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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ADAM17 0 genome.wustl.edu 37 2 9633946 9633946 + Silent SNP A A G TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 2 9633946 9633946 A G SNP ADAM17 ENST00000310823 human ensembl 69_37n -1 known silent c.1923 p.C641 1.000 NULL pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM17 HGNC ENSG00000151694 457 1 0.22 403 83 17.08 - - - AEBP1 0 genome.wustl.edu 37 7 44147257 44147257 + Missense_Mutation SNP C C G TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 7 44147257 44147257 C G SNP AEBP1 ENST00000223357 human ensembl 69_37n +1 known missense c.697 p.L233V 0.167 NULL pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 194 0 0.00 177 37 17.29 - - - AGBL1 0 genome.wustl.edu 37 15 86806012 86806012 + Missense_Mutation SNP G G A TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 15 86806012 86806012 G A SNP AGBL1 ENST00000441037 human ensembl 69_37n +1 known missense c.835 p.D279N 1.000 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 357 1 0.28 240 70 22.58 - - - AKAP6 0 genome.wustl.edu 37 14 33015522 33015522 + Missense_Mutation SNP G G A TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 14 33015522 33015522 G A SNP AKAP6 ENST00000280979 human ensembl 69_37n +1 known missense c.1663 p.E555K 0.665 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 164 0 0.00 156 36 18.75 - - - ANK3 0 genome.wustl.edu 37 10 61829925 61829925 + Missense_Mutation SNP C C G TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 10 61829925 61829925 C G SNP ANK3 ENST00000280772 human ensembl 69_37n -1 known missense c.10714 p.E3572Q 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 ANK3 HGNC ENSG00000151150 480 1 0.21 396 101 20.24 - - - ARGLU1 0 genome.wustl.edu 37 13 107220001 107220001 + Silent SNP C C T TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 13 107220001 107220001 C T SNP ARGLU1 ENST00000400198 human ensembl 69_37n -1 known silent c.267 p.V89 1.000 NULL NULL - no_errors ARGLU1 HGNC ENSG00000134884 66 0 0.00 24 11 30.56 - - - ARID1B 0 genome.wustl.edu 37 6 157527466 157527466 + Missense_Mutation SNP G G C TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 6 157527466 157527466 G C SNP ARID1B ENST00000367148 human ensembl 69_37n +1 known missense c.5311 p.E1771Q 0.994 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 246 0 0.00 177 80 31.01 - - - ARPP21 0 genome.wustl.edu 37 3 35785363 35785363 + Nonsense_Mutation SNP C C A TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 3 35785363 35785363 C A SNP ARPP21 ENST00000417925 human ensembl 69_37n +1 known nonsense c.1941 p.Y647* 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 229 0 0.00 217 34 13.55 - - - C10orf2 0 genome.wustl.edu 37 10 102749027 102749027 + Missense_Mutation SNP C C T TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 10 102749027 102749027 C T SNP C10orf2 ENST00000311916 human ensembl 69_37n +1 known missense c.1060 p.R354C 0.152 NULL pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfscan_DNA_helicase_DnaB-like_C - no_errors C10orf2 HGNC ENSG00000107815 75 0 0.00 60 17 21.79 - - - C1orf65 0 genome.wustl.edu 37 1 223567997 223567997 + Missense_Mutation SNP A A C TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 1 223567997 223567997 A C SNP C1orf65 ENST00000366875 human ensembl 69_37n +1 known missense c.1180 p.S394R 0.003 NULL NULL - no_errors C1orf65 HGNC ENSG00000178395 23 0 0.00 22 7 24.14 - - - C3orf24 0 genome.wustl.edu 37 3 10146177 10146177 + Missense_Mutation SNP G G C TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 3 10146177 10146177 G C SNP C3orf24 ENST00000450660 human ensembl 69_37n -1 known missense c.282 p.I94M 1.000 NULL NULL - no_errors C3orf24 HGNC ENSG00000163705 359 0 0.00 298 214 41.55 - - - C9orf3 0 genome.wustl.edu 37 9 97563249 97563249 + Silent SNP C C T TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 9 97563249 97563249 C T SNP C9orf3 ENST00000375315 human ensembl 69_37n +1 known silent c.1329 p.I443 0.523 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold - no_errors C9orf3 HGNC ENSG00000148120 128 0 0.00 75 25 25.00 - - - CAMSAP1 0 genome.wustl.edu 37 9 138774817 138774817 + Missense_Mutation SNP G G A TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 9 138774817 138774817 G A SNP CAMSAP1 ENST00000409386 human ensembl 69_37n -1 known missense c.268 p.R90C 1.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 156 0 0.00 117 33 22.00 - - - COL8A1 0 genome.wustl.edu 37 3 99514307 99514307 + Missense_Mutation SNP C C T TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 3 99514307 99514307 C T SNP COL8A1 ENST00000261037 human ensembl 69_37n +1 known missense c.1562 p.P521L 0.664 pfam_Collagen pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC ENSG00000144810 23 0 0.00 29 8 21.62 - - - CREB3L2 0 genome.wustl.edu 37 7 137597730 137597730 + Missense_Mutation SNP G G A TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 7 137597730 137597730 G A SNP CREB3L2 ENST00000452463 human ensembl 69_37n -1 known missense c.590 p.S197F 0.001 NULL NULL - no_errors CREB3L2 HGNC ENSG00000182158 156 0 0.00 54 24 30.77 - - - CSPG4 0 genome.wustl.edu 37 15 75968731 75968731 + Silent SNP C C T TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 15 75968731 75968731 C T SNP CSPG4 ENST00000308508 human ensembl 69_37n -1 known silent c.6129 p.V2043 0.413 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 38 0 0.00 17 8 32.00 - - - CUL5 0 genome.wustl.edu 37 11 107975024 107975024 + Missense_Mutation SNP G G C TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 11 107975024 107975024 G C SNP CUL5 ENST00000393094 human ensembl 69_37n +1 known missense c.2256 p.M752I 1.000 pfam_Cullin_neddylation_domain,smart_Cullin_neddylation_domain 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 CUL5 HGNC ENSG00000166266 220 0 0.00 152 21 12.14 - - - CXCL17 0 genome.wustl.edu 37 19 42946982 42946982 + Missense_Mutation SNP C C T TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 19 42946982 42946982 C T SNP CXCL17 ENST00000341918 human ensembl 69_37n -1 known missense c.3 p.M1I 0.901 NULL NULL - no_errors CXCL17 HGNC ENSG00000189377 318 0 0.00 305 51 14.25 - - - CYP2A13 0 genome.wustl.edu 37 19 41601717 41601717 + Missense_Mutation SNP C C G TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 19 41601717 41601717 C G SNP CYP2A13 ENST00000330436 human ensembl 69_37n +1 known missense c.1356 p.F452L 0.990 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A13 HGNC ENSG00000197838 430 0 0.00 268 142 34.63 - - - DNAH11 0 genome.wustl.edu 37 7 21744181 21744181 + Missense_Mutation SNP G G C TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 7 21744181 21744181 G C SNP DNAH11 ENST00000328843 human ensembl 69_37n +1 known missense c.6424 p.E2142Q 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 173 0 0.00 179 36 16.74 - - - DOCK10 0 genome.wustl.edu 37 2 225729686 225729686 + Missense_Mutation SNP G G A TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 2 225729686 225729686 G A SNP DOCK10 ENST00000258390 human ensembl 69_37n -1 known missense c.1376 p.S459F 0.075 NULL pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 218 0 0.00 145 54 27.14 - - - ENPP6 0 genome.wustl.edu 37 4 185045320 185045320 + Missense_Mutation SNP G G A TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 4 185045320 185045320 G A SNP ENPP6 ENST00000296741 human ensembl 69_37n -1 known missense c.527 p.S176F 0.927 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ENPP6 HGNC ENSG00000164303 279 0 0.00 124 54 30.34 - - - ENTPD4 0 genome.wustl.edu 37 8 23291938 23291938 + Missense_Mutation SNP G G A TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 8 23291938 23291938 G A SNP ENTPD4 ENST00000358689 human ensembl 69_37n -1 known missense c.1514 p.S505L 0.925 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD4 HGNC ENSG00000197217 299 0 0.00 229 67 22.48 - - - ERAP1 0 genome.wustl.edu 37 5 96129517 96129517 + Missense_Mutation SNP G G C TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 5 96129517 96129517 G C SNP ERAP1 ENST00000296754 human ensembl 69_37n -1 known missense c.1063 p.L355V 1.000 pfam_Peptidase_M1_N,prints_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ERAP1 HGNC ENSG00000164307 153 0 0.00 105 33 23.91 - - - ERI1 0 genome.wustl.edu 37 8 8869082 8869082 + Silent SNP G G C TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 8 8869082 8869082 G C SNP ERI1 ENST00000250263 human ensembl 69_37n +1 known silent c.318 p.L106 0.996 pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd pfam_Exonuclease_RNaseT/DNA_pol3,pfam_SAP_DNA-bd,superfamily_RNaseH-like_dom,smart_SAP_DNA-bd,smart_Exonuclease,pfscan_SAP_DNA-bd - no_errors ERI1 HGNC ENSG00000104626 213 0 0.00 200 44 18.03 - - - FAM47C 0 genome.wustl.edu 37 X 37029349 37029349 + Missense_Mutation SNP C C A TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 X 37029349 37029349 C A SNP FAM47C ENST00000358047 human ensembl 69_37n +1 known missense c.2866 p.P956T 0.028 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 298 0 0.00 234 68 22.44 - - - FAM83E 0 genome.wustl.edu 37 19 49113164 49113164 + Missense_Mutation SNP C C A TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 19 49113164 49113164 C A SNP FAM83E ENST00000263266 human ensembl 69_37n -1 known missense c.727 p.D243Y 1.000 pfam_DUF1669 pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase - no_errors FAM83E HGNC ENSG00000105523 13 0 0.00 5 11 68.75 - - - FARP2 0 genome.wustl.edu 37 2 242373613 242373613 + Missense_Mutation SNP G G C TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 2 242373613 242373613 G C SNP FARP2 ENST00000264042 human ensembl 69_37n +1 known missense c.908 p.R303T 1.000 pfam_FERM_PH-like_C,pfscan_FERM_domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FARP2 HGNC ENSG00000006607 551 0 0.00 417 91 17.91 - - - FASTKD5 0 genome.wustl.edu 37 20 3128515 3128515 + Missense_Mutation SNP G G A TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 20 3128515 3128515 G A SNP FASTKD5 ENST00000380266 human ensembl 69_37n -1 known missense c.1202 p.S401L 1.000 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD5 HGNC ENSG00000215251 189 0 0.00 148 44 22.92 - - - FAT3 0 genome.wustl.edu 37 11 92533525 92533525 + Missense_Mutation SNP G G C TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 11 92533525 92533525 G C SNP FAT3 ENST00000298047 human ensembl 69_37n +1 known missense c.7346 p.G2449A 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT3 HGNC ENSG00000165323 234 0 0.00 172 38 18.10 - - - FSIP2 0 genome.wustl.edu 37 2 186672616 186672616 + Missense_Mutation SNP C C G TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 2 186672616 186672616 C G SNP FSIP2 ENST00000343098 human ensembl 69_37n +1 known missense c.18850 p.P6284A 0.933 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 59 0 0.00 51 9 15.00 - - - GPR101 0 genome.wustl.edu 37 X 136112852 136112852 + Missense_Mutation SNP C C T TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 X 136112852 136112852 C T SNP GPR101 ENST00000298110 human ensembl 69_37n -1 known missense c.982 p.E328K 0.050 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR101 HGNC ENSG00000165370 521 0 0.00 306 81 20.93 - - - GPR112 0 genome.wustl.edu 37 X 135405374 135405374 + Missense_Mutation SNP G G A TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 X 135405374 135405374 G A SNP GPR112 ENST00000370652 human ensembl 69_37n +1 known missense c.508 p.E170K 0.006 pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 427 0 0.00 267 91 25.35 - - - GRID1 0 genome.wustl.edu 37 10 88123815 88123815 + Missense_Mutation SNP C C G TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 10 88123815 88123815 C G SNP GRID1 ENST00000327946 human ensembl 69_37n -1 known missense c.118 p.V40L 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 154 0 0.00 111 27 19.42 - - - HOXD8 0 genome.wustl.edu 37 2 176995644 176995644 + Missense_Mutation SNP C C G TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 2 176995644 176995644 C G SNP HOXD8 ENST00000313173 human ensembl 69_37n +1 known missense c.550 p.Q184E 1.000 superfamily_Homeodomain-like pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXD8 HGNC ENSG00000175879 19 0 0.00 10 4 28.57 - - - IFT172 0 genome.wustl.edu 37 2 27707103 27707103 + Silent SNP G G A TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 2 27707103 27707103 G A SNP IFT172 ENST00000260570 human ensembl 69_37n -1 known silent c.327 p.F109 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 285 0 0.00 238 48 16.78 - - - IGDCC4 0 genome.wustl.edu 37 15 65694819 65694819 + Silent SNP G G A TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 15 65694819 65694819 G A SNP IGDCC4 ENST00000352385 human ensembl 69_37n -1 novel silent c.570 p.I190 0.966 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGDCC4 HGNC ENSG00000103742 117 0 0.00 83 31 26.96 - - - KIF1B 0 genome.wustl.edu 37 1 10421003 10421003 + Missense_Mutation SNP G G C TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 1 10421003 10421003 G C SNP KIF1B ENST00000263934 human ensembl 69_37n +1 known missense c.3934 p.E1312Q 1.000 pfam_Kinesin-like pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 568 0 0.00 224 98 30.34 - - - LINGO2 0 genome.wustl.edu 37 9 27948861 27948861 + Missense_Mutation SNP C C T TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 9 27948861 27948861 C T SNP LINGO2 ENST00000308675 human ensembl 69_37n -1 known missense c.1809 p.M603I 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LINGO2 HGNC ENSG00000174482 254 0 0.00 212 54 20.30 - - - LMLN 0 genome.wustl.edu 37 3 197751548 197751548 + Silent SNP C C T TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 3 197751548 197751548 C T SNP LMLN ENST00000330198 human ensembl 69_37n +1 known silent c.1545 p.G515 0.993 pfam_Peptidase_M8 pfam_Peptidase_M8 - no_errors LMLN HGNC ENSG00000185621 267 2 0.74 198 164 45.18 - - - LRBA 0 genome.wustl.edu 37 4 151829582 151829582 + Frame_Shift_Del DEL G G - TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 4 151829582 151829582 G - DEL LRBA ENST00000357115 human ensembl 69_37n -1 known frame_shift_del c.1397 p.A466fs 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 371 3 0.80 199 77 27.02 - - - LRRC19 0 genome.wustl.edu 37 9 26996420 26996420 + Missense_Mutation SNP C C T TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 9 26996420 26996420 C T SNP LRRC19 ENST00000380055 human ensembl 69_37n -1 known missense c.673 p.E225K 0.999 smart_Cys-rich_flank_reg_C smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC19 HGNC ENSG00000184434 314 0 0.00 277 50 15.24 - - - LRTM1 0 genome.wustl.edu 37 3 54952782 54952782 + Missense_Mutation SNP C C T TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 3 54952782 54952782 C T SNP LRTM1 ENST00000273286 human ensembl 69_37n -1 known missense c.742 p.G248S 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM1 HGNC ENSG00000144771 133 0 0.00 87 27 23.68 - - - MAML2 0 genome.wustl.edu 37 11 96074861 96074861 + Missense_Mutation SNP C C T TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 11 96074861 96074861 C T SNP MAML2 ENST00000440572 human ensembl 69_37n -1 known missense c.199 p.D67N 1.000 pfam_Neuroggenic_mastermind-like_N pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 52 0 0.00 28 7 20.00 - - - MAP3K15 0 genome.wustl.edu 37 X 19390837 19390837 + Silent SNP G G A TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 X 19390837 19390837 G A SNP MAP3K15 ENST00000338883 human ensembl 69_37n -1 known silent c.3042 p.I1014 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K15 HGNC ENSG00000180815 127 0 0.00 86 19 18.10 - - - MSH6 0 genome.wustl.edu 37 2 48032158 48032158 + Missense_Mutation SNP T T A TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 2 48032158 48032158 T A SNP MSH6 ENST00000234420 human ensembl 69_37n +1 known missense c.3548 p.I1183K 1.000 pfam_DNA_mismatch_repair_MutS_C,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_PWWP,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP - no_errors MSH6 HGNC ENSG00000116062 412 3 0.72 287 170 37.20 - - - NGLY1 0 genome.wustl.edu 37 3 25761536 25761536 + Silent SNP T T G TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 3 25761536 25761536 T G SNP NGLY1 ENST00000280700 human ensembl 69_37n -1 known silent c.1758 p.R586 0.017 superfamily_Galactose-bd-like pfam_PUB_domain,pfam_Transglutaminase-like,pfam_Rad4/PNGase_transGLS-fold,pfam_Peptide_N_glycanase_PAW_dom,superfamily_Galactose-bd-like,smart_PUG-dom,smart_Transglutaminase-like,smart_Peptide_N_glycanase_PAW_dom - no_errors NGLY1 HGNC ENSG00000151092 341 0 0.00 216 64 22.86 - - - NOTCH4 0 genome.wustl.edu 37 6 32190509 32190509 + Missense_Mutation SNP C C A TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 6 32190509 32190509 C A SNP NOTCH4 ENST00000375023 human ensembl 69_37n -1 known missense c.230 p.G77V 0.999 smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Notch,pfscan_EG-like_dom pfam_EGF-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 142 0 0.00 101 18 15.13 - - - OGFRL1 0 genome.wustl.edu 37 6 72011289 72011289 + Missense_Mutation SNP G G A TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 6 72011289 72011289 G A SNP OGFRL1 ENST00000370435 human ensembl 69_37n +1 known missense c.893 p.R298Q 0.904 pfam_OGF_rcpt pfam_OGF_rcpt - no_errors OGFRL1 HGNC ENSG00000119900 72 0 0.00 60 15 20.00 - - - OTOGL 0 genome.wustl.edu 37 12 80770937 80770937 + Missense_Mutation SNP C C T TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 12 80770937 80770937 C T SNP OTOGL ENST00000298820 human ensembl 69_37n +1 novel missense c.2012 p.S671L 0.963 smart_Cys_knot_C,pfscan_Cys_knot_C pfam_VWF_type-D,superfamily_TIL_dom,smart_Unchr_dom_Cys-rich,smart_Cys_knot_C,pfscan_Cys_knot_C - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region OTOGL HGNC ENSG00000165899 212 0 0.00 186 45 19.48 - - - PACRG 0 genome.wustl.edu 37 6 163483209 163483209 + Nonsense_Mutation SNP C C G TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 6 163483209 163483209 C G SNP PACRG ENST00000534958 human ensembl 69_37n +1 putative nonsense c.65 p.S22* 1.000 pfam_Parkin_co-regulated_protein pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PACRG HGNC ENSG00000112530 322 0 0.00 119 51 30.00 - - - PACS2 0 genome.wustl.edu 37 14 105834442 105834442 + Missense_Mutation SNP C C A TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 14 105834442 105834442 C A SNP PACS2 ENST00000458164 human ensembl 69_37n +1 known missense c.618 p.F206L 1.000 NULL pfam_Phosphofurin_acidic_CS-1 - no_errors PACS2 HGNC ENSG00000179364 68 0 0.00 64 9 12.33 - - - PCDHA8 0 genome.wustl.edu 37 5 140222591 140222591 + Missense_Mutation SNP C C T TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 5 140222591 140222591 C T SNP PCDHA8 ENST00000531613 human ensembl 69_37n +1 known missense c.1685 p.A562V 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 82 0 0.00 32 31 49.21 - - - PDCL3 0 genome.wustl.edu 37 2 101188161 101188161 + Missense_Mutation SNP G G C TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 2 101188161 101188161 G C SNP PDCL3 ENST00000264254 human ensembl 69_37n +1 known missense c.478 p.D160H 1.000 pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,tigrfam_Antitoxin_Phd/YefM - no_errors PDCL3 HGNC ENSG00000115539 351 0 0.00 316 69 17.92 - - - PGD 0 genome.wustl.edu 37 1 10477061 10477061 + Missense_Mutation SNP C C T TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 1 10477061 10477061 C T SNP PGD ENST00000270776 human ensembl 69_37n +1 known missense c.862 p.R288W 0.997 pfam_6PGDH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_6PGDH_decarbox pfam_6PGDH_C,pfam_6PGDH_NADP-bd,superfamily_6-PGluconate_DH_C-like,tigrfam_6PGDH_decarbox - no_errors PGD HGNC ENSG00000142657 263 1 0.38 94 66 40.99 - - - PIGN 0 genome.wustl.edu 37 18 59828374 59828374 + Silent SNP C C A TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 18 59828374 59828374 C A SNP PIGN ENST00000357637 human ensembl 69_37n -1 known silent c.213 p.P71 0.973 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_GPI_EtnP_transferase_1_C,pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGN HGNC ENSG00000197563 504 0 0.00 224 91 28.89 - - - PKHD1 0 genome.wustl.edu 37 6 51934282 51934282 + Missense_Mutation SNP C C T TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 6 51934282 51934282 C T SNP PKHD1 ENST00000371117 human ensembl 69_37n -1 known missense c.751 p.D251N 1.000 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 423 0 0.00 369 75 16.82 - - - PKHD1L1 0 genome.wustl.edu 37 8 110418568 110418568 + Silent SNP C C T TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 8 110418568 110418568 C T SNP PKHD1L1 ENST00000378402 human ensembl 69_37n +1 known silent c.1674 p.F558 0.784 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 199 0 0.00 191 44 18.72 - - - POTEJ 0 genome.wustl.edu 37 2 131390121 131390121 + Missense_Mutation SNP G G C TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 2 131390121 131390121 G C SNP POTEJ ENST00000409602 human ensembl 69_37n +1 novel missense c.1190 p.S397T 0.000 NULL pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like - no_errors POTEJ HGNC ENSG00000222038 37 0 0.00 20 3 13.04 - - - PPEF1 0 genome.wustl.edu 37 X 18767947 18767947 + Missense_Mutation SNP G G A TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 X 18767947 18767947 G A SNP PPEF1 ENST00000361511 human ensembl 69_37n +1 known missense c.273 p.M91I 0.000 pirsf_Ser/Thr-Pase_EF-hand_contain pfam_Metallo_PEstase_dom,pfam_EF-hand,pfam_PPP_dom,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_HAND_2,pfscan_IQ_motif_EF-hand-BS,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPEF1 HGNC ENSG00000086717 186 1 0.53 146 40 21.51 - - - PPP6R1 0 genome.wustl.edu 37 19 55750982 55750982 + Missense_Mutation SNP C C T TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 19 55750982 55750982 C T SNP PPP6R1 ENST00000412770 human ensembl 69_37n -1 known missense c.1633 p.E545K 0.992 superfamily_ARM-type_fold pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R1 HGNC ENSG00000105063 215 0 0.00 174 34 16.35 - - - PSG1 0 genome.wustl.edu 37 19 43382380 43382380 + Missense_Mutation SNP C C G TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 19 43382380 43382380 C G SNP PSG1 ENST00000312439 human ensembl 69_37n -1 known missense c.115 p.E39Q 0.005 pfam_Ig_V-set pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG1 HGNC ENSG00000231924 1034 10 0.95 648 345 34.09 - - - PTPRF 0 genome.wustl.edu 37 1 44035447 44035447 + Missense_Mutation SNP C C T TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 1 44035447 44035447 C T SNP PTPRF ENST00000359947 human ensembl 69_37n +1 known missense c.566 p.S189L 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 94 0 0.00 99 12 10.81 - - - PTPRM 0 genome.wustl.edu 37 18 8296428 8296428 + Silent SNP G G A TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 18 8296428 8296428 G A SNP PTPRM ENST00000400060 human ensembl 69_37n +1 known silent c.2820 p.K940 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 488 2 0.41 280 95 25.33 - - - PTX3 0 genome.wustl.edu 37 3 157160269 157160269 + Missense_Mutation SNP C C T TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 3 157160269 157160269 C T SNP PTX3 ENST00000295927 human ensembl 69_37n +1 known missense c.647 p.T216I 1.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_LamG-like,prints_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_LamG-like,prints_Pentaxin - no_errors PTX3 HGNC ENSG00000163661 166 0 0.00 165 34 17.09 - - - RICTOR 0 genome.wustl.edu 37 5 38944651 38944651 + Missense_Mutation SNP C C T TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 5 38944651 38944651 C T SNP RICTOR ENST00000296782 human ensembl 69_37n -1 known missense c.4882 p.D1628N 1.000 NULL superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 278 0 0.00 266 55 17.13 - - - ROBO2 0 genome.wustl.edu 37 3 77607107 77607107 + Missense_Mutation SNP G G C TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 3 77607107 77607107 G C SNP ROBO2 ENST00000461745 human ensembl 69_37n +1 known missense c.1244 p.R415T 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO2 HGNC ENSG00000185008 124 0 0.00 87 22 19.64 - - - SHANK2 0 genome.wustl.edu 37 11 70331543 70331543 + Missense_Mutation SNP G G T TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 11 70331543 70331543 G T SNP SHANK2 ENST00000338508 human ensembl 69_37n -1 known missense c.4858 p.P1620T 1.000 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 159 0 0.00 76 26 25.49 - - - SLC22A4 0 genome.wustl.edu 37 5 131657966 131657966 + Missense_Mutation SNP C C G TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 5 131657966 131657966 C G SNP SLC22A4 ENST00000200652 human ensembl 69_37n +1 known missense c.742 p.L248V 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A4 HGNC ENSG00000197208 540 2 0.37 339 90 20.98 - - - SLC35A1 0 genome.wustl.edu 37 6 88221166 88221166 + Silent SNP C C G TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 6 88221166 88221166 C G SNP SLC35A1 ENST00000369552 human ensembl 69_37n +1 known silent c.936 p.L312 0.916 pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A1 HGNC ENSG00000164414 297 0 0.00 142 45 24.06 - - - SPTA1 0 genome.wustl.edu 37 1 158648273 158648273 + Missense_Mutation SNP C C T TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 1 158648273 158648273 C T SNP SPTA1 ENST00000368148 human ensembl 69_37n -1 known missense c.730 p.A244T 0.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 223 2 0.89 230 91 28.26 - - - SRPR 0 genome.wustl.edu 37 11 126136424 126136424 + Missense_Mutation SNP T T C TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 11 126136424 126136424 T C SNP SRPR ENST00000332118 human ensembl 69_37n -1 known missense c.787 p.T263A 0.001 pfam_Sig_recog_particle_rcpt_asu_N pfam_Sig_recog_particle_rcpt_asu_N,pfam_Signal_recog_part_SRP54_GTPase,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_Signal_recog_part_SRP54_GTPase - no_errors SRPR HGNC ENSG00000182934 243 0 0.00 206 30 12.10 - - - SRSF2 0 genome.wustl.edu 37 17 74732502 74732502 + Missense_Mutation SNP G G C TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 17 74732502 74732502 G C SNP SRSF2 ENST00000359995 human ensembl 69_37n -1 known missense c.407 p.S136C 0.997 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF2 HGNC ENSG00000161547 50 0 0.00 21 7 25.00 - - - SYT14 0 genome.wustl.edu 37 1 210334230 210334230 + Missense_Mutation SNP C C G TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 1 210334230 210334230 C G SNP SYT14 ENST00000422431 human ensembl 69_37n +1 known missense c.1703 p.S568C 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYT14 HGNC ENSG00000143469 358 0 0.00 513 70 12.01 - - - TACC2 0 genome.wustl.edu 37 10 123842793 123842793 + Missense_Mutation SNP A A G TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 10 123842793 123842793 A G SNP TACC2 ENST00000334433 human ensembl 69_37n +1 known missense c.778 p.T260A 0.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 75 0 0.00 42 25 37.31 - - - TEX15 0 genome.wustl.edu 37 8 30695443 30695443 + Missense_Mutation SNP T T C TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 8 30695443 30695443 T C SNP TEX15 ENST00000256246 human ensembl 69_37n -1 known missense c.7208 p.N2403S 0.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 516 1 0.19 441 106 19.34 - - - TRMT2B 0 genome.wustl.edu 37 X 100274321 100274321 + Missense_Mutation SNP C C A TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 X 100274321 100274321 C A SNP TRMT2B ENST00000372935 human ensembl 69_37n -1 known missense c.1240 p.D414Y 0.342 pfam_U5_MeTrfase pfam_U5_MeTrfase,pfam_Small_mtfrase_dom - no_errors TRMT2B HGNC ENSG00000188917 407 0 0.00 283 88 23.72 - - - UNC79 0 genome.wustl.edu 37 14 93943917 93943917 + Silent SNP G G A TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 14 93943917 93943917 G A SNP UNC79 ENST00000553484 human ensembl 69_37n +1 known silent c.462 p.S154 0.984 NULL superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 287 0 0.00 285 60 17.39 - - - USP46 0 genome.wustl.edu 37 4 53492238 53492238 + Missense_Mutation SNP C C T TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 4 53492238 53492238 C T SNP USP46 ENST00000441222 human ensembl 69_37n -1 known missense c.508 p.E170K 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP46 HGNC ENSG00000109189 654 0 0.00 407 109 21.08 - - - WDR43 0 genome.wustl.edu 37 2 29135533 29135533 + Missense_Mutation SNP G G A TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 2 29135533 29135533 G A SNP WDR43 ENST00000407426 human ensembl 69_37n +1 known missense c.563 p.R188Q 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR43 HGNC ENSG00000163811 334 0 0.00 309 71 18.59 - - - ZFP64 0 genome.wustl.edu 37 20 50701660 50701660 + Silent SNP T T C TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 20 50701660 50701660 T C SNP ZFP64 ENST00000361387 human ensembl 69_37n -1 known silent c.1374 p.K458 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 85 0 0.00 81 23 22.12 - - - ZNF608 0 genome.wustl.edu 37 5 123976948 123976948 + Missense_Mutation SNP G G C TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 5 123976948 123976948 G C SNP ZNF608 ENST00000306315 human ensembl 69_37n -1 known missense c.4447 p.Q1483E 1.000 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 193 0 0.00 110 28 20.14 - - - ZNF695 0 genome.wustl.edu 37 1 247150728 247150728 + Missense_Mutation SNP C C G TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 1 247150728 247150728 C G SNP ZNF695 ENST00000339986 human ensembl 69_37n -1 known missense c.1089 p.Q363H 0.002 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 ZNF695 HGNC ENSG00000197472 218 0 0.00 174 33 15.87 - - - ZSCAN16 0 genome.wustl.edu 37 6 28097614 28097614 + Silent SNP G G A TCGA-BH-A1EV-01A-11D-A135-09 TCGA-BH-A1EV-11A-24D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43fbe2a9-078a-4be2-b67c-b855329091f0 5a28c2e5-4aec-49d5-beaa-3546005f5ba5 6 28097614 28097614 G A SNP ZSCAN16 ENST00000340487 human ensembl 69_37n +1 known silent c.933 p.Q311 0.997 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZSCAN16 HGNC ENSG00000196812 234 2 0.85 103 62 37.58 - - -