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 COL11A1 0 genome.wustl.edu 37 1 103387081 103387081 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 1 103387081 103387081 C T SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.3737 p.G1246E 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 154 0 0 125 24 16.1074 DRAM2 0 genome.wustl.edu 37 1 111660643 111660643 + RNA SNP C C G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 1 111660643 111660643 C G SNP DRAM2 ENST00000484310 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors DRAM2 HGNC ENSG00000156171 28 0 0 17 5 22.7273 NOTCH2 0 genome.wustl.edu 37 1 120529603 120529603 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 1 120529603 120529603 C T SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known missense c.854 p.R285H 1.000 pirsf_Notch,pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 138 0 0 83 14 14.433 SCNN1D 0 genome.wustl.edu 37 1 1222237 1222237 + Missense_Mutation SNP G G T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 1 1222237 1222237 G T SNP SCNN1D ENST00000379116 human ensembl 74_37 +1 known missense c.1001 p.G334V 0.000 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1D HGNC ENSG00000162572 65 0 0 40 19 32.2034 FLG 0 genome.wustl.edu 37 1 152275879 152275879 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 1 152275879 152275879 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.11483 p.S3828L 0.001 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 503 2 0.39604 334 188 36.0153 ADAR 0 genome.wustl.edu 37 1 154570392 154570392 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 1 154570392 154570392 C T SNP ADAR ENST00000292205 human ensembl 74_37 -1 known missense c.1975 p.V659I 0.784 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_dsRNA-bd_dom,smart_dsRNA_A_deaminase,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC ENSG00000160710 101 0 0 55 34 38.2022 DDR2 0 genome.wustl.edu 37 1 162740230 162740230 + Missense_Mutation SNP C C G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 1 162740230 162740230 C G SNP DDR2 ENST00000367921 human ensembl 74_37 +1 known missense c.1432 p.R478G 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC ENSG00000162733 187 0 0 131 35 21.0843 CROCC 0 genome.wustl.edu 37 1 17257039 17257039 + Missense_Mutation SNP T T A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 1 17257039 17257039 T A SNP CROCC ENST00000375541 human ensembl 74_37 +1 known missense c.799 p.C267S 0.940 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 40 0 0 38 3 7.31707 MARC1 0 genome.wustl.edu 37 1 220971337 220971337 + Missense_Mutation SNP G G T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 1 220971337 220971337 G T SNP MARC1 ENST00000366910 human ensembl 74_37 +1 known missense c.734 p.G245V 0.749 pfam_MoCF_Sase_C,superfamily_Pyrv_Knase-like_insert_dom pfam_MOSC_N,pfam_MoCF_Sase_C,superfamily_Pyrv_Knase-like_insert_dom - no_errors MARC1 HGNC ENSG00000186205 360 1 0.277008 323 17 5 DMBX1 0 genome.wustl.edu 37 1 46972811 46972811 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 1 46972811 46972811 G A SNP DMBX1 ENST00000371956 human ensembl 74_37 +1 known silent c.129 p.A43 0.005 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors DMBX1 HGNC ENSG00000197587 45 0 0 47 10 17.5439 BEND5 0 genome.wustl.edu 37 1 49193689 49193689 + Missense_Mutation SNP C C G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 1 49193689 49193689 C G SNP BEND5 ENST00000371833 human ensembl 74_37 -1 known missense c.1135 p.E379Q 1.000 pfam_BEN_domain pfam_BEN_domain - no_errors BEND5 HGNC ENSG00000162373 145 0 0 101 15 12.931 BEND5 0 genome.wustl.edu 37 1 49208340 49208340 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 1 49208340 49208340 G A SNP BEND5 ENST00000371833 human ensembl 74_37 -1 known silent c.849 p.P283 0.826 NULL pfam_BEN_domain - no_errors BEND5 HGNC ENSG00000162373 213 0 0 218 48 18.0451 BARHL2 0 genome.wustl.edu 37 1 91178119 91178119 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 1 91178119 91178119 G A SNP BARHL2 ENST00000370445 human ensembl 74_37 -1 known missense c.914 p.S305L 0.999 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors BARHL2 HGNC ENSG00000143032 32 0 0 28 12 30 CDC7 0 genome.wustl.edu 37 1 91977205 91977205 + Silent SNP T T C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 1 91977205 91977205 T C SNP CDC7 ENST00000234626 human ensembl 74_37 +1 known silent c.387 p.H129 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDC7 HGNC ENSG00000097046 312 0 0 213 60 21.978 GFI1 0 genome.wustl.edu 37 1 92941605 92941605 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 1 92941605 92941605 G A SNP GFI1 ENST00000294702 human ensembl 74_37 -1 known missense c.1250 p.T417M 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GFI1 HGNC ENSG00000162676 47 0 0 18 18 50 LDB1 0 genome.wustl.edu 37 10 103869244 103869244 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 10 103869244 103869244 G A SNP LDB1 ENST00000425280 human ensembl 74_37 -1 known silent c.753 p.P251 1.000 NULL NULL - no_errors LDB1 HGNC ENSG00000198728 77 0 0 42 13 23.6364 SLC39A12 0 genome.wustl.edu 37 10 18250745 18250745 + Missense_Mutation SNP A A G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 10 18250745 18250745 A G SNP SLC39A12 ENST00000377369 human ensembl 74_37 +1 known missense c.497 p.D166G 0.994 NULL pfam_ZIP - no_errors SLC39A12 HGNC ENSG00000148482 186 0 0 99 58 36.9427 ZEB1 0 genome.wustl.edu 37 10 31812911 31812911 + Missense_Mutation SNP G G C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 10 31812911 31812911 G C SNP ZEB1 ENST00000361642 human ensembl 74_37 +1 known missense c.2655 p.Q885H 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 172 0 0 156 9 5.45455 PRKG1 0 genome.wustl.edu 37 10 53893600 53893600 + Missense_Mutation SNP G G T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 10 53893600 53893600 G T SNP PRKG1 ENST00000373975 human ensembl 74_37 +1 putative missense c.45 p.R15S 1.000 superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKG1 HGNC ENSG00000185532 127 0 0 53 32 37.6471 PCDH15 0 genome.wustl.edu 37 10 55663110 55663110 + Missense_Mutation SNP T T C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 10 55663110 55663110 T C SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.3394 p.I1132V 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 149 0 0 114 19 14.2857 BICC1 0 genome.wustl.edu 37 10 60556153 60556153 + Missense_Mutation SNP G G T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 10 60556153 60556153 G T SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known missense c.1233 p.R411S 1.000 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 154 1 0.645161 121 19 13.5714 HERC4 0 genome.wustl.edu 37 10 69700775 69700775 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 10 69700775 69700775 G A SNP HERC4 ENST00000395198 human ensembl 74_37 -1 known missense c.2449 p.P817S 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC4 HGNC ENSG00000148634 246 0 0 180 24 11.7647 C11orf87 0 genome.wustl.edu 37 11 109294891 109294891 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 11 109294891 109294891 G A SNP C11orf87 ENST00000327419 human ensembl 74_37 +1 known missense c.532 p.A178T 0.447 NULL superfamily_MFS_dom_general_subst_transpt - no_errors C11orf87 HGNC ENSG00000185742 90 0 0 54 28 34.1463 CLDN25 0 genome.wustl.edu 37 11 113650534 113650534 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 11 113650534 113650534 G A SNP CLDN25 ENST00000453129 human ensembl 74_37 +1 known missense c.17 p.R6H 0.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN25 HGNC ENSG00000228607 152 0 0 111 23 17.1642 OR6M1 0 genome.wustl.edu 37 11 123676413 123676413 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 11 123676413 123676413 G A SNP OR6M1 ENST00000309154 human ensembl 74_37 -1 known silent c.645 p.Y215 0.021 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6M1 HGNC ENSG00000196099 89 0 0 86 12 12.2449 ABCC8 0 genome.wustl.edu 37 11 17450207 17450207 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 11 17450207 17450207 G A SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known silent c.1828 p.L610 1.000 superfamily_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 76 0 0 47 27 36.4865 ABCC8 0 genome.wustl.edu 37 11 17482049 17482049 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 11 17482049 17482049 C T SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known missense c.997 p.V333I 0.149 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 197 1 0.505051 147 28 16 DBX1 0 genome.wustl.edu 37 11 20180794 20180794 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 11 20180794 20180794 C T SNP DBX1 ENST00000227256 human ensembl 74_37 -1 known missense c.412 p.A138T 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors DBX1 HGNC ENSG00000109851 107 0 0 88 16 15.3846 ANO3 0 genome.wustl.edu 37 11 26538454 26538454 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 11 26538454 26538454 G A SNP ANO3 ENST00000256737 human ensembl 74_37 +1 known silent c.672 p.L224 1.000 NULL pfam_Anoctamin - no_errors ANO3 HGNC ENSG00000134343 105 0 0 44 34 43.5897 AGBL2 0 genome.wustl.edu 37 11 47681771 47681771 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 11 47681771 47681771 G A SNP AGBL2 ENST00000357610 human ensembl 74_37 -1 known missense c.2669 p.A890V 0.000 NULL pfam_Peptidase_M14 - no_errors AGBL2 HGNC ENSG00000165923 152 1 0.653595 136 37 21.3873 PTPRJ 0 genome.wustl.edu 37 11 48177607 48177607 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 11 48177607 48177607 G A SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known missense c.3374 p.R1125H 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 298 1 0.334448 274 15 5.19031 OR4C15 0 genome.wustl.edu 37 11 55322894 55322894 + Nonstop_Mutation SNP A A T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 11 55322894 55322894 A T SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known nonstop c.1112 p.*371L 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 67 0 0 56 9 13.8462 OR8J3 0 genome.wustl.edu 37 11 55904988 55904988 + Silent SNP G G T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 11 55904988 55904988 G T SNP OR8J3 ENST00000301529 human ensembl 74_37 -1 known silent c.207 p.I69 0.003 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 OR8J3 HGNC ENSG00000167822 278 0 0 140 75 34.8837 OR5T1 0 genome.wustl.edu 37 11 56043418 56043418 + Missense_Mutation SNP A A G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 11 56043418 56043418 A G SNP OR5T1 ENST00000313033 human ensembl 74_37 +1 known missense c.304 p.K102E 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T1 HGNC ENSG00000181698 322 0 0 198 124 38.5093 HNRNPUL2 0 genome.wustl.edu 37 11 62482774 62482774 + Silent SNP C C A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 11 62482774 62482774 C A SNP HNRNPUL2 ENST00000301785 human ensembl 74_37 -1 known silent c.2241 p.R747 1.000 NULL pfam_SPRY_rcpt,pfam_SAP_dom,pfam_Zeta_toxin_domain,pfam_Chromatin_KTI12,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPUL2 HGNC ENSG00000214753 120 0 0 126 7 5.26316 STX5 0 genome.wustl.edu 37 11 62575109 62575109 + Missense_Mutation SNP A A C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 11 62575109 62575109 A C SNP STX5 ENST00000377897 human ensembl 74_37 -1 known missense c.938 p.L313W 0.001 NULL pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,pfscan_T_SNARE_dom - no_errors STX5 HGNC ENSG00000162236 47 0 0 33 6 15.3846 DLG2 0 genome.wustl.edu 37 11 83182758 83182758 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 11 83182758 83182758 C T SNP DLG2 ENST00000376104 human ensembl 74_37 -1 known missense c.2357 p.R786Q 0.992 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_Guanylate_kin-like pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG2 HGNC ENSG00000150672 62 0 0 64 14 17.9487 ANKRD49 0 genome.wustl.edu 37 11 94231299 94231299 + Silent SNP T T C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 11 94231299 94231299 T C SNP ANKRD49 ENST00000302755 human ensembl 74_37 +1 known silent c.321 p.D107 0.669 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD49 HGNC ENSG00000168876 106 0 0 101 16 13.6752 GAS2L3 0 genome.wustl.edu 37 12 101017746 101017746 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 12 101017746 101017746 C T SNP GAS2L3 ENST00000266754 human ensembl 74_37 +1 known missense c.1163 p.S388L 0.026 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L3 HGNC ENSG00000139354 207 0 0 209 28 11.8143 TCHP 0 genome.wustl.edu 37 12 110345342 110345342 + Silent SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 12 110345342 110345342 C T SNP TCHP ENST00000312777 human ensembl 74_37 +1 known silent c.537 p.T179 0.000 NULL NULL - no_errors TCHP HGNC ENSG00000139437 184 1 0.540541 122 40 24.6914 TAS2R13 0 genome.wustl.edu 37 12 11060990 11060990 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 12 11060990 11060990 C T SNP TAS2R13 ENST00000390677 human ensembl 74_37 -1 known missense c.908 p.R303Q 0.002 NULL pfam_TAS2_rcpt - no_errors TAS2R13 HGNC ENSG00000212128 147 0 0 128 23 15.2318 EP400 0 genome.wustl.edu 37 12 132464291 132464291 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 12 132464291 132464291 C T SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.1496 p.T499M 0.010 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 40 0 0 28 12 30 KRAS 0 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 12 25398284 25398284 C T SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.35 p.G12D 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 68 0 0 42 19 31.1475 BICD1 0 genome.wustl.edu 37 12 32458680 32458680 + Missense_Mutation SNP C C A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 12 32458680 32458680 C A SNP BICD1 ENST00000281474 human ensembl 74_37 +1 known missense c.629 p.T210K 0.983 pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC_like_C_dom pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC_like_C_dom - no_errors BICD1 HGNC ENSG00000151746 59 0 0 68 18 20.9302 KRT84 0 genome.wustl.edu 37 12 52775182 52775182 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 12 52775182 52775182 C T SNP KRT84 ENST00000257951 human ensembl 74_37 -1 known missense c.1040 p.R347H 0.991 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT84 HGNC ENSG00000161849 278 0 0 211 113 34.8765 KRT2 0 genome.wustl.edu 37 12 53042031 53042031 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 12 53042031 53042031 C T SNP KRT2 ENST00000309680 human ensembl 74_37 -1 known missense c.1048 p.A350T 0.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT2 HGNC ENSG00000172867 221 0 0 171 75 30.4878 NPFF 0 genome.wustl.edu 37 12 53900562 53900562 + Nonstop_Mutation SNP A A T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 12 53900562 53900562 A T SNP NPFF ENST00000609999 human ensembl 74_37 -1 known nonstop c.349 p.*117R 0.994 NULL pirsf_FMRFamid-related_peptide,prints_FMRFamid-related_peptide - no_errors NPFF HGNC ENSG00000139574 164 0 0 146 62 29.8077 SLC16A7 0 genome.wustl.edu 37 12 60098669 60098669 + Silent SNP C C A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 12 60098669 60098669 C A SNP SLC16A7 ENST00000261187 human ensembl 74_37 +1 known silent c.87 p.S29 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A7 HGNC ENSG00000118596 112 0 0 119 10 7.75194 VWF 0 genome.wustl.edu 37 12 6103071 6103071 + Silent SNP C C A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 12 6103071 6103071 C A SNP VWF ENST00000261405 human ensembl 74_37 -1 known silent c.6555 p.R2185 0.094 pirsf_VWF,pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 97 0 0 88 34 27.8689 NAV3 0 genome.wustl.edu 37 12 78594292 78594292 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 12 78594292 78594292 G A SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.6755 p.G2252D 1.000 superfamily_P-loop_NTPase pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 206 0 0 178 32 15.2381 SLC2A3 0 genome.wustl.edu 37 12 8077053 8077053 + Missense_Mutation SNP C C A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 12 8077053 8077053 C A SNP SLC2A3 ENST00000075120 human ensembl 74_37 -1 known missense c.1021 p.G341W 1.000 pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A3 HGNC ENSG00000059804 180 0 0 165 32 16.2437 EDNRB 0 genome.wustl.edu 37 13 78492731 78492731 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 13 78492731 78492731 G A SNP EDNRB ENST00000377211 human ensembl 74_37 -1 putative missense c.248 p.T83M 0.051 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 31 0 0 15 5 25 SLITRK6 0 genome.wustl.edu 37 13 86369237 86369237 + Missense_Mutation SNP G G T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 13 86369237 86369237 G T SNP SLITRK6 ENST00000400286 human ensembl 74_37 -1 known missense c.1407 p.N469K 0.975 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 263 0 0 132 76 36.5385 SLITRK5 0 genome.wustl.edu 37 13 88328906 88328906 + Silent SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 13 88328906 88328906 C T SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known silent c.1263 p.I421 0.993 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 72 0 0 56 10 15.1515 MIR412 0 genome.wustl.edu 37 14 101531868 101531868 + RNA SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 14 101531868 101531868 G A SNP MIR412 ENST00000362142 human ensembl 74_37 +1 known rna NULL NULL 0.900 - - - no_errors MIR412 HGNC ENSG00000199012 135 0 0 112 29 20.5674 TECPR2 0 genome.wustl.edu 37 14 102918810 102918810 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 14 102918810 102918810 G A SNP TECPR2 ENST00000359520 human ensembl 74_37 +1 known silent c.3486 p.T1162 0.000 superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_RCC1/BLIP-II,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC ENSG00000196663 31 0 0 11 8 42.1053 AHNAK2 0 genome.wustl.edu 37 14 105415602 105415602 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 14 105415602 105415602 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.6186 p.P2062 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 161 0 0 75 61 44.8529 ADCK1 0 genome.wustl.edu 37 14 78374153 78374153 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 14 78374153 78374153 G A SNP ADCK1 ENST00000238561 human ensembl 74_37 +1 known missense c.749 p.R250Q 0.000 pfam_UbiB_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom pfam_UbiB_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom - no_errors ADCK1 HGNC ENSG00000063761 46 0 0 39 9 18.75 SERPINA3 0 genome.wustl.edu 37 14 95088714 95088714 + Silent SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 14 95088714 95088714 C T SNP SERPINA3 ENST00000393078 human ensembl 74_37 +1 known silent c.954 p.I318 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA3 HGNC ENSG00000196136 172 0 0 106 51 32.4841 CHSY1 0 genome.wustl.edu 37 15 101717818 101717818 + Silent SNP G G T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 15 101717818 101717818 G T SNP CHSY1 ENST00000254190 human ensembl 74_37 -1 known silent c.2184 p.V728 0.653 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY1 HGNC ENSG00000131873 162 0 0 144 74 33.945 NOX5 0 genome.wustl.edu 37 15 69339812 69339812 + Silent SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 15 69339812 69339812 C T SNP NOX5 ENST00000388866 human ensembl 74_37 +1 known silent c.1752 p.A584 0.555 pfam_Fe_red_NAD-bd_6 pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NOX5 HGNC ENSG00000255346 118 0 0 72 41 36.2832 C15orf26 0 genome.wustl.edu 37 15 81440853 81440853 + Silent SNP C C A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 15 81440853 81440853 C A SNP C15orf26 ENST00000286732 human ensembl 74_37 +1 known silent c.885 p.A295 0.001 NULL NULL - no_errors C15orf26 HGNC ENSG00000156206 189 0 0 121 52 30.0578 ST8SIA2 0 genome.wustl.edu 37 15 92988117 92988117 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 15 92988117 92988117 G A SNP ST8SIA2 ENST00000268164 human ensembl 74_37 +1 known missense c.800 p.R267H 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA2 HGNC ENSG00000140557 174 0 0 125 76 37.8109 ABCA3 0 genome.wustl.edu 37 16 2329025 2329025 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 16 2329025 2329025 C T SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known missense c.4466 p.R1489H 0.998 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 ABCA3 HGNC ENSG00000167972 101 0 0 56 41 42.268 VASN 0 genome.wustl.edu 37 16 4431585 4431585 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 16 4431585 4431585 G A SNP VASN ENST00000304735 human ensembl 74_37 +1 known missense c.707 p.R236Q 0.609 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors VASN HGNC ENSG00000168140 13 0 0 8 4 33.3333 CES5A 0 genome.wustl.edu 37 16 55883653 55883653 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 16 55883653 55883653 G A SNP CES5A ENST00000521992 human ensembl 74_37 -1 known missense c.1393 p.R465W 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES5A HGNC ENSG00000159398 129 0 0 103 22 17.6 TERF2 0 genome.wustl.edu 37 16 69404367 69404367 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 16 69404367 69404367 G A SNP TERF2 ENST00000567296 human ensembl 74_37 -1 known missense c.859 p.P287S 0.001 superfamily_Telomere_rpt-bd_fac_dimer_dom pfam_Telomere_rpt-bd_fac_dimer_dom,superfamily_Telomere_rpt-bd_fac_dimer_dom - no_errors TERF2 HGNC ENSG00000132604 95 0 0 83 15 15.3061 TERF2 0 genome.wustl.edu 37 16 69404369 69404369 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 16 69404369 69404369 G A SNP TERF2 ENST00000567296 human ensembl 74_37 -1 known missense c.857 p.S286F 0.000 superfamily_Telomere_rpt-bd_fac_dimer_dom pfam_Telomere_rpt-bd_fac_dimer_dom,superfamily_Telomere_rpt-bd_fac_dimer_dom - no_errors TERF2 HGNC ENSG00000132604 96 0 0 83 15 15.3061 SPG7 0 genome.wustl.edu 37 16 89623299 89623299 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 16 89623299 89623299 C T SNP SPG7 ENST00000268704 human ensembl 74_37 +1 known missense c.2186 p.A729V 1.000 pfam_Peptidase_M41,tigrfam_FtsH pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors SPG7 HGNC ENSG00000197912 209 1 0.47619 175 12 6.41711 SLC43A2 0 genome.wustl.edu 37 17 1478995 1478995 + Missense_Mutation SNP T T C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 17 1478995 1478995 T C SNP SLC43A2 ENST00000382147 human ensembl 74_37 -1 known missense c.1625 p.Y542C 1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A2 HGNC ENSG00000167703 44 0 0 20 9 31.0345 CWC25 0 genome.wustl.edu 37 17 36971114 36971114 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 17 36971114 36971114 C T SNP CWC25 ENST00000225428 human ensembl 74_37 -1 known missense c.428 p.R143K 1.000 pfam_CWC25 pfam_CWC25,pfam_CIR_N_dom - no_errors CWC25 HGNC ENSG00000108296 38 0 0 28 9 24.3243 PLEKHH3 0 genome.wustl.edu 37 17 40820258 40820258 + Missense_Mutation SNP T T A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 17 40820258 40820258 T A SNP PLEKHH3 ENST00000591022 human ensembl 74_37 -1 known missense c.2269 p.S757C 0.998 NULL pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH3 HGNC ENSG00000068137 23 0 0 17 5 22.7273 SEPT4 0 genome.wustl.edu 37 17 56598621 56598621 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 17 56598621 56598621 C T SNP SEPT4 ENST00000457347 human ensembl 74_37 -1 known missense c.1153 p.V385M 1.000 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase - no_errors SEPT4 HGNC ENSG00000108387 108 0 0 87 15 14.7059 BCAS3 0 genome.wustl.edu 37 17 59093117 59093117 + Missense_Mutation SNP C C G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 17 59093117 59093117 C G SNP BCAS3 ENST00000390652 human ensembl 74_37 +1 known missense c.1492 p.L498V 1.000 NULL pfam_BCAS3,pfam_WD40_repeat - no_errors BCAS3 HGNC ENSG00000141376 353 0 0 255 59 18.7898 CSH2 0 genome.wustl.edu 37 17 61949672 61949672 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 17 61949672 61949672 G A SNP CSH2 ENST00000392886 human ensembl 74_37 -1 known silent c.468 p.D156 0.775 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors CSH2 HGNC ENSG00000213218 163 1 0.609756 146 28 16.092 KIF19 0 genome.wustl.edu 37 17 72350375 72350375 + Missense_Mutation SNP A A C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 17 72350375 72350375 A C SNP KIF19 ENST00000389916 human ensembl 74_37 +1 known missense c.2383 p.T795P 0.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF19 HGNC ENSG00000196169 44 0 0 32 13 28.8889 TP53 0 genome.wustl.edu 37 17 7577130 7577130 + Missense_Mutation SNP A A G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 17 7577130 7577130 A G SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.808 p.F270L 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 49 0 0 25 20 44.4444 SS18 0 genome.wustl.edu 37 18 23615079 23615079 + Missense_Mutation SNP T T G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 18 23615079 23615079 T G SNP SS18 ENST00000415083 human ensembl 74_37 -1 known missense c.986 p.Y329S 1.000 NULL pfam_SS18_fam - no_errors SS18 HGNC ENSG00000141380 163 0 0 171 34 16.5854 NARS 0 genome.wustl.edu 37 18 55268941 55268941 + Missense_Mutation SNP C C A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 18 55268941 55268941 C A SNP NARS ENST00000256854 human ensembl 74_37 -1 known missense c.1590 p.R530S 0.998 pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Asn-tRNA-ligase pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-ligase - no_errors NARS HGNC ENSG00000134440 217 1 0.458716 193 45 18.9076 C19orf26 0 genome.wustl.edu 37 19 1235849 1235849 + Silent SNP G G T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 19 1235849 1235849 G T SNP C19orf26 ENST00000382477 human ensembl 74_37 -1 known silent c.156 p.G52 0.990 NULL NULL - no_errors C19orf26 HGNC ENSG00000099625 108 0 0 64 38 37.2549 OR10H5 0 genome.wustl.edu 37 19 15905399 15905399 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 19 15905399 15905399 G A SNP OR10H5 ENST00000308940 human ensembl 74_37 +1 known missense c.541 p.V181M 0.001 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 OR10H5 HGNC ENSG00000172519 140 0 0 108 20 15.625 TCF3 0 genome.wustl.edu 37 19 1612362 1612362 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 19 1612362 1612362 C T SNP TCF3 ENST00000344749 human ensembl 74_37 -1 known missense c.1657 p.A553T 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF3 HGNC ENSG00000071564 102 0 0 86 17 16.5049 UNC13A 0 genome.wustl.edu 37 19 17737485 17737485 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 19 17737485 17737485 C T SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known missense c.4294 p.A1432T 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,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 UNC13A HGNC ENSG00000130477 13 0 0 4 5 55.5556 SUGP1 0 genome.wustl.edu 37 19 19414582 19414582 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 19 19414582 19414582 C T SNP SUGP1 ENST00000247001 human ensembl 74_37 -1 known missense c.613 p.E205K 1.000 pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP1 HGNC ENSG00000105705 400 1 0.249377 337 65 16.1692 TSHZ3 0 genome.wustl.edu 37 19 31769042 31769042 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 19 31769042 31769042 C T SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known missense c.1657 p.A553T 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 250 0 0 189 41 17.8261 DPY19L3 0 genome.wustl.edu 37 19 32930709 32930709 + Missense_Mutation SNP T T A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 19 32930709 32930709 T A SNP DPY19L3 ENST00000342179 human ensembl 74_37 +1 known missense c.748 p.S250T 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L3 HGNC ENSG00000178904 184 0 0 142 11 7.18954 SIPA1L3 0 genome.wustl.edu 37 19 38573359 38573359 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 19 38573359 38573359 C T SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known missense c.1154 p.T385M 0.032 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 39 0 0 24 11 31.4286 RYR1 0 genome.wustl.edu 37 19 38976356 38976356 + Silent SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 19 38976356 38976356 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known silent c.5061 p.H1687 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 120 0 0 75 29 27.8846 ERF 0 genome.wustl.edu 37 19 42753352 42753352 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 19 42753352 42753352 G A SNP ERF ENST00000222329 human ensembl 74_37 -1 known silent c.912 p.S304 1.000 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ERF HGNC ENSG00000105722 30 0 0 27 5 15.625 PSG5 0 genome.wustl.edu 37 19 43683290 43683290 + Silent SNP G G T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 19 43683290 43683290 G T SNP PSG5 ENST00000599812 human ensembl 74_37 -1 novel silent c.450 p.S150 0.000 pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG5 HGNC ENSG00000204941 325 0 0 232 56 19.4444 PSG5 0 genome.wustl.edu 37 19 43683291 43683291 + Missense_Mutation SNP G G T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 19 43683291 43683291 G T SNP PSG5 ENST00000599812 human ensembl 74_37 -1 novel missense c.449 p.S150Y 0.000 pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG5 HGNC ENSG00000204941 324 1 0.307692 234 54 18.75 PPP2R1A 0 genome.wustl.edu 37 19 52714526 52714526 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 19 52714526 52714526 C T SNP PPP2R1A ENST00000322088 human ensembl 74_37 +1 known missense c.284 p.S95L 1.000 superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1A HGNC ENSG00000105568 37 0 0 31 17 35.4167 ZNF578 0 genome.wustl.edu 37 19 53014551 53014551 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 19 53014551 53014551 G A SNP ZNF578 ENST00000421239 human ensembl 74_37 +1 known missense c.917 p.R306H 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF578 HGNC ENSG00000258405 212 0 0 166 28 14.433 ZNF331 0 genome.wustl.edu 37 19 54080995 54080995 + Missense_Mutation SNP A A G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 19 54080995 54080995 A G SNP ZNF331 ENST00000253144 human ensembl 74_37 +1 known missense c.1181 p.Y394C 0.003 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 ZNF331 HGNC ENSG00000130844 73 0 0 59 17 22.3684 KIR2DL4 0 genome.wustl.edu 37 19 55316320 55316320 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 19 55316320 55316320 G A SNP KIR2DL4 ENST00000396284 human ensembl 74_37 +1 known missense c.143 p.R48Q 0.000 pfam_Immunoglobulin,smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL4 HGNC ENSG00000189013 79 0 0 40 33 45.2055 ZNF71 0 genome.wustl.edu 37 19 57133750 57133750 + Missense_Mutation SNP G G C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 19 57133750 57133750 G C SNP ZNF71 ENST00000328070 human ensembl 74_37 +1 known missense c.1095 p.K365N 0.734 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 73 0 0 64 19 22.8916 ZNF264 0 genome.wustl.edu 37 19 57705342 57705342 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 19 57705342 57705342 G A SNP ZNF264 ENST00000263095 human ensembl 74_37 +1 known missense c.133 p.E45K 0.998 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF264 HGNC ENSG00000083844 175 0 0 120 30 20 C3 0 genome.wustl.edu 37 19 6680225 6680225 + Missense_Mutation SNP A A T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 19 6680225 6680225 A T SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.4400 p.F1467Y 0.793 pfam_A-macroglobulin_rcpt-bd,superfamily_A-macroglobulin_rcpt-bd pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 135 0 0 104 23 18.1102 C3 0 genome.wustl.edu 37 19 6711199 6711199 + Silent SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 19 6711199 6711199 C T SNP C3 ENST00000245907 human ensembl 74_37 -1 known silent c.1278 p.T426 0.000 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 68 0 0 70 17 19.5402 ZEB2 0 genome.wustl.edu 37 2 145157076 145157076 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 2 145157076 145157076 G A SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known missense c.1678 p.R560C 0.999 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 250 0 0 211 30 12.4481 SCN2A 0 genome.wustl.edu 37 2 166187901 166187901 + Missense_Mutation SNP G G C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 2 166187901 166187901 G C SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.2211 p.L737F 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 237 0 0 128 80 38.4615 SCN2A 0 genome.wustl.edu 37 2 166221688 166221688 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 2 166221688 166221688 G A SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known silent c.3435 p.T1145 0.941 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 120 0 0 96 20 17.2414 TTN 0 genome.wustl.edu 37 2 179581831 179581831 + Missense_Mutation SNP C C G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 2 179581831 179581831 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.21898 p.G7300R 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 88 0 0 66 13 16.4557 DNAH7 0 genome.wustl.edu 37 2 196877523 196877523 + Missense_Mutation SNP G G C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 2 196877523 196877523 G C SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.977 p.T326S 1.000 NULL 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 165 0 0 142 31 17.9191 ALS2 0 genome.wustl.edu 37 2 202626541 202626541 + Missense_Mutation SNP T T C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 2 202626541 202626541 T C SNP ALS2 ENST00000264276 human ensembl 74_37 -1 known missense c.176 p.D59G 1.000 superfamily_RCC1/BLIP-II pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_RCC1/BLIP-II,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens - no_errors ALS2 HGNC ENSG00000003393 146 0 0 89 47 34.5588 PROKR1 0 genome.wustl.edu 37 2 68882420 68882420 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 2 68882420 68882420 G A SNP PROKR1 ENST00000303786 human ensembl 74_37 +1 known silent c.894 p.A298 0.928 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR1 HGNC ENSG00000169618 78 0 0 86 6 6.52174 ANXA4 0 genome.wustl.edu 37 2 70015260 70015260 + Silent SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 2 70015260 70015260 C T SNP ANXA4 ENST00000394295 human ensembl 74_37 +1 known silent c.84 p.A28 1.000 pfam_Annexin_repeat pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIV,prints_AnnexinV - no_errors ANXA4 HGNC ENSG00000196975 87 0 0 67 28 29.4737 DYSF 0 genome.wustl.edu 37 2 71780317 71780317 + Silent SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 2 71780317 71780317 C T SNP DYSF ENST00000413539 human ensembl 74_37 +1 known silent c.2022 p.D674 0.923 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 116 1 0.854701 83 25 23.1481 DYSF 0 genome.wustl.edu 37 2 71825803 71825803 + Silent SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 2 71825803 71825803 C T SNP DYSF ENST00000413539 human ensembl 74_37 +1 known silent c.3723 p.I1241 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 78 0 0 61 31 33.6957 TSGA10 0 genome.wustl.edu 37 2 99636757 99636757 + Silent SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 2 99636757 99636757 C T SNP TSGA10 ENST00000355053 human ensembl 74_37 -1 known silent c.1803 p.L601 1.000 NULL NULL - no_errors TSGA10 HGNC ENSG00000135951 119 0 0 108 41 27.5168 SPTLC3 0 genome.wustl.edu 37 20 13098334 13098334 + Missense_Mutation SNP A A C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 20 13098334 13098334 A C SNP SPTLC3 ENST00000399002 human ensembl 74_37 +1 known missense c.1114 p.S372R 1.000 pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors SPTLC3 HGNC ENSG00000172296 190 0 0 289 54 15.7434 CST2 0 genome.wustl.edu 37 20 23807102 23807102 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 20 23807102 23807102 G A SNP CST2 ENST00000304725 human ensembl 74_37 -1 known missense c.196 p.R66C 0.008 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST2 HGNC ENSG00000170369 52 0 0 66 25 27.4725 DYNLRB1 0 genome.wustl.edu 37 20 33122521 33122521 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 20 33122521 33122521 G A SNP DYNLRB1 ENST00000417166 human ensembl 74_37 +1 known missense c.169 p.V57M 0.994 pfam_Dynein_light-rel,smart_Dynein_light-rel pfam_Dynein_light-rel,smart_Dynein_light-rel - no_errors DYNLRB1 HGNC ENSG00000125971 89 0 0 147 26 15.0289 PTPRT 0 genome.wustl.edu 37 20 41100955 41100955 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 20 41100955 41100955 G A SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known silent c.1401 p.P467 0.032 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 132 0 0 164 43 20.7729 SEMG1 0 genome.wustl.edu 37 20 43836661 43836661 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 20 43836661 43836661 G A SNP SEMG1 ENST00000372781 human ensembl 74_37 +1 known silent c.723 p.A241 0.000 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG1 HGNC ENSG00000124233 204 0 0 321 34 9.57746 RASSF2 0 genome.wustl.edu 37 20 4771170 4771170 + Missense_Mutation SNP A A G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 20 4771170 4771170 A G SNP RASSF2 ENST00000379376 human ensembl 74_37 -1 known missense c.464 p.V155A 0.973 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom - no_errors RASSF2 HGNC ENSG00000101265 49 0 0 80 26 24.5283 ZNF217 0 genome.wustl.edu 37 20 52192732 52192732 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 20 52192732 52192732 G A SNP ZNF217 ENST00000302342 human ensembl 74_37 -1 known silent c.2571 p.P857 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ENSG00000171940 200 1 0.497512 397 42 9.5672 TPTE 0 genome.wustl.edu 37 21 10941947 10941947 + Silent SNP T T C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 21 10941947 10941947 T C SNP TPTE ENST00000361285 human ensembl 74_37 -1 known silent c.756 p.P252 1.000 pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 609 1 0.163934 472 32 6.34921 KRTAP13-1 0 genome.wustl.edu 37 21 31768846 31768846 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 21 31768846 31768846 C T SNP KRTAP13-1 ENST00000355459 human ensembl 74_37 +1 known missense c.442 p.R148C 0.000 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP13-1 HGNC ENSG00000198390 39 0 0 34 8 19.0476 SON 0 genome.wustl.edu 37 21 34924449 34924449 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 21 34924449 34924449 G A SNP SON ENST00000356577 human ensembl 74_37 +1 known missense c.2912 p.R971K 1.000 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom - no_errors SON HGNC ENSG00000159140 330 0 0 238 54 18.4932 ZBTB21 0 genome.wustl.edu 37 21 43413582 43413582 + Missense_Mutation SNP C C A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 21 43413582 43413582 C A SNP ZBTB21 ENST00000310826 human ensembl 74_37 -1 known missense c.623 p.W208L 0.984 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 ZBTB21 HGNC ENSG00000173276 296 0 0 244 28 10.2941 PRMT2 0 genome.wustl.edu 37 21 48081793 48081793 + Nonsense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 21 48081793 48081793 C T SNP PRMT2 ENST00000355680 human ensembl 74_37 +1 known nonsense c.1042 p.Q348* 0.989 pfam_Arg_MeTrfase pfam_SH3_domain,pfam_Arg_MeTrfase,pfam_SH3_2,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_tRNA_Trfase_Trm5/Tyw2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors PRMT2 HGNC ENSG00000160310 16 0 0 9 6 40 PVALB 0 genome.wustl.edu 37 22 37209779 37209779 + Missense_Mutation SNP G G T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 22 37209779 37209779 G T SNP PVALB ENST00000216200 human ensembl 74_37 -1 known missense c.215 p.S72Y 0.078 pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors PVALB HGNC ENSG00000100362 255 0 0 210 51 19.5402 MYH15 0 genome.wustl.edu 37 3 108195277 108195277 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 3 108195277 108195277 G A SNP MYH15 ENST00000273353 human ensembl 74_37 -1 known silent c.1260 p.N420 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 91 0 0 74 24 24.4898 ZBBX 0 genome.wustl.edu 37 3 166960346 166960346 + Silent SNP T T G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 3 166960346 166960346 T G SNP ZBBX ENST00000307529 human ensembl 74_37 -1 known silent c.2340 p.T780 0.000 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 129 0 0 64 18 21.9512 EIF4A2 0 genome.wustl.edu 37 3 186504980 186504980 + Missense_Mutation SNP T T C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 3 186504980 186504980 T C SNP EIF4A2 ENST00000440191 human ensembl 74_37 +1 known missense c.839 p.F280S 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A2 HGNC ENSG00000156976 268 0 0 149 90 37.6569 CTNNB1 0 genome.wustl.edu 37 3 41266113 41266113 + Missense_Mutation SNP C C G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 3 41266113 41266113 C G SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known missense c.110 p.S37C 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 56 0 0 39 21 35 ALS2CL 0 genome.wustl.edu 37 3 46718164 46718164 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 3 46718164 46718164 C T SNP ALS2CL ENST00000318962 human ensembl 74_37 -1 known missense c.1996 p.E666K 0.790 NULL pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9 - no_errors ALS2CL HGNC ENSG00000178038 75 0 0 62 17 21.519 DHX30 0 genome.wustl.edu 37 3 47888357 47888357 + Missense_Mutation SNP T T A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 3 47888357 47888357 T A SNP DHX30 ENST00000445061 human ensembl 74_37 +1 known missense c.1795 p.F599I 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC ENSG00000132153 32 0 0 25 8 24.2424 MITF 0 genome.wustl.edu 37 3 69988303 69988303 + Missense_Mutation SNP A A G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 3 69988303 69988303 A G SNP MITF ENST00000448226 human ensembl 74_37 +1 known missense c.637 p.N213D 1.000 NULL pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MITF HGNC ENSG00000187098 46 0 0 58 5 7.93651 CPNE9 0 genome.wustl.edu 37 3 9746659 9746659 + Nonsense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 3 9746659 9746659 C T SNP CPNE9 ENST00000383832 human ensembl 74_37 +1 known nonsense c.241 p.Q81* 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE9 HGNC ENSG00000144550 22 0 0 30 5 14.2857 BRPF1 0 genome.wustl.edu 37 3 9788874 9788874 + Silent SNP G G C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 3 9788874 9788874 G C SNP BRPF1 ENST00000383829 human ensembl 74_37 +1 known silent c.3504 p.L1168 0.933 pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 242 0 0 189 60 24.0964 FAT4 0 genome.wustl.edu 37 4 126372210 126372210 + Missense_Mutation SNP C C A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 4 126372210 126372210 C A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.10039 p.Q3347K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 265 1 0.37594 120 93 43.662 FAT4 0 genome.wustl.edu 37 4 126411351 126411351 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 4 126411351 126411351 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.13374 p.T4458 0.001 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 122 0 0 77 34 30.6306 GLRB 0 genome.wustl.edu 37 4 158060076 158060076 + Missense_Mutation SNP C C A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 4 158060076 158060076 C A SNP GLRB ENST00000264428 human ensembl 74_37 +1 known missense c.726 p.N242K 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRB HGNC ENSG00000109738 110 0 0 104 7 6.30631 MARCH1 0 genome.wustl.edu 37 4 164506905 164506905 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 4 164506905 164506905 C T SNP MARCH1 ENST00000274056 human ensembl 74_37 -1 known missense c.419 p.R140Q 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors MARCH1 HGNC ENSG00000145416 180 0 0 168 9 5.08475 UGDH 0 genome.wustl.edu 37 4 39505505 39505505 + Missense_Mutation SNP A A G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 4 39505505 39505505 A G SNP UGDH ENST00000316423 human ensembl 74_37 -1 known missense c.1364 p.I455T 1.000 NULL pfam_UDP-Glc/GDP-Man_DH_N,pfam_UDP-Glc/GDP-Man_DH_C,pfam_UDP-Glc/GDP-Man_DH_dimer,superfamily_UDP-Glc/GDP-Man_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_UDP-Glc/GDP-Man - no_errors UGDH HGNC ENSG00000109814 94 0 0 64 18 21.9512 RBM47 0 genome.wustl.edu 37 4 40439969 40439969 + Silent SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 4 40439969 40439969 C T SNP RBM47 ENST00000295971 human ensembl 74_37 -1 known silent c.942 p.T314 0.976 smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM47 HGNC ENSG00000163694 80 0 0 52 27 34.1772 EPHA5 0 genome.wustl.edu 37 4 66509144 66509144 + Silent SNP C C A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 4 66509144 66509144 C A SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known silent c.183 p.V61 1.000 pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_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 84 0 0 79 19 19.3878 UGT2B17 0 genome.wustl.edu 37 4 69433646 69433646 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 4 69433646 69433646 C T SNP UGT2B17 ENST00000317746 human ensembl 74_37 -1 known missense c.557 p.G186E 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B17 HGNC ENSG00000197888 178 0 0 145 58 28.5714 YTHDC2 0 genome.wustl.edu 37 5 112868662 112868662 + Silent SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 5 112868662 112868662 C T SNP YTHDC2 ENST00000161863 human ensembl 74_37 +1 known silent c.762 p.I254 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC ENSG00000047188 200 0 0 173 39 18.3962 TCF7 0 genome.wustl.edu 37 5 133478792 133478792 + Splice_Site SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 5 133478792 133478792 G A SNP TCF7 ENST00000321584 human ensembl 74_37 +1 known splice_site c.1026+1 e8+1 1.000 - - - no_errors TCF7 HGNC ENSG00000081059 12 0 0 6 4 40 PCDHA9 0 genome.wustl.edu 37 5 140229470 140229470 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 5 140229470 140229470 G A SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known missense c.1390 p.V464M 0.899 pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 111 0 0 96 23 19.3277 PCDHA12 0 genome.wustl.edu 37 5 140256833 140256833 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 5 140256833 140256833 G A SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known silent c.1776 p.A592 0.546 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 72 0 0 69 13 15.8537 PCDHB13 0 genome.wustl.edu 37 5 140595315 140595315 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 5 140595315 140595315 G A SNP PCDHB13 ENST00000341948 human ensembl 74_37 +1 known silent c.1620 p.A540 0.177 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 PCDHB13 HGNC ENSG00000187372 90 0 0 58 13 18.3099 FGF1 0 genome.wustl.edu 37 5 141993608 141993608 + Missense_Mutation SNP G G T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 5 141993608 141993608 G T SNP FGF1 ENST00000337706 human ensembl 74_37 -1 known missense c.85 p.L29I 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF1 HGNC ENSG00000113578 155 0 0 120 23 16.0839 FAT2 0 genome.wustl.edu 37 5 150891882 150891882 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 5 150891882 150891882 C T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.11749 p.V3917M 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G 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 139 0 0 122 26 17.5676 SLIT3 0 genome.wustl.edu 37 5 168175345 168175345 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 5 168175345 168175345 G A SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known silent c.2232 p.R744 0.000 pfam_LRR-contain_N,smart_LRR-contain_N pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 160 0 0 123 34 21.6561 GFPT2 0 genome.wustl.edu 37 5 179763495 179763495 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 5 179763495 179763495 G A SNP GFPT2 ENST00000253778 human ensembl 74_37 -1 known silent c.198 p.L66 0.886 NULL pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC ENSG00000131459 421 0 0 257 130 33.5917 SDHA 0 genome.wustl.edu 37 5 256491 256491 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 5 256491 256491 G A SNP SDHA ENST00000264932 human ensembl 74_37 +1 known missense c.1951 p.E651K 1.000 pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Succ_DH/fumarate_Rdtase_cat,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg - no_errors SDHA HGNC ENSG00000073578 147 0 0 106 28 20.8955 SV2C 0 genome.wustl.edu 37 5 75587088 75587088 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 5 75587088 75587088 G A SNP SV2C ENST00000502798 human ensembl 74_37 +1 known missense c.1180 p.E394K 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2C HGNC ENSG00000122012 82 0 0 66 4 5.71429 NCOA7 0 genome.wustl.edu 37 6 126249822 126249822 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 6 126249822 126249822 G A SNP NCOA7 ENST00000368357 human ensembl 74_37 +1 known missense c.2734 p.G912R 1.000 pfam_TLDc,smart_TLDc pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc - no_errors NCOA7 HGNC ENSG00000111912 252 0 0 190 34 15.1786 PERP 0 genome.wustl.edu 37 6 138413398 138413398 + Missense_Mutation SNP G G C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 6 138413398 138413398 G C SNP PERP ENST00000421351 human ensembl 74_37 -1 known missense c.363 p.F121L 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin - no_errors PERP HGNC ENSG00000112378 67 0 0 65 11 14.4737 SNX9 0 genome.wustl.edu 37 6 158296134 158296134 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 6 158296134 158296134 G A SNP SNX9 ENST00000392185 human ensembl 74_37 +1 known missense c.226 p.D76N 1.000 pirsf_Snx9 pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX9 HGNC ENSG00000130340 114 0 0 80 27 25.2336 IGF2R 0 genome.wustl.edu 37 6 160526045 160526045 + Nonsense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 6 160526045 160526045 C T SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known nonsense c.7405 p.Q2469* 0.003 NULL pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 48 0 0 20 19 48.7179 KIAA0319 0 genome.wustl.edu 37 6 24559301 24559301 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 6 24559301 24559301 G A SNP KIAA0319 ENST00000378214 human ensembl 74_37 -1 known missense c.2674 p.R892W 0.410 NULL pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 38 0 0 22 3 12 DST 0 genome.wustl.edu 37 6 56462620 56462620 + Missense_Mutation SNP T T C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 6 56462620 56462620 T C SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.12020 p.N4007S 1.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 230 0 0 139 75 35.0467 KIAA1586 0 genome.wustl.edu 37 6 56919487 56919487 + Silent SNP A A T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 6 56919487 56919487 A T SNP KIAA1586 ENST00000370733 human ensembl 74_37 +1 known silent c.2190 p.V730 0.114 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom - no_errors KIAA1586 HGNC ENSG00000168116 12 0 0 4 4 50 COL12A1 0 genome.wustl.edu 37 6 75797371 75797371 + Nonsense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 6 75797371 75797371 G A SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known nonsense c.9103 p.R3035* 0.988 NULL pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 149 0 0 82 71 46.4052 TTK 0 genome.wustl.edu 37 6 80745071 80745071 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 6 80745071 80745071 C T SNP TTK ENST00000369798 human ensembl 74_37 +1 known missense c.1861 p.P621S 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTK HGNC ENSG00000112742 162 0 0 132 43 24.5714 CYB5R4 0 genome.wustl.edu 37 6 84646074 84646074 + Missense_Mutation SNP G G C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 6 84646074 84646074 G C SNP CYB5R4 ENST00000369681 human ensembl 74_37 +1 known missense c.1087 p.E363Q 0.781 pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl pfam_Cyt_B5-like_heme/steroid-bd,pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,pfam_CS_dom,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_Riboflavin_synthase-like_b-brl,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Cyt_B5-like_heme/steroid-bd,prints_NADH-Cyt_B5_reductase,prints_Cyt_B5-like_heme/steroid-bd - no_errors CYB5R4 HGNC ENSG00000065615 96 0 0 91 20 18.018 KCND2 0 genome.wustl.edu 37 7 120387763 120387763 + Nonsense_Mutation SNP G G T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 7 120387763 120387763 G T SNP KCND2 ENST00000331113 human ensembl 74_37 +1 known nonsense c.1744 p.E582* 1.000 prints_K_chnl_volt-dep_Kv4.2 pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 99 0 0 101 48 32.2148 SMO 0 genome.wustl.edu 37 7 128846389 128846389 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 7 128846389 128846389 G A SNP SMO ENST00000249373 human ensembl 74_37 +1 known missense c.1225 p.G409S 1.000 pfam_Frizzled,pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors SMO HGNC ENSG00000128602 272 0 0 182 296 61.9247 KEL 0 genome.wustl.edu 37 7 142659403 142659403 + RNA SNP A A C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 7 142659403 142659403 A C SNP KEL ENST00000479768 human ensembl 74_37 -1 known rna NULL NULL 0.311 - - - no_errors KEL HGNC ENSG00000197993 39 0 0 33 25 43.1034 CNTNAP2 0 genome.wustl.edu 37 7 147844745 147844745 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 7 147844745 147844745 G A SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.2717 p.R906H 0.999 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 72 0 0 67 69 50.7353 ZNF746 0 genome.wustl.edu 37 7 149191094 149191094 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 7 149191094 149191094 G A SNP ZNF746 ENST00000458143 human ensembl 74_37 -1 known missense c.392 p.T131M 0.989 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_DUF3669_Znf,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 ZNF746 HGNC ENSG00000181220 171 0 0 57 189 76.8293 DNAH11 0 genome.wustl.edu 37 7 21598554 21598554 + Silent SNP T T G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 7 21598554 21598554 T G SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known silent c.630 p.T210 0.998 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 36 0 0 14 25 64.1026 ZNF733P 0 genome.wustl.edu 37 7 62752433 62752433 + RNA SNP C C A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 7 62752433 62752433 C A SNP ZNF733P ENST00000331425 human ensembl 74_37 -1 known rna NULL NULL 0.730 - - - no_errors ZNF733P HGNC ENSG00000185037 61 0 0 50 28 35.8974 TRIM50 0 genome.wustl.edu 37 7 72734221 72734221 + Silent SNP G G T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 7 72734221 72734221 G T SNP TRIM50 ENST00000333149 human ensembl 74_37 -1 known silent c.420 p.I140 0.930 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM50 HGNC ENSG00000146755 218 0 0 184 33 15.2074 ABCB4 0 genome.wustl.edu 37 7 87074291 87074291 + Missense_Mutation SNP C C A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 7 87074291 87074291 C A SNP ABCB4 ENST00000265723 human ensembl 74_37 -1 known missense c.1006 p.V336F 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB4 HGNC ENSG00000005471 43 0 0 44 33 42.8571 ABCB1 0 genome.wustl.edu 37 7 87174159 87174159 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 7 87174159 87174159 G A SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known missense c.2044 p.L682F 0.016 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 244 0 0 166 238 58.9109 LRP12 0 genome.wustl.edu 37 8 105509670 105509670 + Missense_Mutation SNP T T G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 8 105509670 105509670 T G SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.1053 p.Q351H 0.995 superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 183 0 0 166 142 46.1039 CSMD3 0 genome.wustl.edu 37 8 113392635 113392635 + Missense_Mutation SNP T T G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 8 113392635 113392635 T G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.6082 p.N2028H 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 165 0 0 270 52 16.1491 TUSC3 0 genome.wustl.edu 37 8 15601095 15601095 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 8 15601095 15601095 C T SNP TUSC3 ENST00000503731 human ensembl 74_37 +1 known missense c.911 p.S304L 1.000 pfam_OligosaccharylTrfase_OST3/OST6 pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TUSC3 HGNC ENSG00000104723 266 1 0.374532 214 15 6.55022 SULF1 0 genome.wustl.edu 37 8 70512983 70512983 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 8 70512983 70512983 G A SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known missense c.880 p.E294K 1.000 pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 178 0 0 192 124 39.2405 SVEP1 0 genome.wustl.edu 37 9 113234518 113234518 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 9 113234518 113234518 G A SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known silent c.2685 p.I895 0.000 NULL pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 324 0 0 176 130 42.4837 PAPPA 0 genome.wustl.edu 37 9 119097300 119097300 + Silent SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 9 119097300 119097300 C T SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known silent c.3558 p.P1186 1.000 NULL pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 120 0 0 116 23 16.5468 PRRX2 0 genome.wustl.edu 37 9 132484623 132484623 + Missense_Mutation SNP G G T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 9 132484623 132484623 G T SNP PRRX2 ENST00000372469 human ensembl 74_37 +1 known missense c.754 p.V252L 0.999 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors PRRX2 HGNC ENSG00000167157 41 0 0 46 12 20.6897 LAMC3 0 genome.wustl.edu 37 9 133963174 133963174 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 9 133963174 133963174 G A SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known missense c.4447 p.E1483K 0.064 NULL pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 87 0 0 49 20 28.9855 PLAA 0 genome.wustl.edu 37 9 26906075 26906075 + Splice_Site SNP C C G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 9 26906075 26906075 C G SNP PLAA ENST00000397292 human ensembl 74_37 -1 known splice_site c.1823-1 e14-1 1.000 - - - no_errors PLAA HGNC ENSG00000137055 68 0 0 51 14 21.5385 ATP11C 0 genome.wustl.edu 37 X 138864763 138864763 + Missense_Mutation SNP A A G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 X 138864763 138864763 A G SNP ATP11C ENST00000327569 human ensembl 74_37 -1 known missense c.1904 p.V635A 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11C HGNC ENSG00000101974 92 0 0 80 20 20 OPN1LW 0 genome.wustl.edu 37 X 153420176 153420176 + Missense_Mutation SNP A A G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 X 153420176 153420176 A G SNP OPN1LW ENST00000369951 human ensembl 74_37 +1 known missense c.706 p.M236V 0.379 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1LW HGNC ENSG00000102076 165 0 0 148 68 31.4815 STARD8 0 genome.wustl.edu 37 X 67940949 67940949 + Missense_Mutation SNP C C A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 X 67940949 67940949 C A SNP STARD8 ENST00000374599 human ensembl 74_37 +1 known missense c.2233 p.L745I 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD8 HGNC ENSG00000130052 59 0 0 69 6 8 DLG3 0 genome.wustl.edu 37 X 69719090 69719090 + Silent SNP C C A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 X 69719090 69719090 C A SNP DLG3 ENST00000194900 human ensembl 74_37 +1 known silent c.2031 p.I677 0.992 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG3 HGNC ENSG00000082458 61 0 0 38 23 37.7049 SOX9 0 genome.wustl.edu 37 17 70118940 70118941 + Frame_Shift_Ins INS - - T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 17 70118940 70118941 - T INS SOX9 ENST00000245479 human ensembl 74_37 +1 known frame_shift_ins c.512_513 p.Y172fs 1.000:0.998 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_Sox_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX9 HGNC ENSG00000125398 52 0 0 51 8 13.5593 ZNF701 0 genome.wustl.edu 37 19 53086371 53086371 + Frame_Shift_Del DEL A A - TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 19 53086371 53086371 A - DEL ZNF701 ENST00000301093 human ensembl 74_37 +1 known frame_shift_del c.1257 p.Y420fs 0.338 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 ZNF701 HGNC ENSG00000167562 197 0 0 193 25 11.4679