2 6.90 BLNK 0 genome.wustl.edu 37 10 97966768 97966768 + Missense_Mutation SNP T T A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 10 97966768 97966768 T A SNP BLNK ENST00000224337 human ensembl 74_37 -1 known missense c.816 p.E272D 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors BLNK HGNC ENSG00000095585 tier1 - - 81 0 0.00 46 4 8.00 BMP7 0 genome.wustl.edu 37 20 55803475 55803475 + Missense_Mutation SNP C C G TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 20 55803475 55803475 C G SNP BMP7 ENST00000395863 human ensembl 74_37 -1 known missense c.421 p.E141Q 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP7 HGNC ENSG00000101144 tier1 - - 29 0 0.00 23 10 30.30 BMPR2 0 genome.wustl.edu 37 2 203420071 203420071 + Silent SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 2 203420071 203420071 C T SNP BMPR2 ENST00000374580 human ensembl 74_37 +1 known silent c.1683 p.S561 1.000 NULL 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 - no_errors BMPR2 HGNC ENSG00000204217 35 0 0.00 34 2 5.56 BOD1L1 0 genome.wustl.edu 37 4 13606489 13606489 + Nonsense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 4 13606489 13606489 G A SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known nonsense c.2035 p.Q679* 0.082 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 tier1 - - 62 0 0.00 29 12 29.27 BTF3 0 genome.wustl.edu 37 5 72795014 72795014 + Missense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 5 72795014 72795014 G A SNP BTF3 ENST00000380591 human ensembl 74_37 +1 known missense c.188 p.R63H 1.000 NULL pfam_Nas_poly-pep-assoc_cplx_dom,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors BTF3 HGNC ENSG00000145741 tier1 - - 105 0 0.00 74 4 5.13 C1QL3 0 genome.wustl.edu 37 10 16562539 16562539 + Missense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 10 16562539 16562539 G A SNP C1QL3 ENST00000298943 human ensembl 74_37 -1 known missense c.526 p.H176Y 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL3 HGNC ENSG00000165985 tier1 - - 36 0 0.00 31 4 11.43 C6orf1 0 genome.wustl.edu 37 6 34214625 34214625 + Missense_Mutation SNP A A T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 6 34214625 34214625 A T SNP C6orf1 ENST00000394990 human ensembl 74_37 -1 known missense c.146 p.V49E 0.835 NULL NULL - no_errors C6orf1 HGNC ENSG00000186577 tier1 - - 33 0 0.00 23 4 14.81 C7orf63 0 genome.wustl.edu 37 7 89937151 89937151 + Missense_Mutation SNP A A G TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 7 89937151 89937151 A G SNP C7orf63 ENST00000389297 human ensembl 74_37 +1 known missense c.2533 p.N845D 1.000 NULL superfamily_ARM-type_fold - no_errors C7orf63 HGNC ENSG00000105792 68 0 0.00 45 3 6.25 CACNA1C 0 genome.wustl.edu 37 12 2666138 2666138 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 12 2666138 2666138 G T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.1503 p.K501N 1.000 prints_VDCC_L_a1su 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 25 0 0.00 24 2 7.69 CASZ1 0 genome.wustl.edu 37 1 10708045 10708045 + Missense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 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 64 0 0.00 37 3 7.50 CCDC155 0 genome.wustl.edu 37 19 49920666 49920668 + In_Frame_Del DEL CTG CTG - TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 19 49920666 49920668 CTG - DEL CCDC155 ENST00000447857 human ensembl 74_37 +1 known in_frame_del c.1588_1590 p.L533in_frame_del 0.981:1.000:1.000 NULL NULL - no_errors CCDC155 HGNC ENSG00000161609 tier1 29 0 0.00 26 3 10.34 CCDC158 0 genome.wustl.edu 37 4 77300523 77300523 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 4 77300523 77300523 G T SNP CCDC158 ENST00000388914 human ensembl 74_37 -1 known missense c.949 p.R317S 1.000 NULL superfamily_Prefoldin - no_errors CCDC158 HGNC ENSG00000163749 75 0 0.00 40 3 6.98 CCNE1 0 genome.wustl.edu 37 19 30303882 30303882 + Nonsense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 19 30303882 30303882 C T SNP CCNE1 ENST00000262643 human ensembl 74_37 +1 known nonsense c.118 p.Q40* 1.000 pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNE1 HGNC ENSG00000105173 tier1 - - 94 0 0.00 87 5 5.43 CDC7 0 genome.wustl.edu 37 1 91967309 91967309 + Silent SNP A A G TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 1 91967309 91967309 A G SNP CDC7 ENST00000234626 human ensembl 74_37 +1 known silent c.36 p.P12 0.059 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 tier1 - - 69 0 0.00 44 6 12.00 CDH11 0 genome.wustl.edu 37 16 64982611 64982611 + Missense_Mutation SNP A A C TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 16 64982611 64982611 A C SNP CDH11 ENST00000394156 human ensembl 74_37 -1 known missense c.1974 p.F658L 0.001 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 tier1 - - 56 0 0.00 24 20 45.45 CDH2 0 genome.wustl.edu 37 18 25568592 25568592 + Frame_Shift_Del DEL A A - TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 18 25568592 25568592 A - DEL CDH2 ENST00000269141 human ensembl 74_37 -1 known frame_shift_del c.1637 p.I546fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin/Desmocollin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH2 HGNC ENSG00000170558 tier1 49 0 0.00 14 24 63.16 CDH2 0 genome.wustl.edu 37 18 25568598 25568598 + Missense_Mutation SNP A A T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 18 25568598 25568598 A T SNP CDH2 ENST00000269141 human ensembl 74_37 -1 known missense c.1631 p.L544Q 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin/Desmocollin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH2 HGNC ENSG00000170558 tier1 - - 45 0 0.00 12 24 63.16 CDH23 0 genome.wustl.edu 37 10 73558899 73558899 + Silent SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 10 73558899 73558899 C T SNP CDH23 ENST00000398788 human ensembl 74_37 +1 known silent c.366 p.Y122 0.572 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 70 0 0.00 25 3 10.71 CDH9 0 genome.wustl.edu 37 5 26988340 26988340 + Missense_Mutation SNP C C A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 5 26988340 26988340 C A SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.101 p.S34I 0.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 tier1 - - 36 0 0.00 25 5 16.67 CHDC2 0 genome.wustl.edu 37 X 36122690 36122690 + Silent SNP A A G TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b X 36122690 36122690 A G SNP CHDC2 ENST00000313548 human ensembl 74_37 +1 known silent c.927 p.K309 0.004 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain - no_errors CHDC2 HGNC ENSG00000176034 tier1 - - 70 0 0.00 15 38 71.70 CIR1 0 genome.wustl.edu 37 2 175213712 175213713 + Frame_Shift_Ins INS - - T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 2 175213712 175213713 - T INS CIR1 ENST00000342016 human ensembl 74_37 -1 known frame_shift_ins c.866_865 p.I289fs 0.109:0.130 NULL pfam_CIR_N_dom,superfamily_Znf_CCHC - no_errors CIR1 HGNC ENSG00000138433 tier1 28 0 0.00 23 4 14.81 CLEC17A 0 genome.wustl.edu 37 19 14710574 14710574 + Missense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 19 14710574 14710574 G A SNP CLEC17A ENST00000417570 human ensembl 74_37 +1 known missense c.692 p.R231H 0.001 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC17A HGNC ENSG00000187912 47 0 0.00 40 3 6.98 CNTN3 0 genome.wustl.edu 37 3 74411155 74411155 + Missense_Mutation SNP T T G TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 3 74411155 74411155 T G SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known missense c.1250 p.K417T 0.703 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 tier1 - - 54 0 0.00 10 16 61.54 COL6A1 0 genome.wustl.edu 37 21 47404277 47404277 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 21 47404277 47404277 G T SNP COL6A1 ENST00000361866 human ensembl 74_37 +1 known missense c.322 p.G108C 0.004 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC ENSG00000142156 tier1 - - 59 0 0.00 32 4 11.11 CRISP3 0 genome.wustl.edu 37 6 49700907 49700907 + Splice_Site SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 6 49700907 49700907 C T SNP CRISP3 ENST00000433368 human ensembl 74_37 -1 known splice_site c.590+1 e6+1 1.000 - - - no_errors CRISP3 HGNC ENSG00000096006 tier1 - - 56 0 0.00 36 17 32.08 CYP4V2 0 genome.wustl.edu 37 4 187130387 187130387 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 4 187130387 187130387 G T SNP CYP4V2 ENST00000378802 human ensembl 74_37 +1 known missense c.1366 p.A456S 0.611 pfam_Cyt_P450,superfamily_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-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4V2 HGNC ENSG00000145476 tier1 - - 34 0 0.00 20 3 13.04 CYTIP 0 genome.wustl.edu 37 2 158300475 158300475 + Missense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 2 158300475 158300475 C T SNP CYTIP ENST00000264192 human ensembl 74_37 -1 known missense c.58 p.A20T 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors CYTIP HGNC ENSG00000115165 tier1 rs200094703 - 52 0 0.00 63 4 5.97 DAGLB 0 genome.wustl.edu 37 7 6452617 6452617 + Missense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 7 6452617 6452617 C T SNP DAGLB ENST00000428902 human ensembl 74_37 -1 known missense c.1054 p.G352R 0.547 NULL pfam_Lipase_3 - no_errors DAGLB HGNC ENSG00000164535 39 0 0.00 40 5 11.11 DAPK1 0 genome.wustl.edu 37 9 90321181 90321181 + Silent SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 9 90321181 90321181 C T SNP DAPK1 ENST00000469640 human ensembl 74_37 +1 known silent c.3270 p.T1090 0.738 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 tier1 - - 46 0 0.00 37 12 24.49 DCAF4L1 0 genome.wustl.edu 37 4 41984854 41984854 + Missense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 4 41984854 41984854 C T SNP DCAF4L1 ENST00000333141 human ensembl 74_37 +1 known missense c.1045 p.L349F 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L1 HGNC ENSG00000182308 tier1 - - 70 0 0.00 19 44 69.84 DCAF4L1 0 genome.wustl.edu 37 4 41984856 41984856 + Silent SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 4 41984856 41984856 C T SNP DCAF4L1 ENST00000333141 human ensembl 74_37 +1 known silent c.1047 p.L349 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L1 HGNC ENSG00000182308 tier1 - - 66 0 0.00 19 41 68.33 DMD 0 genome.wustl.edu 37 X 32472939 32472939 + Missense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b X 32472939 32472939 C T SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.3443 p.R1148K 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 - - 39 0 0.00 9 30 76.92 DNAH7 0 genome.wustl.edu 37 2 196765009 196765009 + Silent SNP C C A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 2 196765009 196765009 C A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known silent c.4545 p.L1515 0.530 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 tier1 - - 70 0 0.00 32 21 39.62 DNALI1 0 genome.wustl.edu 37 1 38027201 38027203 + In_Frame_Del DEL GCT GCT - TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 1 38027201 38027203 GCT - DEL DNALI1 ENST00000296218 human ensembl 74_37 +1 known in_frame_del c.507_509 p.L173in_frame_del 0.797:1.000:1.000 pfam_Axonemal_dynein_light_chain pfam_Axonemal_dynein_light_chain - no_errors DNALI1 HGNC ENSG00000163879 tier1 35 0 0.00 31 2 6.06 DNM1P47 0 genome.wustl.edu 37 15 102299761 102299761 + RNA SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 15 102299761 102299761 G A SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 - - 14 0 0.00 5 6 54.55 DPF3 0 genome.wustl.edu 37 14 73137681 73137681 + RNA DEL G G - TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 14 73137681 73137681 G - DEL DPF3 ENST00000557704 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DPF3 HGNC ENSG00000205683 tier1 32 0 0.00 14 2 12.50 DVL2 0 genome.wustl.edu 37 17 7130508 7130508 + Silent SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 17 7130508 7130508 G A SNP DVL2 ENST00000005340 human ensembl 74_37 -1 known silent c.1444 p.L482 1.000 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_2,prints_Dishevelled_fam - no_errors DVL2 HGNC ENSG00000004975 44 0 0.00 23 2 8.00 DYNC1LI2 0 genome.wustl.edu 37 16 66776515 66776515 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 16 66776515 66776515 G T SNP DYNC1LI2 ENST00000258198 human ensembl 74_37 -1 known missense c.355 p.L119M 1.000 pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase - no_errors DYNC1LI2 HGNC ENSG00000135720 tier1 - - 47 0 0.00 40 4 9.09 E2F7 0 genome.wustl.edu 37 12 77421832 77421832 + Silent SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 12 77421832 77421832 G A SNP E2F7 ENST00000322886 human ensembl 74_37 -1 known silent c.1971 p.G657 0.000 NULL pfam_E2F_TDP - no_errors E2F7 HGNC ENSG00000165891 60 0 0.00 30 2 6.25 EIF4A2 0 genome.wustl.edu 37 3 186503674 186503674 + Missense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 3 186503674 186503674 C T SNP EIF4A2 ENST00000443963 human ensembl 74_37 +1 known missense c.214 p.P72S 1.000 NULL superfamily_P-loop_NTPase,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A2 HGNC ENSG00000156976 40 0 0.00 36 3 7.69 EMID1 0 genome.wustl.edu 37 22 29627097 29627097 + Missense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 22 29627097 29627097 C T SNP EMID1 ENST00000334018 human ensembl 74_37 +1 known missense c.554 p.A185V 0.998 NULL pfam_Collagen,pfam_EMI_domain,pfscan_EMI_domain - no_errors EMID1 HGNC ENSG00000186998 47 0 0.00 37 2 5.13 ENPP3 0 genome.wustl.edu 37 6 131973681 131973681 + Splice_Site SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 6 131973681 131973681 G T SNP ENPP3 ENST00000357639 human ensembl 74_37 +1 known splice_site c.278-1 e4-1 1.000 - - - no_errors ENPP3 HGNC ENSG00000154269 tier1 - - 79 0 0.00 56 4 6.67 ENSG00000212085 0 genome.wustl.edu 37 18 26776475 26776475 + RNA SNP T T C TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 18 26776475 26776475 T C SNP ENSG00000212085 ENST00000390796 human ensembl 74_37 -1 novel rna NULL NULL 0.024 - - - no_errors AC105245.1 Clone_based_ensembl_gene ENSG00000212085 tier1 - - 76 0 0.00 16 32 66.67 ENSG00000216032 0 genome.wustl.edu 37 X 145072453 145072453 + RNA SNP T T G TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b X 145072453 145072453 T G SNP ENSG00000216032 ENST00000401213 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors AL445258.1 Clone_based_ensembl_gene ENSG00000216032 tier1 - - 27 0 0.00 12 17 58.62 ENSG00000221664 0 genome.wustl.edu 37 1 77857162 77857163 + RNA INS - - TGTA TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 1 77857162 77857163 - TGTA INS ENSG00000221664 ENST00000408737 human ensembl 74_37 -1 novel rna NULL NULL 0.991:0.991 - - - no_errors AC095030.1 Clone_based_ensembl_gene ENSG00000221664 tier1 46 0 0.00 39 7 15.22 ENSG00000232220 0 genome.wustl.edu 37 19 54379103 54379103 + RNA SNP C C A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 19 54379103 54379103 C A SNP ENSG00000232220 ENST00000413496 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC008440.5 Clone_based_vega_gene ENSG00000232220 tier1 rs75956082 - 30 0 0.00 13 5 27.78 ENSG00000244627 0 genome.wustl.edu 37 22 38766010 38766010 + RNA SNP C C A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 22 38766010 38766010 C A SNP ENSG00000244627 ENST00000381645 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors RP3-449O17.1 Clone_based_vega_gene ENSG00000244627 tier1 - - 78 0 0.00 46 4 8.00 ENSG00000254420 0 genome.wustl.edu 37 11 78154811 78154811 + RNA DEL A A - TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 11 78154811 78154811 A - DEL ENSG00000254420 ENST00000534168 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-452H21.1 Clone_based_vega_gene ENSG00000254420 tier1 24 0 0.00 21 4 16.00 ENSG00000258027 0 genome.wustl.edu 37 14 20146080 20146080 + RNA SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 14 20146080 20146080 G A SNP ENSG00000258027 ENST00000548261 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-597A11.1 Clone_based_vega_gene ENSG00000258027 tier1 rs201264404 - 21 0 0.00 11 4 26.67 EPB41L3 0 genome.wustl.edu 37 18 5433926 5433926 + Missense_Mutation SNP A A G TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 18 5433926 5433926 A G SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.800 p.V267A 1.000 pirsf_Band_41_protein,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 tier1 - - 62 0 0.00 70 25 26.04 EPHA5 0 genome.wustl.edu 37 4 66280141 66280141 + Silent SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 4 66280141 66280141 C T SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known silent c.1548 p.T516 0.836 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 tier1 - - 33 0 0.00 6 17 73.91 EPHX3 0 genome.wustl.edu 37 19 15341894 15341894 + Silent SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 19 15341894 15341894 C T SNP EPHX3 ENST00000221730 human ensembl 74_37 -1 known silent c.495 p.S165 0.999 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1 - no_errors EPHX3 HGNC ENSG00000105131 50 0 0.00 34 2 5.56 ERC2 0 genome.wustl.edu 37 3 56330140 56330140 + Silent SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 3 56330140 56330140 C T SNP ERC2 ENST00000288221 human ensembl 74_37 -1 known silent c.981 p.E327 0.981 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 tier1 - - 84 0 0.00 51 35 40.70 EVA1A 0 genome.wustl.edu 37 2 75720457 75720457 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 2 75720457 75720457 G T SNP EVA1A ENST00000233712 human ensembl 74_37 -1 known missense c.364 p.Q122K 1.000 NULL NULL - no_errors EVA1A HGNC ENSG00000115363 tier1 - - 43 0 0.00 29 13 30.95 FAM155A 0 genome.wustl.edu 37 13 108518848 108518848 + Missense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 13 108518848 108518848 C T SNP FAM155A ENST00000375915 human ensembl 74_37 -1 known missense c.97 p.E33K 1.000 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 tier1 - - 78 0 0.00 64 5 7.25 FAM170A 0 genome.wustl.edu 37 5 118969736 118969736 + Missense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 5 118969736 118969736 G A SNP FAM170A ENST00000515256 human ensembl 74_37 +1 known missense c.293 p.R98H 0.000 NULL NULL - no_errors FAM170A HGNC ENSG00000164334 76 0 0.00 48 3 5.88 FAM173B 0 genome.wustl.edu 37 5 10239369 10239369 + Frame_Shift_Del DEL A A - TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 5 10239369 10239369 A - DEL FAM173B ENST00000511437 human ensembl 74_37 -1 known frame_shift_del c.116 p.L39fs 0.000 NULL NULL - no_errors FAM173B HGNC ENSG00000150756 tier1 55 0 0.00 13 2 13.33 FAM179A 0 genome.wustl.edu 37 2 29222063 29222063 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 2 29222063 29222063 G T SNP FAM179A ENST00000379558 human ensembl 74_37 +1 known missense c.156 p.E52D 0.000 NULL pfam_CLASP_N_dom,superfamily_ARM-type_fold - no_errors FAM179A HGNC ENSG00000189350 tier1 - - 47 0 0.00 29 5 14.71 FARP2 0 genome.wustl.edu 37 2 242312706 242312706 + Splice_Site SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 2 242312706 242312706 G T SNP FARP2 ENST00000264042 human ensembl 74_37 +1 known splice_site c.183+1 e1+1 1.000 - - - no_errors FARP2 HGNC ENSG00000006607 tier1 - - 72 0 0.00 13 24 64.86 FAT2 0 genome.wustl.edu 37 5 150900870 150900870 + Missense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 5 150900870 150900870 G A SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.11284 p.R3762W 0.047 NULL pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 tier1 - - 28 0 0.00 7 16 69.57 FAT3 0 genome.wustl.edu 37 11 92531188 92531188 + Missense_Mutation SNP A A C TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 11 92531188 92531188 A C SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.5009 p.K1670T 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 41 0 0.00 11 17 60.71 FAT3 0 genome.wustl.edu 37 11 92534875 92534875 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 11 92534875 92534875 G T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.8696 p.G2899V 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 28 0 0.00 17 5 22.73 FAXC 0 genome.wustl.edu 37 6 99729193 99729193 + Silent SNP C C A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 6 99729193 99729193 C A SNP FAXC ENST00000389677 human ensembl 74_37 -1 known silent c.1077 p.L359 1.000 NULL superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors FAXC HGNC ENSG00000146267 tier1 - - 38 0 0.00 37 7 15.91 FCHO2 0 genome.wustl.edu 37 5 72377780 72377780 + Silent SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 5 72377780 72377780 G A SNP FCHO2 ENST00000341845 human ensembl 74_37 +1 known silent c.2151 p.T717 0.884 NULL pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom - no_errors FCHO2 HGNC ENSG00000157107 tier1 - - 92 0 0.00 20 22 52.38 FCRL2 0 genome.wustl.edu 37 1 157737249 157737249 + Missense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 1 157737249 157737249 C T SNP FCRL2 ENST00000361516 human ensembl 74_37 -1 known missense c.934 p.A312T 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL2 HGNC ENSG00000132704 tier1 - - 92 0 0.00 76 4 5.00 FKBP1A 0 genome.wustl.edu 37 20 1350376 1350376 + RNA SNP C C A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 20 1350376 1350376 C A SNP FKBP1A ENST00000460490 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FKBP1A HGNC ENSG00000088832 64 0 0.00 61 4 6.15 FREM3 0 genome.wustl.edu 37 4 144620507 144620507 + Missense_Mutation SNP A A C TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 4 144620507 144620507 A C SNP FREM3 ENST00000329798 human ensembl 74_37 -1 putative missense c.1322 p.L441R 0.972 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 tier1 - - 88 0 0.00 25 35 58.33 FRY 0 genome.wustl.edu 37 13 32735315 32735315 + Missense_Mutation SNP A A T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 13 32735315 32735315 A T SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.1819 p.T607S 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 tier1 - - 62 0 0.00 55 4 6.78 FSIP2 0 genome.wustl.edu 37 2 186672616 186672616 + Missense_Mutation SNP C C A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 2 186672616 186672616 C A SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.18850 p.P6284T 0.933 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 tier1 - - 98 0 0.00 53 4 7.02 GAB2 0 genome.wustl.edu 37 11 77991745 77991745 + Missense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 11 77991745 77991745 C T SNP GAB2 ENST00000361507 human ensembl 74_37 -1 known missense c.278 p.R93H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB2 HGNC ENSG00000033327 90 0 0.00 57 3 5.00 GABRB2 0 genome.wustl.edu 37 5 160721287 160721287 + Missense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 5 160721287 160721287 G A SNP GABRB2 ENST00000274547 human ensembl 74_37 -1 known missense c.1340 p.P447L 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel - no_errors GABRB2 HGNC ENSG00000145864 36 0 0.00 19 2 9.52 GABRB3 0 genome.wustl.edu 37 15 26793097 26793097 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 15 26793097 26793097 G T SNP GABRB3 ENST00000299267 human ensembl 74_37 -1 known missense c.1265 p.P422Q 0.999 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC ENSG00000166206 tier1 - - 33 0 0.00 14 21 60.00 GALNT12 0 genome.wustl.edu 37 9 101602293 101602293 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 9 101602293 101602293 G T SNP GALNT12 ENST00000375011 human ensembl 74_37 +1 known missense c.1222 p.G408W 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT12 HGNC ENSG00000119514 84 0 0.00 71 4 5.33 GFRA1 0 genome.wustl.edu 37 10 117853231 117853231 + Missense_Mutation SNP T T C TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 10 117853231 117853231 T C SNP GFRA1 ENST00000355422 human ensembl 74_37 -1 known missense c.997 p.K333E 1.000 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1 - no_errors GFRA1 HGNC ENSG00000151892 tier1 - - 53 0 0.00 23 12 34.29 GIPC3 0 genome.wustl.edu 37 19 3590156 3590156 + Missense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 19 3590156 3590156 G A SNP GIPC3 ENST00000322315 human ensembl 74_37 +1 known missense c.907 p.A303T 0.998 pirsf_UCP038083_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC3 HGNC ENSG00000179855 tier1 - - 52 0 0.00 25 4 13.79 GLS 0 genome.wustl.edu 37 2 191792160 191792160 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 2 191792160 191792160 G T SNP GLS ENST00000320717 human ensembl 74_37 +1 known missense c.1377 p.L459F 0.961 pfam_Glutaminase,superfamily_Beta-lactam/transpept-like,tigrfam_Glutaminase pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS HGNC ENSG00000115419 tier1 - - 95 0 0.00 74 4 5.13 GRM3 0 genome.wustl.edu 37 7 86416181 86416181 + Missense_Mutation SNP A A T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 7 86416181 86416181 A T SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known missense c.1073 p.K358M 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I 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_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 tier1 - - 44 0 0.00 26 4 13.33 GRSF1 0 genome.wustl.edu 37 4 71698910 71698910 + Missense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 4 71698910 71698910 C T SNP GRSF1 ENST00000254799 human ensembl 74_37 -1 known missense c.595 p.E199K 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors GRSF1 HGNC ENSG00000132463 39 0 0.00 37 2 5.13 HBD 0 genome.wustl.edu 37 11 5254265 5254265 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 11 5254265 5254265 G T SNP HBD ENST00000380299 human ensembl 74_37 -1 known missense c.373 p.P125T 0.584 superfamily_Globin-like,pfscan_Globin pfam_Globin,superfamily_Globin-like,prints_Haemoglobin_b,pfscan_Globin - no_errors HBD HGNC ENSG00000223609 tier1 - - 76 0 0.00 48 4 7.69 HCFC1 0 genome.wustl.edu 37 X 153222953 153222953 + Missense_Mutation SNP A A G TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b X 153222953 153222953 A G SNP HCFC1 ENST00000310441 human ensembl 74_37 -1 known missense c.2165 p.L722P 1.000 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 tier1 - - 50 0 0.00 46 4 8.00 HERC2P3 0 genome.wustl.edu 37 15 20644858 20644858 + RNA SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 15 20644858 20644858 G T SNP HERC2P3 ENST00000426501 human ensembl 74_37 -1 known rna NULL NULL 0.092 - - - no_errors HERC2P3 HGNC ENSG00000180229 tier1 - - 262 0 0.00 168 28 14.29 HMCN1 0 genome.wustl.edu 37 1 185878594 185878594 + Silent SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 1 185878594 185878594 G T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.747 p.V249 1.000 NULL 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 81 0 0.00 74 4 5.13 HOXA1 0 genome.wustl.edu 37 7 27135319 27135319 + Silent SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 7 27135319 27135319 G A SNP HOXA1 ENST00000343060 human ensembl 74_37 -1 known silent c.213 p.H71 0.999 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXA1 HGNC ENSG00000105991 tier1 rs2074398 - 65 0 0.00 67 5 6.94 HTR2A 0 genome.wustl.edu 37 13 47409764 47409764 + Missense_Mutation SNP C C A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 13 47409764 47409764 C A SNP HTR2A ENST00000378688 human ensembl 74_37 -1 known missense c.624 p.M208I 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_5HT2A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2A HGNC ENSG00000102468 tier1 - - 44 0 0.00 24 15 38.46 HTT 0 genome.wustl.edu 37 4 3162097 3162097 + Missense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 4 3162097 3162097 C T SNP HTT ENST00000355072 human ensembl 74_37 +1 known missense c.3842 p.A1281V 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 tier1 - - 80 0 0.00 48 4 7.69 IHH 0 genome.wustl.edu 37 2 219920495 219920495 + Missense_Mutation SNP T T C TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 2 219920495 219920495 T C SNP IHH ENST00000295731 human ensembl 74_37 -1 known missense c.670 p.R224G 0.902 pirsf_Hedgehog,pfam_Hint_dom,smart_Hint_dom_N,pfscan_Intein_splice_site pirsf_Hedgehog,pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,prints_Hedgehog,pfscan_Intein_splice_site - no_errors IHH HGNC ENSG00000163501 50 0 0.00 42 3 6.67 IL20 0 genome.wustl.edu 37 1 207041865 207041865 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 1 207041865 207041865 G T SNP IL20 ENST00000367096 human ensembl 74_37 +1 known missense c.487 p.G163W 1.000 pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core,smart_IL-10/19/20/24/26_fam,prints_IL-24 pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core,smart_IL-10/19/20/24/26_fam,prints_IL-20,prints_IL-24 - no_errors IL20 HGNC ENSG00000162891 tier1 - - 75 0 0.00 64 4 5.88 IL6ST 0 genome.wustl.edu 37 5 55236936 55236936 + Missense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 5 55236936 55236936 G A SNP IL6ST ENST00000336909 human ensembl 74_37 -1 known missense c.2731 p.R911W 0.250 NULL pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL6ST HGNC ENSG00000134352 tier1 - - 54 0 0.00 43 4 8.51 INHBA 0 genome.wustl.edu 37 7 41729788 41729788 + Nonsense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 7 41729788 41729788 G T SNP INHBA ENST00000242208 human ensembl 74_37 -1 known nonsense c.741 p.C247* 1.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu - no_errors INHBA HGNC ENSG00000122641 tier1 - - 46 0 0.00 50 4 7.41 INTS3 0 genome.wustl.edu 37 1 153723688 153723688 + Missense_Mutation SNP C C A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 1 153723688 153723688 C A SNP INTS3 ENST00000318967 human ensembl 74_37 +1 known missense c.702 p.D234E 1.000 NULL pfam_Int_cplx_su3 - no_errors INTS3 HGNC ENSG00000143624 tier1 - - 41 0 0.00 32 12 27.27 JARID2 0 genome.wustl.edu 37 6 15468930 15468930 + Missense_Mutation SNP A A T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 6 15468930 15468930 A T SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known missense c.651 p.K217N 0.958 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 58 0 0.00 32 2 5.88 KAT2B 0 genome.wustl.edu 37 3 20153121 20153121 + Silent SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 3 20153121 20153121 C T SNP KAT2B ENST00000263754 human ensembl 74_37 +1 known silent c.885 p.C295 0.996 pirsf_Hist_acetylase_PCAF,pfam_PCAF_N pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom - no_errors KAT2B HGNC ENSG00000114166 tier1 - - 73 0 0.00 43 8 15.69 KCNS2 0 genome.wustl.edu 37 8 99441035 99441035 + Silent SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 8 99441035 99441035 G T SNP KCNS2 ENST00000287042 human ensembl 74_37 +1 known silent c.828 p.V276 0.998 pfam_Ion_trans_dom pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS2 HGNC ENSG00000156486 56 0 0.00 69 4 5.48 KDR 0 genome.wustl.edu 37 4 55970908 55970908 + Missense_Mutation SNP T T C TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 4 55970908 55970908 T C SNP KDR ENST00000263923 human ensembl 74_37 -1 known missense c.1889 p.K630R 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-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_VEGFR2_rcpt - no_errors KDR HGNC ENSG00000128052 tier1 - - 52 0 0.00 53 4 7.02 KIAA1468 0 genome.wustl.edu 37 18 59888296 59888296 + Frame_Shift_Del DEL A A - TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 18 59888296 59888296 A - DEL KIAA1468 ENST00000256858 human ensembl 74_37 +1 known frame_shift_del c.643 p.K215fs 1.000 NULL pfam_HEAT,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation - no_errors KIAA1468 HGNC ENSG00000134444 tier1 69 0 0.00 10 2 16.67 KIR2DL1 0 genome.wustl.edu 37 19 55295113 55295113 + Missense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 19 55295113 55295113 G A SNP KIR2DL1 ENST00000336077 human ensembl 74_37 +1 known missense c.895 p.E299K 0.164 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL1 HGNC ENSG00000125498 tier1 - - 55 0 0.00 45 5 10.00 KLHL40 0 genome.wustl.edu 37 3 42730124 42730124 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 3 42730124 42730124 G T SNP KLHL40 ENST00000287777 human ensembl 74_37 +1 known missense c.1336 p.D446Y 1.000 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 KLHL40 HGNC ENSG00000157119 tier1 - - 61 0 0.00 51 4 7.27 KMT2D 0 genome.wustl.edu 37 12 49427264 49427264 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 12 49427264 49427264 G T SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.11224 p.Q3742K 0.998 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 44 0 0.00 28 2 6.67 KRT27 0 genome.wustl.edu 37 17 38937510 38937510 + Missense_Mutation SNP T T A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 17 38937510 38937510 T A SNP KRT27 ENST00000301656 human ensembl 74_37 -1 known missense c.457 p.T153S 0.762 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT27 HGNC ENSG00000171446 44 0 0.00 54 4 6.90 L2HGDH 0 genome.wustl.edu 37 14 50745270 50745270 + Missense_Mutation SNP T T A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 14 50745270 50745270 T A SNP L2HGDH ENST00000267436 human ensembl 74_37 -1 known missense c.706 p.M236L 0.934 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors L2HGDH HGNC ENSG00000087299 tier1 - - 93 0 0.00 59 4 6.35 LILRA1 0 genome.wustl.edu 37 19 55106867 55106867 + Nonsense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 19 55106867 55106867 G T SNP LILRA1 ENST00000453777 human ensembl 74_37 +1 novel nonsense c.661 p.G221* 0.760 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors LILRA1 HGNC ENSG00000104974 tier1 - - 85 0 0.00 37 39 51.32 LIMK2 0 genome.wustl.edu 37 22 31672776 31672777 + Frame_Shift_Ins INS - - C TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 22 31672776 31672777 - C INS LIMK2 ENST00000340552 human ensembl 74_37 +1 putative frame_shift_ins c.1711_1712 p.G574fs 0.995:0.996 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_PP1_inhibitor,pfam_PDZ,pfam_Znf_LIM,superfamily_Kinase-like_dom,superfamily_PP1_inhibitor,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK2 HGNC ENSG00000182541 tier1 48 0 0.00 19 10 34.48 LIMK2 0 genome.wustl.edu 37 22 31672776 31672776 + Missense_Mutation SNP G G C TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 22 31672776 31672776 G C SNP LIMK2 ENST00000340552 human ensembl 74_37 +1 putative missense c.1711 p.A571P 0.995 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_PP1_inhibitor,pfam_PDZ,pfam_Znf_LIM,superfamily_Kinase-like_dom,superfamily_PP1_inhibitor,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK2 HGNC ENSG00000182541 48 0 0.00 26 3 10.34 LPHN2 0 genome.wustl.edu 37 1 82416057 82416057 + Missense_Mutation SNP T T G TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 1 82416057 82416057 T G SNP LPHN2 ENST00000370717 human ensembl 74_37 +1 known missense c.1383 p.I461M 1.000 NULL pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 tier1 - - 67 0 0.00 25 24 48.98 LRP2 0 genome.wustl.edu 37 2 170094672 170094672 + Missense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 2 170094672 170094672 G A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.4435 p.R1479C 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_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 tier1 - - 62 0 0.00 49 18 26.87 MAML3 0 genome.wustl.edu 37 4 140811081 140811081 + Silent SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 4 140811081 140811081 C T SNP MAML3 ENST00000509479 human ensembl 74_37 -1 known silent c.1509 p.Q503 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 49 0 0.00 37 2 5.13 MARS2 0 genome.wustl.edu 37 2 198571905 198571905 + Silent SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 2 198571905 198571905 G T SNP MARS2 ENST00000282276 human ensembl 74_37 +1 known silent c.1776 p.R592 0.913 NULL pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS2 HGNC ENSG00000247626 tier1 - - 49 0 0.00 31 15 32.61 MC4R 0 genome.wustl.edu 37 18 58038855 58038855 + Frame_Shift_Del DEL C C - TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 18 58038855 58038855 C - DEL MC4R ENST00000299766 human ensembl 74_37 -1 known frame_shift_del c.728 p.G243fs 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_GPCR_Rhodpsn,prints_Melancort_rcpt,prints_Cnbnoid_rcpt - no_errors MC4R HGNC ENSG00000166603 tier1 43 0 0.00 10 2 16.67 MDFIC 0 genome.wustl.edu 37 7 114619635 114619635 + Missense_Mutation SNP A A G TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 7 114619635 114619635 A G SNP MDFIC ENST00000393486 human ensembl 74_37 +1 known missense c.292 p.N98D 1.000 NULL NULL - no_errors MDFIC HGNC ENSG00000135272 tier1 - - 50 0 0.00 23 9 28.12 MIR3613 0 genome.wustl.edu 37 13 50570604 50570605 + RNA INS - - A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 13 50570604 50570605 - A INS MIR3613 ENST00000579844 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors MIR3613 HGNC ENSG00000264864 tier1 30 0 0.00 33 3 8.33 MIR3613 0 genome.wustl.edu 37 13 50570605 50570605 + RNA DEL A A - TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 13 50570605 50570605 A - DEL MIR3613 ENST00000579844 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR3613 HGNC ENSG00000264864 tier1 29 0 0.00 32 4 11.11 MIR452 0 genome.wustl.edu 37 X 151128132 151128132 + RNA SNP A A C TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b X 151128132 151128132 A C SNP MIR452 ENST00000385020 human ensembl 74_37 -1 known rna NULL NULL 0.955 - - - no_errors MIR452 HGNC ENSG00000207753 tier1 - - 28 0 0.00 8 11 57.89 MT-ATP6 0 genome.wustl.edu 37 MT 9047 9047 + Missense_Mutation SNP T T C TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b MT 9047 9047 T C SNP MT-ATP6 ENST00000361899 human ensembl 74_37 +1 known missense c.521 p.I174T NULL pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu - no_errors MT-ATP6 HGNC ENSG00000198899 tier1 - - 34 0 0.00 1 2 66.67 MUC16 0 genome.wustl.edu 37 19 9066962 9066962 + Silent SNP A A G TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 19 9066962 9066962 A G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.20484 p.P6828 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 44 0 0.00 21 8 27.59 MUC5B 0 genome.wustl.edu 37 11 1256435 1256435 + Silent SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 11 1256435 1256435 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.2760 p.C920 1.000 pfam_VWF_type-D,smart_VWC_out,smart_VWF_C,smart_VWF_type-D 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 tier1 - - 69 0 0.00 22 47 68.12 MUC6 0 genome.wustl.edu 37 11 1017612 1017612 + Missense_Mutation SNP G G C TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 11 1017612 1017612 G C SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.5189 p.T1730S 0.003 NULL 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 tier1 - - 231 0 0.00 78 56 41.79 MYBPC2 0 genome.wustl.edu 37 19 50939932 50939932 + Missense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 19 50939932 50939932 G A SNP MYBPC2 ENST00000357701 human ensembl 74_37 +1 known missense c.404 p.R135H 1.000 pfam_Ig_I-set,smart_Ig_sub 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 MYBPC2 HGNC ENSG00000086967 tier1 - - 45 0 0.00 48 4 7.69 MYH7B 0 genome.wustl.edu 37 20 33584467 33584467 + Missense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 20 33584467 33584467 G A SNP MYH7B ENST00000262873 human ensembl 74_37 +1 novel missense c.3298 p.A1100T 0.998 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 30 0 0.00 74 4 5.13 NBEAL2 0 genome.wustl.edu 37 3 47036669 47036669 + Missense_Mutation SNP T T C TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 3 47036669 47036669 T C SNP NBEAL2 ENST00000450053 human ensembl 74_37 +1 known missense c.1444 p.C482R 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 tier1 - - 17 0 0.00 12 3 20.00 NDST2 0 genome.wustl.edu 37 10 75567398 75567398 + Missense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 10 75567398 75567398 G A SNP NDST2 ENST00000309979 human ensembl 74_37 -1 known missense c.749 p.P250L 0.120 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST2 HGNC ENSG00000166507 tier1 - - 46 0 0.00 24 4 14.29 NID1 0 genome.wustl.edu 37 1 236144956 236144956 + Missense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 1 236144956 236144956 G A SNP NID1 ENST00000264187 human ensembl 74_37 -1 known missense c.3182 p.T1061I 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 tier1 - - 34 0 0.00 38 18 32.14 NME5 0 genome.wustl.edu 37 5 137454539 137454539 + Missense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 5 137454539 137454539 C T SNP NME5 ENST00000265191 human ensembl 74_37 -1 known missense c.523 p.E175K 1.000 pfam_Dpy-30_motif,pirsf_NDK_H5 pfam_Nucleoside_diP_kinase,pfam_Dpy-30_motif,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK_H5,prints_Nucleoside_diP_kinase - no_errors NME5 HGNC ENSG00000112981 tier1 - - 40 0 0.00 13 17 56.67 NOTCH3 0 genome.wustl.edu 37 19 15290185 15290185 + Silent SNP T T A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 19 15290185 15290185 T A SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known silent c.3450 p.P1150 0.183 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_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 61 0 0.00 26 2 7.14 NUDCD1 0 genome.wustl.edu 37 8 110305697 110305697 + Silent SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 8 110305697 110305697 C T SNP NUDCD1 ENST00000239690 human ensembl 74_37 -1 known silent c.516 p.L172 0.992 NULL pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors NUDCD1 HGNC ENSG00000120526 35 0 0.00 69 4 5.48 OBSCN 0 genome.wustl.edu 37 1 228476017 228476017 + Missense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 1 228476017 228476017 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.10067 p.T3356I 0.092 smart_Ig_sub,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 tier1 - - 49 0 0.00 47 5 9.62 OR52A1 0 genome.wustl.edu 37 11 5173189 5173189 + Silent SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 11 5173189 5173189 G T SNP OR52A1 ENST00000328942 human ensembl 74_37 -1 known silent c.411 p.I137 1.000 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 OR52A1 HGNC ENSG00000182070 tier1 - - 20 0 0.00 4 11 73.33 OR5K4 0 genome.wustl.edu 37 3 98072886 98072886 + Silent SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 3 98072886 98072886 G T SNP OR5K4 ENST00000354924 human ensembl 74_37 +1 known silent c.189 p.L63 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5K4 HGNC ENSG00000196098 tier1 - - 86 0 0.00 46 5 9.80 OR5M9 0 genome.wustl.edu 37 11 56230198 56230198 + Missense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 11 56230198 56230198 C T SNP OR5M9 ENST00000279791 human ensembl 74_37 -1 known missense c.680 p.R227H 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M9 HGNC ENSG00000150269 tier1 - - 35 0 0.00 5 11 68.75 OR8S1 0 genome.wustl.edu 37 12 48920224 48920224 + Missense_Mutation SNP G G C TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 12 48920224 48920224 G C SNP OR8S1 ENST00000310194 human ensembl 74_37 +1 known missense c.810 p.L270F 0.001 pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8S1 HGNC ENSG00000197376 tier1 - - 46 0 0.00 38 5 11.63 OSBPL11 0 genome.wustl.edu 37 3 125286337 125286337 + Missense_Mutation SNP G G C TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 3 125286337 125286337 G C SNP OSBPL11 ENST00000296220 human ensembl 74_37 -1 known missense c.769 p.L257V 1.000 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL11 HGNC ENSG00000144909 tier1 - - 74 0 0.00 32 5 13.51 OTUD6B 0 genome.wustl.edu 37 8 92090640 92090640 + Silent SNP T T C TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 8 92090640 92090640 T C SNP OTUD6B ENST00000285420 human ensembl 74_37 +1 known silent c.462 p.I154 1.000 NULL pfam_OTU,pfam_Peptidase_C65_otubain,pfscan_OTU - no_errors OTUD6B HGNC ENSG00000155100 tier1 - - 65 0 0.00 44 41 48.24 PAQR6 0 genome.wustl.edu 37 1 156213678 156213679 + Frame_Shift_Del DEL CT CT - TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 1 156213678 156213679 CT - DEL PAQR6 ENST00000335852 human ensembl 74_37 -1 known frame_shift_del c.1030_1029 p.E345fs 0.387:0.383 NULL pfam_HlyIII-related - no_errors PAQR6 HGNC ENSG00000160781 tier1 91 0 0.00 34 40 54.05 PCDH11Y 0 genome.wustl.edu 37 Y 4924899 4924899 + Frame_Shift_Del DEL C C - TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b Y 4924899 4924899 C - DEL PCDH11Y ENST00000215473 human ensembl 74_37 +1 known frame_shift_del c.35 p.S13fs 0.001 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11Y HGNC ENSG00000099715 tier1 46 0 0.00 10 2 16.67 PCDH12 0 genome.wustl.edu 37 5 141335264 141335264 + Missense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 5 141335264 141335264 G A SNP PCDH12 ENST00000231484 human ensembl 74_37 -1 known missense c.2153 p.T718M 0.493 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 28 0 0.00 26 2 7.14 PCDH20 0 genome.wustl.edu 37 13 61986458 61986458 + Missense_Mutation SNP T T C TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 13 61986458 61986458 T C SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known missense c.1774 p.T592A 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 tier1 - - 24 0 0.00 13 8 38.10 PCDHB8 0 genome.wustl.edu 37 5 140558518 140558518 + Missense_Mutation SNP A A C TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 5 140558518 140558518 A C SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known missense c.903 p.E301D 0.994 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 PCDHB8 HGNC ENSG00000120322 tier1 - - 165 0 0.00 110 30 21.43 PCDHGA3 0 genome.wustl.edu 37 5 140725370 140725370 + Silent SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 5 140725370 140725370 G A SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known silent c.1770 p.K590 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 tier1 - - 165 0 0.00 68 53 43.80 PCNP 0 genome.wustl.edu 37 3 101311691 101311692 + RNA INS - - T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 3 101311691 101311692 - T INS PCNP ENST00000486406 human ensembl 74_37 +1 known rna NULL NULL 0.740:0.864 - - - no_errors PCNP HGNC ENSG00000081154 tier1 73 0 0.00 37 4 9.76 PDE10A 0 genome.wustl.edu 37 6 165827032 165827032 + Missense_Mutation SNP T T A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 6 165827032 165827032 T A SNP PDE10A ENST00000539869 human ensembl 74_37 -1 known missense c.1235 p.K412I 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC ENSG00000112541 tier1 - - 62 0 0.00 36 7 16.28 PEG3 0 genome.wustl.edu 37 19 57325627 57325627 + Missense_Mutation SNP C C A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 19 57325627 57325627 C A SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.4183 p.A1395S 1.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 tier1 - - 84 0 0.00 59 32 35.16 PHLDB1 0 genome.wustl.edu 37 11 118516323 118516323 + Missense_Mutation SNP T T C TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 11 118516323 118516323 T C SNP PHLDB1 ENST00000361417 human ensembl 74_37 +1 known missense c.3371 p.I1124T 1.000 NULL pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC ENSG00000019144 62 0 0.00 53 3 5.36 PHRF1 0 genome.wustl.edu 37 11 608012 608012 + Silent SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 11 608012 608012 C T SNP PHRF1 ENST00000264555 human ensembl 74_37 +1 known silent c.2556 p.P852 0.000 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 58 0 0.00 24 3 11.11 PKHD1 0 genome.wustl.edu 37 6 51524568 51524568 + Silent SNP A A C TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 6 51524568 51524568 A C SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known silent c.10356 p.T3452 0.000 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 tier1 - - 55 0 0.00 27 19 41.30 PNO1 0 genome.wustl.edu 37 2 68389786 68389786 + Nonsense_Mutation SNP T T A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 2 68389786 68389786 T A SNP PNO1 ENST00000263657 human ensembl 74_37 +1 known nonsense c.611 p.L204* 1.000 pfam_KH_dom_type_1,smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom - no_errors PNO1 HGNC ENSG00000115946 88 0 0.00 62 4 6.06 PPIL3 0 genome.wustl.edu 37 2 201750486 201750486 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 2 201750486 201750486 G T SNP PPIL3 ENST00000286175 human ensembl 74_37 -1 known missense c.13 p.L5M 0.971 superfamily_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL3 HGNC ENSG00000240344 tier1 - - 28 0 0.00 32 4 11.11 PPP1R32 0 genome.wustl.edu 37 11 61253310 61253310 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 11 61253310 61253310 G T SNP PPP1R32 ENST00000338608 human ensembl 74_37 +1 known missense c.614 p.S205I 0.704 NULL NULL - no_errors PPP1R32 HGNC ENSG00000162148 tier1 - - 36 0 0.00 39 4 9.30 PRIM2 0 genome.wustl.edu 37 6 57467188 57467188 + RNA SNP A A C TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 6 57467188 57467188 A C SNP PRIM2 ENST00000389488 human ensembl 74_37 +1 known rna NULL NULL 0.819 - - - no_errors PRIM2 HGNC ENSG00000146143 tier1 - - 169 0 0.00 137 24 14.91 PRPF19 0 genome.wustl.edu 37 11 60666044 60666044 + Missense_Mutation SNP A A T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 11 60666044 60666044 A T SNP PRPF19 ENST00000227524 human ensembl 74_37 -1 known missense c.1109 p.M370K 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_Ricin_B_lectin,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_Pre-mRNA_splic_Prp19,pfam_Ubox_domain,superfamily_WD40_repeat_dom,smart_Ubox_domain,smart_WD40_repeat,pfscan_Ricin_B_lectin,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF19 HGNC ENSG00000110107 tier1 - - 45 0 0.00 28 4 12.12 PRPF4B 0 genome.wustl.edu 37 6 4057243 4057243 + RNA SNP A A G TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 6 4057243 4057243 A G SNP PRPF4B ENST00000466185 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PRPF4B HGNC ENSG00000112739 tier1 - - 90 0 0.00 34 36 51.43 PRR16 0 genome.wustl.edu 37 5 120022198 120022198 + Missense_Mutation SNP C C A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 5 120022198 120022198 C A SNP PRR16 ENST00000407149 human ensembl 74_37 +1 known missense c.709 p.P237T 1.000 NULL NULL - no_errors PRR16 HGNC ENSG00000184838 tier1 - - 50 0 0.00 27 8 22.86 PRR23A 0 genome.wustl.edu 37 3 138724343 138724343 + Silent SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 3 138724343 138724343 C T SNP PRR23A ENST00000383163 human ensembl 74_37 -1 known silent c.768 p.P256 0.000 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23A HGNC ENSG00000206260 tier1 - - 93 0 0.00 52 6 10.34 PSMC5 0 genome.wustl.edu 37 17 61905527 61905527 + Silent SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 17 61905527 61905527 C T SNP PSMC5 ENST00000310144 human ensembl 74_37 +1 known silent c.54 p.S18 0.998 NULL pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,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 PSMC5 HGNC ENSG00000087191 tier1 - - 51 0 0.00 30 4 11.76 PSMF1 0 genome.wustl.edu 37 20 1115834 1115834 + Missense_Mutation SNP T T C TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 20 1115834 1115834 T C SNP PSMF1 ENST00000333082 human ensembl 74_37 +1 known missense c.436 p.W146R 0.566 pfam_FP_dom pfam_FP_dom,pfam_PI31_Prot_Reg - no_errors PSMF1 HGNC ENSG00000125818 tier1 - - 54 0 0.00 58 4 6.45 RARS 0 genome.wustl.edu 37 5 167946086 167946086 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 5 167946086 167946086 G T SNP RARS ENST00000231572 human ensembl 74_37 +1 known missense c.1874 p.G625V 1.000 pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd,tigrfam_Arg-tRNA-ligase_Ia pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,pfam_Arg-tRNA-synth_N,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia - no_errors RARS HGNC ENSG00000113643 tier1 - - 53 0 0.00 55 4 6.78 RBM20 0 genome.wustl.edu 37 10 112572140 112572140 + Missense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 10 112572140 112572140 C T SNP RBM20 ENST00000369519 human ensembl 74_37 +1 known missense c.1985 p.P662L 0.015 NULL smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors RBM20 HGNC ENSG00000203867 tier1 - - 37 0 0.00 16 6 27.27 RCC1 0 genome.wustl.edu 37 1 28864449 28864449 + Missense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 1 28864449 28864449 G A SNP RCC1 ENST00000373831 human ensembl 74_37 +1 known missense c.1289 p.R430H 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCC1 HGNC ENSG00000180198 tier1 - - 55 0 0.00 46 4 8.00 RGPD4 0 genome.wustl.edu 37 2 108488228 108488228 + Missense_Mutation SNP A A C TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 2 108488228 108488228 A C SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known missense c.3768 p.E1256D 0.994 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 tier1 - - 197 0 0.00 133 73 35.44 RIF1 0 genome.wustl.edu 37 2 152326341 152326341 + Missense_Mutation SNP A A T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 2 152326341 152326341 A T SNP RIF1 ENST00000243326 human ensembl 74_37 +1 known missense c.7058 p.N2353I 1.000 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 48 0 0.00 56 3 5.08 RNF5 0 genome.wustl.edu 37 6 32147865 32147865 + Missense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 6 32147865 32147865 C T SNP RNF5 ENST00000427134 human ensembl 74_37 +1 known missense c.407 p.T136I 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF5 HGNC ENSG00000204308 33 0 0.00 20 2 9.09 ROBO1 0 genome.wustl.edu 37 3 78734979 78734979 + Missense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 3 78734979 78734979 C T SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known missense c.1259 p.R420Q 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,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,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 ROBO1 HGNC ENSG00000169855 60 0 0.00 34 2 5.56 RREB1 0 genome.wustl.edu 37 6 7230280 7230280 + Nonsense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 6 7230280 7230280 C T SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known nonsense c.1948 p.Q650* 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 tier1 - - 62 0 0.00 12 16 57.14 RUFY1 0 genome.wustl.edu 37 5 178987059 178987059 + Missense_Mutation SNP A A T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 5 178987059 178987059 A T SNP RUFY1 ENST00000319449 human ensembl 74_37 +1 known missense c.344 p.N115I 1.000 NULL pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel,pfscan_Znf_RING - no_errors RUFY1 HGNC ENSG00000176783 tier1 - - 41 0 0.00 16 33 67.35 RYR1 0 genome.wustl.edu 37 19 38979876 38979876 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 19 38979876 38979876 G T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.5607 p.E1869D 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,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 48 0 0.00 43 3 6.52 SAMD4B 0 genome.wustl.edu 37 19 39866396 39866396 + Silent SNP C C A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 19 39866396 39866396 C A SNP SAMD4B ENST00000314471 human ensembl 74_37 +1 known silent c.774 p.A258 0.998 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4B HGNC ENSG00000179134 54 0 0.00 52 3 5.45 SCN7A 0 genome.wustl.edu 37 2 167334116 167334116 + Nonsense_Mutation SNP C C A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 2 167334116 167334116 C A SNP SCN7A ENST00000409855 human ensembl 74_37 -1 known nonsense c.91 p.E31* 0.974 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 tier1 - - 43 0 0.00 46 8 14.81 SCN8A 0 genome.wustl.edu 37 12 52080158 52080158 + Silent SNP T T C TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 12 52080158 52080158 T C SNP SCN8A ENST00000354534 human ensembl 74_37 +1 known silent c.402 p.F134 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 tier1 - - 105 0 0.00 40 4 9.09 SEC14L6 0 genome.wustl.edu 37 22 30925140 30925140 + Missense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 22 30925140 30925140 C T SNP SEC14L6 ENST00000402034 human ensembl 74_37 -1 novel missense c.598 p.V200I 0.358 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L6 HGNC ENSG00000214491 tier1 - - 47 0 0.00 27 4 12.90 SEMA3B 0 genome.wustl.edu 37 3 50314577 50314577 + RNA SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 3 50314577 50314577 G A SNP SEMA3B ENST00000418948 human ensembl 74_37 +1 known rna NULL NULL 0.594 - - - no_errors SEMA3B HGNC ENSG00000012171 tier1 - - 63 0 0.00 35 7 16.67 SEMA3D 0 genome.wustl.edu 37 7 84628715 84628715 + RNA SNP T T G TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 7 84628715 84628715 T G SNP SEMA3D ENST00000484038 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SEMA3D HGNC ENSG00000153993 tier1 - - 35 0 0.00 18 4 18.18 SEMA3D 0 genome.wustl.edu 37 7 84629130 84629130 + Missense_Mutation SNP T T G TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 7 84629130 84629130 T G SNP SEMA3D ENST00000284136 human ensembl 74_37 -1 known missense c.1960 p.S654R 1.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Semap_dom,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3D HGNC ENSG00000153993 39 0 0.00 22 6 21.43 SERAC1 0 genome.wustl.edu 37 6 158535893 158535893 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 6 158535893 158535893 G T SNP SERAC1 ENST00000367104 human ensembl 74_37 -1 known missense c.1612 p.R538S 0.980 pfam_PGAP1-like pfam_PGAP1-like,superfamily_ARM-type_fold - no_errors SERAC1 HGNC ENSG00000122335 tier1 - - 77 0 0.00 72 4 5.26 SERPINB1 0 genome.wustl.edu 37 6 2833852 2833852 + Missense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 6 2833852 2833852 G A SNP SERPINB1 ENST00000380739 human ensembl 74_37 -1 known missense c.1130 p.S377F 0.033 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB1 HGNC ENSG00000021355 42 0 0.00 21 2 8.70 SH2D3C 0 genome.wustl.edu 37 9 130509456 130509456 + Missense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 9 130509456 130509456 C T SNP SH2D3C ENST00000314830 human ensembl 74_37 -1 known missense c.1234 p.E412K 1.000 NULL pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors SH2D3C HGNC ENSG00000095370 tier1 - - 55 0 0.00 13 34 72.34 SHROOM4 0 genome.wustl.edu 37 X 50377488 50377488 + Missense_Mutation SNP C C A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b X 50377488 50377488 C A SNP SHROOM4 ENST00000289292 human ensembl 74_37 -1 known missense c.1585 p.A529S 0.895 NULL pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 tier1 - - 35 0 0.00 22 10 31.25 SIN3A 0 genome.wustl.edu 37 15 75676691 75676691 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 15 75676691 75676691 G T SNP SIN3A ENST00000360439 human ensembl 74_37 -1 known missense c.3109 p.L1037M 1.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3A HGNC ENSG00000169375 tier1 - - 78 0 0.00 50 4 7.41 SLC13A3 0 genome.wustl.edu 37 20 45204264 45204264 + Nonsense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 20 45204264 45204264 C T SNP SLC13A3 ENST00000279027 human ensembl 74_37 -1 known nonsense c.1280 p.W427* 1.000 pfam_Na/sul_symport,pfam_Cit_transptr-like_dom pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A3 HGNC ENSG00000158296 tier1 - - 56 0 0.00 69 4 5.48 SLC27A4 0 genome.wustl.edu 37 9 131117388 131117388 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 9 131117388 131117388 G T SNP SLC27A4 ENST00000300456 human ensembl 74_37 +1 known missense c.1381 p.D461Y 0.998 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A4 HGNC ENSG00000167114 69 0 0.00 54 3 5.26 SLC35B2 0 genome.wustl.edu 37 6 44224561 44224561 + Missense_Mutation SNP C C G TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 6 44224561 44224561 C G SNP SLC35B2 ENST00000393812 human ensembl 74_37 -1 known missense c.66 p.E22D 0.060 NULL pfam_UAA,pfam_DMT - no_errors SLC35B2 HGNC ENSG00000157593 tier1 - - 86 0 0.00 206 27 11.59 SLC37A2 0 genome.wustl.edu 37 11 124946707 124946707 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 11 124946707 124946707 G T SNP SLC37A2 ENST00000308074 human ensembl 74_37 +1 known missense c.114 p.M38I 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A2 HGNC ENSG00000134955 tier1 - - 61 0 0.00 26 34 56.67 SLC4A3 0 genome.wustl.edu 37 2 220501511 220501511 + Missense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 2 220501511 220501511 G A SNP SLC4A3 ENST00000273063 human ensembl 74_37 +1 known missense c.2531 p.R844H 1.000 pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 tier1 - - 51 0 0.00 34 12 26.09 SLC7A13 0 genome.wustl.edu 37 8 87242065 87242065 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 8 87242065 87242065 G T SNP SLC7A13 ENST00000297524 human ensembl 74_37 -1 known missense c.442 p.L148M 0.853 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A13 HGNC ENSG00000164893 tier1 - - 42 0 0.00 34 14 29.17 SLCO1C1 0 genome.wustl.edu 37 12 20874909 20874909 + Missense_Mutation SNP A A G TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 12 20874909 20874909 A G SNP SLCO1C1 ENST00000381552 human ensembl 74_37 +1 known missense c.947 p.K316R 0.988 pfam_OA_transporter,pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC ENSG00000139155 tier1 - - 58 0 0.00 23 5 17.86 SMC4 0 genome.wustl.edu 37 3 160148955 160148955 + Missense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 3 160148955 160148955 G A SNP SMC4 ENST00000344722 human ensembl 74_37 +1 known missense c.3076 p.A1026T 0.384 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 tier1 - - 82 0 0.00 59 4 6.35 SNORD116-20 0 genome.wustl.edu 37 15 25333040 25333040 + RNA SNP T T A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 15 25333040 25333040 T A SNP SNORD116-20 ENST00000567527 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD116-20 HGNC ENSG00000261069 tier1 - - 31 0 0.00 17 7 29.17 SOX8 0 genome.wustl.edu 37 16 1032188 1032190 + In_Frame_Del DEL GCG GCG - TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 GCG GCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 16 1032188 1032190 GCG - DEL SOX8 ENST00000293894 human ensembl 74_37 +1 known in_frame_del c.266_268 p.G93in_frame_del 0.983:0.601:0.997 superfamily_HMG_box_dom pfam_HMG_box_dom,pfam_Sox_N,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX8 HGNC ENSG00000005513 tier1 33 0 0.00 21 5 19.23 SP6 0 genome.wustl.edu 37 17 45925335 45925335 + Missense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 17 45925335 45925335 C T SNP SP6 ENST00000342234 human ensembl 74_37 -1 known missense c.461 p.G154D 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP6 HGNC ENSG00000189120 30 0 0.00 25 2 7.41 SPAG8 0 genome.wustl.edu 37 9 35811298 35811298 + Nonsense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 9 35811298 35811298 G A SNP SPAG8 ENST00000340291 human ensembl 74_37 -1 known nonsense c.745 p.Q249* 0.965 NULL prints_Antifreeze_1 - no_errors SPAG8 HGNC ENSG00000137098 tier1 - - 92 0 0.00 69 4 5.48 SPATA31A3 0 genome.wustl.edu 37 9 40702724 40702724 + Silent SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 9 40702724 40702724 C T SNP SPATA31A3 ENST00000356699 human ensembl 74_37 +1 known silent c.381 p.G127 0.000 NULL NULL - no_errors SPATA31A3 HGNC ENSG00000147926 tier1 - - 145 0 0.00 33 11 25.00 SPG20 0 genome.wustl.edu 37 13 36909223 36909223 + Nonsense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 13 36909223 36909223 G A SNP SPG20 ENST00000355182 human ensembl 74_37 -1 known nonsense c.745 p.R249* 1.000 NULL pfam_Senescence/spartin,pfam_MIT,smart_MIT - no_errors SPG20 HGNC ENSG00000133104 tier1 - - 67 0 0.00 35 18 33.96 SRBD1 0 genome.wustl.edu 37 2 45826866 45826866 + Missense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 2 45826866 45826866 G A SNP SRBD1 ENST00000263736 human ensembl 74_37 -1 known missense c.370 p.P124S 0.004 NULL pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SRBD1 HGNC ENSG00000068784 tier1 - - 47 0 0.00 44 4 8.33 SSTR5 0 genome.wustl.edu 37 16 1129612 1129612 + Silent SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 16 1129612 1129612 C T SNP SSTR5 ENST00000293897 human ensembl 74_37 +1 known silent c.744 p.R248 0.985 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt_5,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt - no_errors SSTR5 HGNC ENSG00000162009 tier1 - - 136 0 0.00 30 54 64.29 ST6GALNAC5 0 genome.wustl.edu 37 1 77515986 77515986 + Missense_Mutation SNP A A G TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 1 77515986 77515986 A G SNP ST6GALNAC5 ENST00000477717 human ensembl 74_37 +1 known missense c.715 p.T239A 0.996 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GALNAC5 HGNC ENSG00000117069 36 0 0.00 50 4 7.41 STAG1 0 genome.wustl.edu 37 3 136141317 136141317 + Silent SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 3 136141317 136141317 G T SNP STAG1 ENST00000383202 human ensembl 74_37 -1 known silent c.1972 p.R658 1.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 42 0 0.00 32 2 5.88 STRIP2 0 genome.wustl.edu 37 7 129125630 129125630 + Missense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 7 129125630 129125630 C T SNP STRIP2 ENST00000249344 human ensembl 74_37 +1 known missense c.2465 p.S822L 1.000 NULL pfam_DUF3402,pfam_N1221 - no_errors STRIP2 HGNC ENSG00000128578 tier1 - - 42 0 0.00 18 14 43.75 SUN2 0 genome.wustl.edu 37 22 39132347 39132347 + Silent SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 22 39132347 39132347 C T SNP SUN2 ENST00000216064 human ensembl 74_37 -1 known silent c.2079 p.R693 0.987 pfam_Sad1_UNC_C,superfamily_Galactose-bd-like pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN2 HGNC ENSG00000100242 37 0 0.00 22 2 8.33 SUPT20H 0 genome.wustl.edu 37 13 37603914 37603914 + Silent SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 13 37603914 37603914 G T SNP SUPT20H ENST00000350612 human ensembl 74_37 -1 known silent c.981 p.V327 0.979 NULL pfam_Spt20 - no_errors SUPT20H HGNC ENSG00000102710 tier1 - - 59 0 0.00 41 4 8.89 SUPT6H 0 genome.wustl.edu 37 17 27009801 27009801 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 17 27009801 27009801 G T SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known missense c.1654 p.D552Y 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 65 0 0.00 54 4 6.90 SURF6 0 genome.wustl.edu 37 9 136199155 136199155 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 9 136199155 136199155 G T SNP SURF6 ENST00000372022 human ensembl 74_37 -1 known missense c.636 p.S212R 0.978 pfam_Surf6 pfam_Surf6 - no_errors SURF6 HGNC ENSG00000148296 tier1 - - 46 0 0.00 51 4 7.27 SV2A 0 genome.wustl.edu 37 1 149879320 149879320 + Missense_Mutation SNP T T C TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 1 149879320 149879320 T C SNP SV2A ENST00000369146 human ensembl 74_37 -1 known missense c.1610 p.E537G 1.000 pfscan_MFS_dom,tigrfam_SV2 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2A HGNC ENSG00000159164 tier1 - - 61 0 0.00 63 4 5.97 SYTL1 0 genome.wustl.edu 37 1 27678010 27678010 + Missense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 1 27678010 27678010 C T SNP SYTL1 ENST00000543823 human ensembl 74_37 +1 known missense c.1307 p.P436L 0.858 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ - no_errors SYTL1 HGNC ENSG00000142765 tier1 - - 106 0 0.00 75 9 10.71 TACO1 0 genome.wustl.edu 37 17 61683719 61683719 + Missense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 17 61683719 61683719 G A SNP TACO1 ENST00000258975 human ensembl 74_37 +1 known missense c.434 p.G145D 1.000 pfam_Transcrip_reg_TACO1-like pfam_Transcrip_reg_TACO1-like - no_errors TACO1 HGNC ENSG00000136463 tier1 - - 81 0 0.00 61 4 6.15 TBATA 0 genome.wustl.edu 37 10 72532015 72532015 + RNA SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 10 72532015 72532015 C T SNP TBATA ENST00000394982 human ensembl 74_37 -1 known rna NULL NULL 0.024 - - - no_errors TBATA HGNC ENSG00000166220 tier1 - - 72 0 0.00 27 14 34.15 TBC1D14 0 genome.wustl.edu 37 4 7012499 7012499 + Silent SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 4 7012499 7012499 C T SNP TBC1D14 ENST00000409757 human ensembl 74_37 +1 known silent c.1638 p.D546 1.000 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 TBC1D14 HGNC ENSG00000132405 114 0 0.00 76 4 5.00 TDP1 0 genome.wustl.edu 37 14 90429605 90429605 + Silent SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 14 90429605 90429605 C T SNP TDP1 ENST00000335725 human ensembl 74_37 +1 known silent c.147 p.S49 0.166 NULL pfam_Tyr-DNA_phospho - no_errors TDP1 HGNC ENSG00000042088 tier1 - - 41 0 0.00 15 29 65.91 TET3 0 genome.wustl.edu 37 2 74327581 74327581 + Silent SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 2 74327581 74327581 G A SNP TET3 ENST00000409262 human ensembl 74_37 +1 known silent c.3261 p.P1087 0.041 NULL NULL - no_errors TET3 HGNC ENSG00000187605 tier1 - - 44 0 0.00 28 12 30.00 THNSL2 0 genome.wustl.edu 37 2 88474188 88474188 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 2 88474188 88474188 G T SNP THNSL2 ENST00000324166 human ensembl 74_37 +1 known missense c.254 p.R85L 0.987 superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like - no_errors THNSL2 HGNC ENSG00000144115 tier1 - - 71 0 0.00 64 5 7.25 TIGD2 0 genome.wustl.edu 37 4 90035297 90035297 + Missense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 4 90035297 90035297 G A SNP TIGD2 ENST00000317005 human ensembl 74_37 +1 known missense c.1172 p.G391D 0.014 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD2 HGNC ENSG00000180346 tier1 - - 24 0 0.00 19 3 13.64 TLN2 0 genome.wustl.edu 37 15 63088482 63088482 + Missense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 15 63088482 63088482 G A SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known missense c.6040 p.A2014T 1.000 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_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 TLN2 HGNC ENSG00000171914 tier1 - - 58 0 0.00 51 6 10.53 TLN2 0 genome.wustl.edu 37 15 63000913 63000913 + Silent SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 15 63000913 63000913 C T SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known silent c.2385 p.G795 0.268 NULL pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_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 TLN2 HGNC ENSG00000171914 22 0 0.00 14 2 12.50 TMEM132C 0 genome.wustl.edu 37 12 129181847 129181847 + Missense_Mutation SNP T T G TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 12 129181847 129181847 T G SNP TMEM132C ENST00000435159 human ensembl 74_37 +1 known missense c.2008 p.L670V 0.997 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 tier1 - - 29 0 0.00 27 4 12.90 TP53 0 genome.wustl.edu 37 17 7578401 7578402 + In_Frame_Ins INS - - GCA TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 17 7578401 7578402 - GCA INS TP53 ENST00000269305 human ensembl 74_37 -1 known in_frame_ins c.529_528 p.176in_frame_insC 1.000:0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 33 0 0.00 19 22 53.66 TP53 0 genome.wustl.edu 37 17 7577102 7577102 + Missense_Mutation SNP C C A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 17 7577102 7577102 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.836 p.G279V 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 40 0 0.00 33 3 8.33 TP63 0 genome.wustl.edu 37 3 189584487 189584487 + Silent SNP T T C TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 3 189584487 189584487 T C SNP TP63 ENST00000264731 human ensembl 74_37 +1 known silent c.783 p.P261 0.991 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC ENSG00000073282 tier1 - - 74 0 0.00 45 4 8.16 TRAK1 0 genome.wustl.edu 37 3 42244054 42244054 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 3 42244054 42244054 G T SNP TRAK1 ENST00000396175 human ensembl 74_37 +1 known missense c.1380 p.E460D 1.000 pfam_Traffickng_kinesin-bd_prot_dom pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 tier1 - - 68 0 0.00 55 4 6.78 TRAT1 0 genome.wustl.edu 37 3 108549545 108549545 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 3 108549545 108549545 G T SNP TRAT1 ENST00000295756 human ensembl 74_37 +1 known missense c.36 p.W12C 1.000 NULL NULL - no_errors TRAT1 HGNC ENSG00000163519 tier1 - - 92 0 0.00 61 4 6.15 TRPC3 0 genome.wustl.edu 37 4 122800993 122800993 + Silent SNP A A T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 4 122800993 122800993 A T SNP TRPC3 ENST00000379645 human ensembl 74_37 -1 known silent c.2664 p.R888 0.911 superfamily_ARM-type_fold,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,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 tier1 - - 49 0 0.00 20 3 13.04 TSC1 0 genome.wustl.edu 37 9 135772688 135772688 + Missense_Mutation SNP C C A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 9 135772688 135772688 C A SNP TSC1 ENST00000298552 human ensembl 74_37 -1 known missense c.2858 p.R953M 1.000 NULL pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC ENSG00000165699 50 0 0.00 42 3 6.67 TTC21B 0 genome.wustl.edu 37 2 166771920 166771920 + Silent SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 2 166771920 166771920 G T SNP TTC21B ENST00000243344 human ensembl 74_37 -1 known silent c.1929 p.A643 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC ENSG00000123607 58 0 0.00 71 4 5.33 TTC40 0 genome.wustl.edu 37 10 134738356 134738356 + Missense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 10 134738356 134738356 G A SNP TTC40 ENST00000368582 human ensembl 74_37 -1 known missense c.1100 p.A367V 0.000 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 tier1 - - 19 0 0.00 10 4 28.57 TYMS 0 genome.wustl.edu 37 18 670755 670755 + Missense_Mutation SNP A A G TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 18 670755 670755 A G SNP TYMS ENST00000323274 human ensembl 74_37 +1 known missense c.620 p.E207G 1.000 pfam_Thymidylate_synthase,superfamily_Thymidate_synth/dCMP_Mease,tigrfam_Thymidylate_synthase pfam_Thymidylate_synthase,superfamily_Thymidate_synth/dCMP_Mease,prints_Thymidylate_synthase,tigrfam_Thymidylate_synthase - no_errors TYMS HGNC ENSG00000176890 48 0 0.00 42 4 8.70 UBAC1 0 genome.wustl.edu 37 9 138830109 138830109 + Missense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 9 138830109 138830109 G A SNP UBAC1 ENST00000371756 human ensembl 74_37 -1 known missense c.1061 p.P354L 0.999 smart_STI1_HS-bd 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 tier1 - - 59 0 0.00 71 10 12.35 UBR4 0 genome.wustl.edu 37 1 19505602 19505602 + Missense_Mutation SNP T T C TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 1 19505602 19505602 T C SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.2297 p.H766R 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 tier1 - - 36 0 0.00 31 4 11.43 ULK1 0 genome.wustl.edu 37 12 132402064 132402064 + Missense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 12 132402064 132402064 C T SNP ULK1 ENST00000321867 human ensembl 74_37 +1 known missense c.2291 p.T764M 0.999 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 tier1 - - 99 0 0.00 56 5 8.20 UNC13B 0 genome.wustl.edu 37 9 35398267 35398267 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 9 35398267 35398267 G T SNP UNC13B ENST00000378496 human ensembl 74_37 +1 known missense c.3567 p.E1189D 0.997 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 tier1 - - 85 0 0.00 34 4 10.53 USP18 0 genome.wustl.edu 37 22 18650040 18650040 + Missense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 22 18650040 18650040 C T SNP USP18 ENST00000215794 human ensembl 74_37 +1 known missense c.419 p.A140V 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP18 HGNC ENSG00000184979 tier1 - - 65 0 0.00 51 4 7.27 VCP 0 genome.wustl.edu 37 9 35059646 35059647 + Frame_Shift_Ins INS - - T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 9 35059646 35059647 - T INS VCP ENST00000358901 human ensembl 74_37 -1 known frame_shift_ins c.1848_1847 p.N616fs 1.000:1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48 pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48 - no_errors VCP HGNC ENSG00000165280 tier1 54 0 0.00 56 6 9.68 VPS13A 0 genome.wustl.edu 37 9 79973297 79973297 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 9 79973297 79973297 G T SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.7978 p.V2660L 0.960 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 tier1 - - 105 0 0.00 70 4 5.41 VWA8 0 genome.wustl.edu 37 13 42263545 42263545 + Missense_Mutation SNP A A T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 13 42263545 42263545 A T SNP VWA8 ENST00000379310 human ensembl 74_37 -1 known missense c.4076 p.I1359N 1.000 NULL pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 tier1 - - 55 0 0.00 31 15 32.61 WASF1 0 genome.wustl.edu 37 6 110429852 110429852 + Missense_Mutation SNP A A C TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 6 110429852 110429852 A C SNP WASF1 ENST00000359451 human ensembl 74_37 -1 known missense c.301 p.F101V 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF1 HGNC ENSG00000112290 tier1 - - 58 0 0.00 38 10 20.83 WDR7 0 genome.wustl.edu 37 18 54349962 54349962 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 18 54349962 54349962 G T SNP WDR7 ENST00000254442 human ensembl 74_37 +1 known missense c.398 p.G133V 1.000 superfamily_Quinonprotein_ADH-like_supfam pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 tier1 - - 95 0 0.00 36 4 10.00 WFS1 0 genome.wustl.edu 37 4 6293076 6293076 + Missense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 4 6293076 6293076 G A SNP WFS1 ENST00000226760 human ensembl 74_37 +1 known missense c.613 p.G205S 0.879 NULL NULL - no_errors WFS1 HGNC ENSG00000109501 tier1 - - 20 0 0.00 10 5 33.33 XAB2 0 genome.wustl.edu 37 19 7685508 7685508 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 19 7685508 7685508 G T SNP XAB2 ENST00000358368 human ensembl 74_37 -1 known missense c.2019 p.D673E 0.998 NULL smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 tier1 - - 47 0 0.00 37 4 9.76 ZBTB1 0 genome.wustl.edu 37 14 64989787 64989787 + Frame_Shift_Del DEL A A - TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 14 64989787 64989787 A - DEL ZBTB1 ENST00000394712 human ensembl 74_37 +1 known frame_shift_del c.1565 p.K524fs 0.222 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB1 HGNC ENSG00000126804 tier1 39 0 0.00 35 2 5.41 ZC3HAV1 0 genome.wustl.edu 37 7 138763911 138763911 + Missense_Mutation SNP G G C TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 7 138763911 138763911 G C SNP ZC3HAV1 ENST00000464606 human ensembl 74_37 -1 novel missense c.1776 p.C592W 0.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors ZC3HAV1 HGNC ENSG00000105939 tier1 - - 71 0 0.00 53 4 7.02 ZCCHC5 0 genome.wustl.edu 37 X 77912710 77912710 + Missense_Mutation SNP T T G TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b X 77912710 77912710 T G SNP ZCCHC5 ENST00000321110 human ensembl 74_37 -1 known missense c.1208 p.K403T 0.000 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC5 HGNC ENSG00000179300 tier1 - - 33 0 0.00 16 20 55.56 ZFHX4 0 genome.wustl.edu 37 8 77618065 77618065 + Missense_Mutation SNP A A G TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 8 77618065 77618065 A G SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.1742 p.D581G 1.000 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 tier1 - - 34 0 0.00 23 11 32.35 ZFPM2 0 genome.wustl.edu 37 8 106813368 106813368 + Missense_Mutation SNP A A T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 8 106813368 106813368 A T SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known missense c.1058 p.H353L 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 tier1 - - 63 0 0.00 96 8 7.69 ZKSCAN2 0 genome.wustl.edu 37 16 25258515 25258515 + Silent SNP T T C TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 16 25258515 25258515 T C SNP ZKSCAN2 ENST00000328086 human ensembl 74_37 -1 known silent c.1002 p.E334 1.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,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 ZKSCAN2 HGNC ENSG00000155592 tier1 - - 50 0 0.00 36 4 10.00 ZNF223 0 genome.wustl.edu 37 19 44570564 44570564 + Missense_Mutation SNP C C A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 19 44570564 44570564 C A SNP ZNF223 ENST00000591793 human ensembl 74_37 +1 known missense c.913 p.Q305K 0.974 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF223 Uniprot_gn ENSG00000267022 tier1 - - 116 0 0.00 45 47 51.09 ZNF236 0 genome.wustl.edu 37 18 74607162 74607162 + Silent SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 18 74607162 74607162 C T SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known silent c.1605 p.I535 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 33 0 0.00 60 8 11.76 ZNF420 0 genome.wustl.edu 37 19 37621029 37621029 + Missense_Mutation SNP C C T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 19 37621029 37621029 C T SNP ZNF420 ENST00000304239 human ensembl 74_37 +1 putative missense c.1502 p.T501I 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 ZNF420 HGNC ENSG00000197050 tier1 - - 83 0 0.00 67 6 8.22 ZNF43 0 genome.wustl.edu 37 19 21992508 21992508 + Missense_Mutation SNP T T G TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 19 21992508 21992508 T G SNP ZNF43 ENST00000354959 human ensembl 74_37 -1 known missense c.331 p.N111H 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 ZNF43 HGNC ENSG00000198521 tier1 - - 97 0 0.00 28 32 53.33 ZNF681 0 genome.wustl.edu 37 19 23927993 23927993 + Missense_Mutation SNP C C A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 19 23927993 23927993 C A SNP ZNF681 ENST00000402377 human ensembl 74_37 -1 known missense c.359 p.C120F 0.029 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 ZNF681 HGNC ENSG00000196172 tier1 - - 87 0 0.00 48 19 28.36 ZNF790 0 genome.wustl.edu 37 19 37314262 37314262 + Nonsense_Mutation SNP C C A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 19 37314262 37314262 C A SNP ZNF790 ENST00000356725 human ensembl 74_37 -1 known nonsense c.154 p.E52* 0.401 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 ZNF790 HGNC ENSG00000197863 tier1 - - 36 0 0.00 33 9 21.43 ZNF83 0 genome.wustl.edu 37 19 53116987 53116987 + Silent SNP T T A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 19 53116987 53116987 T A SNP ZNF83 ENST00000301096 human ensembl 74_37 -1 known silent c.831 p.A277 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF83 HGNC ENSG00000167766 tier1 - - 58 0 0.00 18 4 18.18 ZNF850 0 genome.wustl.edu 37 19 37239924 37239924 + Missense_Mutation SNP T T A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 19 37239924 37239924 T A SNP ZNF850 ENST00000591344 human ensembl 74_37 -1 known missense c.2018 p.Y673F 0.039 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 ZNF850 HGNC ENSG00000267041 111 0 0.00 71 4 5.33 ZNFX1 0 genome.wustl.edu 37 20 47864088 47864088 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a34b9ac2-6aea-403b-95a2-b8553832709f 4a408ed5-0855-434c-bb0e-55cd9b0f338b 20 47864088 47864088 G T SNP ZNFX1 ENST00000371752 human ensembl 74_37 -1 known missense c.5473 p.L1825M 1.000 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 tier1 - - 43 0 0.00 37 4 9.76