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 ABCD4 5826 genome.wustl.edu 37 14 74763119 74763119 + Missense_Mutation SNP G G T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 14 74763119 74763119 G T SNP ABCD4 ENST00000356924 human ensembl 70_37 -1 known missense c.459 p.F153L 1.000 pfam_ABC_Ald_N,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCD4 HGNC ACAP1 9744 genome.wustl.edu 37 17 7253489 7253489 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 17 7253489 7253489 C G SNP ACAP1 ENST00000158762 human ensembl 70_37 +1 known missense c.2005 p.R669G 0.221 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP1 HGNC ADAD1 132612 genome.wustl.edu 37 4 123301290 123301290 + Missense_Mutation SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 4 123301290 123301290 G C SNP ADAD1 ENST00000296513 human ensembl 70_37 +1 known missense c.66 p.K22N 1.000 NULL pfam_A_deamin,pfam_Ds-RNA-bd,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin - no_errors ADAD1 HGNC ADCY10 55811 genome.wustl.edu 37 1 167852753 167852753 + Silent SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 167852753 167852753 G A SNP ADCY10 ENST00000367851 human ensembl 70_37 -1 known silent c.942 p.I314 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC AGBL5 60509 genome.wustl.edu 37 2 27276285 27276285 + Silent SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 2 27276285 27276285 C T SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known silent c.231 p.F77 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC AHNAK2 113146 genome.wustl.edu 37 14 105417015 105417015 + Silent SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 14 105417015 105417015 G A SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known silent c.4773 p.L1591 0.007 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ANK2 287 genome.wustl.edu 37 4 114267077 114267077 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 4 114267077 114267077 C T SNP ANK2 ENST00000357077 human ensembl 70_37 +1 known missense c.4270 p.P1424S 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC AP2A1 160 genome.wustl.edu 37 19 50295238 50295238 + Nonsense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 50295238 50295238 C T SNP AP2A1 ENST00000354293 human ensembl 70_37 +1 known nonsense c.520 p.R174* 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A1 HGNC AP3B1 8546 genome.wustl.edu 37 5 77524005 77524005 + Missense_Mutation SNP G G T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 5 77524005 77524005 G T SNP AP3B1 ENST00000255194 human ensembl 70_37 -1 known missense c.338 p.A113E 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ARHGAP6 395 genome.wustl.edu 37 X 11187767 11187767 + Missense_Mutation SNP G G T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 X 11187767 11187767 G T SNP ARHGAP6 ENST00000337414 human ensembl 70_37 -1 known missense c.1667 p.T556N 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ARHGEF2 9181 genome.wustl.edu 37 1 155931936 155931936 + Silent SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 155931936 155931936 C T SNP ARHGEF2 ENST00000368315 human ensembl 70_37 -1 known silent c.1182 p.K394 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 BMP1 649 genome.wustl.edu 37 8 22056829 22056829 + Missense_Mutation SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 8 22056829 22056829 G C SNP BMP1 ENST00000397816 human ensembl 70_37 +1 known missense c.2402 p.R801T 1.000 pirsf_BMP_1/tolloid-like pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors BMP1 HGNC C4orf21 55345 genome.wustl.edu 37 4 113461126 113461127 + Frame_Shift_Ins INS - - T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 4 113461126 113461127 - T INS C4orf21 ENST00000505019 human ensembl 70_37 -1 known frame_shift_ins c.6065_6064 p.R2022fs 1.000:0.990 NULL pfam_DUF2439,pfam_Znf_GRF - no_errors C4orf21 HGNC CARD11 84433 genome.wustl.edu 37 7 2972191 2972191 + Silent SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 7 2972191 2972191 C T SNP CARD11 ENST00000396946 human ensembl 70_37 -1 known silent c.1548 p.L516 1.000 NULL pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC CATSPER2 117155 genome.wustl.edu 37 15 43928408 43928408 + Silent SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 15 43928408 43928408 C T SNP CATSPER2 ENST00000299989 human ensembl 70_37 -1 known silent c.852 p.P284 0.001 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors CATSPER2 HGNC CBX4 8535 genome.wustl.edu 37 17 77807985 77807985 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 17 77807985 77807985 C T SNP CBX4 ENST00000269397 human ensembl 70_37 -1 known missense c.1456 p.E486K 0.257 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,prints_Chromo_dom_subgr,pfscan_Chromo_domain/shadow - no_errors CBX4 HGNC CC2D1B 200014 genome.wustl.edu 37 1 52822821 52822821 + RNA SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 52822821 52822821 C T SNP CC2D1B ENST00000460261 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CC2D1B HGNC CCDC78 124093 genome.wustl.edu 37 16 773855 773855 + Splice_Site SNP A A G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 16 773855 773855 A G SNP CCDC78 ENST00000293889 human ensembl 70_37 -1 known splice_site c.1133+2 e11+2 0.989 - - - no_errors CCDC78 HGNC CCM2L 140706 genome.wustl.edu 37 20 30610588 30610588 + Silent SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 20 30610588 30610588 C T SNP CCM2L ENST00000300415 human ensembl 70_37 +1 known silent c.1059 p.L353 0.985 NULL NULL - no_errors CCM2L HGNC CCS 9973 genome.wustl.edu 37 11 66366699 66366699 + Silent SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 11 66366699 66366699 C G SNP CCS ENST00000533244 human ensembl 70_37 +1 known silent c.225 p.L75 1.000 superfamily_SOD_Cu_Zn_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA pfam_SOD_Cu_Zn_dom,pfam_HeavyMe-assoc_HMA,superfamily_SOD_Cu_Zn_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_SOD_Cu_Zn_dom - no_errors CCS HGNC CDC42BPA 8476 genome.wustl.edu 37 1 227299834 227299834 + RNA SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 227299834 227299834 C T SNP CDC42BPA ENST00000466538 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors CDC42BPA HGNC CDCA2 157313 genome.wustl.edu 37 8 25319603 25319603 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 8 25319603 25319603 G A SNP CDCA2 ENST00000330560 human ensembl 70_37 +1 known missense c.266 p.R89Q 0.844 NULL NULL - no_errors CDCA2 HGNC CENPE 1062 genome.wustl.edu 37 4 104035655 104035655 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 4 104035655 104035655 C G SNP CENPE ENST00000265148 human ensembl 70_37 -1 known missense c.7497 p.L2499F 0.857 NULL pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC CEP78 84131 genome.wustl.edu 37 9 80855103 80855103 + Silent SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 9 80855103 80855103 C T SNP CEP78 ENST00000376597 human ensembl 70_37 +1 known silent c.418 p.L140 0.136 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors CEP78 HGNC CIRBP 1153 genome.wustl.edu 37 19 1272191 1272191 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 1272191 1272191 C G SNP CIRBP ENST00000444172 human ensembl 70_37 +1 known missense c.484 p.Q162E 0.007 NULL NULL - no_errors CIRBP HGNC CIRBP-AS1 148046 genome.wustl.edu 37 19 1270131 1270131 + RNA SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 1270131 1270131 C T SNP CIRBP-AS1 ENST00000585832 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CIRBP-AS1 HGNC CKAP2L 150468 genome.wustl.edu 37 2 113496492 113496492 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 2 113496492 113496492 C T SNP CKAP2L ENST00000302450 human ensembl 70_37 -1 known missense c.2146 p.E716K 0.741 NULL NULL - no_errors CKAP2L HGNC CLASRP 11129 genome.wustl.edu 37 19 45571722 45571722 + Missense_Mutation SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 45571722 45571722 G C SNP CLASRP ENST00000221455 human ensembl 70_37 +1 known missense c.1752 p.K584N 1.000 NULL pfam_SWAP_N_domain - no_errors CLASRP HGNC CLCN6 1185 genome.wustl.edu 37 1 11900256 11900256 + Silent SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 11900256 11900256 G A SNP CLCN6 ENST00000346436 human ensembl 70_37 +1 known silent c.2586 p.L862 0.999 NULL 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-6 - no_errors CLCN6 HGNC CNTN3 5067 genome.wustl.edu 37 3 74535723 74535723 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 3 74535723 74535723 C G SNP CNTN3 ENST00000263665 human ensembl 70_37 -1 known missense c.242 p.G81A 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN3 HGNC COG2 22796 genome.wustl.edu 37 1 230804495 230804495 + Missense_Mutation SNP A A G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 230804495 230804495 A G SNP COG2 ENST00000366669 human ensembl 70_37 +1 known missense c.559 p.S187G 1.000 NULL pfam_COG_complex_COG2_C,pfam_COG_su2_N - no_errors COG2 HGNC CRB1 23418 genome.wustl.edu 37 1 197390187 197390187 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 197390187 197390187 G A SNP CRB1 ENST00000367400 human ensembl 70_37 +1 known missense c.1229 p.G410D 0.998 pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC CUL4A 8451 genome.wustl.edu 37 13 113909425 113909425 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 13 113909425 113909425 C G SNP CUL4A ENST00000375440 human ensembl 70_37 +1 known missense c.2017 p.Q673E 1.000 NULL pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4A HGNC CYP2B7P1 1556 genome.wustl.edu 37 19 41447224 41447224 + RNA SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 41447224 41447224 C T SNP CYP2B7P1 ENST00000599198 human ensembl 70_37 +1 known rna NULL NULL 0.039 - - - no_errors CYP2B7P1 HGNC DCAF12L1 139170 genome.wustl.edu 37 X 125685755 125685755 + Silent SNP C C A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 X 125685755 125685755 C A SNP DCAF12L1 ENST00000371126 human ensembl 70_37 -1 known silent c.837 p.A279 0.008 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC DDX52 11056 genome.wustl.edu 37 17 35986056 35986056 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 17 35986056 35986056 C T SNP DDX52 ENST00000349699 human ensembl 70_37 -1 known missense c.1021 p.A341T 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX52 HGNC DIDO1 11083 genome.wustl.edu 37 20 61542823 61542823 + Silent SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 20 61542823 61542823 G A SNP DIDO1 ENST00000266070 human ensembl 70_37 -1 known silent c.142 p.L48 0.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC DIP2A 23181 genome.wustl.edu 37 21 47929216 47929216 + Silent SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 21 47929216 47929216 G C SNP DIP2A ENST00000318711 human ensembl 70_37 +1 known silent c.834 p.L278 0.072 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC DLC1 10395 genome.wustl.edu 37 8 13162751 13162751 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 8 13162751 13162751 G A SNP DLC1 ENST00000511869 human ensembl 70_37 -1 novel missense c.1375 p.L459F 0.003 NULL NULL - no_errors DLC1 HGNC DMXL2 23312 genome.wustl.edu 37 15 51755661 51755661 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 15 51755661 51755661 C T SNP DMXL2 ENST00000543779 human ensembl 70_37 -1 known missense c.7841 p.R2614Q 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC DNAH3 55567 genome.wustl.edu 37 16 20975107 20975107 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 16 20975107 20975107 C G SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known missense c.10099 p.E3367Q 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC DNAJB1 3337 genome.wustl.edu 37 19 14627324 14627324 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 14627324 14627324 C T SNP DNAJB1 ENST00000254322 human ensembl 70_37 -1 known missense c.746 p.R249K 1.000 pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB1 HGNC DNAJB1 3337 genome.wustl.edu 37 19 14627859 14627859 + Splice_Site SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 14627859 14627859 C T SNP DNAJB1 ENST00000254322 human ensembl 70_37 -1 known splice_site c.212-1 e2-1 1.000 - - - no_errors DNAJB1 HGNC DNLZ 728489 genome.wustl.edu 37 9 139257980 139257997 + In_Frame_Del DEL GCCCCAGAGCCGCCGCGG GCCCCAGAGCCGCCGCGG - TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 GCCCCAGAGCCGCCGCGG GCCCCAGAGCCGCCGCGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 9 139257980 139257997 GCCCCAGAGCCGCCGCGG - DEL DNLZ ENST00000371738 human ensembl 70_37 -1 known in_frame_del c.187_170 p.PAAALG57in_frame_del 0.005:0.007:0.064:0.067:0.062:0.062:0.050:0.044:0.061:0.084:0.058:0.081:0.066:0.064:0.036:0.037:0.050:0.061 NULL pfam_Znf_DNL-typ - no_errors DNLZ HGNC DOCK3 1795 genome.wustl.edu 37 3 50816135 50816135 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 3 50816135 50816135 C G SNP DOCK3 ENST00000266037 human ensembl 70_37 +1 known missense c.67 p.Q23E 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC DPEP2 64174 genome.wustl.edu 37 16 68026017 68026017 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 16 68026017 68026017 C T SNP DPEP2 ENST00000393847 human ensembl 70_37 -1 known missense c.470 p.R157H 0.001 pfam_Peptidase_M19 pfam_Peptidase_M19 - no_errors DPEP2 HGNC DYNC1H1 1778 genome.wustl.edu 37 14 102481656 102481656 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 14 102481656 102481656 C T SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known missense c.7229 p.S2410F 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ECT2L 345930 genome.wustl.edu 37 6 139206714 139206714 + Silent SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 6 139206714 139206714 G A SNP ECT2L ENST00000367682 human ensembl 70_37 +1 known silent c.2100 p.L700 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_F-box_dom_cyclin-like,superfamily_DH-domain,superfamily_F-box_dom_cyclin-like,smart_DH-domain,pfscan_DH-domain - no_errors ECT2L HGNC EDA 1896 genome.wustl.edu 37 X 69176994 69176994 + RNA SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 X 69176994 69176994 C T SNP EDA ENST00000502251 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors EDA HGNC EPHA10 284656 genome.wustl.edu 37 1 38227478 38227478 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 38227478 38227478 C T SNP EPHA10 ENST00000427468 human ensembl 70_37 -1 known missense c.449 p.R150H 0.952 pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA10 HGNC EPHA2 1969 genome.wustl.edu 37 1 16474972 16474972 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 16474972 16474972 C T SNP EPHA2 ENST00000358432 human ensembl 70_37 -1 known missense c.724 p.E242K 1.000 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA2 HGNC ERV3-1 2086 genome.wustl.edu 37 7 64452419 64452419 + Nonsense_Mutation SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 7 64452419 64452419 G C SNP ERV3-1 ENST00000394323 human ensembl 70_37 -1 known nonsense c.986 p.S329* 0.108 NULL NULL - no_errors ERV3-1 HGNC FAM181A 90050 genome.wustl.edu 37 14 94395423 94395423 + Missense_Mutation SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 14 94395423 94395423 G C SNP FAM181A ENST00000267594 human ensembl 70_37 +1 known missense c.978 p.Q326H 0.999 NULL NULL - no_errors FAM181A HGNC FBXO25 26260 genome.wustl.edu 37 8 400077 400077 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 8 400077 400077 C G SNP FBXO25 ENST00000276326 human ensembl 70_37 +1 known missense c.469 p.Q157E 0.978 NULL superfamily_F-box_dom_cyclin-like - no_errors FBXO25 HGNC FBXW7 55294 genome.wustl.edu 37 4 153247245 153247245 + Nonsense_Mutation SNP A A T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 4 153247245 153247245 A T SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known nonsense c.1557 p.Y519* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC FGF21 26291 genome.wustl.edu 37 19 49260187 49260187 + Silent SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 49260187 49260187 C G SNP FGF21 ENST00000222157 human ensembl 70_37 +1 known silent c.240 p.L80 0.986 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,pirsf_Fibroblast_GF_15/19/21 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,pirsf_Fibroblast_GF_15/19/21,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF21 HGNC FHDC1 85462 genome.wustl.edu 37 4 153864414 153864414 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 4 153864414 153864414 G A SNP FHDC1 ENST00000260008 human ensembl 70_37 +1 known missense c.205 p.E69K 0.822 superfamily_FH2_actin-bd pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHDC1 HGNC FRMD5 84978 genome.wustl.edu 37 15 44166325 44166325 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 15 44166325 44166325 C T SNP FRMD5 ENST00000417257 human ensembl 70_37 -1 known missense c.1471 p.E491K 1.000 NULL pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain - no_errors FRMD5 HGNC FRY 10129 genome.wustl.edu 37 13 32749764 32749764 + Missense_Mutation SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 13 32749764 32749764 G C SNP FRY ENST00000380250 human ensembl 70_37 +1 known missense c.2416 p.D806H 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC FRYL 285527 genome.wustl.edu 37 4 48537794 48537794 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 4 48537794 48537794 C T SNP FRYL ENST00000358350 human ensembl 70_37 -1 known missense c.6444 p.M2148I 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC GADD45B 4616 genome.wustl.edu 37 19 2477087 2477087 + Silent SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 2477087 2477087 C T SNP GADD45B ENST00000215631 human ensembl 70_37 +1 known silent c.207 p.I69 0.999 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors GADD45B HGNC GLRA4 441509 genome.wustl.edu 37 X 102979469 102979469 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 X 102979469 102979469 C T SNP GLRA4 ENST00000372617 human ensembl 70_37 -1 known missense c.270 p.M90I 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA4 HGNC GPR183 1880 genome.wustl.edu 37 13 99948184 99948184 + Missense_Mutation SNP A A C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 13 99948184 99948184 A C SNP GPR183 ENST00000376414 human ensembl 70_37 -1 known missense c.216 p.N72K 0.796 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors GPR183 HGNC GRM8 2918 genome.wustl.edu 37 7 126542611 126542611 + Missense_Mutation SNP T T C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 7 126542611 126542611 T C SNP GRM8 ENST00000339582 human ensembl 70_37 -1 known missense c.1141 p.I381V 0.996 pfam_ANF_lig-bd_rcpt,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt_4 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM8 HGNC HAX1 10456 genome.wustl.edu 37 1 154245822 154245822 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 154245822 154245822 C T SNP HAX1 ENST00000483970 human ensembl 70_37 +1 known missense c.64 p.P22S 1.000 pirsf_HS1--assoc_X-1 pirsf_HS1--assoc_X-1 - no_errors HAX1 HGNC HELQ 113510 genome.wustl.edu 37 4 84361036 84361036 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 4 84361036 84361036 C T SNP HELQ ENST00000295488 human ensembl 70_37 -1 known missense c.1788 p.M596I 1.000 smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELQ HGNC HELZ2 85441 genome.wustl.edu 37 20 62195546 62195546 + Silent SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 20 62195546 62195546 G A SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known silent c.4629 p.S1543 0.000 pfam_RNase_II/R,smart_RNase_II/R pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC HGD 3081 genome.wustl.edu 37 3 120363243 120363243 + Missense_Mutation SNP A A G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 3 120363243 120363243 A G SNP HGD ENST00000283871 human ensembl 70_37 -1 known missense c.697 p.W233R 1.000 pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase - no_errors HGD HGNC HNRNPUL2 221092 genome.wustl.edu 37 11 62491178 62491178 + Nonsense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 11 62491178 62491178 G A SNP HNRNPUL2 ENST00000301785 human ensembl 70_37 -1 known nonsense c.772 p.Q258* 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,pfam_Chromatin_KTI12,superfamily_ConA-like_lec_gl_sf,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd - no_errors HNRNPUL2 HGNC IGFL4 444882 genome.wustl.edu 37 19 46543814 46543814 + Missense_Mutation SNP A A G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 46543814 46543814 A G SNP IGFL4 ENST00000377697 human ensembl 70_37 -1 known missense c.32 p.I11T 0.000 NULL NULL - no_errors IGFL4 HGNC IKZF1 10320 genome.wustl.edu 37 7 50468081 50468081 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 7 50468081 50468081 G A SNP IKZF1 ENST00000331340 human ensembl 70_37 +1 known missense c.1316 p.R439H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF1 HGNC INO80D 54891 genome.wustl.edu 37 2 206882465 206882465 + Missense_Mutation SNP G G T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 2 206882465 206882465 G T SNP INO80D ENST00000403263 human ensembl 70_37 -1 known missense c.1481 p.S494Y 1.000 NULL NULL - no_errors INO80D HGNC IQCB1 9657 genome.wustl.edu 37 3 121527805 121527805 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 3 121527805 121527805 G A SNP IQCB1 ENST00000310864 human ensembl 70_37 -1 known missense c.445 p.L149F 1.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCB1 HGNC IQCG 84223 genome.wustl.edu 37 3 197616500 197616500 + Nonsense_Mutation SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 3 197616500 197616500 G C SNP IQCG ENST00000265239 human ensembl 70_37 -1 known nonsense c.1283 p.S428* 0.002 NULL pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCG HGNC JUNB 3726 genome.wustl.edu 37 19 12903536 12903536 + Silent SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 12903536 12903536 C T SNP JUNB ENST00000302754 human ensembl 70_37 +1 known silent c.951 p.L317 0.986 pfam_bZIP,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUNB HGNC KIAA1967 57805 genome.wustl.edu 37 8 22470619 22470619 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 8 22470619 22470619 G A SNP KIAA1967 ENST00000308511 human ensembl 70_37 +1 known missense c.674 p.R225Q 1.000 NULL superfamily_NA-bd_OB-fold-like - no_errors KIAA1967 HGNC LARP1 23367 genome.wustl.edu 37 5 154092620 154092620 + Silent SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 5 154092620 154092620 G A SNP LARP1 ENST00000336314 human ensembl 70_37 +1 known silent c.135 p.P45 0.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC LCMT1 51451 genome.wustl.edu 37 16 25172470 25172470 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 16 25172470 25172470 C T SNP LCMT1 ENST00000399069 human ensembl 70_37 +1 known missense c.514 p.L172F 1.000 pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCTM1 pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCTM1 - no_errors LCMT1 HGNC LCN10 414332 genome.wustl.edu 37 9 139637353 139637353 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 9 139637353 139637353 C T SNP LCN10 ENST00000497771 human ensembl 70_37 -1 known missense c.3 p.M1I 0.416 NULL superfamily_Calycin-like - no_errors LCN10 HGNC LOC100130855 100130855 genome.wustl.edu 37 15 63881069 63881069 + RNA SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 15 63881069 63881069 C T SNP LOC100130855 ENST00000558831 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-265M18.2 Clone_based_vega_gene LOC100134229 100134229 genome.wustl.edu 37 7 139878081 139878081 + RNA SNP T T C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 7 139878081 139878081 T C SNP LOC100134229 ENST00000566699 human ensembl 70_37 +1 known rna NULL NULL 0.131 - - - no_errors RP4-659J6.2 Clone_based_vega_gene LOC100996920 100996920 genome.wustl.edu 37 1 142803370 142803370 + RNA SNP T T G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 142803370 142803370 T G SNP LOC100996920 ENST00000423385 human ensembl 70_37 -1 putative rna NULL NULL 0.001 - - - no_errors RP11-423O2.5 Clone_based_vega_gene LPXN 9404 genome.wustl.edu 37 11 58318619 58318619 + Silent SNP C C A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 11 58318619 58318619 C A SNP LPXN ENST00000528954 human ensembl 70_37 -1 known silent c.420 p.L140 1.000 pirsf_Leupaxin pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM - no_errors LPXN HGNC MAEL 84944 genome.wustl.edu 37 1 166963303 166963303 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 166963303 166963303 G A SNP MAEL ENST00000367872 human ensembl 70_37 +1 known missense c.520 p.A174T 1.000 superfamily_CH-domain pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_CH-domain - no_errors MAEL HGNC MAPK1 5594 genome.wustl.edu 37 22 22127164 22127164 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 22 22127164 22127164 C T SNP MAPK1 ENST00000215832 human ensembl 70_37 -1 known missense c.964 p.E322K 1.000 superfamily_Kinase-like_dom,prints_MAPK_ERK1/2 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,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4 - no_errors MAPK1 HGNC MED9 55090 genome.wustl.edu 37 17 17380479 17380479 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 17 17380479 17380479 C G SNP MED9 ENST00000268711 human ensembl 70_37 +1 known missense c.124 p.Q42E 0.035 NULL pfam_Mediator_Med9 - no_errors MED9 HGNC MESDC2 23184 genome.wustl.edu 37 15 81274372 81274372 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 15 81274372 81274372 C T SNP MESDC2 ENST00000261758 human ensembl 70_37 -1 known missense c.365 p.G122E 1.000 pfam_Mesoderm_development_cand-2 pfam_Mesoderm_development_cand-2 - no_errors MESDC2 HGNC MMEL1 79258 genome.wustl.edu 37 1 2537001 2537001 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 2537001 2537001 C T SNP MMEL1 ENST00000378412 human ensembl 70_37 -1 known missense c.812 p.R271Q 0.946 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MMEL1 HGNC MOGAT1 116255 genome.wustl.edu 37 2 223553201 223553201 + Missense_Mutation SNP G G T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 2 223553201 223553201 G T SNP MOGAT1 ENST00000446656 human ensembl 70_37 +1 known missense c.233 p.W78L 0.646 pfam_DAGAT pfam_DAGAT - no_errors MOGAT1 HGNC MPEG1 219972 genome.wustl.edu 37 11 58980271 58980271 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 11 58980271 58980271 G A SNP MPEG1 ENST00000361050 human ensembl 70_37 -1 known missense c.68 p.S23L 0.000 NULL pfam_MACPF,smart_MACPF - no_errors MPEG1 HGNC MYH7 4625 genome.wustl.edu 37 14 23894516 23894516 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 14 23894516 23894516 C T SNP MYH7 ENST00000355349 human ensembl 70_37 -1 known missense c.2398 p.E800K 1.000 smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC MYH7 4625 genome.wustl.edu 37 14 23894521 23894521 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 14 23894521 23894521 C T SNP MYH7 ENST00000355349 human ensembl 70_37 -1 known missense c.2393 p.R798K 1.000 smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC MYO18A 399687 genome.wustl.edu 37 17 27430627 27430627 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 17 27430627 27430627 C G SNP MYO18A ENST00000354329 human ensembl 70_37 -1 known missense c.3497 p.G1166A 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC NCK1 4690 genome.wustl.edu 37 3 136664454 136664454 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 3 136664454 136664454 G A SNP NCK1 ENST00000288986 human ensembl 70_37 +1 known missense c.256 p.V86M 1.000 superfamily_SH3_domain,pirsf_Cytoplasmic_NCK pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK1 HGNC NF1 4763 genome.wustl.edu 37 17 29528441 29528441 + Nonsense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 17 29528441 29528441 C T SNP NF1 ENST00000358273 human ensembl 70_37 +1 known nonsense c.1198 p.Q400* 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC NFAT5 10725 genome.wustl.edu 37 16 69727754 69727754 + Silent SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 16 69727754 69727754 C G SNP NFAT5 ENST00000432919 human ensembl 70_37 +1 known silent c.4026 p.P1342 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC NOX3 50508 genome.wustl.edu 37 6 155764498 155764498 + Missense_Mutation SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 6 155764498 155764498 G C SNP NOX3 ENST00000159060 human ensembl 70_37 -1 known missense c.395 p.S132C 0.867 pfam_Fe3_Rdtase_TM_dom pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX3 HGNC NOX3 50508 genome.wustl.edu 37 6 155764527 155764527 + Silent SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 6 155764527 155764527 G A SNP NOX3 ENST00000159060 human ensembl 70_37 -1 known silent c.366 p.F122 0.997 pfam_Fe3_Rdtase_TM_dom,prints_Cyt_b245_heavy_chain pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX3 HGNC NRIP1 8204 genome.wustl.edu 37 21 16337230 16337230 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 21 16337230 16337230 G A SNP NRIP1 ENST00000318948 human ensembl 70_37 -1 known missense c.3284 p.S1095F 0.454 NULL NULL - no_errors NRIP1 HGNC NRIP1 8204 genome.wustl.edu 37 21 16338244 16338244 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 21 16338244 16338244 G A SNP NRIP1 ENST00000318948 human ensembl 70_37 -1 known missense c.2270 p.S757F 0.998 NULL NULL - no_errors NRIP1 HGNC NUDT14 256281 genome.wustl.edu 37 14 105643016 105643016 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 14 105643016 105643016 C T SNP NUDT14 ENST00000392568 human ensembl 70_37 -1 known missense c.283 p.G95S 1.000 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,tigrfam_NDP_pyrophosphatase pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,tigrfam_NDP_pyrophosphatase - no_errors NUDT14 HGNC NUFIP1 26747 genome.wustl.edu 37 13 45517691 45517691 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 13 45517691 45517691 C G SNP NUFIP1 ENST00000379161 human ensembl 70_37 -1 known missense c.1257 p.K419N 0.015 NULL pfam_NUFIP1_cons_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors NUFIP1 HGNC OSBPL2 9885 genome.wustl.edu 37 20 60856904 60856904 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 20 60856904 60856904 C G SNP OSBPL2 ENST00000313733 human ensembl 70_37 +1 known missense c.841 p.H281D 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd - no_errors OSBPL2 HGNC PAG1 55824 genome.wustl.edu 37 8 81892678 81892678 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 8 81892678 81892678 C T SNP PAG1 ENST00000220597 human ensembl 70_37 -1 known missense c.928 p.E310K 1.000 NULL NULL - no_errors PAG1 HGNC PCDHAC1 56135 genome.wustl.edu 37 5 140306841 140306841 + Missense_Mutation SNP C C A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 5 140306841 140306841 C A SNP PCDHAC1 ENST00000253807 human ensembl 70_37 +1 known missense c.364 p.P122T 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC PDE4B 5142 genome.wustl.edu 37 1 66732396 66732396 + RNA SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 66732396 66732396 G C SNP PDE4B ENST00000371048 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PDE4B HGNC PDGFRB 5159 genome.wustl.edu 37 5 149506138 149506138 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 5 149506138 149506138 G A SNP PDGFRB ENST00000261799 human ensembl 70_37 -1 known missense c.1619 p.A540V 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors PDGFRB HGNC PDLIM1 9124 genome.wustl.edu 37 10 97050722 97050722 + RNA SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 10 97050722 97050722 G C SNP PDLIM1 ENST00000477757 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PDLIM1 HGNC PHLDB1 23187 genome.wustl.edu 37 11 118498318 118498318 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 11 118498318 118498318 C T SNP PHLDB1 ENST00000361417 human ensembl 70_37 +1 known missense c.779 p.S260L 1.000 NULL pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC PIWIL4 143689 genome.wustl.edu 37 11 94341823 94341823 + Silent SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 11 94341823 94341823 C T SNP PIWIL4 ENST00000299001 human ensembl 70_37 +1 known silent c.1914 p.C638 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL4 HGNC PLEC 5339 genome.wustl.edu 37 8 144992837 144992837 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 8 144992837 144992837 C T SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.11563 p.E3855K 1.000 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC PLXNB2 23654 genome.wustl.edu 37 22 50719361 50719361 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 22 50719361 50719361 C T SNP PLXNB2 ENST00000359337 human ensembl 70_37 -1 known missense c.3805 p.E1269K 1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB2 HGNC PON3 5446 genome.wustl.edu 37 7 95001611 95001611 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 7 95001611 95001611 C T SNP PON3 ENST00000265627 human ensembl 70_37 -1 known missense c.241 p.E81K 0.149 prints_Arylesterase pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase2 - no_errors PON3 HGNC PSME3 10197 genome.wustl.edu 37 17 40991365 40991365 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 17 40991365 40991365 C T SNP PSME3 ENST00000293362 human ensembl 70_37 +1 known missense c.691 p.R231W 1.000 pfam_Proteasome_activ_REG_bsu,superfamily_Proteasome_activ_REG_asu/bsu pfam_Proteasome_activ_REG_bsu,pfam_Proteasome_activ_REG_asu,superfamily_Proteasome_activ_REG_asu/bsu - no_errors PSME3 HGNC PZP 5858 genome.wustl.edu 37 12 9354941 9354941 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 12 9354941 9354941 C T SNP PZP ENST00000261336 human ensembl 70_37 -1 known missense c.454 p.E152K 0.766 pfam_A2M_N pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC RALGPS2 55103 genome.wustl.edu 37 1 178846666 178846666 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 178846666 178846666 C T SNP RALGPS2 ENST00000367635 human ensembl 70_37 +1 known missense c.641 p.S214L 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS2 HGNC RASA3 22821 genome.wustl.edu 37 13 114780743 114780743 + Silent SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 13 114780743 114780743 C G SNP RASA3 ENST00000334062 human ensembl 70_37 -1 known silent c.1347 p.P449 0.128 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA3 HGNC RGAG4 340526 genome.wustl.edu 37 X 71350359 71350359 + Silent SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 X 71350359 71350359 G A SNP RGAG4 ENST00000479991 human ensembl 70_37 -1 known silent c.1032 p.Y344 0.828 NULL pfam_Retrotrans_gag - no_errors RGAG4 HGNC RNASE13 440163 genome.wustl.edu 37 14 21502046 21502046 + Silent SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 14 21502046 21502046 G C SNP RNASE13 ENST00000382951 human ensembl 70_37 -1 known silent c.402 p.L134 0.952 pfam_RNaseA_domain,superfamily_RNaseA_domain pfam_RNaseA_domain,superfamily_RNaseA_domain - no_errors RNASE13 HGNC RRP1B 23076 genome.wustl.edu 37 21 45104458 45104458 + Nonsense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 21 45104458 45104458 C T SNP RRP1B ENST00000340648 human ensembl 70_37 +1 known nonsense c.916 p.R306* 0.993 NULL pfam_Nop52 - no_errors RRP1B HGNC SDCBP 6386 genome.wustl.edu 37 8 59493158 59493158 + Missense_Mutation SNP T T C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 8 59493158 59493158 T C SNP SDCBP ENST00000260130 human ensembl 70_37 +1 known missense c.833 p.I278T 1.000 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SDCBP HGNC SEC14L3 266629 genome.wustl.edu 37 22 30866217 30866217 + Silent SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 22 30866217 30866217 C T SNP SEC14L3 ENST00000215812 human ensembl 70_37 -1 known silent c.156 p.S52 0.826 pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L3 HGNC SEMA3A 10371 genome.wustl.edu 37 7 83640567 83640567 + Missense_Mutation SNP A A G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 7 83640567 83640567 A G SNP SEMA3A ENST00000265362 human ensembl 70_37 -1 known missense c.857 p.F286S 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3A HGNC SERINC2 347735 genome.wustl.edu 37 1 31896551 31896551 + Silent SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 31896551 31896551 C T SNP SERINC2 ENST00000373710 human ensembl 70_37 +1 known silent c.78 p.L26 1.000 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC2 HGNC SETD3 84193 genome.wustl.edu 37 14 99865319 99865319 + Silent SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 14 99865319 99865319 C T SNP SETD3 ENST00000331768 human ensembl 70_37 -1 known silent c.1482 p.E494 0.996 superfamily_Rubisco_LSMT_subst-bd pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,superfamily_Rubisco_LSMT_subst-bd - no_errors SETD3 HGNC SETDB2 83852 genome.wustl.edu 37 13 50034278 50034278 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 13 50034278 50034278 G A SNP SETDB2 ENST00000317257 human ensembl 70_37 +1 known missense c.52 p.D18N 0.999 NULL pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom - no_errors SETDB2 HGNC SFXN4 119559 genome.wustl.edu 37 10 120917551 120917551 + Silent SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 10 120917551 120917551 C T SNP SFXN4 ENST00000355697 human ensembl 70_37 -1 known silent c.384 p.L128 0.000 pfam_Mtc pfam_Mtc - no_errors SFXN4 HGNC SGCD 6444 genome.wustl.edu 37 5 155771677 155771677 + Missense_Mutation SNP A A C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 5 155771677 155771677 A C SNP SGCD ENST00000337851 human ensembl 70_37 +1 known missense c.182 p.N61T 1.000 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCD HGNC SHROOM2 357 genome.wustl.edu 37 X 9900723 9900723 + Missense_Mutation SNP C C A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 X 9900723 9900723 C A SNP SHROOM2 ENST00000380913 human ensembl 70_37 +1 known missense c.3400 p.R1134S 0.615 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC SMG1 23049 genome.wustl.edu 37 16 18841063 18841063 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 16 18841063 18841063 C T SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known missense c.9148 p.E3050K 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC SOGA2 23255 genome.wustl.edu 37 18 8784515 8784515 + Missense_Mutation SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 18 8784515 8784515 G C SNP SOGA2 ENST00000359865 human ensembl 70_37 +1 known missense c.1405 p.E469Q 1.000 NULL pfam_DUF3166 - no_errors SOGA2 HGNC SPEN 23013 genome.wustl.edu 37 1 16256225 16256225 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 1 16256225 16256225 G A SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.3490 p.D1164N 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SPHK1 8877 genome.wustl.edu 37 17 74383215 74383215 + Missense_Mutation SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 17 74383215 74383215 G C SNP SPHK1 ENST00000323374 human ensembl 70_37 +1 known missense c.961 p.D321H 0.958 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK1 HGNC SPTAN1 6709 genome.wustl.edu 37 9 131344825 131344825 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 9 131344825 131344825 G A SNP SPTAN1 ENST00000358161 human ensembl 70_37 +1 known missense c.1640 p.R547H 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC SRP68 6730 genome.wustl.edu 37 17 74041399 74041399 + Silent SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 17 74041399 74041399 G A SNP SRP68 ENST00000307877 human ensembl 70_37 -1 known silent c.1368 p.L456 0.985 NULL NULL - no_errors SRP68 HGNC STX16-NPEPL1 100534593 genome.wustl.edu 37 20 57244413 57244413 + Missense_Mutation SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 20 57244413 57244413 G C SNP STX16-NPEPL1 ENST00000530122 human ensembl 70_37 +1 known missense c.460 p.E154Q 1.000 pfam_Syntaxin_N,superfamily_t-SNARE pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX16-NPEPL1 HGNC SYNPO 11346 genome.wustl.edu 37 5 150028172 150028172 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 5 150028172 150028172 C G SNP SYNPO ENST00000394243 human ensembl 70_37 +1 known missense c.1067 p.S356C 0.020 NULL NULL - no_errors SYNPO HGNC TFCP2L1 29842 genome.wustl.edu 37 2 121995282 121995282 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 2 121995282 121995282 G A SNP TFCP2L1 ENST00000263707 human ensembl 70_37 -1 known missense c.920 p.P307L 1.000 superfamily_SAM/pointed pfam_CP2,superfamily_SAM/pointed - no_errors TFCP2L1 HGNC TGM5 9333 genome.wustl.edu 37 15 43527686 43527686 + Missense_Mutation SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 15 43527686 43527686 G C SNP TGM5 ENST00000220420 human ensembl 70_37 -1 known missense c.1695 p.I565M 0.996 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM5 HGNC TIGIT 201633 genome.wustl.edu 37 3 114014436 114014436 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 3 114014436 114014436 G A SNP TIGIT ENST00000383671 human ensembl 70_37 +1 known missense c.106 p.E36K 0.755 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like - no_errors TIGIT HGNC TMEM100 55273 genome.wustl.edu 37 17 53798408 53798408 + Silent SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 17 53798408 53798408 C T SNP TMEM100 ENST00000424486 human ensembl 70_37 -1 known silent c.24 p.E8 1.000 NULL NULL - no_errors TMEM100 HGNC TMEM43 79188 genome.wustl.edu 37 3 14170936 14170936 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 3 14170936 14170936 G A SNP TMEM43 ENST00000306077 human ensembl 70_37 +1 known missense c.37 p.E13K 0.995 NULL pfam_TMEM43_fam - no_errors TMEM43 HGNC TMEM43 79188 genome.wustl.edu 37 3 14170986 14170986 + Silent SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 3 14170986 14170986 G A SNP TMEM43 ENST00000306077 human ensembl 70_37 +1 known silent c.87 p.L29 1.000 NULL pfam_TMEM43_fam - no_errors TMEM43 HGNC TMEM43 79188 genome.wustl.edu 37 3 14170992 14170992 + Silent SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 3 14170992 14170992 G A SNP TMEM43 ENST00000306077 human ensembl 70_37 +1 known silent c.93 p.E31 1.000 NULL pfam_TMEM43_fam - no_errors TMEM43 HGNC TRIM9 114088 genome.wustl.edu 37 14 51464737 51464737 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 14 51464737 51464737 C T SNP TRIM9 ENST00000360392 human ensembl 70_37 -1 known missense c.1634 p.R545Q 1.000 NULL pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC TSC22D2 9819 genome.wustl.edu 37 3 150127938 150127938 + Silent SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 3 150127938 150127938 G A SNP TSC22D2 ENST00000361875 human ensembl 70_37 +1 known silent c.801 p.Q267 0.018 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D2 HGNC U2AF2 11338 genome.wustl.edu 37 19 56180459 56180459 + Missense_Mutation SNP G G T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 56180459 56180459 G T SNP U2AF2 ENST00000308924 human ensembl 70_37 +1 known missense c.956 p.G319V 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg - no_errors U2AF2 HGNC UBE2H 7328 genome.wustl.edu 37 7 129474842 129474842 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 7 129474842 129474842 C T SNP UBE2H ENST00000355621 human ensembl 70_37 -1 known missense c.487 p.D163N 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2H HGNC UBR3 130507 genome.wustl.edu 37 2 170930076 170930076 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 2 170930076 170930076 G A SNP UBR3 ENST00000272793 human ensembl 70_37 +1 known missense c.5158 p.E1720K 1.000 NULL pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR3 HGNC ULK1 8408 genome.wustl.edu 37 12 132393320 132393320 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 12 132393320 132393320 G A SNP ULK1 ENST00000321867 human ensembl 70_37 +1 known missense c.448 p.A150T 0.005 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,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC UQCRC2 7385 genome.wustl.edu 37 16 21994417 21994417 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 16 21994417 21994417 G A SNP UQCRC2 ENST00000561553 human ensembl 70_37 +1 putative missense c.1133 p.R378K 1.000 NULL pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors UQCRC2 HGNC URM1 81605 genome.wustl.edu 37 9 131150142 131150142 + Missense_Mutation SNP G G C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 9 131150142 131150142 G C SNP URM1 ENST00000452446 human ensembl 70_37 +1 known missense c.154 p.E52Q 1.000 pfam_Urm1,superfamily_Mopterin_synth/thiamin_S_b pfam_Urm1,superfamily_Mopterin_synth/thiamin_S_b - no_errors URM1 HGNC USHBP1 83878 genome.wustl.edu 37 19 17374921 17374921 + Silent SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 17374921 17374921 G A SNP USHBP1 ENST00000252597 human ensembl 70_37 -1 known silent c.93 p.V31 0.000 NULL pfam_USH1C-bd_PDZ_domain - no_errors USHBP1 HGNC USP38 84640 genome.wustl.edu 37 4 144106889 144106889 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 4 144106889 144106889 C G SNP USP38 ENST00000307017 human ensembl 70_37 +1 known missense c.286 p.L96V 0.995 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP38 HGNC VIT 5212 genome.wustl.edu 37 2 36986238 36986238 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 2 36986238 36986238 C T SNP VIT ENST00000457137 human ensembl 70_37 +1 known missense c.536 p.T179M 0.000 NULL pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL - no_errors VIT HGNC VNN3 55350 genome.wustl.edu 37 6 133048037 133048037 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 6 133048037 133048037 G A SNP VNN3 ENST00000207771 human ensembl 70_37 -1 known missense c.652 p.H218Y 0.427 superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors VNN3 HGNC YY1 7528 genome.wustl.edu 37 14 100705962 100705962 + Silent SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 14 100705962 100705962 C T SNP YY1 ENST00000262238 human ensembl 70_37 +1 known silent c.381 p.F127 1.000 pirsf_TF_Yin_yang pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 - no_errors YY1 HGNC ZC3H14 79882 genome.wustl.edu 37 14 89039043 89039043 + Missense_Mutation SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 14 89039043 89039043 G A SNP ZC3H14 ENST00000251038 human ensembl 70_37 +1 known missense c.553 p.D185N 1.000 NULL smart_Znf_CCCH - no_errors ZC3H14 HGNC ZC3H8 84524 genome.wustl.edu 37 2 112995977 112995977 + Silent SNP T T C TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 2 112995977 112995977 T C SNP ZC3H8 ENST00000272570 human ensembl 70_37 -1 known silent c.285 p.Q95 0.524 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H8 HGNC ZFP37 7539 genome.wustl.edu 37 9 115806340 115806340 + Silent SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 9 115806340 115806340 C T SNP ZFP37 ENST00000553380 human ensembl 70_37 -1 known silent c.603 p.Q201 0.318 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 ZFP37 HGNC ZNF14 7561 genome.wustl.edu 37 19 19823848 19823848 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 19823848 19823848 C G SNP ZNF14 ENST00000344099 human ensembl 70_37 -1 known missense c.242 p.G81A 0.006 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 ZNF14 HGNC ZNF14 7561 genome.wustl.edu 37 19 19825240 19825240 + Missense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 19825240 19825240 C G SNP ZNF14 ENST00000344099 human ensembl 70_37 -1 known missense c.60 p.L20F 0.060 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF14 HGNC ZNF184 7738 genome.wustl.edu 37 6 27420477 27420477 + Silent SNP G G A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 6 27420477 27420477 G A SNP ZNF184 ENST00000211936 human ensembl 70_37 -1 known silent c.861 p.F287 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF184 HGNC ZNF518B 85460 genome.wustl.edu 37 4 10446457 10446457 + Missense_Mutation SNP C C A TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 4 10446457 10446457 C A SNP ZNF518B ENST00000326756 human ensembl 70_37 -1 known missense c.1496 p.G499V 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF518B HGNC ZNF525 170958 genome.wustl.edu 37 19 53884257 53884257 + Nonsense_Mutation SNP C C G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 53884257 53884257 C G SNP ZNF525 ENST00000474037 human ensembl 70_37 +1 putative nonsense c.425 p.S142* 0.799 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 ZNF525 HGNC ZNF540 163255 genome.wustl.edu 37 19 38103818 38103818 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 19 38103818 38103818 C T SNP ZNF540 ENST00000316433 human ensembl 70_37 +1 known missense c.1637 p.S546F 0.998 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 ZNF540 HGNC ZNF74 7625 genome.wustl.edu 37 22 20760282 20760282 + Missense_Mutation SNP A A G TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dae06e68-c43d-468e-a526-f52e8f549873 9feea440-0b98-4652-98db-817e1bb3b066 22 20760282 20760282 A G SNP ZNF74 ENST00000356671 human ensembl 70_37 +1 known missense c.959 p.N320S 0.268 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 ZNF74 HGNC