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 ACOT8 10005 genome.wustl.edu 37 20 44485852 44485852 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 20 44485852 44485852 C G SNP ACOT8 ENST00000217455 human ensembl 70_37 -1 known missense c.103 p.E35Q 1.000 tigrfam_Acyl_CoA_thio pfam_Acyl_CoA_thio_II_dom,tigrfam_Acyl_CoA_thio - no_errors ACOT8 HGNC ACSBG1 23205 genome.wustl.edu 37 15 78471012 78471012 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 15 78471012 78471012 C T SNP ACSBG1 ENST00000258873 human ensembl 70_37 -1 known missense c.1646 p.G549D 0.991 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSBG1 HGNC ADAP2 55803 genome.wustl.edu 37 17 29283385 29283385 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 29283385 29283385 C T SNP ADAP2 ENST00000330889 human ensembl 70_37 +1 known missense c.1009 p.R337W 0.776 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_Pleckstrin_homology,smart_ArfGAP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ADAP2 HGNC ADAR 103 genome.wustl.edu 37 1 154560627 154560627 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 154560627 154560627 C G SNP ADAR ENST00000292205 human ensembl 70_37 -1 known missense c.3122 p.G1041A 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_Ds-RNA-bd,smart_dsRNA_A_deaminase,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC AFAP1L2 84632 genome.wustl.edu 37 10 116054775 116054776 + RNA INS - - A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 10 116054775 116054776 - A INS AFAP1L2 ENST00000491814 human ensembl 70_37 -1 known rna NULL NULL 0.222:0.000 - - - no_errors AFAP1L2 HGNC AIRE 326 genome.wustl.edu 37 21 45711044 45711044 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 21 45711044 45711044 C T SNP AIRE ENST00000291582 human ensembl 70_37 +1 known missense c.946 p.R316W 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Sp100,pfam_Znf_PHD-finger,pfam_SAND_dom,superfamily_Znf_FYVE_PHD,superfamily_SAND_dom-like,smart_SAND_dom,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_SAND_dom,prints_AIRE - no_errors AIRE HGNC ALG8 79053 genome.wustl.edu 37 11 77823804 77823804 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 11 77823804 77823804 G C SNP ALG8 ENST00000299626 human ensembl 70_37 -1 known missense c.790 p.Q264E 1.000 pfam_Glyco_trans_ALG6/ALG8 pfam_Glyco_trans_ALG6/ALG8 - no_errors ALG8 HGNC ALOX15B 247 genome.wustl.edu 37 17 7950658 7950658 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 7950658 7950658 G C SNP ALOX15B ENST00000380183 human ensembl 70_37 +1 known missense c.1540 p.E514Q 1.000 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX15B HGNC ALPK2 115701 genome.wustl.edu 37 18 56247685 56247685 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 18 56247685 56247685 G A SNP ALPK2 ENST00000361673 human ensembl 70_37 -1 known missense c.323 p.S108L 0.000 pfscan_Ig-like pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK2 HGNC ARHGEF9 23229 genome.wustl.edu 37 X 62974366 62974366 + RNA SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 X 62974366 62974366 C T SNP ARHGEF9 ENST00000495564 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ARHGEF9 HGNC ATL3 25923 genome.wustl.edu 37 11 63403049 63403049 + Missense_Mutation SNP A A G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 11 63403049 63403049 A G SNP ATL3 ENST00000332645 human ensembl 70_37 -1 known missense c.1073 p.I358T 1.000 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors ATL3 HGNC ATP6V0A4 50617 genome.wustl.edu 37 7 138455977 138455977 + Nonsense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 138455977 138455977 G A SNP ATP6V0A4 ENST00000310018 human ensembl 70_37 -1 known nonsense c.16 p.R6* 1.000 NULL pfam_ATPase_V0/A0_a - no_errors ATP6V0A4 HGNC ATP6V0E2 155066 genome.wustl.edu 37 7 149571037 149571037 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 149571037 149571037 C T SNP ATP6V0E2 ENST00000421974 human ensembl 70_37 +1 known silent c.30 p.I10 0.000 NULL pfam_ATPase_V0-cplx_esu - no_errors ATP6V0E2 HGNC BAD 572 genome.wustl.edu 37 11 64039170 64039170 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 11 64039170 64039170 C T SNP BAD ENST00000309032 human ensembl 70_37 -1 known missense c.293 p.R98H 0.991 pfam_Bcl-2_BAD pfam_Bcl-2_BAD - no_errors BAD HGNC BOD1L1 259282 genome.wustl.edu 37 4 13601904 13601904 + Nonsense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 4 13601904 13601904 G C SNP BOD1L1 ENST00000040738 human ensembl 70_37 -1 known nonsense c.6620 p.S2207* 0.829 NULL NULL - no_errors BOD1L1 HGNC BPIFA4P 317716 genome.wustl.edu 37 20 31789434 31789434 + RNA SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 20 31789434 31789434 G C SNP BPIFA4P ENST00000375465 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors BPIFA4P HGNC BRAF 673 genome.wustl.edu 37 7 140550007 140550007 + Nonsense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 140550007 140550007 C T SNP BRAF ENST00000288602 human ensembl 70_37 -1 known nonsense c.144 p.W48* 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors BRAF HGNC C10orf128 170371 genome.wustl.edu 37 10 50375960 50375960 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 10 50375960 50375960 C T SNP C10orf128 ENST00000374151 human ensembl 70_37 -1 known missense c.91 p.E31K 0.038 NULL NULL - no_errors C10orf128 HGNC C20orf195 79025 genome.wustl.edu 37 20 62187653 62187653 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 20 62187653 62187653 G C SNP C20orf195 ENST00000370097 human ensembl 70_37 +1 known missense c.637 p.D213H 1.000 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3 - no_errors C20orf195 HGNC C20orf196 149840 genome.wustl.edu 37 20 5753783 5753783 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 20 5753783 5753783 C G SNP C20orf196 ENST00000378979 human ensembl 70_37 +1 known missense c.184 p.L62V 0.003 NULL NULL - no_errors C20orf196 HGNC C4orf21 55345 genome.wustl.edu 37 4 113538928 113538928 + Frame_Shift_Del DEL T T - TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 4 113538928 113538928 T - DEL C4orf21 ENST00000505019 human ensembl 70_37 -1 known frame_shift_del c.2270 p.N757fs 0.000 NULL pfam_DUF2439,pfam_Znf_GRF - no_errors C4orf21 HGNC CABYR 26256 genome.wustl.edu 37 18 21723170 21723170 + Nonsense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 18 21723170 21723170 C G SNP CABYR ENST00000463087 human ensembl 70_37 +1 known nonsense c.92 p.S31* 0.258 pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b - no_errors CABYR HGNC CAMTA1 23261 genome.wustl.edu 37 1 7309668 7309668 + Silent SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 7309668 7309668 C G SNP CAMTA1 ENST00000303635 human ensembl 70_37 +1 known silent c.420 p.L140 1.000 pfam_CG-1_dom pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC CARD9 64170 genome.wustl.edu 37 9 139264763 139264763 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 139264763 139264763 C T SNP CARD9 ENST00000371732 human ensembl 70_37 -1 known missense c.934 p.E312K 0.999 NULL pfam_CARD,superfamily_DEATH-like,pfscan_CARD - no_errors CARD9 HGNC CCDC141 285025 genome.wustl.edu 37 2 179702250 179702250 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 2 179702250 179702250 C T SNP CCDC141 ENST00000420890 human ensembl 70_37 -1 known missense c.3696 p.M1232I 1.000 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CCDC141 HGNC CCDC40 55036 genome.wustl.edu 37 17 78055562 78055562 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 78055562 78055562 G C SNP CCDC40 ENST00000397545 human ensembl 70_37 +1 known missense c.1780 p.E594Q 0.739 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC CCKAR 886 genome.wustl.edu 37 4 26491813 26491813 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 4 26491813 26491813 G A SNP CCKAR ENST00000295589 human ensembl 70_37 -1 known missense c.77 p.T26M 0.995 pfam_CholecystokininA_recpt_N,prints_Cholcy_rcpt_A pfam_GPCR_Rhodpsn,pfam_CholecystokininA_recpt_N,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcy_rcpt_A,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_Gastrin_rcpt,prints_NPY_rcpt - no_errors CCKAR HGNC CCT6P1 643253 genome.wustl.edu 37 7 65224225 65224225 + RNA SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 65224225 65224225 G A SNP CCT6P1 ENST00000442266 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CCT6P1 HGNC CELSR1 9620 genome.wustl.edu 37 22 46931242 46931242 + Missense_Mutation SNP G G T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 22 46931242 46931242 G T SNP CELSR1 ENST00000262738 human ensembl 70_37 -1 known missense c.1826 p.S609Y 0.112 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC CHERP 10523 genome.wustl.edu 37 19 16631642 16631642 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 19 16631642 16631642 C T SNP CHERP ENST00000546361 human ensembl 70_37 -1 known silent c.2196 p.R732 1.000 NULL pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors CHERP HGNC CHKB 1120 genome.wustl.edu 37 22 51019907 51019907 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 22 51019907 51019907 G C SNP CHKB ENST00000406938 human ensembl 70_37 -1 known missense c.523 p.H175D 1.000 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom - no_errors CHKB HGNC CIDEC 63924 genome.wustl.edu 37 3 9911955 9911955 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 9911955 9911955 C T SNP CIDEC ENST00000336832 human ensembl 70_37 -1 known missense c.259 p.E87K 1.000 pfam_CAD,smart_CAD,pfscan_CAD pfam_CAD,smart_CAD,pfscan_CAD - no_errors CIDEC HGNC CIZ1 25792 genome.wustl.edu 37 9 130950164 130950164 + Silent SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 130950164 130950164 G C SNP CIZ1 ENST00000538431 human ensembl 70_37 -1 known silent c.336 p.L112 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin - no_errors CIZ1 HGNC CLIC5 53405 genome.wustl.edu 37 6 46047621 46047621 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 46047621 46047621 C T SNP CLIC5 ENST00000185206 human ensembl 70_37 -1 known missense c.359 p.C120Y 0.000 NULL superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC5 HGNC CNGA3 1261 genome.wustl.edu 37 2 99006149 99006149 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 2 99006149 99006149 G A SNP CNGA3 ENST00000272602 human ensembl 70_37 +1 known missense c.478 p.V160M 0.893 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA3 HGNC CNTRL 11064 genome.wustl.edu 37 9 123907225 123907225 + Silent SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 123907225 123907225 G A SNP CNTRL ENST00000238341 human ensembl 70_37 +1 known silent c.3156 p.Q1052 0.854 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC COL12A1 1303 genome.wustl.edu 37 6 75812365 75812365 + Missense_Mutation SNP T T G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 75812365 75812365 T G SNP COL12A1 ENST00000322507 human ensembl 70_37 -1 known missense c.8363 p.Q2788P 1.000 pfam_Collagen 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 CROCCP2 84809 genome.wustl.edu 37 1 16945294 16945294 + RNA SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 16945294 16945294 C T SNP CROCCP2 ENST00000412962 human ensembl 70_37 -1 known rna NULL NULL 0.136 - - - no_errors CROCCP2 HGNC CTSG 1511 genome.wustl.edu 37 14 25044601 25044601 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 14 25044601 25044601 G A SNP CTSG ENST00000216336 human ensembl 70_37 -1 known missense c.73 p.R25W 0.934 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CTSG HGNC CUL9 23113 genome.wustl.edu 37 6 43153970 43153970 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 43153970 43153970 C T SNP CUL9 ENST00000252050 human ensembl 70_37 +1 known missense c.1028 p.S343L 0.034 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC CYP21A2 1589 genome.wustl.edu 37 6 32008517 32008517 + Silent SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 32008517 32008517 G A SNP CYP21A2 ENST00000418967 human ensembl 70_37 +1 known silent c.1191 p.T397 0.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP21A2 HGNC CYP3A7 1551 genome.wustl.edu 37 7 99311102 99311102 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 99311102 99311102 C T SNP CYP3A7 ENST00000336374 human ensembl 70_37 -1 known silent c.855 p.E285 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A7 HGNC DENND4C 55667 genome.wustl.edu 37 9 19372056 19372056 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 19372056 19372056 G A SNP DENND4C ENST00000380437 human ensembl 70_37 +1 known missense c.4907 p.G1636E 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC DIS3L2 129563 genome.wustl.edu 37 2 233201339 233201339 + Nonstop_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 2 233201339 233201339 G C SNP DIS3L2 ENST00000325385 human ensembl 70_37 +1 known nonstop c.2657 p.*886S 0.001 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors DIS3L2 HGNC DLC1 10395 genome.wustl.edu 37 8 12943362 12943362 + Silent SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 8 12943362 12943362 G A SNP DLC1 ENST00000276297 human ensembl 70_37 -1 known silent c.4545 p.F1515 0.997 pfam_START_lipid-bd,smart_START_lipid-bd pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors DLC1 HGNC DLGAP4 22839 genome.wustl.edu 37 20 35155325 35155325 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 20 35155325 35155325 G A SNP DLGAP4 ENST00000339266 human ensembl 70_37 +1 known missense c.2870 p.R957H 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP4 HGNC DMRTC2 63946 genome.wustl.edu 37 19 42351527 42351527 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 19 42351527 42351527 C T SNP DMRTC2 ENST00000269945 human ensembl 70_37 +1 known missense c.31 p.H11Y 0.975 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTC2 HGNC DNAH1 25981 genome.wustl.edu 37 3 52402868 52402868 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 52402868 52402868 G A SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known missense c.5877 p.M1959I 1.000 pfam_ATPase_dyneun-rel_AAA pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC DNAH1 25981 genome.wustl.edu 37 3 52404213 52404213 + Missense_Mutation SNP G G T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 52404213 52404213 G T SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known missense c.6226 p.D2076Y 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC DNAH1 25981 genome.wustl.edu 37 3 52404241 52404241 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 52404241 52404241 G C SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known missense c.6254 p.R2085T 0.001 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC DPPA3 359787 genome.wustl.edu 37 12 7868017 7868017 + Silent SNP T T G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 12 7868017 7868017 T G SNP DPPA3 ENST00000345088 human ensembl 70_37 +1 known silent c.321 p.V107 0.000 NULL NULL - no_errors DPPA3 HGNC DPPA3 359787 genome.wustl.edu 37 12 7868018 7868018 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 12 7868018 7868018 C T SNP DPPA3 ENST00000345088 human ensembl 70_37 +1 known missense c.322 p.R108C 0.000 NULL NULL - no_errors DPPA3 HGNC DST 667 genome.wustl.edu 37 6 56481855 56481855 + Missense_Mutation SNP G G T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 56481855 56481855 G T SNP DST ENST00000370765 human ensembl 70_37 -1 known missense c.6410 p.T2137N 1.000 smart_Plectin_repeat pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC DUSP8 1850 genome.wustl.edu 37 11 1580137 1580137 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 11 1580137 1580137 C T SNP DUSP8 ENST00000331588 human ensembl 70_37 -1 known silent c.519 p.Q173 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP8 HGNC DUSP8 1850 genome.wustl.edu 37 11 1580215 1580215 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 11 1580215 1580215 C T SNP DUSP8 ENST00000331588 human ensembl 70_37 -1 known missense c.441 p.M147I 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP8 HGNC EFTUD2 9343 genome.wustl.edu 37 17 42949823 42949823 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 42949823 42949823 C T SNP EFTUD2 ENST00000426333 human ensembl 70_37 -1 known missense c.985 p.D329N 1.000 pfam_EF_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD2 HGNC AGO4 192670 genome.wustl.edu 37 1 36297122 36297122 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 36297122 36297122 C T SNP EIF2C4 ENST00000373210 human ensembl 70_37 +1 known missense c.943 p.L315F 1.000 pfam_PAZ,superfamily_PAZ,smart_PAZ,pfscan_PAZ pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C4 HGNC AGO4 192670 genome.wustl.edu 37 1 36297445 36297445 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 36297445 36297445 C T SNP EIF2C4 ENST00000373210 human ensembl 70_37 +1 known silent c.1029 p.I343 0.826 pfam_PAZ,superfamily_PAZ,smart_PAZ pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C4 HGNC ENO3 2027 genome.wustl.edu 37 17 4856159 4856159 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 4856159 4856159 G A SNP ENO3 ENST00000323997 human ensembl 70_37 +1 known missense c.155 p.G52E 1.000 pfam_Enolase_N,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO3 HGNC ENO3 2027 genome.wustl.edu 37 17 4856627 4856627 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 4856627 4856627 G A SNP ENO3 ENST00000323997 human ensembl 70_37 +1 known missense c.301 p.E101K 1.000 pfam_Enolase_N,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO3 HGNC ENO3 2027 genome.wustl.edu 37 17 4857069 4857069 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 4857069 4857069 G A SNP ENO3 ENST00000323997 human ensembl 70_37 +1 known missense c.373 p.E125K 0.998 pfam_Enolase_N,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO3 HGNC ENO3 2027 genome.wustl.edu 37 17 4857102 4857102 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 4857102 4857102 G A SNP ENO3 ENST00000323997 human ensembl 70_37 +1 known missense c.406 p.D136N 1.000 pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO3 HGNC ENSG00000170858 0 genome.wustl.edu 37 19 55224638 55224638 + RNA SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 19 55224638 55224638 C T SNP ENSG00000170858 ENST00000413439 human ensembl 70_37 +1 known rna NULL NULL 0.039 - - - no_errors AC006293.3 Clone_based_vega_gene ENSG00000233145 0 genome.wustl.edu 37 X 139099965 139099965 + RNA SNP A A G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 X 139099965 139099965 A G SNP ENSG00000233145 ENST00000417426 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-364B14.1 Clone_based_vega_gene ENSG00000244137 0 genome.wustl.edu 37 1 230931123 230931123 + RNA SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 230931123 230931123 G C SNP ENSG00000244137 ENST00000412344 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors RP11-99J16__A.2 Clone_based_vega_gene ENTHD2 146705 genome.wustl.edu 37 17 79211199 79211199 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 79211199 79211199 C T SNP ENTHD2 ENST00000300714 human ensembl 70_37 -1 known missense c.109 p.E37K 1.000 pfam_Epsin_dom_N,superfamily_ENTH_VHS pfam_Epsin_dom_N,superfamily_ENTH_VHS - no_errors ENTHD2 HGNC EP300 2033 genome.wustl.edu 37 22 41545822 41545822 + Nonsense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 22 41545822 41545822 C T SNP EP300 ENST00000263253 human ensembl 70_37 +1 known nonsense c.2437 p.Q813* 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC EPHA4 2043 genome.wustl.edu 37 2 222283898 222283898 + RNA SNP G G T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 2 222283898 222283898 G T SNP EPHA4 ENST00000469354 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors EPHA4 HGNC ERCC6L2 375748 genome.wustl.edu 37 9 98717083 98717083 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 98717083 98717083 G C SNP ERCC6L2 ENST00000456993 human ensembl 70_37 +1 known missense c.1000 p.E334Q 0.000 pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C - no_errors ERCC6L2 HGNC ESPNL 339768 genome.wustl.edu 37 2 239010706 239010706 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 2 239010706 239010706 C T SNP ESPNL ENST00000343063 human ensembl 70_37 +1 known missense c.419 p.P140L 0.966 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ESPNL HGNC ESRP2 80004 genome.wustl.edu 37 16 68265116 68265116 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 16 68265116 68265116 C T SNP ESRP2 ENST00000565858 human ensembl 70_37 -1 known missense c.1706 p.R569H 1.000 NULL superfamily_RNaseH-like_dom,smart_RRM_dom - no_errors ESRP2 HGNC EVX1 2128 genome.wustl.edu 37 7 27285668 27285668 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 27285668 27285668 C T SNP EVX1 ENST00000496902 human ensembl 70_37 +1 known missense c.848 p.S283L 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors EVX1 HGNC EXOC5 10640 genome.wustl.edu 37 14 57675407 57675407 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 14 57675407 57675407 G C SNP EXOC5 ENST00000413566 human ensembl 70_37 -1 known missense c.2047 p.L683V 1.000 pfam_Sec10-like pfam_Sec10-like - no_errors EXOC5 HGNC EZR 7430 genome.wustl.edu 37 6 159188508 159188508 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 159188508 159188508 C T SNP EZR ENST00000337147 human ensembl 70_37 -1 known missense c.1381 p.E461K 1.000 pirsf_ERM,pfam_ERM_C pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin,prints_Band_41_fam - no_errors EZR HGNC FAM161B 145483 genome.wustl.edu 37 14 74409178 74409178 + Missense_Mutation SNP C C A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 14 74409178 74409178 C A SNP FAM161B ENST00000286544 human ensembl 70_37 -1 known missense c.1355 p.R452I 0.012 pfam_UPF0564 pfam_UPF0564 - no_errors FAM161B HGNC FAM194A 131831 genome.wustl.edu 37 3 150416593 150416593 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 150416593 150416593 C G SNP FAM194A ENST00000295910 human ensembl 70_37 -1 known missense c.538 p.D180H 0.000 NULL NULL - no_errors FAM194A HGNC FAM217B 63939 genome.wustl.edu 37 20 58519266 58519266 + Missense_Mutation SNP G G T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 20 58519266 58519266 G T SNP FAM217B ENST00000358293 human ensembl 70_37 +1 known missense c.268 p.D90Y 1.000 NULL NULL - no_errors FAM217B HGNC FBN3 84467 genome.wustl.edu 37 19 8182454 8182454 + Silent SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 19 8182454 8182454 C G SNP FBN3 ENST00000270509 human ensembl 70_37 -1 known silent c.3357 p.L1119 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC FBXL20 84961 genome.wustl.edu 37 17 37499487 37499487 + Nonsense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 37499487 37499487 G C SNP FBXL20 ENST00000264658 human ensembl 70_37 -1 known nonsense c.50 p.S17* 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL20 HGNC FLNC 2318 genome.wustl.edu 37 7 128489420 128489420 + Nonsense_Mutation SNP G G T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 128489420 128489420 G T SNP FLNC ENST00000325888 human ensembl 70_37 +1 known nonsense c.4987 p.E1663* 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC FLNC 2318 genome.wustl.edu 37 7 128492713 128492713 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 128492713 128492713 G A SNP FLNC ENST00000325888 human ensembl 70_37 +1 known missense c.5911 p.E1971K 1.000 superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC FOXK1 221937 genome.wustl.edu 37 7 4801904 4801904 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 4801904 4801904 G A SNP FOXK1 ENST00000328914 human ensembl 70_37 +1 known missense c.2011 p.E671K 1.000 NULL pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXK1 HGNC FRYL 285527 genome.wustl.edu 37 4 48592790 48592790 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 4 48592790 48592790 C G SNP FRYL ENST00000358350 human ensembl 70_37 -1 known missense c.1393 p.D465H 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC GBP4 115361 genome.wustl.edu 37 1 89658773 89658773 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 89658773 89658773 C G SNP GBP4 ENST00000355754 human ensembl 70_37 -1 known missense c.484 p.E162Q 1.000 pfam_Guanylate-bd_N pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C - no_errors GBP4 HGNC GCM2 9247 genome.wustl.edu 37 6 10874955 10874955 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 10874955 10874955 C T SNP GCM2 ENST00000379491 human ensembl 70_37 -1 known missense c.794 p.R265K 0.998 NULL pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM2 HGNC GLIS2 84662 genome.wustl.edu 37 16 4386876 4386876 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 16 4386876 4386876 C T SNP GLIS2 ENST00000262366 human ensembl 70_37 +1 known missense c.926 p.S309L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS2 HGNC GLIS2 84662 genome.wustl.edu 37 16 4386904 4386904 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 16 4386904 4386904 C T SNP GLIS2 ENST00000262366 human ensembl 70_37 +1 known silent c.954 p.G318 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS2 HGNC GLIS2 84662 genome.wustl.edu 37 16 4387480 4387480 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 16 4387480 4387480 C T SNP GLIS2 ENST00000262366 human ensembl 70_37 +1 known silent c.1530 p.V510 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS2 HGNC GNAI3 2773 genome.wustl.edu 37 1 110125079 110125079 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 110125079 110125079 G A SNP GNAI3 ENST00000369851 human ensembl 70_37 +1 known missense c.482 p.R161K 1.000 pfam_Gprotein_alpha_su,superfamily_GproteinA_insert,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_GproteinA - no_errors GNAI3 HGNC GNB1L 54584 genome.wustl.edu 37 22 19799874 19799874 + Silent SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 22 19799874 19799874 C G SNP GNB1L ENST00000329517 human ensembl 70_37 -1 known silent c.351 p.R117 0.917 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GNB1L HGNC GOLGA6L2 283685 genome.wustl.edu 37 15 23685649 23685649 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 15 23685649 23685649 C T SNP GOLGA6L2 ENST00000567107 human ensembl 70_37 -1 putative missense c.1973 p.R658K 0.003 NULL NULL - no_errors GOLGA6L2 HGNC GRIK5 2901 genome.wustl.edu 37 19 42510919 42510919 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 19 42510919 42510919 G C SNP GRIK5 ENST00000301218 human ensembl 70_37 -1 known missense c.1915 p.L639V 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC GRIN3B 116444 genome.wustl.edu 37 19 1005526 1005526 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 19 1005526 1005526 G A SNP GRIN3B ENST00000234389 human ensembl 70_37 +1 known missense c.2026 p.E676K 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN3B HGNC GTF3C1 2975 genome.wustl.edu 37 16 27556663 27556663 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 16 27556663 27556663 G A SNP GTF3C1 ENST00000356183 human ensembl 70_37 -1 known missense c.403 p.R135C 0.008 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC GTF3C6 112495 genome.wustl.edu 37 6 111279991 111279991 + Nonsense_Mutation SNP G G T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 111279991 111279991 G T SNP GTF3C6 ENST00000329970 human ensembl 70_37 +1 known nonsense c.19 p.E7* 0.004 NULL pfam_TFIIIC_tau55-rel - no_errors GTF3C6 HGNC GZMB 3002 genome.wustl.edu 37 14 25101087 25101087 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 14 25101087 25101087 C T SNP GZMB ENST00000382542 human ensembl 70_37 -1 known missense c.679 p.E227K 0.002 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors GZMB HGNC HCRTR1 3061 genome.wustl.edu 37 1 32084964 32084964 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 32084964 32084964 C T SNP HCRTR1 ENST00000373706 human ensembl 70_37 +1 known silent c.171 p.F57 0.996 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_1,prints_NPY_rcpt - no_errors HCRTR1 HGNC HEATR4 399671 genome.wustl.edu 37 14 73963365 73963365 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 14 73963365 73963365 C T SNP HEATR4 ENST00000334988 human ensembl 70_37 -1 known missense c.2565 p.M855I 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC HEATR6 63897 genome.wustl.edu 37 17 58156276 58156276 + RNA SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 58156276 58156276 C G SNP HEATR6 ENST00000585712 human ensembl 70_37 -1 known rna NULL NULL 0.649 - - - no_errors HEATR6 HGNC HELZ2 85441 genome.wustl.edu 37 20 62201861 62201861 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 20 62201861 62201861 G C SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known missense c.566 p.S189C 0.260 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC HEPH 9843 genome.wustl.edu 37 X 65486299 65486299 + Missense_Mutation SNP A A T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 X 65486299 65486299 A T SNP HEPH ENST00000519389 human ensembl 70_37 +1 known missense c.3424 p.I1142F 0.005 NULL pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC HIVEP1 3096 genome.wustl.edu 37 6 12164662 12164662 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 12164662 12164662 G A SNP HIVEP1 ENST00000379388 human ensembl 70_37 +1 known missense c.8125 p.D2709N 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC HMGB1P5 10354 genome.wustl.edu 37 3 22423698 22423698 + RNA SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 22423698 22423698 G A SNP HMGB1P5 ENST00000451497 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGB1P5 HGNC HNF1B 6928 genome.wustl.edu 37 17 36099473 36099473 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 36099473 36099473 G C SNP HNF1B ENST00000225893 human ensembl 70_37 -1 known missense c.502 p.L168V 1.000 pfam_HNF-1_N,superfamily_Lambda_DNA-bd_dom pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeodomain,pfscan_Homeodomain - no_errors HNF1B HGNC HSD17B7 51478 genome.wustl.edu 37 1 162773227 162773227 + Missense_Mutation SNP T T G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 162773227 162773227 T G SNP HSD17B7 ENST00000254521 human ensembl 70_37 +1 known missense c.649 p.Y217D 1.000 prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors HSD17B7 HGNC HSPB7 27129 genome.wustl.edu 37 1 16344400 16344400 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 16344400 16344400 G C SNP HSPB7 ENST00000487046 human ensembl 70_37 -1 known missense c.59 p.S20C 0.317 NULL pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors HSPB7 HGNC HSPG2 3339 genome.wustl.edu 37 1 22202144 22202144 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 22202144 22202144 C T SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known missense c.3280 p.A1094T 0.994 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC IFI16 3428 genome.wustl.edu 37 1 159021543 159021543 + Silent SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 159021543 159021543 G A SNP IFI16 ENST00000295809 human ensembl 70_37 +1 known silent c.1740 p.V580 0.149 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC IFI16 3428 genome.wustl.edu 37 1 159021552 159021552 + Silent SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 159021552 159021552 G A SNP IFI16 ENST00000295809 human ensembl 70_37 +1 known silent c.1749 p.L583 0.592 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC INSRR 3645 genome.wustl.edu 37 1 156814526 156814526 + Silent SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 156814526 156814526 G A SNP INSRR ENST00000368195 human ensembl 70_37 -1 known silent c.2547 p.Y849 0.979 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors INSRR HGNC ITCH 83737 genome.wustl.edu 37 20 33030037 33030037 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 20 33030037 33030037 C T SNP ITCH ENST00000262650 human ensembl 70_37 +1 known silent c.1017 p.H339 1.000 pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors ITCH HGNC JAM3 83700 genome.wustl.edu 37 11 134014899 134014899 + RNA SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 11 134014899 134014899 C G SNP JAM3 ENST00000532165 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors JAM3 HGNC KLHL41 10324 genome.wustl.edu 37 2 170366664 170366664 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 2 170366664 170366664 C T SNP KBTBD10 ENST00000284669 human ensembl 70_37 +1 known missense c.376 p.L126F 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD10 HGNC KIAA0100 9703 genome.wustl.edu 37 17 26969347 26969347 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 26969347 26969347 G C SNP KIAA0100 ENST00000005905 human ensembl 70_37 -1 known missense c.522 p.I174M 0.993 pfam_FMP27_N pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC KIAA0100 9703 genome.wustl.edu 37 17 26969920 26969920 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 26969920 26969920 C G SNP KIAA0100 ENST00000005905 human ensembl 70_37 -1 known missense c.482 p.R161T 0.995 pfam_FMP27_N pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC KIAA0100 9703 genome.wustl.edu 37 17 26970223 26970223 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 26970223 26970223 C T SNP KIAA0100 ENST00000005905 human ensembl 70_37 -1 known missense c.355 p.E119K 0.627 pfam_FMP27_N pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC KIAA0100 9703 genome.wustl.edu 37 17 26970293 26970293 + Nonsense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 26970293 26970293 G A SNP KIAA0100 ENST00000583403 human ensembl 70_37 -1 known nonsense c.235 p.Q79* 1.000 NULL NULL - no_errors KIAA0100 HGNC KIAA0754 643314 genome.wustl.edu 37 1 39878795 39878795 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 39878795 39878795 C T SNP KIAA0754 ENST00000530275 human ensembl 70_37 +1 known missense c.2450 p.P817L 0.003 NULL NULL - no_errors KIAA0754 HGNC KIAA0754 643314 genome.wustl.edu 37 1 39878942 39878942 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 39878942 39878942 C T SNP KIAA0754 ENST00000530275 human ensembl 70_37 +1 known missense c.2597 p.S866F 0.000 NULL NULL - no_errors KIAA0754 HGNC KIAA1009 22832 genome.wustl.edu 37 6 84836213 84836213 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 84836213 84836213 C T SNP KIAA1009 ENST00000403245 human ensembl 70_37 -1 known missense c.3889 p.E1297K 1.000 NULL NULL - no_errors KIAA1009 HGNC KIAA1377 57562 genome.wustl.edu 37 11 101818816 101818816 + Missense_Mutation SNP C C A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 11 101818816 101818816 C A SNP KIAA1377 ENST00000263468 human ensembl 70_37 +1 known missense c.449 p.S150Y 0.969 NULL NULL - no_errors KIAA1377 HGNC KIRREL 55243 genome.wustl.edu 37 1 158047909 158047909 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 158047909 158047909 C T SNP KIRREL ENST00000368173 human ensembl 70_37 +1 known missense c.331 p.R111W 0.974 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors KIRREL HGNC KLHL14 57565 genome.wustl.edu 37 18 30257279 30257279 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 18 30257279 30257279 C G SNP KLHL14 ENST00000359358 human ensembl 70_37 -1 known missense c.1603 p.D535H 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL14 HGNC KLHL4 56062 genome.wustl.edu 37 X 86772953 86772953 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 X 86772953 86772953 G C SNP KLHL4 ENST00000373114 human ensembl 70_37 +1 known missense c.57 p.W19C 1.000 NULL pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC KRT34 3885 genome.wustl.edu 37 17 39535335 39535335 + Nonsense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 39535335 39535335 G A SNP KRT34 ENST00000394001 human ensembl 70_37 -1 known nonsense c.1096 p.Q366* 0.970 pfam_F,prints_Keratin_I pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT34 HGNC KRT5 3852 genome.wustl.edu 37 12 52913666 52913666 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 12 52913666 52913666 C T SNP KRT5 ENST00000252242 human ensembl 70_37 -1 known missense c.415 p.G139S 0.866 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT5 HGNC LAS1L 81887 genome.wustl.edu 37 X 64741096 64741096 + RNA SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 X 64741096 64741096 G C SNP LAS1L ENST00000484069 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LAS1L HGNC LAS1L 81887 genome.wustl.edu 37 X 64741915 64741915 + RNA SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 X 64741915 64741915 G A SNP LAS1L ENST00000484069 human ensembl 70_37 -1 known rna NULL NULL 0.492 - - - no_errors LAS1L HGNC LCE2D 353141 genome.wustl.edu 37 1 152636743 152636743 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 152636743 152636743 C G SNP LCE2D ENST00000368784 human ensembl 70_37 +1 known missense c.162 p.S54R 0.592 NULL NULL - no_errors LCE2D HGNC LCT 3938 genome.wustl.edu 37 2 136564854 136564854 + Silent SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 2 136564854 136564854 G A SNP LCT ENST00000264162 human ensembl 70_37 -1 known silent c.4017 p.F1339 0.002 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC LHX6 26468 genome.wustl.edu 37 9 124979434 124979434 + Nonsense_Mutation SNP C C A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 124979434 124979434 C A SNP LHX6 ENST00000394319 human ensembl 70_37 -1 known nonsense c.595 p.E199* 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LHX6 HGNC LIG3 3980 genome.wustl.edu 37 17 33318059 33318059 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 33318059 33318059 G A SNP LIG3 ENST00000378526 human ensembl 70_37 +1 known missense c.967 p.D323N 1.000 pfam_DNA_ligase_ATP-dep_N,superfamily_DNA_ligase_ATP-dep_N,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC LINC00094 266655 genome.wustl.edu 37 9 136891828 136891828 + RNA SNP G G T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 136891828 136891828 G T SNP LINC00094 ENST00000430633 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00094 HGNC LINC00488 677779 genome.wustl.edu 37 3 108897102 108897102 + RNA SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 108897102 108897102 C G SNP LINC00488 ENST00000494582 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors LINC00488 HGNC LINGO1 84894 genome.wustl.edu 37 15 77906551 77906551 + Silent SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 15 77906551 77906551 G A SNP LINGO1 ENST00000355300 human ensembl 70_37 -1 known silent c.1698 p.I566 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LINGO1 HGNC LOC440993 440993 genome.wustl.edu 37 3 195395487 195395487 + RNA SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 195395487 195395487 C G SNP LOC440993 ENST00000414625 human ensembl 70_37 +1 known rna NULL NULL 0.988 - - - no_errors AC069513.3 Clone_based_vega_gene LRRC4 64101 genome.wustl.edu 37 7 127670470 127670470 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 127670470 127670470 G C SNP LRRC4 ENST00000249363 human ensembl 70_37 -1 known missense c.224 p.S75W 1.000 smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRC4 HGNC LY9 4063 genome.wustl.edu 37 1 160769448 160769448 + RNA SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 160769448 160769448 G A SNP LY9 ENST00000485624 human ensembl 70_37 +1 known rna NULL NULL 0.016 - - - no_errors LY9 HGNC MAGEC3 139081 genome.wustl.edu 37 X 140984784 140984784 + Missense_Mutation SNP A A T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 X 140984784 140984784 A T SNP MAGEC3 ENST00000298296 human ensembl 70_37 +1 known missense c.1240 p.S414C 0.021 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC MAML1 9794 genome.wustl.edu 37 5 179193509 179193509 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 5 179193509 179193509 C G SNP MAML1 ENST00000292599 human ensembl 70_37 +1 known missense c.1498 p.Q500E 0.997 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML1 HGNC MAP4 4134 genome.wustl.edu 37 3 47896844 47896844 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 47896844 47896844 C T SNP MAP4 ENST00000360240 human ensembl 70_37 -1 known missense c.3155 p.G1052E 1.000 pfam_Tau/MAP_tubulin-bd_rpt pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP4 HGNC MCOLN2 255231 genome.wustl.edu 37 1 85424280 85424280 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 85424280 85424280 C G SNP MCOLN2 ENST00000370608 human ensembl 70_37 -1 known missense c.343 p.D115H 1.000 NULL pfam_PKD1_2_channel - no_errors MCOLN2 HGNC MDC1 9656 genome.wustl.edu 37 6 30680935 30680935 + Nonsense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 30680935 30680935 G A SNP MDC1 ENST00000376406 human ensembl 70_37 -1 known nonsense c.784 p.Q262* 0.017 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC MELK 9833 genome.wustl.edu 37 9 36583688 36583688 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 36583688 36583688 C T SNP MELK ENST00000298048 human ensembl 70_37 +1 known silent c.123 p.I41 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MELK HGNC MGA 23269 genome.wustl.edu 37 15 41991294 41991294 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 15 41991294 41991294 G A SNP MGA ENST00000219905 human ensembl 70_37 +1 known missense c.2125 p.E709K 1.000 NULL pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC MGAM 8972 genome.wustl.edu 37 7 141752684 141752684 + Missense_Mutation SNP C C A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 141752684 141752684 C A SNP MGAM ENST00000549489 human ensembl 70_37 +1 known missense c.3059 p.S1020Y 0.082 superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC MGAT3 4248 genome.wustl.edu 37 22 39884875 39884875 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 22 39884875 39884875 C T SNP MGAT3 ENST00000341184 human ensembl 70_37 +1 known missense c.1523 p.T508M 0.062 NULL pfam_Glyco_trans_17 - no_errors MGAT3 HGNC KMT2D 8085 genome.wustl.edu 37 12 49426469 49426469 + Nonsense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 12 49426469 49426469 G A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known nonsense c.12019 p.Q4007* 0.954 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC KMT2C 58508 genome.wustl.edu 37 7 151848594 151848595 + Frame_Shift_Ins INS - - GA TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 151848594 151848595 - GA INS MLL3 ENST00000355193 human ensembl 70_37 -1 known frame_shift_ins c.12770_12769 p.H4257fs 1.000:1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC MMEL1 79258 genome.wustl.edu 37 1 2542727 2542727 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 2542727 2542727 C T SNP MMEL1 ENST00000378412 human ensembl 70_37 -1 known silent c.285 p.V95 0.995 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MMEL1 HGNC MPDZ 8777 genome.wustl.edu 37 9 13176300 13176300 + Missense_Mutation SNP A A T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 13176300 13176300 A T SNP MPDZ ENST00000319217 human ensembl 70_37 -1 known missense c.2766 p.S922R 0.000 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC MPHOSPH9 10198 genome.wustl.edu 37 12 123682868 123682868 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 12 123682868 123682868 C G SNP MPHOSPH9 ENST00000541076 human ensembl 70_37 -1 known missense c.1495 p.D499H 0.996 superfamily_Prefoldin superfamily_Prefoldin - no_errors MPHOSPH9 HGNC MSL3 10943 genome.wustl.edu 37 X 11776885 11776885 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 X 11776885 11776885 C G SNP MSL3 ENST00000398527 human ensembl 70_37 +1 known missense c.59 p.P20R 0.000 NULL pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors MSL3 HGNC MTHFD2L 441024 genome.wustl.edu 37 4 75147263 75147263 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 4 75147263 75147263 C T SNP MTHFD2L ENST00000395759 human ensembl 70_37 +1 known silent c.927 p.F309 1.000 pfam_THF_DH/CycHdrlase_NAD-bd_dom,prints_THF_DH/CycHdrlase pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD2L HGNC MTOR 2475 genome.wustl.edu 37 1 11181396 11181396 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 11181396 11181396 C T SNP MTOR ENST00000361445 human ensembl 70_37 -1 known silent c.6840 p.L2280 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC MUC2 4583 genome.wustl.edu 37 11 1095260 1095260 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 11 1095260 1095260 C G SNP MUC2 ENST00000441003 human ensembl 70_37 +1 known missense c.6080 p.S2027W 0.001 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC MUC4 4585 genome.wustl.edu 37 3 195513362 195513362 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 195513362 195513362 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.5089 p.L1697F 0.029 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC5B 727897 genome.wustl.edu 37 11 1261581 1261581 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 11 1261581 1261581 G A SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.3955 p.A1319T 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC MYH16 84176 genome.wustl.edu 37 7 98845316 98845316 + RNA SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 98845316 98845316 G A SNP MYH16 ENST00000453194 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors MYH16 HGNC MYH16 84176 genome.wustl.edu 37 7 98845346 98845346 + RNA SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 98845346 98845346 G A SNP MYH16 ENST00000453194 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MYH16 HGNC MYOCD 93649 genome.wustl.edu 37 17 12666834 12666834 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 12666834 12666834 C T SNP MYOCD ENST00000425538 human ensembl 70_37 +1 known missense c.2834 p.P945L 1.000 NULL pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd - no_errors MYOCD HGNC NACC2 138151 genome.wustl.edu 37 9 138903634 138903634 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 138903634 138903634 C T SNP NACC2 ENST00000277554 human ensembl 70_37 -1 known missense c.1492 p.E498K 0.992 NULL pfam_BTB_POZ,pfam_BEN_domain,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors NACC2 HGNC NBEAL2 23218 genome.wustl.edu 37 3 47030778 47030778 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 47030778 47030778 G A SNP NBEAL2 ENST00000450053 human ensembl 70_37 +1 known missense c.380 p.R127Q 0.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC NBPF20 100288142 genome.wustl.edu 37 1 148252786 148252786 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 148252786 148252786 C G SNP NBPF20 ENST00000369202 human ensembl 70_37 -1 known missense c.13566 p.K4522N 0.028 NULL pfam_NBPF_dom - no_errors NBPF20 HGNC NDC80 10403 genome.wustl.edu 37 18 2616517 2616517 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 18 2616517 2616517 G C SNP NDC80 ENST00000261597 human ensembl 70_37 +1 known missense c.1873 p.E625Q 0.974 NULL pfam_Kinetochore_Ndc80,superfamily_t-SNARE - no_errors NDC80 HGNC NDST4 64579 genome.wustl.edu 37 4 115898403 115898403 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 4 115898403 115898403 G A SNP NDST4 ENST00000264363 human ensembl 70_37 -1 known missense c.1006 p.R336C 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST4 HGNC NFATC3 4775 genome.wustl.edu 37 16 68248234 68248234 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 16 68248234 68248234 C G SNP NFATC3 ENST00000329524 human ensembl 70_37 +1 known missense c.3109 p.Q1037E 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC3 HGNC NFE2L3 9603 genome.wustl.edu 37 7 26225031 26225031 + Silent SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 26225031 26225031 G C SNP NFE2L3 ENST00000056233 human ensembl 70_37 +1 known silent c.1713 p.L571 1.000 pfam_bZIP_Maf,superfamily_Euk_TF_DNA-bd pfam_bZIP,pfam_bZIP_Maf,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L3 HGNC NFYA 4800 genome.wustl.edu 37 6 41060767 41060767 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 41060767 41060767 G C SNP NFYA ENST00000341376 human ensembl 70_37 +1 known missense c.831 p.K277N 1.000 pfam_TF_CBFB,smart_TF_CBFB,pfscan_TF_CBFB,prints_TF_CBFB pfam_TF_CBFB,smart_TF_CBFB,pfscan_TF_CBFB,prints_TF_CBFB - no_errors NFYA HGNC NIPSNAP1 8508 genome.wustl.edu 37 22 29956727 29956727 + Silent SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 22 29956727 29956727 G C SNP NIPSNAP1 ENST00000216121 human ensembl 70_37 -1 known silent c.702 p.L234 0.994 pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel - no_errors NIPSNAP1 HGNC NIPSNAP1 8508 genome.wustl.edu 37 22 29956745 29956745 + Silent SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 22 29956745 29956745 G C SNP NIPSNAP1 ENST00000216121 human ensembl 70_37 -1 known silent c.684 p.L228 0.996 pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel - no_errors NIPSNAP1 HGNC NLRP9 338321 genome.wustl.edu 37 19 56220299 56220299 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 19 56220299 56220299 C T SNP NLRP9 ENST00000332836 human ensembl 70_37 -1 known silent c.2955 p.K985 0.002 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC NME7 29922 genome.wustl.edu 37 1 169292499 169292499 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 169292499 169292499 G C SNP NME7 ENST00000367811 human ensembl 70_37 -1 known missense c.134 p.T45S 0.003 smart_Uncharacterised_DM10,pirsf_NDK7 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Uncharacterised_DM10,smart_Nucleoside_diP_kinase,pirsf_NDK7,prints_Nucleoside_diP_kinase - no_errors NME7 HGNC NOTCH3 4854 genome.wustl.edu 37 19 15291846 15291846 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 19 15291846 15291846 C T SNP NOTCH3 ENST00000263388 human ensembl 70_37 -1 known missense c.2920 p.G974R 1.000 smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom - no_errors NOTCH3 HGNC NPDC1 56654 genome.wustl.edu 37 9 139937556 139937556 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 139937556 139937556 C T SNP NPDC1 ENST00000371600 human ensembl 70_37 -1 known missense c.316 p.E106K 0.012 NULL pfam_NPDC1 - no_errors NPDC1 HGNC NPHP4 261734 genome.wustl.edu 37 1 5937269 5937269 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 5937269 5937269 G A SNP NPHP4 ENST00000378156 human ensembl 70_37 -1 known missense c.2701 p.P901S 0.009 NULL NULL - no_errors NPHP4 HGNC NRP2 8828 genome.wustl.edu 37 2 206565458 206565458 + RNA SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 2 206565458 206565458 C T SNP NRP2 ENST00000464003 human ensembl 70_37 +1 known rna NULL NULL 0.618 - - - no_errors NRP2 HGNC NUDT16L1 84309 genome.wustl.edu 37 16 4745112 4745112 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 16 4745112 4745112 G A SNP NUDT16L1 ENST00000304301 human ensembl 70_37 +1 known missense c.568 p.E190K 1.000 superfamily_NUDIX_hydrolase_dom-like superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT16L1 HGNC OGFR 11054 genome.wustl.edu 37 20 61444515 61444515 + Silent SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 20 61444515 61444515 G A SNP OGFR ENST00000290291 human ensembl 70_37 +1 known silent c.1548 p.G516 0.506 NULL pfam_OGF_rcpt,pfam_OGF_rcpt_rpt - no_errors OGFR HGNC OR13C9 286362 genome.wustl.edu 37 9 107380216 107380216 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 107380216 107380216 C G SNP OR13C9 ENST00000259362 human ensembl 70_37 -1 known missense c.270 p.K90N 0.946 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C9 HGNC OR2AE1 81392 genome.wustl.edu 37 7 99474453 99474453 + Silent SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 99474453 99474453 G C SNP OR2AE1 ENST00000316368 human ensembl 70_37 -1 known silent c.204 p.L68 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AE1 HGNC OR2AE1 81392 genome.wustl.edu 37 7 99474518 99474518 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 99474518 99474518 G C SNP OR2AE1 ENST00000316368 human ensembl 70_37 -1 known missense c.139 p.L47V 0.090 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AE1 HGNC OR2T10 127069 genome.wustl.edu 37 1 248756633 248756633 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 248756633 248756633 G A SNP OR2T10 ENST00000330500 human ensembl 70_37 -1 known missense c.437 p.S146L 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T10 HGNC OR5T3 390154 genome.wustl.edu 37 11 56020507 56020507 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 11 56020507 56020507 G A SNP OR5T3 ENST00000303059 human ensembl 70_37 +1 known missense c.832 p.V278M 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T3 HGNC OR7G1 125962 genome.wustl.edu 37 19 9225957 9225957 + Silent SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 19 9225957 9225957 C G SNP OR7G1 ENST00000293614 human ensembl 70_37 -1 known silent c.483 p.L161 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7G1 HGNC PALM3 342979 genome.wustl.edu 37 19 14165745 14165745 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 19 14165745 14165745 C T SNP PALM3 ENST00000340790 human ensembl 70_37 -1 known missense c.694 p.A232T 0.571 NULL NULL - no_errors PALM3 HGNC PBX2P1 5088 genome.wustl.edu 37 3 142897134 142897136 + RNA DEL TTT TTT - TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 142897134 142897136 TTT - DEL PBX2P1 ENST00000560287 human ensembl 70_37 +1 known rna NULL NULL 0.986:0.988:0.989 - - - no_errors PBX2P1 HGNC PCCA 5095 genome.wustl.edu 37 13 100953745 100953745 + Missense_Mutation SNP G G T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 13 100953745 100953745 G T SNP PCCA ENST00000376285 human ensembl 70_37 +1 known missense c.1097 p.G366V 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_RimK-type,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl - no_errors PCCA HGNC PCDHAC1 56135 genome.wustl.edu 37 5 140308552 140308552 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 5 140308552 140308552 C G SNP PCDHAC1 ENST00000253807 human ensembl 70_37 +1 known missense c.2075 p.S692C 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC PCDHGA4 56111 genome.wustl.edu 37 5 140736303 140736303 + Silent SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 5 140736303 140736303 G A SNP PCDHGA4 ENST00000571252 human ensembl 70_37 +1 known silent c.1536 p.G512 0.073 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA4 HGNC PCNT 5116 genome.wustl.edu 37 21 47851644 47851644 + Nonsense_Mutation SNP G G T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 21 47851644 47851644 G T SNP PCNT ENST00000359568 human ensembl 70_37 +1 known nonsense c.8266 p.E2756* 0.994 NULL pfam_PACT_domain - no_errors PCNT HGNC PDX1 3651 genome.wustl.edu 37 13 28498509 28498509 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 13 28498509 28498509 C T SNP PDX1 ENST00000381033 human ensembl 70_37 +1 known missense c.523 p.R175C 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors PDX1 HGNC PEX11A 8800 genome.wustl.edu 37 15 90233993 90233993 + RNA SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 15 90233993 90233993 G C SNP PEX11A ENST00000557982 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PEX11A HGNC PEX6 5190 genome.wustl.edu 37 6 42935173 42935173 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 42935173 42935173 C T SNP PEX6 ENST00000304611 human ensembl 70_37 -1 known missense c.1817 p.R606Q 0.216 NULL pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors PEX6 HGNC PFAS 5198 genome.wustl.edu 37 17 8159596 8159596 + Missense_Mutation SNP G G T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 8159596 8159596 G T SNP PFAS ENST00000314666 human ensembl 70_37 +1 known missense c.692 p.R231L 1.000 tigrfam_PRibForGlyAmidine_synth pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth - no_errors PFAS HGNC PGRMC1 10857 genome.wustl.edu 37 X 118370404 118370404 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 X 118370404 118370404 C T SNP PGRMC1 ENST00000217971 human ensembl 70_37 +1 known silent c.78 p.F26 1.000 NULL pfam_Cyt_B5,superfamily_Cyt_B5 - no_errors PGRMC1 HGNC PGRMC1 10857 genome.wustl.edu 37 X 118370416 118370416 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 X 118370416 118370416 C T SNP PGRMC1 ENST00000217971 human ensembl 70_37 +1 known silent c.90 p.L30 1.000 NULL pfam_Cyt_B5,superfamily_Cyt_B5 - no_errors PGRMC1 HGNC PHF1 5252 genome.wustl.edu 37 6 33383743 33383743 + Silent SNP G G T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 33383743 33383743 G T SNP PHF1 ENST00000374516 human ensembl 70_37 +1 known silent c.1572 p.G524 0.999 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF1 HGNC PIK3R3 8503 genome.wustl.edu 37 1 46509193 46509193 + RNA SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 46509193 46509193 C T SNP PIK3R3 ENST00000488808 human ensembl 70_37 -1 known rna NULL NULL 0.023 - - - no_errors PIK3R3 HGNC PITRM1 10531 genome.wustl.edu 37 10 3180157 3180157 + RNA SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 10 3180157 3180157 G A SNP PITRM1 ENST00000464395 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PITRM1 HGNC PITRM1 10531 genome.wustl.edu 37 10 3180552 3180552 + RNA SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 10 3180552 3180552 G A SNP PITRM1 ENST00000490510 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PITRM1 HGNC PKP1 5317 genome.wustl.edu 37 1 201282404 201282404 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 201282404 201282404 C T SNP PKP1 ENST00000263946 human ensembl 70_37 +1 known silent c.417 p.G139 0.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP1 HGNC PLCB1 23236 genome.wustl.edu 37 20 8755253 8755253 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 20 8755253 8755253 G A SNP PLCB1 ENST00000338037 human ensembl 70_37 +1 known missense c.2998 p.E1000K 0.998 pirsf_PLC-beta,pfam_PLC-beta_C pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC PLEKHA3 65977 genome.wustl.edu 37 2 179346649 179346649 + RNA SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 2 179346649 179346649 C T SNP PLEKHA3 ENST00000461474 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors PLEKHA3 HGNC PLEKHA6 22874 genome.wustl.edu 37 1 204197977 204197977 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 204197977 204197977 C G SNP PLEKHA6 ENST00000272203 human ensembl 70_37 -1 known missense c.2764 p.D922H 0.998 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC PMPCA 23203 genome.wustl.edu 37 9 139311359 139311359 + RNA SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 139311359 139311359 C T SNP PMPCA ENST00000462616 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PMPCA HGNC PNISR 25957 genome.wustl.edu 37 6 99849308 99849308 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 99849308 99849308 C G SNP PNISR ENST00000369239 human ensembl 70_37 -1 known missense c.1526 p.R509T 1.000 NULL NULL - no_errors PNISR HGNC POGLUT1 56983 genome.wustl.edu 37 3 119196263 119196263 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 119196263 119196263 G C SNP POGLUT1 ENST00000295588 human ensembl 70_37 +1 known missense c.424 p.E142Q 1.000 pfam_LipoPS_modifying,smart_LipoPS_modifying pfam_LipoPS_modifying,smart_LipoPS_modifying - no_errors POGLUT1 HGNC POLD3 10714 genome.wustl.edu 37 11 74329661 74329661 + Missense_Mutation SNP T T C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 11 74329661 74329661 T C SNP POLD3 ENST00000263681 human ensembl 70_37 +1 known missense c.472 p.S158P 0.000 pfam_DNA_polymerase_subunit_Cdc27 pfam_DNA_polymerase_subunit_Cdc27 - no_errors POLD3 HGNC POU4F3 5459 genome.wustl.edu 37 5 145719265 145719265 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 5 145719265 145719265 C T SNP POU4F3 ENST00000230732 human ensembl 70_37 +1 known missense c.275 p.S92L 1.000 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU4F3 HGNC PPAP2B 8613 genome.wustl.edu 37 1 57044973 57044973 + RNA SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 57044973 57044973 G C SNP PPAP2B ENST00000476206 human ensembl 70_37 -1 known rna NULL NULL 0.016 - - - no_errors PPAP2B HGNC PPP1R13B 23368 genome.wustl.edu 37 14 104224057 104224057 + Nonsense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 14 104224057 104224057 G C SNP PPP1R13B ENST00000202556 human ensembl 70_37 -1 known nonsense c.386 p.S129* 1.000 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13B HGNC PPP1R9B 84687 genome.wustl.edu 37 17 48211892 48211892 + RNA SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 48211892 48211892 G C SNP PPP1R9B ENST00000316878 human ensembl 70_37 -1 known rna NULL NULL 0.692 - - - no_errors PPP1R9B HGNC PPP1R9B 84687 genome.wustl.edu 37 17 48211941 48211941 + RNA SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 48211941 48211941 G C SNP PPP1R9B ENST00000316878 human ensembl 70_37 -1 known rna NULL NULL 0.892 - - - no_errors PPP1R9B HGNC PRMT2 3275 genome.wustl.edu 37 21 48063477 48063477 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 21 48063477 48063477 G A SNP PRMT2 ENST00000355680 human ensembl 70_37 +1 known missense c.70 p.G24S 0.000 superfamily_SH3_domain 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 PROKR2 128674 genome.wustl.edu 37 20 5294986 5294986 + Silent SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 20 5294986 5294986 G A SNP PROKR2 ENST00000217270 human ensembl 70_37 -1 known silent c.30 p.F10 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR2 HGNC PRR14L 253143 genome.wustl.edu 37 22 32108390 32108390 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 22 32108390 32108390 C G SNP PRR14L ENST00000397493 human ensembl 70_37 -1 known missense c.5435 p.R1812T 1.000 NULL NULL - no_errors PRR14L HGNC PRRC2A 7916 genome.wustl.edu 37 6 31595578 31595578 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 31595578 31595578 G A SNP PRRC2A ENST00000376007 human ensembl 70_37 +1 known missense c.1327 p.E443K 0.999 NULL pfam_BAT2_N - no_errors PRRC2A HGNC PRRC2A 7916 genome.wustl.edu 37 6 31595770 31595770 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 31595770 31595770 G C SNP PRRC2A ENST00000376007 human ensembl 70_37 +1 known missense c.1519 p.E507Q 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC PSEN2 5664 genome.wustl.edu 37 1 227079026 227079026 + Nonsense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 227079026 227079026 C T SNP PSEN2 ENST00000391872 human ensembl 70_37 +1 known nonsense c.1033 p.Q345* 0.711 smart_Peptidase_A22,prints_Pept_A22A_PS2 pfam_Peptidase_A22A,smart_Peptidase_A22,prints_Pept_A22A_PS2,prints_Peptidase_A22A - no_errors PSEN2 HGNC PTCHD1 139411 genome.wustl.edu 37 X 23411550 23411550 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 X 23411550 23411550 G A SNP PTCHD1 ENST00000379361 human ensembl 70_37 +1 known missense c.1915 p.E639K 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC PTEN 5728 genome.wustl.edu 37 10 89693162 89693162 + RNA SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 10 89693162 89693162 G C SNP PTEN ENST00000498703 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PTEN HGNC PTEN 5728 genome.wustl.edu 37 10 89717729 89717729 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 10 89717729 89717729 G A SNP PTEN ENST00000371953 human ensembl 70_37 +1 known missense c.754 p.D252N 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC PTEN 5728 genome.wustl.edu 37 10 89720783 89720783 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 10 89720783 89720783 G A SNP PTEN ENST00000371953 human ensembl 70_37 +1 known missense c.934 p.D312N 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC PTPRH 5794 genome.wustl.edu 37 19 55713638 55713638 + Silent SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 19 55713638 55713638 G A SNP PTPRH ENST00000376350 human ensembl 70_37 -1 known silent c.939 p.I313 0.905 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRH HGNC RFNG 5986 genome.wustl.edu 37 17 80008563 80008563 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 17 80008563 80008563 C T SNP RFNG ENST00000310496 human ensembl 70_37 -1 known missense c.394 p.D132N 1.000 pfam_Fringe-like,pirsf_Fringe pfam_Fringe-like,pirsf_Fringe - no_errors RFNG HGNC RFTN1 23180 genome.wustl.edu 37 3 16419401 16419401 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 16419401 16419401 C T SNP RFTN1 ENST00000334133 human ensembl 70_37 -1 known missense c.650 p.R217K 0.000 NULL NULL - no_errors RFTN1 HGNC RHBDF1 64285 genome.wustl.edu 37 16 109765 109765 + Silent SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 16 109765 109765 G A SNP RHBDF1 ENST00000262316 human ensembl 70_37 -1 known silent c.1782 p.I594 1.000 NULL pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF1 HGNC RHPN2 85415 genome.wustl.edu 37 19 33490562 33490562 + Silent SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 19 33490562 33490562 G C SNP RHPN2 ENST00000254260 human ensembl 70_37 -1 known silent c.1155 p.L385 1.000 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom - no_errors RHPN2 HGNC RLTPR 146206 genome.wustl.edu 37 16 67683738 67683738 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 16 67683738 67683738 C T SNP RLTPR ENST00000334583 human ensembl 70_37 +1 known missense c.1949 p.S650F 0.998 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC RNF111 54778 genome.wustl.edu 37 15 59373346 59373346 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 15 59373346 59373346 C G SNP RNF111 ENST00000434298 human ensembl 70_37 +1 known missense c.2160 p.I720M 0.995 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC RPA2 6118 genome.wustl.edu 37 1 28240755 28240755 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 28240755 28240755 C T SNP RPA2 ENST00000313433 human ensembl 70_37 -1 known missense c.200 p.R67Q 0.001 NULL pfam_RPA_C,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like - no_errors RPA2 HGNC RRP9 9136 genome.wustl.edu 37 3 51970552 51970552 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 51970552 51970552 C T SNP RRP9 ENST00000232888 human ensembl 70_37 -1 known silent c.537 p.R179 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RRP9 HGNC RSPH4A 345895 genome.wustl.edu 37 6 116943980 116943980 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 116943980 116943980 G A SNP RSPH4A ENST00000229554 human ensembl 70_37 +1 known missense c.736 p.E246K 1.000 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH4A HGNC RTN1 6252 genome.wustl.edu 37 14 60212537 60212537 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 14 60212537 60212537 C T SNP RTN1 ENST00000267484 human ensembl 70_37 -1 known missense c.904 p.E302K 0.899 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC S100PBP 64766 genome.wustl.edu 37 1 33291767 33291767 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 33291767 33291767 C G SNP S100PBP ENST00000373475 human ensembl 70_37 +1 known missense c.67 p.P23A 0.480 NULL NULL - no_errors S100PBP HGNC SAMM50 25813 genome.wustl.edu 37 22 44372002 44372002 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 22 44372002 44372002 C T SNP SAMM50 ENST00000350028 human ensembl 70_37 +1 known missense c.716 p.S239L 0.771 pfam_Bac_surfAg_D15 pfam_Bac_surfAg_D15 - no_errors SAMM50 HGNC SCAI 286205 genome.wustl.edu 37 9 127765467 127765467 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 127765467 127765467 C G SNP SCAI ENST00000373549 human ensembl 70_37 -1 known missense c.1060 p.E354Q 1.000 pfam_DUF3550,pirsf_UCP013022 pfam_DUF3550,pirsf_UCP013022 - no_errors SCAI HGNC SEC24D 9871 genome.wustl.edu 37 4 119653979 119653979 + Nonsense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 4 119653979 119653979 G C SNP SEC24D ENST00000379735 human ensembl 70_37 -1 known nonsense c.2588 p.S863* 0.997 pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24D HGNC SERPINA4 5267 genome.wustl.edu 37 14 95030000 95030000 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 14 95030000 95030000 C T SNP SERPINA4 ENST00000298841 human ensembl 70_37 +1 known missense c.181 p.R61C 0.002 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA4 HGNC SIPA1L2 57568 genome.wustl.edu 37 1 232534989 232534989 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 232534989 232534989 C T SNP SIPA1L2 ENST00000262861 human ensembl 70_37 -1 known missense c.5053 p.E1685K 0.913 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L2 HGNC SIRPD 128646 genome.wustl.edu 37 20 1532404 1532404 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 20 1532404 1532404 C T SNP SIRPD ENST00000381621 human ensembl 70_37 -1 known silent c.354 p.V118 0.996 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors SIRPD HGNC SLC26A6 65010 genome.wustl.edu 37 3 48663652 48663652 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 48663652 48663652 G A SNP SLC26A6 ENST00000395550 human ensembl 70_37 -1 known missense c.2264 p.S755L 0.001 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A6 HGNC SLC38A5 92745 genome.wustl.edu 37 X 48324406 48324406 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 X 48324406 48324406 C T SNP SLC38A5 ENST00000317669 human ensembl 70_37 -1 known missense c.487 p.E163K 0.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A5 HGNC SLC4A11 83959 genome.wustl.edu 37 20 3211114 3211114 + RNA SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 20 3211114 3211114 G A SNP SLC4A11 ENST00000470631 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC4A11 HGNC SLC6A9 6536 genome.wustl.edu 37 1 44466890 44466890 + Silent SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 44466890 44466890 C G SNP SLC6A9 ENST00000360584 human ensembl 70_37 -1 known silent c.1500 p.V500 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1 - no_errors SLC6A9 HGNC SLC7A8 23428 genome.wustl.edu 37 14 23624564 23624564 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 14 23624564 23624564 C T SNP SLC7A8 ENST00000529705 human ensembl 70_37 -1 putative missense c.4 p.G2R 0.002 NULL pfam_AA-permease_dom,pirsf_AA/rel_permease1 - no_errors SLC7A8 HGNC SMC4 10051 genome.wustl.edu 37 3 160117444 160117444 + RNA SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 160117444 160117444 G C SNP SMC4 ENST00000472282 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SMC4 HGNC SOCS2 8835 genome.wustl.edu 37 12 93968591 93968591 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 12 93968591 93968591 C T SNP SOCS2 ENST00000340600 human ensembl 70_37 +1 known missense c.233 p.S78L 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2,prints_SH2 - no_errors SOCS2 HGNC SORT1 6272 genome.wustl.edu 37 1 109870156 109870156 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 109870156 109870156 G A SNP SORT1 ENST00000256637 human ensembl 70_37 -1 known missense c.1439 p.S480L 0.943 smart_VPS10 pfam_BNR_rpt,smart_VPS10 - no_errors SORT1 HGNC SPATA6 54558 genome.wustl.edu 37 1 48918758 48918758 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 48918758 48918758 G A SNP SPATA6 ENST00000371847 human ensembl 70_37 -1 known missense c.97 p.L33F 1.000 NULL NULL - no_errors SPATA6 HGNC SPTB 6710 genome.wustl.edu 37 14 65242109 65242109 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 14 65242109 65242109 C G SNP SPTB ENST00000389722 human ensembl 70_37 -1 known missense c.4576 p.E1526Q 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC STAMBPL1 57559 genome.wustl.edu 37 10 90733069 90733069 + Nonstop_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 10 90733069 90733069 G C SNP STAMBPL1 ENST00000371927 human ensembl 70_37 +1 known nonstop c.1385 p.*462S 0.001 NULL pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors STAMBPL1 HGNC STK38 11329 genome.wustl.edu 37 6 36483145 36483145 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 36483145 36483145 G C SNP STK38 ENST00000229812 human ensembl 70_37 -1 known missense c.639 p.I213M 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors STK38 HGNC STXBP2 6813 genome.wustl.edu 37 19 7709550 7709550 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 19 7709550 7709550 G A SNP STXBP2 ENST00000221283 human ensembl 70_37 +1 known missense c.1158 p.M386I 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP2 HGNC SYNE2 23224 genome.wustl.edu 37 14 64468776 64468776 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 14 64468776 64468776 G C SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.3763 p.D1255H 0.636 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC TARBP1 6894 genome.wustl.edu 37 1 234527332 234527332 + Silent SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 234527332 234527332 G C SNP TARBP1 ENST00000040877 human ensembl 70_37 -1 known silent c.4857 p.T1619 0.000 NULL pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC TCEAL1 9338 genome.wustl.edu 37 X 102884879 102884879 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 X 102884879 102884879 C T SNP TCEAL1 ENST00000372624 human ensembl 70_37 +1 known missense c.35 p.P12L 0.018 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL1 HGNC TEK 7010 genome.wustl.edu 37 9 27109601 27109601 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 27109601 27109601 G A SNP TEK ENST00000380036 human ensembl 70_37 +1 known missense c.13 p.A5T 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC TEX11 56159 genome.wustl.edu 37 X 70073170 70073170 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 X 70073170 70073170 C T SNP TEX11 ENST00000344304 human ensembl 70_37 -1 known missense c.378 p.M126I 0.989 NULL pfam_Meiosis_specific_SPO22,smart_TPR_repeat - no_errors TEX11 HGNC TG 7038 genome.wustl.edu 37 8 133899234 133899234 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 8 133899234 133899234 G C SNP TG ENST00000220616 human ensembl 70_37 +1 known missense c.1617 p.K539N 0.001 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC TIMMDC1 51300 genome.wustl.edu 37 3 119242575 119242575 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 119242575 119242575 C T SNP TIMMDC1 ENST00000494664 human ensembl 70_37 +1 known missense c.830 p.S277L 0.881 NULL pfam_Tim17/Tim22/Tim23/PMP24 - no_errors TIMMDC1 HGNC TJP2 9414 genome.wustl.edu 37 9 71789346 71789346 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 71789346 71789346 C T SNP TJP2 ENST00000377245 human ensembl 70_37 +1 known missense c.58 p.R20C 0.842 superfamily_PDZ pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC TMEM115 11070 genome.wustl.edu 37 3 50395801 50395801 + Frame_Shift_Del DEL G G - TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 50395801 50395801 G - DEL TMEM115 ENST00000266025 human ensembl 70_37 -1 known frame_shift_del c.694 p.L232fs 1.000 NULL pfam_DUF1751_Mem_euk - no_errors TMEM115 HGNC TMEM191A 84222 genome.wustl.edu 37 22 21058272 21058272 + RNA SNP C C A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 22 21058272 21058272 C A SNP TMEM191A ENST00000419950 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TMEM191A HGNC TMEM211 255349 genome.wustl.edu 37 22 25331426 25331426 + Silent SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 22 25331426 25331426 G C SNP TMEM211 ENST00000423535 human ensembl 70_37 -1 known silent c.477 p.L159 0.528 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors TMEM211 HGNC TMEM213 155006 genome.wustl.edu 37 7 138482803 138482803 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 7 138482803 138482803 C T SNP TMEM213 ENST00000422794 human ensembl 70_37 +1 known missense c.107 p.S36F 0.000 NULL NULL - no_errors TMEM213 HGNC TMOD3 29766 genome.wustl.edu 37 15 52239400 52239400 + RNA SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 15 52239400 52239400 G C SNP TMOD3 ENST00000558300 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors TMOD3 HGNC TNFAIP8 25816 genome.wustl.edu 37 5 118728573 118728573 + Frame_Shift_Del DEL A A - TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 5 118728573 118728573 A - DEL TNFAIP8 ENST00000504771 human ensembl 70_37 +1 known frame_shift_del c.94 p.M33fs 1.000 pfam_DUF758 pfam_DUF758 - no_errors TNFAIP8 HGNC TOMM40L 84134 genome.wustl.edu 37 1 161197766 161197766 + Silent SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 161197766 161197766 G A SNP TOMM40L ENST00000367987 human ensembl 70_37 +1 known silent c.471 p.L157 1.000 pfam_Porin_Euk pfam_Porin_Euk - no_errors TOMM40L HGNC TOPBP1 11073 genome.wustl.edu 37 3 133347256 133347256 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 133347256 133347256 C T SNP TOPBP1 ENST00000260810 human ensembl 70_37 -1 known silent c.2754 p.K918 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC TOPORS 10210 genome.wustl.edu 37 9 32542823 32542823 + Nonsense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 32542823 32542823 G C SNP TOPORS ENST00000360538 human ensembl 70_37 -1 known nonsense c.1700 p.S567* 0.958 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors TOPORS HGNC TRABD2A 129293 genome.wustl.edu 37 2 85051106 85051106 + Silent SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 2 85051106 85051106 G A SNP TRABD2A ENST00000409520 human ensembl 70_37 -1 known silent c.1305 p.F435 0.000 NULL NULL - no_errors TRABD2A HGNC TRABD2B 388630 genome.wustl.edu 37 1 48240993 48240993 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 48240993 48240993 C T SNP TRABD2B ENST00000371865 human ensembl 70_37 -1 known missense c.1198 p.D400N 1.000 NULL superfamily_SuperAg_toxin_C_Staph/Strep - no_errors TRABD2B HGNC TRAF2 7186 genome.wustl.edu 37 9 139804386 139804386 + Silent SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 139804386 139804386 C T SNP TRAF2 ENST00000359662 human ensembl 70_37 +1 known silent c.699 p.V233 1.000 pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_TRAF pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF2 HGNC TRAF2 7186 genome.wustl.edu 37 9 139804464 139804464 + RNA SNP C C A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 139804464 139804464 C A SNP TRAF2 ENST00000474950 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TRAF2 HGNC TRAFD1 10906 genome.wustl.edu 37 12 112585930 112585930 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 12 112585930 112585930 C G SNP TRAFD1 ENST00000257604 human ensembl 70_37 +1 known missense c.980 p.S327C 0.371 NULL superfamily_TRAF-like - no_errors TRAFD1 HGNC TRERF1 55809 genome.wustl.edu 37 6 42232541 42232541 + Silent SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 6 42232541 42232541 C G SNP TRERF1 ENST00000541110 human ensembl 70_37 -1 known silent c.1536 p.L512 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC TRPM6 140803 genome.wustl.edu 37 9 77339658 77339658 + Missense_Mutation SNP T T G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 77339658 77339658 T G SNP TRPM6 ENST00000451710 human ensembl 70_37 -1 known missense c.5952 p.L1984F 0.999 superfamily_Kinase-like_dom,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC TTC30B 150737 genome.wustl.edu 37 2 178415583 178415583 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 2 178415583 178415583 C G SNP TTC30B ENST00000408939 human ensembl 70_37 -1 known missense c.1909 p.E637Q 0.998 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30B HGNC TTLL10-AS1 100506376 genome.wustl.edu 37 1 1111181 1111181 + RNA SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 1 1111181 1111181 G C SNP TTLL10-AS1 ENST00000379317 human ensembl 70_37 -1 known rna NULL NULL 0.110 - - - no_errors TTLL10-AS1 HGNC TTLL13 440307 genome.wustl.edu 37 15 90802006 90802006 + Nonsense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 15 90802006 90802006 C G SNP TTLL13 ENST00000438251 human ensembl 70_37 +1 known nonsense c.1199 p.S400* 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL13 HGNC TTN 7273 genome.wustl.edu 37 2 179395192 179395192 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 2 179395192 179395192 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.98446 p.E32816K 0.979 superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_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_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179395466 179395466 + Silent SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 2 179395466 179395466 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.98172 p.L32724 0.272 superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_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_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179585135 179585135 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 2 179585135 179585135 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.19622 p.C6541Y 0.999 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_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_cat_dom,pfscan_Ig-like - no_errors TTN HGNC UACA 55075 genome.wustl.edu 37 15 70952492 70952492 + Missense_Mutation SNP G G T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 15 70952492 70952492 G T SNP UACA ENST00000322954 human ensembl 70_37 -1 known missense c.4177 p.Q1393K 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC UNC80 285175 genome.wustl.edu 37 2 210682667 210682667 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 2 210682667 210682667 G A SNP UNC80 ENST00000439458 human ensembl 70_37 +1 known missense c.1684 p.V562I 0.154 NULL NULL - no_errors UNC80 HGNC USP34 9736 genome.wustl.edu 37 2 61493167 61493167 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 2 61493167 61493167 C T SNP USP34 ENST00000398571 human ensembl 70_37 -1 known missense c.5569 p.E1857K 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP34 HGNC VAV2 7410 genome.wustl.edu 37 9 136857230 136857230 + Silent SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 136857230 136857230 G C SNP VAV2 ENST00000371850 human ensembl 70_37 -1 known silent c.171 p.L57 1.000 pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain - no_errors VAV2 HGNC VAV2 7410 genome.wustl.edu 37 9 136857321 136857321 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 136857321 136857321 G C SNP VAV2 ENST00000371850 human ensembl 70_37 -1 known missense c.80 p.S27W 1.000 pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain - no_errors VAV2 HGNC WDR96 80217 genome.wustl.edu 37 10 105893321 105893321 + RNA SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 10 105893321 105893321 G A SNP WDR96 ENST00000479392 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors WDR96 HGNC WFDC1 58189 genome.wustl.edu 37 16 84353120 84353120 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 16 84353120 84353120 G A SNP WFDC1 ENST00000219454 human ensembl 70_37 +1 known missense c.505 p.D169N 0.827 NULL pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core - no_errors WFDC1 HGNC WNT5B 81029 genome.wustl.edu 37 12 1741900 1741900 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 12 1741900 1741900 G A SNP WNT5B ENST00000310594 human ensembl 70_37 +1 known missense c.157 p.G53R 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT5B HGNC XPC 7508 genome.wustl.edu 37 3 14199944 14199944 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 3 14199944 14199944 G A SNP XPC ENST00000285021 human ensembl 70_37 -1 known missense c.1439 p.S480F 0.414 tigrfam_DNA_repair_Rad4_subgr pfam_Rad4/PNGase_transGLS-fold,pfam_Rad4_beta-hairpin_dom3,pfam_Rad4_beta-hairpin_dom2,pfam_Rad4_beta-hairpin_dom1,tigrfam_DNA_repair_Rad4_subgr - no_errors XPC HGNC ZFHX4 79776 genome.wustl.edu 37 8 77764826 77764826 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 8 77764826 77764826 C G SNP ZFHX4 ENST00000521891 human ensembl 70_37 +1 known missense c.5669 p.S1890C 0.837 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ZNF169 169841 genome.wustl.edu 37 9 97055557 97055557 + RNA SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 9 97055557 97055557 C G SNP ZNF169 ENST00000481550 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors ZNF169 HGNC ZNF280A 129025 genome.wustl.edu 37 22 22868784 22868784 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 22 22868784 22868784 C T SNP ZNF280A ENST00000302097 human ensembl 70_37 -1 known missense c.1171 p.E391K 0.936 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280A HGNC ZNF423 23090 genome.wustl.edu 37 16 49672168 49672168 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 16 49672168 49672168 G C SNP ZNF423 ENST00000262383 human ensembl 70_37 -1 known missense c.895 p.H299D 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ZNF556 80032 genome.wustl.edu 37 19 2877608 2877608 + Missense_Mutation SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 19 2877608 2877608 C G SNP ZNF556 ENST00000307635 human ensembl 70_37 +1 known missense c.652 p.L218V 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF556 HGNC ZNF613 79898 genome.wustl.edu 37 19 52448073 52448073 + Missense_Mutation SNP G G A TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 19 52448073 52448073 G A SNP ZNF613 ENST00000293471 human ensembl 70_37 +1 known missense c.937 p.E313K 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF613 HGNC ZNF839 55778 genome.wustl.edu 37 14 102802038 102802038 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 14 102802038 102802038 C T SNP ZNF839 ENST00000442396 human ensembl 70_37 +1 known missense c.1522 p.H508Y 0.000 NULL pfscan_Znf_C2H2 - no_errors ZNF839 HGNC ZSCAN22 342945 genome.wustl.edu 37 19 58850077 58850077 + Missense_Mutation SNP G G C TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq db76d80c-fc42-4c87-a81a-b24328659356 4899ab66-79f9-45d7-8334-ac9137cecb72 19 58850077 58850077 G C SNP ZSCAN22 ENST00000329665 human ensembl 70_37 +1 known missense c.861 p.Q287H 0.643 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN22 HGNC