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 A2ML1 144568 genome.wustl.edu 37 12 8997932 8997932 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 8997932 8997932 G A SNP A2ML1 ENST00000540049 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors A2ML1 HGNC ABCG5 64240 genome.wustl.edu 37 2 44051360 44051360 + Silent SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 2 44051360 44051360 C A SNP ABCG5 ENST00000260645 human ensembl 70_37 -1 known silent c.1116 p.L372 0.996 pfam_ABC_2_trans pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG5 HGNC ACSM1 116285 genome.wustl.edu 37 16 20682933 20682933 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 20682933 20682933 G A SNP ACSM1 ENST00000307493 human ensembl 70_37 -1 known silent c.672 p.F224 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM1 HGNC ADA 100 genome.wustl.edu 37 20 43248486 43248486 + Nonsense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 20 43248486 43248486 G A SNP ADA ENST00000372874 human ensembl 70_37 -1 known nonsense c.1081 p.Q361* 0.892 NULL pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase - no_errors ADA HGNC ADCY4 196883 genome.wustl.edu 37 14 24798648 24798648 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 14 24798648 24798648 G A SNP ADCY4 ENST00000310677 human ensembl 70_37 -1 known missense c.1309 p.R437W 0.997 pfam_A/G_cyclase,superfamily_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY4 HGNC ADCY8 114 genome.wustl.edu 37 8 132051626 132051626 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 132051626 132051626 G A SNP ADCY8 ENST00000286355 human ensembl 70_37 -1 known silent c.954 p.I318 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC HYKK 123688 genome.wustl.edu 37 15 78825706 78825706 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 15 78825706 78825706 C T SNP AGPHD1 ENST00000388988 human ensembl 70_37 +1 known silent c.816 p.Y272 1.000 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom - no_errors AGPHD1 HGNC AKAP10 11216 genome.wustl.edu 37 17 19835207 19835207 + Missense_Mutation SNP G G T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 17 19835207 19835207 G T SNP AKAP10 ENST00000225737 human ensembl 70_37 -1 known missense c.1552 p.L518M 0.994 NULL pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal - no_errors AKAP10 HGNC ALAD 210 genome.wustl.edu 37 9 116151721 116151721 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 116151721 116151721 G C SNP ALAD ENST00000409155 human ensembl 70_37 -1 known missense c.798 p.D266E 1.000 pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth,prints_Porphobilinogen_synth - no_errors ALAD HGNC ALKBH5 54890 genome.wustl.edu 37 17 18098344 18098344 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 17 18098344 18098344 C T SNP ALKBH5 ENST00000399138 human ensembl 70_37 +1 known silent c.846 p.L282 0.986 NULL NULL - no_errors ALKBH5 HGNC ANP32B 10541 genome.wustl.edu 37 9 100760874 100760874 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 100760874 100760874 G C SNP ANP32B ENST00000339399 human ensembl 70_37 +1 known missense c.241 p.D81H 1.000 NULL smart_U2A'_phosphoprotein32A_C - no_errors ANP32B HGNC AOAH 313 genome.wustl.edu 37 7 36729774 36729774 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 7 36729774 36729774 C T SNP AOAH ENST00000414637 human ensembl 70_37 -1 known missense c.139 p.E47K 0.000 NULL NULL - no_errors AOAH HGNC AP3B2 8120 genome.wustl.edu 37 15 83331647 83331647 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 15 83331647 83331647 G A SNP AP3B2 ENST00000261722 human ensembl 70_37 -1 known missense c.2575 p.R859W 0.272 superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta - no_errors AP3B2 HGNC APAF1 317 genome.wustl.edu 37 12 99042547 99042547 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 99042547 99042547 C T SNP APAF1 ENST00000551964 human ensembl 70_37 +1 known silent c.282 p.V94 0.006 pirsf_Apoptotic_pept-activating_1 pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep - no_errors APAF1 HGNC APOL2 23780 genome.wustl.edu 37 22 36633327 36633327 + RNA SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 22 36633327 36633327 C T SNP APOL2 ENST00000473549 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors APOL2 HGNC ARHGAP18 93663 genome.wustl.edu 37 6 129950525 129950525 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 129950525 129950525 C T SNP ARHGAP18 ENST00000275189 human ensembl 70_37 -1 known silent c.759 p.K253 0.002 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP18 HGNC ARL13A 392509 genome.wustl.edu 37 X 100245555 100245555 + Nonsense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 100245555 100245555 C G SNP ARL13A ENST00000450049 human ensembl 70_37 +1 novel nonsense c.749 p.S250* 0.111 NULL pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Small_GTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR - no_errors ARL13A HGNC ASIC3 9311 genome.wustl.edu 37 7 150749645 150749645 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 7 150749645 150749645 C G SNP ASIC3 ENST00000297512 human ensembl 70_37 +1 known missense c.1522 p.L508V 0.000 NULL pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC3 HGNC ASPH 444 genome.wustl.edu 37 8 62416034 62416034 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 62416034 62416034 C T SNP ASPH ENST00000379454 human ensembl 70_37 -1 known missense c.2161 p.D721N 1.000 pfam_Asp_Arg_b-Hydrxlase pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ASPH HGNC ATE1 11101 genome.wustl.edu 37 10 123549544 123549545 + RNA INS - - AC TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 10 123549544 123549545 - AC INS ATE1 ENST00000470613 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ATE1 HGNC ATF2 1386 genome.wustl.edu 37 2 175957892 175957892 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 2 175957892 175957892 C T SNP ATF2 ENST00000264110 human ensembl 70_37 -1 known missense c.1082 p.R361Q 1.000 pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_bZIP pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors ATF2 HGNC ATP13A2 23400 genome.wustl.edu 37 1 17331879 17331879 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 17331879 17331879 C T SNP ATP13A2 ENST00000326735 human ensembl 70_37 -1 known missense c.278 p.R93K 0.997 tigrfam_ATPase_P-typ_unknown-pump-sp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A2 HGNC ATP13A2 23400 genome.wustl.edu 37 1 17332006 17332006 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 17332006 17332006 G A SNP ATP13A2 ENST00000326735 human ensembl 70_37 -1 known missense c.151 p.H51Y 1.000 tigrfam_ATPase_P-typ_unknown-pump-sp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A2 HGNC ATP13A4 84239 genome.wustl.edu 37 3 193120514 193120514 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 193120514 193120514 G A SNP ATP13A4 ENST00000342695 human ensembl 70_37 -1 known missense c.3518 p.S1173F 0.996 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A4 HGNC ATP1A3 478 genome.wustl.edu 37 19 42489283 42489283 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 42489283 42489283 G C SNP ATP1A3 ENST00000302102 human ensembl 70_37 -1 known missense c.780 p.I260M 0.337 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A3 HGNC ATP5D 513 genome.wustl.edu 37 19 1242460 1242460 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 1242460 1242460 C T SNP ATP5D ENST00000215375 human ensembl 70_37 +1 known silent c.147 p.F49 0.999 pfam_ATPase_F1-cplx_dsu/esu_N,superfamily_ATPase_F1-cplx_dsu/esu_N,tigrfam_ATPase_F1-cplx_dsu/esu pfam_ATPase_F1-cplx_dsu/esu_N,superfamily_ATPase_F1-cplx_dsu/esu_N,superfamily_ATPase_F1-cplx_dsu/esu_C,tigrfam_ATPase_F1-cplx_dsu/esu - no_errors ATP5D HGNC ATXN1 6310 genome.wustl.edu 37 6 16327563 16327563 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 16327563 16327563 C T SNP ATXN1 ENST00000244769 human ensembl 70_37 -1 known missense c.979 p.E327K 1.000 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC AZIN1 51582 genome.wustl.edu 37 8 103848607 103848607 + Missense_Mutation SNP T T C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 103848607 103848607 T C SNP AZIN1 ENST00000337198 human ensembl 70_37 -1 known missense c.461 p.H154R 1.000 pfam_De-COase2_N,prints_Orn_de-COase pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase - no_errors AZIN1 HGNC BANK1 55024 genome.wustl.edu 37 4 102751337 102751337 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 4 102751337 102751337 C T SNP BANK1 ENST00000322953 human ensembl 70_37 +1 known missense c.443 p.S148F 0.998 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors BANK1 HGNC BOD1L1 259282 genome.wustl.edu 37 4 13603720 13603720 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 4 13603720 13603720 C T SNP BOD1L1 ENST00000040738 human ensembl 70_37 -1 known missense c.4804 p.E1602K 1.000 NULL NULL - no_errors BOD1L1 HGNC BOLL 66037 genome.wustl.edu 37 2 198621173 198621173 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 2 198621173 198621173 C T SNP BOLL ENST00000321801 human ensembl 70_37 -1 known silent c.744 p.L248 0.997 NULL pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom - no_errors BOLL HGNC BRD9 65980 genome.wustl.edu 37 5 884088 884088 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 5 884088 884088 G A SNP BRD9 ENST00000467963 human ensembl 70_37 -1 known missense c.931 p.R311W 0.972 pfam_DUF3512 pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD9 HGNC BRIP1 83990 genome.wustl.edu 37 17 59761153 59761153 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 17 59761153 59761153 C G SNP BRIP1 ENST00000259008 human ensembl 70_37 -1 known missense c.3254 p.R1085T 0.001 NULL pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors BRIP1 HGNC MYRFL 196446 genome.wustl.edu 37 12 70284768 70284768 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 70284768 70284768 G C SNP C12orf28 ENST00000547771 human ensembl 70_37 +1 known missense c.725 p.R242P 0.922 superfamily_p53-like_TF_DNA-bd pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors C12orf28 HGNC MYRFL 196446 genome.wustl.edu 37 12 70284779 70284779 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 70284779 70284779 G C SNP C12orf28 ENST00000547771 human ensembl 70_37 +1 known missense c.736 p.D246H 1.000 superfamily_p53-like_TF_DNA-bd pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors C12orf28 HGNC C17orf97 400566 genome.wustl.edu 37 17 263129 263129 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 17 263129 263129 G A SNP C17orf97 ENST00000360127 human ensembl 70_37 +1 known silent c.495 p.R165 0.001 NULL NULL - no_errors C17orf97 HGNC C19orf57 79173 genome.wustl.edu 37 19 14003957 14003957 + Nonsense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 14003957 14003957 G A SNP C19orf57 ENST00000454313 human ensembl 70_37 -1 known nonsense c.286 p.Q96* 0.991 NULL NULL - no_errors C19orf57 HGNC C1orf173 127254 genome.wustl.edu 37 1 75038033 75038033 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 75038033 75038033 C T SNP C1orf173 ENST00000326665 human ensembl 70_37 -1 known missense c.3361 p.E1121K 0.072 NULL NULL - no_errors C1orf173 HGNC C3orf70 285382 genome.wustl.edu 37 3 184870595 184870595 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 184870595 184870595 G A SNP C3orf70 ENST00000335012 human ensembl 70_37 -1 known missense c.17 p.S6L 0.804 NULL NULL - no_errors C3orf70 HGNC SMIM14 201895 genome.wustl.edu 37 4 39553616 39553616 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 4 39553616 39553616 G A SNP C4orf34 ENST00000510628 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors C4orf34 HGNC C8orf58 541565 genome.wustl.edu 37 8 22458791 22458791 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 22458791 22458791 G A SNP C8orf58 ENST00000289989 human ensembl 70_37 +1 known missense c.437 p.R146H 0.000 NULL NULL - no_errors C8orf58 HGNC C9orf3 84909 genome.wustl.edu 37 9 97690776 97690776 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 97690776 97690776 G A SNP C9orf3 ENST00000375315 human ensembl 70_37 +1 known missense c.1624 p.E542K 0.999 NULL pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold - no_errors C9orf3 HGNC CACNA1C 775 genome.wustl.edu 37 12 2797857 2797857 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 2797857 2797857 G A SNP CACNA1C ENST00000399634 human ensembl 70_37 +1 known missense c.6242 p.R2081K 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC CACTIN 58509 genome.wustl.edu 37 19 3614486 3614486 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 3614486 3614486 C T SNP CACTIN ENST00000221899 human ensembl 70_37 -1 known missense c.1060 p.E354K 1.000 pfam_Cactin_dom pfam_Cactin_dom,pfam_Cactin_C - no_errors CACTIN HGNC CADPS 8618 genome.wustl.edu 37 3 62860455 62860455 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 62860455 62860455 C T SNP CADPS ENST00000383710 human ensembl 70_37 -1 known missense c.250 p.A84T 0.998 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC CASP8 841 genome.wustl.edu 37 2 202149616 202149616 + Nonsense_Mutation SNP G G T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 2 202149616 202149616 G T SNP CASP8 ENST00000358485 human ensembl 70_37 +1 known nonsense c.1057 p.E353* 0.004 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20 pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP8 HGNC CBFA2T3 863 genome.wustl.edu 37 16 88968057 88968057 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 88968057 88968057 C T SNP CBFA2T3 ENST00000268679 human ensembl 70_37 -1 known silent c.159 p.V53 0.000 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16 - no_errors CBFA2T3 HGNC CCDC120 90060 genome.wustl.edu 37 X 48924808 48924808 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 48924808 48924808 C T SNP CCDC120 ENST00000422185 human ensembl 70_37 +1 known silent c.1053 p.F351 0.858 NULL pfam_DUF3338 - no_errors CCDC120 HGNC CCDC40 55036 genome.wustl.edu 37 17 78013713 78013713 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 17 78013713 78013713 G C SNP CCDC40 ENST00000397545 human ensembl 70_37 +1 known missense c.196 p.E66Q 0.005 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC CCDC88B 283234 genome.wustl.edu 37 11 64119761 64119761 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 64119761 64119761 C T SNP CCDC88B ENST00000356786 human ensembl 70_37 +1 known missense c.3259 p.R1087W 1.000 NULL pfam_HOOK - no_errors CCDC88B HGNC CD72 971 genome.wustl.edu 37 9 35616190 35616190 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 35616190 35616190 C T SNP CD72 ENST00000259633 human ensembl 70_37 -1 known silent c.438 p.K146 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CD72 HGNC CFL1P1 142913 genome.wustl.edu 37 10 89603785 89603785 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 10 89603785 89603785 G A SNP CFL1P1 ENST00000438248 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors CFL1P1 HGNC CHD7 55636 genome.wustl.edu 37 8 61693914 61693914 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 61693914 61693914 C T SNP CHD7 ENST00000307121 human ensembl 70_37 +1 known missense c.2021 p.P674L 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC CHRNA6 8973 genome.wustl.edu 37 8 42611231 42611231 + Missense_Mutation SNP G G T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 42611231 42611231 G T SNP CHRNA6 ENST00000276410 human ensembl 70_37 -1 known missense c.1111 p.P371T 0.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA6 HGNC COL16A1 1307 genome.wustl.edu 37 1 32131524 32131524 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 32131524 32131524 C G SNP COL16A1 ENST00000271069 human ensembl 70_37 -1 known missense c.3415 p.E1139Q 1.000 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL16A1 HGNC COL4A3BP 10087 genome.wustl.edu 37 5 74722252 74722252 + Missense_Mutation SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 5 74722252 74722252 C A SNP COL4A3BP ENST00000380494 human ensembl 70_37 -1 known missense c.784 p.V262L 1.000 NULL pfam_START_lipid-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_START_lipid-bd,pfscan_Pleckstrin_homology,pfscan_START_lipid-bd - no_errors COL4A3BP HGNC COL9A1 1297 genome.wustl.edu 37 6 70991093 70991093 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 70991093 70991093 G A SNP COL9A1 ENST00000357250 human ensembl 70_37 -1 known silent c.876 p.D292 0.987 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL9A1 HGNC COX4I1 1327 genome.wustl.edu 37 16 85839284 85839284 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 85839284 85839284 G A SNP COX4I1 ENST00000569997 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors COX4I1 HGNC CREBBP 1387 genome.wustl.edu 37 16 3900710 3900710 + Nonsense_Mutation SNP G G T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 3900710 3900710 G T SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known nonsense c.386 p.S129* 0.997 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 CREBBP HGNC CRNKL1 51340 genome.wustl.edu 37 20 20033073 20033073 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 20 20033073 20033073 C T SNP CRNKL1 ENST00000377340 human ensembl 70_37 -1 known missense c.397 p.E133K 0.004 NULL pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom - no_errors CRNKL1 HGNC CRYGC 1420 genome.wustl.edu 37 2 208993004 208993004 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 2 208993004 208993004 C G SNP CRYGC ENST00000282141 human ensembl 70_37 -1 known missense c.448 p.E150Q 0.997 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGC HGNC CUX1 1523 genome.wustl.edu 37 7 101845035 101845035 + Missense_Mutation SNP T T C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 7 101845035 101845035 T C SNP CUX1 ENST00000360264 human ensembl 70_37 +1 known missense c.2491 p.W831R 0.998 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC CXCL9 4283 genome.wustl.edu 37 4 76924773 76924773 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 4 76924773 76924773 G C SNP CXCL9 ENST00000264888 human ensembl 70_37 -1 known missense c.356 p.S119C 0.000 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC - no_errors CXCL9 HGNC CYLC1 1538 genome.wustl.edu 37 X 83128502 83128502 + Silent SNP T T C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 83128502 83128502 T C SNP CYLC1 ENST00000329312 human ensembl 70_37 +1 known silent c.786 p.D262 0.000 NULL NULL - no_errors CYLC1 HGNC CYP3A7 1551 genome.wustl.edu 37 7 99305594 99305594 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 7 99305594 99305594 G A SNP CYP3A7 ENST00000336374 human ensembl 70_37 -1 known silent c.1257 p.F419 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV 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 DCST1 149095 genome.wustl.edu 37 1 155015288 155015288 + Missense_Mutation SNP A A G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 155015288 155015288 A G SNP DCST1 ENST00000295542 human ensembl 70_37 +1 known missense c.970 p.I324V 0.016 NULL pfam_DC_STAMP-like,pfscan_Znf_RING - no_errors DCST1 HGNC DEFB132 400830 genome.wustl.edu 37 20 238470 238470 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 20 238470 238470 G A SNP DEFB132 ENST00000382376 human ensembl 70_37 +1 known silent c.51 p.V17 0.094 NULL NULL - no_errors DEFB132 HGNC DENND2A 27147 genome.wustl.edu 37 7 140266969 140266969 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 7 140266969 140266969 C T SNP DENND2A ENST00000275884 human ensembl 70_37 -1 known missense c.1696 p.E566K 1.000 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC DENND4B 9909 genome.wustl.edu 37 1 153906649 153906649 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 153906649 153906649 C T SNP DENND4B ENST00000361217 human ensembl 70_37 -1 known missense c.2903 p.R968Q 0.942 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC DIDO1 11083 genome.wustl.edu 37 20 61525382 61525382 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 20 61525382 61525382 C T SNP DIDO1 ENST00000266070 human ensembl 70_37 -1 known missense c.2737 p.E913K 0.026 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC DLG1 1739 genome.wustl.edu 37 3 196910630 196910630 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 196910630 196910630 C T SNP DLG1 ENST00000443183 human ensembl 70_37 -1 putative missense c.50 p.R17Q 1.000 pirsf_M-assoc_guanylate_kinase pfam_Guanylate_kin,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG1 HGNC DST 667 genome.wustl.edu 37 6 56417204 56417204 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 56417204 56417204 G A SNP DST ENST00000370754 human ensembl 70_37 -1 known silent c.16293 p.I5431 1.000 superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC DST 667 genome.wustl.edu 37 6 56417638 56417638 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 56417638 56417638 G C SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.15859 p.Q5287E 1.000 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC DST 667 genome.wustl.edu 37 6 56418448 56418448 + Missense_Mutation SNP G G T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 56418448 56418448 G T SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.15049 p.H5017N 1.000 superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ECT2 1894 genome.wustl.edu 37 3 172501696 172501696 + Silent SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 172501696 172501696 C G SNP ECT2 ENST00000427830 human ensembl 70_37 +1 known silent c.1632 p.L544 0.398 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain - no_errors ECT2 HGNC EEF1A2 1917 genome.wustl.edu 37 20 62121960 62121960 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 20 62121960 62121960 C T SNP EEF1A2 ENST00000217182 human ensembl 70_37 -1 known missense c.901 p.E301K 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,tigrfam_Transl_elong_EF1A_euk/arc pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A2 HGNC EIF3B 8662 genome.wustl.edu 37 7 2419073 2419073 + Nonsense_Mutation SNP G G T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 7 2419073 2419073 G T SNP EIF3B ENST00000360876 human ensembl 70_37 +1 known nonsense c.2386 p.E796* 1.000 pirsf_eIF3b pfam_TIF2A_beta_prop-like,pfam_RRM_dom,smart_RRM_dom,pirsf_eIF3b,pfscan_RRM_dom - no_errors EIF3B HGNC EIF4G3 8672 genome.wustl.edu 37 1 21268001 21268001 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 21268001 21268001 C T SNP EIF4G3 ENST00000374937 human ensembl 70_37 -1 known missense c.1496 p.R499K 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ELK4 2005 genome.wustl.edu 37 1 205588167 205588167 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 205588167 205588167 G C SNP ELK4 ENST00000357992 human ensembl 70_37 -1 known missense c.1115 p.S372C 1.000 NULL pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ELK4 HGNC EMX2 2018 genome.wustl.edu 37 10 119308122 119308122 + RNA SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 10 119308122 119308122 C G SNP EMX2 ENST00000442245 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors EMX2 HGNC ENPP1 5167 genome.wustl.edu 37 6 132189247 132189247 + Silent SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 132189247 132189247 C A SNP ENPP1 ENST00000360971 human ensembl 70_37 +1 known silent c.1254 p.L418 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP1 HGNC ENSG00000198491 0 genome.wustl.edu 37 3 186921620 186921620 + RNA SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 186921620 186921620 C G SNP ENSG00000198491 ENST00000356133 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-208N14.4 Clone_based_vega_gene ENSG00000211459 0 genome.wustl.edu 37 MT 1197 1197 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 MT 1197 1197 G A SNP ENSG00000211459 ENST00000389680 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors J01415.23 Clone_based_ensembl_gene ENSG00000213132 0 genome.wustl.edu 37 3 187897332 187897332 + Missense_Mutation SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 187897332 187897332 C A SNP ENSG00000213132 ENST00000392468 human ensembl 70_37 +1 known missense c.361 p.H121N 0.004 NULL NULL - no_errors AC022498.1 Clone_based_ensembl_gene ENSG00000225261 0 genome.wustl.edu 37 X 148630192 148630192 + RNA SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 148630192 148630192 C T SNP ENSG00000225261 ENST00000431993 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP5-937E21.8 Clone_based_vega_gene ENSG00000225411 0 genome.wustl.edu 37 9 68400407 68400407 + RNA SNP A A G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 68400407 68400407 A G SNP ENSG00000225411 ENST00000417843 human ensembl 70_37 -1 known rna NULL NULL 0.035 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000237357 0 genome.wustl.edu 37 9 44402342 44402342 + RNA SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 44402342 44402342 C T SNP ENSG00000237357 ENST00000435586 human ensembl 70_37 +1 known rna NULL NULL 0.033 - - - no_errors RP11-475I24.3 Clone_based_vega_gene ENSG00000242154 0 genome.wustl.edu 37 7 104946702 104946702 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 7 104946702 104946702 G A SNP ENSG00000242154 ENST00000476569 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP4-778K6.3 Clone_based_vega_gene ENSG00000254893 0 genome.wustl.edu 37 5 75466321 75466321 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 5 75466321 75466321 G A SNP ENSG00000254893 ENST00000527880 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-466P24.2 Clone_based_vega_gene ENSG00000258027 0 genome.wustl.edu 37 14 20146058 20146058 + RNA SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 14 20146058 20146058 C A SNP ENSG00000258027 ENST00000548261 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-597A11.1 Clone_based_vega_gene ENSG00000265798 0 genome.wustl.edu 37 17 29374484 29374484 + RNA SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 17 29374484 29374484 C T SNP ENSG00000265798 ENST00000583112 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-271K11.5 Clone_based_vega_gene EP300 2033 genome.wustl.edu 37 22 41545129 41545129 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 22 41545129 41545129 G A SNP EP300 ENST00000263253 human ensembl 70_37 +1 known missense c.2329 p.V777I 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 EPX 8288 genome.wustl.edu 37 17 56270823 56270823 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 17 56270823 56270823 C T SNP EPX ENST00000225371 human ensembl 70_37 +1 known missense c.262 p.R88W 0.001 NULL pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors EPX HGNC F13A1 2162 genome.wustl.edu 37 6 6167843 6167843 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 6167843 6167843 C G SNP F13A1 ENST00000264870 human ensembl 70_37 -1 known missense c.1756 p.E586Q 0.714 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors F13A1 HGNC FAM153C 653316 genome.wustl.edu 37 5 177480916 177480916 + RNA SNP T T G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 5 177480916 177480916 T G SNP FAM153C ENST00000506096 human ensembl 70_37 +1 known rna NULL NULL 0.011 - - - no_errors FAM153C HGNC FAM193A 8603 genome.wustl.edu 37 4 2701983 2701983 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 4 2701983 2701983 G A SNP FAM193A ENST00000324666 human ensembl 70_37 +1 known missense c.3211 p.E1071K 0.980 NULL NULL - no_errors FAM193A HGNC FAM47C 442444 genome.wustl.edu 37 X 37028659 37028659 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 37028659 37028659 C G SNP FAM47C ENST00000358047 human ensembl 70_37 +1 known missense c.2176 p.L726V 0.000 NULL NULL - no_errors FAM47C HGNC FAM71B 153745 genome.wustl.edu 37 5 156589943 156589943 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 5 156589943 156589943 G C SNP FAM71B ENST00000302938 human ensembl 70_37 -1 known missense c.1333 p.H445D 0.320 NULL pfam_DUF3699 - no_errors FAM71B HGNC FBXO15 201456 genome.wustl.edu 37 18 71793246 71793246 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 18 71793246 71793246 G A SNP FBXO15 ENST00000419743 human ensembl 70_37 -1 known silent c.876 p.F292 0.998 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO15 HGNC FBXO38 81545 genome.wustl.edu 37 5 147820794 147820794 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 5 147820794 147820794 G A SNP FBXO38 ENST00000340253 human ensembl 70_37 +1 known missense c.3382 p.E1128K 1.000 NULL superfamily_F-box_dom_cyclin-like - no_errors FBXO38 HGNC FBXO46 23403 genome.wustl.edu 37 19 46216269 46216269 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 46216269 46216269 G A SNP FBXO46 ENST00000317683 human ensembl 70_37 -1 known missense c.485 p.S162L 0.031 NULL superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO46 HGNC FLJ22763 401081 genome.wustl.edu 37 3 108867262 108867262 + RNA SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 108867262 108867262 C T SNP FLJ22763 ENST00000467240 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-59E19.1 Clone_based_vega_gene FRMD3 257019 genome.wustl.edu 37 9 85862838 85862838 + Missense_Mutation SNP A A G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 85862838 85862838 A G SNP FRMD3 ENST00000304195 human ensembl 70_37 -1 known missense c.1789 p.S597P 1.000 NULL pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FRMD3 HGNC FSCN3 29999 genome.wustl.edu 37 7 127231783 127231783 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 7 127231783 127231783 G A SNP FSCN3 ENST00000478328 human ensembl 70_37 +1 known rna NULL NULL 0.118 - - - no_errors FSCN3 HGNC FTH1P10 2502 genome.wustl.edu 37 5 17354384 17354384 + RNA SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 5 17354384 17354384 C G SNP FTH1P10 ENST00000401830 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors FTH1P10 HGNC FUNDC2 65991 genome.wustl.edu 37 X 154282927 154282927 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 154282927 154282927 C T SNP FUNDC2 ENST00000369498 human ensembl 70_37 +1 known silent c.550 p.L184 1.000 pfam_FUN14 pfam_FUN14 - no_errors FUNDC2 HGNC FUT2 2524 genome.wustl.edu 37 19 49206750 49206750 + Missense_Mutation SNP G G T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 49206750 49206750 G T SNP FUT2 ENST00000391876 human ensembl 70_37 +1 known missense c.537 p.Q179H 0.766 pfam_Glyco_trans_11 pfam_Glyco_trans_11 - no_errors FUT2 HGNC FUT2 2524 genome.wustl.edu 37 19 49206957 49206957 + Missense_Mutation SNP G G T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 49206957 49206957 G T SNP FUT2 ENST00000391876 human ensembl 70_37 +1 known missense c.744 p.W248C 1.000 pfam_Glyco_trans_11 pfam_Glyco_trans_11 - no_errors FUT2 HGNC FUT2 2524 genome.wustl.edu 37 19 49207015 49207015 + Nonsense_Mutation SNP G G T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 49207015 49207015 G T SNP FUT2 ENST00000391876 human ensembl 70_37 +1 known nonsense c.802 p.E268* 0.921 pfam_Glyco_trans_11 pfam_Glyco_trans_11 - no_errors FUT2 HGNC GABRE 2564 genome.wustl.edu 37 X 151123464 151123464 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 151123464 151123464 G A SNP GABRE ENST00000370328 human ensembl 70_37 -1 known silent c.1230 p.V410 0.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAe_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAe_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRE HGNC GABRE 2564 genome.wustl.edu 37 X 151127557 151127557 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 151127557 151127557 G A SNP GABRE ENST00000393914 human ensembl 70_37 -1 known silent c.270 p.L90 0.780 NULL NULL - no_errors GABRE HGNC GAGE10 102724473 genome.wustl.edu 37 X 49173691 49173691 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 49173691 49173691 G A SNP GAGE10 ENST00000407599 human ensembl 70_37 +1 known silent c.252 p.G84 0.000 pfam_GAGE pfam_GAGE - no_errors GAGE10 HGNC GAMT 2593 genome.wustl.edu 37 19 1399900 1399900 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 1399900 1399900 G A SNP GAMT ENST00000447102 human ensembl 70_37 -1 known silent c.219 p.I73 1.000 NULL NULL - no_errors GAMT HGNC GEMIN7 79760 genome.wustl.edu 37 19 45593642 45593642 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 45593642 45593642 C T SNP GEMIN7 ENST00000270257 human ensembl 70_37 +1 known silent c.270 p.A90 1.000 pfam_SMN_gemin7 pfam_SMN_gemin7 - no_errors GEMIN7 HGNC GFI1B 8328 genome.wustl.edu 37 9 135862686 135862686 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 135862686 135862686 C G SNP GFI1B ENST00000339463 human ensembl 70_37 +1 known missense c.118 p.P40A 0.018 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GFI1B HGNC GGA1 26088 genome.wustl.edu 37 22 38019460 38019460 + Nonsense_Mutation SNP G G T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 22 38019460 38019460 G T SNP GGA1 ENST00000343632 human ensembl 70_37 +1 known nonsense c.736 p.E246* 1.000 pfam_GAT,pfscan_GAT pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA1 HGNC GJA10 84694 genome.wustl.edu 37 6 90605391 90605391 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 90605391 90605391 C T SNP GJA10 ENST00000369352 human ensembl 70_37 +1 known missense c.1204 p.L402F 0.003 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJA10 HGNC GJC2 57165 genome.wustl.edu 37 1 228345731 228345731 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 228345731 228345731 C T SNP GJC2 ENST00000366714 human ensembl 70_37 +1 known missense c.272 p.S91L 0.731 pfam_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJC2 HGNC GNA15 2769 genome.wustl.edu 37 19 3151814 3151814 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 3151814 3151814 G A SNP GNA15 ENST00000262958 human ensembl 70_37 +1 known missense c.595 p.V199M 0.999 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,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_Q - no_errors GNA15 HGNC GPN3 51184 genome.wustl.edu 37 12 110906383 110906383 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 110906383 110906383 C T SNP GPN3 ENST00000543199 human ensembl 70_37 -1 known missense c.59 p.C20Y 0.006 NULL pfam_Uncharacterised_ATP-bd - no_errors GPN3 HGNC GPR124 25960 genome.wustl.edu 37 8 37686464 37686464 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 37686464 37686464 G A SNP GPR124 ENST00000412232 human ensembl 70_37 +1 known missense c.397 p.E133K 0.982 smart_Leu-rich_rpt_typical-subtyp pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like - no_errors GPR124 HGNC GPR63 81491 genome.wustl.edu 37 6 97246639 97246639 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 97246639 97246639 G C SNP GPR63 ENST00000229955 human ensembl 70_37 -1 known missense c.969 p.F323L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR63 HGNC GPRASP2 114928 genome.wustl.edu 37 X 101971104 101971104 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 101971104 101971104 G C SNP GPRASP2 ENST00000332262 human ensembl 70_37 +1 known missense c.1307 p.R436T 0.387 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP2 HGNC GRP 2922 genome.wustl.edu 37 18 56887606 56887606 + Missense_Mutation SNP A A T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 18 56887606 56887606 A T SNP GRP ENST00000256857 human ensembl 70_37 +1 known missense c.109 p.M37L 1.000 NULL pfam_Bombesin - no_errors GRP HGNC GSDMC 56169 genome.wustl.edu 37 8 130760789 130760789 + Silent SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 130760789 130760789 G C SNP GSDMC ENST00000276708 human ensembl 70_37 -1 known silent c.1485 p.L495 0.504 NULL pfam_Gasdermin - no_errors GSDMC HGNC HAGHL 84264 genome.wustl.edu 37 16 784556 784556 + RNA SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 784556 784556 C T SNP HAGHL ENST00000569604 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors HAGHL HGNC HCN2 610 genome.wustl.edu 37 19 615961 615961 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 615961 615961 G A SNP HCN2 ENST00000251287 human ensembl 70_37 +1 known silent c.2157 p.P719 0.732 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN2 HGNC HDHD1 8226 genome.wustl.edu 37 X 6975800 6975800 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 6975800 6975800 G A SNP HDHD1 ENST00000540122 human ensembl 70_37 -1 known missense c.575 p.S192L 0.001 NULL pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom - no_errors HDHD1 HGNC HLA-C 3107 genome.wustl.edu 37 6 31239093 31239093 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 31239093 31239093 C G SNP HLA-C ENST00000539307 human ensembl 70_37 -1 known missense c.487 p.D163H 0.193 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2 pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-C HGNC HLX 3142 genome.wustl.edu 37 1 221053615 221053615 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 221053615 221053615 C T SNP HLX ENST00000366903 human ensembl 70_37 +1 known missense c.416 p.P139L 0.048 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors HLX HGNC HMCN1 83872 genome.wustl.edu 37 1 185987424 185987424 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 185987424 185987424 C T SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known missense c.5410 p.R1804W 0.998 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC HNRNPL 3191 genome.wustl.edu 37 19 39334736 39334736 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 39334736 39334736 G A SNP HNRNPL ENST00000221419 human ensembl 70_37 -1 known missense c.719 p.S240L 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRNPL HGNC HOXD4 3233 genome.wustl.edu 37 2 177017452 177017452 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 2 177017452 177017452 C T SNP HOXD4 ENST00000306324 human ensembl 70_37 +1 known missense c.550 p.R184W 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia,pfscan_Homeodomain - no_errors HOXD4 HGNC HP 3240 genome.wustl.edu 37 16 72090480 72090480 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 72090480 72090480 C T SNP HP ENST00000355906 human ensembl 70_37 +1 known missense c.140 p.S47L 0.000 superfamily_Complement_control_module,pfscan_Sushi_SCR_CCP pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Peptidase_S1_S6,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HP HGNC HPS3 84343 genome.wustl.edu 37 3 148863259 148863259 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 148863259 148863259 G A SNP HPS3 ENST00000296051 human ensembl 70_37 +1 known silent c.1089 p.L363 0.017 pirsf_BLOC-2_complex_Hps3_subunit pirsf_BLOC-2_complex_Hps3_subunit - no_errors HPS3 HGNC HPX 3263 genome.wustl.edu 37 11 6452912 6452912 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 6452912 6452912 G A SNP HPX ENST00000265983 human ensembl 70_37 -1 known missense c.1088 p.A363V 1.000 superfamily_Hemopexin/matrixin,pirsf_Hemopexin_chordata pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Hemopexin_chordata - no_errors HPX HGNC HRNR 388697 genome.wustl.edu 37 1 152186490 152186490 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 152186490 152186490 C T SNP HRNR ENST00000368801 human ensembl 70_37 -1 known missense c.7615 p.G2539S 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC IARS2 55699 genome.wustl.edu 37 1 220311206 220311206 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 220311206 220311206 G A SNP IARS2 ENST00000488777 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors IARS2 HGNC IBTK 25998 genome.wustl.edu 37 6 82912252 82912252 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 82912252 82912252 C T SNP IBTK ENST00000306270 human ensembl 70_37 -1 known missense c.2722 p.E908K 1.000 NULL pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC IGF1R 3480 genome.wustl.edu 37 15 99467897 99467897 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 15 99467897 99467897 C T SNP IGF1R ENST00000268035 human ensembl 70_37 +1 known silent c.2766 p.F922 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_insulin-like_rcpt,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_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors IGF1R HGNC IGSF9B 22997 genome.wustl.edu 37 11 133805598 133805598 + Missense_Mutation SNP T T C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 133805598 133805598 T C SNP IGSF9B ENST00000321016 human ensembl 70_37 -1 known missense c.881 p.K294R 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9B HGNC IL23A 51561 genome.wustl.edu 37 12 56733530 56733530 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 56733530 56733530 C T SNP IL23A ENST00000228534 human ensembl 70_37 +1 known missense c.317 p.S106L 0.999 pfam_IL6_MGF_GCSF,superfamily_4_helix_cytokine-like_core pfam_IL6_MGF_GCSF,superfamily_4_helix_cytokine-like_core - no_errors IL23A HGNC IL23A 51561 genome.wustl.edu 37 12 56733801 56733801 + Silent SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 56733801 56733801 C G SNP IL23A ENST00000228534 human ensembl 70_37 +1 known silent c.483 p.L161 1.000 pfam_IL6_MGF_GCSF,superfamily_4_helix_cytokine-like_core pfam_IL6_MGF_GCSF,superfamily_4_helix_cytokine-like_core - no_errors IL23A HGNC IL31RA 133396 genome.wustl.edu 37 5 55212857 55212857 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 5 55212857 55212857 G A SNP IL31RA ENST00000447346 human ensembl 70_37 +1 known missense c.2204 p.G735E 0.000 NULL pfam_Fibronectin_type3,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL31RA HGNC IL33 90865 genome.wustl.edu 37 9 6250569 6250569 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 6250569 6250569 G C SNP IL33 ENST00000381434 human ensembl 70_37 +1 known missense c.187 p.E63Q 0.001 NULL NULL - no_errors IL33 HGNC IMPA2 3613 genome.wustl.edu 37 18 12008345 12008345 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 18 12008345 12008345 C G SNP IMPA2 ENST00000383376 human ensembl 70_37 +1 known missense c.244 p.L82V 0.006 NULL pfam_Inositol_monophosphatase - no_errors IMPA2 HGNC INTS10 55174 genome.wustl.edu 37 8 19681401 19681401 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 19681401 19681401 G C SNP INTS10 ENST00000397977 human ensembl 70_37 +1 known missense c.682 p.D228H 1.000 NULL NULL - no_errors INTS10 HGNC IRAK2 3656 genome.wustl.edu 37 3 10251363 10251363 + Frame_Shift_Del DEL C C - TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 10251363 10251363 C - DEL IRAK2 ENST00000256458 human ensembl 70_37 +1 known frame_shift_del c.515 p.S172fs 0.013 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors IRAK2 HGNC ISG15 9636 genome.wustl.edu 37 1 949717 949717 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 949717 949717 C T SNP ISG15 ENST00000379389 human ensembl 70_37 +1 known silent c.357 p.D119 0.000 pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors ISG15 HGNC ISLR2 57611 genome.wustl.edu 37 15 74425398 74425398 + Silent SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 15 74425398 74425398 C G SNP ISLR2 ENST00000361742 human ensembl 70_37 +1 known silent c.303 p.L101 0.995 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like - no_errors ISLR2 HGNC JAKMIP3 282973 genome.wustl.edu 37 10 133981481 133981481 + RNA SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 10 133981481 133981481 C G SNP JAKMIP3 ENST00000477275 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors JAKMIP3 HGNC KBTBD8 84541 genome.wustl.edu 37 3 67048774 67048774 + RNA SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 67048774 67048774 C G SNP KBTBD8 ENST00000469661 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors KBTBD8 HGNC KIF1A 547 genome.wustl.edu 37 2 241660385 241660385 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 2 241660385 241660385 G C SNP KIF1A ENST00000498729 human ensembl 70_37 -1 known missense c.4814 p.P1605R 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC KLHL33 123103 genome.wustl.edu 37 14 20897328 20897328 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 14 20897328 20897328 C T SNP KLHL33 ENST00000344581 human ensembl 70_37 -1 known missense c.1282 p.E428K 0.991 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BACK,smart_Kelch_1 - no_errors KLHL33 HGNC KLHL38 340359 genome.wustl.edu 37 8 124664926 124664926 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 124664926 124664926 C T SNP KLHL38 ENST00000325995 human ensembl 70_37 -1 known missense c.241 p.D81N 0.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL38 HGNC KRT24 192666 genome.wustl.edu 37 17 38857427 38857427 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 17 38857427 38857427 C T SNP KRT24 ENST00000264651 human ensembl 70_37 -1 known missense c.820 p.E274K 1.000 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT24 HGNC KY 339855 genome.wustl.edu 37 3 134366309 134366309 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 134366309 134366309 C T SNP KY ENST00000423778 human ensembl 70_37 -1 known missense c.167 p.R56K 1.000 NULL pfam_Transglutaminase-like,smart_Transglutaminase-like - no_errors KY HGNC LAMA3 3909 genome.wustl.edu 37 18 21364001 21364001 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 18 21364001 21364001 C T SNP LAMA3 ENST00000313654 human ensembl 70_37 +1 known silent c.1483 p.L495 0.001 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC LAMB3 3914 genome.wustl.edu 37 1 209788694 209788694 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 209788694 209788694 C T SNP LAMB3 ENST00000356082 human ensembl 70_37 -1 known silent c.3441 p.L1147 0.946 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC LAMP5 24141 genome.wustl.edu 37 20 9496676 9496676 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 20 9496676 9496676 G C SNP LAMP5 ENST00000246070 human ensembl 70_37 +1 known missense c.267 p.L89F 0.976 pfam_Lysosome-assoc_membr_glycop pfam_Lysosome-assoc_membr_glycop - no_errors LAMP5 HGNC LBR 3930 genome.wustl.edu 37 1 225606999 225606999 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 225606999 225606999 G A SNP LBR ENST00000272163 human ensembl 70_37 -1 known silent c.606 p.I202 0.000 pfam_Ergosterol_biosynth_ERG4_ERG24 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor - no_errors LBR HGNC LEUTX 342900 genome.wustl.edu 37 19 40276439 40276439 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 40276439 40276439 G A SNP LEUTX ENST00000396841 human ensembl 70_37 +1 novel silent c.171 p.K57 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,pfscan_Homeodomain - no_errors LEUTX HGNC LINC00442 348021 genome.wustl.edu 37 13 19586373 19586373 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 13 19586373 19586373 G A SNP LINC00442 ENST00000428086 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors LINC00442 HGNC LINC00539 100652865 genome.wustl.edu 37 13 21875617 21875617 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 13 21875617 21875617 G A SNP LINC00539 ENST00000424756 human ensembl 70_37 +1 known rna NULL NULL 0.901 - - - no_errors LINC00539 HGNC LINS 55180 genome.wustl.edu 37 15 101109673 101109673 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 15 101109673 101109673 G C SNP LINS ENST00000314742 human ensembl 70_37 -1 known missense c.2044 p.L682V 0.003 NULL NULL - no_errors LINS HGNC LOC100132815 100132815 genome.wustl.edu 37 19 23456955 23456955 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 23456955 23456955 G A SNP LOC100132815 ENST00000593324 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors RP11-15H20.6 Clone_based_vega_gene LOC100506303 100506303 genome.wustl.edu 37 14 19685595 19685595 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 14 19685595 19685595 G A SNP LOC100506303 ENST00000418499 human ensembl 70_37 +1 known rna NULL NULL 0.057 - - - no_errors AL589743.1 Clone_based_vega_gene LOC100996870 100996870 genome.wustl.edu 37 9 66466414 66466414 + RNA SNP A A G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 66466414 66466414 A G SNP LOC100996870 ENST00000424345 human ensembl 70_37 +1 known rna NULL NULL 0.013 - - - no_errors RP11-262H14.1 Clone_based_vega_gene LOC101060787 101060787 genome.wustl.edu 37 22 20708827 20708827 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 22 20708827 20708827 G A SNP LOC101060787 ENST00000434783 human ensembl 70_37 +1 putative missense c.559 p.E187K 0.000 superfamily_Kinase-like_dom pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors AC007731.1 Clone_based_vega_gene LOC728741 728741 genome.wustl.edu 37 16 28354457 28354457 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 28354457 28354457 G A SNP LOC728741 ENST00000532254 human ensembl 70_37 -1 novel missense c.749 p.P250L 0.047 pfam_NPIP pfam_NPIP - no_errors A-575C2.4 Uniprot_genename LONP1 9361 genome.wustl.edu 37 19 5694527 5694527 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 5694527 5694527 C T SNP LONP1 ENST00000360614 human ensembl 70_37 -1 known missense c.2191 p.E731K 0.468 tigrfam_Pept_S16_lon pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon - no_errors LONP1 HGNC LONP1 9361 genome.wustl.edu 37 19 5719717 5719717 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 5719717 5719717 C T SNP LONP1 ENST00000360614 human ensembl 70_37 -1 known missense c.427 p.E143K 1.000 pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N,tigrfam_Pept_S16_lon pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon - no_errors LONP1 HGNC LPCAT2 54947 genome.wustl.edu 37 16 55563840 55563840 + Nonsense_Mutation SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 55563840 55563840 C A SNP LPCAT2 ENST00000262134 human ensembl 70_37 +1 known nonsense c.623 p.S208* 1.000 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase pfam_EF-hand,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors LPCAT2 HGNC LRCH3 84859 genome.wustl.edu 37 3 197593020 197593020 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 197593020 197593020 C G SNP LRCH3 ENST00000438796 human ensembl 70_37 +1 known missense c.1803 p.I601M 0.927 NULL pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH3 HGNC LRP4-AS1 100507401 genome.wustl.edu 37 11 46894788 46894788 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 46894788 46894788 G A SNP LRP4-AS1 ENST00000502049 human ensembl 70_37 +1 known rna NULL NULL 0.448 - - - no_errors LRP4-AS1 HGNC LRRC41 10489 genome.wustl.edu 37 1 46751848 46751848 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 46751848 46751848 G A SNP LRRC41 ENST00000343304 human ensembl 70_37 -1 known silent c.681 p.V227 0.488 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC LRRC41 10489 genome.wustl.edu 37 1 46752035 46752035 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 46752035 46752035 C T SNP LRRC41 ENST00000343304 human ensembl 70_37 -1 known missense c.494 p.R165Q 0.996 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC LRRC47 57470 genome.wustl.edu 37 1 3703508 3703508 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 3703508 3703508 C T SNP LRRC47 ENST00000378251 human ensembl 70_37 -1 known missense c.982 p.E328K 0.086 NULL pfam_Leu-rich_rpt,pfam_B3/B4_tRNA-bd,smart_Leu-rich_rpt_typical-subtyp,smart_B3/B4_tRNA-bd - no_errors LRRC47 HGNC MAGEB16 139604 genome.wustl.edu 37 X 35820353 35820353 + Nonsense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 35820353 35820353 C T SNP MAGEB16 ENST00000399992 human ensembl 70_37 +1 known nonsense c.136 p.Q46* 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB16 HGNC MARCH9 92979 genome.wustl.edu 37 12 58152517 58152517 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 58152517 58152517 C G SNP MARCH9 ENST00000266643 human ensembl 70_37 +1 known missense c.878 p.S293C 0.817 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH9 HGNC MB21D2 151963 genome.wustl.edu 37 3 192516720 192516720 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 192516720 192516720 G C SNP MB21D2 ENST00000392452 human ensembl 70_37 -1 known missense c.931 p.Q311E 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MB21D2 HGNC MCF2L 23263 genome.wustl.edu 37 13 113741698 113741698 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 13 113741698 113741698 C G SNP MCF2L ENST00000375604 human ensembl 70_37 +1 known missense c.2694 p.F898L 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC MDH2 4191 genome.wustl.edu 37 7 75689770 75689770 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 7 75689770 75689770 C G SNP MDH2 ENST00000315758 human ensembl 70_37 +1 known missense c.509 p.T170R 1.000 pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_type1 pfam_Lactate/malate_DH_C,pfam_Lactate/malate_DH_N,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_type1 - no_errors MDH2 HGNC MDN1 23195 genome.wustl.edu 37 6 90377756 90377756 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 90377756 90377756 C T SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.14071 p.D4691N 1.000 superfamily_ARM-type_fold,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC MED12L 116931 genome.wustl.edu 37 3 151087234 151087234 + Missense_Mutation SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 151087234 151087234 C A SNP MED12L ENST00000474524 human ensembl 70_37 +1 known missense c.3456 p.F1152L 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC MEFV 4210 genome.wustl.edu 37 16 3298943 3298943 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 3298943 3298943 C T SNP MEFV ENST00000219596 human ensembl 70_37 -1 known missense c.1322 p.R441Q 0.394 NULL pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC MEMO1 51072 genome.wustl.edu 37 2 32095023 32095024 + Splice_Site INS - - A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 2 32095023 32095024 - A INS MEMO1 ENST00000379383 human ensembl 70_37 -1 known splice_site_ins c.667-3_667-2 e8-2 1.000:0.998 - - - no_errors MEMO1 HGNC MFSD4 148808 genome.wustl.edu 37 1 205553173 205553173 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 205553173 205553173 G A SNP MFSD4 ENST00000367147 human ensembl 70_37 +1 known missense c.781 p.D261N 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD4 HGNC MGC21881 0 genome.wustl.edu 37 9 66553736 66553736 + RNA SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 66553736 66553736 C T SNP MGC21881 ENST00000305709 human ensembl 70_37 +1 known rna NULL NULL 0.118 - - - no_errors RP11-262H14.4 Clone_based_vega_gene MIA3 375056 genome.wustl.edu 37 1 222826431 222826431 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 222826431 222826431 G C SNP MIA3 ENST00000344441 human ensembl 70_37 +1 known missense c.4168 p.D1390H 1.000 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC MPHOSPH9 10198 genome.wustl.edu 37 12 123645783 123645783 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 123645783 123645783 G A SNP MPHOSPH9 ENST00000541076 human ensembl 70_37 -1 known missense c.2825 p.S942L 0.000 NULL superfamily_Prefoldin - no_errors MPHOSPH9 HGNC MPHOSPH9 10198 genome.wustl.edu 37 12 123702982 123702982 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 123702982 123702982 C G SNP MPHOSPH9 ENST00000541076 human ensembl 70_37 -1 known missense c.481 p.D161H 0.956 NULL superfamily_Prefoldin - no_errors MPHOSPH9 HGNC MS4A12 54860 genome.wustl.edu 37 11 60265180 60265180 + RNA SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 60265180 60265180 C T SNP MS4A12 ENST00000525951 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MS4A12 HGNC MST1L 11223 genome.wustl.edu 37 1 17085591 17085591 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 17085591 17085591 C T SNP MST1L ENST00000334998 human ensembl 70_37 -1 known missense c.1130 p.R377H 0.998 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors MST1L HGNC MT-ND5 4540 genome.wustl.edu 37 MT 12397 12397 + Missense_Mutation SNP A A G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 MT 12397 12397 A G SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known missense c.61 p.T21A NULL tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC MTMR11 10903 genome.wustl.edu 37 1 149900659 149900659 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 149900659 149900659 G A SNP MTMR11 ENST00000466496 human ensembl 70_37 -1 known rna NULL NULL 0.601 - - - no_errors MTMR11 HGNC MUC5B 727897 genome.wustl.edu 37 11 1269691 1269691 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 1269691 1269691 C T SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.11590 p.H3864Y 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 MUM1 84939 genome.wustl.edu 37 19 1358418 1358418 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 1358418 1358418 G A SNP MUM1 ENST00000344663 human ensembl 70_37 +1 known missense c.172 p.E58K 0.000 NULL pfam_PWWP - no_errors MUM1 HGNC MUTYH 4595 genome.wustl.edu 37 1 45805915 45805915 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 45805915 45805915 G A SNP MUTYH ENST00000450313 human ensembl 70_37 -1 known silent c.12 p.L4 0.001 NULL pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,superfamily_NUDIX_hydrolase_dom-like,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif - no_errors MUTYH HGNC MVD 4597 genome.wustl.edu 37 16 88723974 88723974 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 88723974 88723974 C T SNP MVD ENST00000301012 human ensembl 70_37 -1 known silent c.273 p.R91 0.278 superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Mev_diP_decarb,tigrfam_Mev_diP_decarb pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Mev_diP_decarb,tigrfam_Mev_diP_decarb - no_errors MVD HGNC MYH16 84176 genome.wustl.edu 37 7 98902340 98902340 + RNA SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 7 98902340 98902340 G C SNP MYH16 ENST00000453378 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MYH16 HGNC MYH4 4622 genome.wustl.edu 37 17 10364245 10364245 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 17 10364245 10364245 C T SNP MYH4 ENST00000255381 human ensembl 70_37 -1 known missense c.1135 p.D379N 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC MYO18A 399687 genome.wustl.edu 37 17 27438756 27438756 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 17 27438756 27438756 C T SNP MYO18A ENST00000354329 human ensembl 70_37 -1 known silent c.2724 p.Q908 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC MYOT 9499 genome.wustl.edu 37 5 137211606 137211606 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 5 137211606 137211606 G A SNP MYOT ENST00000239926 human ensembl 70_37 +1 known missense c.445 p.E149K 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MYOT HGNC NAA25 80018 genome.wustl.edu 37 12 112491435 112491435 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 112491435 112491435 G A SNP NAA25 ENST00000261745 human ensembl 70_37 -1 known missense c.1655 p.S552F 0.985 pfam_N-acetylTrfase_B_cplx_non-cat pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC NAT8 9027 genome.wustl.edu 37 2 73868749 73868749 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 2 73868749 73868749 G A SNP NAT8 ENST00000272425 human ensembl 70_37 -1 known missense c.7 p.P3S 0.514 NULL pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT8 HGNC NBEA 26960 genome.wustl.edu 37 13 36026253 36026253 + Nonsense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 13 36026253 36026253 C G SNP NBEA ENST00000310336 human ensembl 70_37 +1 known nonsense c.6329 p.S2110* 0.966 pfam_DUF1088 pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC NBPF1 55672 genome.wustl.edu 37 1 16921146 16921146 + RNA SNP T T C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 16921146 16921146 T C SNP NBPF1 ENST00000420513 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors NBPF1 HGNC NDUFAF7 55471 genome.wustl.edu 37 2 37473261 37473261 + Nonsense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 2 37473261 37473261 C T SNP NDUFAF7 ENST00000002125 human ensembl 70_37 +1 known nonsense c.859 p.Q287* 0.003 pfam_MidA pfam_MidA - no_errors NDUFAF7 HGNC NET1 10276 genome.wustl.edu 37 10 5494406 5494406 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 10 5494406 5494406 G C SNP NET1 ENST00000355029 human ensembl 70_37 +1 known missense c.449 p.R150T 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors NET1 HGNC NFAT5 10725 genome.wustl.edu 37 16 69724847 69724847 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 69724847 69724847 G A SNP NFAT5 ENST00000432919 human ensembl 70_37 +1 known missense c.1779 p.M593I 1.000 superfamily_Ig_E-set pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC NIN 51199 genome.wustl.edu 37 14 51223799 51223799 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 14 51223799 51223799 C G SNP NIN ENST00000245441 human ensembl 70_37 -1 known missense c.3949 p.E1317Q 0.981 NULL superfamily_tRNA-bd_arm,pfscan_EF_HAND_2 - no_errors NIN HGNC NKTR 4820 genome.wustl.edu 37 3 42674223 42674223 + Missense_Mutation SNP G G T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 42674223 42674223 G T SNP NKTR ENST00000232978 human ensembl 70_37 +1 known missense c.681 p.K227N 1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC NUP153 9972 genome.wustl.edu 37 6 17632951 17632951 + Missense_Mutation SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 17632951 17632951 C A SNP NUP153 ENST00000537253 human ensembl 70_37 -1 known missense c.2682 p.Q894H 0.999 pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC NUP188 23511 genome.wustl.edu 37 9 131742975 131742975 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 131742975 131742975 C T SNP NUP188 ENST00000372577 human ensembl 70_37 +1 known silent c.1360 p.L454 1.000 pfam_Nucleoporin_Nup188 pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC NUSAP1 51203 genome.wustl.edu 37 15 41672441 41672442 + RNA INS - - T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 15 41672441 41672442 - T INS NUSAP1 ENST00000558123 human ensembl 70_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors NUSAP1 HGNC OBSCN 84033 genome.wustl.edu 37 1 228558866 228558866 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 228558866 228558866 C G SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.20387 p.S6796C 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC OBSCN 84033 genome.wustl.edu 37 1 228559531 228559531 + Nonsense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 228559531 228559531 C T SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known nonsense c.21052 p.Q7018* 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC OBSCN 84033 genome.wustl.edu 37 1 228559700 228559700 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 228559700 228559700 C T SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.21221 p.S7074L 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC OBSCN 84033 genome.wustl.edu 37 1 228559915 228559915 + Missense_Mutation SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 228559915 228559915 C A SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.21436 p.L7146M 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC OGFOD1 55239 genome.wustl.edu 37 16 56485629 56485629 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 56485629 56485629 G C SNP OGFOD1 ENST00000566157 human ensembl 70_37 +1 known missense c.105 p.L35F 1.000 NULL pfam_Oxoglutarate/Fe-dep_Oase_C,smart_Pro_4_hyd_alph - no_errors OGFOD1 HGNC OR10J1 26476 genome.wustl.edu 37 1 159410128 159410128 + Missense_Mutation SNP G G T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 159410128 159410128 G T SNP OR10J1 ENST00000423932 human ensembl 70_37 +1 known missense c.580 p.V194L 0.659 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J1 HGNC OR2K2 26248 genome.wustl.edu 37 9 114090765 114090765 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 114090765 114090765 G A SNP OR2K2 ENST00000374428 human ensembl 70_37 -1 known silent c.36 p.L12 0.003 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2K2 HGNC OR56A1 120796 genome.wustl.edu 37 11 6048812 6048812 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 6048812 6048812 G A SNP OR56A1 ENST00000316650 human ensembl 70_37 -1 known silent c.123 p.L41 0.516 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR56A1 HGNC OR8B2 26595 genome.wustl.edu 37 11 124253147 124253147 + Silent SNP A A G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 124253147 124253147 A G SNP OR8B2 ENST00000375013 human ensembl 70_37 -1 known silent c.93 p.F31 0.003 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B2 HGNC PARP14 54625 genome.wustl.edu 37 3 122418737 122418737 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 122418737 122418737 G A SNP PARP14 ENST00000474629 human ensembl 70_37 +1 known missense c.1336 p.E446K 0.204 NULL pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC PBX1 5087 genome.wustl.edu 37 1 164610544 164610544 + RNA SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 164610544 164610544 C T SNP PBX1 ENST00000474046 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PBX1 HGNC PCDHB7 56129 genome.wustl.edu 37 5 140553782 140553782 + Missense_Mutation SNP T T A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 5 140553782 140553782 T A SNP PCDHB7 ENST00000231137 human ensembl 70_37 +1 known missense c.1366 p.Y456N 0.998 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC PCED1A 64773 genome.wustl.edu 37 20 2816949 2816949 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 20 2816949 2816949 C T SNP PCED1A ENST00000360652 human ensembl 70_37 -1 known missense c.853 p.E285K 1.000 NULL superfamily_Esterase_SGNH_hydro-type - no_errors PCED1A HGNC PDS5A 23244 genome.wustl.edu 37 4 39851196 39851196 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 4 39851196 39851196 C T SNP PDS5A ENST00000303538 human ensembl 70_37 -1 known missense c.3163 p.E1055K 1.000 NULL superfamily_ARM-type_fold - no_errors PDS5A HGNC PFKL 5211 genome.wustl.edu 37 21 45733844 45733844 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 21 45733844 45733844 C T SNP PFKL ENST00000403390 human ensembl 70_37 +1 known silent c.828 p.F276 1.000 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKL HGNC PGK2 5232 genome.wustl.edu 37 6 49754714 49754714 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 49754714 49754714 G A SNP PGK2 ENST00000304801 human ensembl 70_37 -1 known missense c.187 p.H63Y 1.000 pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase - no_errors PGK2 HGNC PGLYRP2 114770 genome.wustl.edu 37 19 15587259 15587259 + Nonsense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 15587259 15587259 C T SNP PGLYRP2 ENST00000292609 human ensembl 70_37 -1 known nonsense c.222 p.W74* 0.000 NULL pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP2 HGNC PHACTR3 116154 genome.wustl.edu 37 20 58381200 58381200 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 20 58381200 58381200 G C SNP PHACTR3 ENST00000371015 human ensembl 70_37 +1 known missense c.1279 p.D427H 0.985 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR3 HGNC PHLDA3 23612 genome.wustl.edu 37 1 201437750 201437750 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 201437750 201437750 G A SNP PHLDA3 ENST00000367309 human ensembl 70_37 -1 known silent c.165 p.F55 1.000 smart_Pleckstrin_homology smart_Pleckstrin_homology - no_errors PHLDA3 HGNC PIEZO2 63895 genome.wustl.edu 37 18 10704485 10704485 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 18 10704485 10704485 C T SNP PIEZO2 ENST00000580640 human ensembl 70_37 -1 novel silent c.5901 p.T1967 0.474 NULL pfam_DUF3595 - no_errors PIEZO2 HGNC PIK3C3 5289 genome.wustl.edu 37 18 39593471 39593471 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 18 39593471 39593471 G C SNP PIK3C3 ENST00000262039 human ensembl 70_37 +1 known missense c.1236 p.K412N 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,pirsf_PI3K_Vps34 pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C3 HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PKHD1L1 93035 genome.wustl.edu 37 8 110463247 110463247 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 110463247 110463247 G A SNP PKHD1L1 ENST00000378402 human ensembl 70_37 +1 known silent c.6219 p.G2073 0.979 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC PLA2G6 8398 genome.wustl.edu 37 22 38512122 38512122 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 22 38512122 38512122 G A SNP PLA2G6 ENST00000332509 human ensembl 70_37 -1 known silent c.1839 p.F613 0.006 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Ankyrin_rpt,pfam_Patatin/PLipase_A2-rel,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PLA2G6 HGNC PLCB3 5331 genome.wustl.edu 37 11 64023987 64023987 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 64023987 64023987 G A SNP PLCB3 ENST00000279230 human ensembl 70_37 +1 known missense c.838 p.E280K 1.000 pirsf_PLC-beta,pfam_PLipase_C_EF-hand-like 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,pfam_C2_Ca-dep,pfam_PLC-beta_CS,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 PLCB3 HGNC PLCD1 5333 genome.wustl.edu 37 3 38051397 38051397 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 38051397 38051397 C G SNP PLCD1 ENST00000463876 human ensembl 70_37 -1 known missense c.1348 p.E450Q 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD1 HGNC PLEKHD1 400224 genome.wustl.edu 37 14 69995111 69995111 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 14 69995111 69995111 C T SNP PLEKHD1 ENST00000322564 human ensembl 70_37 +1 known missense c.1496 p.S499L 0.006 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHD1 HGNC PLGLB1 5343 genome.wustl.edu 37 2 87248858 87248858 + Missense_Mutation SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 2 87248858 87248858 C A SNP PLGLB1 ENST00000355705 human ensembl 70_37 -1 known missense c.49 p.G17C 0.975 pfscan_Pan_app pfam_PAN-1_domain,smart_Pan_app,pfscan_Pan_app - no_errors PLGLB1 HGNC PLXNA3 55558 genome.wustl.edu 37 X 153694817 153694817 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 153694817 153694817 C T SNP PLXNA3 ENST00000369682 human ensembl 70_37 +1 known silent c.2898 p.V966 0.045 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA3 HGNC PML 5371 genome.wustl.edu 37 15 74336918 74336918 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 15 74336918 74336918 G A SNP PML ENST00000268058 human ensembl 70_37 +1 known missense c.2218 p.E740K 0.025 NULL pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC PMPCA 23203 genome.wustl.edu 37 9 139309033 139309033 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 139309033 139309033 G C SNP PMPCA ENST00000371717 human ensembl 70_37 +1 known missense c.466 p.D156H 1.000 pfam_Pept_M16_N,superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors PMPCA HGNC PMS2 5395 genome.wustl.edu 37 7 6027075 6027075 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 7 6027075 6027075 C T SNP PMS2 ENST00000265849 human ensembl 70_37 -1 known missense c.1321 p.E441K 0.090 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N - no_errors PMS2 HGNC PNRC1 10957 genome.wustl.edu 37 6 89790830 89790830 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 89790830 89790830 C T SNP PNRC1 ENST00000336032 human ensembl 70_37 +1 known missense c.217 p.R73C 0.115 NULL NULL - no_errors PNRC1 HGNC POLD2 5425 genome.wustl.edu 37 7 44155465 44155465 + Silent SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 7 44155465 44155465 C G SNP POLD2 ENST00000406581 human ensembl 70_37 -1 known silent c.1047 p.V349 1.000 pfam_DNA_pol_alpha/epsilon_bsu pfam_DNA_pol_alpha/epsilon_bsu - no_errors POLD2 HGNC PPP6R2 9701 genome.wustl.edu 37 22 50876641 50876641 + Silent SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 22 50876641 50876641 C A SNP PPP6R2 ENST00000216061 human ensembl 70_37 +1 known silent c.1878 p.R626 0.992 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R2 HGNC PREX1 57580 genome.wustl.edu 37 20 47260976 47260976 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 20 47260976 47260976 G C SNP PREX1 ENST00000371941 human ensembl 70_37 -1 known missense c.3572 p.S1191C 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC PRKCI 5584 genome.wustl.edu 37 3 169998189 169998189 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 169998189 169998189 G A SNP PRKCI ENST00000295797 human ensembl 70_37 +1 known missense c.880 p.E294K 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,pirsf_PKC_zeta,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKCI HGNC PTPN13 5783 genome.wustl.edu 37 4 87671990 87671990 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 4 87671990 87671990 G A SNP PTPN13 ENST00000436978 human ensembl 70_37 +1 known silent c.3018 p.Q1006 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC PTPRZ1 5803 genome.wustl.edu 37 7 121652558 121652558 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 7 121652558 121652558 C G SNP PTPRZ1 ENST00000393386 human ensembl 70_37 +1 known missense c.3458 p.S1153C 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,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,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC PTX4 390667 genome.wustl.edu 37 16 1536493 1536493 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 1536493 1536493 C T SNP PTX4 ENST00000447419 human ensembl 70_37 -1 known missense c.884 p.R295Q 0.888 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors PTX4 HGNC RBM6 10180 genome.wustl.edu 37 3 50114529 50114529 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 50114529 50114529 G A SNP RBM6 ENST00000266022 human ensembl 70_37 +1 known missense c.3335 p.R1112Q 1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC REC8 9985 genome.wustl.edu 37 14 24649099 24649099 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 14 24649099 24649099 C T SNP REC8 ENST00000311457 human ensembl 70_37 +1 known silent c.1542 p.F514 1.000 pfam_Rad21/Rec8_C_eu pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu - no_errors REC8 HGNC RFX1 5989 genome.wustl.edu 37 19 14073659 14073659 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 14073659 14073659 C T SNP RFX1 ENST00000254325 human ensembl 70_37 -1 known missense c.2788 p.E930K 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX1 HGNC RGPD2 729857 genome.wustl.edu 37 2 88071757 88071757 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 2 88071757 88071757 G A SNP RGPD2 ENST00000398146 human ensembl 70_37 -1 known missense c.5167 p.L1723F 1.000 pfam_GRIP,superfamily_GRIP,smart_GRIP,pfscan_GRIP pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_2,pfam_TPR-1,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD2 HGNC RLF 6018 genome.wustl.edu 37 1 40702077 40702077 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 40702077 40702077 G C SNP RLF ENST00000372771 human ensembl 70_37 +1 known missense c.1703 p.R568T 0.999 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC RNF20 56254 genome.wustl.edu 37 9 104312939 104312939 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 104312939 104312939 C T SNP RNF20 ENST00000389120 human ensembl 70_37 +1 known missense c.1144 p.R382C 1.000 superfamily_STAT_TF_coiled-coil superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF20 HGNC RNF213 57674 genome.wustl.edu 37 17 78360057 78360057 + Silent SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 17 78360057 78360057 C A SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known silent c.14547 p.I4849 0.997 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC RP1L1 94137 genome.wustl.edu 37 8 10466721 10466721 + Silent SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 10466721 10466721 G C SNP RP1L1 ENST00000382483 human ensembl 70_37 -1 known silent c.4887 p.L1629 0.000 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC RPAP1 26015 genome.wustl.edu 37 15 41819251 41819251 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 15 41819251 41819251 G A SNP RPAP1 ENST00000304330 human ensembl 70_37 -1 known missense c.1762 p.R588W 0.994 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC RPS6KB2 6199 genome.wustl.edu 37 11 67200801 67200801 + RNA SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 67200801 67200801 C A SNP RPS6KB2 ENST00000526268 human ensembl 70_37 +1 known rna NULL NULL 0.141 - - - no_errors RPS6KB2 HGNC RRN3P2 653390 genome.wustl.edu 37 16 29113431 29113431 + RNA SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 29113431 29113431 C T SNP RRN3P2 ENST00000427965 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RRN3P2 HGNC RTN4 57142 genome.wustl.edu 37 2 55201029 55201029 + RNA SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 2 55201029 55201029 C T SNP RTN4 ENST00000485749 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RTN4 HGNC SALL3 27164 genome.wustl.edu 37 18 76754229 76754229 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 18 76754229 76754229 G A SNP SALL3 ENST00000537592 human ensembl 70_37 +1 known silent c.2238 p.K746 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC SAMD4B 55095 genome.wustl.edu 37 19 39868421 39868421 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 39868421 39868421 C T SNP SAMD4B ENST00000314471 human ensembl 70_37 +1 known silent c.1401 p.A467 0.490 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4B HGNC SDK1 221935 genome.wustl.edu 37 7 3991463 3991463 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 7 3991463 3991463 C T SNP SDK1 ENST00000404826 human ensembl 70_37 +1 known missense c.1061 p.S354F 0.057 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK1 HGNC SECISBP2 79048 genome.wustl.edu 37 9 91972358 91972358 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 91972358 91972358 G A SNP SECISBP2 ENST00000375807 human ensembl 70_37 +1 known missense c.2146 p.D716N 0.341 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2 HGNC SEMA6C 10500 genome.wustl.edu 37 1 151104757 151104757 + RNA SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 151104757 151104757 C T SNP SEMA6C ENST00000479820 human ensembl 70_37 -1 known rna NULL NULL 0.854 - - - no_errors SEMA6C HGNC SFSWAP 6433 genome.wustl.edu 37 12 132195808 132195808 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 132195808 132195808 G A SNP SFSWAP ENST00000261674 human ensembl 70_37 +1 known missense c.34 p.E12K 0.940 NULL pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC SGSM1 129049 genome.wustl.edu 37 22 25294203 25294203 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 22 25294203 25294203 G A SNP SGSM1 ENST00000400359 human ensembl 70_37 +1 known missense c.2452 p.E818K 0.823 superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC SH3RF1 57630 genome.wustl.edu 37 4 170037479 170037479 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 4 170037479 170037479 C T SNP SH3RF1 ENST00000284637 human ensembl 70_37 -1 known missense c.2080 p.D694N 0.951 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox,prints_SH3_domain - no_errors SH3RF1 HGNC SI 6476 genome.wustl.edu 37 3 164780194 164780194 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 164780194 164780194 C T SNP SI ENST00000264382 human ensembl 70_37 -1 known missense c.985 p.D329N 1.000 pfam_Glyco_hydro_31,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 SI HGNC SIM1 6492 genome.wustl.edu 37 6 100896461 100896461 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 100896461 100896461 C T SNP SIM1 ENST00000262901 human ensembl 70_37 -1 known missense c.637 p.V213M 1.000 NULL pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom - no_errors SIM1 HGNC SIPA1L1 26037 genome.wustl.edu 37 14 72090905 72090905 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 14 72090905 72090905 C T SNP SIPA1L1 ENST00000555818 human ensembl 70_37 +1 known silent c.1770 p.F590 1.000 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L1 HGNC SLC20A2 6575 genome.wustl.edu 37 8 42296980 42296980 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 42296980 42296980 G A SNP SLC20A2 ENST00000342228 human ensembl 70_37 -1 known missense c.922 p.R308W 0.947 pfam_Phos_transporter pfam_Phos_transporter - no_errors SLC20A2 HGNC SLC22A2 6582 genome.wustl.edu 37 6 160662520 160662520 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 160662520 160662520 G A SNP SLC22A2 ENST00000366953 human ensembl 70_37 -1 known missense c.1487 p.P496L 1.000 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A2 HGNC SLC22A6 9356 genome.wustl.edu 37 11 62752043 62752043 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 62752043 62752043 G A SNP SLC22A6 ENST00000377871 human ensembl 70_37 -1 known silent c.120 p.F40 1.000 tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A6 HGNC SLC25A41 284427 genome.wustl.edu 37 19 6426421 6426421 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 6426421 6426421 C T SNP SLC25A41 ENST00000321510 human ensembl 70_37 -1 known missense c.1092 p.M364I 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A41 HGNC SLC25A41 284427 genome.wustl.edu 37 19 6426429 6426429 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 6426429 6426429 C T SNP SLC25A41 ENST00000321510 human ensembl 70_37 -1 known missense c.1084 p.E362K 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A41 HGNC SLC33A1 9197 genome.wustl.edu 37 3 155571228 155571228 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 155571228 155571228 C T SNP SLC33A1 ENST00000359479 human ensembl 70_37 -1 known missense c.559 p.E187K 1.000 superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1 superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1 - no_errors SLC33A1 HGNC SLC35D1 23169 genome.wustl.edu 37 1 67512952 67512952 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 67512952 67512952 G A SNP SLC35D1 ENST00000235345 human ensembl 70_37 -1 known missense c.632 p.S211L 1.000 pfam_DUF250 pfam_DUF250 - no_errors SLC35D1 HGNC SLC3A2 6520 genome.wustl.edu 37 11 62649362 62649362 + RNA SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 62649362 62649362 C T SNP SLC3A2 ENST00000457660 human ensembl 70_37 +1 known rna NULL NULL 0.969 - - - no_errors SLC3A2 HGNC SLC41A1 254428 genome.wustl.edu 37 1 205764636 205764636 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 205764636 205764636 G A SNP SLC41A1 ENST00000484228 human ensembl 70_37 -1 known rna NULL NULL 0.024 - - - no_errors SLC41A1 HGNC SMEK2 57223 genome.wustl.edu 37 2 55826043 55826043 + Nonsense_Mutation SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 2 55826043 55826043 C A SNP SMEK2 ENST00000272313 human ensembl 70_37 -1 known nonsense c.430 p.E144* 1.000 NULL pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK2 HGNC SMG1 23049 genome.wustl.edu 37 16 18841282 18841282 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 18841282 18841282 G A SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known silent c.9099 p.F3033 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC SNAP47 116841 genome.wustl.edu 37 1 227920971 227920971 + RNA SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 227920971 227920971 C T SNP SNAP47 ENST00000480265 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNAP47 HGNC SND1 27044 genome.wustl.edu 37 7 127637781 127637781 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 7 127637781 127637781 G A SNP SND1 ENST00000467238 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SND1 HGNC SNORD115-38 100033812 genome.wustl.edu 37 15 25484993 25484993 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 15 25484993 25484993 G A SNP SNORD115-38 ENST00000365037 human ensembl 70_37 +1 known rna NULL NULL 0.287 - - - no_errors SNORD115-38 HGNC SPATA7 55812 genome.wustl.edu 37 14 88892894 88892894 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 14 88892894 88892894 G A SNP SPATA7 ENST00000393545 human ensembl 70_37 +1 known missense c.691 p.E231K 1.000 NULL NULL - no_errors SPATA7 HGNC SPATC1 375686 genome.wustl.edu 37 8 145101575 145101575 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 145101575 145101575 G C SNP SPATC1 ENST00000377470 human ensembl 70_37 +1 known missense c.1494 p.Q498H 0.980 NULL NULL - no_errors SPATC1 HGNC SPTAN1 6709 genome.wustl.edu 37 9 131346737 131346737 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 131346737 131346737 C T SNP SPTAN1 ENST00000358161 human ensembl 70_37 +1 known silent c.2370 p.F790 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC SPTAN1 6709 genome.wustl.edu 37 9 131348188 131348188 + Nonsense_Mutation SNP G G T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 131348188 131348188 G T SNP SPTAN1 ENST00000358161 human ensembl 70_37 +1 known nonsense c.2722 p.E908* 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC SSH3 54961 genome.wustl.edu 37 11 67072324 67072324 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 67072324 67072324 C T SNP SSH3 ENST00000308127 human ensembl 70_37 +1 known missense c.185 p.S62F 0.002 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH3 HGNC STAB2 55576 genome.wustl.edu 37 12 103988265 103988265 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 103988265 103988265 G A SNP STAB2 ENST00000388887 human ensembl 70_37 +1 known missense c.308 p.G103D 0.977 NULL pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC STARD8 9754 genome.wustl.edu 37 X 67940224 67940224 + Nonsense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 67940224 67940224 C T SNP STARD8 ENST00000374599 human ensembl 70_37 +1 known nonsense c.2008 p.Q670* 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_START_lipid-bd,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors STARD8 HGNC STIP1 10963 genome.wustl.edu 37 11 63960623 63960623 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 63960623 63960623 C G SNP STIP1 ENST00000305218 human ensembl 70_37 +1 known missense c.83 p.S28C 1.000 pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors STIP1 HGNC STIP1 10963 genome.wustl.edu 37 11 63963265 63963265 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 63963265 63963265 C T SNP STIP1 ENST00000305218 human ensembl 70_37 +1 known missense c.652 p.L218F 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors STIP1 HGNC STK38 11329 genome.wustl.edu 37 6 36483160 36483160 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 36483160 36483160 G A SNP STK38 ENST00000229812 human ensembl 70_37 -1 known silent c.624 p.F208 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 STRN 6801 genome.wustl.edu 37 2 37096817 37096817 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 2 37096817 37096817 C T SNP STRN ENST00000263918 human ensembl 70_37 -1 known missense c.1379 p.R460K 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Striatin_N,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 STRN HGNC SUGP1 57794 genome.wustl.edu 37 19 19391009 19391009 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 19391009 19391009 C T SNP SUGP1 ENST00000247001 human ensembl 70_37 -1 known silent c.1335 p.L445 0.998 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP1 HGNC SYNCRIP 10492 genome.wustl.edu 37 6 86349998 86349998 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 86349998 86349998 C T SNP SYNCRIP ENST00000369622 human ensembl 70_37 -1 known missense c.316 p.E106K 1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors SYNCRIP HGNC SYNE2 23224 genome.wustl.edu 37 14 64679634 64679634 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 14 64679634 64679634 G C SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.18967 p.E6323Q 1.000 smart_Spectrin/alpha-actinin 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 TAB2 23118 genome.wustl.edu 37 6 149699241 149699241 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 6 149699241 149699241 G C SNP TAB2 ENST00000286332 human ensembl 70_37 +1 known missense c.190 p.D64H 0.998 NULL pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB2 HGNC TAF1A 9015 genome.wustl.edu 37 1 222732050 222732050 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 222732050 222732050 C T SNP TAF1A ENST00000350027 human ensembl 70_37 -1 known silent c.1305 p.R435 0.347 pirsf_RNA_pol_I_TAF1A/TAFI48 pirsf_RNA_pol_I_TAF1A/TAFI48 - no_errors TAF1A HGNC TAF7L 54457 genome.wustl.edu 37 X 100541591 100541591 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 100541591 100541591 C T SNP TAF7L ENST00000372907 human ensembl 70_37 -1 known missense c.375 p.M125I 0.028 pfam_TAFII55_prot_cons_reg pfam_TAFII55_prot_cons_reg - no_errors TAF7L HGNC TAS2R31 259290 genome.wustl.edu 37 12 11183564 11183564 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 11183564 11183564 C T SNP TAS2R31 ENST00000390675 human ensembl 70_37 -1 known missense c.371 p.R124K 0.066 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R31 HGNC TAS2R60 338398 genome.wustl.edu 37 7 143141297 143141297 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 7 143141297 143141297 C G SNP TAS2R60 ENST00000332690 human ensembl 70_37 +1 known missense c.752 p.S251C 0.014 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R60 HGNC TCAM1P 146771 genome.wustl.edu 37 17 61934514 61934514 + RNA SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 17 61934514 61934514 C T SNP TCAM1P ENST00000478379 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TCAM1P HGNC TENM1 10178 genome.wustl.edu 37 X 123657466 123657466 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 123657466 123657466 G A SNP TENM1 ENST00000422452 human ensembl 70_37 -1 known silent c.2781 p.L927 0.013 superfamily_CarboxyPept-like_regulatory pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC TH 7054 genome.wustl.edu 37 11 2191050 2191050 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 2191050 2191050 C T SNP TH ENST00000381178 human ensembl 70_37 -1 known missense c.235 p.E79K 1.000 pfam_Tyrosine_hydroxylase_CS,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Tyr_3_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_Tyrosine_hydroxylase_CS,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase - no_errors TH HGNC TIMELESS 8914 genome.wustl.edu 37 12 56817595 56817595 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 56817595 56817595 G A SNP TIMELESS ENST00000553532 human ensembl 70_37 -1 known missense c.1952 p.S651F 0.040 NULL pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC TLCD1 116238 genome.wustl.edu 37 17 27051702 27051702 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 17 27051702 27051702 G A SNP TLCD1 ENST00000292090 human ensembl 70_37 -1 known silent c.570 p.L190 1.000 pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors TLCD1 HGNC TLN1 7094 genome.wustl.edu 37 9 35707158 35707158 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 35707158 35707158 G A SNP TLN1 ENST00000314888 human ensembl 70_37 -1 known silent c.4866 p.V1622 1.000 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN1 HGNC TMEM132D 121256 genome.wustl.edu 37 12 129558610 129558610 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 129558610 129558610 G A SNP TMEM132D ENST00000422113 human ensembl 70_37 -1 known missense c.3110 p.S1037F 1.000 NULL NULL - no_errors TMEM132D HGNC TMEM187 8269 genome.wustl.edu 37 X 153248290 153248290 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 153248290 153248290 G A SNP TMEM187 ENST00000369982 human ensembl 70_37 +1 known silent c.777 p.K259 0.005 NULL NULL - no_errors TMEM187 HGNC TMEM194A 23306 genome.wustl.edu 37 12 57464515 57464515 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 57464515 57464515 G A SNP TMEM194A ENST00000300128 human ensembl 70_37 -1 known silent c.414 p.T138 1.000 NULL pfam_TMEM194 - no_errors TMEM194A HGNC TMEM82 388595 genome.wustl.edu 37 1 16074126 16074126 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 16074126 16074126 G A SNP TMEM82 ENST00000375782 human ensembl 70_37 +1 known silent c.1031 p.*344 0.972 NULL NULL - no_errors TMEM82 HGNC TMLHE 55217 genome.wustl.edu 37 X 154754249 154754249 + Missense_Mutation SNP G G T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 154754249 154754249 G T SNP TMLHE ENST00000334398 human ensembl 70_37 -1 known missense c.226 p.L76I 1.000 pfam_DUF971,tigrfam_Trimethyllysine_dOase pfam_Taurine_dOase,pfam_DUF971,tigrfam_Trimethyllysine_dOase - no_errors TMLHE HGNC TMPO 7112 genome.wustl.edu 37 12 98931269 98931269 + Silent SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 98931269 98931269 C G SNP TMPO ENST00000556029 human ensembl 70_37 +1 known silent c.582 p.L194 1.000 NULL pfam_Thymopoietin_LEM,pfam_LEM,superfamily_LEM-like_dom,smart_LEM,pfscan_LEM,pfscan_Thymopoietin_LEM - no_errors TMPO HGNC TNRC6B 23112 genome.wustl.edu 37 22 40662236 40662236 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 22 40662236 40662236 G A SNP TNRC6B ENST00000454349 human ensembl 70_37 +1 known missense c.2002 p.D668N 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC TOPORS-AS1 100129250 genome.wustl.edu 37 9 32566511 32566511 + RNA SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 9 32566511 32566511 G A SNP TOPORS-AS1 ENST00000425533 human ensembl 70_37 +1 known rna NULL NULL 0.900 - - - no_errors TOPORS-AS1 HGNC TPCN2 219931 genome.wustl.edu 37 11 68822655 68822655 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 68822655 68822655 C T SNP TPCN2 ENST00000294309 human ensembl 70_37 +1 known silent c.264 p.F88 0.015 NULL pfam_Ion_trans_dom - no_errors TPCN2 HGNC TPD52L2 7165 genome.wustl.edu 37 20 62514094 62514094 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 20 62514094 62514094 C T SNP TPD52L2 ENST00000217121 human ensembl 70_37 +1 known missense c.397 p.L133F 0.961 pfam_TPD52 pfam_TPD52 - no_errors TPD52L2 HGNC TPST2 8459 genome.wustl.edu 37 22 26936758 26936758 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 22 26936758 26936758 G A SNP TPST2 ENST00000338754 human ensembl 70_37 -1 known missense c.839 p.S280F 1.000 NULL pfam_Sulfotransferase_dom - no_errors TPST2 HGNC TPT1-AS1 100190939 genome.wustl.edu 37 13 45953898 45953898 + RNA SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 13 45953898 45953898 C G SNP TPT1-AS1 ENST00000405697 human ensembl 70_37 +1 known rna NULL NULL 0.056 - - - no_errors TPT1-AS1 HGNC TRAF3IP3 80342 genome.wustl.edu 37 1 209953918 209953918 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 209953918 209953918 G A SNP TRAF3IP3 ENST00000367024 human ensembl 70_37 +1 known silent c.1416 p.K472 1.000 NULL NULL - no_errors TRAF3IP3 HGNC TRMT2B 79979 genome.wustl.edu 37 X 100275544 100275544 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 X 100275544 100275544 G A SNP TRMT2B ENST00000372935 human ensembl 70_37 -1 known missense c.1100 p.S367F 0.003 pfam_U5_MeTrfase,pfam_Small_mtfrase_dom pfam_U5_MeTrfase,pfam_Small_mtfrase_dom - no_errors TRMT2B HGNC TRPS1 7227 genome.wustl.edu 37 8 116616305 116616305 + Nonsense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 116616305 116616305 G A SNP TRPS1 ENST00000395715 human ensembl 70_37 -1 known nonsense c.1891 p.Q631* 1.000 smart_Znf_C2H2-like pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC TRPS1 7227 genome.wustl.edu 37 8 116616497 116616497 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 116616497 116616497 G A SNP TRPS1 ENST00000395715 human ensembl 70_37 -1 known missense c.1699 p.H567Y 1.000 smart_Znf_C2H2-like pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC TRPS1 7227 genome.wustl.edu 37 8 116616498 116616498 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 116616498 116616498 G A SNP TRPS1 ENST00000395715 human ensembl 70_37 -1 known silent c.1698 p.L566 1.000 smart_Znf_C2H2-like pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC TSR3 115939 genome.wustl.edu 37 16 1400941 1400941 + Missense_Mutation SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 1400941 1400941 C A SNP TSR3 ENST00000007390 human ensembl 70_37 -1 known missense c.393 p.E131D 1.000 pfam_DUF367 pfam_DUF367,pfam_RNaseL-inhib_metal-bd_dom - no_errors TSR3 HGNC TTC28 23331 genome.wustl.edu 37 22 28397377 28397377 + Silent SNP G G T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 22 28397377 28397377 G T SNP TTC28 ENST00000397906 human ensembl 70_37 -1 novel silent c.4383 p.L1461 0.001 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC28 HGNC TXNDC2 84203 genome.wustl.edu 37 18 9886715 9886715 + Missense_Mutation SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 18 9886715 9886715 C A SNP TXNDC2 ENST00000306084 human ensembl 70_37 +1 known missense c.239 p.S80Y 0.001 NULL pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold - no_errors TXNDC2 HGNC TXNDC2 84203 genome.wustl.edu 37 18 9886724 9886724 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 18 9886724 9886724 C T SNP TXNDC2 ENST00000306084 human ensembl 70_37 +1 known missense c.248 p.S83L 0.001 NULL pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold - no_errors TXNDC2 HGNC TXNDC2 84203 genome.wustl.edu 37 18 9886754 9886754 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 18 9886754 9886754 C T SNP TXNDC2 ENST00000306084 human ensembl 70_37 +1 known missense c.278 p.S93L 0.005 pfam_Glutenin pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold - no_errors TXNDC2 HGNC UNC5D 137970 genome.wustl.edu 37 8 35542126 35542126 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 35542126 35542126 G C SNP UNC5D ENST00000404895 human ensembl 70_37 +1 known missense c.778 p.E260Q 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5D HGNC WAPAL 23063 genome.wustl.edu 37 10 88213057 88213057 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 10 88213057 88213057 G C SNP WAPAL ENST00000342368 human ensembl 70_37 -1 known missense c.3124 p.L1042V 1.000 pfam_WAPL_prot,superfamily_ARM-type_fold pfam_WAPL_prot,superfamily_ARM-type_fold - no_errors WAPAL HGNC WASF2 10163 genome.wustl.edu 37 1 27734742 27734742 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 27734742 27734742 C T SNP WASF2 ENST00000430629 human ensembl 70_37 -1 known missense c.1438 p.E480K 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF2 HGNC WDR81 124997 genome.wustl.edu 37 17 1629218 1629218 + Missense_Mutation SNP A A G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 17 1629218 1629218 A G SNP WDR81 ENST00000409644 human ensembl 70_37 +1 known missense c.965 p.D322G 0.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC WFDC10A 140832 genome.wustl.edu 37 20 44258464 44258464 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 20 44258464 44258464 G A SNP WFDC10A ENST00000372643 human ensembl 70_37 +1 known silent c.12 p.Q4 0.042 NULL pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core - no_errors WFDC10A HGNC WFS1 7466 genome.wustl.edu 37 4 6302702 6302702 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 4 6302702 6302702 G A SNP WFS1 ENST00000226760 human ensembl 70_37 +1 known missense c.1180 p.E394K 1.000 NULL NULL - no_errors WFS1 HGNC XRN1 54464 genome.wustl.edu 37 3 142075797 142075797 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 142075797 142075797 C T SNP XRN1 ENST00000264951 human ensembl 70_37 -1 known missense c.3629 p.G1210E 1.000 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC YAF2 10138 genome.wustl.edu 37 12 42629419 42629419 + RNA SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 12 42629419 42629419 C T SNP YAF2 ENST00000541702 human ensembl 70_37 -1 known rna NULL NULL 0.970 - - - no_errors YAF2 HGNC ZBTB3 79842 genome.wustl.edu 37 11 62520586 62520586 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 11 62520586 62520586 G A SNP ZBTB3 ENST00000394807 human ensembl 70_37 -1 known missense c.701 p.P234L 0.145 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB3 HGNC ZC3H12A 80149 genome.wustl.edu 37 1 37945919 37945919 + Silent SNP C C A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 1 37945919 37945919 C A SNP ZC3H12A ENST00000373082 human ensembl 70_37 +1 known silent c.472 p.R158 1.000 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ZC3H18 124245 genome.wustl.edu 37 16 88694357 88694357 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 16 88694357 88694357 G A SNP ZC3H18 ENST00000301011 human ensembl 70_37 +1 known missense c.2299 p.E767K 1.000 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ZFPM2 23414 genome.wustl.edu 37 8 106815372 106815372 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 8 106815372 106815372 C T SNP ZFPM2 ENST00000407775 human ensembl 70_37 +1 known missense c.3062 p.S1021L 0.998 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ZFYVE16 9765 genome.wustl.edu 37 5 79744022 79744022 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 5 79744022 79744022 G A SNP ZFYVE16 ENST00000338008 human ensembl 70_37 +1 known missense c.2902 p.D968N 0.011 pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE16 HGNC ZFYVE20 64145 genome.wustl.edu 37 3 15115861 15115861 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 3 15115861 15115861 G C SNP ZFYVE20 ENST00000253699 human ensembl 70_37 -1 known missense c.1783 p.Q595E 0.000 NULL pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors ZFYVE20 HGNC ZNF257 113835 genome.wustl.edu 37 19 22271465 22271465 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 22271465 22271465 C G SNP ZNF257 ENST00000594947 human ensembl 70_37 +1 known missense c.913 p.Q305E 0.251 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 ZNF257 HGNC ZNF286B 729288 genome.wustl.edu 37 17 18565375 18565375 + Missense_Mutation SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 17 18565375 18565375 G A SNP ZNF286B ENST00000545289 human ensembl 70_37 -1 known missense c.1444 p.L482F 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF286B HGNC ZNF414 84330 genome.wustl.edu 37 19 8578212 8578212 + Nonsense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 8578212 8578212 G C SNP ZNF414 ENST00000393927 human ensembl 70_37 -1 known nonsense c.17 p.S6* 0.003 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF414 HGNC ZNF44 51710 genome.wustl.edu 37 19 12384320 12384320 + Silent SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 12384320 12384320 C T SNP ZNF44 ENST00000393337 human ensembl 70_37 -1 known silent c.894 p.E298 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 ZNF44 HGNC ZNF732 654254 genome.wustl.edu 37 4 266109 266109 + Silent SNP G G A TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 4 266109 266109 G A SNP ZNF732 ENST00000419098 human ensembl 70_37 -1 known silent c.537 p.F179 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 ZNF732 HGNC ZNF836 162962 genome.wustl.edu 37 19 52660227 52660227 + Missense_Mutation SNP G G C TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2a32c706-afef-4a0a-bf1e-381d1d41f1eb 20edb89b-cf05-4701-9da9-95da8e6b7038 19 52660227 52660227 G C SNP ZNF836 ENST00000322146 human ensembl 70_37 -1 known missense c.709 p.Q237E 0.003 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF836 HGNC