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 GSTM2 0 genome.wustl.edu 37 1 110211979 110211979 + Missense_Mutation SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 1 110211979 110211979 G A SNP GSTM2 ENST00000241337 human ensembl 74_37 +1 known missense c.245 p.R82H 1.000 pfam_Glutathione_S-Trfase_N pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_mu - no_errors GSTM2 HGNC ENSG00000213366 329 1 0.30303 114 64 35.9551 IL6R 0 genome.wustl.edu 37 1 154407589 154407589 + Missense_Mutation SNP T T G TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 1 154407589 154407589 T G SNP IL6R ENST00000368485 human ensembl 74_37 +1 known missense c.764 p.L255R 0.984 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IL6R HGNC ENSG00000160712 129 0 0 50 7 12.2807 KIRREL 0 genome.wustl.edu 37 1 158064879 158064879 + Missense_Mutation SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 1 158064879 158064879 G A SNP KIRREL ENST00000368173 human ensembl 74_37 +1 known missense c.2291 p.R764Q 0.998 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL HGNC ENSG00000183853 37 0 0 13 8 38.0952 OR6K6 0 genome.wustl.edu 37 1 158724691 158724691 + Missense_Mutation SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 1 158724691 158724691 C T SNP OR6K6 ENST00000368144 human ensembl 74_37 +1 known missense c.86 p.T29M 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K6 HGNC ENSG00000180433 196 0 0 71 47 39.8305 ATP1A4 0 genome.wustl.edu 37 1 160146308 160146308 + Missense_Mutation SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 1 160146308 160146308 G A SNP ATP1A4 ENST00000368081 human ensembl 74_37 +1 known missense c.2506 p.D836N 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A4 HGNC ENSG00000132681 84 0 0 27 34 55.7377 GPR161 0 genome.wustl.edu 37 1 168074014 168074014 + Silent SNP G G T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 1 168074014 168074014 G T SNP GPR161 ENST00000537209 human ensembl 74_37 -1 known silent c.135 p.G45 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR161 HGNC ENSG00000143147 146 0 0 46 41 47.1264 GLUL 0 genome.wustl.edu 37 1 182357908 182357908 + RNA SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 1 182357908 182357908 C T SNP GLUL ENST00000475808 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GLUL HGNC ENSG00000135821 92 0 0 43 26 37.6812 CFH 0 genome.wustl.edu 37 1 196659357 196659357 + Missense_Mutation SNP T T C TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 1 196659357 196659357 T C SNP CFH ENST00000367429 human ensembl 74_37 +1 known missense c.1324 p.C442R 0.771 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 121 0 0 51 5 8.92857 CFHR2 0 genome.wustl.edu 37 1 196920153 196920153 + Missense_Mutation SNP C C G TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 1 196920153 196920153 C G SNP CFHR2 ENST00000367415 human ensembl 74_37 +1 known missense c.425 p.S142C 0.000 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR2 HGNC ENSG00000080910 140 0 0 64 11 14.6667 C1orf106 0 genome.wustl.edu 37 1 200867552 200867552 + Silent SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 1 200867552 200867552 C T SNP C1orf106 ENST00000367342 human ensembl 74_37 +1 known silent c.279 p.S93 1.000 pfam_DUF3338 pfam_DUF3338 - no_errors C1orf106 HGNC ENSG00000163362 175 0 0 63 22 25.8824 LRRN2 0 genome.wustl.edu 37 1 204588700 204588700 + Missense_Mutation SNP C C G TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 1 204588700 204588700 C G SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known missense c.421 p.A141P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 291 0 0 114 37 24.5033 HSPG2 0 genome.wustl.edu 37 1 22199882 22199882 + Missense_Mutation SNP C C G TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 1 22199882 22199882 C G SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.3779 p.G1260A 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 329 1 0.30303 96 49 33.7931 OBSCN 0 genome.wustl.edu 37 1 228430947 228430947 + Missense_Mutation SNP C C G TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 1 228430947 228430947 C G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.2993 p.A998G 0.015 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,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 77 0 0 20 14 41.1765 OBSCN 0 genome.wustl.edu 37 1 228434292 228434292 + Missense_Mutation SNP C C G TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 1 228434292 228434292 C G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.3821 p.A1274G 0.014 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,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 195 1 0.510204 62 38 38 SRRM1 0 genome.wustl.edu 37 1 24996743 24996743 + Missense_Mutation SNP C C A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 1 24996743 24996743 C A SNP SRRM1 ENST00000447431 human ensembl 74_37 +1 known missense c.2373 p.N791K 1.000 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom - no_errors SRRM1 HGNC ENSG00000133226 238 0 0 47 43 47.7778 HMGN2 0 genome.wustl.edu 37 1 26801762 26801762 + RNA SNP G G T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 1 26801762 26801762 G T SNP HMGN2 ENST00000460563 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGN2 HGNC ENSG00000198830 8 0 0 7 7 50 SH3D21 0 genome.wustl.edu 37 1 36785295 36785295 + Missense_Mutation SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 1 36785295 36785295 C T SNP SH3D21 ENST00000453908 human ensembl 74_37 +1 known missense c.1031 p.P344L 0.001 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors SH3D21 HGNC ENSG00000214193 30 0 0 16 6 27.2727 GRIK3 0 genome.wustl.edu 37 1 37346293 37346293 + Silent SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 1 37346293 37346293 G A SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known silent c.492 p.L164 0.999 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 412 0 0 140 91 39.3939 MFSD2A 0 genome.wustl.edu 37 1 40433537 40433537 + Missense_Mutation SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 1 40433537 40433537 C T SNP MFSD2A ENST00000372809 human ensembl 74_37 +1 known missense c.1196 p.A399V 0.988 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD2A HGNC ENSG00000168389 114 0 0 46 15 24.5902 TMEM61 0 genome.wustl.edu 37 1 55457702 55457702 + Missense_Mutation SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 1 55457702 55457702 G A SNP TMEM61 ENST00000371268 human ensembl 74_37 +1 known missense c.559 p.V187I 0.000 NULL NULL - no_errors TMEM61 HGNC ENSG00000143001 272 0 0 65 57 46.7213 TACSTD2 0 genome.wustl.edu 37 1 59042367 59042367 + Silent SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 1 59042367 59042367 G A SNP TACSTD2 ENST00000371225 human ensembl 74_37 -1 known silent c.462 p.I154 1.000 NULL pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors TACSTD2 HGNC ENSG00000184292 31 0 0 12 4 25 GBF1 0 genome.wustl.edu 37 10 104142019 104142019 + Missense_Mutation SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 10 104142019 104142019 G A SNP GBF1 ENST00000369983 human ensembl 74_37 +1 known missense c.5506 p.E1836K 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors GBF1 HGNC ENSG00000107862 278 0 0 80 26 24.5283 WBP1L 0 genome.wustl.edu 37 10 104569654 104569654 + Missense_Mutation SNP C C G TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 10 104569654 104569654 C G SNP WBP1L ENST00000448841 human ensembl 74_37 +1 known missense c.198 p.F66L 1.000 pfam_Uncharacterised_WW-bd pfam_Uncharacterised_WW-bd - no_errors WBP1L HGNC ENSG00000166272 345 0 0 86 41 32.2835 C10orf120 0 genome.wustl.edu 37 10 124457437 124457437 + Missense_Mutation SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 10 124457437 124457437 G A SNP C10orf120 ENST00000329446 human ensembl 74_37 -1 known missense c.820 p.R274W 0.002 NULL NULL - no_errors C10orf120 HGNC ENSG00000183559 179 0 0 99 22 18.1818 UCMA 0 genome.wustl.edu 37 10 13275754 13275754 + Silent SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 10 13275754 13275754 C T SNP UCMA ENST00000378681 human ensembl 74_37 -1 known silent c.105 p.A35 0.000 NULL NULL - no_errors UCMA HGNC ENSG00000165623 210 0 0 103 45 30.4054 KDELC2 0 genome.wustl.edu 37 11 108361830 108361830 + Silent SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 11 108361830 108361830 G A SNP KDELC2 ENST00000323468 human ensembl 74_37 -1 known silent c.267 p.V89 0.991 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like - no_errors KDELC2 HGNC ENSG00000178202 73 0 0 69 19 21.5909 HTR3A 0 genome.wustl.edu 37 11 113857317 113857317 + Missense_Mutation SNP C C A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 11 113857317 113857317 C A SNP HTR3A ENST00000510849 human ensembl 74_37 +1 known missense c.622 p.R208S 0.869 NULL pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,prints_Nicotinic_acetylcholine_rcpt - no_errors HTR3A HGNC ENSG00000166736 190 0 0 73 34 31.7757 ZNF259 0 genome.wustl.edu 37 11 116658317 116658317 + Nonsense_Mutation SNP C C A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 11 116658317 116658317 C A SNP ZNF259 ENST00000227322 human ensembl 74_37 -1 known nonsense c.214 p.E72* 1.000 pfam_Znf_ZPR1,smart_Znf_ZPR1,tigrfam_Znf_ZPR1 pfam_Znf_ZPR1,smart_Znf_ZPR1,tigrfam_Znf_ZPR1 - no_errors ZNF259 HGNC ENSG00000109917 78 0 0 43 15 25.8621 C2CD2L 0 genome.wustl.edu 37 11 118983467 118983467 + Missense_Mutation SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 11 118983467 118983467 C T SNP C2CD2L ENST00000336702 human ensembl 74_37 +1 known missense c.1270 p.R424C 0.790 NULL superfamily_C2_dom - no_errors C2CD2L HGNC ENSG00000172375 76 0 0 49 23 31.9444 CDON 0 genome.wustl.edu 37 11 125875734 125875734 + Missense_Mutation SNP G G T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 11 125875734 125875734 G T SNP CDON ENST00000392693 human ensembl 74_37 -1 known missense c.1771 p.P591T 0.916 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CDON HGNC ENSG00000064309 98 0 0 65 39 37.5 SPTY2D1 0 genome.wustl.edu 37 11 18637552 18637552 + Missense_Mutation SNP T T C TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 11 18637552 18637552 T C SNP SPTY2D1 ENST00000336349 human ensembl 74_37 -1 known missense c.269 p.K90R 1.000 NULL pfam_Chromatin_SPT2,smart_Chromatin_SPT2 - no_errors SPTY2D1 HGNC ENSG00000179119 179 0 0 93 47 33.5714 TSPAN32 0 genome.wustl.edu 37 11 2324041 2324041 + Missense_Mutation SNP A A G TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 11 2324041 2324041 A G SNP TSPAN32 ENST00000339046 human ensembl 74_37 +1 known missense c.1 p.M1V 0.000 NULL pfam_Tetraspanin/Peripherin - no_errors TSPAN32 HGNC ENSG00000064201 31 0 0 12 3 20 DCDC1 0 genome.wustl.edu 37 11 31327862 31327862 + Missense_Mutation SNP G G T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 11 31327862 31327862 G T SNP DCDC1 ENST00000452803 human ensembl 74_37 -1 known missense c.508 p.Q170K 0.053 NULL pfscan_Doublecortin_dom - no_errors DCDC1 HGNC ENSG00000170959 111 0 0 61 18 22.7848 WT1-AS 0 genome.wustl.edu 37 11 32460400 32460400 + RNA SNP A A G TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 11 32460400 32460400 A G SNP WT1-AS ENST00000395900 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors WT1-AS HGNC ENSG00000183242 44 0 0 18 7 28 OR9G1 0 genome.wustl.edu 37 11 56468225 56468225 + Missense_Mutation SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 11 56468225 56468225 G A SNP OR9G1 ENST00000312153 human ensembl 74_37 +1 known missense c.362 p.R121H 0.998 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 OR9G1 HGNC ENSG00000174914 261 0 0 133 21 13.6364 OR9G4 0 genome.wustl.edu 37 11 56510534 56510534 + Missense_Mutation SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 11 56510534 56510534 C T SNP OR9G4 ENST00000302957 human ensembl 74_37 -1 known missense c.754 p.A252T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9G4 HGNC ENSG00000172457 171 0 0 75 24 24.2424 TRIM6-TRIM34 0 genome.wustl.edu 37 11 5653909 5653909 + Nonsense_Mutation SNP C C A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 11 5653909 5653909 C A SNP TRIM6-TRIM34 ENST00000354852 human ensembl 74_37 +1 known nonsense c.1410 p.C470* 0.980 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM6-TRIM34 HGNC ENSG00000258588 57 0 0 57 13 18.5714 OR52E8 0 genome.wustl.edu 37 11 5878346 5878346 + Missense_Mutation SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 11 5878346 5878346 G A SNP OR52E8 ENST00000537935 human ensembl 74_37 -1 known missense c.587 p.A196V 0.498 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52E8 HGNC ENSG00000183269 175 0 0 180 16 8.16327 OSBP 0 genome.wustl.edu 37 11 59376145 59376145 + Missense_Mutation SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 11 59376145 59376145 G A SNP OSBP ENST00000263847 human ensembl 74_37 -1 known missense c.634 p.R212W 0.999 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP HGNC ENSG00000110048 126 0 0 55 42 43.299 MS4A10 0 genome.wustl.edu 37 11 60559761 60559761 + Silent SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 11 60559761 60559761 G A SNP MS4A10 ENST00000308287 human ensembl 74_37 +1 known silent c.327 p.A109 0.000 pfam_CD20-like pfam_CD20-like - no_errors MS4A10 HGNC ENSG00000172689 217 0 0 102 24 19.0476 SCGB1D1 0 genome.wustl.edu 37 11 61960896 61960896 + Missense_Mutation SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 11 61960896 61960896 G A SNP SCGB1D1 ENST00000306238 human ensembl 74_37 +1 known missense c.269 p.R90H 0.000 NULL pfam_Secretoglobin,superfamily_Secretoglobin - no_errors SCGB1D1 HGNC ENSG00000168515 73 0 0 35 18 33.9623 ASRGL1 0 genome.wustl.edu 37 11 62156818 62156818 + Silent SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 11 62156818 62156818 C T SNP ASRGL1 ENST00000535727 human ensembl 74_37 +1 known silent c.321 p.C107 0.000 NULL pfam_Peptidase_T2 - no_errors ASRGL1 HGNC ENSG00000162174 39 0 0 14 5 26.3158 GANAB 0 genome.wustl.edu 37 11 62400952 62400952 + Missense_Mutation SNP C C G TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 11 62400952 62400952 C G SNP GANAB ENST00000346178 human ensembl 74_37 -1 known missense c.661 p.A221P 1.000 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom - no_errors GANAB HGNC ENSG00000089597 193 0 0 80 20 20 CCKBR 0 genome.wustl.edu 37 11 6291352 6291352 + Silent SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 11 6291352 6291352 G A SNP CCKBR ENST00000525462 human ensembl 74_37 +1 known silent c.438 p.V146 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 76 0 0 44 64 59.2593 NRXN2 0 genome.wustl.edu 37 11 64410011 64410011 + Missense_Mutation SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 11 64410011 64410011 C T SNP NRXN2 ENST00000301894 human ensembl 74_37 -1 novel missense c.265 p.A89T 1.000 superfamily_ConA-like_lec_gl_sf pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Neurexin-like,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 34 0 0 16 3 15.7895 GSTP1 0 genome.wustl.edu 37 11 67351315 67351315 + Missense_Mutation SNP A A G TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 11 67351315 67351315 A G SNP GSTP1 ENST00000398606 human ensembl 74_37 +1 known missense c.1 p.M1V 0.506 superfamily_Thioredoxin-like_fold pfam_GST_C,pfam_Glutathione_S-Trfase_N,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_pi - no_errors GSTP1 HGNC ENSG00000084207 20 0 0 4 3 42.8571 OR2AG2 0 genome.wustl.edu 37 11 6789246 6789246 + Missense_Mutation SNP T T C TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 11 6789246 6789246 T C SNP OR2AG2 ENST00000338569 human ensembl 74_37 -1 known missense c.943 p.T315A 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AG2 HGNC ENSG00000188124 83 0 0 47 24 33.8028 MRGPRF 0 genome.wustl.edu 37 11 68772961 68772961 + Nonsense_Mutation SNP C C A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 11 68772961 68772961 C A SNP MRGPRF ENST00000309099 human ensembl 74_37 -1 known nonsense c.817 p.E273* 0.792 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRF HGNC ENSG00000172935 18 0 0 6 5 45.4545 TPCN2 0 genome.wustl.edu 37 11 68853143 68853143 + Missense_Mutation SNP G G C TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 11 68853143 68853143 G C SNP TPCN2 ENST00000294309 human ensembl 74_37 +1 known missense c.1843 p.A615P 0.575 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors TPCN2 HGNC ENSG00000162341 192 0 0 81 22 21.3592 INTS4 0 genome.wustl.edu 37 11 77690106 77690106 + Missense_Mutation SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 11 77690106 77690106 G A SNP INTS4 ENST00000534064 human ensembl 74_37 -1 known missense c.407 p.A136V 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors INTS4 HGNC ENSG00000149262 161 0 0 93 63 40.3846 WNK1 0 genome.wustl.edu 37 12 1005523 1005523 + Missense_Mutation SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 12 1005523 1005523 G A SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known missense c.7364 p.R2455H 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 233 0 0 58 53 47.7477 TRIAP1 0 genome.wustl.edu 37 12 120882752 120882752 + Missense_Mutation SNP T T C TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 12 120882752 120882752 T C SNP TRIAP1 ENST00000546954 human ensembl 74_37 -1 known missense c.154 p.I52V 1.000 pfam_MDM35_apoptosis pfam_MDM35_apoptosis - no_errors TRIAP1 HGNC ENSG00000170855 233 0 0 128 35 21.4724 RIMBP2 0 genome.wustl.edu 37 12 130897281 130897281 + Missense_Mutation SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 12 130897281 130897281 G A SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known missense c.2704 p.R902W 0.999 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 105 0 0 27 29 51.7857 MMP17 0 genome.wustl.edu 37 12 132325376 132325376 + Silent SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 12 132325376 132325376 C T SNP MMP17 ENST00000360564 human ensembl 74_37 +1 known silent c.681 p.D227 0.666 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP17 HGNC ENSG00000198598 47 0 0 24 4 14.2857 SMARCC2 0 genome.wustl.edu 37 12 56559122 56559122 + Missense_Mutation SNP A A C TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 12 56559122 56559122 A C SNP SMARCC2 ENST00000267064 human ensembl 74_37 -1 known missense c.3119 p.V1040G 0.997 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 165 0 0 64 12 15.7895 PLEKHG6 0 genome.wustl.edu 37 12 6436699 6436699 + Silent SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 12 6436699 6436699 G A SNP PLEKHG6 ENST00000011684 human ensembl 74_37 +1 known silent c.1950 p.P650 0.020 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG6 HGNC ENSG00000008323 32 0 0 16 13 44.8276 OSBPL8 0 genome.wustl.edu 37 12 76780411 76780411 + Missense_Mutation SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 12 76780411 76780411 C T SNP OSBPL8 ENST00000261183 human ensembl 74_37 -1 known missense c.1382 p.R461H 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL8 HGNC ENSG00000091039 130 0 0 72 13 15.2941 TPTE2 0 genome.wustl.edu 37 13 20056679 20056679 + Missense_Mutation SNP T T G TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 13 20056679 20056679 T G SNP TPTE2 ENST00000382977 human ensembl 74_37 -1 known missense c.128 p.E43A 0.001 NULL pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 104 0 0 46 7 13.2075 TPTE2 0 genome.wustl.edu 37 13 20056686 20056686 + Missense_Mutation SNP T T C TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 13 20056686 20056686 T C SNP TPTE2 ENST00000382977 human ensembl 74_37 -1 known missense c.121 p.M41V 0.000 NULL pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 94 0 0 43 8 15.6863 FREM2 0 genome.wustl.edu 37 13 39262114 39262114 + Silent SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 13 39262114 39262114 C T SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known silent c.633 p.P211 0.012 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 23 0 0 25 6 19.3548 COG6 0 genome.wustl.edu 37 13 40297472 40297472 + Missense_Mutation SNP C C G TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 13 40297472 40297472 C G SNP COG6 ENST00000455146 human ensembl 74_37 +1 known missense c.1587 p.I529M 0.997 pfam_COG6 pfam_COG6 - no_errors COG6 HGNC ENSG00000133103 87 0 0 46 6 11.5385 MED4 0 genome.wustl.edu 37 13 48655862 48655862 + Missense_Mutation SNP T T C TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 13 48655862 48655862 T C SNP MED4 ENST00000258648 human ensembl 74_37 -1 known missense c.427 p.I143V 1.000 pfam_Mediator_Med4 pfam_Mediator_Med4 - no_errors MED4 HGNC ENSG00000136146 46 0 0 37 3 7.5 SLITRK5 0 genome.wustl.edu 37 13 88329187 88329187 + Missense_Mutation SNP A A G TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 13 88329187 88329187 A G SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.1544 p.N515S 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 158 0 0 68 8 10.5263 GPC5 0 genome.wustl.edu 37 13 92560278 92560278 + Missense_Mutation SNP T T A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 13 92560278 92560278 T A SNP GPC5 ENST00000377067 human ensembl 74_37 +1 known missense c.1368 p.N456K 1.000 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 83 0 0 22 33 60 AKT1 0 genome.wustl.edu 37 14 105237106 105237106 + Missense_Mutation SNP T T C TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 14 105237106 105237106 T C SNP AKT1 ENST00000349310 human ensembl 74_37 -1 known missense c.1339 p.I447V 1.000 pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_AGC-kinase_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom - no_errors AKT1 HGNC ENSG00000142208 83 0 0 24 10 29.4118 FRMD6 0 genome.wustl.edu 37 14 52171626 52171626 + Missense_Mutation SNP C C A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 14 52171626 52171626 C A SNP FRMD6 ENST00000344768 human ensembl 74_37 +1 known missense c.531 p.F177L 0.998 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD6 HGNC ENSG00000139926 88 0 0 36 10 21.7391 PLEKHG3 0 genome.wustl.edu 37 14 65207906 65207906 + Silent SNP A A G TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 14 65207906 65207906 A G SNP PLEKHG3 ENST00000394691 human ensembl 74_37 +1 known silent c.1671 p.P557 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC ENSG00000126822 310 0 0 90 17 15.8879 ADAM21P1 0 genome.wustl.edu 37 14 70712623 70712623 + RNA SNP G G C TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 14 70712623 70712623 G C SNP ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ADAM21P1 HGNC ENSG00000235812 133 0 0 85 12 12.3711 NEK9 0 genome.wustl.edu 37 14 75551205 75551205 + RNA SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 14 75551205 75551205 G A SNP NEK9 ENST00000555763 human ensembl 74_37 -1 putative rna NULL NULL 0.998 - - - no_errors NEK9 HGNC ENSG00000119638 488 0 0 194 92 32.1678 C14orf159 0 genome.wustl.edu 37 14 91642287 91642287 + Missense_Mutation SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 14 91642287 91642287 G A SNP C14orf159 ENST00000256324 human ensembl 74_37 +1 known missense c.617 p.G206E 0.972 pfam_DUF1445,pirsf_UPF0317_mt pfam_DUF1445,pirsf_UPF0317_mt - no_errors C14orf159 HGNC ENSG00000133943 139 0 0 52 23 30.6667 BDKRB2 0 genome.wustl.edu 37 14 96706782 96706782 + Silent SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 14 96706782 96706782 C T SNP BDKRB2 ENST00000306005 human ensembl 74_37 +1 known silent c.117 p.N39 0.840 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Brdyknn_2_rcpt,prints_GPCR_Rhodpsn,prints_Brdyknn_rcpt,prints_ATII_rcpt - no_errors BDKRB2 HGNC ENSG00000168398 416 0 0 186 125 40.1929 NPAP1 0 genome.wustl.edu 37 15 24921489 24921489 + Missense_Mutation SNP A A G TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 15 24921489 24921489 A G SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.475 p.R159G 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 85 0 0 40 9 18.3673 EIF2AK4 0 genome.wustl.edu 37 15 40284379 40284379 + Missense_Mutation SNP G G C TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 15 40284379 40284379 G C SNP EIF2AK4 ENST00000263791 human ensembl 74_37 +1 known missense c.2635 p.D879H 0.999 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,pirsf_Ser/Thr_kinase_GCN2,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_dom - no_errors EIF2AK4 HGNC ENSG00000128829 134 0 0 60 13 17.8082 NUSAP1 0 genome.wustl.edu 37 15 41663821 41663821 + Silent SNP A A T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 15 41663821 41663821 A T SNP NUSAP1 ENST00000559596 human ensembl 74_37 +1 known silent c.945 p.P315 0.884 NULL NULL - no_errors NUSAP1 HGNC ENSG00000137804 91 0 0 39 16 29.0909 SLC12A1 0 genome.wustl.edu 37 15 48536975 48536975 + Silent SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 15 48536975 48536975 C T SNP SLC12A1 ENST00000380993 human ensembl 74_37 +1 known silent c.1326 p.T442 0.413 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A1 HGNC ENSG00000074803 63 0 0 17 13 43.3333 DMXL2 0 genome.wustl.edu 37 15 51766637 51766637 + Missense_Mutation SNP C C A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 15 51766637 51766637 C A SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.7117 p.A2373S 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 123 0 0 46 28 37.8378 WDR72 0 genome.wustl.edu 37 15 53889438 53889438 + Missense_Mutation SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 15 53889438 53889438 C T SNP WDR72 ENST00000360509 human ensembl 74_37 -1 known missense c.2986 p.E996K 0.974 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 252 0 0 142 36 20.2247 ERN2 0 genome.wustl.edu 37 16 23713854 23713854 + Missense_Mutation SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 16 23713854 23713854 C T SNP ERN2 ENST00000256797 human ensembl 74_37 -1 known missense c.1082 p.R361H 1.000 NULL 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 324 0 0 124 19 13.2867 CDH8 0 genome.wustl.edu 37 16 62055135 62055135 + Missense_Mutation SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 16 62055135 62055135 C T SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known missense c.173 p.R58H 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 120 0 0 31 27 46.5517 PHLPP2 0 genome.wustl.edu 37 16 71712742 71712742 + Missense_Mutation SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 16 71712742 71712742 C T SNP PHLPP2 ENST00000356272 human ensembl 74_37 -1 known missense c.1184 p.R395K 1.000 NULL pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom - no_errors PHLPP2 HGNC ENSG00000040199 126 0 0 61 16 20.7792 ZC3H18 0 genome.wustl.edu 37 16 88689644 88689644 + Missense_Mutation SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 16 88689644 88689644 C T SNP ZC3H18 ENST00000301011 human ensembl 74_37 +1 known missense c.1685 p.S562L 0.986 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 67 0 0 16 6 27.2727 MAP2K3 0 genome.wustl.edu 37 17 21204253 21204253 + Missense_Mutation SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 17 21204253 21204253 G A SNP MAP2K3 ENST00000342679 human ensembl 74_37 +1 known missense c.347 p.R116H 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_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 MAP2K3 HGNC ENSG00000034152 223 0 0 70 10 12.5 KCNJ12 0 genome.wustl.edu 37 17 21319795 21319795 + Silent SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 17 21319795 21319795 C T SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known silent c.1141 p.L381 1.000 pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 176 0 0 48 10 17.2414 ENSG00000266981 0 genome.wustl.edu 37 17 33518164 33518164 + RNA SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 17 33518164 33518164 C T SNP ENSG00000266981 ENST00000590144 human ensembl 74_37 +1 putative rna NULL NULL 0.068 - - - no_errors RP11-799D4.2 Clone_based_vega_gene ENSG00000266981 187 0 0 73 53 42.0635 KRTAP4-6 0 genome.wustl.edu 37 17 39296361 39296361 + Missense_Mutation SNP A A G TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 17 39296361 39296361 A G SNP KRTAP4-6 ENST00000345847 human ensembl 74_37 -1 known missense c.379 p.S127P 0.000 NULL pfam_Keratin-assoc - no_errors KRTAP4-6 HGNC ENSG00000198090 75 0 0 40 5 11.1111 BRCA1 0 genome.wustl.edu 37 17 41209095 41209095 + Nonsense_Mutation SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 17 41209095 41209095 G A SNP BRCA1 ENST00000471181 human ensembl 74_37 -1 known nonsense c.5314 p.R1772* 1.000 pirsf_BRCA1,superfamily_BRCT_dom pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 406 0 0 148 43 22.5131 GPATCH8 0 genome.wustl.edu 37 17 42478511 42478511 + Missense_Mutation SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 17 42478511 42478511 G A SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known missense c.934 p.L312F 1.000 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 412 0 0 161 53 24.7664 CSHL1 0 genome.wustl.edu 37 17 61988514 61988514 + RNA SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 17 61988514 61988514 C T SNP CSHL1 ENST00000558099 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CSHL1 HGNC ENSG00000204414 123 0 0 56 15 21.1268 RGS9 0 genome.wustl.edu 37 17 63200383 63200383 + Silent SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 17 63200383 63200383 C T SNP RGS9 ENST00000262406 human ensembl 74_37 +1 known silent c.1167 p.D389 0.623 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS9 HGNC ENSG00000108370 112 0 0 32 17 34.6939 TP53 0 genome.wustl.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 17 7577538 7577538 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.743 p.R248Q 1.000 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 119 0 0 17 23 57.5 CDH2 0 genome.wustl.edu 37 18 25532229 25532229 + Nonsense_Mutation SNP A A T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 18 25532229 25532229 A T SNP CDH2 ENST00000269141 human ensembl 74_37 -1 known nonsense c.2609 p.L870* 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH2 HGNC ENSG00000170558 195 0 0 92 8 8 ME2 0 genome.wustl.edu 37 18 48473692 48473692 + RNA SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 18 48473692 48473692 C T SNP ME2 ENST00000585680 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ME2 HGNC ENSG00000082212 13 0 0 9 3 25 SMAD4 0 genome.wustl.edu 37 18 48591888 48591888 + Missense_Mutation SNP G G T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 18 48591888 48591888 G T SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known missense c.1051 p.D351Y 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 148 0 0 46 32 41.0256 ATP9B 0 genome.wustl.edu 37 18 77096644 77096644 + Missense_Mutation SNP G G C TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 18 77096644 77096644 G C SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known missense c.2045 p.R682P 0.832 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9B HGNC ENSG00000166377 61 0 0 12 9 42.8571 ANKRD12 0 genome.wustl.edu 37 18 9211713 9211713 + Missense_Mutation SNP C C G TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 18 9211713 9211713 C G SNP ANKRD12 ENST00000262126 human ensembl 74_37 +1 known missense c.583 p.R195G 0.998 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 122 0 0 87 10 10.3093 UNC13A 0 genome.wustl.edu 37 19 17746834 17746834 + Missense_Mutation SNP G G T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 19 17746834 17746834 G T SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known missense c.3478 p.Q1160K 1.000 pfam_Ca-dep_secretion_activator pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 49 0 0 20 3 13.0435 KIAA1683 0 genome.wustl.edu 37 19 18376067 18376067 + Silent SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 19 18376067 18376067 C T SNP KIAA1683 ENST00000392413 human ensembl 74_37 -1 known silent c.2283 p.Q761 0.001 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors KIAA1683 HGNC ENSG00000130518 244 1 0.408163 107 12 10.084 ZNF208 0 genome.wustl.edu 37 19 22157559 22157559 + Missense_Mutation SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 19 22157559 22157559 C T SNP ZNF208 ENST00000599916 human ensembl 74_37 -1 putative missense c.277 p.D93N 0.000 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 64 0 0 48 6 11.1111 TBXA2R 0 genome.wustl.edu 37 19 3595741 3595741 + Missense_Mutation SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 19 3595741 3595741 C T SNP TBXA2R ENST00000411851 human ensembl 74_37 -1 known missense c.977 p.R326Q 0.425 prints_Thbox_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn - no_errors TBXA2R HGNC ENSG00000006638 30 0 0 2 9 81.8182 ARHGAP33 0 genome.wustl.edu 37 19 36279135 36279135 + Missense_Mutation SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 19 36279135 36279135 C T SNP ARHGAP33 ENST00000007510 human ensembl 74_37 +1 known missense c.3668 p.P1223L 0.003 NULL pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 59 0 0 29 3 9.375 ZNF571 0 genome.wustl.edu 37 19 38056530 38056530 + Missense_Mutation SNP G G C TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 19 38056530 38056530 G C SNP ZNF571 ENST00000328550 human ensembl 74_37 -1 known missense c.800 p.T267S 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF571 HGNC ENSG00000180479 69 0 0 38 16 29.6296 DLL3 0 genome.wustl.edu 37 19 39995913 39995913 + Silent SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 19 39995913 39995913 C T SNP DLL3 ENST00000205143 human ensembl 74_37 +1 known silent c.915 p.Y305 0.992 pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DLL3 HGNC ENSG00000090932 210 0 0 65 18 21.6867 CYP2A6 0 genome.wustl.edu 37 19 41352824 41352824 + Missense_Mutation SNP A A T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 19 41352824 41352824 A T SNP CYP2A6 ENST00000301141 human ensembl 74_37 -1 known missense c.787 p.S263T 0.936 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A6 HGNC ENSG00000255974 126 0 0 40 16 28.5714 CYP2A7 0 genome.wustl.edu 37 19 41388043 41388043 + Missense_Mutation SNP G G T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 19 41388043 41388043 G T SNP CYP2A7 ENST00000301146 human ensembl 74_37 -1 known missense c.73 p.Q25K 0.000 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2B-like - no_errors CYP2A7 HGNC ENSG00000198077 106 0 0 38 11 22.449 CIC 0 genome.wustl.edu 37 19 42795827 42795827 + Missense_Mutation SNP G G C TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 19 42795827 42795827 G C SNP CIC ENST00000575354 human ensembl 74_37 +1 known missense c.2816 p.G939A 0.998 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 209 0 0 63 29 31.5217 CEACAM8 0 genome.wustl.edu 37 19 43093141 43093141 + Silent SNP T T C TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 19 43093141 43093141 T C SNP CEACAM8 ENST00000244336 human ensembl 74_37 -1 known silent c.753 p.A251 0.001 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM8 HGNC ENSG00000124469 170 0 0 56 21 27.2727 PNMAL2 0 genome.wustl.edu 37 19 46997202 46997202 + Silent SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 19 46997202 46997202 C T SNP PNMAL2 ENST00000599531 human ensembl 74_37 -1 known silent c.1521 p.S507 0.003 NULL NULL - no_errors PNMAL2 HGNC ENSG00000204851 141 0 0 37 18 32.7273 ZSCAN18 0 genome.wustl.edu 37 19 58596563 58596563 + Missense_Mutation SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 19 58596563 58596563 G A SNP ZSCAN18 ENST00000600404 human ensembl 74_37 -1 known missense c.1190 p.A397V 0.000 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN18 HGNC ENSG00000121413 56 0 0 11 5 31.25 GREB1 0 genome.wustl.edu 37 2 11774338 11774338 + Silent SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 2 11774338 11774338 C T SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known silent c.5073 p.Y1691 0.955 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 167 0 0 71 9 11.25 TBR1 0 genome.wustl.edu 37 2 162274733 162274733 + Missense_Mutation SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 2 162274733 162274733 C T SNP TBR1 ENST00000389554 human ensembl 74_37 +1 known missense c.869 p.P290L 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBR1 HGNC ENSG00000136535 90 0 0 37 10 21.2766 KCNH7 0 genome.wustl.edu 37 2 163302875 163302875 + Missense_Mutation SNP A A G TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 2 163302875 163302875 A G SNP KCNH7 ENST00000332142 human ensembl 74_37 -1 known missense c.1207 p.Y403H 1.000 prints_K_chnl_volt-dep_EAG/ELK/ERG pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 69 0 0 45 8 15.0943 KCTD18 0 genome.wustl.edu 37 2 201357899 201357899 + Missense_Mutation SNP T T C TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 2 201357899 201357899 T C SNP KCTD18 ENST00000359878 human ensembl 74_37 -1 known missense c.760 p.K254E 0.993 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD18 HGNC ENSG00000155729 80 0 0 28 19 40.4255 ACKR3 0 genome.wustl.edu 37 2 237489189 237489189 + Silent SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 2 237489189 237489189 C T SNP ACKR3 ENST00000272928 human ensembl 74_37 +1 known silent c.81 p.I27 0.136 prints_Chemokine_CXCR7 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR7,prints_GPCR_Rhodpsn,prints_ATII_rcpt,prints_Formyl_pep_rcpt - no_errors ACKR3 HGNC ENSG00000144476 69 0 0 19 7 26.9231 DHX57 0 genome.wustl.edu 37 2 39040977 39040977 + Missense_Mutation SNP G G C TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 2 39040977 39040977 G C SNP DHX57 ENST00000295373 human ensembl 74_37 -1 known missense c.3667 p.P1223A 1.000 pfam_DUF1605 pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_P-loop_NTPase,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX57 HGNC ENSG00000163214 131 0 0 63 22 25.8824 CTNNA2 0 genome.wustl.edu 37 2 80835419 80835419 + Silent SNP G G T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 2 80835419 80835419 G T SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known silent c.2508 p.L836 0.999 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 89 0 0 26 25 49.0196 XKR7 0 genome.wustl.edu 37 20 30584668 30584668 + Missense_Mutation SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 20 30584668 30584668 G A SNP XKR7 ENST00000562532 human ensembl 74_37 +1 known missense c.1148 p.R383H 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR7 HGNC ENSG00000260903 88 0 0 42 13 23.6364 BPIFB3 0 genome.wustl.edu 37 20 31644485 31644485 + Missense_Mutation SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 20 31644485 31644485 G A SNP BPIFB3 ENST00000375494 human ensembl 74_37 +1 known missense c.262 p.V88I 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_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB3 HGNC ENSG00000186190 106 0 0 46 9 16.3636 RBL1 0 genome.wustl.edu 37 20 35632270 35632270 + Splice_Site SNP C C G TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 20 35632270 35632270 C G SNP RBL1 ENST00000373664 human ensembl 74_37 -1 known splice_site c.2872-1 e21-1 1.000 - - - no_errors RBL1 HGNC ENSG00000080839 72 0 0 69 8 10.3896 SLC35C2 0 genome.wustl.edu 37 20 44987061 44987061 + Missense_Mutation SNP T T A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 20 44987061 44987061 T A SNP SLC35C2 ENST00000543605 human ensembl 74_37 -1 known missense c.172 p.I58F 1.000 pfam_UAA pfam_Tpt_PEP_trans_dom,pfam_UAA - no_errors SLC35C2 HGNC ENSG00000080189 145 0 0 79 18 18.5567 SPO11 0 genome.wustl.edu 37 20 55909089 55909089 + Missense_Mutation SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 20 55909089 55909089 G A SNP SPO11 ENST00000371263 human ensembl 74_37 +1 known missense c.448 p.V150I 1.000 pfam_Spo11/TopoVI_A_N,superfamily_Spo11/TopoVI_A,prints_Meiotic_Spo11,prints_Spo11/TopoVI_A,prints_TopoVI_A pfam_Meiosis_Spo11,pfam_Spo11/TopoVI_A_N,superfamily_Spo11/TopoVI_A,prints_Meiotic_Spo11,prints_Spo11/TopoVI_A,prints_TopoVI_A - no_errors SPO11 HGNC ENSG00000054796 51 0 0 70 5 6.66667 RAB22A 0 genome.wustl.edu 37 20 56928595 56928595 + Splice_Site SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 20 56928595 56928595 G A SNP RAB22A ENST00000244040 human ensembl 74_37 +1 known splice_site c.377+1 e5+1 1.000 - - - no_errors RAB22A HGNC ENSG00000124209 50 0 0 46 5 9.80392 SYCP2 0 genome.wustl.edu 37 20 58495501 58495501 + Silent SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 20 58495501 58495501 C T SNP SYCP2 ENST00000357552 human ensembl 74_37 -1 known silent c.210 p.L70 0.311 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 26 0 0 36 11 23.4043 MCM8 0 genome.wustl.edu 37 20 5948171 5948171 + Missense_Mutation SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 20 5948171 5948171 G A SNP MCM8 ENST00000378886 human ensembl 74_37 +1 known missense c.965 p.S322N 1.000 superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM8 HGNC ENSG00000125885 157 0 0 65 33 33.6735 TMPRSS15 0 genome.wustl.edu 37 21 19653455 19653455 + Missense_Mutation SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 21 19653455 19653455 C T SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known missense c.2570 p.R857Q 0.001 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 250 0 0 94 70 42.6829 GRIK1 0 genome.wustl.edu 37 21 31066220 31066220 + Missense_Mutation SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 21 31066220 31066220 C T SNP GRIK1 ENST00000535441 human ensembl 74_37 -1 known missense c.281 p.R94Q 0.998 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK1 HGNC ENSG00000171189 171 0 0 87 29 25 GART 0 genome.wustl.edu 37 21 34889792 34889792 + Missense_Mutation SNP T T A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 21 34889792 34889792 T A SNP GART ENST00000381815 human ensembl 74_37 -1 known missense c.1826 p.D609V 0.998 pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,tigrfam_PurM_cligase pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans - no_errors GART HGNC ENSG00000159131 328 0 0 187 23 10.9524 MIR648 0 genome.wustl.edu 37 22 18463712 18463712 + RNA SNP T T C TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 22 18463712 18463712 T C SNP MIR648 ENST00000385046 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR648 HGNC ENSG00000207780 28 0 0 20 6 23.0769 DGCR8 0 genome.wustl.edu 37 22 20079078 20079078 + Missense_Mutation SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 22 20079078 20079078 C T SNP DGCR8 ENST00000351989 human ensembl 74_37 +1 known missense c.1427 p.A476V 1.000 NULL pfam_dsRNA-bd_dom,superfamily_WW_dom,smart_WW_dom,smart_dsRNA-bd_dom,pfscan_WW_dom,pfscan_dsRNA-bd_dom - no_errors DGCR8 HGNC ENSG00000128191 594 0 0 211 84 28.4746 ASCC2 0 genome.wustl.edu 37 22 30209531 30209531 + Missense_Mutation SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 22 30209531 30209531 C T SNP ASCC2 ENST00000307790 human ensembl 74_37 -1 known missense c.721 p.E241K 1.000 NULL pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE - no_errors ASCC2 HGNC ENSG00000100325 79 0 0 25 3 10.7143 GTPBP1 0 genome.wustl.edu 37 22 39112921 39112921 + Silent SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 22 39112921 39112921 C T SNP GTPBP1 ENST00000216044 human ensembl 74_37 +1 known silent c.750 p.F250 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel - no_errors GTPBP1 HGNC ENSG00000100226 154 0 0 63 4 5.97015 PLXNA1 0 genome.wustl.edu 37 3 126707595 126707595 + Missense_Mutation SNP C C G TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 3 126707595 126707595 C G SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known missense c.159 p.H53Q 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,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 PLXNA1 HGNC ENSG00000114554 165 0 0 43 10 18.8679 NMD3 0 genome.wustl.edu 37 3 160964220 160964220 + Missense_Mutation SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 3 160964220 160964220 G A SNP NMD3 ENST00000351193 human ensembl 74_37 +1 known missense c.1114 p.G372R 1.000 NULL pfam_NMD3 - no_errors NMD3 HGNC ENSG00000169251 76 0 0 57 11 16.1765 CHRD 0 genome.wustl.edu 37 3 184101158 184101158 + Silent SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 3 184101158 184101158 C T SNP CHRD ENST00000204604 human ensembl 74_37 +1 known silent c.1272 p.A424 0.315 pfam_CHRD,smart_CHRD,pirsf_Chordin,pfscan_CHRD pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C - no_errors CHRD HGNC ENSG00000090539 147 0 0 82 15 15.4639 FAM212A 0 genome.wustl.edu 37 3 49842272 49842272 + Missense_Mutation SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 3 49842272 49842272 G A SNP FAM212A ENST00000333323 human ensembl 74_37 +1 known missense c.716 p.R239K 1.000 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 240 0 0 56 26 31.7073 GRM7 0 genome.wustl.edu 37 3 6903381 6903381 + Silent SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 3 6903381 6903381 C T SNP GRM7 ENST00000402647 human ensembl 74_37 +1 known silent c.306 p.G102 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 57 0 0 24 12 33.3333 GPR27 0 genome.wustl.edu 37 3 71803433 71803433 + Missense_Mutation SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 3 71803433 71803433 C T SNP GPR27 ENST00000304411 human ensembl 74_37 +1 known missense c.233 p.A78V 0.914 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR27 HGNC ENSG00000170837 29 0 0 4 10 71.4286 ROBO2 0 genome.wustl.edu 37 3 77607240 77607240 + Silent SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 3 77607240 77607240 G A SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known silent c.1377 p.P459 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 158 0 0 74 24 24.4898 PCDH10 0 genome.wustl.edu 37 4 134073626 134073626 + Silent SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 4 134073626 134073626 G A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known silent c.2331 p.A777 0.922 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 52 0 0 24 7 22.5806 TBC1D9 0 genome.wustl.edu 37 4 141590135 141590135 + Silent SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 4 141590135 141590135 C T SNP TBC1D9 ENST00000442267 human ensembl 74_37 -1 known silent c.1524 p.T508 0.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9 HGNC ENSG00000109436 69 0 0 23 3 11.5385 DCHS2 0 genome.wustl.edu 37 4 155156232 155156232 + Missense_Mutation SNP T T A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 4 155156232 155156232 T A SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.8207 p.E2736V 0.000 NULL pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 66 0 0 46 18 28.125 KCTD8 0 genome.wustl.edu 37 4 44450414 44450414 + Missense_Mutation SNP G G C TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 4 44450414 44450414 G C SNP KCTD8 ENST00000360029 human ensembl 74_37 -1 known missense c.127 p.P43A 1.000 superfamily_BTB/POZ_fold pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD8 HGNC ENSG00000183783 60 0 0 13 3 18.75 ANKRD17 0 genome.wustl.edu 37 4 74005554 74005554 + Missense_Mutation SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 4 74005554 74005554 C T SNP ANKRD17 ENST00000358602 human ensembl 74_37 -1 known missense c.2779 p.A927T 1.000 pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKRD17 HGNC ENSG00000132466 192 0 0 75 31 29.2453 APC 0 genome.wustl.edu 37 5 112179441 112179441 + Missense_Mutation SNP G G C TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 5 112179441 112179441 G C SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.8150 p.G2717A 1.000 pfam_EB1-bd pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 151 0 0 66 26 28.2609 BRD8 0 genome.wustl.edu 37 5 137503737 137503737 + Missense_Mutation SNP C C A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 5 137503737 137503737 C A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.673 p.G225C 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 239 0 0 61 28 31.4607 BRD8 0 genome.wustl.edu 37 5 137503739 137503739 + Missense_Mutation SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 5 137503739 137503739 G A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.671 p.S224F 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 236 0 0 62 38 38 PCDHA4 0 genome.wustl.edu 37 5 140188818 140188818 + Silent SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 5 140188818 140188818 G A SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known silent c.2046 p.A682 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 157 0 0 35 17 32.6923 PCDHGB1 0 genome.wustl.edu 37 5 140731844 140731844 + Missense_Mutation SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 5 140731844 140731844 G A SNP PCDHGB1 ENST00000523390 human ensembl 74_37 +1 known missense c.2017 p.D673N 0.434 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 371 0 0 89 22 19.8198 SCGB3A2 0 genome.wustl.edu 37 5 147261134 147261134 + Missense_Mutation SNP G G C TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 5 147261134 147261134 G C SNP SCGB3A2 ENST00000296694 human ensembl 74_37 +1 known missense c.181 p.E61Q 0.999 pfam_Secretoglobin pfam_Secretoglobin - no_errors SCGB3A2 HGNC ENSG00000164265 138 0 0 49 18 26.8657 KIF4B 0 genome.wustl.edu 37 5 154395374 154395374 + Missense_Mutation SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 5 154395374 154395374 G A SNP KIF4B ENST00000435029 human ensembl 74_37 +1 known missense c.1955 p.R652H 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 236 0 0 82 30 26.7857 EBF1 0 genome.wustl.edu 37 5 158250212 158250212 + Silent SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 5 158250212 158250212 C T SNP EBF1 ENST00000313708 human ensembl 74_37 -1 known silent c.750 p.S250 1.000 NULL pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT - no_errors EBF1 HGNC ENSG00000164330 121 0 0 29 13 30.9524 FBXL7 0 genome.wustl.edu 37 5 15928122 15928122 + Missense_Mutation SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 5 15928122 15928122 C T SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known missense c.251 p.T84M 1.000 NULL pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL7 HGNC ENSG00000183580 59 0 0 30 7 18.9189 FBXL7 0 genome.wustl.edu 37 5 15936833 15936833 + Silent SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 5 15936833 15936833 C T SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known silent c.1014 p.S338 0.854 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL7 HGNC ENSG00000183580 38 0 0 13 4 23.5294 HMP19 0 genome.wustl.edu 37 5 173534384 173534384 + Missense_Mutation SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 5 173534384 173534384 G A SNP HMP19 ENST00000303177 human ensembl 74_37 +1 known missense c.392 p.R131H 1.000 pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp - no_errors NSG2 Uniprot_gn ENSG00000170091 149 0 0 44 24 35.2941 AGXT2 0 genome.wustl.edu 37 5 35039557 35039557 + Silent SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 5 35039557 35039557 C T SNP AGXT2 ENST00000231420 human ensembl 74_37 -1 known silent c.234 p.V78 0.000 superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors AGXT2 HGNC ENSG00000113492 109 0 0 62 4 6.06061 ENSG00000248477 0 genome.wustl.edu 37 5 68902954 68902954 + RNA SNP G G T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 5 68902954 68902954 G T SNP ENSG00000248477 ENST00000510264 human ensembl 74_37 +1 known rna NULL NULL 0.017 - - - no_errors RP11-848G14.2 Clone_based_vega_gene ENSG00000248477 233 0 0 100 13 11.5044 DMGDH 0 genome.wustl.edu 37 5 78329126 78329126 + Silent SNP G G T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 5 78329126 78329126 G T SNP DMGDH ENST00000255189 human ensembl 74_37 -1 known silent c.1299 p.G433 1.000 NULL pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_SoxG - no_errors DMGDH HGNC ENSG00000132837 168 0 0 57 24 29.6296 RNF182 0 genome.wustl.edu 37 6 13977677 13977677 + Silent SNP G G T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 6 13977677 13977677 G T SNP RNF182 ENST00000488300 human ensembl 74_37 +1 known silent c.327 p.L109 0.998 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF182 HGNC ENSG00000180537 116 0 0 28 32 53.3333 NMBR 0 genome.wustl.edu 37 6 142409655 142409655 + Silent SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 6 142409655 142409655 C T SNP NMBR ENST00000258042 human ensembl 74_37 -1 known silent c.141 p.P47 0.795 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NeuroB_rcpt,prints_Bombsn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NMBR HGNC ENSG00000135577 80 0 0 43 11 20.3704 SYNE1 0 genome.wustl.edu 37 6 152847284 152847284 + Silent SNP A A G TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 6 152847284 152847284 A G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.156 p.D52 0.867 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 93 0 0 65 4 5.7971 HLA-V 0 genome.wustl.edu 37 6 29760256 29760256 + RNA SNP C C A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 6 29760256 29760256 C A SNP HLA-V ENST00000446817 human ensembl 74_37 +1 known rna NULL NULL 0.714 - - - no_errors HLA-V HGNC ENSG00000181126 9 0 0 0 8 100 HLA-DRB6 0 genome.wustl.edu 37 6 32522721 32522721 + RNA SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 6 32522721 32522721 G A SNP HLA-DRB6 ENST00000411500 human ensembl 74_37 -1 known rna NULL NULL 0.981 - - - no_errors HLA-DRB6 HGNC ENSG00000229391 29 0 0 7 3 30 ARMC12 0 genome.wustl.edu 37 6 35705833 35705833 + Missense_Mutation SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 6 35705833 35705833 C T SNP ARMC12 ENST00000288065 human ensembl 74_37 +1 known missense c.274 p.R92W 0.995 superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMC12 HGNC ENSG00000157343 176 0 0 27 48 64 CLPSL2 0 genome.wustl.edu 37 6 35747233 35747233 + Missense_Mutation SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 6 35747233 35747233 G A SNP CLPSL2 ENST00000360454 human ensembl 74_37 +1 known missense c.388 p.D130N 0.063 NULL NULL - no_errors CLPSL2 HGNC ENSG00000196748 10 0 0 1 5 83.3333 GLTSCR1L 0 genome.wustl.edu 37 6 42819869 42819869 + Missense_Mutation SNP G G C TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 6 42819869 42819869 G C SNP GLTSCR1L ENST00000314073 human ensembl 74_37 +1 known missense c.1879 p.A627P 0.958 NULL NULL - no_errors GLTSCR1L HGNC ENSG00000112624 114 0 0 76 9 10.5882 EFHC1 0 genome.wustl.edu 37 6 52288904 52288904 + Missense_Mutation SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 6 52288904 52288904 G A SNP EFHC1 ENST00000371068 human ensembl 74_37 +1 known missense c.224 p.G75D 0.942 NULL pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_hand_dom - no_errors EFHC1 HGNC ENSG00000096093 111 0 0 70 9 11.3924 BMP5 0 genome.wustl.edu 37 6 55638913 55638913 + Nonsense_Mutation SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 6 55638913 55638913 G A SNP BMP5 ENST00000370830 human ensembl 74_37 -1 known nonsense c.961 p.R321* 1.000 NULL pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP5 HGNC ENSG00000112175 187 1 0.531915 74 26 26 ZNF292 0 genome.wustl.edu 37 6 87971420 87971420 + Silent SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 6 87971420 87971420 C T SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known silent c.8073 p.T2691 0.798 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 66 0 0 18 8 30.7692 PPP1R3A 0 genome.wustl.edu 37 7 113558904 113558904 + Missense_Mutation SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 7 113558904 113558904 C T SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.148 p.E50K 1.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 169 0 0 94 13 12.1495 THSD7A 0 genome.wustl.edu 37 7 11581178 11581178 + Missense_Mutation SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 7 11581178 11581178 C T SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known missense c.1690 p.E564K 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 76 0 0 35 9 20.4545 LRRC4 0 genome.wustl.edu 37 7 127670327 127670327 + Missense_Mutation SNP C C G TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 7 127670327 127670327 C G SNP LRRC4 ENST00000249363 human ensembl 74_37 -1 known missense c.367 p.A123P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4 HGNC ENSG00000128594 138 0 0 49 22 30.9859 SOSTDC1 0 genome.wustl.edu 37 7 16502239 16502239 + Silent SNP G G T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 7 16502239 16502239 G T SNP SOSTDC1 ENST00000307068 human ensembl 74_37 -1 known silent c.555 p.A185 0.998 pfam_Sclerostin/SOSTDC1 pfam_Sclerostin/SOSTDC1,pfam_Cys_knot,pfam_DAN,pfscan_Cys_knot_C - no_errors SOSTDC1 HGNC ENSG00000171243 243 0 0 141 39 21.6667 SDK1 0 genome.wustl.edu 37 7 4007048 4007048 + Missense_Mutation SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 7 4007048 4007048 G A SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.1528 p.A510T 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 174 0 0 52 26 33.3333 GLI3 0 genome.wustl.edu 37 7 42004061 42004061 + Missense_Mutation SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 7 42004061 42004061 C T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.4610 p.R1537H 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 91 0 0 32 15 31.9149 WBSCR17 0 genome.wustl.edu 37 7 70597921 70597921 + Missense_Mutation SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 7 70597921 70597921 C T SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known missense c.133 p.R45C 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 54 0 0 24 3 11.1111 LRP12 0 genome.wustl.edu 37 8 105521183 105521183 + Missense_Mutation SNP C C T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 8 105521183 105521183 C T SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.199 p.E67K 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 124 0 0 70 33 32.0388 ADCY8 0 genome.wustl.edu 37 8 132052325 132052325 + Silent SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 8 132052325 132052325 G A SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known silent c.255 p.G85 0.615 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 9 0 0 1 3 75 TUSC3 0 genome.wustl.edu 37 8 15517142 15517142 + Missense_Mutation SNP A A G TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 8 15517142 15517142 A G SNP TUSC3 ENST00000503731 human ensembl 74_37 +1 known missense c.553 p.R185G 1.000 pfam_OligosaccharylTrfase_OST3/OST6,superfamily_Thioredoxin-like_fold pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TUSC3 HGNC ENSG00000104723 205 0 0 59 51 46.3636 CHD7 0 genome.wustl.edu 37 8 61655066 61655066 + Missense_Mutation SNP C C G TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 8 61655066 61655066 C G SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known missense c.1075 p.Q359E 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 130 0 0 54 20 27.027 TNC 0 genome.wustl.edu 37 9 117849170 117849170 + Missense_Mutation SNP G G T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 9 117849170 117849170 G T SNP TNC ENST00000350763 human ensembl 74_37 -1 known missense c.840 p.N280K 0.000 smart_EG-like_dom,pfscan_EG-like_dom 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_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 186 0 0 68 19 21.8391 LAMC3 0 genome.wustl.edu 37 9 133952593 133952593 + Missense_Mutation SNP G G T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 9 133952593 133952593 G T SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known missense c.3649 p.A1217S 0.569 NULL pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 152 0 0 14 25 64.1026 NOTCH1 0 genome.wustl.edu 37 9 139397647 139397647 + Silent SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 9 139397647 139397647 G A SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known silent c.5154 p.I1718 1.000 pfam_Notch_NODP_dom,pirsf_Notch,prints_Notch_1 pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 65 0 0 15 6 28.5714 RANBP6 0 genome.wustl.edu 37 9 6015555 6015555 + Missense_Mutation SNP T T G TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 9 6015555 6015555 T G SNP RANBP6 ENST00000259569 human ensembl 74_37 -1 known missense c.53 p.E18A 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 151 0 0 24 37 60.6557 SLC25A5 0 genome.wustl.edu 37 X 118604436 118604436 + Silent SNP T T C TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 X 118604436 118604436 T C SNP SLC25A5 ENST00000317881 human ensembl 74_37 +1 known silent c.699 p.T233 0.313 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor - no_errors SLC25A5 HGNC ENSG00000005022 80 0 0 35 3 7.89474 DCAF12L2 0 genome.wustl.edu 37 X 125299671 125299671 + Silent SNP G G C TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 X 125299671 125299671 G C SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known silent c.237 p.A79 0.681 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 45 0 0 9 12 57.1429 NUDT10 0 genome.wustl.edu 37 X 51076235 51076235 + Missense_Mutation SNP C C G TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 X 51076235 51076235 C G SNP NUDT10 ENST00000356450 human ensembl 74_37 +1 known missense c.418 p.L140V 0.998 NULL pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT10 HGNC ENSG00000122824 29 0 0 24 6 20 MAGEE1 0 genome.wustl.edu 37 X 75650189 75650189 + Silent SNP G G A TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 X 75650189 75650189 G A SNP MAGEE1 ENST00000361470 human ensembl 74_37 +1 known silent c.1866 p.G622 0.049 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 49 0 0 22 8 26.6667 RIC3 0 genome.wustl.edu 37 11 8160039 8160039 + RNA DEL A A - TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 11 8160039 8160039 A - DEL RIC3 ENST00000524799 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RIC3 HGNC ENSG00000166405 12 0 0 20 3 13.0435 IPO7 0 genome.wustl.edu 37 11 9457876 9457878 + In_Frame_Del DEL TCA TCA - TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 TCA TCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 11 9457876 9457878 TCA - DEL IPO7 ENST00000379719 human ensembl 74_37 +1 known in_frame_del c.2231_2233 p.I746in_frame_del 1.000:0.993:1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO7 HGNC ENSG00000205339 81 0 0 48 13 21.3115 ANO6 0 genome.wustl.edu 37 12 45742406 45742427 + Splice_Site DEL CTCCATGATGTAAGTTAAAAGG CTCCATGATGTAAGTTAAAAGG - TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 CTCCATGATGTAAGTTAAAAGG CTCCATGATGTAAGTTAAAAGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 12 45742406 45742427 CTCCATGATGTAAGTTAAAAGG - DEL ANO6 ENST00000425752 human ensembl 74_37 +1 known splice_site_del c.747+10_747+1 e7-1 1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.994:0.832:0.628:0.269:0.144:0.000:0.000:0.000 - - - no_errors ANO6 HGNC ENSG00000177119 113 0 0 34 12 26.087 ABCA10 0 genome.wustl.edu 37 17 67151160 67151161 + Frame_Shift_Ins INS - - T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 17 67151160 67151161 - T INS ABCA10 ENST00000269081 human ensembl 74_37 -1 known frame_shift_ins c.3694_3693 p.G1231fs 1.000:1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 48 0 0 15 18 54.5455 ACPT 0 genome.wustl.edu 37 19 51293714 51293716 + In_Frame_Del DEL CTG CTG - TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 19 51293714 51293716 CTG - DEL ACPT ENST00000270594 human ensembl 74_37 +1 known in_frame_del c.43_45 p.L18in_frame_del 0.109:0.102:0.077 NULL pfam_His_Pase_superF_clade-2 - no_errors ACPT HGNC ENSG00000142513 28 0 0 4 3 42.8571 CBR3 0 genome.wustl.edu 37 21 37510174 37510175 + Frame_Shift_Ins INS - - T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 21 37510174 37510175 - T INS CBR3 ENST00000290354 human ensembl 74_37 +1 known frame_shift_ins c.341_342 p.A117fs 1.000:1.000 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors CBR3 HGNC ENSG00000159231 277 0 0 144 15 9.43396 PPM1M 0 genome.wustl.edu 37 3 52282218 52282219 + Frame_Shift_Ins INS - - CC TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 3 52282218 52282219 - CC INS PPM1M ENST00000457351 human ensembl 74_37 +1 known frame_shift_ins c.760_761 p.E256fs 1.000:1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1M HGNC ENSG00000164088 59 0 0 18 5 21.7391 GPR98 0 genome.wustl.edu 37 5 89941792 89941795 + Frame_Shift_Del DEL AAGA AAGA - TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 AAGA AAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 5 89941792 89941795 AAGA - DEL GPR98 ENST00000405460 human ensembl 74_37 +1 known frame_shift_del c.2906_2909 p.E970fs 1.000:1.000:1.000:1.000 smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 68 0 0 18 3 14.2857 HIST1H2BG 0 genome.wustl.edu 37 6 26216797 26216799 + In_Frame_Del DEL CTT CTT - TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 6 26216797 26216799 CTT - DEL HIST1H2BG ENST00000244601 human ensembl 74_37 -1 known in_frame_del c.75_73 p.K25in_frame_del 0.918:1.000:1.000 superfamily_Histone-fold pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BG HGNC ENSG00000187990 327 0 0 125 27 17.7632 DXO 0 genome.wustl.edu 37 6 31938777 31938809 + In_Frame_Del DEL CGGTGTCTCCACTTCACTCAGGTATAGTGTTCC CGGTGTCTCCACTTCACTCAGGTATAGTGTTCC - TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 CGGTGTCTCCACTTCACTCAGGTATAGTGTTCC CGGTGTCTCCACTTCACTCAGGTATAGTGTTCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 6 31938777 31938809 CGGTGTCTCCACTTCACTCAGGTATAGTGTTCC - DEL DXO ENST00000337523 human ensembl 74_37 -1 known in_frame_del c.504_472 p.GTLYLSEVETP158in_frame_del 0.005:0.050:0.052:0.002:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.958:0.968:0.919:0.380:0.998:0.997:0.811:1.000:1.000 NULL pfam_RAI1 - no_errors DXO HGNC ENSG00000204348 283 0 0 77 6 7.22892 ITGB8 0 genome.wustl.edu 37 7 20371449 20371450 + Frame_Shift_Ins INS - - T TCGA-HU-8243-01A-11D-2340-08 TCGA-HU-8243-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9635cfd4-3d26-4fc6-846c-fd74d5b60098 a711abd1-f1c2-4e42-8b66-79b4514ac1c4 7 20371449 20371450 - T INS ITGB8 ENST00000222573 human ensembl 74_37 +1 known frame_shift_ins c.20_21 p.T10fs 0.625:0.529 pirsf_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_EGF_extracell,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB8 HGNC ENSG00000105855 109 0 0 30 16 34.7826