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 VAV3 0 genome.wustl.edu 37 1 108152584 108152584 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 1 108152584 108152584 G A SNP VAV3 ENST00000370056 human ensembl 74_37 -1 known missense c.1984 p.P662S 1.000 superfamily_SH3_domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain,prints_SM22_calponin - no_errors VAV3 HGNC ENSG00000134215 196 0 0 75 7 8.53659 TTF2 0 genome.wustl.edu 37 1 117618400 117618400 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 1 117618400 117618400 C T SNP TTF2 ENST00000369466 human ensembl 74_37 +1 known silent c.1194 p.A398 0.001 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC ENSG00000116830 75 0 0 31 8 20.5128 DENND4B 0 genome.wustl.edu 37 1 153914789 153914789 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 1 153914789 153914789 C T SNP DENND4B ENST00000361217 human ensembl 74_37 -1 known silent c.684 p.P228 0.998 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 39 0 0 37 6 13.9535 HSPA6 0 genome.wustl.edu 37 1 161495096 161495096 + Silent SNP T T C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 1 161495096 161495096 T C SNP HSPA6 ENST00000309758 human ensembl 74_37 +1 known silent c.648 p.A216 0.212 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA6 HGNC ENSG00000173110 50 0 0 52 4 7.14286 DUSP27 0 genome.wustl.edu 37 1 167095080 167095080 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 1 167095080 167095080 G A SNP DUSP27 ENST00000271385 human ensembl 74_37 +1 known missense c.712 p.A238T 0.994 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC ENSG00000198842 88 0 0 71 9 11.25 TIPRL 0 genome.wustl.edu 37 1 168169139 168169139 + Splice_Site SNP A A G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 1 168169139 168169139 A G SNP TIPRL ENST00000367833 human ensembl 74_37 +1 known splice_site c.676-2 e7-2 0.997 - - - no_errors TIPRL HGNC ENSG00000143155 143 0 0 66 5 7.04225 RABGAP1L 0 genome.wustl.edu 37 1 174606593 174606593 + Silent SNP A A T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 1 174606593 174606593 A T SNP RABGAP1L ENST00000251507 human ensembl 74_37 +1 known silent c.1791 p.G597 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1L HGNC ENSG00000152061 161 0 0 100 7 6.54206 CEP350 0 genome.wustl.edu 37 1 179989418 179989418 + Missense_Mutation SNP A A C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 1 179989418 179989418 A C SNP CEP350 ENST00000367607 human ensembl 74_37 +1 known missense c.2509 p.S837R 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 280 0 0 225 17 7.02479 ASPM 0 genome.wustl.edu 37 1 197112225 197112225 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 1 197112225 197112225 G A SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.1157 p.S386L 0.001 NULL pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 192 0 0 77 9 10.4651 HSPG2 0 genome.wustl.edu 37 1 22211060 22211060 + Missense_Mutation SNP G G T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 1 22211060 22211060 G T SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.1615 p.Q539K 1.000 NULL 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 152 0 0 111 6 5.12821 S100PBP 0 genome.wustl.edu 37 1 33291908 33291908 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 1 33291908 33291908 G A SNP S100PBP ENST00000373475 human ensembl 74_37 +1 known missense c.208 p.E70K 0.007 NULL NULL - no_errors S100PBP HGNC ENSG00000116497 180 0 0 99 8 7.47664 MAP7D1 0 genome.wustl.edu 37 1 36645160 36645160 + Splice_Site SNP T T C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 1 36645160 36645160 T C SNP MAP7D1 ENST00000373151 human ensembl 74_37 +1 known splice_site c.2230+2 e14+2 0.992 - - - no_errors MAP7D1 HGNC ENSG00000116871 8 0 0 3 2 40 STK40 0 genome.wustl.edu 37 1 36807526 36807526 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 1 36807526 36807526 G A SNP STK40 ENST00000373130 human ensembl 74_37 -1 known missense c.1153 p.R385C 1.000 NULL 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 STK40 HGNC ENSG00000196182 39 0 0 21 4 16 GLIS1 0 genome.wustl.edu 37 1 54059815 54059815 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 1 54059815 54059815 C T SNP GLIS1 ENST00000312233 human ensembl 74_37 -1 known missense c.761 p.R254Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS1 HGNC ENSG00000174332 41 0 0 28 3 9.67742 DIRAS3 0 genome.wustl.edu 37 1 68512693 68512693 + Silent SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 1 68512693 68512693 G A SNP DIRAS3 ENST00000370981 human ensembl 74_37 -1 known silent c.288 p.D96 0.910 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors DIRAS3 HGNC ENSG00000162595 261 0 0 166 16 8.79121 ELTD1 0 genome.wustl.edu 37 1 79386012 79386012 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 1 79386012 79386012 C T SNP ELTD1 ENST00000370742 human ensembl 74_37 -1 known silent c.1317 p.L439 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 153 0 0 73 18 19.7802 HPS1 0 genome.wustl.edu 37 10 100183378 100183378 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 10 100183378 100183378 C T SNP HPS1 ENST00000325103 human ensembl 74_37 -1 known missense c.1580 p.R527K 1.000 NULL NULL - no_errors HPS1 HGNC ENSG00000107521 237 0 0 153 42 21.5385 ABLIM1 0 genome.wustl.edu 37 10 116361626 116361626 + Silent SNP G G C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 10 116361626 116361626 G C SNP ABLIM1 ENST00000277895 human ensembl 74_37 -1 known silent c.339 p.V113 0.720 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM1 HGNC ENSG00000099204 142 0 0 85 6 6.59341 KNDC1 0 genome.wustl.edu 37 10 135015105 135015105 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 10 135015105 135015105 C T SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known silent c.3096 p.F1032 0.006 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 75 0 0 53 27 33.75 ERCC6 0 genome.wustl.edu 37 10 50732318 50732318 + Silent SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 10 50732318 50732318 G A SNP ERCC6 ENST00000355832 human ensembl 74_37 -1 known silent c.1158 p.D386 0.943 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 53 0 0 40 4 9.09091 A1CF 0 genome.wustl.edu 37 10 52603780 52603780 + Missense_Mutation SNP A A C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 10 52603780 52603780 A C SNP A1CF ENST00000282641 human ensembl 74_37 -1 known missense c.202 p.F68V 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors A1CF HGNC ENSG00000148584 247 0 0 112 8 6.66667 CALML5 0 genome.wustl.edu 37 10 5541179 5541179 + Missense_Mutation SNP T T C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 10 5541179 5541179 T C SNP CALML5 ENST00000380332 human ensembl 74_37 -1 known missense c.223 p.K75E 0.001 pfam_EF_hand_dom,smart_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALML5 HGNC ENSG00000178372 47 0 0 57 4 6.55738 RUFY2 0 genome.wustl.edu 37 10 70143864 70143864 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 10 70143864 70143864 G A SNP RUFY2 ENST00000388768 human ensembl 74_37 -1 known missense c.871 p.H291Y 1.000 NULL pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors RUFY2 HGNC ENSG00000204130 111 0 0 28 7 20 ITIH2 0 genome.wustl.edu 37 10 7759715 7759715 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 10 7759715 7759715 C T SNP ITIH2 ENST00000358415 human ensembl 74_37 +1 known silent c.594 p.I198 0.052 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH2 HGNC ENSG00000151655 253 0 0 124 28 18.4211 BLNK 0 genome.wustl.edu 37 10 97983645 97983645 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 10 97983645 97983645 C T SNP BLNK ENST00000224337 human ensembl 74_37 -1 known silent c.462 p.P154 0.000 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors BLNK HGNC ENSG00000095585 199 0 0 78 14 15.2174 DDI1 0 genome.wustl.edu 37 11 103907617 103907617 + Missense_Mutation SNP C C A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 11 103907617 103907617 C A SNP DDI1 ENST00000302259 human ensembl 74_37 +1 known missense c.67 p.P23T 1.000 pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Peptidase_aspartic_DDI1-type,pfam_Ubiquitin_dom,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors DDI1 HGNC ENSG00000170967 198 1 0.502513 111 16 12.5984 LAYN 0 genome.wustl.edu 37 11 111414845 111414845 + Missense_Mutation SNP G G T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 11 111414845 111414845 G T SNP LAYN ENST00000375615 human ensembl 74_37 +1 known missense c.307 p.D103Y 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors LAYN HGNC ENSG00000204381 70 0 0 29 5 14.7059 MICAL2 0 genome.wustl.edu 37 11 12241844 12241844 + Missense_Mutation SNP T T A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 11 12241844 12241844 T A SNP MICAL2 ENST00000256194 human ensembl 74_37 +1 known missense c.1045 p.Y349N 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 116 0 0 65 14 17.7215 SPTY2D1 0 genome.wustl.edu 37 11 18636652 18636652 + Missense_Mutation SNP G G T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 11 18636652 18636652 G T SNP SPTY2D1 ENST00000336349 human ensembl 74_37 -1 known missense c.1169 p.T390K 0.000 NULL pfam_Chromatin_SPT2,smart_Chromatin_SPT2 - no_errors SPTY2D1 HGNC ENSG00000179119 170 0 0 70 34 32.6923 LIN7C 0 genome.wustl.edu 37 11 27520261 27520261 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 11 27520261 27520261 C T SNP LIN7C ENST00000278193 human ensembl 74_37 -1 known missense c.529 p.V177I 1.000 superfamily_PDZ,pirsf_Lin-7_homologue pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ - no_errors LIN7C HGNC ENSG00000148943 307 0 0 99 17 14.6552 KIF18A 0 genome.wustl.edu 37 11 28090850 28090850 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 11 28090850 28090850 C T SNP KIF18A ENST00000263181 human ensembl 74_37 -1 known missense c.1546 p.E516K 0.040 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18A HGNC ENSG00000121621 138 0 0 50 4 7.40741 ART1 0 genome.wustl.edu 37 11 3681342 3681342 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 11 3681342 3681342 G A SNP ART1 ENST00000250693 human ensembl 74_37 +1 known missense c.593 p.G198E 0.996 pfam_ART,prints_ART pfam_ART,prints_ART - no_errors ART1 HGNC ENSG00000129744 28 0 0 24 6 20 OR51M1 0 genome.wustl.edu 37 11 5410661 5410661 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 11 5410661 5410661 C T SNP OR51M1 ENST00000328611 human ensembl 74_37 +1 known silent c.33 p.F11 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51M1 HGNC ENSG00000184698 329 1 0.30303 114 17 12.9771 DDB1 0 genome.wustl.edu 37 11 61071504 61071504 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 11 61071504 61071504 G A SNP DDB1 ENST00000301764 human ensembl 74_37 -1 known missense c.2665 p.R889W 1.000 pfam_Cleavage/polyA-sp_fac_asu_C pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 97 0 0 34 32 48.4848 CST6 0 genome.wustl.edu 37 11 65780867 65780867 + Missense_Mutation SNP T T A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 11 65780867 65780867 T A SNP CST6 ENST00000312134 human ensembl 74_37 +1 known missense c.446 p.M149K 0.000 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST6 HGNC ENSG00000175315 145 0 0 65 14 17.7215 SYT12 0 genome.wustl.edu 37 11 66807437 66807437 + Silent SNP C C G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 11 66807437 66807437 C G SNP SYT12 ENST00000393946 human ensembl 74_37 +1 known silent c.384 p.L128 0.900 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT12 HGNC ENSG00000173227 88 0 0 61 4 6.15385 CPT1A 0 genome.wustl.edu 37 11 68566686 68566686 + Silent SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 11 68566686 68566686 G A SNP CPT1A ENST00000265641 human ensembl 74_37 -1 known silent c.693 p.Y231 0.427 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1A HGNC ENSG00000110090 133 0 0 52 6 10.3448 INTS4 0 genome.wustl.edu 37 11 77635908 77635908 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 11 77635908 77635908 G A SNP INTS4 ENST00000534064 human ensembl 74_37 -1 known missense c.1402 p.H468Y 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors INTS4 HGNC ENSG00000149262 95 0 0 57 5 8.06452 SELPLG 0 genome.wustl.edu 37 12 109017971 109017971 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 12 109017971 109017971 C T SNP SELPLG ENST00000550948 human ensembl 74_37 -1 known missense c.113 p.R38Q 0.006 NULL NULL - no_errors SELPLG HGNC ENSG00000110876 136 0 0 57 7 10.9375 WDR66 0 genome.wustl.edu 37 12 122398586 122398586 + Missense_Mutation SNP C C G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 12 122398586 122398586 C G SNP WDR66 ENST00000288912 human ensembl 74_37 +1 known missense c.2229 p.S743R 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 186 0 0 86 7 7.52688 CLIP1 0 genome.wustl.edu 37 12 122845543 122845543 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 12 122845543 122845543 G A SNP CLIP1 ENST00000540338 human ensembl 74_37 -1 known missense c.968 p.A323V 1.000 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain - no_errors CLIP1 HGNC ENSG00000130779 51 0 0 31 4 11.4286 EP400 0 genome.wustl.edu 37 12 132514347 132514347 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 12 132514347 132514347 G A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.5591 p.G1864D 0.820 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 51 0 0 46 6 11.5385 SLCO1C1 0 genome.wustl.edu 37 12 20903643 20903643 + Missense_Mutation SNP G G C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 12 20903643 20903643 G C SNP SLCO1C1 ENST00000381552 human ensembl 74_37 +1 known missense c.1833 p.L611F 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC ENSG00000139155 197 0 0 63 8 11.2676 ALG10B 0 genome.wustl.edu 37 12 38714150 38714150 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 12 38714150 38714150 G A SNP ALG10B ENST00000308742 human ensembl 74_37 +1 known missense c.557 p.R186Q 1.000 pfam_Alg10,pirsf_Alg10 pfam_Alg10,pirsf_Alg10 - no_errors ALG10B HGNC ENSG00000175548 422 0 0 146 37 20.2186 DNAJC22 0 genome.wustl.edu 37 12 49743129 49743129 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 12 49743129 49743129 C T SNP DNAJC22 ENST00000395069 human ensembl 74_37 +1 known silent c.474 p.A158 0.998 NULL pfam_DnaJ_domain,pfam_TM2,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC22 HGNC ENSG00000178401 140 0 0 96 16 14.2857 B4GALNT1 0 genome.wustl.edu 37 12 58024855 58024855 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 12 58024855 58024855 G A SNP B4GALNT1 ENST00000341156 human ensembl 74_37 -1 known missense c.398 p.A133V 1.000 pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT1 HGNC ENSG00000135454 122 0 0 75 18 19.3548 ATN1 0 genome.wustl.edu 37 12 7045885 7045885 + Silent SNP A A G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 12 7045885 7045885 A G SNP ATN1 ENST00000356654 human ensembl 74_37 +1 known silent c.1455 p.Q485 0.049 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 149 0 0 145 18 11.0429 ATN1 0 genome.wustl.edu 37 12 7045927 7045927 + Missense_Mutation SNP G G T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 12 7045927 7045927 G T SNP ATN1 ENST00000356654 human ensembl 74_37 +1 known missense c.1497 p.Q499H 0.137 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 61 0 0 125 7 5.30303 TRHDE 0 genome.wustl.edu 37 12 73056851 73056851 + Missense_Mutation SNP A A T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 12 73056851 73056851 A T SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known missense c.2951 p.N984I 0.014 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 144 0 0 38 5 11.6279 C1QTNF9 0 genome.wustl.edu 37 13 24895530 24895530 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 13 24895530 24895530 C T SNP C1QTNF9 ENST00000332018 human ensembl 74_37 +1 known missense c.626 p.T209M 0.876 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF9 HGNC ENSG00000240654 139 0 0 100 6 5.66038 FREM2 0 genome.wustl.edu 37 13 39266549 39266549 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 13 39266549 39266549 G A SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.5068 p.D1690N 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 172 0 0 99 16 13.913 THSD1 0 genome.wustl.edu 37 13 52952350 52952350 + Missense_Mutation SNP G G C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 13 52952350 52952350 G C SNP THSD1 ENST00000258613 human ensembl 74_37 -1 known missense c.1755 p.F585L 0.874 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC ENSG00000136114 195 0 0 120 32 21.0526 DIAPH3 0 genome.wustl.edu 37 13 60240797 60240797 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 13 60240797 60240797 G A SNP DIAPH3 ENST00000400324 human ensembl 74_37 -1 known missense c.3503 p.T1168M 0.542 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH3 HGNC ENSG00000139734 229 0 0 135 10 6.89655 LMO7 0 genome.wustl.edu 37 13 76374837 76374837 + Missense_Mutation SNP C C G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 13 76374837 76374837 C G SNP LMO7 ENST00000357063 human ensembl 74_37 +1 known missense c.636 p.S212R 0.688 superfamily_CH-domain pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 219 0 0 145 13 8.22785 EDNRB 0 genome.wustl.edu 37 13 78492651 78492651 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 13 78492651 78492651 C T SNP EDNRB ENST00000334286 human ensembl 74_37 -1 known missense c.58 p.G20S 0.323 prints_ETB_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 53 0 0 49 6 10.9091 RTL1 0 genome.wustl.edu 37 14 101349151 101349151 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 14 101349151 101349151 C T SNP RTL1 ENST00000534062 human ensembl 74_37 -1 known missense c.1975 p.G659R 0.991 NULL pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom - no_errors RTL1 HGNC ENSG00000254656 10 0 0 5 3 37.5 LRFN5 0 genome.wustl.edu 37 14 42356201 42356201 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 14 42356201 42356201 C T SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known missense c.373 p.L125F 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 213 0 0 64 8 11.1111 FAM161B 0 genome.wustl.edu 37 14 74411425 74411425 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 14 74411425 74411425 G A SNP FAM161B ENST00000286544 human ensembl 74_37 -1 known missense c.727 p.R243C 1.000 pfam_UPF0564 pfam_UPF0564 - no_errors FAM161B HGNC ENSG00000156050 41 0 0 35 4 10.2564 COQ6 0 genome.wustl.edu 37 14 74428508 74428508 + Missense_Mutation SNP A A G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 14 74428508 74428508 A G SNP COQ6 ENST00000334571 human ensembl 74_37 +1 known missense c.1279 p.T427A 0.991 tigrfam_UbQ_biosynth_mOase,tigrfam_Ubi_Hdrxlases pfam_mOase_FAD-bd,prints_Rng_hydrolase-like,tigrfam_UbQ_biosynth_mOase,tigrfam_Ubi_Hdrxlases - no_errors COQ6 HGNC ENSG00000119723 313 0 0 154 15 8.87574 TRIP11 0 genome.wustl.edu 37 14 92469890 92469890 + Missense_Mutation SNP G G C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 14 92469890 92469890 G C SNP TRIP11 ENST00000267622 human ensembl 74_37 -1 known missense c.4430 p.T1477R 0.997 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC ENSG00000100815 489 0 0 184 18 8.91089 SERPINA1 0 genome.wustl.edu 37 14 94847294 94847294 + Silent SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 14 94847294 94847294 G A SNP SERPINA1 ENST00000355814 human ensembl 74_37 -1 known silent c.831 p.F277 0.959 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA1 HGNC ENSG00000197249 161 0 0 83 5 5.68182 TRPM7 0 genome.wustl.edu 37 15 50868042 50868042 + RNA SNP A A C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 15 50868042 50868042 A C SNP TRPM7 ENST00000560849 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors TRPM7 HGNC ENSG00000092439 91 0 0 38 24 38.7097 CCPG1 0 genome.wustl.edu 37 15 55651934 55651934 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 15 55651934 55651934 C T SNP CCPG1 ENST00000310958 human ensembl 74_37 -1 known silent c.2037 p.Q679 0.001 NULL NULL - no_errors CCPG1 HGNC ENSG00000260916 147 0 0 47 15 24.1935 ZNF592 0 genome.wustl.edu 37 15 85326089 85326089 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 15 85326089 85326089 C T SNP ZNF592 ENST00000299927 human ensembl 74_37 +1 known silent c.183 p.P61 0.119 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF592 HGNC ENSG00000166716 133 0 0 245 48 16.3823 GTF3C1 0 genome.wustl.edu 37 16 27480772 27480772 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 16 27480772 27480772 C T SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known silent c.4914 p.A1638 0.077 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 44 0 0 32 8 20 SLC9A5 0 genome.wustl.edu 37 16 67293838 67293838 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 16 67293838 67293838 C T SNP SLC9A5 ENST00000299798 human ensembl 74_37 +1 known missense c.1831 p.P611S 1.000 prints_Na/H_exchanger_3/5,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A5 HGNC ENSG00000135740 30 0 0 19 6 24 CDH1 0 genome.wustl.edu 37 16 68853297 68853297 + Silent SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 16 68853297 68853297 G A SNP CDH1 ENST00000261769 human ensembl 74_37 +1 known silent c.1680 p.T560 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 90 0 0 34 4 10.5263 NQO1 0 genome.wustl.edu 37 16 69745175 69745175 + Missense_Mutation SNP G G C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 16 69745175 69745175 G C SNP NQO1 ENST00000320623 human ensembl 74_37 -1 known missense c.529 p.L177V 0.998 pfam_Flavodoxin_fold pfam_Flavodoxin_fold,pfam_FMN_Rdtase-like - no_errors NQO1 HGNC ENSG00000181019 260 0 0 120 20 14.2857 PDXDC2P 0 genome.wustl.edu 37 16 70012175 70012175 + RNA SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 16 70012175 70012175 G A SNP PDXDC2P ENST00000325845 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PDXDC2P HGNC ENSG00000196696 236 0 0 112 7 5.88235 COG4 0 genome.wustl.edu 37 16 70515668 70515668 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 16 70515668 70515668 C T SNP COG4 ENST00000323786 human ensembl 74_37 -1 known missense c.2105 p.R702Q 1.000 NULL pfam_COG_su4,smart_COG_su4 - no_errors COG4 HGNC ENSG00000103051 34 0 0 15 3 16.6667 HPR 0 genome.wustl.edu 37 16 72110948 72110948 + Missense_Mutation SNP C C G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 16 72110948 72110948 C G SNP HPR ENST00000228226 human ensembl 74_37 +1 known missense c.1126 p.H376D 0.984 pirsf_Haptoglobin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Haptoglobin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors HPR HGNC ENSG00000261701 128 0 0 57 5 8.06452 ANKRD11 0 genome.wustl.edu 37 16 89350371 89350371 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 16 89350371 89350371 G A SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.2579 p.S860L 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 116 0 0 54 8 12.9032 RPA1 0 genome.wustl.edu 37 17 1782886 1782886 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 17 1782886 1782886 G A SNP RPA1 ENST00000254719 human ensembl 74_37 +1 known missense c.985 p.A329T 0.999 superfamily_NA-bd_OB-fold,tigrfam_Rep_factor_Rpa1 pfam_Rep_factor-A_C,pfam_Rep_factor-A_N,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,tigrfam_Rep_factor_Rpa1 - no_errors RPA1 HGNC ENSG00000132383 211 0 0 94 36 27.6923 GIT1 0 genome.wustl.edu 37 17 27910586 27910586 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 17 27910586 27910586 C T SNP GIT1 ENST00000394869 human ensembl 74_37 -1 known missense c.101 p.C34Y 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors GIT1 HGNC ENSG00000108262 21 0 0 16 2 11.1111 CCL5 0 genome.wustl.edu 37 17 34199417 34199417 + Missense_Mutation SNP C C G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 17 34199417 34199417 C G SNP CCL5 ENST00000293272 human ensembl 74_37 -1 known missense c.240 p.W80C 1.000 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL5 HGNC ENSG00000161570 211 0 0 106 12 10.1695 KRTAP4-11 0 genome.wustl.edu 37 17 39274206 39274206 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 17 39274206 39274206 C T SNP KRTAP4-11 ENST00000391413 human ensembl 74_37 -1 known missense c.362 p.R121K 0.000 NULL pfam_Keratin-assoc - no_errors KRTAP4-11 HGNC ENSG00000212721 17 0 0 57 7 10.9375 ACLY 0 genome.wustl.edu 37 17 40049326 40049326 + Nonsense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 17 40049326 40049326 G A SNP ACLY ENST00000352035 human ensembl 74_37 -1 known nonsense c.1561 p.R521* 1.000 pfam_CoA-bd,smart_CoA-bd,pirsf_ATP-citrate_synthase pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase - no_errors ACLY HGNC ENSG00000131473 102 0 0 87 26 23.0088 DHX58 0 genome.wustl.edu 37 17 40261296 40261296 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 17 40261296 40261296 G A SNP DHX58 ENST00000251642 human ensembl 74_37 -1 known missense c.670 p.R224C 0.884 superfamily_P-loop_NTPase pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX58 HGNC ENSG00000108771 31 0 0 31 5 13.8889 RUNDC1 0 genome.wustl.edu 37 17 41141403 41141403 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 17 41141403 41141403 G A SNP RUNDC1 ENST00000361677 human ensembl 74_37 +1 known missense c.703 p.E235K 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC1 HGNC ENSG00000198863 73 0 0 55 10 15.3846 GFAP 0 genome.wustl.edu 37 17 42987519 42987519 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 17 42987519 42987519 C T SNP GFAP ENST00000435360 human ensembl 74_37 -1 known silent c.1281 p.P427 0.874 NULL pfam_IF - no_errors GFAP HGNC ENSG00000131095 115 0 0 77 12 13.4831 TP53 0 genome.wustl.edu 37 17 7578526 7578526 + Missense_Mutation SNP C C A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 17 7578526 7578526 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.404 p.C135F 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 43 0 0 14 15 51.7241 DNAH17 0 genome.wustl.edu 37 17 76471408 76471408 + Silent SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 17 76471408 76471408 G A SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known silent c.8421 p.D2807 0.514 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 125 0 0 88 30 25.4237 KDM6B 0 genome.wustl.edu 37 17 7748912 7748912 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 17 7748912 7748912 C T SNP KDM6B ENST00000254846 human ensembl 74_37 +1 known missense c.40 p.R14W 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 154 0 0 73 11 13.0952 NPC1 0 genome.wustl.edu 37 18 21124448 21124448 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 18 21124448 21124448 C T SNP NPC1 ENST00000269228 human ensembl 74_37 -1 known missense c.1990 p.V664M 1.000 pfam_Patched,pfam_MMPL_dom,pfscan_SSD,tigrfam_NP_C_type pfam_Patched,pfam_MMPL_dom,pfscan_SSD,tigrfam_NP_C_type - no_errors NPC1 HGNC ENSG00000141458 76 0 0 57 9 13.6364 ZNF521 0 genome.wustl.edu 37 18 22805849 22805849 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 18 22805849 22805849 G A SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.2033 p.S678F 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 422 0 0 246 26 9.55882 ZSCAN30 0 genome.wustl.edu 37 18 32834016 32834016 + Missense_Mutation SNP C C G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 18 32834016 32834016 C G SNP ZSCAN30 ENST00000333206 human ensembl 74_37 -1 known missense c.883 p.D295H 0.623 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN30 HGNC ENSG00000186814 198 0 0 256 17 6.22711 PTPRM 0 genome.wustl.edu 37 18 7567872 7567872 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 18 7567872 7567872 C T SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.56 p.A19V 0.001 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 21 0 0 19 48 71.6418 PTPRM 0 genome.wustl.edu 37 18 8069752 8069752 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 18 8069752 8069752 G A SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.1201 p.E401K 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 86 0 0 75 5 6.25 MEF2BNB-MEF2B 0 genome.wustl.edu 37 19 19261546 19261546 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 19 19261546 19261546 G A SNP MEF2BNB-MEF2B ENST00000514819 human ensembl 74_37 -1 putative missense c.50 p.T17M 0.017 NULL pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2BNB-MEF2B HGNC ENSG00000064489 113 0 0 43 5 10.4167 ZNF208 0 genome.wustl.edu 37 19 22156661 22156661 + Missense_Mutation SNP G G T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 19 22156661 22156661 G T SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.1175 p.T392N 0.997 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 ZNF208 HGNC ENSG00000160321 140 0 0 80 10 11.1111 GRIK5 0 genome.wustl.edu 37 19 42558546 42558546 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 19 42558546 42558546 C T SNP GRIK5 ENST00000301218 human ensembl 74_37 -1 known missense c.982 p.G328S 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 GRIK5 HGNC ENSG00000105737 88 0 0 49 7 12.5 PLIN4 0 genome.wustl.edu 37 19 4511992 4511992 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 19 4511992 4511992 C T SNP PLIN4 ENST00000301286 human ensembl 74_37 -1 novel silent c.1938 p.A646 0.000 NULL pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 215 2 0.921659 84 12 12.5 CCDC61 0 genome.wustl.edu 37 19 46498688 46498688 + Missense_Mutation SNP A A G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 19 46498688 46498688 A G SNP CCDC61 ENST00000263284 human ensembl 74_37 +1 known missense c.86 p.E29G 0.191 NULL NULL - no_errors CCDC61 HGNC ENSG00000104983 13 0 0 7 3 30 TPM3P9 0 genome.wustl.edu 37 19 53945909 53945909 + RNA SNP T T C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 19 53945909 53945909 T C SNP TPM3P9 ENST00000424846 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TPM3P9 HGNC ENSG00000241015 59 0 0 18 6 25 CHMP2A 0 genome.wustl.edu 37 19 59065483 59065483 + Nonsense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 19 59065483 59065483 G A SNP CHMP2A ENST00000312547 human ensembl 74_37 -1 known nonsense c.97 p.R33* 1.000 pfam_Snf7 pfam_Snf7 - no_errors CHMP2A HGNC ENSG00000130724 199 0 0 103 10 8.84956 C3 0 genome.wustl.edu 37 19 6712411 6712411 + Missense_Mutation SNP C C G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 19 6712411 6712411 C G SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.1126 p.V376L 1.000 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 71 0 0 34 22 39.2857 VAV1 0 genome.wustl.edu 37 19 6833745 6833745 + Splice_Site SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 19 6833745 6833745 G A SNP VAV1 ENST00000602142 human ensembl 74_37 +1 known splice_site c.1731+1 e18+1 1.000 - - - no_errors VAV1 HGNC ENSG00000141968 180 0 0 74 31 29.5238 LONRF2 0 genome.wustl.edu 37 2 100912008 100912008 + Missense_Mutation SNP G G T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 2 100912008 100912008 G T SNP LONRF2 ENST00000393437 human ensembl 74_37 -1 known missense c.1484 p.A495E 1.000 NULL pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF2 HGNC ENSG00000170500 132 0 0 80 21 20.7921 PLGLA 0 genome.wustl.edu 37 2 107004048 107004048 + RNA SNP T T C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 2 107004048 107004048 T C SNP PLGLA ENST00000482249 human ensembl 74_37 +1 known rna NULL NULL 0.253 - - - no_errors PLGLA HGNC ENSG00000240935 341 0 0 189 24 11.2676 DPP10 0 genome.wustl.edu 37 2 116538567 116538567 + Silent SNP T T C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 2 116538567 116538567 T C SNP DPP10 ENST00000393147 human ensembl 74_37 +1 known silent c.1491 p.C497 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 176 0 0 55 28 33.7349 KCNJ3 0 genome.wustl.edu 37 2 155566118 155566118 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 2 155566118 155566118 C T SNP KCNJ3 ENST00000295101 human ensembl 74_37 +1 known missense c.706 p.R236W 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.1,prints_K_chnl_inward-rec_Kir - no_errors KCNJ3 HGNC ENSG00000162989 119 0 0 53 9 14.5161 SCN1A 0 genome.wustl.edu 37 2 166847826 166847826 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 2 166847826 166847826 C T SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.5959 p.D1987N 0.999 prints_Na_channel_a1su pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 145 0 0 47 8 14.5455 XIRP2 0 genome.wustl.edu 37 2 168100087 168100087 + Missense_Mutation SNP G G T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 2 168100087 168100087 G T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.2185 p.V729F 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 134 0 0 56 10 15.1515 TTN 0 genome.wustl.edu 37 2 179482993 179482993 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 2 179482993 179482993 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.39488 p.R13163H 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 296 0 0 114 23 16.7883 ADAM23 0 genome.wustl.edu 37 2 207429756 207429756 + Missense_Mutation SNP C C A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 2 207429756 207429756 C A SNP ADAM23 ENST00000264377 human ensembl 74_37 +1 known missense c.1358 p.T453K 0.995 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM23 HGNC ENSG00000114948 184 0 0 58 12 17.1429 D2HGDH 0 genome.wustl.edu 37 2 242690675 242690675 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 2 242690675 242690675 G A SNP D2HGDH ENST00000321264 human ensembl 74_37 +1 known missense c.1012 p.V338I 0.997 pfam_FAD-linked_oxidase_C,superfamily_FAD-linked_Oxase-like_C pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C - no_errors D2HGDH HGNC ENSG00000180902 58 0 0 33 5 13.1579 PPM1B 0 genome.wustl.edu 37 2 44428441 44428441 + Missense_Mutation SNP G G C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 2 44428441 44428441 G C SNP PPM1B ENST00000282412 human ensembl 74_37 +1 known missense c.103 p.E35Q 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,pfam_PP2C_C,superfamily_PP2C-like_dom,superfamily_PP2C_C,smart_PP2C-like_dom - no_errors PPM1B HGNC ENSG00000138032 383 0 0 212 17 7.42358 PROM2 0 genome.wustl.edu 37 2 95952270 95952270 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 2 95952270 95952270 G A SNP PROM2 ENST00000317620 human ensembl 74_37 +1 known missense c.1991 p.G664E 0.000 pfam_Prominin pfam_Prominin - no_errors PROM2 HGNC ENSG00000155066 68 0 0 41 4 8.88889 TGM6 0 genome.wustl.edu 37 20 2384268 2384268 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 20 2384268 2384268 G A SNP TGM6 ENST00000202625 human ensembl 74_37 +1 known missense c.1135 p.E379K 0.143 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM6 HGNC ENSG00000166948 133 0 0 99 6 5.71429 COMMD7 0 genome.wustl.edu 37 20 31291840 31291840 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 20 31291840 31291840 C T SNP COMMD7 ENST00000278980 human ensembl 74_37 -1 known missense c.511 p.E171K 1.000 pfam_HCaRG pfam_HCaRG - no_errors COMMD7 HGNC ENSG00000149600 120 0 0 56 4 6.66667 DLGAP4 0 genome.wustl.edu 37 20 35060202 35060202 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 20 35060202 35060202 G A SNP DLGAP4 ENST00000339266 human ensembl 74_37 +1 known missense c.82 p.D28N 0.996 NULL pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 58 0 0 58 8 12.1212 SALL4 0 genome.wustl.edu 37 20 50407885 50407885 + Silent SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 20 50407885 50407885 G A SNP SALL4 ENST00000217086 human ensembl 74_37 -1 known silent c.1137 p.L379 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 93 0 0 110 7 5.98291 SPO11 0 genome.wustl.edu 37 20 55918512 55918512 + Missense_Mutation SNP T T C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 20 55918512 55918512 T C SNP SPO11 ENST00000371263 human ensembl 74_37 +1 known missense c.1187 p.I396T 1.000 superfamily_Spo11/TopoVI_A,prints_Meiotic_Spo11 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 248 0 0 115 8 6.50407 GNAS 0 genome.wustl.edu 37 20 57430185 57430185 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 20 57430185 57430185 G A SNP GNAS ENST00000371100 human ensembl 74_37 +1 putative missense c.1865 p.R622Q 0.065 NULL pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 24 0 0 29 4 12.1212 LAMA5 0 genome.wustl.edu 37 20 60907448 60907448 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 20 60907448 60907448 C T SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.3532 p.E1178K 0.056 NULL pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 83 0 0 67 14 17.284 HELZ2 0 genome.wustl.edu 37 20 62194514 62194514 + Silent SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 20 62194514 62194514 G A SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known silent c.5661 p.L1887 0.154 NULL superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 11 0 0 10 2 16.6667 ABHD16B 0 genome.wustl.edu 37 20 62493340 62493340 + Missense_Mutation SNP C C G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 20 62493340 62493340 C G SNP ABHD16B ENST00000369916 human ensembl 74_37 +1 known missense c.447 p.D149E 0.937 NULL pfam_AB_hydrolase_1 - no_errors ABHD16B HGNC ENSG00000183260 23 0 0 26 6 18.75 TPTE 0 genome.wustl.edu 37 21 10970031 10970031 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 21 10970031 10970031 C T SNP TPTE ENST00000361285 human ensembl 74_37 -1 known missense c.97 p.E33K 0.000 NULL pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 328 1 0.303951 93 13 12.2642 RUNX1 0 genome.wustl.edu 37 21 36171641 36171641 + Silent SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 21 36171641 36171641 G A SNP RUNX1 ENST00000300305 human ensembl 74_37 -1 known silent c.924 p.S308 0.851 pirsf_TF_Runt-rel_RUNX pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX1 HGNC ENSG00000159216 150 0 0 108 10 8.47458 DSCAM 0 genome.wustl.edu 37 21 41710048 41710048 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 21 41710048 41710048 C T SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.1763 p.S588N 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 286 0 0 117 12 9.30233 C22orf31 0 genome.wustl.edu 37 22 29456681 29456681 + Missense_Mutation SNP T T C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 22 29456681 29456681 T C SNP C22orf31 ENST00000216071 human ensembl 74_37 -1 known missense c.154 p.N52D 0.000 NULL NULL - no_errors C22orf31 HGNC ENSG00000100249 199 0 0 65 57 46.7213 SSTR3 0 genome.wustl.edu 37 22 37602944 37602944 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 22 37602944 37602944 G A SNP SSTR3 ENST00000328544 human ensembl 74_37 -1 known missense c.899 p.A300V 0.997 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_3,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Somatstn_rcpt_5,prints_Neuropept_B/W_rcpt - no_errors SSTR3 HGNC ENSG00000183473 88 0 0 30 35 53.8462 TCF20 0 genome.wustl.edu 37 22 42610379 42610379 + Missense_Mutation SNP C C A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 22 42610379 42610379 C A SNP TCF20 ENST00000359486 human ensembl 74_37 -1 known missense c.933 p.Q311H 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 149 0 0 88 5 5.37634 EPHB1 0 genome.wustl.edu 37 3 134851754 134851754 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 3 134851754 134851754 C T SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.1160 p.T387M 0.999 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 38 0 0 33 5 13.1579 NLGN1 0 genome.wustl.edu 37 3 173322864 173322864 + Missense_Mutation SNP A A G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 3 173322864 173322864 A G SNP NLGN1 ENST00000401917 human ensembl 74_37 +1 known missense c.476 p.Y159C 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 233 0 0 100 12 10.7143 PIK3CA 0 genome.wustl.edu 37 3 178937410 178937410 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 3 178937410 178937410 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1798 p.E600K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 99 0 0 44 5 10.2041 OXSM 0 genome.wustl.edu 37 3 25833434 25833434 + Nonsense_Mutation SNP C C G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 3 25833434 25833434 C G SNP OXSM ENST00000280701 human ensembl 74_37 +1 known nonsense c.923 p.S308* 1.000 pfam_Ketoacyl_synth_C,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2 pfam_Ketoacyl_synth_N,pfam_Ketoacyl_synth_C,pfam_Thiolase_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2 - no_errors OXSM HGNC ENSG00000151093 179 0 0 91 5 5.20833 ITGA9 0 genome.wustl.edu 37 3 37845379 37845379 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 3 37845379 37845379 C T SNP ITGA9 ENST00000264741 human ensembl 74_37 +1 known silent c.2955 p.I985 0.955 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA9 HGNC ENSG00000144668 121 0 0 69 5 6.75676 CCDC13 0 genome.wustl.edu 37 3 42788762 42788762 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 3 42788762 42788762 C T SNP CCDC13 ENST00000310232 human ensembl 74_37 -1 known missense c.707 p.R236Q 0.986 NULL superfamily_Prefoldin - no_errors CCDC13 HGNC ENSG00000244607 113 0 0 56 9 13.8462 KLHL18 0 genome.wustl.edu 37 3 47378200 47378200 + Silent SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 3 47378200 47378200 G A SNP KLHL18 ENST00000232766 human ensembl 74_37 +1 known silent c.1074 p.P358 0.016 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL18 HGNC ENSG00000114648 75 0 0 48 11 18.6441 FAM208A 0 genome.wustl.edu 37 3 56657367 56657367 + Missense_Mutation SNP T T C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 3 56657367 56657367 T C SNP FAM208A ENST00000355628 human ensembl 74_37 -1 known missense c.4528 p.R1510G 0.006 NULL pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 151 0 0 63 5 7.35294 IL17RD 0 genome.wustl.edu 37 3 57131679 57131679 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 3 57131679 57131679 C T SNP IL17RD ENST00000296318 human ensembl 74_37 -1 known silent c.2052 p.T684 0.000 NULL pfam_SEFIR,superfamily_TIR_dom - no_errors IL17RD HGNC ENSG00000144730 11 0 0 5 2 28.5714 PROS1 0 genome.wustl.edu 37 3 93646135 93646135 + Missense_Mutation SNP T T C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 3 93646135 93646135 T C SNP PROS1 ENST00000394236 human ensembl 74_37 -1 known missense c.193 p.K65E 1.000 pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors PROS1 HGNC ENSG00000184500 194 0 0 66 32 32.6531 SPON2 0 genome.wustl.edu 37 4 1165840 1165840 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 4 1165840 1165840 G A SNP SPON2 ENST00000290902 human ensembl 74_37 -1 known missense c.20 p.A7V 0.001 NULL pfam_Spondin_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Spondin_N,pfscan_Thrombospondin_1_rpt - no_errors SPON2 HGNC ENSG00000159674 20 0 0 24 6 20 METTL14 0 genome.wustl.edu 37 4 119618350 119618350 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 4 119618350 119618350 G A SNP METTL14 ENST00000388822 human ensembl 74_37 +1 known missense c.517 p.D173N 1.000 pfscan_MT-A70-like pfam_MT-A70-like,pfscan_MT-A70-like - no_errors METTL14 HGNC ENSG00000145388 123 0 0 41 8 16.3265 FAM53A 0 genome.wustl.edu 37 4 1656730 1656730 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 4 1656730 1656730 G A SNP FAM53A ENST00000308132 human ensembl 74_37 -1 known missense c.857 p.S286F 0.302 NULL NULL - no_errors FAM53A HGNC ENSG00000174137 56 0 0 47 5 9.61538 MFAP3L 0 genome.wustl.edu 37 4 170913336 170913336 + Silent SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 4 170913336 170913336 G A SNP MFAP3L ENST00000361618 human ensembl 74_37 -1 known silent c.423 p.R141 0.771 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MFAP3L HGNC ENSG00000198948 191 0 0 95 15 13.6364 LAP3 0 genome.wustl.edu 37 4 17609194 17609194 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 4 17609194 17609194 C T SNP LAP3 ENST00000226299 human ensembl 74_37 +1 known silent c.1542 p.F514 0.972 NULL pfam_Peptidase_M17_C,pfam_Peptidase_M17_N,prints_Leucine_aapep/pepB - no_errors LAP3 HGNC ENSG00000002549 137 0 0 70 12 14.6341 NCAPG 0 genome.wustl.edu 37 4 17814759 17814759 + Missense_Mutation SNP G G C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 4 17814759 17814759 G C SNP NCAPG ENST00000251496 human ensembl 74_37 +1 known missense c.535 p.V179L 0.996 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NCAPG HGNC ENSG00000109805 99 0 0 69 13 15.8537 TENM3 0 genome.wustl.edu 37 4 183696162 183696162 + Silent SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 4 183696162 183696162 G A SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known silent c.5160 p.P1720 0.004 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 48 0 0 20 11 35.4839 PCDH7 0 genome.wustl.edu 37 4 31144151 31144151 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 4 31144151 31144151 G A SNP PCDH7 ENST00000543491 human ensembl 74_37 +1 known missense c.3448 p.E1150K 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 224 0 0 120 13 9.77444 ARAP2 0 genome.wustl.edu 37 4 36069743 36069743 + Missense_Mutation SNP T T G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 4 36069743 36069743 T G SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known missense c.4901 p.N1634T 1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 273 0 0 101 20 16.5289 EPHA5 0 genome.wustl.edu 37 4 66467877 66467877 + Missense_Mutation SNP T T G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 4 66467877 66467877 T G SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known missense c.392 p.K131T 1.000 pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 248 0 0 103 10 8.84956 BMP2K 0 genome.wustl.edu 37 4 79793071 79793071 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 4 79793071 79793071 C T SNP BMP2K ENST00000335016 human ensembl 74_37 +1 known missense c.1577 p.P526L 0.769 NULL 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 BMP2K HGNC ENSG00000138756 166 0 0 56 8 12.5 UNC5C 0 genome.wustl.edu 37 4 96127903 96127903 + Missense_Mutation SNP C C A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 4 96127903 96127903 C A SNP UNC5C ENST00000453304 human ensembl 74_37 -1 known missense c.1778 p.S593I 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5C HGNC ENSG00000182168 86 0 0 32 11 25.5814 SRFBP1 0 genome.wustl.edu 37 5 121356468 121356468 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 5 121356468 121356468 C T SNP SRFBP1 ENST00000339397 human ensembl 74_37 +1 known silent c.1038 p.H346 0.942 NULL pfam_Bud-site_select_BUD22 - no_errors SRFBP1 HGNC ENSG00000151304 64 0 0 35 6 14.6341 TERT 0 genome.wustl.edu 37 5 1264673 1264673 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 5 1264673 1264673 C T SNP TERT ENST00000310581 human ensembl 74_37 -1 known missense c.2689 p.V897M 0.000 pfam_RVT,pfscan_RVT pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT - no_errors TERT HGNC ENSG00000164362 73 0 0 86 69 44.5161 DNAH5 0 genome.wustl.edu 37 5 13754330 13754330 + Nonsense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 5 13754330 13754330 G A SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known nonsense c.10537 p.Q3513* 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 320 0 0 126 17 11.8881 PCDHB6 0 genome.wustl.edu 37 5 140530019 140530019 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 5 140530019 140530019 C T SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.181 p.R61W 0.922 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 194 0 0 125 10 7.40741 PCDHGA3 0 genome.wustl.edu 37 5 140725213 140725213 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 5 140725213 140725213 G A SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known missense c.1613 p.G538E 0.994 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 163 1 0.609756 124 24 16.2162 PCDHGA6 0 genome.wustl.edu 37 5 140755983 140755983 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 5 140755983 140755983 C T SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known missense c.2333 p.T778M 0.497 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC ENSG00000253731 82 0 0 87 15 14.7059 CSF1R 0 genome.wustl.edu 37 5 149447874 149447874 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 5 149447874 149447874 C T SNP CSF1R ENST00000286301 human ensembl 74_37 -1 known silent c.1530 p.P510 0.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors CSF1R HGNC ENSG00000182578 83 0 0 47 4 7.84314 KIAA0947 0 genome.wustl.edu 37 5 5461956 5461956 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 5 5461956 5461956 C T SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.2509 p.L837F 0.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 97 0 0 73 6 7.59494 CCNH 0 genome.wustl.edu 37 5 86700776 86700776 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 5 86700776 86700776 C T SNP CCNH ENST00000256897 human ensembl 74_37 -1 known missense c.574 p.D192N 1.000 superfamily_Cyclin-like,pirsf_CyclinC,tigrfam_CyclinH/Ccl1 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_CyclinC,tigrfam_CyclinH/Ccl1 - no_errors CCNH HGNC ENSG00000134480 162 0 0 50 9 15.2542 CD164 0 genome.wustl.edu 37 6 109691643 109691643 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 6 109691643 109691643 G A SNP CD164 ENST00000310786 human ensembl 74_37 -1 known missense c.398 p.S133F 0.561 pfam_CD164_MGC24 pfam_CD164_MGC24,prints_CD164_MGC24 - no_errors CD164 HGNC ENSG00000135535 86 0 0 50 4 7.40741 SYNE1 0 genome.wustl.edu 37 6 152563502 152563502 + Missense_Mutation SNP C C G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 6 152563502 152563502 C G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.19766 p.S6589T 0.892 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom 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 215 0 0 94 5 5.05051 SYNE1 0 genome.wustl.edu 37 6 152642497 152642497 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 6 152642497 152642497 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.16112 p.R5371Q 0.998 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom 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 121 0 0 31 5 13.8889 TBP 0 genome.wustl.edu 37 6 170871100 170871100 + Silent SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 6 170871100 170871100 G A SNP TBP ENST00000230354 human ensembl 74_37 +1 known silent c.276 p.Q92 0.995 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 24 0 0 64 8 11.1111 DNAH8 0 genome.wustl.edu 37 6 38702323 38702323 + Silent SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 6 38702323 38702323 G A SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known silent c.33 p.P11 0.017 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 224 0 0 78 23 22.7723 PGC 0 genome.wustl.edu 37 6 41711094 41711094 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 6 41711094 41711094 G A SNP PGC ENST00000373025 human ensembl 74_37 -1 known missense c.362 p.S121F 1.000 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors PGC HGNC ENSG00000096088 134 0 0 41 43 51.1905 CDHR3 0 genome.wustl.edu 37 7 105658403 105658403 + Missense_Mutation SNP G G C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 7 105658403 105658403 G C SNP CDHR3 ENST00000317716 human ensembl 74_37 +1 known missense c.1538 p.W513S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR3 HGNC ENSG00000128536 42 0 0 17 5 22.7273 PIK3CG 0 genome.wustl.edu 37 7 106508257 106508257 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 7 106508257 106508257 C T SNP PIK3CG ENST00000359195 human ensembl 74_37 +1 known missense c.251 p.A84V 0.001 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 36 0 0 38 5 11.6279 IMPDH1 0 genome.wustl.edu 37 7 128038597 128038597 + Silent SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 7 128038597 128038597 G A SNP IMPDH1 ENST00000338791 human ensembl 74_37 -1 known silent c.945 p.N315 1.000 pfam_IMP_DH_GMPRt,smart_CBS_dom,tigrfam_IMP_DH pfam_IMP_DH_GMPRt,pfam_CBS_dom,pfam_2Npropane_dOase,pfam_FMN-dep_DH,smart_CBS_dom,tigrfam_IMP_DH - no_errors IMPDH1 HGNC ENSG00000106348 145 0 0 119 12 9.16031 C7orf49 0 genome.wustl.edu 37 7 134852517 134852517 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 7 134852517 134852517 C T SNP C7orf49 ENST00000393114 human ensembl 74_37 -1 known silent c.180 p.E60 0.059 NULL NULL - no_errors C7orf49 HGNC ENSG00000122783 97 0 0 50 10 16.6667 TAS2R4 0 genome.wustl.edu 37 7 141478883 141478883 + Missense_Mutation SNP C C A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 7 141478883 141478883 C A SNP TAS2R4 ENST00000247881 human ensembl 74_37 +1 known missense c.595 p.L199I 0.979 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R4 HGNC ENSG00000127364 381 0 0 177 25 12.3762 SHH 0 genome.wustl.edu 37 7 155596246 155596246 + Missense_Mutation SNP T T C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 7 155596246 155596246 T C SNP SHH ENST00000297261 human ensembl 74_37 -1 known missense c.737 p.D246G 0.998 pirsf_Hedgehog,pfam_Hint_dom,smart_Hint_dom_N,pfscan_Intein_splice_site pirsf_Hedgehog,pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,prints_Hedgehog,pfscan_Intein_splice_site - no_errors SHH HGNC ENSG00000164690 12 0 0 15 3 16.6667 PTPRN2 0 genome.wustl.edu 37 7 157874021 157874021 + Silent SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 7 157874021 157874021 G A SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known silent c.1761 p.N587 0.887 pfam_Receptor_IA-2 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 153 0 0 54 7 11.4754 HIBADH 0 genome.wustl.edu 37 7 27672037 27672037 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 7 27672037 27672037 C T SNP HIBADH ENST00000265395 human ensembl 74_37 -1 known missense c.280 p.E94K 1.000 pfam_6PGDH_NADP-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,tigrfam_IsoBut3OH_DH pfam_6PGDH_NADP-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,superfamily_6-PGluconate_DH_C-like,tigrfam_IsoBut3OH_DH - no_errors HIBADH HGNC ENSG00000106049 205 0 0 87 13 13 EEPD1 0 genome.wustl.edu 37 7 36194426 36194426 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 7 36194426 36194426 C T SNP EEPD1 ENST00000242108 human ensembl 74_37 +1 known missense c.493 p.R165C 1.000 pfam_GspK,superfamily_RuvA_2-like pfam_HhH_motif,pfam_Endo/exonuclease/phosphatase,pfam_GspK,superfamily_Endo/exonuclease/phosphatase,superfamily_RuvA_2-like,smart_Hlx-hairpin-Hlx_DNA-bd_motif,tigrfam_Competence_ComEA_HhH - no_errors EEPD1 HGNC ENSG00000122547 43 0 0 32 4 11.1111 TMEM248 0 genome.wustl.edu 37 7 66410149 66410149 + Missense_Mutation SNP A A G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 7 66410149 66410149 A G SNP TMEM248 ENST00000341567 human ensembl 74_37 +1 known missense c.346 p.I116V 1.000 NULL NULL - no_errors TMEM248 HGNC ENSG00000106609 109 0 0 83 12 12.6316 HGF 0 genome.wustl.edu 37 7 81372669 81372669 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 7 81372669 81372669 C T SNP HGF ENST00000222390 human ensembl 74_37 -1 known missense c.865 p.A289T 1.000 superfamily_Kringle-like,smart_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGF HGNC ENSG00000019991 126 1 0.787402 48 19 28.3582 C7orf62 0 genome.wustl.edu 37 7 88423644 88423644 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 7 88423644 88423644 G A SNP C7orf62 ENST00000297203 human ensembl 74_37 -1 known missense c.613 p.P205S 0.963 NULL NULL - no_errors C7orf62 HGNC ENSG00000164645 205 0 0 92 20 17.8571 KCNK9 0 genome.wustl.edu 37 8 140630698 140630698 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 8 140630698 140630698 G A SNP KCNK9 ENST00000303015 human ensembl 74_37 -1 known missense c.928 p.R310C 0.992 pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK9,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC ENSG00000169427 60 0 0 86 15 14.8515 RP1 0 genome.wustl.edu 37 8 55534700 55534700 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 8 55534700 55534700 C T SNP RP1 ENST00000220676 human ensembl 74_37 +1 known silent c.639 p.I213 0.985 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 82 0 0 55 13 19.1176 RP1 0 genome.wustl.edu 37 8 55539117 55539117 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 8 55539117 55539117 C T SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.2675 p.A892V 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 107 0 0 56 6 9.67742 CHD7 0 genome.wustl.edu 37 8 61765949 61765949 + Missense_Mutation SNP A A G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 8 61765949 61765949 A G SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known missense c.6665 p.E2222G 0.786 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 42 0 0 50 17 25.3731 DNAJC5B 0 genome.wustl.edu 37 8 66989024 66989024 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 8 66989024 66989024 C T SNP DNAJC5B ENST00000276570 human ensembl 74_37 +1 known silent c.249 p.Y83 0.989 superfamily_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC5B HGNC ENSG00000147570 204 1 0.487805 209 19 8.33333 TRIM55 0 genome.wustl.edu 37 8 67049353 67049353 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 8 67049353 67049353 C T SNP TRIM55 ENST00000315962 human ensembl 74_37 +1 known silent c.531 p.A177 0.391 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM55 HGNC ENSG00000147573 59 0 0 41 8 16.3265 TRPA1 0 genome.wustl.edu 37 8 72977723 72977723 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 8 72977723 72977723 G A SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.515 p.A172V 0.895 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 130 0 0 55 9 14.0625 ZFHX4 0 genome.wustl.edu 37 8 77765033 77765033 + Missense_Mutation SNP T T G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 8 77765033 77765033 T G SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.5876 p.L1959R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 136 0 0 65 5 7.14286 CA13 0 genome.wustl.edu 37 8 86171655 86171655 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 8 86171655 86171655 C T SNP CA13 ENST00000321764 human ensembl 74_37 +1 known missense c.241 p.R81C 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA13 HGNC ENSG00000185015 209 0 0 131 10 7.0922 OR13C4 0 genome.wustl.edu 37 9 107289090 107289090 + Missense_Mutation SNP A A G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 9 107289090 107289090 A G SNP OR13C4 ENST00000277216 human ensembl 74_37 -1 known missense c.401 p.I134T 0.085 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 OR13C4 HGNC ENSG00000148136 208 0 0 146 12 7.59494 OR13D1 0 genome.wustl.edu 37 9 107457263 107457263 + Silent SNP C C A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 9 107457263 107457263 C A SNP OR13D1 ENST00000318763 human ensembl 74_37 +1 known silent c.561 p.T187 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13D1 HGNC ENSG00000179055 244 1 0.408163 113 55 32.7381 SURF2 0 genome.wustl.edu 37 9 136227269 136227269 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 9 136227269 136227269 G A SNP SURF2 ENST00000371964 human ensembl 74_37 +1 known missense c.646 p.E216K 0.003 pfam_Surf2 pfam_Surf2 - no_errors SURF2 HGNC ENSG00000148291 43 0 0 37 7 15.9091 SEC16A 0 genome.wustl.edu 37 9 139342536 139342536 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 9 139342536 139342536 C T SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known silent c.6390 p.S2130 0.996 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 51 0 0 20 4 16.6667 TUBBP5 0 genome.wustl.edu 37 9 141070116 141070116 + RNA SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 9 141070116 141070116 G A SNP TUBBP5 ENST00000290377 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBBP5 HGNC ENSG00000159247 58 0 0 68 7 9.33333 ANKRD18A 0 genome.wustl.edu 37 9 38615738 38615738 + Missense_Mutation SNP A A C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 9 38615738 38615738 A C SNP ANKRD18A ENST00000399703 human ensembl 74_37 -1 known missense c.348 p.C116W 0.999 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD18A HGNC ENSG00000180071 32 0 0 20 10 33.3333 RAB40A 0 genome.wustl.edu 37 X 102755046 102755046 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b X 102755046 102755046 C T SNP RAB40A ENST00000304236 human ensembl 74_37 -1 known silent c.639 p.P213 0.998 pfam_SOCS_C,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,prints_Small_GTPase,pfscan_SOCS_C,tigrfam_Small_GTP-bd_dom - no_errors RAB40A HGNC ENSG00000172476 179 0 0 85 16 15.8416 CT47B1 0 genome.wustl.edu 37 X 120008995 120008995 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b X 120008995 120008995 G A SNP CT47B1 ENST00000371311 human ensembl 74_37 -1 known missense c.530 p.A177V 0.000 NULL NULL - no_errors CT47B1 HGNC ENSG00000236446 46 0 0 42 16 27.5862 DCAF12L2 0 genome.wustl.edu 37 X 125299837 125299837 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b X 125299837 125299837 G A SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.71 p.S24L 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 24 0 0 17 12 41.3793 ZIC3 0 genome.wustl.edu 37 X 136652214 136652214 + Missense_Mutation SNP C C A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b X 136652214 136652214 C A SNP ZIC3 ENST00000287538 human ensembl 74_37 +1 known missense c.1389 p.N463K 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC3 HGNC ENSG00000156925 426 0 0 138 17 10.9677 PLXNB3 0 genome.wustl.edu 37 X 153036318 153036318 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b X 153036318 153036318 C T SNP PLXNB3 ENST00000538966 human ensembl 74_37 +1 known missense c.2185 p.R729W 0.002 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,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 PLXNB3 HGNC ENSG00000198753 158 0 0 54 17 23.9437 PHKA2 0 genome.wustl.edu 37 X 18926989 18926989 + Missense_Mutation SNP C C G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b X 18926989 18926989 C G SNP PHKA2 ENST00000379942 human ensembl 74_37 -1 known missense c.2290 p.V764L 1.000 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 489 0 0 230 13 5.34979 CXorf58 0 genome.wustl.edu 37 X 23953497 23953497 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b X 23953497 23953497 C T SNP CXorf58 ENST00000379211 human ensembl 74_37 +1 known missense c.740 p.T247M 0.632 NULL NULL - no_errors CXorf58 HGNC ENSG00000165182 175 0 0 84 12 12.5 SYTL5 0 genome.wustl.edu 37 X 37893211 37893211 + Silent SNP C C A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b X 37893211 37893211 C A SNP SYTL5 ENST00000456733 human ensembl 74_37 +1 known silent c.69 p.G23 1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ - no_errors SYTL5 HGNC ENSG00000147041 142 0 0 70 6 7.89474 CCNB3 0 genome.wustl.edu 37 X 50051783 50051783 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b X 50051783 50051783 C T SNP CCNB3 ENST00000276014 human ensembl 74_37 +1 known missense c.614 p.A205V 0.000 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 169 0 0 84 6 6.66667 KDM5C 0 genome.wustl.edu 37 X 53224446 53224446 + Silent SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b X 53224446 53224446 G A SNP KDM5C ENST00000375401 human ensembl 74_37 -1 known silent c.3267 p.F1089 1.000 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 16 0 0 5 2 28.5714 SHROOM2 0 genome.wustl.edu 37 X 9905182 9905182 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b X 9905182 9905182 G A SNP SHROOM2 ENST00000380913 human ensembl 74_37 +1 known missense c.3596 p.R1199Q 1.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 11 0 0 6 4 40 MAGI3 0 genome.wustl.edu 37 1 114133187 114133188 + Frame_Shift_Ins INS - - A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 1 114133187 114133188 - A INS MAGI3 ENST00000369611 human ensembl 74_37 +1 known frame_shift_ins c.845_846 p.F282fs 1.000:1.000 smart_GK/Ca_channel_bsu pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI3 HGNC ENSG00000081026 140 0 0 58 12 17.1429 HIVEP3 0 genome.wustl.edu 37 1 41990509 41990510 + Frame_Shift_Ins INS - - C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 1 41990509 41990510 - C INS HIVEP3 ENST00000247584 human ensembl 74_37 -1 known frame_shift_ins c.5280_5279 p.I1761fs 1.000:1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 110 0 0 62 19 23.4568 EP400 0 genome.wustl.edu 37 12 132547135 132547136 + In_Frame_Ins INS - - CAG TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 12 132547135 132547136 - CAG INS EP400 ENST00000333577 human ensembl 74_37 +1 known in_frame_ins c.8331_8332 p.2781in_frame_insQ 0.764:0.650 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 21 0 0 57 13 18.5714 DNM1P47 0 genome.wustl.edu 37 15 102312241 102312241 + RNA DEL A A - TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 15 102312241 102312241 A - DEL DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors DNM1P47 HGNC ENSG00000259660 32 0 0 26 6 18.75 IL32 0 genome.wustl.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 16 3119304 3119305 - G INS IL32 ENST00000396890 human ensembl 74_37 +1 known frame_shift_ins c.653_654 p.D218fs 0.000:0.000 NULL NULL - no_errors IL32 HGNC ENSG00000008517 305 0 0 145 23 13.6905 ZNF160 0 genome.wustl.edu 37 19 53571593 53571594 + Frame_Shift_Ins INS - - T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 19 53571593 53571594 - T INS ZNF160 ENST00000418871 human ensembl 74_37 -1 known frame_shift_ins c.2194_2193 p.P731fs 0.824:0.826 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 ZNF160 HGNC ENSG00000170949 362 0 0 142 17 10.6918 HBP1 0 genome.wustl.edu 37 7 106836508 106836508 + Frame_Shift_Del DEL A A - TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 7 106836508 106836508 A - DEL HBP1 ENST00000222574 human ensembl 74_37 +1 known frame_shift_del c.1297 p.K433fs 1.000 superfamily_HMG_box_dom,smart_HMG_box_dom pfam_Ataxin-1_HBP1,pfam_HMG_box_dom,superfamily_Ataxin-1_HBP1,superfamily_HMG_box_dom,smart_Ataxin_AXH_dom,smart_HMG_box_dom,pfscan_Ataxin-1_HBP1,pfscan_HMG_box_dom - no_errors HBP1 HGNC ENSG00000105856 104 0 0 59 15 20.2703 ELMO1 0 genome.wustl.edu 37 7 37355558 37355559 + Frame_Shift_Ins INS - - T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b 7 37355558 37355559 - T INS ELMO1 ENST00000310758 human ensembl 74_37 -1 known frame_shift_ins c.85_84 p.P28fs 0.998:0.923 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 426 0 0 182 11 5.69948