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 ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ACTBL2 0 genome.wustl.edu 37 5 56777529 56777529 + Silent SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 5 56777529 56777529 G T SNP ACTBL2 ENST00000423391 human ensembl 74_37 -1 known silent c.1006 p.R336 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTBL2 HGNC ENSG00000169067 79 0 0.00 55 3 5.17 ADIPOR1 0 genome.wustl.edu 37 1 202913041 202913041 + Missense_Mutation SNP A A G TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 202913041 202913041 A G SNP ADIPOR1 ENST00000340990 human ensembl 74_37 -1 known missense c.650 p.M217T 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors ADIPOR1 HGNC ENSG00000159346 tier1 - - 31 0 0.00 28 4 12.50 ADIPOR1 0 genome.wustl.edu 37 1 202915710 202915710 + Missense_Mutation SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 202915710 202915710 G T SNP ADIPOR1 ENST00000340990 human ensembl 74_37 -1 known missense c.287 p.P96Q 1.000 NULL pfam_HlyIII-related - no_errors ADIPOR1 HGNC ENSG00000159346 56 0 0.00 53 3 5.36 AHCTF1 0 genome.wustl.edu 37 1 247030980 247030980 + Missense_Mutation SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 247030980 247030980 G T SNP AHCTF1 ENST00000326225 human ensembl 74_37 -1 known missense c.3249 p.S1083R 0.000 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors AHCTF1 HGNC ENSG00000153207 tier1 - - 66 0 0.00 72 4 5.26 AHNAK2 0 genome.wustl.edu 37 14 105404775 105404775 + Silent SNP T T C TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 14 105404775 105404775 T C SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.17013 p.R5671 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 tier1 - - 93 0 0.00 72 19 20.88 AKR1A1 0 genome.wustl.edu 37 1 46035590 46035590 + Missense_Mutation SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 46035590 46035590 G T SNP AKR1A1 ENST00000351829 human ensembl 74_37 +1 known missense c.940 p.A314S 1.000 superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1A1 HGNC ENSG00000117448 tier1 - - 43 0 0.00 27 6 18.18 ANK3 0 genome.wustl.edu 37 10 61932103 61932103 + Missense_Mutation SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 10 61932103 61932103 G A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.2441 p.T814I 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 39 0 0.00 36 3 7.69 ANKRD20A4 0 genome.wustl.edu 37 9 69420323 69420323 + Missense_Mutation SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 9 69420323 69420323 G T SNP ANKRD20A4 ENST00000357336 human ensembl 74_37 +1 known missense c.1213 p.D405Y 0.002 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A4 HGNC ENSG00000172014 tier1 - - 87 0 0.00 133 19 12.50 ANKRD30B 0 genome.wustl.edu 37 18 14784464 14784464 + Silent SNP T T A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 18 14784464 14784464 T A SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known silent c.1602 p.P534 0.030 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 tier1 - - 139 0 0.00 117 23 16.43 ANKRD44 0 genome.wustl.edu 37 2 197870538 197870538 + Missense_Mutation SNP C C G TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 2 197870538 197870538 C G SNP ANKRD44 ENST00000328737 human ensembl 74_37 -1 known missense c.2152 p.A718P 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ENSG00000065413 23 0 0.00 35 6 14.63 ANKRD50 0 genome.wustl.edu 37 4 125631531 125631531 + Missense_Mutation SNP T T C TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 4 125631531 125631531 T C SNP ANKRD50 ENST00000504087 human ensembl 74_37 -1 known missense c.136 p.S46G 0.327 superfamily_P-loop_NTPase pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC ENSG00000151458 tier1 - - 73 0 0.00 38 10 20.83 ARFGEF2 0 genome.wustl.edu 37 20 47538534 47538534 + Silent SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 20 47538534 47538534 C T SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known silent c.108 p.C36 1.000 NULL pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 tier1 - - 58 0 0.00 61 15 19.74 ASXL3 0 genome.wustl.edu 37 18 31319646 31319646 + Missense_Mutation SNP A A T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 18 31319646 31319646 A T SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.2278 p.I760L 0.895 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 18 0 0.00 16 3 15.79 ATG3 0 genome.wustl.edu 37 3 112253120 112253120 + Missense_Mutation SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 3 112253120 112253120 G A SNP ATG3 ENST00000283290 human ensembl 74_37 -1 known missense c.859 p.H287Y 1.000 pfam_Autophagy-rel_prot_3_C pfam_Autophagy-rel_prot_3_N,pfam_Autophagy-rel_prot_3,pfam_Autophagy-rel_prot_3_C - no_errors ATG3 HGNC ENSG00000144848 tier1 - - 64 0 0.00 80 27 25.23 ATP8B3 0 genome.wustl.edu 37 19 1809675 1809675 + Missense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 19 1809675 1809675 C T SNP ATP8B3 ENST00000531925 human ensembl 74_37 -1 known missense c.257 p.R86K 0.986 NULL NULL - no_errors ATP8B3 HGNC ENSG00000130270 tier1 - - 46 0 0.00 38 12 24.00 ATXN8OS 0 genome.wustl.edu 37 13 70713518 70713518 + RNA SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 13 70713518 70713518 G A SNP ATXN8OS ENST00000414504 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ATXN8OS HGNC ENSG00000230223 50 0 0.00 27 3 10.00 BPTF 0 genome.wustl.edu 37 17 65905779 65905779 + Missense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 17 65905779 65905779 C T SNP BPTF ENST00000321892 human ensembl 74_37 +1 known missense c.3272 p.P1091L 0.981 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 tier1 - - 46 0 0.00 30 5 14.29 BRCA2 0 genome.wustl.edu 37 13 32954213 32954213 + Missense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 13 32954213 32954213 C T SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.9187 p.P3063S 0.998 pfam_BRCA2_OB_3,superfamily_NA-bd_OB-fold,pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 tier1 rs80359176 - 93 0 0.00 47 13 21.67 C16orf82 0 genome.wustl.edu 37 16 27079902 27079902 + RNA SNP C C A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 16 27079902 27079902 C A SNP C16orf82 ENST00000418886 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C16orf82 HGNC ENSG00000234186 13 0 0.00 10 3 23.08 C1orf173 0 genome.wustl.edu 37 1 75038188 75038188 + Missense_Mutation SNP G G C TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 75038188 75038188 G C SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.3206 p.S1069C 0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 tier1 - - 107 0 0.00 75 20 21.05 C2orf68 0 genome.wustl.edu 37 2 85838668 85838668 + Missense_Mutation SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 2 85838668 85838668 G T SNP C2orf68 ENST00000409734 human ensembl 74_37 -1 known missense c.349 p.P117T 0.002 NULL pfam_UPF0561 - no_errors C2orf68 HGNC ENSG00000168887 tier1 - - 59 0 0.00 67 4 5.63 C7 0 genome.wustl.edu 37 5 40937498 40937498 + RNA SNP T T A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 5 40937498 40937498 T A SNP C7 ENST00000489457 human ensembl 74_37 +1 putative rna NULL NULL 0.003 - - - no_errors C7 HGNC ENSG00000112936 tier1 - - 21 0 0.00 10 6 37.50 C9orf78 0 genome.wustl.edu 37 9 132596001 132596001 + RNA DEL A A - TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 9 132596001 132596001 A - DEL C9orf78 ENST00000461762 human ensembl 74_37 -1 known rna NULL NULL 0.115 - - - no_errors C9orf78 HGNC ENSG00000136819 tier1 25 0 0.00 18 2 10.00 CAPN13 0 genome.wustl.edu 37 2 31010157 31010157 + Missense_Mutation SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 2 31010157 31010157 G T SNP CAPN13 ENST00000295055 human ensembl 74_37 -1 known missense c.35 p.S12Y 0.003 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN13 HGNC ENSG00000162949 tier1 - - 51 0 0.00 65 4 5.80 CAPNS1 0 genome.wustl.edu 37 19 36632053 36632053 + Missense_Mutation SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 19 36632053 36632053 G A SNP CAPNS1 ENST00000588780 human ensembl 74_37 +1 known missense c.140 p.G47D 0.363 NULL pfscan_EF_hand_dom - no_errors CAPNS1 HGNC ENSG00000126247 18 0 0.00 13 7 35.00 CAPZA1 0 genome.wustl.edu 37 1 113212985 113212985 + RNA DEL T T - TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 113212985 113212985 T - DEL CAPZA1 ENST00000476936 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CAPZA1 HGNC ENSG00000116489 tier1 34 0 0.00 33 3 8.33 CCDC142 0 genome.wustl.edu 37 2 74701784 74701784 + Silent SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 2 74701784 74701784 C T SNP CCDC142 ENST00000393965 human ensembl 74_37 -1 known silent c.2142 p.P714 0.011 NULL NULL - no_errors CCDC142 HGNC ENSG00000135637 tier1 - - 57 0 0.00 60 14 18.92 CCDC151 0 genome.wustl.edu 37 19 11537524 11537524 + Silent SNP C C A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 19 11537524 11537524 C A SNP CCDC151 ENST00000356392 human ensembl 74_37 -1 known silent c.693 p.L231 1.000 NULL NULL - no_errors CCDC151 HGNC ENSG00000198003 tier1 - - 52 0 0.00 17 13 43.33 CCDC37 0 genome.wustl.edu 37 3 126155263 126155263 + RNA SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 3 126155263 126155263 G T SNP CCDC37 ENST00000506204 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CCDC37 HGNC ENSG00000163885 tier1 - - 59 0 0.00 47 4 7.84 CD300LG 0 genome.wustl.edu 37 17 41926113 41926113 + Silent SNP C C A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 17 41926113 41926113 C A SNP CD300LG ENST00000317310 human ensembl 74_37 +1 known silent c.231 p.G77 0.001 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300LG HGNC ENSG00000161649 tier1 - - 15 0 0.00 24 5 17.24 CD93 0 genome.wustl.edu 37 20 23066789 23066791 + In_Frame_Del DEL AGC AGC - TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 AGC AGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 20 23066789 23066791 AGC - DEL CD93 ENST00000246006 human ensembl 74_37 -1 known in_frame_del c.41_39 p.L15in_frame_del 0.176:0.289:0.517 pirsf_CD93/CD141 pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 tier1 24 0 0.00 14 3 17.65 CDH10 0 genome.wustl.edu 37 5 24535839 24535839 + Missense_Mutation SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 5 24535839 24535839 G T SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known missense c.619 p.P207T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 tier1 - - 41 0 0.00 31 5 13.89 CDHR5 0 genome.wustl.edu 37 11 617432 617432 + Silent SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 11 617432 617432 G A SNP CDHR5 ENST00000358353 human ensembl 74_37 -1 known silent c.2457 p.S819 0.000 NULL superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin - no_errors CDHR5 HGNC ENSG00000099834 tier1 - - 43 0 0.00 21 6 22.22 CEACAM19 0 genome.wustl.edu 37 19 45182195 45182195 + Missense_Mutation SNP A A G TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 19 45182195 45182195 A G SNP CEACAM19 ENST00000403660 human ensembl 74_37 +1 known missense c.646 p.T216A 0.544 NULL pfam_Ig_V-set - no_errors CEACAM19 HGNC ENSG00000186567 tier1 - - 80 0 0.00 71 4 5.33 CIAO1 0 genome.wustl.edu 37 2 96934312 96934312 + Missense_Mutation SNP G G C TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 2 96934312 96934312 G C SNP CIAO1 ENST00000488633 human ensembl 74_37 +1 known missense c.607 p.D203H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CIAO1 HGNC ENSG00000144021 tier1 - - 49 0 0.00 60 11 15.49 CLLU1 0 genome.wustl.edu 37 12 92818799 92818799 + Missense_Mutation SNP C C A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 12 92818799 92818799 C A SNP CLLU1 ENST00000378485 human ensembl 74_37 +1 known missense c.343 p.Q115K 0.014 NULL NULL - no_errors CLLU1 HGNC ENSG00000257127 tier1 - - 42 0 0.00 42 7 14.29 CLSPN 0 genome.wustl.edu 37 1 36203660 36203662 + In_Frame_Del DEL TTC TTC - TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 36203660 36203662 TTC - DEL CLSPN ENST00000318121 human ensembl 74_37 -1 known in_frame_del c.3597_3595 p.E1199in_frame_del 0.998:1.000:0.950 NULL NULL - no_errors CLSPN HGNC ENSG00000092853 tier1 28 0 0.00 17 3 15.00 CLTC 0 genome.wustl.edu 37 17 57742246 57742246 + Missense_Mutation SNP A A T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 17 57742246 57742246 A T SNP CLTC ENST00000269122 human ensembl 74_37 +1 known missense c.1620 p.E540D 1.000 superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTC HGNC ENSG00000141367 tier1 - - 55 0 0.00 57 12 17.39 COG5 0 genome.wustl.edu 37 7 106897227 106897227 + Nonsense_Mutation SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 7 106897227 106897227 G A SNP COG5 ENST00000297135 human ensembl 74_37 -1 known nonsense c.1792 p.Q598* 1.000 NULL pfam_Cog5 - no_errors COG5 HGNC ENSG00000164597 tier1 - - 53 0 0.00 38 7 15.56 COL11A1 0 genome.wustl.edu 37 1 103354301 103354301 + Frame_Shift_Del DEL G G - TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 103354301 103354301 G - DEL COL11A1 ENST00000358392 human ensembl 74_37 -1 known frame_shift_del c.4568 p.P1523fs 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 tier1 47 0 0.00 52 6 10.34 COPS5 0 genome.wustl.edu 37 8 67971544 67971544 + Missense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 8 67971544 67971544 C T SNP COPS5 ENST00000357849 human ensembl 74_37 -1 known missense c.280 p.D94N 1.000 pfam_JAB_MPN_dom,smart_JAB_MPN_dom pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors COPS5 HGNC ENSG00000121022 tier1 - - 44 0 0.00 40 10 20.00 CPAMD8 0 genome.wustl.edu 37 19 17119359 17119359 + Missense_Mutation SNP C C A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 19 17119359 17119359 C A SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.656 p.G219V 1.000 pfam_A2M_N pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 tier1 - - 43 0 0.00 31 7 18.42 CPNE8 0 genome.wustl.edu 37 12 39047698 39047698 + Missense_Mutation SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 12 39047698 39047698 G T SNP CPNE8 ENST00000331366 human ensembl 74_37 -1 known missense c.1681 p.Q561K 1.000 NULL pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE8 HGNC ENSG00000139117 tier1 - - 69 0 0.00 69 4 5.48 CPS1 0 genome.wustl.edu 37 2 211541847 211541847 + Missense_Mutation SNP T T C TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 2 211541847 211541847 T C SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.4409 p.L1470P 1.000 pfam_MGS-like_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 tier1 - - 67 0 0.00 72 12 14.29 CREB3L4 0 genome.wustl.edu 37 1 153945466 153945468 + In_Frame_Del DEL AAG AAG - TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 153945466 153945468 AAG - DEL CREB3L4 ENST00000271889 human ensembl 74_37 +1 known in_frame_del c.655_657 p.K220in_frame_del 1.000:1.000:1.000 pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L4 HGNC ENSG00000143578 tier1 60 0 0.00 42 5 10.64 CYB5RL 0 genome.wustl.edu 37 1 54640384 54640384 + Missense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 54640384 54640384 C T SNP CYB5RL ENST00000419823 human ensembl 74_37 -1 known missense c.856 p.A286T 0.975 pfam_OxRdtase_FAD/NAD-bd,prints_NADH-Cyt_B5_reductase pfam_OxRdtase_FAD-bd_dom,pfam_Oxidoreductase-like_N,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Phe_hydroxylase - no_errors CYB5RL HGNC ENSG00000215883 tier1 - - 56 0 0.00 49 16 24.62 DDOST 0 genome.wustl.edu 37 1 20987472 20987472 + Missense_Mutation SNP T T A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 20987472 20987472 T A SNP DDOST ENST00000375048 human ensembl 74_37 -1 known missense c.218 p.E73V 1.000 pfam_WBP1 pfam_WBP1 - no_errors DDOST HGNC ENSG00000244038 tier1 - - 75 0 0.00 46 22 32.35 DDX41 0 genome.wustl.edu 37 5 176940721 176940721 + Missense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 5 176940721 176940721 C T SNP DDX41 ENST00000507955 human ensembl 74_37 -1 known missense c.1063 p.E355K 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX41 HGNC ENSG00000183258 tier1 - - 49 0 0.00 31 5 13.89 DFNB31 0 genome.wustl.edu 37 9 117168862 117168862 + Missense_Mutation SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 9 117168862 117168862 G A SNP DFNB31 ENST00000362057 human ensembl 74_37 -1 known missense c.2009 p.A670V 0.998 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC ENSG00000095397 tier1 - - 79 0 0.00 36 42 53.85 DGKD 0 genome.wustl.edu 37 2 234367025 234367025 + Silent SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 2 234367025 234367025 G A SNP DGKD ENST00000264057 human ensembl 74_37 +1 known silent c.2676 p.Q892 1.000 pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKD HGNC ENSG00000077044 tier1 - - 32 0 0.00 39 4 9.30 DIAPH1 0 genome.wustl.edu 37 5 140953564 140953566 + In_Frame_Del DEL GGA GGA - TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 5 140953564 140953566 GGA - DEL DIAPH1 ENST00000253811 human ensembl 74_37 -1 known in_frame_del c.1853_1851 p.P620in_frame_del 0.010:0.008:0.007 pfam_Formin_homology_1 pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DIAPH1 HGNC ENSG00000131504 tier1 24 0 0.00 11 3 21.43 DMD 0 genome.wustl.edu 37 X 32503127 32503127 + Silent SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 X 32503127 32503127 G A SNP DMD ENST00000357033 human ensembl 74_37 -1 known silent c.2712 p.P904 0.997 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 - - 23 0 0.00 9 14 60.87 DMD 0 genome.wustl.edu 37 X 32503128 32503128 + Missense_Mutation SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 X 32503128 32503128 G T SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.2711 p.P904H 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 - - 23 0 0.00 9 14 60.87 DMXL1 0 genome.wustl.edu 37 5 118576136 118576136 + Missense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 5 118576136 118576136 C T SNP DMXL1 ENST00000539542 human ensembl 74_37 +1 known missense c.8674 p.L2892F 1.000 superfamily_WD40_repeat_dom pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 tier1 - - 39 0 0.00 15 6 28.57 DOCK3 0 genome.wustl.edu 37 3 50927459 50927459 + Silent SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 3 50927459 50927459 G A SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known silent c.165 p.G55 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 ENSG00000088538 tier1 - - 48 0 0.00 29 17 36.17 DPY19L2P1 0 genome.wustl.edu 37 7 35121037 35121037 + RNA SNP A A C TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 7 35121037 35121037 A C SNP DPY19L2P1 ENST00000458672 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 tier1 - - 15 0 0.00 4 4 50.00 EBPL 0 genome.wustl.edu 37 13 50235208 50235209 + Frame_Shift_Ins INS - - A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 13 50235208 50235209 - A INS EBPL ENST00000242827 human ensembl 74_37 -1 known frame_shift_ins c.517_516 p.N172fs 1.000:0.997 pfam_EBP pfam_EBP - no_errors EBPL HGNC ENSG00000123179 tier1 53 0 0.00 35 3 7.89 EIF3E 0 genome.wustl.edu 37 8 109229586 109229586 + Missense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 8 109229586 109229586 C T SNP EIF3E ENST00000220849 human ensembl 74_37 -1 known missense c.826 p.D276N 1.000 pirsf_eIF3e pfam_eIF3e_N,pfam_PCI_dom,smart_PCI_dom,pirsf_eIF3e - no_errors EIF3E HGNC ENSG00000104408 tier1 - - 54 0 0.00 50 41 45.05 EIF3J 0 genome.wustl.edu 37 15 44846786 44846786 + Silent SNP A A G TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 15 44846786 44846786 A G SNP EIF3J ENST00000261868 human ensembl 74_37 +1 known silent c.330 p.P110 0.998 pfam_eIF3j pfam_eIF3j - no_errors EIF3J HGNC ENSG00000104131 tier1 - - 58 0 0.00 45 13 22.41 ELMO2 0 genome.wustl.edu 37 20 45017766 45017766 + Missense_Mutation SNP C C G TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 20 45017766 45017766 C G SNP ELMO2 ENST00000439931 human ensembl 74_37 -1 known missense c.337 p.D113H 1.000 superfamily_ARM-type_fold pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO2 HGNC ENSG00000062598 tier1 - - 42 0 0.00 66 16 19.51 EML4 0 genome.wustl.edu 37 2 42508024 42508024 + Silent SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 2 42508024 42508024 G A SNP EML4 ENST00000318522 human ensembl 74_37 +1 known silent c.702 p.R234 0.998 pfam_HELP pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML4 HGNC ENSG00000143924 tier1 - - 65 0 0.00 72 4 5.26 EML5 0 genome.wustl.edu 37 14 89124637 89124637 + Silent SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 14 89124637 89124637 G A SNP EML5 ENST00000554922 human ensembl 74_37 -1 known silent c.3771 p.G1257 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000165521 tier1 - - 49 0 0.00 51 9 15.00 ENSG00000232765 0 genome.wustl.edu 37 X 55308300 55308300 + RNA SNP A A G TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 X 55308300 55308300 A G SNP ENSG00000232765 ENST00000440645 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-382F24.2 Clone_based_vega_gene ENSG00000232765 tier1 - - 35 0 0.00 7 16 69.57 ENSG00000237234 0 genome.wustl.edu 37 6 112476699 112476699 + RNA SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 6 112476699 112476699 G T SNP ENSG00000237234 ENST00000425503 human ensembl 74_37 +1 known rna NULL NULL 0.156 - - - no_errors RP1-142L7.5 Clone_based_vega_gene ENSG00000237234 tier1 - - 27 0 0.00 20 3 13.04 ENSG00000252083 0 genome.wustl.edu 37 5 23972401 23972401 + RNA SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 5 23972401 23972401 C T SNP ENSG00000252083 ENST00000516274 human ensembl 74_37 -1 novel rna NULL NULL 0.569 - - - no_errors SNORA40 RFAM ENSG00000252083 tier1 - - 12 0 0.00 10 6 37.50 ENSG00000257743 0 genome.wustl.edu 37 7 141864787 141864787 + Silent SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 7 141864787 141864787 C T SNP ENSG00000257743 ENST00000477922 human ensembl 74_37 +1 putative silent c.2616 p.T872 0.000 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,superfamily_P_trefoil,smart_P_trefoil - no_errors RP11-1220K2.2 Clone_based_vega_gene ENSG00000257743 tier1 - - 34 0 0.00 47 8 14.29 ENSG00000258603 0 genome.wustl.edu 37 14 74083849 74083849 + RNA SNP C C G TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 14 74083849 74083849 C G SNP ENSG00000258603 ENST00000555011 human ensembl 74_37 -1 known rna NULL NULL 0.971 - - - no_errors RP3-414A15.10 Clone_based_vega_gene ENSG00000258603 tier1 - - 59 0 0.00 39 24 38.10 ENSG00000260999 0 genome.wustl.edu 37 16 68961461 68961461 + RNA SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 16 68961461 68961461 C T SNP ENSG00000260999 ENST00000562790 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-521L9.1 Clone_based_vega_gene ENSG00000260999 tier1 - - 99 0 0.00 89 97 52.15 ERN2 0 genome.wustl.edu 37 16 23706340 23706340 + Missense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 16 23706340 23706340 C T SNP ERN2 ENST00000256797 human ensembl 74_37 -1 known missense c.2044 p.V682M 1.000 pfam_Prot_kinase_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_dom pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom - no_errors ERN2 HGNC ENSG00000134398 tier1 - - 73 0 0.00 54 19 26.03 ESYT3 0 genome.wustl.edu 37 3 138183220 138183220 + Nonsense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 3 138183220 138183220 C T SNP ESYT3 ENST00000389567 human ensembl 74_37 +1 known nonsense c.949 p.Q317* 0.068 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom - no_errors ESYT3 HGNC ENSG00000158220 tier1 - - 37 0 0.00 30 7 18.92 FAM205B 0 genome.wustl.edu 37 9 34832891 34832891 + RNA SNP C C G TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 9 34832891 34832891 C G SNP FAM205B ENST00000455647 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM205B HGNC ENSG00000257198 tier1 - - 129 0 0.00 70 30 30.00 FAM205B 0 genome.wustl.edu 37 9 34833094 34833094 + RNA SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 9 34833094 34833094 G T SNP FAM205B ENST00000455647 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM205B HGNC ENSG00000257198 tier1 - - 111 0 0.00 71 4 5.33 FAM78A 0 genome.wustl.edu 37 9 134134513 134134513 + RNA SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 9 134134513 134134513 C T SNP FAM78A ENST00000247295 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM78A HGNC ENSG00000126882 tier1 - - 83 0 0.00 113 9 7.38 FANCM 0 genome.wustl.edu 37 14 45644391 45644391 + Missense_Mutation SNP C C G TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 14 45644391 45644391 C G SNP FANCM ENST00000267430 human ensembl 74_37 +1 known missense c.2434 p.H812D 0.041 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 32 0 0.00 38 4 9.52 FASTKD3 0 genome.wustl.edu 37 5 7867383 7867383 + Missense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 5 7867383 7867383 C T SNP FASTKD3 ENST00000264669 human ensembl 74_37 -1 known missense c.814 p.E272K 0.006 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD3 HGNC ENSG00000124279 24 0 0.00 18 3 14.29 FHOD3 0 genome.wustl.edu 37 18 34298061 34298061 + Missense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 18 34298061 34298061 C T SNP FHOD3 ENST00000257209 human ensembl 74_37 +1 known missense c.2275 p.R759W 1.000 NULL pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 tier1 - - 105 0 0.00 89 23 20.54 FMN2 0 genome.wustl.edu 37 1 240370836 240370836 + Silent SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 240370836 240370836 G T SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known silent c.2724 p.L908 0.614 smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 tier1 - - 45 0 0.00 50 8 13.79 FOXR2 0 genome.wustl.edu 37 X 55650456 55650456 + Silent SNP G G C TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 X 55650456 55650456 G C SNP FOXR2 ENST00000339140 human ensembl 74_37 +1 known silent c.312 p.L104 0.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXR2 HGNC ENSG00000189299 tier1 - - 20 0 0.00 4 5 55.56 FSIP2 0 genome.wustl.edu 37 2 186669080 186669080 + Missense_Mutation SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 2 186669080 186669080 G A SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.15314 p.R5105K 0.003 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 tier1 - - 42 0 0.00 48 9 15.79 FZD7 0 genome.wustl.edu 37 2 202899887 202899887 + Missense_Mutation SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 2 202899887 202899887 G T SNP FZD7 ENST00000286201 human ensembl 74_37 +1 known missense c.517 p.G173C 0.977 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD7 HGNC ENSG00000155760 tier1 - - 74 0 0.00 50 4 7.41 GJB4 0 genome.wustl.edu 37 1 35227148 35227148 + Missense_Mutation SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 35227148 35227148 G A SNP GJB4 ENST00000339480 human ensembl 74_37 +1 known missense c.293 p.R98H 1.000 pfam_Connexin_N pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin303 - no_errors GJB4 HGNC ENSG00000189433 45 0 0.00 35 2 5.41 GLB1 0 genome.wustl.edu 37 3 33060008 33060008 + Missense_Mutation SNP T T G TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 3 33060008 33060008 T G SNP GLB1 ENST00000445488 human ensembl 74_37 -1 known missense c.1423 p.S475R 0.995 NULL pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1 HGNC ENSG00000170266 tier1 - - 92 0 0.00 55 16 22.54 GLP2R 0 genome.wustl.edu 37 17 9760839 9760839 + Silent SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 17 9760839 9760839 C T SNP GLP2R ENST00000262441 human ensembl 74_37 +1 known silent c.711 p.N237 0.654 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GLP2R HGNC ENSG00000065325 tier1 - - 94 0 0.00 68 14 17.07 GLRA3 0 genome.wustl.edu 37 4 175644129 175644129 + RNA SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 4 175644129 175644129 G T SNP GLRA3 ENST00000436738 human ensembl 74_37 -1 putative rna NULL NULL 0.032 - - - no_errors GLRA3 HGNC ENSG00000145451 tier1 - - 47 0 0.00 36 4 10.00 GPR89A 0 genome.wustl.edu 37 1 145787778 145787778 + Missense_Mutation SNP A A C TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 145787778 145787778 A C SNP GPR89A ENST00000313835 human ensembl 74_37 -1 known missense c.903 p.I301M 1.000 pfam_ABA_GPCR_dom pfam_ABA_GPCR_dom,pfam_Golgi_pH-regulator_cons_dom - no_errors GPR89A HGNC ENSG00000117262 tier1 - - 52 0 0.00 53 14 20.90 HAGH 0 genome.wustl.edu 37 16 1859322 1859322 + Missense_Mutation SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 16 1859322 1859322 G A SNP HAGH ENST00000397356 human ensembl 74_37 -1 known missense c.889 p.R297C 1.000 tigrfam_Hydroxyacylglutathione_Hdrlase pfam_Beta-lactamas-like,smart_Beta-lactamas-like,tigrfam_Hydroxyacylglutathione_Hdrlase - no_errors HAGH HGNC ENSG00000063854 tier1 - - 52 0 0.00 56 4 6.67 HIP1R 0 genome.wustl.edu 37 12 123346457 123346457 + RNA SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 12 123346457 123346457 G A SNP HIP1R ENST00000537322 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HIP1R HGNC ENSG00000130787 tier1 - - 13 0 0.00 22 5 18.52 HIST1H4L 0 genome.wustl.edu 37 6 27841109 27841109 + Missense_Mutation SNP T T A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 6 27841109 27841109 T A SNP HIST1H4L ENST00000355981 human ensembl 74_37 -1 known missense c.180 p.K60N 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4L HGNC ENSG00000198558 tier1 - - 106 0 0.00 53 19 26.39 HIST1H4L 0 genome.wustl.edu 37 6 27841110 27841110 + Missense_Mutation SNP T T C TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 6 27841110 27841110 T C SNP HIST1H4L ENST00000355981 human ensembl 74_37 -1 known missense c.179 p.K60R 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4L HGNC ENSG00000198558 tier1 - - 104 0 0.00 54 18 25.00 HIVEP1 0 genome.wustl.edu 37 6 12125243 12125243 + Nonsense_Mutation SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 6 12125243 12125243 G T SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known nonsense c.5215 p.E1739* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 tier1 - - 26 0 0.00 20 4 16.67 IARS2 0 genome.wustl.edu 37 1 220318982 220318982 + Silent SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 220318982 220318982 C T SNP IARS2 ENST00000302637 human ensembl 74_37 +1 known silent c.2883 p.L961 0.329 superfamily_tRNAsynth_1a_anticodon-bd pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS2 HGNC ENSG00000067704 35 0 0.00 27 2 6.90 ICMT 0 genome.wustl.edu 37 1 6294509 6294509 + Missense_Mutation SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 6294509 6294509 G A SNP ICMT ENST00000362035 human ensembl 74_37 -1 known missense c.347 p.P116L 1.000 NULL NULL - no_errors ICMT HGNC ENSG00000116237 tier1 - - 39 0 0.00 33 14 29.79 IDH3B 0 genome.wustl.edu 37 20 2641145 2641145 + Missense_Mutation SNP T T C TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 20 2641145 2641145 T C SNP IDH3B ENST00000380843 human ensembl 74_37 -1 known missense c.623 p.K208R 1.000 pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD - no_errors IDH3B HGNC ENSG00000101365 tier1 - - 82 0 0.00 45 13 22.41 IL17D 0 genome.wustl.edu 37 13 21277449 21277449 + RNA SNP T T C TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 13 21277449 21277449 T C SNP IL17D ENST00000498088 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors IL17D HGNC ENSG00000172458 tier1 - - 47 0 0.00 27 4 12.90 INO80D 0 genome.wustl.edu 37 2 206869439 206869439 + Missense_Mutation SNP G G C TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 2 206869439 206869439 G C SNP INO80D ENST00000403263 human ensembl 74_37 -1 known missense c.2737 p.L913V 1.000 NULL NULL - no_errors INO80D HGNC ENSG00000114933 tier1 - - 64 0 0.00 59 8 11.94 IQUB 0 genome.wustl.edu 37 7 123097574 123097574 + Nonsense_Mutation SNP G G C TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 7 123097574 123097574 G C SNP IQUB ENST00000324698 human ensembl 74_37 -1 known nonsense c.2054 p.S685* 1.000 NULL pfam_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors IQUB HGNC ENSG00000164675 tier1 - - 50 0 0.00 67 6 8.22 KANK1 0 genome.wustl.edu 37 9 712721 712721 + Missense_Mutation SNP C C G TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 9 712721 712721 C G SNP KANK1 ENST00000382297 human ensembl 74_37 +1 known missense c.1955 p.T652S 0.997 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 tier1 - - 27 0 0.00 10 10 50.00 KCNQ3 0 genome.wustl.edu 37 8 133492507 133492507 + Silent SNP G G C TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 8 133492507 133492507 G C SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known silent c.273 p.T91 1.000 prints_K_chnl_volt-dep_KCNQ3 pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 tier1 - - 93 0 0.00 100 28 21.88 KEAP1 0 genome.wustl.edu 37 19 10610154 10610154 + Missense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 19 10610154 10610154 C T SNP KEAP1 ENST00000171111 human ensembl 74_37 -1 known missense c.556 p.G186S 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KEAP1 HGNC ENSG00000079999 tier1 - - 24 0 0.00 18 3 14.29 KIAA0319L 0 genome.wustl.edu 37 1 36020037 36020037 + Missense_Mutation SNP T T C TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 36020037 36020037 T C SNP KIAA0319L ENST00000325722 human ensembl 74_37 -1 known missense c.56 p.Y19C 0.923 NULL pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319L HGNC ENSG00000142687 tier1 - - 47 0 0.00 30 13 30.23 KIAA0355 0 genome.wustl.edu 37 19 34839998 34839998 + Missense_Mutation SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 19 34839998 34839998 G T SNP KIAA0355 ENST00000299505 human ensembl 74_37 +1 known missense c.2765 p.G922V 1.000 NULL NULL - no_errors KIAA0355 HGNC ENSG00000166398 tier1 - - 82 0 0.00 76 4 5.00 KIAA1429 0 genome.wustl.edu 37 8 95547194 95547194 + Silent SNP A A G TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 8 95547194 95547194 A G SNP KIAA1429 ENST00000297591 human ensembl 74_37 -1 known silent c.357 p.C119 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 tier1 - - 66 0 0.00 48 22 31.43 KLF1 0 genome.wustl.edu 37 19 12995819 12995819 + Silent SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 19 12995819 12995819 C T SNP KLF1 ENST00000264834 human ensembl 74_37 -1 known silent c.969 p.S323 0.004 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF1 HGNC ENSG00000105610 tier1 - - 53 0 0.00 35 6 14.63 KLF7 0 genome.wustl.edu 37 2 207988643 207988643 + Silent SNP A A G TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 2 207988643 207988643 A G SNP KLF7 ENST00000309446 human ensembl 74_37 -1 known silent c.588 p.S196 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF7 HGNC ENSG00000118263 tier1 - - 57 0 0.00 27 9 25.00 KLHDC2 0 genome.wustl.edu 37 14 50249303 50249303 + Missense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 14 50249303 50249303 C T SNP KLHDC2 ENST00000298307 human ensembl 74_37 +1 known missense c.1088 p.S363F 1.000 NULL pfam_Kelch_2 - no_errors KLHDC2 HGNC ENSG00000165516 tier1 - - 36 0 0.00 28 4 12.50 KLHL14 0 genome.wustl.edu 37 18 30260215 30260215 + Missense_Mutation SNP T T C TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 18 30260215 30260215 T C SNP KLHL14 ENST00000359358 human ensembl 74_37 -1 known missense c.1505 p.Q502R 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL14 HGNC ENSG00000197705 tier1 - - 54 0 0.00 41 12 22.64 KLHL22 0 genome.wustl.edu 37 22 20819524 20819524 + Missense_Mutation SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 22 20819524 20819524 G A SNP KLHL22 ENST00000328879 human ensembl 74_37 -1 known missense c.733 p.R245W 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL22 HGNC ENSG00000099910 tier1 - - 49 0 0.00 246 17 6.46 KMT2E 0 genome.wustl.edu 37 7 104703927 104703927 + Missense_Mutation SNP A A G TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 7 104703927 104703927 A G SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known missense c.316 p.I106V 0.999 superfamily_Znf_FYVE_PHD pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 tier1 - - 38 0 0.00 49 12 19.67 KRT8 0 genome.wustl.edu 37 12 53292281 53292281 + Missense_Mutation SNP T T A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 12 53292281 53292281 T A SNP KRT8 ENST00000293308 human ensembl 74_37 -1 known missense c.1225 p.M409L 0.979 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT8 HGNC ENSG00000170421 tier1 - - 89 0 0.00 82 13 13.68 LAMA2 0 genome.wustl.edu 37 6 129475680 129475680 + Missense_Mutation SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 6 129475680 129475680 G A SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.1058 p.C353Y 1.000 pfam_EGF_laminin,smart_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 tier1 - - 46 0 0.00 21 7 25.00 LAMB2 0 genome.wustl.edu 37 3 49166737 49166737 + Missense_Mutation SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 3 49166737 49166737 G T SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known missense c.1539 p.S513R 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 tier1 - - 22 0 0.00 15 4 21.05 LBP 0 genome.wustl.edu 37 20 36982828 36982828 + Silent SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 20 36982828 36982828 G A SNP LBP ENST00000217407 human ensembl 74_37 +1 known silent c.513 p.S171 0.000 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors LBP HGNC ENSG00000129988 26 0 0.00 25 5 16.67 LCT 0 genome.wustl.edu 37 2 136579638 136579638 + Missense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 2 136579638 136579638 C T SNP LCT ENST00000264162 human ensembl 74_37 -1 known missense c.938 p.G313E 0.996 NULL pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 tier1 - - 81 0 0.00 53 12 18.46 LGSN 0 genome.wustl.edu 37 6 63989979 63989979 + Missense_Mutation SNP C C G TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 6 63989979 63989979 C G SNP LGSN ENST00000370657 human ensembl 74_37 -1 known missense c.1477 p.E493Q 1.000 NULL pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta - no_errors LGSN HGNC ENSG00000146166 tier1 - - 35 0 0.00 16 4 20.00 LIN7C 0 genome.wustl.edu 37 11 27523398 27523398 + Missense_Mutation SNP T T C TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 11 27523398 27523398 T C SNP LIN7C ENST00000278193 human ensembl 74_37 -1 known missense c.107 p.Q36R 1.000 pfam_L27_C,smart_L27,pirsf_Lin-7_homologue,pfscan_L27 pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ - no_errors LIN7C HGNC ENSG00000148943 tier1 - - 65 0 0.00 60 4 6.25 LINC00937 0 genome.wustl.edu 37 12 8542937 8542937 + RNA SNP C C A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 12 8542937 8542937 C A SNP LINC00937 ENST00000420040 human ensembl 74_37 -1 known rna NULL NULL 0.039 - - - no_errors LINC00937 HGNC ENSG00000226091 tier1 - - 27 0 0.00 48 9 15.79 LOC101928102 0 genome.wustl.edu 37 9 44869983 44869983 + Missense_Mutation SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 9 44869983 44869983 G T SNP LOC101928102 ENST00000448436 human ensembl 74_37 +1 putative missense c.119 p.C40F 0.546 NULL NULL - no_errors RP11-160N1.10 Clone_based_vega_gene ENSG00000204814 tier1 - - 340 0 0.00 252 23 8.36 LOC728715 0 genome.wustl.edu 37 12 9720700 9720700 + RNA SNP A A G TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 12 9720700 9720700 A G SNP LOC728715 ENST00000520314 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-726G1.1 Clone_based_vega_gene ENSG00000214776 9 0 0.00 13 3 18.75 LOC730102 0 genome.wustl.edu 37 1 178006918 178006918 + RNA SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 178006918 178006918 G A SNP LOC730102 ENST00000476232 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-568K15.1 Clone_based_vega_gene ENSG00000242193 tier1 - - 26 0 0.00 26 9 25.71 LRIG2 0 genome.wustl.edu 37 1 113667283 113667283 + RNA DEL T T - TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 113667283 113667283 T - DEL LRIG2 ENST00000466161 human ensembl 74_37 +1 known rna NULL NULL 0.014 - - - no_errors LRIG2 HGNC ENSG00000198799 tier1 8 0 0.00 5 6 54.55 LRRC66 0 genome.wustl.edu 37 4 52861261 52861261 + Missense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 4 52861261 52861261 C T SNP LRRC66 ENST00000343457 human ensembl 74_37 -1 known missense c.1927 p.A643T 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC66 HGNC ENSG00000188993 tier1 - - 42 0 0.00 36 11 23.40 MAGEC3 0 genome.wustl.edu 37 X 140985578 140985578 + Missense_Mutation SNP C C A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 X 140985578 140985578 C A SNP MAGEC3 ENST00000298296 human ensembl 74_37 +1 known missense c.1892 p.A631E 0.021 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 tier1 - - 59 0 0.00 46 22 32.35 MAP3K9 0 genome.wustl.edu 37 14 71209128 71209128 + Missense_Mutation SNP C C A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 14 71209128 71209128 C A SNP MAP3K9 ENST00000555993 human ensembl 74_37 -1 known missense c.1507 p.G503C 1.000 pirsf_MAPKKK9/10/11,superfamily_Kinase-like_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K9 HGNC ENSG00000006432 tier1 - - 53 0 0.00 48 16 25.00 MAPK3 0 genome.wustl.edu 37 16 30129094 30129094 + Silent SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 16 30129094 30129094 C T SNP MAPK3 ENST00000263025 human ensembl 74_37 -1 known silent c.672 p.K224 1.000 pfam_Prot_kinase_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_dom,prints_MAPK_ERK3/4 pfam_Prot_kinase_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_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4 - no_errors MAPK3 HGNC ENSG00000102882 tier1 - - 40 0 0.00 26 8 23.53 MASP2 0 genome.wustl.edu 37 1 11105562 11105562 + Silent SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 11105562 11105562 C T SNP MASP2 ENST00000400897 human ensembl 74_37 -1 known silent c.447 p.A149 0.069 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors MASP2 HGNC ENSG00000009724 tier1 - - 140 0 0.00 112 28 20.00 MCC 0 genome.wustl.edu 37 5 112362988 112362988 + RNA SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 5 112362988 112362988 G T SNP MCC ENST00000514701 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors MCC HGNC ENSG00000171444 tier1 - - 83 0 0.00 76 4 5.00 MDN1 0 genome.wustl.edu 37 6 90459388 90459388 + Silent SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 6 90459388 90459388 C T SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known silent c.3489 p.A1163 0.953 pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 tier1 - - 38 0 0.00 11 7 38.89 MFSD8 0 genome.wustl.edu 37 4 128864988 128864988 + Missense_Mutation SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 4 128864988 128864988 G T SNP MFSD8 ENST00000296468 human ensembl 74_37 -1 known missense c.358 p.L120I 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD8 HGNC ENSG00000164073 36 0 0.00 35 2 5.41 MGAM 0 genome.wustl.edu 37 7 141740561 141740561 + Missense_Mutation SNP G G C TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 7 141740561 141740561 G C SNP MGAM ENST00000549489 human ensembl 74_37 +1 known missense c.2413 p.E805Q 0.001 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 tier1 - - 58 0 0.00 52 13 20.00 MIR3664 0 genome.wustl.edu 37 11 70718410 70718411 + RNA INS - - A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 11 70718410 70718411 - A INS MIR3664 ENST00000579074 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors MIR3664 HGNC ENSG00000263744 tier1 53 0 0.00 37 29 43.94 MIR3664 0 genome.wustl.edu 37 11 70718415 70718415 + RNA SNP A A G TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 11 70718415 70718415 A G SNP MIR3664 ENST00000579074 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors MIR3664 HGNC ENSG00000263744 tier1 - - 47 0 0.00 30 26 46.43 MIR567 0 genome.wustl.edu 37 3 111831723 111831724 + RNA INS - - AAA TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 3 111831723 111831724 - AAA INS MIR567 ENST00000385205 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors MIR567 HGNC ENSG00000207940 tier1 40 0 0.00 32 4 11.11 MIR744 0 genome.wustl.edu 37 17 11985228 11985228 + RNA SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 17 11985228 11985228 C T SNP MIR744 ENST00000578242 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR744 HGNC ENSG00000266297 tier1 - - 40 0 0.00 41 7 14.58 MNDA 0 genome.wustl.edu 37 1 158815756 158815756 + Missense_Mutation SNP C C A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 158815756 158815756 C A SNP MNDA ENST00000368141 human ensembl 74_37 +1 known missense c.950 p.S317Y 0.002 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors MNDA HGNC ENSG00000163563 tier1 - - 74 0 0.00 78 29 26.85 MTMR4 0 genome.wustl.edu 37 17 56569953 56569953 + Missense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 17 56569953 56569953 C T SNP MTMR4 ENST00000323456 human ensembl 74_37 -1 known missense c.3329 p.R1110H 1.000 pfam_Znf_FYVE,smart_Znf_FYVE pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR4 HGNC ENSG00000108389 tier1 - - 42 0 0.00 37 14 27.45 MUC16 0 genome.wustl.edu 37 19 9073177 9073177 + Missense_Mutation SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 19 9073177 9073177 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.14269 p.P4757S 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 90 0 0.00 63 21 25.00 MYADM 0 genome.wustl.edu 37 19 54377333 54377333 + Missense_Mutation SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 19 54377333 54377333 G T SNP MYADM ENST00000336967 human ensembl 74_37 +1 known missense c.550 p.A184S 1.000 pfam_Marvel pfam_Marvel - no_errors MYADM HGNC ENSG00000179820 tier1 - - 53 0 0.00 27 10 27.03 MYH1 0 genome.wustl.edu 37 17 10408304 10408304 + Missense_Mutation SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 17 10408304 10408304 G T SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known missense c.2514 p.F838L 1.000 superfamily_P-loop_NTPase pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 tier1 - - 83 0 0.00 43 45 51.14 MYO18B 0 genome.wustl.edu 37 22 26299712 26299712 + Nonsense_Mutation SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 22 26299712 26299712 G T SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known nonsense c.5062 p.E1688* 0.793 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 31 0 0.00 37 2 5.13 MYO7B 0 genome.wustl.edu 37 2 128370116 128370116 + Silent SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 2 128370116 128370116 C T SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known silent c.3258 p.P1086 1.000 smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 tier1 - - 31 0 0.00 32 9 21.95 NCOA4 0 genome.wustl.edu 37 10 51584855 51584855 + Missense_Mutation SNP G G C TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 10 51584855 51584855 G C SNP NCOA4 ENST00000452682 human ensembl 74_37 +1 known missense c.1002 p.E334D 0.471 pfam_ARA70 pfam_ARA70 - no_errors NCOA4 HGNC ENSG00000138293 tier1 - - 58 0 0.00 52 14 21.21 NDUFA8 0 genome.wustl.edu 37 9 124914553 124914553 + Silent SNP C C A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 9 124914553 124914553 C A SNP NDUFA8 ENST00000373768 human ensembl 74_37 -1 known silent c.186 p.L62 0.998 pirsf_NADH_Ub_cplx-1_asu_su-8 pfam_CHCH,pirsf_NADH_Ub_cplx-1_asu_su-8 - no_errors NDUFA8 HGNC ENSG00000119421 tier1 - - 23 0 0.00 25 11 30.56 NKRF 0 genome.wustl.edu 37 X 118722358 118722358 + RNA DEL T T - TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 X 118722358 118722358 T - DEL NKRF ENST00000487600 human ensembl 74_37 -1 known rna NULL NULL 0.949 - - - no_errors NKRF HGNC ENSG00000186416 tier1 20 0 0.00 36 5 12.20 NME8 0 genome.wustl.edu 37 7 37934120 37934120 + Missense_Mutation SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 7 37934120 37934120 G T SNP NME8 ENST00000199447 human ensembl 74_37 +1 known missense c.1452 p.K484N 0.004 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase - no_errors NME8 HGNC ENSG00000086288 tier1 - - 46 0 0.00 61 12 16.44 NPTX2 0 genome.wustl.edu 37 7 98256586 98256586 + Missense_Mutation SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 7 98256586 98256586 G A SNP NPTX2 ENST00000265634 human ensembl 74_37 +1 known missense c.998 p.G333D 1.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTX2 HGNC ENSG00000106236 tier1 - - 46 0 0.00 45 14 23.73 NUMBL 0 genome.wustl.edu 37 19 41173875 41173877 + In_Frame_Del DEL TGC TGC - TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 19 41173875 41173877 TGC - DEL NUMBL ENST00000252891 human ensembl 74_37 -1 known in_frame_del c.1328_1326 p.Q446in_frame_del 0.967:0.971:0.977 pirsf_Numb/numb-like pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom - no_errors NUMBL HGNC ENSG00000105245 tier1 26 0 0.00 16 3 15.79 NUP214 0 genome.wustl.edu 37 9 134019999 134019999 + Missense_Mutation SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 9 134019999 134019999 G A SNP NUP214 ENST00000451030 human ensembl 74_37 +1 known missense c.1627 p.A543T 0.008 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 tier1 - - 32 0 0.00 50 4 7.41 OAS2 0 genome.wustl.edu 37 12 113440810 113440810 + Missense_Mutation SNP G G C TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 12 113440810 113440810 G C SNP OAS2 ENST00000342315 human ensembl 74_37 +1 known missense c.1082 p.C361S 0.001 pfscan_2-5-oligoadenylate_synth_N pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS2 HGNC ENSG00000111335 tier1 - - 60 0 0.00 45 7 13.46 OAT 0 genome.wustl.edu 37 10 126097158 126097158 + Missense_Mutation SNP T T C TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 10 126097158 126097158 T C SNP OAT ENST00000368845 human ensembl 74_37 -1 known missense c.473 p.Y158C 0.923 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_Orn_aminotrans pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_Orn_aminotrans - no_errors OAT HGNC ENSG00000065154 tier1 - - 63 0 0.00 41 16 28.07 OBSCN 0 genome.wustl.edu 37 1 228434246 228434246 + Missense_Mutation SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 228434246 228434246 G T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.3775 p.A1259S 0.999 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 70 0 0.00 64 16 20.00 OLFM3 0 genome.wustl.edu 37 1 102312449 102312449 + Silent SNP T T A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 102312449 102312449 T A SNP OLFM3 ENST00000338858 human ensembl 74_37 -1 known silent c.81 p.P27 1.000 NULL pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM3 HGNC ENSG00000118733 tier1 - - 101 0 0.00 68 23 25.27 OMA1 0 genome.wustl.edu 37 1 58993006 58993006 + Missense_Mutation SNP T T C TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 58993006 58993006 T C SNP OMA1 ENST00000371226 human ensembl 74_37 -1 known missense c.1142 p.Y381C 0.554 pfam_Peptidase_M48 pfam_Peptidase_M48 - no_errors OMA1 HGNC ENSG00000162600 tier1 - - 58 0 0.00 43 10 18.87 OR4A16 0 genome.wustl.edu 37 11 55110883 55110883 + Silent SNP C C A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 11 55110883 55110883 C A SNP OR4A16 ENST00000314721 human ensembl 74_37 +1 known silent c.207 p.A69 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A16 HGNC ENSG00000181961 tier1 - - 45 0 0.00 41 7 14.58 OR4K14 0 genome.wustl.edu 37 14 20482510 20482510 + Silent SNP T T C TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 14 20482510 20482510 T C SNP OR4K14 ENST00000305045 human ensembl 74_37 -1 known silent c.843 p.P281 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K14 HGNC ENSG00000169484 tier1 - - 30 0 0.00 13 6 30.00 OR52L1 0 genome.wustl.edu 37 11 6007674 6007674 + Missense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 11 6007674 6007674 C T SNP OR52L1 ENST00000332249 human ensembl 74_37 -1 known missense c.487 p.G163R 0.046 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52L1 HGNC ENSG00000183313 tier1 - - 64 0 0.00 28 13 31.71 OR7D4 0 genome.wustl.edu 37 19 9324685 9324685 + Missense_Mutation SNP T T G TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 19 9324685 9324685 T G SNP OR7D4 ENST00000308682 human ensembl 74_37 -1 known missense c.829 p.M277L 0.020 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7D4 HGNC ENSG00000174667 tier1 - - 55 0 0.00 32 6 15.79 PALM2-AKAP2 0 genome.wustl.edu 37 9 112642907 112642907 + Missense_Mutation SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 9 112642907 112642907 G A SNP PALM2-AKAP2 ENST00000374530 human ensembl 74_37 +1 known missense c.203 p.R68Q 1.000 pfam_Paralemmin pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 tier1 - - 32 0 0.00 39 4 9.30 PARP10 0 genome.wustl.edu 37 8 145059977 145059977 + Silent SNP C C G TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 8 145059977 145059977 C G SNP PARP10 ENST00000313028 human ensembl 74_37 -1 known silent c.348 p.S116 0.001 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP10 HGNC ENSG00000178685 tier1 - - 28 0 0.00 29 6 17.14 PCDH19 0 genome.wustl.edu 37 X 99661679 99661679 + Missense_Mutation SNP C C A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 X 99661679 99661679 C A SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known missense c.1917 p.E639D 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 tier1 - - 20 0 0.00 9 12 57.14 PKD2 0 genome.wustl.edu 37 4 88929174 88929176 + In_Frame_Del DEL GAG GAG - TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 4 88929174 88929176 GAG - DEL PKD2 ENST00000237596 human ensembl 74_37 +1 known in_frame_del c.289_291 p.E100in_frame_del 1.000:1.000:1.000 NULL pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2 HGNC ENSG00000118762 tier1 30 0 0.00 35 4 10.26 PKDREJ 0 genome.wustl.edu 37 22 46652641 46652641 + Missense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 22 46652641 46652641 C T SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known missense c.6579 p.M2193I 0.000 NULL pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 tier1 - - 28 0 0.00 11 14 56.00 PLCB1 0 genome.wustl.edu 37 20 8741066 8741066 + Missense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 20 8741066 8741066 C T SNP PLCB1 ENST00000338037 human ensembl 74_37 +1 known missense c.2669 p.A890V 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 tier1 - - 67 0 0.00 54 11 16.92 PLCG1 0 genome.wustl.edu 37 20 39800921 39800922 + Frame_Shift_Ins INS - - G TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 20 39800921 39800922 - G INS PLCG1 ENST00000244007 human ensembl 74_37 +1 known frame_shift_ins c.2897_2898 p.D966fs 0.999:0.993 pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pirsf_PLC-gamma,pfscan_PLipase_C_Pinositol-sp_Y pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_dom,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2 - no_errors PLCG1 HGNC ENSG00000124181 tier1 71 0 0.00 54 8 12.90 PLOD1 0 genome.wustl.edu 37 1 12008070 12008070 + Silent SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 12008070 12008070 C T SNP PLOD1 ENST00000376369 human ensembl 74_37 +1 known silent c.255 p.T85 0.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD1 HGNC ENSG00000083444 tier1 - - 106 0 0.00 61 21 25.61 PLXNB2 0 genome.wustl.edu 37 22 50722588 50722588 + Missense_Mutation SNP C C A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 22 50722588 50722588 C A SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known missense c.2236 p.G746C 0.725 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB2 HGNC ENSG00000196576 163 0 0.00 54 3 5.26 PLXNB2 0 genome.wustl.edu 37 22 50722589 50722589 + Nonsense_Mutation SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 22 50722589 50722589 G T SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known nonsense c.2235 p.Y745* 0.034 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB2 HGNC ENSG00000196576 165 0 0.00 55 4 6.78 PMS1 0 genome.wustl.edu 37 2 190732645 190732645 + Silent SNP A A G TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 2 190732645 190732645 A G SNP PMS1 ENST00000441310 human ensembl 74_37 +1 known silent c.2463 p.K821 0.909 NULL pfam_DNA_mismatch_repair_C,pfam_HMG_box_dom,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom,tigrfam_DNA_mismatch_repair_N - no_errors PMS1 HGNC ENSG00000064933 tier1 - - 43 0 0.00 45 12 21.05 PNISR 0 genome.wustl.edu 37 6 99848035 99848036 + RNA INS - - AA TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 6 99848035 99848036 - AA INS PNISR ENST00000481229 human ensembl 74_37 -1 known rna NULL NULL 0.988:0.986 - - - no_errors PNISR HGNC ENSG00000132424 tier1 28 0 0.00 30 5 14.29 POLDIP2 0 genome.wustl.edu 37 17 26684529 26684529 + RNA DEL G G - TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 17 26684529 26684529 G - DEL POLDIP2 ENST00000003607 human ensembl 74_37 -1 known rna NULL NULL 0.993 - - - no_errors POLDIP2 HGNC ENSG00000004142 tier1 8 0 0.00 5 6 54.55 POLR3K 0 genome.wustl.edu 37 16 97516 97516 + Nonsense_Mutation SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 16 97516 97516 G A SNP POLR3K ENST00000293860 human ensembl 74_37 -1 known nonsense c.241 p.Q81* 1.000 pfam_Znf_TFIIS,smart_Znf_TFIIS,pfscan_Znf_TFIIS pfam_Znf_TFIIS,pfam_DNA-dir_RNA_pol_M/15kDasu,smart_DNA-dir_RNA_pol_M/15kDasu,smart_Znf_TFIIS,pfscan_Znf_TFIIS - no_errors POLR3K HGNC ENSG00000161980 tier1 - - 35 0 0.00 52 4 7.14 PRDM9 0 genome.wustl.edu 37 5 23527403 23527403 + Missense_Mutation SNP C C A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 5 23527403 23527403 C A SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known missense c.2206 p.L736I 0.002 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 tier1 - - 78 0 0.00 63 14 18.18 PRG3 0 genome.wustl.edu 37 11 57147010 57147010 + Missense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 11 57147010 57147010 C T SNP PRG3 ENST00000287143 human ensembl 74_37 -1 known missense c.332 p.R111H 0.000 superfamily_C-type_lectin_fold,smart_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_Eosinophil_major_basic - no_errors PRG3 HGNC ENSG00000156575 tier1 - - 63 0 0.00 36 12 25.00 PSD4 0 genome.wustl.edu 37 2 113942993 113942993 + Missense_Mutation SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 2 113942993 113942993 G T SNP PSD4 ENST00000245796 human ensembl 74_37 +1 known missense c.1225 p.V409L 0.004 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD4 HGNC ENSG00000125637 tier1 - - 34 0 0.00 61 4 6.15 RAB10 0 genome.wustl.edu 37 2 26350815 26350815 + Nonsense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 2 26350815 26350815 C T SNP RAB10 ENST00000264710 human ensembl 74_37 +1 known nonsense c.514 p.R172* 1.000 superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB10 HGNC ENSG00000084733 tier1 - - 46 0 0.00 72 22 23.40 RAP1GAP 0 genome.wustl.edu 37 1 21929326 21929326 + Missense_Mutation SNP G G C TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 21929326 21929326 G C SNP RAP1GAP ENST00000290101 human ensembl 74_37 -1 known missense c.1701 p.I567M 0.763 NULL pfam_Rap_GAP_dom,pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Rap_GAP_dom - no_errors RAP1GAP HGNC ENSG00000076864 46 0 0.00 37 3 7.50 RAPGEF1 0 genome.wustl.edu 37 9 134501526 134501526 + Silent SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 9 134501526 134501526 G A SNP RAPGEF1 ENST00000372190 human ensembl 74_37 -1 known silent c.1488 p.Y496 0.864 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF1 HGNC ENSG00000107263 tier1 - - 60 0 0.00 40 18 31.03 RBMS1 0 genome.wustl.edu 37 2 161130979 161130982 + RNA DEL TTTC TTTC - TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 TTTC TTTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 2 161130979 161130982 TTTC - DEL RBMS1 ENST00000474820 human ensembl 74_37 -1 known rna NULL NULL 0.121:0.138:0.129:0.057 - - - no_errors RBMS1 HGNC ENSG00000153250 tier1 22 0 0.00 24 8 25.00 RECQL 0 genome.wustl.edu 37 12 21628683 21628683 + Missense_Mutation SNP C C A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 12 21628683 21628683 C A SNP RECQL ENST00000421138 human ensembl 74_37 -1 known missense c.1025 p.G342V 0.832 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC ENSG00000004700 tier1 - - 14 0 0.00 6 8 57.14 REG3A 0 genome.wustl.edu 37 2 79384410 79384410 + Missense_Mutation SNP C C A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 2 79384410 79384410 C A SNP REG3A ENST00000305165 human ensembl 74_37 -1 known missense c.470 p.R157M 0.001 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors REG3A HGNC ENSG00000172016 tier1 - - 66 0 0.00 58 16 21.62 RELN 0 genome.wustl.edu 37 7 103143467 103143467 + Nonsense_Mutation SNP C C A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 7 103143467 103143467 C A SNP RELN ENST00000424685 human ensembl 74_37 -1 known nonsense c.8485 p.G2829* 1.000 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 tier1 - - 135 0 0.00 97 29 23.02 RINT1 0 genome.wustl.edu 37 7 105206037 105206037 + Missense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 7 105206037 105206037 C T SNP RINT1 ENST00000257700 human ensembl 74_37 +1 known missense c.2128 p.R710W 0.986 pfam_RINT1_TIP1 pfam_RINT1_TIP1 - no_errors RINT1 HGNC ENSG00000135249 tier1 - - 26 0 0.00 27 6 18.18 RNF126P1 0 genome.wustl.edu 37 17 55123062 55123062 + RNA SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 17 55123062 55123062 G A SNP RNF126P1 ENST00000567452 human ensembl 74_37 +1 known rna NULL NULL 0.015 - - - no_errors RNF126P1 HGNC ENSG00000261192 tier1 - - 81 0 0.00 62 9 12.68 RNF145 0 genome.wustl.edu 37 5 158630641 158630642 + Frame_Shift_Ins INS - - T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 5 158630641 158630642 - T INS RNF145 ENST00000518802 human ensembl 74_37 -1 known frame_shift_ins c.75_74 p.K26fs 0.000:0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF145 HGNC ENSG00000145860 tier1 43 0 0.00 27 4 12.90 RP1 0 genome.wustl.edu 37 8 55540391 55540391 + Missense_Mutation SNP C C G TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 8 55540391 55540391 C G SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.3949 p.Q1317E 0.218 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 tier1 - - 135 0 0.00 97 28 22.40 RRBP1 0 genome.wustl.edu 37 20 17614113 17614113 + Nonsense_Mutation SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 20 17614113 17614113 G A SNP RRBP1 ENST00000246043 human ensembl 74_37 -1 known nonsense c.2602 p.Q868* 1.000 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 tier1 - - 58 0 0.00 56 4 6.67 SELRC1 0 genome.wustl.edu 37 1 53163915 53163915 + Nonsense_Mutation SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 53163915 53163915 G T SNP SELRC1 ENST00000371538 human ensembl 74_37 -1 known nonsense c.84 p.C28* 1.000 NULL pfam_Sel1-like,smart_Sel1-like - no_errors SELRC1 HGNC ENSG00000162377 65 0 0.00 74 4 5.13 SENP3 0 genome.wustl.edu 37 17 7475156 7475156 + RNA SNP T T A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 17 7475156 7475156 T A SNP SENP3 ENST00000578813 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors SENP3 HGNC ENSG00000161956 12 0 0.00 14 3 17.65 SERPINH1 0 genome.wustl.edu 37 11 75277524 75277524 + Missense_Mutation SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 11 75277524 75277524 G A SNP SERPINH1 ENST00000358171 human ensembl 74_37 +1 known missense c.130 p.A44T 1.000 superfamily_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINH1 HGNC ENSG00000149257 tier1 - - 51 0 0.00 25 14 35.90 SIN3A 0 genome.wustl.edu 37 15 75692462 75692462 + Missense_Mutation SNP C C A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 15 75692462 75692462 C A SNP SIN3A ENST00000360439 human ensembl 74_37 -1 known missense c.1773 p.W591C 1.000 pfam_HDAC_interact,smart_HDAC_interact pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3A HGNC ENSG00000169375 tier1 - - 20 0 0.00 26 7 21.21 SIPA1L2 0 genome.wustl.edu 37 1 232575095 232575095 + Missense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 232575095 232575095 C T SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.3790 p.D1264N 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 tier1 - - 79 0 0.00 93 15 13.89 SKIDA1 0 genome.wustl.edu 37 10 21805720 21805720 + Silent SNP A A G TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 10 21805720 21805720 A G SNP SKIDA1 ENST00000449193 human ensembl 74_37 -1 known silent c.1032 p.H344 0.972 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors SKIDA1 HGNC ENSG00000180592 74 0 0.00 63 4 5.97 SLC11A1 0 genome.wustl.edu 37 2 219259680 219259680 + Silent SNP C C A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 2 219259680 219259680 C A SNP SLC11A1 ENST00000233202 human ensembl 74_37 +1 known silent c.1575 p.T525 0.000 NULL pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like - no_errors SLC11A1 HGNC ENSG00000018280 tier1 - - 63 0 0.00 56 7 11.11 SLC23A2 0 genome.wustl.edu 37 20 4893541 4893541 + Silent SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 20 4893541 4893541 G A SNP SLC23A2 ENST00000338244 human ensembl 74_37 -1 known silent c.192 p.N64 0.610 NULL pfam_Xant/urac/vitC - no_errors SLC23A2 HGNC ENSG00000089057 25 0 0.00 28 3 9.68 SLC30A4 0 genome.wustl.edu 37 15 45814394 45814394 + Silent SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 15 45814394 45814394 G A SNP SLC30A4 ENST00000261867 human ensembl 74_37 -1 known silent c.159 p.D53 0.299 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A4 HGNC ENSG00000104154 tier1 - - 52 0 0.00 51 4 7.27 SLC44A1 0 genome.wustl.edu 37 9 108127763 108127763 + Splice_Site SNP G G C TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 9 108127763 108127763 G C SNP SLC44A1 ENST00000374720 human ensembl 74_37 +1 known splice_site c.1254-1 e11-1 1.000 - - - no_errors SLC44A1 HGNC ENSG00000070214 tier1 - - 98 0 0.00 59 33 34.74 SLCO4C1 0 genome.wustl.edu 37 5 101583042 101583042 + Silent SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 5 101583042 101583042 C T SNP SLCO4C1 ENST00000310954 human ensembl 74_37 -1 known silent c.1725 p.A575 0.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4C1 HGNC ENSG00000173930 tier1 - - 76 0 0.00 36 10 21.74 SMIM11 0 genome.wustl.edu 37 21 35774491 35774492 + RNA INS - - T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 21 35774491 35774492 - T INS SMIM11 ENST00000481710 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.002 - - - no_errors SMIM11 HGNC ENSG00000205670 tier1 33 0 0.00 26 2 7.14 SNHG11 0 genome.wustl.edu 37 20 37076786 37076786 + RNA SNP A A T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 20 37076786 37076786 A T SNP SNHG11 ENST00000365032 human ensembl 74_37 +1 known rna NULL NULL 0.950 - - - no_errors SNHG11 HGNC ENSG00000174365 tier1 - - 127 0 0.00 109 18 14.17 SNHG7 0 genome.wustl.edu 37 9 139621262 139621262 + RNA SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 9 139621262 139621262 C T SNP SNHG7 ENST00000391185 human ensembl 74_37 -1 known rna NULL NULL 0.154 - - - no_errors SNHG7 HGNC ENSG00000233016 tier1 - - 50 0 0.00 31 7 18.42 SNORA30 0 genome.wustl.edu 37 16 30721919 30721919 + RNA SNP A A T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 16 30721919 30721919 A T SNP SNORA30 ENST00000384028 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORA30 HGNC ENSG00000206755 tier1 - - 43 0 0.00 45 12 21.05 SNX29 0 genome.wustl.edu 37 16 12162928 12162928 + Missense_Mutation SNP A A G TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 16 12162928 12162928 A G SNP SNX29 ENST00000306030 human ensembl 74_37 +1 known missense c.103 p.S35G 0.962 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX29 HGNC ENSG00000048471 tier1 - - 57 0 0.00 39 15 27.78 SPATA31A3 0 genome.wustl.edu 37 9 40705844 40705844 + Missense_Mutation SNP C C G TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 9 40705844 40705844 C G SNP SPATA31A3 ENST00000356699 human ensembl 74_37 +1 known missense c.3501 p.I1167M 0.000 NULL NULL - no_errors SPATA31A3 HGNC ENSG00000147926 tier1 - - 85 0 0.00 55 19 25.68 SPG11 0 genome.wustl.edu 37 15 44905697 44905698 + Frame_Shift_Ins INS - - T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 15 44905697 44905698 - T INS SPG11 ENST00000261866 human ensembl 74_37 -1 known frame_shift_ins c.3076_3075 p.E1025fs 1.000:1.000 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 tier1 29 0 0.00 32 2 5.88 SPOCK3 0 genome.wustl.edu 37 4 167656208 167656208 + Missense_Mutation SNP C C G TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 4 167656208 167656208 C G SNP SPOCK3 ENST00000357154 human ensembl 74_37 -1 known missense c.1175 p.S392T 1.000 NULL pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK3 HGNC ENSG00000196104 tier1 - - 62 0 0.00 40 12 23.08 ST6GALNAC5 0 genome.wustl.edu 37 1 77510243 77510243 + Missense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 77510243 77510243 C T SNP ST6GALNAC5 ENST00000477717 human ensembl 74_37 +1 known missense c.616 p.R206C 0.988 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GALNAC5 HGNC ENSG00000117069 22 0 0.00 23 3 11.54 STARD7 0 genome.wustl.edu 37 2 96858916 96858916 + RNA SNP C C A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 2 96858916 96858916 C A SNP STARD7 ENST00000462501 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors STARD7 HGNC ENSG00000084090 tier1 - - 63 0 0.00 41 9 18.00 STK10 0 genome.wustl.edu 37 5 171614953 171614953 + Missense_Mutation SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 5 171614953 171614953 G T SNP STK10 ENST00000176763 human ensembl 74_37 -1 known missense c.94 p.P32T 1.000 superfamily_Kinase-like_dom pfam_PKK,pfam_Prot_kinase_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_dom - no_errors STK10 HGNC ENSG00000072786 tier1 - - 88 0 0.00 35 15 30.00 STRA13 0 genome.wustl.edu 37 17 79977072 79977072 + Missense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 17 79977072 79977072 C T SNP STRA13 ENST00000584347 human ensembl 74_37 -1 putative missense c.386 p.S129N 0.001 NULL pfam_CENP-X - no_errors STRA13 HGNC ENSG00000169689 tier1 - - 99 0 0.00 92 18 16.36 SYT14 0 genome.wustl.edu 37 1 210334142 210334142 + Missense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 210334142 210334142 C T SNP SYT14 ENST00000422431 human ensembl 74_37 +1 known missense c.1615 p.R539C 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT14 HGNC ENSG00000143469 tier1 - - 44 0 0.00 36 8 18.18 TADA1 0 genome.wustl.edu 37 1 166829469 166829469 + Missense_Mutation SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 166829469 166829469 G A SNP TADA1 ENST00000367874 human ensembl 74_37 -1 known missense c.646 p.P216S 1.000 NULL superfamily_Histone-fold - no_errors TADA1 HGNC ENSG00000152382 40 0 0.00 69 4 5.48 TAL1 0 genome.wustl.edu 37 1 47684909 47684909 + RNA SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 47684909 47684909 G A SNP TAL1 ENST00000459729 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TAL1 HGNC ENSG00000162367 tier1 - - 52 0 0.00 29 14 32.56 TAS2R16 0 genome.wustl.edu 37 7 122635287 122635287 + Silent SNP C C G TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 7 122635287 122635287 C G SNP TAS2R16 ENST00000249284 human ensembl 74_37 -1 known silent c.402 p.L134 0.001 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R16 HGNC ENSG00000128519 tier1 - - 23 0 0.00 21 4 16.00 TAS2R31 0 genome.wustl.edu 37 12 11183889 11183889 + Missense_Mutation SNP G G C TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 12 11183889 11183889 G C SNP TAS2R31 ENST00000390675 human ensembl 74_37 -1 known missense c.46 p.L16V 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R31 HGNC ENSG00000256436 tier1 - - 41 0 0.00 60 29 32.22 TLE2 0 genome.wustl.edu 37 19 3005571 3005571 + Missense_Mutation SNP C C A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 19 3005571 3005571 C A SNP TLE2 ENST00000262953 human ensembl 74_37 -1 known missense c.1760 p.G587V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Groucho_enhance,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TLE2 HGNC ENSG00000065717 tier1 - - 35 0 0.00 18 4 18.18 TMC1 0 genome.wustl.edu 37 9 75404064 75404064 + Missense_Mutation SNP C C A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 9 75404064 75404064 C A SNP TMC1 ENST00000297784 human ensembl 74_37 +1 known missense c.1055 p.A352D 1.000 NULL pfam_TMC - no_errors TMC1 HGNC ENSG00000165091 tier1 - - 9 0 0.00 5 9 64.29 TMEFF2 0 genome.wustl.edu 37 2 192863843 192863843 + Nonsense_Mutation SNP C C A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 2 192863843 192863843 C A SNP TMEFF2 ENST00000272771 human ensembl 74_37 -1 known nonsense c.628 p.E210* 1.000 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,smart_Kazal_dom,pfscan_EG-like_dom - no_errors TMEFF2 HGNC ENSG00000144339 tier1 - - 100 0 0.00 117 26 18.18 TNN 0 genome.wustl.edu 37 1 175066783 175066783 + Nonsense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 175066783 175066783 C T SNP TNN ENST00000239462 human ensembl 74_37 +1 known nonsense c.1819 p.R607* 0.139 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 tier1 - - 39 0 0.00 45 6 11.76 TP53 0 genome.wustl.edu 37 17 7578457 7578457 + Missense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 17 7578457 7578457 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.473 p.R158H 0.989 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 483 0 0.00 299 81 21.26 TP53 0 genome.wustl.edu 37 17 7578556 7578556 + Splice_Site SNP T T A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 17 7578556 7578556 T A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site c.376-2 e4-2 1.000 - - - no_errors TP53 HGNC ENSG00000141510 tier1 - - 309 0 0.00 130 98 42.79 TRAIP 0 genome.wustl.edu 37 3 49867177 49867177 + Missense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 3 49867177 49867177 C T SNP TRAIP ENST00000331456 human ensembl 74_37 -1 known missense c.1109 p.G370D 0.972 NULL pfam_Znf_C3HC4_RING-type,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors TRAIP HGNC ENSG00000183763 32 0 0.00 13 3 18.75 TRIP10 0 genome.wustl.edu 37 19 6751205 6751205 + Nonsense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 19 6751205 6751205 C T SNP TRIP10 ENST00000313244 human ensembl 74_37 +1 known nonsense c.1789 p.R597* 0.991 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_FCH_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors TRIP10 HGNC ENSG00000125733 tier1 - - 35 0 0.00 23 7 23.33 TSPAN33 0 genome.wustl.edu 37 7 128802357 128802357 + Missense_Mutation SNP C C A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 7 128802357 128802357 C A SNP TSPAN33 ENST00000289407 human ensembl 74_37 +1 known missense c.283 p.Q95K 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN33 HGNC ENSG00000158457 tier1 - - 64 0 0.00 39 13 25.00 TSPEAR 0 genome.wustl.edu 37 21 45949798 45949798 + Missense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 21 45949798 45949798 C T SNP TSPEAR ENST00000323084 human ensembl 74_37 -1 known missense c.673 p.A225T 1.000 superfamily_ConA-like_lec_gl_sf pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 tier1 rs146216896 - 42 0 0.00 49 8 14.04 TSPYL1 0 genome.wustl.edu 37 6 116600515 116600515 + Missense_Mutation SNP C C A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 6 116600515 116600515 C A SNP TSPYL1 ENST00000368608 human ensembl 74_37 -1 known missense c.479 p.C160F 0.007 NULL pfam_NAP_family - no_errors TSPYL1 HGNC ENSG00000189241 tier1 - - 156 0 0.00 67 25 27.17 TTC9C 0 genome.wustl.edu 37 11 62496120 62496120 + Missense_Mutation SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 11 62496120 62496120 G T SNP TTC9C ENST00000513247 human ensembl 74_37 +1 known missense c.285 p.L95F 0.000 NULL NULL - no_errors TTC9C HGNC ENSG00000162222 tier1 - - 68 0 0.00 73 4 5.19 TTN 0 genome.wustl.edu 37 2 179549092 179549092 + Missense_Mutation SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 2 179549092 179549092 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.28955 p.A9652V 1.000 pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 49 0 0.00 50 4 7.27 TTN 0 genome.wustl.edu 37 2 179575994 179575994 + Silent SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 2 179575994 179575994 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.24237 p.A8079 0.008 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 72 0 0.00 65 11 14.47 UACA 0 genome.wustl.edu 37 15 70964305 70964305 + Missense_Mutation SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 15 70964305 70964305 G T SNP UACA ENST00000322954 human ensembl 74_37 -1 known missense c.1167 p.N389K 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 tier1 - - 27 0 0.00 32 4 11.11 UBAP2 0 genome.wustl.edu 37 9 33956094 33956094 + Missense_Mutation SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 9 33956094 33956094 G T SNP UBAP2 ENST00000360802 human ensembl 74_37 -1 known missense c.849 p.H283Q 0.013 NULL pfam_DUF3697_Uba2,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2 HGNC ENSG00000137073 76 0 0.00 55 4 6.78 UGDH 0 genome.wustl.edu 37 4 39501789 39501789 + Missense_Mutation SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 4 39501789 39501789 G T SNP UGDH ENST00000316423 human ensembl 74_37 -1 known missense c.1459 p.P487T 1.000 NULL pfam_UDP-Glc/GDP-Man_DH_N,pfam_UDP-Glc/GDP-Man_DH_C,pfam_UDP-Glc/GDP-Man_DH_dimer,superfamily_UDP-Glc/GDP-Man_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_UDP-Glc/GDP-Man - no_errors UGDH HGNC ENSG00000109814 tier1 - - 95 0 0.00 72 4 5.26 USH2A 0 genome.wustl.edu 37 1 216052380 216052380 + Missense_Mutation SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 216052380 216052380 G T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.8284 p.P2762T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 14 0 0.00 24 2 7.69 USP14 0 genome.wustl.edu 37 18 211238 211238 + Missense_Mutation SNP A A G TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 18 211238 211238 A G SNP USP14 ENST00000261601 human ensembl 74_37 +1 known missense c.1439 p.Y480C 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,smart_Ubiquitin_dom,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP14 HGNC ENSG00000101557 tier1 - - 38 0 0.00 41 8 16.33 USP33 0 genome.wustl.edu 37 1 78191334 78191334 + Missense_Mutation SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 78191334 78191334 G A SNP USP33 ENST00000357428 human ensembl 74_37 -1 known missense c.1342 p.P448S 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP33 HGNC ENSG00000077254 tier1 - - 59 0 0.00 73 5 6.41 USP8 0 genome.wustl.edu 37 15 50785054 50785054 + Silent SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 15 50785054 50785054 C T SNP USP8 ENST00000307179 human ensembl 74_37 +1 known silent c.2391 p.N797 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_USP8_dimer,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_dom,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19/C67 - no_errors USP8 HGNC ENSG00000138592 tier1 rs199814360 - 38 0 0.00 35 4 10.26 VCL 0 genome.wustl.edu 37 10 75758009 75758009 + Missense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 10 75758009 75758009 C T SNP VCL ENST00000211998 human ensembl 74_37 +1 known missense c.44 p.P15L 1.000 pfam_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin - no_errors VCL HGNC ENSG00000035403 tier1 - - 83 0 0.00 37 14 27.45 VNN1 0 genome.wustl.edu 37 6 133015315 133015315 + Silent SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 6 133015315 133015315 G A SNP VNN1 ENST00000367928 human ensembl 74_37 -1 known silent c.348 p.G116 0.002 pfam_C-N_Hydrolase,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 VNN1 HGNC ENSG00000112299 67 0 0.00 31 3 8.82 VNN2 0 genome.wustl.edu 37 6 133072386 133072386 + Missense_Mutation SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 6 133072386 133072386 G A SNP VNN2 ENST00000532053 human ensembl 74_37 -1 known missense c.569 p.A190V 0.999 pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors VNN2 HGNC ENSG00000112303 tier1 - - 39 0 0.00 19 10 34.48 WDR43 0 genome.wustl.edu 37 2 29150504 29150504 + Missense_Mutation SNP A A G TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 2 29150504 29150504 A G SNP WDR43 ENST00000407426 human ensembl 74_37 +1 known missense c.1243 p.I415V 0.014 NULL 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 tier1 - - 60 0 0.00 58 21 26.58 WDR52 0 genome.wustl.edu 37 3 113025140 113025140 + Nonsense_Mutation SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 3 113025140 113025140 G A SNP WDR52 ENST00000393845 human ensembl 74_37 -1 known nonsense c.4666 p.R1556* 1.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC ENSG00000206530 tier1 - - 94 0 0.00 97 16 14.16 WDR76 0 genome.wustl.edu 37 15 44158510 44158510 + Missense_Mutation SNP A A C TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 15 44158510 44158510 A C SNP WDR76 ENST00000263795 human ensembl 74_37 +1 known missense c.1801 p.M601L 0.522 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR76 HGNC ENSG00000092470 tier1 - - 167 0 0.00 126 29 18.71 WRN 0 genome.wustl.edu 37 8 30982124 30982124 + Missense_Mutation SNP G G C TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 8 30982124 30982124 G C SNP WRN ENST00000298139 human ensembl 74_37 +1 known missense c.2717 p.S906T 0.472 tigrfam_DNA_helicase_ATP-dep_RecQ pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 tier1 - - 55 0 0.00 34 8 19.05 XIRP2 0 genome.wustl.edu 37 2 168101152 168101152 + Missense_Mutation SNP A A G TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 2 168101152 168101152 A G SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.3250 p.R1084G 0.507 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 40 0 0.00 37 10 21.28 XIST 0 genome.wustl.edu 37 X 73065303 73065304 + RNA INS - - C TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 X 73065303 73065304 - C INS XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors XIST HGNC ENSG00000229807 tier1 55 0 0.00 16 2 11.11 XKR5 0 genome.wustl.edu 37 8 6669476 6669476 + RNA SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 8 6669476 6669476 G A SNP XKR5 ENST00000405979 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XKR5 HGNC ENSG00000186530 tier1 - - 51 0 0.00 34 4 10.53 ZCCHC8 0 genome.wustl.edu 37 12 122958783 122958783 + Missense_Mutation SNP A A C TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 12 122958783 122958783 A C SNP ZCCHC8 ENST00000336229 human ensembl 74_37 -1 known missense c.1385 p.F462C 0.990 NULL pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC - no_errors ZCCHC8 HGNC ENSG00000033030 15 0 0.00 15 3 16.67 ZFHX3 0 genome.wustl.edu 37 16 72828727 72828727 + Silent SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 16 72828727 72828727 C T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known silent c.7854 p.L2618 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 tier1 rs139779175 - 80 0 0.00 60 4 6.25 ZFYVE9 0 genome.wustl.edu 37 1 52810443 52810443 + Frame_Shift_Del DEL T T - TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 1 52810443 52810443 T - DEL ZFYVE9 ENST00000287727 human ensembl 74_37 +1 known frame_shift_del c.3943 p.F1316fs 1.000 pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE9 HGNC ENSG00000157077 tier1 44 0 0.00 26 4 13.33 ZNF214 0 genome.wustl.edu 37 11 7021545 7021545 + Missense_Mutation SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 11 7021545 7021545 G T SNP ZNF214 ENST00000278314 human ensembl 74_37 -1 known missense c.1369 p.L457I 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF214 HGNC ENSG00000149050 52 0 0.00 38 2 5.00 ZNF578 0 genome.wustl.edu 37 19 53014266 53014266 + Missense_Mutation SNP A A T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 19 53014266 53014266 A T SNP ZNF578 ENST00000421239 human ensembl 74_37 +1 known missense c.632 p.N211I 0.001 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 ZNF578 HGNC ENSG00000258405 tier1 - - 74 0 0.00 45 10 18.18 ZNF582 0 genome.wustl.edu 37 19 56896193 56896193 + Missense_Mutation SNP G G T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 19 56896193 56896193 G T SNP ZNF582 ENST00000301310 human ensembl 74_37 -1 known missense c.593 p.P198H 0.783 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 ZNF582 HGNC ENSG00000018869 59 0 0.00 47 3 6.00 ZNF646 0 genome.wustl.edu 37 16 31091869 31091869 + Silent SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 16 31091869 31091869 G A SNP ZNF646 ENST00000300850 human ensembl 74_37 +1 known silent c.4224 p.A1408 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 tier1 - - 102 0 0.00 61 29 32.22 ZNF655 0 genome.wustl.edu 37 7 99170870 99170870 + Missense_Mutation SNP A A G TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 7 99170870 99170870 A G SNP ZNF655 ENST00000424881 human ensembl 74_37 +1 known missense c.1244 p.Y415C 0.008 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF655 HGNC ENSG00000197343 tier1 - - 32 0 0.00 19 9 32.14 ZNF679 0 genome.wustl.edu 37 7 63726929 63726929 + Silent SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 7 63726929 63726929 C T SNP ZNF679 ENST00000255746 human ensembl 74_37 +1 known silent c.918 p.S306 0.018 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 ZNF679 HGNC ENSG00000197123 tier1 - - 77 0 0.00 68 4 5.56 ZNF749 0 genome.wustl.edu 37 19 57955022 57955022 + Missense_Mutation SNP A A G TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0428f112-5bb2-4587-b9e5-99c74ca18527 adec6642-1095-4cd8-9077-dd8f22d1cf14 19 57955022 57955022 A G SNP ZNF749 ENST00000334181 human ensembl 74_37 +1 known missense c.506 p.Q169R 0.005 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 ZNF749 HGNC ENSG00000186230 tier1 - - 44 0 0.00 26 9 25.00