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 AATK 9625 genome.wustl.edu 37 17 79098591 79098591 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 79098591 79098591 C T SNP AATK ENST00000326724 human ensembl 70_37 -1 known missense c.898 p.E300K 0.999 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AATK HGNC ABCA1 19 genome.wustl.edu 37 9 107583755 107583755 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 9 107583755 107583755 G A SNP ABCA1 ENST00000374736 human ensembl 70_37 -1 known missense c.2861 p.S954L 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ACSS1 84532 genome.wustl.edu 37 20 25000666 25000666 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 20 25000666 25000666 G C SNP ACSS1 ENST00000323482 human ensembl 70_37 -1 known missense c.1226 p.S409C 1.000 pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC ACTC1 70 genome.wustl.edu 37 15 35085533 35085533 + Nonsense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 35085533 35085533 G A SNP ACTC1 ENST00000290378 human ensembl 70_37 -1 known nonsense c.367 p.Q123* 1.000 pfam_Actin-like,smart_Actin-like,prints_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTC1 HGNC ACVR1C 130399 genome.wustl.edu 37 2 158406726 158406726 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 158406726 158406726 C T SNP ACVR1C ENST00000243349 human ensembl 70_37 -1 known silent c.723 p.T241 0.014 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_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ACVR1C HGNC ADCK5 203054 genome.wustl.edu 37 8 145616340 145616340 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 145616340 145616340 G A SNP ADCK5 ENST00000308860 human ensembl 70_37 +1 known missense c.550 p.E184K 0.987 superfamily_Kinase-like_dom pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK5 HGNC ADCY2 108 genome.wustl.edu 37 5 7698477 7698477 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 7698477 7698477 G A SNP ADCY2 ENST00000338316 human ensembl 70_37 +1 known missense c.1099 p.E367K 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_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 ADCY2 HGNC ADCY3 109 genome.wustl.edu 37 2 25095469 25095469 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 25095469 25095469 C T SNP ADCY3 ENST00000260600 human ensembl 70_37 -1 known silent c.795 p.K265 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ADCY5 111 genome.wustl.edu 37 3 123010071 123010071 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 123010071 123010071 G A SNP ADCY5 ENST00000462833 human ensembl 70_37 -1 known silent c.3216 p.V1072 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_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 ADCY5 HGNC ADCY8 114 genome.wustl.edu 37 8 131826399 131826399 + Silent SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 131826399 131826399 C G SNP ADCY8 ENST00000286355 human ensembl 70_37 -1 known silent c.2829 p.L943 1.000 smart_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 ADCY8 HGNC AFAP1L1 134265 genome.wustl.edu 37 5 148682038 148682038 + Nonsense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 148682038 148682038 G T SNP AFAP1L1 ENST00000296721 human ensembl 70_37 +1 known nonsense c.385 p.E129* 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L1 HGNC AGAP11 119385 genome.wustl.edu 37 10 88760503 88760503 + RNA SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 88760503 88760503 C G SNP AGAP11 ENST00000444431 human ensembl 70_37 +1 known rna NULL NULL 0.148 - - - no_errors AGAP11 HGNC AGPAT9 84803 genome.wustl.edu 37 4 84525961 84525961 + RNA SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 84525961 84525961 G C SNP AGPAT9 ENST00000509044 human ensembl 70_37 +1 putative rna NULL NULL 0.003 - - - no_errors AGPAT9 HGNC AHCTF1 25909 genome.wustl.edu 37 1 247024352 247024352 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 247024352 247024352 C T SNP AHCTF1 ENST00000326225 human ensembl 70_37 -1 known silent c.4008 p.P1336 0.791 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC AHNAK2 113146 genome.wustl.edu 37 14 105413073 105413073 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 14 105413073 105413073 C G SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known missense c.8715 p.K2905N 0.919 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC AKNA 80709 genome.wustl.edu 37 9 117119145 117119145 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 9 117119145 117119145 G A SNP AKNA ENST00000307564 human ensembl 70_37 -1 known silent c.2844 p.I948 0.993 NULL pfam_TF_AT-hook - no_errors AKNA HGNC AKR1C4 1109 genome.wustl.edu 37 10 5238643 5238643 + RNA SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 5238643 5238643 G A SNP AKR1C4 ENST00000469875 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AKR1C4 HGNC ALMS1 7840 genome.wustl.edu 37 2 73676904 73676904 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 73676904 73676904 G A SNP ALMS1 ENST00000264448 human ensembl 70_37 +1 known missense c.3247 p.D1083N 0.130 NULL NULL - no_errors ALMS1 HGNC AMOTL2 51421 genome.wustl.edu 37 3 134080426 134080426 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 134080426 134080426 C T SNP AMOTL2 ENST00000249883 human ensembl 70_37 -1 known silent c.1503 p.E501 1.000 pfam_Angiomotin_C,prints_Angiomotin pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL2 HGNC ANGPTL5 253935 genome.wustl.edu 37 11 101771164 101771164 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 11 101771164 101771164 G A SNP ANGPTL5 ENST00000334289 human ensembl 70_37 -1 known silent c.658 p.L220 1.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPTL5 HGNC ANKHD1 54882 genome.wustl.edu 37 5 139889325 139889325 + Missense_Mutation SNP C C A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 139889325 139889325 C A SNP ANKHD1 ENST00000297183 human ensembl 70_37 +1 known missense c.3869 p.S1290Y 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ANKIB1 54467 genome.wustl.edu 37 7 91936908 91936908 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 91936908 91936908 G A SNP ANKIB1 ENST00000265742 human ensembl 70_37 +1 known missense c.424 p.D142N 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Znf_C6HC,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Znf_RING,smart_Znf_C6HC,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING - no_errors ANKIB1 HGNC ANO4 121601 genome.wustl.edu 37 12 101437344 101437344 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 101437344 101437344 C T SNP ANO4 ENST00000392977 human ensembl 70_37 +1 known silent c.1182 p.I394 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO4 HGNC AP1G1 164 genome.wustl.edu 37 16 71798269 71798269 + Nonsense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 71798269 71798269 G C SNP AP1G1 ENST00000433195 human ensembl 70_37 -1 known nonsense c.971 p.S324* 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app - no_errors AP1G1 HGNC AP5M1 55745 genome.wustl.edu 37 14 57740978 57740978 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 14 57740978 57740978 G A SNP AP5M1 ENST00000261558 human ensembl 70_37 +1 known missense c.91 p.E31K 1.000 NULL pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C - no_errors AP5M1 HGNC APC2 10297 genome.wustl.edu 37 19 1465202 1465202 + Silent SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 1465202 1465202 G C SNP APC2 ENST00000233607 human ensembl 70_37 +1 known silent c.1902 p.L634 0.997 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo - no_errors APC2 HGNC ARFIP1 27236 genome.wustl.edu 37 4 153832973 153832973 + RNA SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 153832973 153832973 G C SNP ARFIP1 ENST00000510497 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ARFIP1 HGNC ARHGEF10 9639 genome.wustl.edu 37 8 1774297 1774297 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 1774297 1774297 C T SNP ARHGEF10 ENST00000398564 human ensembl 70_37 +1 known silent c.21 p.L7 0.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ARHGEF12 23365 genome.wustl.edu 37 11 120291541 120291541 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 11 120291541 120291541 C T SNP ARHGEF12 ENST00000356641 human ensembl 70_37 +1 known silent c.222 p.F74 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ARHGEF18 23370 genome.wustl.edu 37 19 7528832 7528832 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 7528832 7528832 C T SNP ARHGEF18 ENST00000359920 human ensembl 70_37 +1 known missense c.2200 p.P734S 0.014 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF18 HGNC ARHGEF2 9181 genome.wustl.edu 37 1 155932757 155932757 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 155932757 155932757 G A SNP ARHGEF2 ENST00000368315 human ensembl 70_37 -1 known silent c.945 p.V315 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF2 HGNC ARHGEF5 7984 genome.wustl.edu 37 7 144060152 144060152 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 144060152 144060152 G C SNP ARHGEF5 ENST00000056217 human ensembl 70_37 +1 known missense c.390 p.Q130H 0.002 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF5 HGNC ARHGEF9 23229 genome.wustl.edu 37 X 63005020 63005020 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 X 63005020 63005020 C T SNP ARHGEF9 ENST00000437457 human ensembl 70_37 -1 known silent c.6 p.Q2 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 ARHGEF9 HGNC ARMCX4 100131755 genome.wustl.edu 37 X 100749262 100749262 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 X 100749262 100749262 G A SNP ARMCX4 ENST00000423738 human ensembl 70_37 +1 putative missense c.5686 p.E1896K 1.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX4 HGNC ARRDC5 645432 genome.wustl.edu 37 19 4891274 4891274 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 4891274 4891274 G A SNP ARRDC5 ENST00000381781 human ensembl 70_37 -1 known silent c.813 p.F271 0.811 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC5 HGNC ASB15 142685 genome.wustl.edu 37 7 123256536 123256536 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 123256536 123256536 G A SNP ASB15 ENST00000275699 human ensembl 70_37 +1 known silent c.279 p.E93 0.990 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB15 HGNC ASB3 51130 genome.wustl.edu 37 2 53897777 53897777 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 53897777 53897777 G C SNP ASB3 ENST00000352846 human ensembl 70_37 -1 known missense c.1534 p.L512V 1.000 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB3 HGNC ASPHD1 253982 genome.wustl.edu 37 16 29912347 29912347 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 29912347 29912347 G C SNP ASPHD1 ENST00000308748 human ensembl 70_37 +1 known missense c.55 p.E19Q 0.010 NULL pfam_Asp_Arg_b-Hydrxlase - no_errors ASPHD1 HGNC ASPM 259266 genome.wustl.edu 37 1 197112471 197112471 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 197112471 197112471 G A SNP ASPM ENST00000367409 human ensembl 70_37 -1 known missense c.911 p.S304L 0.994 NULL pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ATP8B4 79895 genome.wustl.edu 37 15 50152539 50152539 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 50152539 50152539 G C SNP ATP8B4 ENST00000284509 human ensembl 70_37 -1 known missense c.3431 p.S1144C 1.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B4 HGNC ATXN2 6311 genome.wustl.edu 37 12 111892862 111892862 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 111892862 111892862 G A SNP ATXN2 ENST00000542287 human ensembl 70_37 -1 putative missense c.3011 p.S1004L 0.008 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2 HGNC BAZ1B 9031 genome.wustl.edu 37 7 72922761 72922761 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 72922761 72922761 G A SNP BAZ1B ENST00000339594 human ensembl 70_37 -1 known silent c.265 p.L89 0.996 pfam_WSTF_Acf1_Cbp146,pfscan_WSTF_Acf1_Cbp146 pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC BCL2L13 23786 genome.wustl.edu 37 22 18138488 18138488 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 18138488 18138488 C G SNP BCL2L13 ENST00000317582 human ensembl 70_37 +1 known missense c.11 p.S4C 0.995 NULL pfam_Blc2_fam,pfscan_Bcl2-like - no_errors BCL2L13 HGNC BCMO1 53630 genome.wustl.edu 37 16 81295871 81295871 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 81295871 81295871 C T SNP BCMO1 ENST00000258168 human ensembl 70_37 +1 known silent c.454 p.L152 0.970 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCMO1 HGNC BCS1L 617 genome.wustl.edu 37 2 219526522 219526522 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 219526522 219526522 G A SNP BCS1L ENST00000359273 human ensembl 70_37 +1 known silent c.501 p.V167 1.000 pfam_BCS1_N pfam_BCS1_N,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors BCS1L HGNC BCS1L 617 genome.wustl.edu 37 2 219526572 219526572 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 219526572 219526572 G A SNP BCS1L ENST00000359273 human ensembl 70_37 +1 known missense c.551 p.R184H 1.000 pfam_BCS1_N pfam_BCS1_N,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors BCS1L HGNC BMI1 648 genome.wustl.edu 37 10 22618337 22618337 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 22618337 22618337 C T SNP BMI1 ENST00000376663 human ensembl 70_37 +1 known missense c.847 p.H283Y 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors BMI1 HGNC BPIFA4P 317716 genome.wustl.edu 37 20 31789380 31789380 + RNA SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 20 31789380 31789380 G C SNP BPIFA4P ENST00000375465 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors BPIFA4P HGNC BTN2A1 11120 genome.wustl.edu 37 6 26463496 26463496 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 26463496 26463496 C T SNP BTN2A1 ENST00000312541 human ensembl 70_37 +1 known missense c.455 p.S152L 0.495 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like - no_errors BTN2A1 HGNC C10orf12 26148 genome.wustl.edu 37 10 98742623 98742623 + Missense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 98742623 98742623 G T SNP C10orf12 ENST00000286067 human ensembl 70_37 +1 known missense c.1476 p.K492N 1.000 NULL NULL - no_errors C10orf12 HGNC C11orf34 349633 genome.wustl.edu 37 11 112119581 112119581 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 11 112119581 112119581 G A SNP C11orf34 ENST00000338832 human ensembl 70_37 -1 known missense c.565 p.P189S 0.095 NULL NULL - no_errors C11orf34 HGNC C11orf68 83638 genome.wustl.edu 37 11 65685220 65685220 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 11 65685220 65685220 G C SNP C11orf68 ENST00000438576 human ensembl 70_37 -1 known missense c.592 p.Q198E 0.953 pfam_DUF1917,superfamily_TIF_eIF4e-like_dom pfam_DUF1917,superfamily_TIF_eIF4e-like_dom - no_errors C11orf68 HGNC C14orf39 317761 genome.wustl.edu 37 14 60921816 60921816 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 14 60921816 60921816 G C SNP C14orf39 ENST00000321731 human ensembl 70_37 -1 known missense c.1406 p.S469C 0.993 NULL NULL - no_errors C14orf39 HGNC C16orf95 100506581 genome.wustl.edu 37 16 87339346 87339346 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 87339346 87339346 G A SNP C16orf95 ENST00000567970 human ensembl 70_37 -1 known missense c.680 p.P227L 0.183 NULL NULL - no_errors C16orf95 HGNC C16orf96 342346 genome.wustl.edu 37 16 4625056 4625056 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 4625056 4625056 C T SNP C16orf96 ENST00000444310 human ensembl 70_37 +1 known silent c.690 p.T230 0.000 NULL NULL - no_errors C16orf96 HGNC C17orf74 201243 genome.wustl.edu 37 17 7329892 7329892 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 7329892 7329892 G A SNP C17orf74 ENST00000574034 human ensembl 70_37 +1 putative missense c.244 p.V82I 0.001 NULL NULL - no_errors C17orf74 HGNC C1orf227 149643 genome.wustl.edu 37 1 213009360 213009360 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 213009360 213009360 C T SNP C1orf227 ENST00000332912 human ensembl 70_37 -1 known silent c.132 p.L44 0.020 NULL NULL - no_errors C1orf227 HGNC CAMK2A 815 genome.wustl.edu 37 5 149644551 149644551 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 149644551 149644551 C T SNP CAMK2A ENST00000398376 human ensembl 70_37 -1 known missense c.185 p.R62H 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_Ca/CaM-dep_prot_kinase-assoc,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 - no_errors CAMK2A HGNC CAPN8 388743 genome.wustl.edu 37 1 223842059 223842059 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 223842059 223842059 G C SNP CAPN8 ENST00000366872 human ensembl 70_37 -1 known missense c.280 p.R94G 0.989 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN8 HGNC CASK 8573 genome.wustl.edu 37 X 41524688 41524688 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 X 41524688 41524688 G A SNP CASK ENST00000378163 human ensembl 70_37 -1 known missense c.550 p.H184Y 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_Guanylate_kin,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Guanylate_kin - no_errors CASK HGNC CCDC135 84229 genome.wustl.edu 37 16 57741510 57741510 + Nonsense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 57741510 57741510 G T SNP CCDC135 ENST00000360716 human ensembl 70_37 +1 known nonsense c.997 p.E333* 0.019 NULL NULL - no_errors CCDC135 HGNC CCDC147 159686 genome.wustl.edu 37 10 106118345 106118345 + Nonsense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 106118345 106118345 C T SNP CCDC147 ENST00000369704 human ensembl 70_37 +1 known nonsense c.256 p.Q86* 1.000 NULL superfamily_Homeodomain-like - no_errors CCDC147 HGNC CCDC151 115948 genome.wustl.edu 37 19 11545671 11545671 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 11545671 11545671 C T SNP CCDC151 ENST00000356392 human ensembl 70_37 -1 known missense c.167 p.G56E 0.000 NULL NULL - no_errors CCDC151 HGNC CCDC6 8030 genome.wustl.edu 37 10 61566793 61566793 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 61566793 61566793 C T SNP CCDC6 ENST00000263102 human ensembl 70_37 -1 known missense c.891 p.M297I 1.000 pfam_DUF2046 pfam_DUF2046 - no_errors CCDC6 HGNC CCDC7 79741 genome.wustl.edu 37 10 32807383 32807383 + Nonsense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 32807383 32807383 G T SNP CCDC7 ENST00000277657 human ensembl 70_37 +1 known nonsense c.943 p.E315* 0.634 NULL NULL - no_errors CCDC7 HGNC CCNA2 890 genome.wustl.edu 37 4 122739202 122739202 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 122739202 122739202 G A SNP CCNA2 ENST00000274026 human ensembl 70_37 -1 known missense c.1247 p.S416L 0.894 pfam_Cyclin_C,superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNA2 HGNC CCNL1 57018 genome.wustl.edu 37 3 156870923 156870923 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 156870923 156870923 C T SNP CCNL1 ENST00000295926 human ensembl 70_37 -1 known missense c.511 p.D171N 1.000 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L - no_errors CCNL1 HGNC CDC42BPB 9578 genome.wustl.edu 37 14 103400107 103400107 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 14 103400107 103400107 G C SNP CDC42BPB ENST00000361246 human ensembl 70_37 -1 known missense c.5078 p.S1693C 1.000 NULL pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC CDC42BPB 9578 genome.wustl.edu 37 14 103400155 103400155 + Nonsense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 14 103400155 103400155 G C SNP CDC42BPB ENST00000361246 human ensembl 70_37 -1 known nonsense c.5030 p.S1677* 1.000 NULL pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC CDH23 64072 genome.wustl.edu 37 10 73269977 73269977 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 73269977 73269977 G A SNP CDH23 ENST00000224721 human ensembl 70_37 +1 known missense c.284 p.R95K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC CDK10 8558 genome.wustl.edu 37 16 89762071 89762071 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 89762071 89762071 G A SNP CDK10 ENST00000353379 human ensembl 70_37 +1 known missense c.1054 p.E352K 0.908 superfamily_Kinase-like_dom 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 - no_errors CDK10 HGNC CENPF 1063 genome.wustl.edu 37 1 214816201 214816201 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 214816201 214816201 C G SNP CENPF ENST00000366955 human ensembl 70_37 +1 known missense c.4520 p.S1507C 0.002 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd - no_errors CENPF HGNC CEP112 201134 genome.wustl.edu 37 17 63739336 63739336 + Splice_Site SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 63739336 63739336 C T SNP CEP112 ENST00000392769 human ensembl 70_37 -1 known splice_site c.2458-1 e22-1 1.000 - - - no_errors CEP112 HGNC CEP95 90799 genome.wustl.edu 37 17 62533224 62533224 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 62533224 62533224 G A SNP CEP95 ENST00000556440 human ensembl 70_37 +1 known silent c.2283 p.Q761 0.992 NULL superfamily_CH-domain - no_errors CEP95 HGNC CHAF1A 10036 genome.wustl.edu 37 19 4433403 4433403 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 4433403 4433403 C T SNP CHAF1A ENST00000301280 human ensembl 70_37 +1 known missense c.2540 p.S847L 0.175 NULL pfam_CAF1A,pfam_CAF-1_p150 - no_errors CHAF1A HGNC CHD5 26038 genome.wustl.edu 37 1 6214792 6214792 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 6214792 6214792 G A SNP CHD5 ENST00000262450 human ensembl 70_37 -1 known missense c.673 p.P225S 0.930 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC CISD3 284106 genome.wustl.edu 37 17 36890988 36890988 + RNA SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 36890988 36890988 G C SNP CISD3 ENST00000578573 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CISD3 HGNC CLCN1 1180 genome.wustl.edu 37 7 143018499 143018499 + Missense_Mutation SNP C C A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 143018499 143018499 C A SNP CLCN1 ENST00000343257 human ensembl 70_37 +1 known missense c.475 p.L159M 0.979 superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1 - no_errors CLCN1 HGNC CLCNKA 1187 genome.wustl.edu 37 1 16358720 16358720 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 16358720 16358720 C T SNP CLCNKA ENST00000331433 human ensembl 70_37 +1 known silent c.1779 p.I593 0.000 pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKA HGNC CLEC12A 160364 genome.wustl.edu 37 12 10134688 10134688 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 10134688 10134688 C T SNP CLEC12A ENST00000355690 human ensembl 70_37 +1 known missense c.631 p.R211C 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC12A HGNC CMPK2 129607 genome.wustl.edu 37 2 7003658 7003658 + Missense_Mutation SNP A A G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 7003658 7003658 A G SNP CMPK2 ENST00000458098 human ensembl 70_37 -1 known missense c.727 p.C243R 1.000 pirsf_UMP-CMP_kinase_mit pirsf_UMP-CMP_kinase_mit - no_errors CMPK2 HGNC CMYA5 202333 genome.wustl.edu 37 5 79034399 79034399 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 79034399 79034399 G A SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known missense c.9811 p.D3271N 1.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC CNIH3 149111 genome.wustl.edu 37 1 224918244 224918244 + Silent SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 224918244 224918244 G T SNP CNIH3 ENST00000272133 human ensembl 70_37 +1 known silent c.279 p.L93 0.997 pfam_Cornichon pfam_Cornichon - no_errors CNIH3 HGNC CNNM4 26504 genome.wustl.edu 37 2 97475253 97475253 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 97475253 97475253 G A SNP CNNM4 ENST00000377075 human ensembl 70_37 +1 known silent c.2327 p.*776 1.000 NULL pfam_DUF21,pfam_Cysta_beta_synth_core,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNNM4 HGNC COASY 80347 genome.wustl.edu 37 17 40715126 40715126 + Silent SNP C C A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 40715126 40715126 C A SNP COASY ENST00000590958 human ensembl 70_37 +1 known silent c.573 p.P191 0.000 NULL pfam_Depp_CoAkinase,pfam_Cytidylyltransf,tigrfam_Depp_CoAkinase - no_errors COASY HGNC COPS4 51138 genome.wustl.edu 37 4 83987636 83987636 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 83987636 83987636 C T SNP COPS4 ENST00000264389 human ensembl 70_37 +1 known missense c.932 p.S311F 1.000 pfam_PCI_dom,smart_PCI_dom pfam_PCI_dom,smart_PCI_dom - no_errors COPS4 HGNC CORO7-PAM16 100529144 genome.wustl.edu 37 16 4410478 4410478 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 4410478 4410478 G A SNP CORO7-PAM16 ENST00000572467 human ensembl 70_37 -1 known silent c.1989 p.V663 1.000 pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_Protein_transpt,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7-PAM16 HGNC CROCCP2 84809 genome.wustl.edu 37 1 16946164 16946164 + RNA SNP A A G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 16946164 16946164 A G SNP CROCCP2 ENST00000412962 human ensembl 70_37 -1 known rna NULL NULL 0.012 - - - no_errors CROCCP2 HGNC CRYGD 1421 genome.wustl.edu 37 2 208988953 208988953 + Silent SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 208988953 208988953 G C SNP CRYGD ENST00000264376 human ensembl 70_37 -1 known silent c.135 p.L45 1.000 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 CRYGD HGNC CSF2RB 1439 genome.wustl.edu 37 22 37333842 37333842 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 37333842 37333842 G A SNP CSF2RB ENST00000262825 human ensembl 70_37 +1 known silent c.2010 p.G670 0.001 pirsf_IL3_rcpt_beta pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_IL3_rcpt_beta,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC CSMD1 64478 genome.wustl.edu 37 8 3889497 3889497 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 3889497 3889497 G A SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known silent c.540 p.H180 0.406 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC CSMD3 114788 genome.wustl.edu 37 8 114031408 114031408 + Nonsense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 114031408 114031408 C T SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known nonsense c.918 p.W306* 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC CSPP1 79848 genome.wustl.edu 37 8 68062107 68062107 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 68062107 68062107 C T SNP CSPP1 ENST00000262210 human ensembl 70_37 +1 known silent c.2050 p.L684 1.000 NULL NULL - no_errors CSPP1 HGNC CTBP1 1487 genome.wustl.edu 37 4 1219224 1219224 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 1219224 1219224 C T SNP CTBP1 ENST00000290921 human ensembl 70_37 -1 known silent c.471 p.Q157 1.000 pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd - no_errors CTBP1 HGNC CX3CL1 6376 genome.wustl.edu 37 16 57416511 57416511 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 57416511 57416511 C T SNP CX3CL1 ENST00000006053 human ensembl 70_37 +1 known missense c.761 p.P254L 0.000 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_fractalkine_CX3CL1 - no_errors CX3CL1 HGNC DAGLA 747 genome.wustl.edu 37 11 61503241 61503241 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 11 61503241 61503241 G C SNP DAGLA ENST00000257215 human ensembl 70_37 +1 known missense c.1243 p.E415Q 1.000 pfam_Lipase_3 pfam_Lipase_3 - no_errors DAGLA HGNC DCST1 149095 genome.wustl.edu 37 1 155020577 155020577 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 155020577 155020577 G A SNP DCST1 ENST00000295542 human ensembl 70_37 +1 known silent c.1800 p.K600 0.994 NULL pfam_DC_STAMP-like,pfscan_Znf_RING - no_errors DCST1 HGNC DENND4A 10260 genome.wustl.edu 37 15 65983274 65983274 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 65983274 65983274 C T SNP DENND4A ENST00000443035 human ensembl 70_37 -1 known missense c.3655 p.E1219K 1.000 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,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC DENND4B 9909 genome.wustl.edu 37 1 153905691 153905691 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 153905691 153905691 G A SNP DENND4B ENST00000361217 human ensembl 70_37 -1 known silent c.3435 p.F1145 0.024 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 DGCR6L 85359 genome.wustl.edu 37 22 20302222 20302222 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 20302222 20302222 C T SNP DGCR6L ENST00000248879 human ensembl 70_37 -1 known silent c.639 p.Q213 0.001 NULL pfam_DGCR6 - no_errors DGCR6L HGNC DHX29 54505 genome.wustl.edu 37 5 54585104 54585104 + Nonsense_Mutation SNP C C A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 54585104 54585104 C A SNP DHX29 ENST00000251636 human ensembl 70_37 -1 known nonsense c.1060 p.E354* 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX29 HGNC DNAH10 196385 genome.wustl.edu 37 12 124359784 124359784 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 124359784 124359784 G A SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known missense c.7591 p.E2531K 0.999 pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC DNAH2 146754 genome.wustl.edu 37 17 7674219 7674219 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 7674219 7674219 C G SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known missense c.4330 p.L1444V 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC DNAH5 1767 genome.wustl.edu 37 5 13885200 13885200 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 13885200 13885200 G A SNP DNAH5 ENST00000265104 human ensembl 70_37 -1 known missense c.2881 p.H961Y 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC DNAJC2 27000 genome.wustl.edu 37 7 102956536 102956536 + Splice_Site SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 102956536 102956536 C T SNP DNAJC2 ENST00000379263 human ensembl 70_37 -1 known splice_site c.1428-1 e14-1 1.000 - - - no_errors DNAJC2 HGNC DNAJC5B 85479 genome.wustl.edu 37 8 66989059 66989059 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 66989059 66989059 G A SNP DNAJC5B ENST00000276570 human ensembl 70_37 +1 known missense c.284 p.G95E 1.000 prints_Hsp_DnaJ pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC5B HGNC DNAL4 10126 genome.wustl.edu 37 22 39175601 39175601 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 39175601 39175601 G C SNP DNAL4 ENST00000216068 human ensembl 70_37 -1 known missense c.171 p.I57M 1.000 pfam_Dynein_light_chain_typ-1/2,superfamily_Dynein_light_chain_typ-1/2 pfam_Dynein_light_chain_typ-1/2,superfamily_Dynein_light_chain_typ-1/2 - no_errors DNAL4 HGNC DOPEY1 23033 genome.wustl.edu 37 6 83846971 83846971 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 83846971 83846971 C T SNP DOPEY1 ENST00000349129 human ensembl 70_37 +1 known silent c.3210 p.L1070 0.861 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC DPP8 54878 genome.wustl.edu 37 15 65744405 65744405 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 65744405 65744405 G C SNP DPP8 ENST00000341861 human ensembl 70_37 -1 known missense c.2355 p.I785M 1.000 pfam_Peptidase_S9,pfam_X-Pro-like_dom pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP8 HGNC DSPP 1834 genome.wustl.edu 37 4 88536886 88536886 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 88536886 88536886 C T SNP DSPP ENST00000282478 human ensembl 70_37 +1 known silent c.3072 p.S1024 0.076 NULL NULL - no_errors DSPP HGNC DSTYK 25778 genome.wustl.edu 37 1 205128678 205128678 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 205128678 205128678 C T SNP DSTYK ENST00000367162 human ensembl 70_37 -1 known silent c.2235 p.L745 0.996 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DSTYK HGNC DUS3L 56931 genome.wustl.edu 37 19 5786512 5786512 + Missense_Mutation SNP T T A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 5786512 5786512 T A SNP DUS3L ENST00000309061 human ensembl 70_37 -1 known missense c.1528 p.M510L 0.994 pfam_tRNA_hU_synthase pfam_tRNA_hU_synthase - no_errors DUS3L HGNC DZIP1 22873 genome.wustl.edu 37 13 96293740 96293740 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 13 96293740 96293740 C G SNP DZIP1 ENST00000347108 human ensembl 70_37 -1 known missense c.406 p.E136Q 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DZIP1 HGNC ECE2 9718 genome.wustl.edu 37 3 183995182 183995182 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 183995182 183995182 G A SNP ECE2 ENST00000402825 human ensembl 70_37 +1 known missense c.760 p.D254N 0.987 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC EIF3D 8664 genome.wustl.edu 37 22 36907574 36907574 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 36907574 36907574 C G SNP EIF3D ENST00000216190 human ensembl 70_37 -1 known missense c.1609 p.E537Q 0.368 pirsf_EIF-3_zeta pfam_EIF-3_zeta,pirsf_EIF-3_zeta - no_errors EIF3D HGNC EIF3I 8668 genome.wustl.edu 37 1 32692106 32692106 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 32692106 32692106 G A SNP EIF3I ENST00000373586 human ensembl 70_37 +1 known missense c.503 p.G168E 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EIF3I HGNC ELF3 1999 genome.wustl.edu 37 1 201981365 201981365 + RNA SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 201981365 201981365 C T SNP ELF3 ENST00000490203 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ELF3 HGNC ELMO1 9844 genome.wustl.edu 37 7 37311454 37311454 + Nonsense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 37311454 37311454 G A SNP ELMO1 ENST00000310758 human ensembl 70_37 -1 known nonsense c.226 p.R76* 0.999 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC EMILIN3 90187 genome.wustl.edu 37 20 39991134 39991134 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 20 39991134 39991134 C G SNP EMILIN3 ENST00000332312 human ensembl 70_37 -1 known missense c.1075 p.E359Q 1.000 NULL pfam_EMI_domain,pfscan_EMI_domain - no_errors EMILIN3 HGNC ENO2 2026 genome.wustl.edu 37 12 7027274 7027274 + Silent SNP C C A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 7027274 7027274 C A SNP ENO2 ENST00000229277 human ensembl 70_37 +1 known silent c.615 p.T205 0.996 pfam_Enolase_C,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO2 HGNC ENSG00000161103 0 genome.wustl.edu 37 22 18841226 18841226 + RNA SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 18841226 18841226 C T SNP ENSG00000161103 ENST00000412938 human ensembl 70_37 +1 known rna NULL NULL 0.030 - - - no_errors AC008103.5 Clone_based_vega_gene ENSG00000166329 0 genome.wustl.edu 37 17 55822601 55822601 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 55822601 55822601 G A SNP ENSG00000166329 ENST00000299415 human ensembl 70_37 -1 putative silent c.33 p.L11 0.999 NULL NULL - no_errors AC007431.1 Clone_based_vega_gene ENSG00000187812 0 genome.wustl.edu 37 15 76074660 76074660 + RNA SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 76074660 76074660 G T SNP ENSG00000187812 ENST00000395215 human ensembl 70_37 +1 known rna NULL NULL 0.960 - - - no_errors RP11-24M17.5 Clone_based_vega_gene ENSG00000211530 0 genome.wustl.edu 37 6 72294885 72294885 + RNA SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 72294885 72294885 C T SNP ENSG00000211530 ENST00000390196 human ensembl 70_37 +1 novel rna NULL NULL 1.000 - - - no_errors AL354933.1 Clone_based_ensembl_gene ENSG00000225946 0 genome.wustl.edu 37 7 100608197 100608198 + RNA INS - - GGG TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 100608197 100608198 - GGG INS ENSG00000225946 ENST00000420080 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-395B7.2 Clone_based_vega_gene ENSG00000226145 0 genome.wustl.edu 37 17 16723983 16723983 + RNA SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 16723983 16723983 G A SNP ENSG00000226145 ENST00000417510 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC022596.6 Clone_based_vega_gene ENSG00000229400 0 genome.wustl.edu 37 1 224918072 224918072 + RNA SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 224918072 224918072 G A SNP ENSG00000229400 ENST00000431691 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-3L21.2 Clone_based_vega_gene ENSG00000234222 0 genome.wustl.edu 37 1 145507881 145507881 + RNA SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 145507881 145507881 G C SNP ENSG00000234222 ENST00000412239 human ensembl 70_37 -1 known rna NULL NULL 0.018 - - - no_errors RP11-315I20.1 Clone_based_vega_gene ENSG00000244758 0 genome.wustl.edu 37 7 31117 31117 + RNA SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 31117 31117 G A SNP ENSG00000244758 ENST00000469418 human ensembl 70_37 -1 known rna NULL NULL 0.062 - - - no_errors AC093627.6 Clone_based_vega_gene ENSG00000259648 0 genome.wustl.edu 37 14 68082425 68082425 + RNA SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 14 68082425 68082425 G C SNP ENSG00000259648 ENST00000559968 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-643G16.4 Clone_based_vega_gene ENSG00000259660 0 genome.wustl.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 102293062 102293064 CTC - DEL ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 1.000:1.000:0.999 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000266341 0 genome.wustl.edu 37 17 46138017 46138017 + RNA SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 46138017 46138017 G A SNP ENSG00000266341 ENST00000583349 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP5-890E16.4 Clone_based_vega_gene ENSG00000267395 0 genome.wustl.edu 37 19 46271268 46271268 + RNA SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 46271268 46271268 G C SNP ENSG00000267395 ENST00000590076 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC074212.6 Clone_based_vega_gene ENTPD8 377841 genome.wustl.edu 37 9 140330468 140330468 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 9 140330468 140330468 G A SNP ENTPD8 ENST00000371506 human ensembl 70_37 -1 known silent c.1047 p.F349 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD8 HGNC ENTPD8 377841 genome.wustl.edu 37 9 140330988 140330988 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 9 140330988 140330988 G A SNP ENTPD8 ENST00000371506 human ensembl 70_37 -1 known silent c.771 p.L257 0.475 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD8 HGNC ERAP1 51752 genome.wustl.edu 37 5 96112236 96112236 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 96112236 96112236 G C SNP ERAP1 ENST00000296754 human ensembl 70_37 -1 known missense c.2690 p.S897C 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ERAP1 HGNC ERBB2 2064 genome.wustl.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 37868208 37868208 C T SNP ERBB2 ENST00000269571 human ensembl 70_37 +1 known missense c.929 p.S310F 1.000 pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB2 HGNC ERCC6L2 375748 genome.wustl.edu 37 9 98643489 98643489 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 9 98643489 98643489 G A SNP ERCC6L2 ENST00000288985 human ensembl 70_37 +1 novel missense c.418 p.E140K 1.000 pfam_SNF2_N,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L2 HGNC FAM160B2 64760 genome.wustl.edu 37 8 21957333 21957333 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 21957333 21957333 G A SNP FAM160B2 ENST00000289921 human ensembl 70_37 +1 known missense c.1270 p.E424K 0.926 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160B2 HGNC FAM196B 100131897 genome.wustl.edu 37 5 169310802 169310802 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 169310802 169310802 G A SNP FAM196B ENST00000377365 human ensembl 70_37 -1 known missense c.101 p.S34F 1.000 NULL NULL - no_errors FAM196B HGNC FAM208A 23272 genome.wustl.edu 37 3 56667929 56667929 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 56667929 56667929 G A SNP FAM208A ENST00000493960 human ensembl 70_37 -1 putative missense c.2890 p.R964W 1.000 NULL pfam_DUF3715 - no_errors FAM208A HGNC FAM212B 55924 genome.wustl.edu 37 1 112270351 112270351 + Missense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 112270351 112270351 G T SNP FAM212B ENST00000357260 human ensembl 70_37 -1 known missense c.133 p.L45I 1.000 NULL NULL - no_errors FAM212B HGNC FAM217A 222826 genome.wustl.edu 37 6 4069315 4069315 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 4069315 4069315 G A SNP FAM217A ENST00000274673 human ensembl 70_37 -1 known missense c.1142 p.S381F 0.004 NULL NULL - no_errors FAM217A HGNC FBLN2 2199 genome.wustl.edu 37 3 13612026 13612026 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 13612026 13612026 G A SNP FBLN2 ENST00000404922 human ensembl 70_37 +1 known silent c.171 p.T57 0.002 NULL pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC FES 2242 genome.wustl.edu 37 15 91437206 91437206 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 91437206 91437206 C T SNP FES ENST00000328850 human ensembl 70_37 +1 known silent c.2244 p.I748 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_FCH,superfamily_Kinase-like_dom,superfamily_t-SNARE,smart_FCH,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH,pfscan_SH2,pfscan_Prot_kinase_cat_dom - no_errors FES HGNC FNDC7 163479 genome.wustl.edu 37 1 109264980 109264980 + Missense_Mutation SNP C C A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 109264980 109264980 C A SNP FNDC7 ENST00000271311 human ensembl 70_37 +1 known missense c.625 p.Q209K 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC7 HGNC FOSB 2354 genome.wustl.edu 37 19 45976112 45976112 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 45976112 45976112 C G SNP FOSB ENST00000353609 human ensembl 70_37 +1 known missense c.859 p.Q287E 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSB HGNC FOXM1 2305 genome.wustl.edu 37 12 2968332 2968332 + Silent SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 2968332 2968332 G C SNP FOXM1 ENST00000342628 human ensembl 70_37 -1 known silent c.1878 p.L626 0.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXM1 HGNC FREM3 166752 genome.wustl.edu 37 4 144616998 144616998 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 144616998 144616998 C T SNP FREM3 ENST00000329798 human ensembl 70_37 -1 putative missense c.4831 p.D1611N 0.992 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC FSCB 84075 genome.wustl.edu 37 14 44974138 44974138 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 14 44974138 44974138 G A SNP FSCB ENST00000340446 human ensembl 70_37 -1 known silent c.2053 p.L685 0.000 NULL NULL - no_errors FSCB HGNC GBP3 2635 genome.wustl.edu 37 1 89477668 89477668 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 89477668 89477668 C T SNP GBP3 ENST00000370481 human ensembl 70_37 -1 known missense c.911 p.R304K 1.000 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors GBP3 HGNC GGT1 2678 genome.wustl.edu 37 22 25023584 25023584 + Silent SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 25023584 25023584 C G SNP GGT1 ENST00000248923 human ensembl 70_37 +1 known silent c.1206 p.L402 0.998 pfam_GGT_peptidase,tigrfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase - no_errors GGT1 HGNC GLUD1 2746 genome.wustl.edu 37 10 88811555 88811555 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 88811555 88811555 C G SNP GLUD1 ENST00000277865 human ensembl 70_37 -1 known missense c.1630 p.E544Q 1.000 smart_Glu/Leu/Phe/Val_DH_C pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD1 HGNC GNRH2 2797 genome.wustl.edu 37 20 3026354 3026354 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 20 3026354 3026354 C T SNP GNRH2 ENST00000245983 human ensembl 70_37 +1 known missense c.335 p.P112L 0.000 NULL pfam_GnRH - no_errors GNRH2 HGNC GOLGA2P5 55592 genome.wustl.edu 37 12 100550804 100550804 + RNA SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 100550804 100550804 G C SNP GOLGA2P5 ENST00000397112 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GOLGA2B Clone_based_vega_gene GOLGA4 2803 genome.wustl.edu 37 3 37360673 37360673 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 37360673 37360673 G A SNP GOLGA4 ENST00000361924 human ensembl 70_37 +1 known missense c.1533 p.M511I 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC GOLGA6L10 647042 genome.wustl.edu 37 15 82637166 82637167 + Frame_Shift_Ins INS - - CCCTCTCC TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 82637166 82637167 - CCCTCTCC INS GOLGA6L10 ENST00000439287 human ensembl 70_37 -1 known frame_shift_ins c.920_919 p.E307fs 0.989:0.976 NULL NULL - no_errors GOLGA6L10 HGNC GPR45 11250 genome.wustl.edu 37 2 105859310 105859310 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 105859310 105859310 G A SNP GPR45 ENST00000258456 human ensembl 70_37 +1 known missense c.995 p.R332H 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR45 HGNC GPR98 84059 genome.wustl.edu 37 5 90106730 90106730 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 90106730 90106730 G A SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.15653 p.G5218E 0.994 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC GRIK5 2901 genome.wustl.edu 37 19 42558573 42558573 + Nonsense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 42558573 42558573 G A SNP GRIK5 ENST00000301218 human ensembl 70_37 -1 known nonsense c.955 p.R319* 0.998 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC GRIN2D 2906 genome.wustl.edu 37 19 48908030 48908030 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 48908030 48908030 G A SNP GRIN2D ENST00000263269 human ensembl 70_37 +1 known missense c.505 p.E169K 0.993 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2D HGNC HARBI1 283254 genome.wustl.edu 37 11 46637297 46637297 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 11 46637297 46637297 G C SNP HARBI1 ENST00000326737 human ensembl 70_37 -1 known missense c.491 p.S164C 1.000 pfam_Harbinger_derived_prot_plant pfam_Harbinger_derived_prot_plant - no_errors HARBI1 HGNC MROH7 374977 genome.wustl.edu 37 1 55145575 55145575 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 55145575 55145575 C T SNP HEATR8 ENST00000421030 human ensembl 70_37 +1 known silent c.2238 p.I746 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR8 HGNC HECA 51696 genome.wustl.edu 37 6 139487903 139487903 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 139487903 139487903 G C SNP HECA ENST00000367658 human ensembl 70_37 +1 known missense c.754 p.E252Q 1.000 NULL superfamily_Glycoside_hydrolase_SF - no_errors HECA HGNC HECTD4 283450 genome.wustl.edu 37 12 112681469 112681469 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 112681469 112681469 C T SNP HECTD4 ENST00000377560 human ensembl 70_37 -1 known silent c.4230 p.L1410 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC HECTD4 283450 genome.wustl.edu 37 12 112686184 112686184 + Silent SNP T T C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 112686184 112686184 T C SNP HECTD4 ENST00000377560 human ensembl 70_37 -1 known silent c.3567 p.L1189 0.836 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC HEPH 9843 genome.wustl.edu 37 X 65486316 65486316 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 X 65486316 65486316 G A SNP HEPH ENST00000519389 human ensembl 70_37 +1 known silent c.3441 p.V1147 0.107 NULL pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC HERC2P9 440248 genome.wustl.edu 37 15 28882584 28882584 + RNA SNP C C A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 28882584 28882584 C A SNP HERC2P9 ENST00000529353 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors HERC2P9 HGNC HES1 3280 genome.wustl.edu 37 3 193855740 193855740 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 193855740 193855740 C T SNP HES1 ENST00000232424 human ensembl 70_37 +1 known silent c.561 p.L187 0.966 NULL pfam_Orange,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom - no_errors HES1 HGNC HIST1H4I 8294 genome.wustl.edu 37 6 27107193 27107193 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 27107193 27107193 C T SNP HIST1H4I ENST00000354348 human ensembl 70_37 +1 known missense c.106 p.R36W 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4I HGNC HIVEP2 3097 genome.wustl.edu 37 6 143091947 143091947 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 143091947 143091947 G C SNP HIVEP2 ENST00000012134 human ensembl 70_37 -1 known missense c.3929 p.S1310C 0.872 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC HRC 3270 genome.wustl.edu 37 19 49656988 49656988 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 49656988 49656988 C G SNP HRC ENST00000252825 human ensembl 70_37 -1 known missense c.1507 p.E503Q 0.125 NULL pfam_Hist_rich_Ca-bd - no_errors HRC HGNC HRC 3270 genome.wustl.edu 37 19 49657295 49657295 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 49657295 49657295 C G SNP HRC ENST00000252825 human ensembl 70_37 -1 known missense c.1200 p.K400N 0.051 NULL pfam_Hist_rich_Ca-bd - no_errors HRC HGNC HTR4 3360 genome.wustl.edu 37 5 147845452 147845452 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 147845452 147845452 G A SNP HTR4 ENST00000314512 human ensembl 70_37 -1 known silent c.1113 p.F371 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt,prints_GPCR_Rhodpsn - no_errors HTR4 HGNC HUWE1 10075 genome.wustl.edu 37 X 53579732 53579732 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 X 53579732 53579732 C T SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known missense c.8617 p.D2873N 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC IMP4 92856 genome.wustl.edu 37 2 131103843 131103843 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 131103843 131103843 G A SNP IMP4 ENST00000259239 human ensembl 70_37 +1 known silent c.759 p.L253 0.985 pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix - no_errors IMP4 HGNC ING4 51147 genome.wustl.edu 37 12 6761909 6761909 + Missense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 6761909 6761909 G T SNP ING4 ENST00000396807 human ensembl 70_37 -1 known missense c.419 p.A140D 0.927 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING4 HGNC INTU 27152 genome.wustl.edu 37 4 128564836 128564836 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 128564836 128564836 G C SNP INTU ENST00000335251 human ensembl 70_37 +1 known missense c.307 p.E103Q 0.998 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors INTU HGNC IQCE 23288 genome.wustl.edu 37 7 2608599 2608599 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 2608599 2608599 G A SNP IQCE ENST00000402050 human ensembl 70_37 +1 known silent c.96 p.R32 0.311 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCE HGNC IQSEC2 23096 genome.wustl.edu 37 X 53272579 53272579 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 X 53272579 53272579 G A SNP IQSEC2 ENST00000396435 human ensembl 70_37 -1 known missense c.2824 p.R942W 0.774 superfamily_Sec7 pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7 - no_errors IQSEC2 HGNC ITGA1 3672 genome.wustl.edu 37 5 52223484 52223484 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 52223484 52223484 G A SNP ITGA1 ENST00000282588 human ensembl 70_37 +1 known missense c.2684 p.R895K 0.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA1 HGNC ITGA11 22801 genome.wustl.edu 37 15 68624304 68624304 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 68624304 68624304 C T SNP ITGA11 ENST00000315757 human ensembl 70_37 -1 known missense c.1663 p.D555N 1.000 pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA11 HGNC ITGA11 22801 genome.wustl.edu 37 15 68649528 68649528 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 68649528 68649528 C T SNP ITGA11 ENST00000315757 human ensembl 70_37 -1 known missense c.710 p.G237E 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA11 HGNC KCNA10 3744 genome.wustl.edu 37 1 111060863 111060863 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 111060863 111060863 C T SNP KCNA10 ENST00000369771 human ensembl 70_37 -1 known missense c.547 p.E183K 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA10 HGNC KCNA5 3741 genome.wustl.edu 37 12 5154481 5154481 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 5154481 5154481 G A SNP KCNA5 ENST00000252321 human ensembl 70_37 +1 known missense c.1168 p.G390R 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC KCNAB1 7881 genome.wustl.edu 37 3 155861124 155861124 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 155861124 155861124 G A SNP KCNAB1 ENST00000471742 human ensembl 70_37 +1 known missense c.157 p.E53K 0.585 NULL pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB1 HGNC KCTD3 51133 genome.wustl.edu 37 1 215760001 215760001 + Nonsense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 215760001 215760001 C T SNP KCTD3 ENST00000259154 human ensembl 70_37 +1 known nonsense c.790 p.Q264* 1.000 superfamily_WD40_repeat_dom pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors KCTD3 HGNC KIAA0100 9703 genome.wustl.edu 37 17 26970655 26970655 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 26970655 26970655 G A SNP KIAA0100 ENST00000005905 human ensembl 70_37 -1 known missense c.221 p.S74F 1.000 pfam_FMP27_N pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC KLB 152831 genome.wustl.edu 37 4 39448764 39448764 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 39448764 39448764 C T SNP KLB ENST00000257408 human ensembl 70_37 +1 known silent c.2418 p.L806 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KLB HGNC KLHDC7A 127707 genome.wustl.edu 37 1 18808487 18808487 + Missense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 18808487 18808487 G T SNP KLHDC7A ENST00000400664 human ensembl 70_37 +1 known missense c.1012 p.D338Y 0.000 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC KLHDC7A 127707 genome.wustl.edu 37 1 18808567 18808567 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 18808567 18808567 G C SNP KLHDC7A ENST00000400664 human ensembl 70_37 +1 known missense c.1092 p.E364D 0.791 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC KRT15 3866 genome.wustl.edu 37 17 39673157 39673157 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 39673157 39673157 C T SNP KRT15 ENST00000254043 human ensembl 70_37 -1 known missense c.641 p.R214Q 0.596 pfam_F,prints_Keratin_I pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT15 HGNC KRT36 8689 genome.wustl.edu 37 17 39644584 39644584 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 39644584 39644584 C G SNP KRT36 ENST00000328119 human ensembl 70_37 -1 known missense c.610 p.D204H 1.000 pfam_F,superfamily_Prefoldin,prints_Keratin_I pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT36 HGNC KRT6B 3854 genome.wustl.edu 37 12 52841348 52841348 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 52841348 52841348 G A SNP KRT6B ENST00000252252 human ensembl 70_37 -1 known silent c.1434 p.G478 0.786 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC KRT6B 3854 genome.wustl.edu 37 12 52842665 52842665 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 52842665 52842665 G A SNP KRT6B ENST00000252252 human ensembl 70_37 -1 known silent c.1164 p.I388 1.000 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC KRT76 51350 genome.wustl.edu 37 12 53170949 53170949 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 53170949 53170949 C T SNP KRT76 ENST00000332411 human ensembl 70_37 -1 known missense c.127 p.A43T 1.000 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT76 HGNC KYNU 8942 genome.wustl.edu 37 2 143799741 143799741 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 143799741 143799741 G A SNP KYNU ENST00000264170 human ensembl 70_37 +1 known silent c.1398 p.*466 0.000 NULL pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Kynureninase - no_errors KYNU HGNC LAMA2 3908 genome.wustl.edu 37 6 129612791 129612791 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 129612791 129612791 G A SNP LAMA2 ENST00000421865 human ensembl 70_37 +1 known missense c.2782 p.E928K 0.878 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,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 LAMA2 HGNC LAMA5 3911 genome.wustl.edu 37 20 60899537 60899537 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 20 60899537 60899537 C G SNP LAMA5 ENST00000252999 human ensembl 70_37 -1 known missense c.5603 p.G1868A 1.000 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_TNFR/NGFR_Cys_rich_reg pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,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,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC LAMC1 3915 genome.wustl.edu 37 1 183102564 183102564 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 183102564 183102564 C T SNP LAMC1 ENST00000258341 human ensembl 70_37 +1 known missense c.3728 p.S1243L 1.000 NULL pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC LAMTOR2 28956 genome.wustl.edu 37 1 156024646 156024646 + RNA SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 156024646 156024646 C T SNP LAMTOR2 ENST00000489664 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LAMTOR2 HGNC LAMTOR4 389541 genome.wustl.edu 37 7 99747121 99747121 + Splice_Site SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 99747121 99747121 G A SNP LAMTOR4 ENST00000341942 human ensembl 70_37 +1 known splice_site c.4-1 e2-1 0.998 - - - no_errors LAMTOR4 HGNC LARP4B 23185 genome.wustl.edu 37 10 876851 876851 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 876851 876851 C T SNP LARP4B ENST00000316157 human ensembl 70_37 -1 known missense c.817 p.D273N 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC LASP1 3927 genome.wustl.edu 37 17 37034359 37034359 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 37034359 37034359 C G SNP LASP1 ENST00000318008 human ensembl 70_37 +1 known missense c.90 p.F30L 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Nebulin_35r-motif,pfam_Znf_LIM,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Znf_LIM,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors LASP1 HGNC LCE1E 353135 genome.wustl.edu 37 1 152759813 152759824 + In_Frame_Del DEL CTCCCAAGTGCA CTCCCAAGTGCA - TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 CTCCCAAGTGCA CTCCCAAGTGCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 152759813 152759824 CTCCCAAGTGCA - DEL LCE1E ENST00000368770 human ensembl 70_37 +1 known in_frame_del c.38_49 p.TPKC17in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:0.993:0.980:0.785:0.777 NULL NULL - no_errors LCE1E HGNC LCE1E 353135 genome.wustl.edu 37 1 152759824 152759824 + Missense_Mutation SNP A A C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 152759824 152759824 A C SNP LCE1E ENST00000368770 human ensembl 70_37 +1 known missense c.49 p.T17P 0.777 NULL NULL - no_errors LCE1E HGNC LGALS3BP 3959 genome.wustl.edu 37 17 76970878 76970878 + Nonsense_Mutation SNP C C A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 76970878 76970878 C A SNP LGALS3BP ENST00000262776 human ensembl 70_37 -1 known nonsense c.268 p.E90* 0.519 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt pfam_Srcr_rcpt,pfam_BACK,superfamily_Srcr_rcpt-rel,superfamily_BTB/POZ_fold,smart_Srcr_rcpt-rel,smart_BACK,pfscan_BTB/POZ-like,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors LGALS3BP HGNC LGI4 163175 genome.wustl.edu 37 19 35625543 35625543 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 35625543 35625543 C T SNP LGI4 ENST00000310123 human ensembl 70_37 -1 known silent c.42 p.A14 0.000 NULL pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI4 HGNC LIMK2 3985 genome.wustl.edu 37 22 31674413 31674413 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 31674413 31674413 G A SNP LIMK2 ENST00000331728 human ensembl 70_37 +1 known missense c.1903 p.D635N 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK2 HGNC LOC100288570 100288570 genome.wustl.edu 37 2 111144433 111144433 + RNA SNP T T C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 111144433 111144433 T C SNP LOC100288570 ENST00000488671 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors RP13-1039J1.2 Clone_based_vega_gene LOC146880 146880 genome.wustl.edu 37 17 62746746 62746746 + RNA SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 62746746 62746746 C G SNP LOC146880 ENST00000400873 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors hsa-mir-6080 miRBase LOC400940 400940 genome.wustl.edu 37 2 6112096 6112096 + RNA SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 6112096 6112096 C G SNP LOC400940 ENST00000391666 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC073479.1 Clone_based_vega_gene LONRF1 91694 genome.wustl.edu 37 8 12594230 12594230 + Missense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 12594230 12594230 G T SNP LONRF1 ENST00000398246 human ensembl 70_37 -1 known missense c.1431 p.F477L 1.000 NULL pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF1 HGNC LPPR4 9890 genome.wustl.edu 37 1 99766487 99766487 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 99766487 99766487 G A SNP LPPR4 ENST00000370185 human ensembl 70_37 +1 known missense c.757 p.A253T 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR4 Uniprot_genename LRRC16A 55604 genome.wustl.edu 37 6 25452453 25452454 + RNA INS - - T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 25452453 25452454 - T INS LRRC16A ENST00000461945 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors LRRC16A HGNC LRRC24 441381 genome.wustl.edu 37 8 145747964 145747964 + Silent SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 145747964 145747964 G C SNP LRRC24 ENST00000529415 human ensembl 70_37 -1 known silent c.1437 p.L479 0.474 NULL pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRC24 HGNC LY86 9450 genome.wustl.edu 37 6 6649893 6649893 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 6649893 6649893 G A SNP LY86 ENST00000230568 human ensembl 70_37 +1 known missense c.388 p.E130K 0.025 pfam_MD-2_lipid-recog,superfamily_Ig_E-set,smart_MD-2_lipid-recog pfam_MD-2_lipid-recog,superfamily_Ig_E-set,smart_MD-2_lipid-recog - no_errors LY86 HGNC LYST 1130 genome.wustl.edu 37 1 235944211 235944211 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 235944211 235944211 C G SNP LYST ENST00000389793 human ensembl 70_37 -1 known missense c.5168 p.R1723T 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC MAGEA4 4103 genome.wustl.edu 37 X 151093052 151093052 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 X 151093052 151093052 C T SNP MAGEA4 ENST00000276344 human ensembl 70_37 +1 known missense c.916 p.R306C 0.000 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA4 HGNC MAN2B1 4125 genome.wustl.edu 37 19 12758053 12758053 + Missense_Mutation SNP T T G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 12758053 12758053 T G SNP MAN2B1 ENST00000456935 human ensembl 70_37 -1 known missense c.2917 p.N973H 0.000 pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC MAN2B1 4125 genome.wustl.edu 37 19 12758083 12758083 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 12758083 12758083 C T SNP MAN2B1 ENST00000456935 human ensembl 70_37 -1 known missense c.2887 p.E963K 0.000 pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC MAP1A 4130 genome.wustl.edu 37 15 43813757 43813757 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 43813757 43813757 C T SNP MAP1A ENST00000399453 human ensembl 70_37 +1 known missense c.86 p.S29L 1.000 NULL NULL - no_errors MAP1A HGNC MAP1A 4130 genome.wustl.edu 37 15 43815050 43815050 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 43815050 43815050 C G SNP MAP1A ENST00000399453 human ensembl 70_37 +1 known missense c.1379 p.S460C 0.971 NULL NULL - no_errors MAP1A HGNC MAP1A 4130 genome.wustl.edu 37 15 43815251 43815251 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 43815251 43815251 C T SNP MAP1A ENST00000399453 human ensembl 70_37 +1 known missense c.1580 p.S527L 1.000 NULL NULL - no_errors MAP1A HGNC MAPK15 225689 genome.wustl.edu 37 8 144802739 144802739 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 144802739 144802739 C T SNP MAPK15 ENST00000395108 human ensembl 70_37 +1 known missense c.743 p.S248L 0.000 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAPK15 HGNC MAPK15 225689 genome.wustl.edu 37 8 144803953 144803953 + Missense_Mutation SNP C C A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 144803953 144803953 C A SNP MAPK15 ENST00000338033 human ensembl 70_37 +1 known missense c.1361 p.S454Y 0.902 NULL 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 - no_errors MAPK15 HGNC MAPKAPK2 9261 genome.wustl.edu 37 1 206904053 206904053 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 206904053 206904053 G A SNP MAPKAPK2 ENST00000367103 human ensembl 70_37 +1 known missense c.712 p.E238K 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_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAPKAPK2 HGNC MAPT 4137 genome.wustl.edu 37 17 44068843 44068843 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 44068843 44068843 G A SNP MAPT ENST00000344290 human ensembl 70_37 +1 known silent c.1398 p.T466 0.736 NULL pfam_Tau/MAP_tubulin-bd_rpt,prints_Tau_protein - no_errors MAPT HGNC MAS1 4142 genome.wustl.edu 37 6 160328744 160328744 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 160328744 160328744 G A SNP MAS1 ENST00000252660 human ensembl 70_37 +1 known missense c.757 p.E253K 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Proto-oncogene_Mas pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Proto-oncogene_Mas,prints_GPCR_Rhodpsn - no_errors MAS1 HGNC MB21D2 151963 genome.wustl.edu 37 3 192517146 192517146 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 192517146 192517146 C G SNP MB21D2 ENST00000392452 human ensembl 70_37 -1 known missense c.505 p.D169H 1.000 NULL pfam_Mab-21_dom - no_errors MB21D2 HGNC MED12 9968 genome.wustl.edu 37 X 70341568 70341568 + Nonsense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 X 70341568 70341568 C T SNP MED12 ENST00000333646 human ensembl 70_37 +1 known nonsense c.1003 p.Q335* 1.000 pfam_Mediator_Med12_LCEWAV pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC MEF2D 4209 genome.wustl.edu 37 1 156444993 156444993 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 156444993 156444993 G A SNP MEF2D ENST00000348159 human ensembl 70_37 -1 known missense c.913 p.H305Y 1.000 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2D HGNC MEX3D 399664 genome.wustl.edu 37 19 1556729 1556729 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 1556729 1556729 G A SNP MEX3D ENST00000388824 human ensembl 70_37 -1 known silent c.789 p.A263 0.011 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3D HGNC MFI2 4241 genome.wustl.edu 37 3 196753546 196753546 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 196753546 196753546 C T SNP MFI2 ENST00000296350 human ensembl 70_37 -1 known missense c.289 p.E97K 1.000 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors MFI2 HGNC MICALL2 79778 genome.wustl.edu 37 7 1474750 1474750 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 1474750 1474750 C T SNP MICALL2 ENST00000297508 human ensembl 70_37 -1 known missense c.2625 p.M875I 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL2 HGNC MINK1 50488 genome.wustl.edu 37 17 4794980 4794980 + Nonsense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 4794980 4794980 G A SNP MINK1 ENST00000355280 human ensembl 70_37 +1 known nonsense c.1970 p.W657* 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MINK1 HGNC MIR376C 442913 genome.wustl.edu 37 14 101506099 101506099 + RNA SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 14 101506099 101506099 C T SNP MIR376C ENST00000459389 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR376C HGNC MIR425 494337 genome.wustl.edu 37 3 49057611 49057611 + RNA SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 49057611 49057611 G A SNP MIR425 ENST00000362162 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR425 HGNC MKI67 4288 genome.wustl.edu 37 10 129903836 129903836 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 129903836 129903836 C T SNP MKI67 ENST00000368654 human ensembl 70_37 -1 known missense c.6268 p.E2090K 0.000 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC MMS19 64210 genome.wustl.edu 37 10 99238091 99238091 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 99238091 99238091 G A SNP MMS19 ENST00000370782 human ensembl 70_37 -1 known silent c.318 p.I106 0.977 superfamily_ARM-type_fold pfam_Tscrpt_MMS19_N,superfamily_ARM-type_fold - no_errors MMS19 HGNC MMS22L 253714 genome.wustl.edu 37 6 97702483 97702483 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 97702483 97702483 G A SNP MMS22L ENST00000275053 human ensembl 70_37 -1 known missense c.1069 p.H357Y 1.000 NULL superfamily_ARM-type_fold - no_errors MMS22L HGNC MPHOSPH9 10198 genome.wustl.edu 37 12 123702952 123702952 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 123702952 123702952 C G SNP MPHOSPH9 ENST00000541076 human ensembl 70_37 -1 known missense c.511 p.E171Q 0.137 NULL superfamily_Prefoldin - no_errors MPHOSPH9 HGNC MPP1 4354 genome.wustl.edu 37 X 154020470 154020470 + Nonsense_Mutation SNP C C A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 X 154020470 154020470 C A SNP MPP1 ENST00000369534 human ensembl 70_37 -1 known nonsense c.193 p.E65* 1.000 superfamily_PDZ pfam_Guanylate_kin,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP1 HGNC MRPL15 29088 genome.wustl.edu 37 8 55060161 55060161 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 55060161 55060161 C G SNP MRPL15 ENST00000260102 human ensembl 70_37 +1 known missense c.773 p.T258S 0.102 NULL pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P - no_errors MRPL15 HGNC MRPL9 65005 genome.wustl.edu 37 1 151733963 151733963 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 151733963 151733963 C T SNP MRPL9 ENST00000368830 human ensembl 70_37 -1 known silent c.552 p.L184 0.998 NULL pfam_Ribosomal_L9_N,superfamily_Ribosomal_L9/RNase_H1_N - no_errors MRPL9 HGNC MSX1 4487 genome.wustl.edu 37 4 4864524 4864524 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 4864524 4864524 G A SNP MSX1 ENST00000382723 human ensembl 70_37 +1 known missense c.566 p.R189H 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors MSX1 HGNC MTCH1 23787 genome.wustl.edu 37 6 36949434 36949434 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 36949434 36949434 C T SNP MTCH1 ENST00000373627 human ensembl 70_37 -1 known silent c.336 p.P112 0.995 superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors MTCH1 HGNC MTO1 25821 genome.wustl.edu 37 6 74183257 74183257 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 74183257 74183257 G A SNP MTO1 ENST00000415954 human ensembl 70_37 +1 known silent c.705 p.L235 1.000 pfam_GIDA-rel,tigrfam_GidA pfam_GIDA-rel,pfam_FAD_bind_dom,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_GidA - no_errors MTO1 HGNC MUC12 10071 genome.wustl.edu 37 7 100637074 100637074 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 100637074 100637074 G A SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.3659 p.R1220H 0.000 NULL pfam_SEA - no_errors MUC12 HGNC MYH15 22989 genome.wustl.edu 37 3 108224626 108224626 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 108224626 108224626 C T SNP MYH15 ENST00000273353 human ensembl 70_37 -1 known missense c.199 p.E67K 0.679 pfam_Myosin_N pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC MYO6 4646 genome.wustl.edu 37 6 76596683 76596683 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 76596683 76596683 C G SNP MYO6 ENST00000369981 human ensembl 70_37 +1 known missense c.2630 p.S877C 1.000 NULL pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC MYO7A 4647 genome.wustl.edu 37 11 76892542 76892542 + Silent SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 11 76892542 76892542 C G SNP MYO7A ENST00000409709 human ensembl 70_37 +1 known silent c.2811 p.V937 1.000 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC MYT1L 23040 genome.wustl.edu 37 2 1820058 1820058 + RNA SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 1820058 1820058 G A SNP MYT1L ENST00000471668 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors MYT1L HGNC NAA16 79612 genome.wustl.edu 37 13 41936628 41936628 + RNA SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 13 41936628 41936628 G A SNP NAA16 ENST00000497143 human ensembl 70_37 +1 known rna NULL NULL 0.545 - - - no_errors NAA16 HGNC NARFL 64428 genome.wustl.edu 37 16 787284 787284 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 787284 787284 C T SNP NARFL ENST00000251588 human ensembl 70_37 -1 known missense c.208 p.D70N 1.000 superfamily_Fe_hydrogenase pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARFL HGNC NBAS 51594 genome.wustl.edu 37 2 15307270 15307270 + Nonsense_Mutation SNP C C A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 15307270 15307270 C A SNP NBAS ENST00000281513 human ensembl 70_37 -1 known nonsense c.7018 p.E2340* 0.000 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC NBPF12 149013 genome.wustl.edu 37 1 146408047 146408047 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 146408047 146408047 G C SNP NBPF12 ENST00000446760 human ensembl 70_37 +1 known missense c.868 p.E290Q 0.001 NULL pfam_NBPF_dom - no_errors NBPF12 HGNC NCOA6 23054 genome.wustl.edu 37 20 33328193 33328193 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 20 33328193 33328193 G A SNP NCOA6 ENST00000359003 human ensembl 70_37 -1 known missense c.5867 p.S1956F 1.000 NULL NULL - no_errors NCOA6 HGNC NDUFS3 4722 genome.wustl.edu 37 11 47602402 47602402 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 11 47602402 47602402 G A SNP NDUFS3 ENST00000263774 human ensembl 70_37 +1 known missense c.247 p.E83K 1.000 NULL pfam_NADH_UbQ_OxRdtase_30kDa_su,tigrfam_NADH_DH_suC - no_errors NDUFS3 HGNC NFKB1 4790 genome.wustl.edu 37 4 103518705 103518705 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 103518705 103518705 G A SNP NFKB1 ENST00000226574 human ensembl 70_37 +1 known silent c.1524 p.Q508 1.000 NULL pfam_RHD,pfam_Ankyrin_rpt,pfam_Death,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like,smart_IPT_TIG_rcpt,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_dor,prints_Ankyrin_rpt - no_errors NFKB1 HGNC NLRC3 197358 genome.wustl.edu 37 16 3594300 3594300 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 3594300 3594300 C G SNP NLRC3 ENST00000448023 human ensembl 70_37 -1 known missense c.2939 p.G980A 0.875 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC NLRP14 338323 genome.wustl.edu 37 11 7083724 7083724 + Nonsense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 11 7083724 7083724 C T SNP NLRP14 ENST00000299481 human ensembl 70_37 +1 known nonsense c.2965 p.Q989* 0.993 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP14 HGNC NOL3 8996 genome.wustl.edu 37 16 67208229 67208229 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 67208229 67208229 G C SNP NOL3 ENST00000568146 human ensembl 70_37 +1 known missense c.157 p.D53H 0.320 pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD - no_errors NOL3 HGNC NOTCH2 4853 genome.wustl.edu 37 1 120458453 120458453 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 120458453 120458453 G A SNP NOTCH2 ENST00000256646 human ensembl 70_37 -1 known missense c.6892 p.R2298W 0.981 pirsf_Notch,prints_Notch_2 pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC NPC1L1 29881 genome.wustl.edu 37 7 44561742 44561742 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 44561742 44561742 C T SNP NPC1L1 ENST00000289547 human ensembl 70_37 -1 known missense c.2737 p.E913K 0.001 NULL pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC NPIPA1 9284 genome.wustl.edu 37 16 15022324 15022324 + RNA SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 15022324 15022324 G C SNP NPIP ENST00000472413 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors NPIP HGNC NRXN1 9378 genome.wustl.edu 37 2 50573974 50573974 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 50573974 50573974 C T SNP NRXN1 ENST00000342183 human ensembl 70_37 -1 known silent c.114 p.P38 0.992 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Neurexin-like,pfscan_Laminin_G - no_errors NRXN1 HGNC NUMB 8650 genome.wustl.edu 37 14 73759577 73759577 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 14 73759577 73759577 G A SNP NUMB ENST00000355058 human ensembl 70_37 -1 known silent c.315 p.L105 1.000 pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pirsf_Numb/numb-like,pfscan_PTyr_interaction_dom pfam_Numb_domain,pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pirsf_Numb/numb-like,pfscan_PTyr_interaction_dom - no_errors NUMB HGNC NXPH3 11248 genome.wustl.edu 37 17 47656636 47656636 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 47656636 47656636 G C SNP NXPH3 ENST00000328741 human ensembl 70_37 +1 known missense c.733 p.D245H 0.122 pfam_NXPH/NXPE,pirsf_Neurexophilin pfam_NXPH/NXPE,pirsf_Neurexophilin - no_errors NXPH3 HGNC OBSCN 84033 genome.wustl.edu 37 1 228539032 228539032 + Missense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 228539032 228539032 G T SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.18430 p.D6144Y 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,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_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 OR11H12 440153 genome.wustl.edu 37 14 19377728 19377728 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 14 19377728 19377728 C T SNP OR11H12 ENST00000550708 human ensembl 70_37 +1 known silent c.135 p.L45 0.982 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H12 HGNC OR13C9 286362 genome.wustl.edu 37 9 107379792 107379792 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 9 107379792 107379792 C G SNP OR13C9 ENST00000259362 human ensembl 70_37 -1 known missense c.694 p.E232Q 0.248 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C9 HGNC OR1S1 219959 genome.wustl.edu 37 11 57982597 57982597 + Silent SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 11 57982597 57982597 C G SNP OR1S1 ENST00000309433 human ensembl 70_37 +1 known silent c.381 p.L127 0.000 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_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1S1 HGNC OR51D1 390038 genome.wustl.edu 37 11 4661050 4661050 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 11 4661050 4661050 C T SNP OR51D1 ENST00000357605 human ensembl 70_37 +1 known silent c.30 p.I10 0.007 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51D1 HGNC OR5L2 26338 genome.wustl.edu 37 11 55595001 55595001 + Silent SNP T T C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 11 55595001 55595001 T C SNP OR5L2 ENST00000378397 human ensembl 70_37 +1 known silent c.307 p.L103 0.006 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 OR5L2 HGNC OR6N1 128372 genome.wustl.edu 37 1 158735560 158735560 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 158735560 158735560 G A SNP OR6N1 ENST00000335094 human ensembl 70_37 -1 known silent c.913 p.L305 0.101 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6N1 HGNC OR6N1 128372 genome.wustl.edu 37 1 158735609 158735609 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 158735609 158735609 G A SNP OR6N1 ENST00000335094 human ensembl 70_37 -1 known silent c.864 p.F288 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6N1 HGNC OR6N1 128372 genome.wustl.edu 37 1 158736267 158736267 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 158736267 158736267 G A SNP OR6N1 ENST00000335094 human ensembl 70_37 -1 known missense c.206 p.S69L 0.005 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6N1 HGNC OR6N1 128372 genome.wustl.edu 37 1 158736386 158736386 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 158736386 158736386 G A SNP OR6N1 ENST00000335094 human ensembl 70_37 -1 known silent c.87 p.L29 0.002 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6N1 HGNC OSTM1 28962 genome.wustl.edu 37 6 108365368 108365368 + RNA SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 108365368 108365368 G C SNP OSTM1 ENST00000492130 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors OSTM1 HGNC OXLD1 339229 genome.wustl.edu 37 17 79632238 79632238 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 79632238 79632238 C T SNP OXLD1 ENST00000374741 human ensembl 70_37 -1 known missense c.437 p.G146E 0.000 NULL pfam_Oxidoreductase-like_N - no_errors OXLD1 HGNC PARD6B 84612 genome.wustl.edu 37 20 49366649 49366649 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 20 49366649 49366649 C T SNP PARD6B ENST00000371610 human ensembl 70_37 +1 known missense c.743 p.P248L 1.000 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ - no_errors PARD6B HGNC PBX1 5087 genome.wustl.edu 37 1 164761826 164761826 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 164761826 164761826 G C SNP PBX1 ENST00000420696 human ensembl 70_37 +1 known missense c.361 p.E121Q 1.000 pfam_PBX pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PBX1 HGNC PCDH15 65217 genome.wustl.edu 37 10 55582734 55582734 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 55582734 55582734 C T SNP PCDH15 ENST00000320301 human ensembl 70_37 -1 known silent c.4752 p.L1584 0.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC PCDHB4 56131 genome.wustl.edu 37 5 140501901 140501901 + Silent SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 140501901 140501901 G T SNP PCDHB4 ENST00000194152 human ensembl 70_37 +1 known silent c.321 p.V107 0.011 pfam_Cadherin_N pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC PCED1B 91523 genome.wustl.edu 37 12 47629918 47629918 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 47629918 47629918 G A SNP PCED1B ENST00000432328 human ensembl 70_37 +1 known missense c.1072 p.D358N 0.003 NULL superfamily_Esterase_SGNH_hydro-type - no_errors PCED1B HGNC PCGF3 10336 genome.wustl.edu 37 4 728784 728784 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 728784 728784 G A SNP PCGF3 ENST00000362003 human ensembl 70_37 +1 known silent c.174 p.V58 0.989 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF3 HGNC PCSK2 5126 genome.wustl.edu 37 20 17434536 17434536 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 20 17434536 17434536 G C SNP PCSK2 ENST00000262545 human ensembl 70_37 +1 known missense c.1035 p.E345D 1.000 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK2 HGNC PDE4DIP 9659 genome.wustl.edu 37 1 144952297 144952297 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 144952297 144952297 G A SNP PDE4DIP ENST00000369356 human ensembl 70_37 -1 known missense c.422 p.S141L 0.168 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC PDZRN3 23024 genome.wustl.edu 37 3 73450114 73450114 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 73450114 73450114 C T SNP PDZRN3 ENST00000263666 human ensembl 70_37 -1 known missense c.1213 p.D405N 0.998 NULL pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC PECR 55825 genome.wustl.edu 37 2 216930051 216930051 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 216930051 216930051 G A SNP PECR ENST00000265322 human ensembl 70_37 -1 known silent c.408 p.F136 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_DHB_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_NADP_OxRdtase_F420,prints_Glc/ribitol_DH,prints_DHB_DH - no_errors PECR HGNC PGK1 5230 genome.wustl.edu 37 X 77378488 77378488 + RNA SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 X 77378488 77378488 G A SNP PGK1 ENST00000474281 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PGK1 HGNC PHF13 148479 genome.wustl.edu 37 1 6680211 6680211 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 6680211 6680211 C T SNP PHF13 ENST00000377648 human ensembl 70_37 +1 known missense c.490 p.P164S 0.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF13 HGNC PIGG 54872 genome.wustl.edu 37 4 493078 493078 + RNA SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 493078 493078 G T SNP PIGG ENST00000502311 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PIGG HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 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 PKD2L1 9033 genome.wustl.edu 37 10 102057296 102057296 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 102057296 102057296 C T SNP PKD2L1 ENST00000318222 human ensembl 70_37 -1 known missense c.799 p.G267R 1.000 pfam_PKD1_2_channel pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2L1 HGNC PLEKHG1 57480 genome.wustl.edu 37 6 151089860 151089860 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 151089860 151089860 C T SNP PLEKHG1 ENST00000358517 human ensembl 70_37 +1 known silent c.498 p.I166 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC PLEKHH1 57475 genome.wustl.edu 37 14 68042668 68042668 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 14 68042668 68042668 C G SNP PLEKHH1 ENST00000329153 human ensembl 70_37 +1 known missense c.2298 p.I766M 0.998 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH1 HGNC PNPLA8 50640 genome.wustl.edu 37 7 108136892 108136892 + RNA SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 108136892 108136892 C G SNP PNPLA8 ENST00000483879 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PNPLA8 HGNC POLR2C 5432 genome.wustl.edu 37 16 57496672 57496672 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 57496672 57496672 G A SNP POLR2C ENST00000219252 human ensembl 70_37 +1 known silent c.36 p.T12 0.910 superfamily_DNA-dir_RNA_pol_RBP11-like pfam_DNA-dir_RNA_pol_insert,pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_insert,superfamily_DNA-dir_RNA_pol_RBP11-like,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 - no_errors POLR2C HGNC POLR2C 5432 genome.wustl.edu 37 16 57496673 57496673 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 57496673 57496673 G A SNP POLR2C ENST00000219252 human ensembl 70_37 +1 known missense c.37 p.E13K 1.000 superfamily_DNA-dir_RNA_pol_RBP11-like pfam_DNA-dir_RNA_pol_insert,pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_insert,superfamily_DNA-dir_RNA_pol_RBP11-like,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 - no_errors POLR2C HGNC POLR3B 55703 genome.wustl.edu 37 12 106773811 106773811 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 106773811 106773811 C G SNP POLR3B ENST00000228347 human ensembl 70_37 +1 known missense c.617 p.S206C 1.000 pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5 - no_errors POLR3B HGNC POTEH 23784 genome.wustl.edu 37 22 16287509 16287509 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 16287509 16287509 G C SNP POTEH ENST00000343518 human ensembl 70_37 -1 known missense c.377 p.S126C 0.005 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEH HGNC PPFIA3 8541 genome.wustl.edu 37 19 49652868 49652868 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 49652868 49652868 G A SNP PPFIA3 ENST00000334186 human ensembl 70_37 +1 known missense c.3419 p.R1140Q 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC PPP1R10 5514 genome.wustl.edu 37 6 30572132 30572132 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 30572132 30572132 C T SNP PPP1R10 ENST00000376511 human ensembl 70_37 -1 known missense c.1259 p.R420Q 1.000 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC PPP6R3 55291 genome.wustl.edu 37 11 68312351 68312351 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 11 68312351 68312351 G A SNP PPP6R3 ENST00000393799 human ensembl 70_37 +1 known silent c.273 p.Q91 1.000 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R3 HGNC PREPL 9581 genome.wustl.edu 37 2 44586667 44586667 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 44586667 44586667 C T SNP PREPL ENST00000260648 human ensembl 70_37 -1 known missense c.188 p.R63K 1.000 NULL pfam_Peptidase_S9,pfam_Peptidase_S9A_B_C_N,superfamily_Peptidase_S9A_B_C_N,prints_Peptidase_S9A - no_errors PREPL HGNC PRPF18 8559 genome.wustl.edu 37 10 13658486 13658486 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 13658486 13658486 G A SNP PRPF18 ENST00000378572 human ensembl 70_37 +1 known missense c.881 p.R294K 0.711 pfam_Prp18,superfamily_Prp18 pfam_Prp18,pfam_PRP4,superfamily_Prp18,smart_SFM - no_errors PRPF18 HGNC PRPF4 9128 genome.wustl.edu 37 9 116045017 116045017 + RNA SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 9 116045017 116045017 G C SNP PRPF4 ENST00000488937 human ensembl 70_37 +1 known rna NULL NULL 0.620 - - - no_errors PRPF4 HGNC PRRX1 5396 genome.wustl.edu 37 1 170699449 170699449 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 170699449 170699449 G A SNP PRRX1 ENST00000367760 human ensembl 70_37 +1 known missense c.631 p.E211K 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PRRX1 HGNC PSMD6 9861 genome.wustl.edu 37 3 64009002 64009002 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 64009002 64009002 G A SNP PSMD6 ENST00000295901 human ensembl 70_37 -1 known missense c.94 p.R32C 1.000 NULL pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom - no_errors PSMD6 HGNC PTENP1 11191 genome.wustl.edu 37 9 33676899 33676899 + RNA SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 9 33676899 33676899 G A SNP PTENP1 ENST00000532280 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PTENP1 HGNC PTH2R 5746 genome.wustl.edu 37 2 209224921 209224921 + RNA SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 209224921 209224921 G A SNP PTH2R ENST00000413482 human ensembl 70_37 +1 known rna NULL NULL 0.011 - - - no_errors PTH2R HGNC PTOV1-AS1 100506033 genome.wustl.edu 37 19 50342092 50342092 + RNA SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 50342092 50342092 G C SNP PTOV1-AS1 ENST00000596521 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors PTOV1-AS1 HGNC PTPRU 10076 genome.wustl.edu 37 1 29652207 29652207 + RNA SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 29652207 29652207 C G SNP PTPRU ENST00000465525 human ensembl 70_37 +1 known rna NULL NULL 0.857 - - - no_errors PTPRU HGNC PTTG2 10744 genome.wustl.edu 37 4 37962321 37962321 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 37962321 37962321 C G SNP PTTG2 ENST00000504686 human ensembl 70_37 +1 known missense c.266 p.S89C 0.016 pfam_Securin_separation_inhibitor pfam_Securin_separation_inhibitor - no_errors PTTG2 HGNC PXDNL 137902 genome.wustl.edu 37 8 52321474 52321474 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 52321474 52321474 C T SNP PXDNL ENST00000356297 human ensembl 70_37 -1 known missense c.2710 p.E904K 0.683 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like,prints_Haem_peroxidase_animal_subgr - no_errors PXDNL HGNC RAB11FIP1 80223 genome.wustl.edu 37 8 37729590 37729590 + Silent SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 37729590 37729590 G C SNP RAB11FIP1 ENST00000330843 human ensembl 70_37 -1 known silent c.2730 p.L910 0.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RAB11FIP1 HGNC RALGPS2 55103 genome.wustl.edu 37 1 178855222 178855222 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 178855222 178855222 G A SNP RALGPS2 ENST00000367635 human ensembl 70_37 +1 known missense c.1159 p.E387K 1.000 NULL pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS2 HGNC RAPGEF4 11069 genome.wustl.edu 37 2 173882163 173882163 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 173882163 173882163 C G SNP RAPGEF4 ENST00000397081 human ensembl 70_37 +1 known missense c.1939 p.L647V 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF4 HGNC RASSF2 9770 genome.wustl.edu 37 20 4764157 4764157 + RNA SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 20 4764157 4764157 G C SNP RASSF2 ENST00000478553 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RASSF2 HGNC RBL1 5933 genome.wustl.edu 37 20 35690616 35690616 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 20 35690616 35690616 C G SNP RBL1 ENST00000373664 human ensembl 70_37 -1 known missense c.954 p.E318D 1.000 NULL pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,pfam_Rb_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL1 HGNC RBM12B-AS1 55472 genome.wustl.edu 37 8 94752736 94752736 + Nonsense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 94752736 94752736 G T SNP RBM12B-AS1 ENST00000391680 human ensembl 70_37 +1 known nonsense c.256 p.E86* 0.000 NULL NULL - no_errors RBM12B-AS1 HGNC RBM5 10181 genome.wustl.edu 37 3 50138005 50138005 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 50138005 50138005 G C SNP RBM5 ENST00000347869 human ensembl 70_37 +1 known missense c.450 p.L150F 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM5 HGNC RBM6 10180 genome.wustl.edu 37 3 50095409 50095409 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 50095409 50095409 G A SNP RBM6 ENST00000266022 human ensembl 70_37 +1 known missense c.1942 p.E648K 0.999 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC RFX4 5992 genome.wustl.edu 37 12 107109195 107109195 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 107109195 107109195 C G SNP RFX4 ENST00000357881 human ensembl 70_37 +1 known missense c.1038 p.I346M 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX4 HGNC RNASEL 6041 genome.wustl.edu 37 1 182555233 182555233 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 182555233 182555233 C G SNP RNASEL ENST00000367559 human ensembl 70_37 -1 known missense c.709 p.E237Q 0.701 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KEN_RNase_activator,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_PUG-dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt - no_errors RNASEL HGNC RNF17 56163 genome.wustl.edu 37 13 25444740 25444740 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 13 25444740 25444740 C G SNP RNF17 ENST00000255324 human ensembl 70_37 +1 known missense c.4310 p.S1437C 0.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC RORA 6095 genome.wustl.edu 37 15 60803666 60803666 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 60803666 60803666 C T SNP RORA ENST00000261523 human ensembl 70_37 -1 known silent c.678 p.L226 0.940 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors RORA HGNC RPGR 6103 genome.wustl.edu 37 X 38180282 38180282 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 X 38180282 38180282 G A SNP RPGR ENST00000378505 human ensembl 70_37 -1 known missense c.308 p.T103I 1.000 superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC RSRC1 51319 genome.wustl.edu 37 3 157920935 157920935 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 157920935 157920935 G A SNP RSRC1 ENST00000295930 human ensembl 70_37 +1 known missense c.395 p.R132Q 0.031 NULL NULL - no_errors RSRC1 HGNC RTL1 388015 genome.wustl.edu 37 14 101348269 101348269 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 14 101348269 101348269 C T SNP RTL1 ENST00000534062 human ensembl 70_37 -1 known missense c.2857 p.D953N 1.000 NULL pfam_Retrotrans_gag,superfamily_Peptidase_aspartic - no_errors RTL1 HGNC RUFY1 80230 genome.wustl.edu 37 5 179013335 179013335 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 179013335 179013335 G C SNP RUFY1 ENST00000377001 human ensembl 70_37 +1 known missense c.1030 p.E344Q 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUFY1 HGNC SCLY 51540 genome.wustl.edu 37 2 239005466 239005466 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 239005466 239005466 G A SNP SCLY ENST00000254663 human ensembl 70_37 +1 known missense c.1157 p.R386Q 0.400 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cysteine_dSase_NifS pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cysteine_dSase_NifS - no_errors SCLY HGNC SCN11A 11280 genome.wustl.edu 37 3 38888598 38888598 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 38888598 38888598 C T SNP SCN11A ENST00000302328 human ensembl 70_37 -1 known missense c.4963 p.E1655K 0.880 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC SCN3A 6328 genome.wustl.edu 37 2 165956849 165956849 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 165956849 165956849 C G SNP SCN3A ENST00000283254 human ensembl 70_37 -1 known missense c.3929 p.R1310T 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC SDE2 163859 genome.wustl.edu 37 1 226180117 226180117 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 226180117 226180117 C G SNP SDE2 ENST00000272091 human ensembl 70_37 -1 known missense c.502 p.E168Q 1.000 NULL superfamily_Mopterin_synth/thiamin_S_b - no_errors SDE2 HGNC SEC14L2 23541 genome.wustl.edu 37 22 30793105 30793105 + RNA SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 30793105 30793105 G T SNP SEC14L2 ENST00000459728 human ensembl 70_37 +1 known rna NULL NULL 0.986 - - - no_errors SEC14L2 HGNC SEMA6A 57556 genome.wustl.edu 37 5 115822519 115822519 + Silent SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 115822519 115822519 G T SNP SEMA6A ENST00000257414 human ensembl 70_37 -1 known silent c.888 p.L296 0.695 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6A HGNC SEMG2 6407 genome.wustl.edu 37 20 43850898 43850898 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 20 43850898 43850898 G A SNP SEMG2 ENST00000372769 human ensembl 70_37 +1 known missense c.625 p.E209K 0.000 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG2 HGNC SENP5 205564 genome.wustl.edu 37 3 196613394 196613394 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 196613394 196613394 C T SNP SENP5 ENST00000323460 human ensembl 70_37 +1 known missense c.1342 p.L448F 0.486 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP5 HGNC SEPT6 23157 genome.wustl.edu 37 X 118763247 118763247 + RNA SNP A A T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 X 118763247 118763247 A T SNP SEPT6 ENST00000481072 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SEPT6 HGNC SEPT9 10801 genome.wustl.edu 37 17 75398515 75398515 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 75398515 75398515 G A SNP SEPT9 ENST00000427177 human ensembl 70_37 +1 known missense c.451 p.E151K 1.000 NULL pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1 - no_errors SEPT9 HGNC SERP1 27230 genome.wustl.edu 37 3 150264652 150264652 + RNA SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 150264652 150264652 C T SNP SERP1 ENST00000491195 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors SERP1 HGNC SERPINA3 12 genome.wustl.edu 37 14 95081043 95081043 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 14 95081043 95081043 C T SNP SERPINA3 ENST00000553947 human ensembl 70_37 +1 known silent c.340 p.L114 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA3 HGNC SERPINA5 5104 genome.wustl.edu 37 14 95053975 95053975 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 14 95053975 95053975 G A SNP SERPINA5 ENST00000329597 human ensembl 70_37 +1 known silent c.276 p.L92 0.031 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA5 HGNC SERPIND1 3053 genome.wustl.edu 37 22 21141329 21141329 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 21141329 21141329 G A SNP SERPIND1 ENST00000215727 human ensembl 70_37 +1 known missense c.1475 p.R492K 0.951 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2 - no_errors SERPIND1 HGNC SGOL2 151246 genome.wustl.edu 37 2 201437743 201437743 + Missense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 201437743 201437743 G T SNP SGOL2 ENST00000357799 human ensembl 70_37 +1 known missense c.2674 p.D892Y 0.062 NULL NULL - no_errors SGOL2 HGNC SHCBP1L 81626 genome.wustl.edu 37 1 182869349 182869349 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 182869349 182869349 C T SNP SHCBP1L ENST00000367547 human ensembl 70_37 -1 known silent c.1731 p.L577 0.998 superfamily_Pectin_lyase_fold/virulence,smart_PbH1 superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 - no_errors SHCBP1L HGNC SIGLEC22P 114195 genome.wustl.edu 37 19 51715073 51715073 + RNA SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 51715073 51715073 C T SNP SIGLEC22P ENST00000602065 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SIGLEC22P HGNC SIGLEC5 8778 genome.wustl.edu 37 19 52115604 52115604 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 52115604 52115604 C T SNP SIGLEC5 ENST00000222107 human ensembl 70_37 -1 known silent c.1536 p.L512 0.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC5 HGNC SIGLEC9 27180 genome.wustl.edu 37 19 51631765 51631765 + Nonsense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 51631765 51631765 C T SNP SIGLEC9 ENST00000440804 human ensembl 70_37 +1 known nonsense c.1201 p.Q401* 0.106 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like - no_errors SIGLEC9 HGNC SIX5 147912 genome.wustl.edu 37 19 46268897 46268897 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 46268897 46268897 C T SNP SIX5 ENST00000317578 human ensembl 70_37 -1 known silent c.2082 p.L694 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX5 HGNC SIX5 147912 genome.wustl.edu 37 19 46268958 46268958 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 46268958 46268958 C T SNP SIX5 ENST00000317578 human ensembl 70_37 -1 known missense c.2021 p.G674E 0.042 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX5 HGNC SIX5 147912 genome.wustl.edu 37 19 46270372 46270372 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 46270372 46270372 C T SNP SIX5 ENST00000317578 human ensembl 70_37 -1 known missense c.845 p.R282Q 0.671 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX5 HGNC SIX5 147912 genome.wustl.edu 37 19 46271604 46271604 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 46271604 46271604 C T SNP SIX5 ENST00000317578 human ensembl 70_37 -1 known missense c.499 p.A167T 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX5 HGNC SLC12A1 6557 genome.wustl.edu 37 15 48584057 48584057 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 48584057 48584057 G A SNP SLC12A1 ENST00000380993 human ensembl 70_37 +1 known missense c.2956 p.E986K 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A1 HGNC SLC15A4 121260 genome.wustl.edu 37 12 129299439 129299439 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 129299439 129299439 G A SNP SLC15A4 ENST00000266771 human ensembl 70_37 -1 known silent c.723 p.L241 0.993 pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC15A4 HGNC SLC16A5 9121 genome.wustl.edu 37 17 73096055 73096055 + RNA SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 73096055 73096055 G A SNP SLC16A5 ENST00000582048 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC16A5 HGNC SLC18A1 6570 genome.wustl.edu 37 8 20004823 20004823 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 20004823 20004823 G A SNP SLC18A1 ENST00000276373 human ensembl 70_37 -1 known silent c.1410 p.V470 0.130 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R - no_errors SLC18A1 HGNC SLC19A3 80704 genome.wustl.edu 37 2 228552884 228552884 + Nonsense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 228552884 228552884 G A SNP SLC19A3 ENST00000258403 human ensembl 70_37 -1 known nonsense c.1312 p.Q438* 1.000 pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A3 HGNC SLC25A32 81034 genome.wustl.edu 37 8 104413815 104413815 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 104413815 104413815 G A SNP SLC25A32 ENST00000297578 human ensembl 70_37 -1 known silent c.741 p.V247 0.989 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_uncoupling - no_errors SLC25A32 HGNC SLC25A41 284427 genome.wustl.edu 37 19 6433595 6433595 + Missense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 6433595 6433595 G T SNP SLC25A41 ENST00000321510 human ensembl 70_37 -1 known missense c.110 p.P37H 0.068 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A41 HGNC SLC25A44 9673 genome.wustl.edu 37 1 156163946 156163946 + RNA SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 156163946 156163946 C T SNP SLC25A44 ENST00000468973 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SLC25A44 HGNC SLC2A12 154091 genome.wustl.edu 37 6 134350293 134350293 + Missense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 134350293 134350293 G T SNP SLC2A12 ENST00000275230 human ensembl 70_37 -1 known missense c.670 p.L224M 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt - no_errors SLC2A12 HGNC SLC44A2 57153 genome.wustl.edu 37 19 10754060 10754060 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 10754060 10754060 G A SNP SLC44A2 ENST00000335757 human ensembl 70_37 +1 known silent c.2120 p.*707 0.494 NULL pfam_Choline_transptr-like - no_errors SLC44A2 HGNC SLC9A2 6549 genome.wustl.edu 37 2 103322309 103322309 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 103322309 103322309 C T SNP SLC9A2 ENST00000233969 human ensembl 70_37 +1 known missense c.1982 p.S661F 0.999 NULL pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A2 HGNC SLFN14 342618 genome.wustl.edu 37 17 33879989 33879989 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 33879989 33879989 G C SNP SLFN14 ENST00000415846 human ensembl 70_37 -1 known missense c.1664 p.S555C 0.127 NULL pfam_ATPase_AAA-4 - no_errors SLFN14 HGNC SLFNL1 200172 genome.wustl.edu 37 1 41486318 41486318 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 41486318 41486318 C T SNP SLFNL1 ENST00000302946 human ensembl 70_37 -1 known silent c.15 p.K5 0.962 NULL pfam_ATPase_AAA-4 - no_errors SLFNL1 HGNC SMEK2 57223 genome.wustl.edu 37 2 55844379 55844379 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 55844379 55844379 C T SNP SMEK2 ENST00000272313 human ensembl 70_37 -1 known missense c.43 p.E15K 1.000 NULL pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK2 HGNC SNX15 29907 genome.wustl.edu 37 11 64807250 64807250 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 11 64807250 64807250 C G SNP SNX15 ENST00000377244 human ensembl 70_37 +1 known missense c.1015 p.Q339E 0.021 smart_MIT pfam_MIT,pfam_Phox,superfamily_Phox,smart_Phox,smart_MIT,pfscan_Phox - no_errors SNX15 HGNC SON 6651 genome.wustl.edu 37 21 34926794 34926794 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 21 34926794 34926794 G C SNP SON ENST00000356577 human ensembl 70_37 +1 known missense c.5257 p.E1753Q 0.900 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_Ds-RNA-bd - no_errors SON HGNC SOX17 64321 genome.wustl.edu 37 8 55371672 55371673 + In_Frame_Ins INS - - AGA TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 55371672 55371673 - AGA INS SOX17 ENST00000297316 human ensembl 70_37 +1 known in_frame_ins c.362_363 p.123in_frame_insE 1.000:0.996 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_Sox_C_TAD,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX17 HGNC SPAG17 200162 genome.wustl.edu 37 1 118526482 118526482 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 118526482 118526482 C G SNP SPAG17 ENST00000336338 human ensembl 70_37 -1 known missense c.5824 p.E1942Q 0.004 NULL NULL - no_errors SPAG17 HGNC SPATS2 65244 genome.wustl.edu 37 12 49888630 49888630 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 49888630 49888630 C T SNP SPATS2 ENST00000321898 human ensembl 70_37 +1 known missense c.371 p.S124L 0.995 pfam_DUF1387 pfam_DUF1387,superfamily_UBA-like - no_errors SPATS2 HGNC SPATS2 65244 genome.wustl.edu 37 12 49919880 49919880 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 49919880 49919880 C G SNP SPATS2 ENST00000321898 human ensembl 70_37 +1 known missense c.1480 p.Q494E 0.886 NULL pfam_DUF1387,superfamily_UBA-like - no_errors SPATS2 HGNC SPG7 6687 genome.wustl.edu 37 16 89623345 89623345 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 89623345 89623345 G A SNP SPG7 ENST00000268704 human ensembl 70_37 +1 known silent c.2232 p.E744 1.000 pfam_Peptidase_M41,tigrfam_FtsH pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase,tigrfam_FtsH - no_errors SPG7 HGNC SPSB2 84727 genome.wustl.edu 37 12 6981681 6981681 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 6981681 6981681 C T SNP SPSB2 ENST00000523102 human ensembl 70_37 -1 known missense c.385 p.E129K 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C - no_errors SPSB2 HGNC SRGAP1 57522 genome.wustl.edu 37 12 64410757 64410757 + Nonsense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 64410757 64410757 G T SNP SRGAP1 ENST00000355086 human ensembl 70_37 +1 known nonsense c.454 p.E152* 1.000 NULL pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC SRPK2 6733 genome.wustl.edu 37 7 104809665 104809665 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 104809665 104809665 G A SNP SRPK2 ENST00000393651 human ensembl 70_37 -1 known missense c.277 p.H93Y 1.000 pfam_Prot_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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors SRPK2 HGNC SSH2 85464 genome.wustl.edu 37 17 27959008 27959008 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 27959008 27959008 C T SNP SSH2 ENST00000269033 human ensembl 70_37 -1 known silent c.3123 p.L1041 0.640 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 SSH2 HGNC ST3GAL1 6482 genome.wustl.edu 37 8 134488145 134488145 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 134488145 134488145 C T SNP ST3GAL1 ENST00000319914 human ensembl 70_37 -1 known silent c.123 p.Q41 0.681 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL1 HGNC STAT4 6775 genome.wustl.edu 37 2 191922751 191922751 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 191922751 191922751 C T SNP STAT4 ENST00000358470 human ensembl 70_37 -1 known missense c.1199 p.R400Q 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT4 HGNC STK36 27148 genome.wustl.edu 37 2 219563736 219563736 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 219563736 219563736 C T SNP STK36 ENST00000295709 human ensembl 70_37 +1 known silent c.3469 p.L1157 0.986 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK36 HGNC STX11 8676 genome.wustl.edu 37 6 144508280 144508280 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 144508280 144508280 C T SNP STX11 ENST00000367568 human ensembl 70_37 +1 known silent c.516 p.V172 0.989 superfamily_t-SNARE pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX11 HGNC SUN2 25777 genome.wustl.edu 37 22 39144780 39144780 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 39144780 39144780 G A SNP SUN2 ENST00000216064 human ensembl 70_37 -1 known missense c.623 p.S208L 0.982 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN2 HGNC SYNE2 23224 genome.wustl.edu 37 14 64593336 64593336 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 14 64593336 64593336 G A SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known silent c.13728 p.K4576 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC SYT14 255928 genome.wustl.edu 37 1 210194437 210194437 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 210194437 210194437 G A SNP SYT14 ENST00000422431 human ensembl 70_37 +1 known missense c.415 p.E139K 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYT14 HGNC SYT3 84258 genome.wustl.edu 37 19 51133404 51133404 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 51133404 51133404 G A SNP SYT3 ENST00000338916 human ensembl 70_37 -1 known silent c.699 p.L233 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT3 HGNC TAF1L 138474 genome.wustl.edu 37 9 32631089 32631089 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 9 32631089 32631089 C T SNP TAF1L ENST00000242310 human ensembl 70_37 -1 known missense c.4489 p.D1497N 1.000 pirsf_TAF1_animal,superfamily_Bromodomain,smart_Bromodomain pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC TAF1L 138474 genome.wustl.edu 37 9 32631755 32631755 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 9 32631755 32631755 C G SNP TAF1L ENST00000242310 human ensembl 70_37 -1 known missense c.3823 p.E1275Q 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC TAF1L 138474 genome.wustl.edu 37 9 32634881 32634881 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 9 32634881 32634881 C T SNP TAF1L ENST00000242310 human ensembl 70_37 -1 known missense c.697 p.G233R 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC TAP2 6891 genome.wustl.edu 37 6 32798442 32798442 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 32798442 32798442 C T SNP TAP2 ENST00000374897 human ensembl 70_37 -1 known missense c.1414 p.D472N 0.028 pfscan_ABC_transporter-like,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_ABC_B3,prints_ABC_B2,tigrfam_Ag_transporter2 - no_errors TAP2 HGNC TBC1D10A 83874 genome.wustl.edu 37 22 30714650 30714650 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 30714650 30714650 C T SNP TBC1D10A ENST00000433426 human ensembl 70_37 -1 known silent c.6 p.E2 0.004 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10A HGNC TBC1D17 79735 genome.wustl.edu 37 19 50386048 50386048 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 50386048 50386048 G A SNP TBC1D17 ENST00000221543 human ensembl 70_37 +1 known missense c.826 p.E276K 0.649 NULL pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D17 HGNC TCEB3 6924 genome.wustl.edu 37 1 24082354 24082354 + Nonsense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 24082354 24082354 C T SNP TCEB3 ENST00000418390 human ensembl 70_37 +1 known nonsense c.1891 p.Q631* 1.000 pfam_RNA_pol_II_trans_fac_SIII_A,pfscan_F-box_dom_cyclin-like pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom_cyclin-like - no_errors TCEB3 HGNC TCF20 6942 genome.wustl.edu 37 22 42605914 42605914 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 42605914 42605914 G A SNP TCF20 ENST00000359486 human ensembl 70_37 -1 known missense c.5398 p.R1800W 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC TDRD1 56165 genome.wustl.edu 37 10 115947675 115947675 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 115947675 115947675 G C SNP TDRD1 ENST00000251864 human ensembl 70_37 +1 known missense c.85 p.E29Q 1.000 NULL pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC TECTA 7007 genome.wustl.edu 37 11 121031101 121031101 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 11 121031101 121031101 G A SNP TECTA ENST00000264037 human ensembl 70_37 +1 known silent c.4947 p.Q1649 1.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC TENM1 10178 genome.wustl.edu 37 X 123615768 123615768 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 X 123615768 123615768 C T SNP TENM1 ENST00000422452 human ensembl 70_37 -1 known missense c.3763 p.E1255K 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC TEX14 56155 genome.wustl.edu 37 17 56661914 56661914 + Nonsense_Mutation SNP C C A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 56661914 56661914 C A SNP TEX14 ENST00000240361 human ensembl 70_37 -1 known nonsense c.3136 p.E1046* 0.479 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors TEX14 HGNC TEX14 56155 genome.wustl.edu 37 17 56679877 56679877 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 56679877 56679877 C T SNP TEX14 ENST00000240361 human ensembl 70_37 -1 known missense c.1429 p.D477N 1.000 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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors TEX14 HGNC TFCP2 7024 genome.wustl.edu 37 12 51503033 51503033 + Missense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 51503033 51503033 G T SNP TFCP2 ENST00000257915 human ensembl 70_37 -1 known missense c.588 p.F196L 1.000 pfam_CP2 pfam_CP2,superfamily_SAM/pointed - no_errors TFCP2 HGNC TFPI2 7980 genome.wustl.edu 37 7 93519512 93519512 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 93519512 93519512 C T SNP TFPI2 ENST00000222543 human ensembl 70_37 -1 known missense c.208 p.E70K 0.089 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pirsf_Prot_inhib_I2_TFPI,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pirsf_Prot_inhib_I2_TFPI,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors TFPI2 HGNC THAP7 80764 genome.wustl.edu 37 22 21354544 21354544 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 21354544 21354544 C T SNP THAP7 ENST00000215742 human ensembl 70_37 -1 known silent c.555 p.Q185 0.994 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP7 HGNC TMEM145 284339 genome.wustl.edu 37 19 42820703 42820703 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 42820703 42820703 G A SNP TMEM145 ENST00000301204 human ensembl 70_37 +1 known silent c.717 p.V239 1.000 pfam_Rhodopsin-like_GPCR_TM_domain pfam_Rhodopsin-like_GPCR_TM_domain - no_errors TMEM145 HGNC TMEM246 84302 genome.wustl.edu 37 9 104238925 104238925 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 9 104238925 104238925 C T SNP TMEM246 ENST00000374847 human ensembl 70_37 -1 known silent c.450 p.V150 0.992 NULL NULL - no_errors TMEM246 HGNC TMEM42 131616 genome.wustl.edu 37 3 44905835 44905835 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 44905835 44905835 G A SNP TMEM42 ENST00000302392 human ensembl 70_37 +1 known silent c.339 p.S113 1.000 NULL NULL - no_errors TMEM42 HGNC TMOD1 7111 genome.wustl.edu 37 9 100326399 100326399 + Silent SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 9 100326399 100326399 G C SNP TMOD1 ENST00000259365 human ensembl 70_37 +1 known silent c.567 p.R189 0.985 NULL pfam_Tropomodulin - no_errors TMOD1 HGNC TNFRSF6B 8771 genome.wustl.edu 37 20 62328684 62328684 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 20 62328684 62328684 C T SNP TNFRSF6B ENST00000369996 human ensembl 70_37 +1 known missense c.428 p.T143I 0.980 smart_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF6B HGNC TNN 63923 genome.wustl.edu 37 1 175086232 175086232 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 175086232 175086232 G A SNP TNN ENST00000239462 human ensembl 70_37 +1 known silent c.2277 p.Q759 0.637 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3 - no_errors TNN HGNC TOPBP1 11073 genome.wustl.edu 37 3 133327481 133327481 + Missense_Mutation SNP C C A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 133327481 133327481 C A SNP TOPBP1 ENST00000260810 human ensembl 70_37 -1 known missense c.4323 p.L1441F 0.732 superfamily_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC TOPBP1 11073 genome.wustl.edu 37 3 133347213 133347213 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 3 133347213 133347213 C T SNP TOPBP1 ENST00000260810 human ensembl 70_37 -1 known missense c.2797 p.D933N 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC TRAPPC11 60684 genome.wustl.edu 37 4 184626182 184626182 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 184626182 184626182 C T SNP TRAPPC11 ENST00000334690 human ensembl 70_37 +1 known missense c.3014 p.P1005L 1.000 pfam_DUF1683_C pfam_Foie-gras_1,pfam_DUF1683_C - no_errors TRAPPC11 HGNC TTC28 23331 genome.wustl.edu 37 22 28389396 28389396 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 28389396 28389396 G A SNP TTC28 ENST00000397906 human ensembl 70_37 -1 novel silent c.5355 p.L1785 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC28 HGNC TTN 7273 genome.wustl.edu 37 2 179486627 179486627 + Nonsense_Mutation SNP C C A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 179486627 179486627 C A SNP TTN ENST00000342992 human ensembl 70_37 -1 known nonsense c.37318 p.E12440* 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179501396 179501396 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 179501396 179501396 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.33354 p.V11118 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179659263 179659263 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 179659263 179659263 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.1261 p.D421N 1.000 pfam_Titin_Z pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC UBAP2L 9898 genome.wustl.edu 37 1 154226534 154226534 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 154226534 154226534 C T SNP UBAP2L ENST00000361546 human ensembl 70_37 +1 known missense c.1823 p.S608L 1.000 NULL pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2L HGNC UBAP2L 9898 genome.wustl.edu 37 1 154241393 154241393 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 154241393 154241393 C T SNP UBAP2L ENST00000361546 human ensembl 70_37 +1 known missense c.3131 p.S1044F 1.000 NULL pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2L HGNC UGCG 7357 genome.wustl.edu 37 9 114676973 114676973 + Missense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 9 114676973 114676973 G T SNP UGCG ENST00000374279 human ensembl 70_37 +1 known missense c.187 p.D63Y 1.000 NULL pfam_Glyco_trans_2 - no_errors UGCG HGNC UNC80 285175 genome.wustl.edu 37 2 210804363 210804363 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 2 210804363 210804363 C T SNP UNC80 ENST00000439458 human ensembl 70_37 +1 known silent c.6435 p.F2145 1.000 NULL NULL - no_errors UNC80 HGNC UNKL 64718 genome.wustl.edu 37 16 1463963 1463963 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 1463963 1463963 G A SNP UNKL ENST00000382757 human ensembl 70_37 -1 known missense c.125 p.S42F 1.000 NULL NULL - no_errors UNKL HGNC UPF2 26019 genome.wustl.edu 37 10 11997477 11997477 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 11997477 11997477 G A SNP UPF2 ENST00000356352 human ensembl 70_37 -1 known silent c.2604 p.R868 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC USP24 23358 genome.wustl.edu 37 1 55539505 55539505 + Nonsense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 55539505 55539505 G A SNP USP24 ENST00000294383 human ensembl 70_37 -1 known nonsense c.7522 p.Q2508* 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19 - no_errors USP24 HGNC USP8 9101 genome.wustl.edu 37 15 50776513 50776513 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 15 50776513 50776513 G A SNP USP8 ENST00000307179 human ensembl 70_37 +1 known silent c.1845 p.R615 0.999 NULL pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19 - no_errors USP8 HGNC VMP1 81671 genome.wustl.edu 37 17 57915573 57915573 + RNA SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 17 57915573 57915573 G A SNP VMP1 ENST00000588617 human ensembl 70_37 +1 known rna NULL NULL 0.995 - - - no_errors VMP1 HGNC VPS72 6944 genome.wustl.edu 37 1 151149160 151149160 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 151149160 151149160 G A SNP VPS72 ENST00000368892 human ensembl 70_37 -1 known missense c.1055 p.S352F 0.997 NULL pfam_YL1,pfam_YL1_C - no_errors VPS72 HGNC WDR62 284403 genome.wustl.edu 37 19 36593869 36593869 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 36593869 36593869 C T SNP WDR62 ENST00000401500 human ensembl 70_37 +1 known missense c.3355 p.P1119S 0.004 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR62 HGNC NELFA 7469 genome.wustl.edu 37 4 1987870 1987870 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 1987870 1987870 C T SNP WHSC2 ENST00000382882 human ensembl 70_37 -1 known missense c.839 p.R280Q 1.000 NULL NULL - no_errors WHSC2 HGNC WNK1 65125 genome.wustl.edu 37 12 992678 992678 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 12 992678 992678 G A SNP WNK1 ENST00000530271 human ensembl 70_37 +1 known missense c.5101 p.D1701N 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK1 HGNC YES1 7525 genome.wustl.edu 37 18 724573 724573 + Nonsense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 18 724573 724573 G A SNP YES1 ENST00000314574 human ensembl 70_37 -1 known nonsense c.1483 p.Q495* 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors YES1 HGNC YIPF2 78992 genome.wustl.edu 37 19 11038333 11038333 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 11038333 11038333 C G SNP YIPF2 ENST00000253031 human ensembl 70_37 -1 known missense c.252 p.Q84H 0.997 NULL pfam_Yip1 - no_errors YIPF2 HGNC YTHDC2 64848 genome.wustl.edu 37 5 112929060 112929060 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 112929060 112929060 G C SNP YTHDC2 ENST00000161863 human ensembl 70_37 +1 known missense c.4273 p.E1425Q 1.000 NULL pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC ZBTB40 9923 genome.wustl.edu 37 1 22817988 22817988 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 22817988 22817988 C G SNP ZBTB40 ENST00000375647 human ensembl 70_37 +1 known missense c.793 p.L265V 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB40 HGNC ZBTB46 140685 genome.wustl.edu 37 20 62421190 62421190 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 20 62421190 62421190 G A SNP ZBTB46 ENST00000245663 human ensembl 70_37 -1 known silent c.921 p.F307 0.999 NULL pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ZC3H3 23144 genome.wustl.edu 37 8 144623587 144623587 + Missense_Mutation SNP T T A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 8 144623587 144623587 T A SNP ZC3H3 ENST00000262577 human ensembl 70_37 -1 known missense c.5 p.E2V 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ZCCHC12 170261 genome.wustl.edu 37 X 117959558 117959558 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 X 117959558 117959558 G A SNP ZCCHC12 ENST00000310164 human ensembl 70_37 +1 known missense c.351 p.M117I 0.990 NULL superfamily_Znf_CCHC - no_errors ZCCHC12 HGNC ZDHHC14 79683 genome.wustl.edu 37 6 157803287 157803287 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 157803287 157803287 C G SNP ZDHHC14 ENST00000359775 human ensembl 70_37 +1 known missense c.234 p.F78L 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC14 HGNC ZDHHC8 29801 genome.wustl.edu 37 22 20127384 20127384 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 20127384 20127384 G A SNP ZDHHC8 ENST00000405930 human ensembl 70_37 +1 known missense c.526 p.E176K 0.997 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC8 HGNC ZFX 7543 genome.wustl.edu 37 X 24197540 24197540 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 X 24197540 24197540 C T SNP ZFX ENST00000540034 human ensembl 70_37 +1 known missense c.416 p.S139L 1.000 pfam_Transcrp_activ_Zfx/Zfy-dom pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFX HGNC ZFYVE28 57732 genome.wustl.edu 37 4 2343313 2343313 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 4 2343313 2343313 G A SNP ZFYVE28 ENST00000290974 human ensembl 70_37 -1 known silent c.210 p.I70 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE28 HGNC ZNF133 7692 genome.wustl.edu 37 20 18297585 18297585 + RNA SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 20 18297585 18297585 C T SNP ZNF133 ENST00000462170 human ensembl 70_37 +1 known rna NULL NULL 0.080 - - - no_errors ZNF133 HGNC ZNF263 10127 genome.wustl.edu 37 16 3335110 3335110 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 3335110 3335110 C T SNP ZNF263 ENST00000219069 human ensembl 70_37 +1 known silent c.439 p.L147 1.000 smart_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF263 HGNC ZNF28 7576 genome.wustl.edu 37 19 53303790 53303790 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 53303790 53303790 C T SNP ZNF28 ENST00000457749 human ensembl 70_37 -1 known silent c.1308 p.E436 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 ZNF28 HGNC ZNF292 23036 genome.wustl.edu 37 6 87966072 87966072 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 87966072 87966072 G C SNP ZNF292 ENST00000369577 human ensembl 70_37 +1 known missense c.2725 p.E909Q 0.012 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ZNF292 23036 genome.wustl.edu 37 6 87966431 87966431 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 87966431 87966431 G C SNP ZNF292 ENST00000369577 human ensembl 70_37 +1 known missense c.3084 p.L1028F 0.991 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ZNF32 7580 genome.wustl.edu 37 10 44139651 44139651 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 44139651 44139651 C T SNP ZNF32 ENST00000374433 human ensembl 70_37 -1 known silent c.669 p.R223 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF32 HGNC ZNF365 22891 genome.wustl.edu 37 10 64135973 64135973 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 10 64135973 64135973 G A SNP ZNF365 ENST00000410046 human ensembl 70_37 +1 known silent c.21 p.E7 1.000 NULL NULL - no_errors ZNF365 HGNC ZNF366 167465 genome.wustl.edu 37 5 71756459 71756459 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 5 71756459 71756459 G C SNP ZNF366 ENST00000318442 human ensembl 70_37 -1 known missense c.865 p.L289V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ZNF396 252884 genome.wustl.edu 37 18 32954014 32954014 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 18 32954014 32954014 C T SNP ZNF396 ENST00000589332 human ensembl 70_37 -1 known silent c.243 p.L81 0.999 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF396 HGNC ZNF436 80818 genome.wustl.edu 37 1 23688685 23688685 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 23688685 23688685 C T SNP ZNF436 ENST00000314011 human ensembl 70_37 -1 known missense c.1190 p.R397Q 1.000 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 ZNF436 HGNC ZNF462 58499 genome.wustl.edu 37 9 109691272 109691272 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 9 109691272 109691272 G A SNP ZNF462 ENST00000457913 human ensembl 70_37 +1 known silent c.5079 p.K1693 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ZNF467 168544 genome.wustl.edu 37 7 149461892 149461892 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 149461892 149461892 C T SNP ZNF467 ENST00000302017 human ensembl 70_37 -1 known missense c.1699 p.E567K 0.021 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF467 HGNC ZNF506 440515 genome.wustl.edu 37 19 19905766 19905766 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 19905766 19905766 C G SNP ZNF506 ENST00000443905 human ensembl 70_37 -1 known missense c.930 p.E310D 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 ZNF506 HGNC ZNF532 55205 genome.wustl.edu 37 18 56606737 56606737 + Silent SNP T T C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 18 56606737 56606737 T C SNP ZNF532 ENST00000336078 human ensembl 70_37 +1 known silent c.2589 p.G863 0.958 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ZNF532 55205 genome.wustl.edu 37 18 56606770 56606770 + Silent SNP T T C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 18 56606770 56606770 T C SNP ZNF532 ENST00000336078 human ensembl 70_37 +1 known silent c.2622 p.I874 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ZNF564 163050 genome.wustl.edu 37 19 12637494 12637494 + Silent SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 12637494 12637494 G C SNP ZNF564 ENST00000339282 human ensembl 70_37 -1 known silent c.1428 p.P476 0.016 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 ZNF564 HGNC ZNF564 163050 genome.wustl.edu 37 19 12637736 12637736 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 12637736 12637736 G C SNP ZNF564 ENST00000339282 human ensembl 70_37 -1 known missense c.1186 p.Q396E 0.013 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 ZNF564 HGNC ZNF564 163050 genome.wustl.edu 37 19 12638687 12638687 + Missense_Mutation SNP G G C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 12638687 12638687 G C SNP ZNF564 ENST00000339282 human ensembl 70_37 -1 known missense c.235 p.Q79E 0.001 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF564 HGNC ZNF570 148268 genome.wustl.edu 37 19 37961245 37961245 + Nonsense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 37961245 37961245 G T SNP ZNF570 ENST00000586475 human ensembl 70_37 +1 putative nonsense c.157 p.E53* 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF570 HGNC ZNF570 148268 genome.wustl.edu 37 19 37961255 37961255 + Missense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 37961255 37961255 G T SNP ZNF570 ENST00000586475 human ensembl 70_37 +1 putative missense c.167 p.R56I 0.763 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF570 HGNC ZNF570 148268 genome.wustl.edu 37 19 37975793 37975793 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 37975793 37975793 C G SNP ZNF570 ENST00000330173 human ensembl 70_37 +1 known missense c.1269 p.F423L 0.989 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 ZNF570 HGNC ZNF714 148206 genome.wustl.edu 37 19 21299966 21299966 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 21299966 21299966 C T SNP ZNF714 ENST00000596143 human ensembl 70_37 +1 known missense c.496 p.H166Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF714 HGNC ZNF727 442319 genome.wustl.edu 37 7 63538904 63538904 + Nonsense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 7 63538904 63538904 C T SNP ZNF727 ENST00000550760 human ensembl 70_37 +1 known nonsense c.1477 p.Q493* 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF727 HGNC ZNF761 388561 genome.wustl.edu 37 19 53958209 53958209 + RNA SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 53958209 53958209 G A SNP ZNF761 ENST00000334095 human ensembl 70_37 +1 known rna NULL NULL 0.036 - - - no_errors ZNF761 HGNC ZNF878 729747 genome.wustl.edu 37 19 12155702 12155702 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 19 12155702 12155702 C T SNP ZNF878 ENST00000602107 human ensembl 70_37 -1 known missense c.655 p.E219K 0.131 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 ZNF878 HGNC ZNRF3 84133 genome.wustl.edu 37 22 29446272 29446272 + Nonsense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 22 29446272 29446272 G A SNP ZNRF3 ENST00000544604 human ensembl 70_37 +1 known nonsense c.2103 p.W701* 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF3 HGNC ZP2 7783 genome.wustl.edu 37 16 21215375 21215375 + Missense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 21215375 21215375 G T SNP ZP2 ENST00000219593 human ensembl 70_37 -1 known missense c.948 p.F316L 1.000 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP2 HGNC ZP2 7783 genome.wustl.edu 37 16 21215708 21215708 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 16 21215708 21215708 G A SNP ZP2 ENST00000219593 human ensembl 70_37 -1 known silent c.711 p.L237 0.970 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP2 HGNC ZRSR2 8233 genome.wustl.edu 37 X 15818015 15818015 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 X 15818015 15818015 G A SNP ZRSR2 ENST00000307771 human ensembl 70_37 +1 known missense c.142 p.E48K 0.975 NULL pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,pfscan_RRM_dom,prints_U2_small - no_errors ZRSR2 HGNC ZSCAN12 9753 genome.wustl.edu 37 6 28366095 28366095 + Missense_Mutation SNP G G T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 28366095 28366095 G T SNP ZSCAN12 ENST00000361028 human ensembl 70_37 -1 known missense c.88 p.Q30K 0.046 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN12 HGNC ZSCAN23 222696 genome.wustl.edu 37 6 28403360 28403360 + Missense_Mutation SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 6 28403360 28403360 C T SNP ZSCAN23 ENST00000289788 human ensembl 70_37 -1 known missense c.433 p.E145K 0.832 smart_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN23 HGNC ZYG11A 440590 genome.wustl.edu 37 1 53322948 53322948 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 53322948 53322948 C G SNP ZYG11A ENST00000371528 human ensembl 70_37 +1 known missense c.535 p.Q179E 1.000 NULL superfamily_ARM-type_fold - no_errors ZYG11A HGNC ZYG11A 440590 genome.wustl.edu 37 1 53323185 53323185 + Missense_Mutation SNP C C G TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f741066-3dc3-42b9-8287-28b5e5aade9a 5c21b027-1850-4ea4-92e7-8a7e863b86b8 1 53323185 53323185 C G SNP ZYG11A ENST00000371528 human ensembl 70_37 +1 known missense c.772 p.L258V 0.990 NULL superfamily_ARM-type_fold - no_errors ZYG11A HGNC