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 COL11A1 0 genome.wustl.edu 37 1 103449740 103449740 + Missense_Mutation SNP A A T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 1 103449740 103449740 A T SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.2546 p.L849H 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 33 0 0 30 6 16.6667 CASZ1 0 genome.wustl.edu 37 1 10700034 10700034 + Silent SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 1 10700034 10700034 C T SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known silent c.4245 p.R1415 0.820 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 75 0 0 58 11 15.942 NTNG1 0 genome.wustl.edu 37 1 108023350 108023350 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 1 108023350 108023350 A G SNP NTNG1 ENST00000370068 human ensembl 74_37 +1 known missense c.1508 p.E503G 1.000 NULL pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 27 0 0 24 6 20 HSD3B2 0 genome.wustl.edu 37 1 119958041 119958041 + RNA SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 1 119958041 119958041 C T SNP HSD3B2 ENST00000443865 human ensembl 74_37 +1 known rna NULL NULL 0.079 - - - no_errors HSD3B2 HGNC ENSG00000203859 74 0 0 62 11 15.0685 TAS1R3 0 genome.wustl.edu 37 1 1268161 1268161 + Missense_Mutation SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 1 1268161 1268161 C T SNP TAS1R3 ENST00000339381 human ensembl 74_37 +1 known missense c.1250 p.A417V 0.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R3 HGNC ENSG00000169962 50 0 0 35 4 10.2564 PRAMEF11 0 genome.wustl.edu 37 1 12887678 12887678 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 1 12887678 12887678 A C SNP PRAMEF11 ENST00000535591 human ensembl 74_37 -1 known missense c.179 p.L60R 0.009 NULL NULL - no_errors PRAMEF11 HGNC ENSG00000204513 259 0 0 222 36 13.9535 S100A7A 0 genome.wustl.edu 37 1 153390570 153390570 + Silent SNP T T A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 1 153390570 153390570 T A SNP S100A7A ENST00000329256 human ensembl 74_37 +1 known silent c.12 p.T4 0.011 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors S100A7A HGNC ENSG00000184330 157 0 0 127 15 10.5634 KIRREL 0 genome.wustl.edu 37 1 158064484 158064484 + Silent SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 1 158064484 158064484 T C SNP KIRREL ENST00000368173 human ensembl 74_37 +1 known silent c.1896 p.S632 0.384 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL HGNC ENSG00000183853 73 0 0 63 13 17.1053 CD1D 0 genome.wustl.edu 37 1 158151310 158151310 + Missense_Mutation SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 1 158151310 158151310 C T SNP CD1D ENST00000368171 human ensembl 74_37 +1 known missense c.127 p.R43C 0.029 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1D HGNC ENSG00000158473 266 0 0 262 39 12.9568 OR10T2 0 genome.wustl.edu 37 1 158368853 158368853 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 1 158368853 158368853 A G SNP OR10T2 ENST00000334438 human ensembl 74_37 -1 known missense c.404 p.L135P 0.238 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 OR10T2 HGNC ENSG00000186306 130 0 0 130 10 7.14286 SPTA1 0 genome.wustl.edu 37 1 158585082 158585082 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 1 158585082 158585082 A C SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.6712 p.L2238V 0.317 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 201 0 0 180 40 18.1818 SPTA1 0 genome.wustl.edu 37 1 158612297 158612297 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 1 158612297 158612297 T G SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.4641 p.E1547D 0.999 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 69 0 0 71 19 21.1111 LY9 0 genome.wustl.edu 37 1 160793532 160793532 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 1 160793532 160793532 A C SNP LY9 ENST00000263285 human ensembl 74_37 +1 known missense c.1776 p.E592D 0.000 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors LY9 HGNC ENSG00000122224 233 0 0 153 28 15.4696 ESPNP 0 genome.wustl.edu 37 1 17023126 17023126 + RNA SNP C C G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 1 17023126 17023126 C G SNP ESPNP ENST00000492551 human ensembl 74_37 -1 known rna NULL NULL 0.541 - - - no_errors ESPNP HGNC ENSG00000268869 21 0 0 16 8 33.3333 ENSG00000225243 0 genome.wustl.edu 37 1 171168437 171168437 + RNA SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 1 171168437 171168437 A C SNP ENSG00000225243 ENST00000422841 human ensembl 74_37 -1 known rna NULL NULL 0.163 - - - no_errors RP1-127D3.4 Clone_based_vega_gene ENSG00000225243 72 0 0 59 8 11.9403 HMCN1 0 genome.wustl.edu 37 1 186026528 186026528 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 1 186026528 186026528 T G SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.7307 p.L2436R 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 101 0 0 82 17 17.1717 HMCN1 0 genome.wustl.edu 37 1 186122892 186122892 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 1 186122892 186122892 A C SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.15029 p.E5010A 1.000 pfam_G2_nidogen/fibulin_G2F,superfamily_GFP,smart_G2_nidogen/fibulin_G2F,pfscan_G2_nidogen/fibulin_G2F pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 69 0 0 68 20 22.7273 CRB1 0 genome.wustl.edu 37 1 197390846 197390846 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 1 197390846 197390846 T G SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known missense c.1888 p.F630V 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 134 0 0 139 19 12.0253 CACNA1S 0 genome.wustl.edu 37 1 201039501 201039501 + Silent SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 1 201039501 201039501 C T SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known silent c.2259 p.P753 0.428 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 102 0 0 85 16 15.8416 KCNH1 0 genome.wustl.edu 37 1 211093380 211093380 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 1 211093380 211093380 A C SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known missense c.1064 p.V355G 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 78 0 0 77 13 14.4444 FMN2 0 genome.wustl.edu 37 1 240370433 240370433 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 1 240370433 240370433 A G SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.2321 p.E774G 0.000 NULL pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 73 0 0 59 6 9.23077 FMN2 0 genome.wustl.edu 37 1 240555835 240555835 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 1 240555835 240555835 A G SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.4883 p.E1628G 0.960 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 95 0 0 66 16 19.5122 OR14K1 0 genome.wustl.edu 37 1 247902445 247902445 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 1 247902445 247902445 T G SNP OR14K1 ENST00000283225 human ensembl 74_37 +1 known missense c.529 p.C177G 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14K1 HGNC ENSG00000153230 187 0 0 169 12 6.62983 OR2T34 0 genome.wustl.edu 37 1 248737167 248737167 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 1 248737167 248737167 G A SNP OR2T34 ENST00000328782 human ensembl 74_37 -1 known missense c.892 p.R298C 0.000 pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T34 HGNC ENSG00000183310 22 0 0 35 7 16.6667 PUM1 0 genome.wustl.edu 37 1 31414062 31414062 + Nonsense_Mutation SNP T T A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 1 31414062 31414062 T A SNP PUM1 ENST00000426105 human ensembl 74_37 -1 known nonsense c.3178 p.K1060* 1.000 pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM1 HGNC ENSG00000134644 124 0 0 116 18 13.4328 CACHD1 0 genome.wustl.edu 37 1 65157095 65157095 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 1 65157095 65157095 G A SNP CACHD1 ENST00000371073 human ensembl 74_37 +1 known missense c.3676 p.D1226N 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC ENSG00000158966 104 0 0 110 15 12 ENSG00000231080 0 genome.wustl.edu 37 1 67293604 67293604 + RNA SNP A A T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 1 67293604 67293604 A T SNP ENSG00000231080 ENST00000456389 human ensembl 74_37 +1 known rna NULL NULL 0.946 - - - no_errors RP11-342H21.2 Clone_based_vega_gene ENSG00000231080 136 0 0 100 29 22.4806 LRRIQ3 0 genome.wustl.edu 37 1 74621436 74621436 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 1 74621436 74621436 A C SNP LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known missense c.688 p.L230V 0.997 pfscan_IQ_motif_EF-hand-BS pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 60 0 0 52 5 8.77193 ELTD1 0 genome.wustl.edu 37 1 79387376 79387376 + Nonsense_Mutation SNP G G T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 1 79387376 79387376 G T SNP ELTD1 ENST00000370742 human ensembl 74_37 -1 known nonsense c.1179 p.Y393* 0.157 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom 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 83 0 0 82 19 18.8119 CPXM2 0 genome.wustl.edu 37 10 125506356 125506356 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 10 125506356 125506356 T G SNP CPXM2 ENST00000241305 human ensembl 74_37 -1 known missense c.2195 p.K732T 0.951 superfamily_CarboxyPept-like_regulatory pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM2 HGNC ENSG00000121898 116 0 0 93 13 12.2642 PLXDC2 0 genome.wustl.edu 37 10 20568879 20568879 + RNA SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 10 20568879 20568879 A C SNP PLXDC2 ENST00000377238 human ensembl 74_37 +1 known rna NULL NULL 0.423 - - - no_errors PLXDC2 HGNC ENSG00000120594 11 0 0 7 4 36.3636 ARMC4 0 genome.wustl.edu 37 10 28270420 28270420 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 10 28270420 28270420 T G SNP ARMC4 ENST00000305242 human ensembl 74_37 -1 known missense c.911 p.K304T 0.081 superfamily_GSKIP_dom pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 83 0 0 75 9 10.7143 ERCC6 0 genome.wustl.edu 37 10 50681583 50681583 + Silent SNP G G C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 10 50681583 50681583 G C SNP ERCC6 ENST00000355832 human ensembl 74_37 -1 known silent c.2649 p.L883 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C 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 151 0 0 130 16 10.9589 PCDH15 0 genome.wustl.edu 37 10 55581742 55581742 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 10 55581742 55581742 A C SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.5744 p.L1915R 0.188 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 87 0 0 97 20 17.094 NRBF2 0 genome.wustl.edu 37 10 64913946 64913946 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 10 64913946 64913946 G A SNP NRBF2 ENST00000277746 human ensembl 74_37 +1 known missense c.832 p.E278K 1.000 pfam_DUF1875 pfam_DUF1875 - no_errors NRBF2 HGNC ENSG00000148572 60 0 0 49 10 16.9492 C10orf12 0 genome.wustl.edu 37 10 98742710 98742710 + Silent SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 10 98742710 98742710 A G SNP C10orf12 ENST00000286067 human ensembl 74_37 +1 known silent c.1563 p.L521 0.842 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 132 0 0 97 21 17.7966 DDI1 0 genome.wustl.edu 37 11 103908695 103908695 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 11 103908695 103908695 A C SNP DDI1 ENST00000302259 human ensembl 74_37 +1 known missense c.1145 p.K382T 0.002 NULL 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 58 0 0 46 5 9.80392 GRIA4 0 genome.wustl.edu 37 11 105845156 105845156 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 11 105845156 105845156 A C SNP GRIA4 ENST00000282499 human ensembl 74_37 +1 known missense c.2529 p.E843D 0.997 NULL 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 GRIA4 HGNC ENSG00000152578 96 0 0 90 12 11.7647 ZNF259 0 genome.wustl.edu 37 11 116653717 116653717 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 11 116653717 116653717 T C SNP ZNF259 ENST00000227322 human ensembl 74_37 -1 known missense c.1010 p.E337G 1.000 pfam_Znf_ZPR1,smart_Znf_ZPR1,tigrfam_Znf_ZPR1 pfam_Znf_ZPR1,smart_Znf_ZPR1,tigrfam_Znf_ZPR1 - no_errors ZNF259 HGNC ENSG00000109917 67 0 0 53 4 7.01754 DSCAML1 0 genome.wustl.edu 37 11 117332257 117332257 + Silent SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 11 117332257 117332257 G A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known silent c.3501 p.A1167 0.023 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 106 0 0 99 8 7.47664 OR4D5 0 genome.wustl.edu 37 11 123810958 123810958 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 11 123810958 123810958 T C SNP OR4D5 ENST00000307033 human ensembl 74_37 +1 known missense c.635 p.L212P 0.972 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D5 HGNC ENSG00000171014 210 0 0 197 49 19.9187 OR10G9 0 genome.wustl.edu 37 11 123894603 123894603 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 11 123894603 123894603 A C SNP OR10G9 ENST00000375024 human ensembl 74_37 +1 known missense c.884 p.K295T 0.998 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G9 HGNC ENSG00000236981 123 1 0.806452 105 18 14.6341 ROBO4 0 genome.wustl.edu 37 11 124756666 124756666 + Missense_Mutation SNP A A T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 11 124756666 124756666 A T SNP ROBO4 ENST00000306534 human ensembl 74_37 -1 known missense c.2488 p.Y830N 0.945 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO4 HGNC ENSG00000154133 106 0 0 109 16 12.8 JAM3 0 genome.wustl.edu 37 11 134010576 134010576 + Missense_Mutation SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 11 134010576 134010576 C T SNP JAM3 ENST00000529443 human ensembl 74_37 +1 known missense c.302 p.T101M 0.943 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors JAM3 HGNC ENSG00000166086 61 0 0 48 8 14.2857 NAV2 0 genome.wustl.edu 37 11 20066813 20066813 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 11 20066813 20066813 T G SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.3568 p.S1190A 1.000 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 81 0 0 67 9 11.8421 IGF2 0 genome.wustl.edu 37 11 2154862 2154862 + Missense_Mutation SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 11 2154862 2154862 C T SNP IGF2 ENST00000434045 human ensembl 74_37 -1 known missense c.359 p.R120H 1.000 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like pfam_IGF2_C,pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_IGF2,prints_Insulin_family,prints_Insulin-like_growth_factor - no_errors IGF2 HGNC ENSG00000167244 48 0 0 35 8 18.6047 OR4A47 0 genome.wustl.edu 37 11 48510658 48510658 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 11 48510658 48510658 T C SNP OR4A47 ENST00000446524 human ensembl 74_37 +1 known missense c.314 p.F105S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A47 HGNC ENSG00000237388 107 0 0 105 12 10.2564 OR52A1 0 genome.wustl.edu 37 11 5172765 5172765 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 11 5172765 5172765 A G SNP OR52A1 ENST00000328942 human ensembl 74_37 -1 known missense c.835 p.F279L 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52A1 HGNC ENSG00000182070 120 0 0 92 14 13.2075 HBD 0 genome.wustl.edu 37 11 5255610 5255610 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 11 5255610 5255610 T G SNP HBD ENST00000380299 human ensembl 74_37 -1 known missense c.54 p.K18N 0.634 pfam_Globin,superfamily_Globin-like,pfscan_Globin pfam_Globin,superfamily_Globin-like,prints_Haemoglobin_b,pfscan_Globin - no_errors HBD HGNC ENSG00000223609 101 0 0 56 13 18.8406 OR5L2 0 genome.wustl.edu 37 11 55595086 55595086 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 11 55595086 55595086 T C SNP OR5L2 ENST00000378397 human ensembl 74_37 +1 known missense c.392 p.L131P 0.931 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 OR5L2 HGNC ENSG00000205030 153 0 0 129 28 17.8344 OR5L2 0 genome.wustl.edu 37 11 55595254 55595254 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 11 55595254 55595254 T G SNP OR5L2 ENST00000378397 human ensembl 74_37 +1 known missense c.560 p.L187R 0.702 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 OR5L2 HGNC ENSG00000205030 224 0 0 194 35 15.2838 CTNND1 0 genome.wustl.edu 37 11 57577603 57577603 + Nonsense_Mutation SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 11 57577603 57577603 C T SNP CTNND1 ENST00000399050 human ensembl 74_37 +1 known nonsense c.2458 p.R820* 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 66 0 0 33 5 13.1579 OR52N5 0 genome.wustl.edu 37 11 5799454 5799454 + Nonsense_Mutation SNP G G C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 11 5799454 5799454 G C SNP OR52N5 ENST00000317093 human ensembl 74_37 -1 known nonsense c.411 p.Y137* 0.988 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR52N5 HGNC ENSG00000181009 87 0 0 102 17 14.2857 MPEG1 0 genome.wustl.edu 37 11 58979956 58979956 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 11 58979956 58979956 T C SNP MPEG1 ENST00000361050 human ensembl 74_37 -1 known missense c.383 p.K128R 1.000 pfam_MACPF pfam_MACPF,smart_MACPF - no_errors MPEG1 HGNC ENSG00000197629 91 0 0 98 23 19.0083 MTA2 0 genome.wustl.edu 37 11 62365105 62365105 + Silent SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 11 62365105 62365105 G A SNP MTA2 ENST00000278823 human ensembl 74_37 -1 known silent c.570 p.I190 0.901 pfam_ELM2_dom,pfscan_ELM2_dom pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors MTA2 HGNC ENSG00000149480 131 1 0.757576 120 10 7.69231 FAM71C 0 genome.wustl.edu 37 12 100043118 100043118 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 12 100043118 100043118 T G SNP FAM71C ENST00000324341 human ensembl 74_37 +1 known missense c.668 p.L223R 0.097 NULL pfam_DUF3699 - no_errors FAM71C HGNC ENSG00000180219 139 0 0 103 34 24.8175 GOLGA2P5 0 genome.wustl.edu 37 12 100562748 100562748 + RNA SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 12 100562748 100562748 A C SNP GOLGA2P5 ENST00000421840 human ensembl 74_37 -1 known rna NULL NULL 0.580 - - - no_errors GOLGA2B Clone_based_vega_gene ENSG00000238105 58 0 0 38 4 9.52381 CLEC12A 0 genome.wustl.edu 37 12 10124213 10124213 + Silent SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 12 10124213 10124213 T G SNP CLEC12A ENST00000355690 human ensembl 74_37 +1 known silent c.48 p.T16 1.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC12A HGNC ENSG00000172322 66 0 0 59 6 9.23077 BTBD11 0 genome.wustl.edu 37 12 108045467 108045467 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 12 108045467 108045467 A C SNP BTBD11 ENST00000280758 human ensembl 74_37 +1 known missense c.3008 p.K1003T 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 46 0 0 39 9 18.75 CCDC63 0 genome.wustl.edu 37 12 111342574 111342574 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 12 111342574 111342574 T G SNP CCDC63 ENST00000308208 human ensembl 74_37 +1 known missense c.1525 p.F509V 0.000 NULL NULL - no_errors CCDC63 HGNC ENSG00000173093 106 1 0.934579 90 17 15.8879 RBM19 0 genome.wustl.edu 37 12 114395629 114395629 + Silent SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 12 114395629 114395629 C T SNP RBM19 ENST00000261741 human ensembl 74_37 -1 known silent c.798 p.G266 0.000 NULL pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors RBM19 HGNC ENSG00000122965 166 0 0 132 23 14.8387 MED13L 0 genome.wustl.edu 37 12 116457702 116457702 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 12 116457702 116457702 T G SNP MED13L ENST00000281928 human ensembl 74_37 -1 known missense c.701 p.K234T 1.000 pfam_Mediator_Med13_N_met/fun pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 78 0 0 58 4 6.45161 TMEM132D 0 genome.wustl.edu 37 12 129558890 129558890 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 12 129558890 129558890 T G SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known missense c.2830 p.K944Q 0.979 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 135 0 0 87 15 14.7059 GSG1 0 genome.wustl.edu 37 12 13240138 13240138 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 12 13240138 13240138 A C SNP GSG1 ENST00000324458 human ensembl 74_37 -1 known missense c.694 p.L232V 0.995 NULL pfam_GSG-1 - no_errors GSG1 HGNC ENSG00000111305 94 0 0 64 18 21.9512 RERG 0 genome.wustl.edu 37 12 15262280 15262280 + Silent SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 12 15262280 15262280 A G SNP RERG ENST00000256953 human ensembl 74_37 -1 known silent c.364 p.L122 1.000 pfam_Small_GTPase,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 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 RERG HGNC ENSG00000134533 169 1 0.588235 142 28 16.4706 LINC00477 0 genome.wustl.edu 37 12 24736348 24736348 + RNA SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 12 24736348 24736348 G A SNP LINC00477 ENST00000483544 human ensembl 74_37 -1 known rna NULL NULL 0.021 - - - no_errors LINC00477 HGNC ENSG00000197503 18 0 0 24 3 11.1111 OVCH1 0 genome.wustl.edu 37 12 29644030 29644030 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 12 29644030 29644030 T G SNP OVCH1 ENST00000318184 human ensembl 74_37 -1 known missense c.550 p.T184P 0.671 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors OVCH1 HGNC ENSG00000187950 57 0 0 54 8 12.9032 NEUROD4 0 genome.wustl.edu 37 12 55420426 55420426 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 12 55420426 55420426 A G SNP NEUROD4 ENST00000242994 human ensembl 74_37 +1 known missense c.203 p.K68R 1.000 pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD4 HGNC ENSG00000123307 55 0 0 42 10 19.2308 C12orf55 0 genome.wustl.edu 37 12 97085072 97085072 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 12 97085072 97085072 T G SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative missense c.6248 p.V2083G 0.910 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 46 0 0 28 7 20 C12orf55 0 genome.wustl.edu 37 12 97158013 97158013 + Silent SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 12 97158013 97158013 A C SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative silent c.8125 p.R2709 0.998 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 25 0 0 32 4 11.1111 TPTE2 0 genome.wustl.edu 37 13 20041386 20041386 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 13 20041386 20041386 T G SNP TPTE2 ENST00000382977 human ensembl 74_37 -1 known missense c.491 p.K164T 0.000 pfam_Ion_trans_dom pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 60 0 0 52 12 18.75 SACS 0 genome.wustl.edu 37 13 23908498 23908498 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 13 23908498 23908498 A C SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.9517 p.F3173V 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 37 0 0 61 5 7.57576 SACS 0 genome.wustl.edu 37 13 23908500 23908500 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 13 23908500 23908500 T G SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.9515 p.K3172T 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 36 0 0 62 5 7.46269 RNF17 0 genome.wustl.edu 37 13 25367370 25367370 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 13 25367370 25367370 T G SNP RNF17 ENST00000255324 human ensembl 74_37 +1 known missense c.1126 p.F376V 0.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 183 0 0 161 54 25.1163 ATP8A2 0 genome.wustl.edu 37 13 26436488 26436488 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 13 26436488 26436488 T C SNP ATP8A2 ENST00000381655 human ensembl 74_37 +1 known missense c.3125 p.F1042S 0.997 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A2 HGNC ENSG00000132932 70 0 0 66 9 12 FLT1 0 genome.wustl.edu 37 13 28959121 28959121 + Missense_Mutation SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 13 28959121 28959121 C T SNP FLT1 ENST00000282397 human ensembl 74_37 -1 known missense c.2017 p.A673T 0.298 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt - no_errors FLT1 HGNC ENSG00000102755 144 1 0.689655 158 16 9.1954 NBEA 0 genome.wustl.edu 37 13 35758142 35758142 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 13 35758142 35758142 A G SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.4861 p.S1621G 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 36 0 0 42 11 20.7547 POSTN 0 genome.wustl.edu 37 13 38160293 38160293 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 13 38160293 38160293 T C SNP POSTN ENST00000379747 human ensembl 74_37 -1 known missense c.878 p.D293G 1.000 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 87 0 0 91 27 22.8814 POSTN 0 genome.wustl.edu 37 13 38162024 38162024 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 13 38162024 38162024 T G SNP POSTN ENST00000379747 human ensembl 74_37 -1 known missense c.541 p.N181H 1.000 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 81 0 0 98 10 9.25926 LCP1 0 genome.wustl.edu 37 13 46732680 46732680 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 13 46732680 46732680 A C SNP LCP1 ENST00000323076 human ensembl 74_37 -1 known missense c.335 p.V112G 0.999 NULL pfam_CH-domain,pfam_EF_hand_dom,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors LCP1 HGNC ENSG00000136167 55 0 0 68 24 26.087 KIAA0226L 0 genome.wustl.edu 37 13 46917551 46917551 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 13 46917551 46917551 A C SNP KIAA0226L ENST00000389908 human ensembl 74_37 -1 known missense c.1958 p.L653R 0.147 NULL NULL - no_errors KIAA0226L HGNC ENSG00000102445 45 0 0 51 14 21.5385 HTR2A 0 genome.wustl.edu 37 13 47409690 47409690 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 13 47409690 47409690 T G SNP HTR2A ENST00000378688 human ensembl 74_37 -1 known missense c.698 p.N233T 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2A HGNC ENSG00000102468 62 0 0 60 9 13.0435 UTP14C 0 genome.wustl.edu 37 13 52604528 52604528 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 13 52604528 52604528 G A SNP UTP14C ENST00000521776 human ensembl 74_37 +1 known missense c.1588 p.V530M 0.000 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14C HGNC ENSG00000253797 178 0 0 199 42 17.4274 EDNRB 0 genome.wustl.edu 37 13 78477428 78477428 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 13 78477428 78477428 T G SNP EDNRB ENST00000334286 human ensembl 74_37 -1 known missense c.664 p.I222L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 184 0 0 191 53 21.7213 EDNRB 0 genome.wustl.edu 37 13 78492671 78492671 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 13 78492671 78492671 A C SNP EDNRB ENST00000334286 human ensembl 74_37 -1 known missense c.38 p.V13G 0.962 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 44 0 0 55 10 15.3846 SLITRK5 0 genome.wustl.edu 37 13 88328833 88328833 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 13 88328833 88328833 A C SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.1190 p.K397T 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 48 0 0 77 9 10.4651 GPC6 0 genome.wustl.edu 37 13 94197663 94197663 + Missense_Mutation SNP A A T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 13 94197663 94197663 A T SNP GPC6 ENST00000377047 human ensembl 74_37 +1 known missense c.308 p.K103M 1.000 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 140 0 0 158 41 20.603 GPC6 0 genome.wustl.edu 37 13 94680041 94680041 + Missense_Mutation SNP G G C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 13 94680041 94680041 G C SNP GPC6 ENST00000377047 human ensembl 74_37 +1 known missense c.770 p.C257S 1.000 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 173 0 0 204 31 13.1915 AHNAK2 0 genome.wustl.edu 37 14 105415659 105415659 + Silent SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 14 105415659 105415659 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.6129 p.A2043 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 24 0 0 29 5 14.7059 OR4K17 0 genome.wustl.edu 37 14 20586335 20586335 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 14 20586335 20586335 A G SNP OR4K17 ENST00000315543 human ensembl 74_37 +1 known missense c.770 p.K257R 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K17 HGNC ENSG00000176230 120 0 0 110 19 14.7287 NOVA1 0 genome.wustl.edu 37 14 26917982 26917982 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 14 26917982 26917982 A C SNP NOVA1 ENST00000539517 human ensembl 74_37 -1 known missense c.707 p.L236R 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC ENSG00000139910 120 0 0 111 29 20.7143 AKAP6 0 genome.wustl.edu 37 14 33293936 33293936 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 14 33293936 33293936 T G SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known missense c.6917 p.L2306R 0.988 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 86 0 0 89 24 21.2389 TRIM9 0 genome.wustl.edu 37 14 51467557 51467557 + Silent SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 14 51467557 51467557 A C SNP TRIM9 ENST00000298355 human ensembl 74_37 -1 known silent c.1308 p.A436 0.996 superfamily_Fibronectin_type3 pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 73 0 0 50 11 18.0328 PELI2 0 genome.wustl.edu 37 14 56755305 56755305 + Missense_Mutation SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 14 56755305 56755305 C T SNP PELI2 ENST00000267460 human ensembl 74_37 +1 known missense c.460 p.R154W 0.970 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI2 HGNC ENSG00000139946 31 0 0 26 4 13.3333 ZFYVE26 0 genome.wustl.edu 37 14 68241785 68241785 + Silent SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 14 68241785 68241785 G A SNP ZFYVE26 ENST00000347230 human ensembl 74_37 -1 known silent c.5268 p.P1756 0.237 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 26 0 0 17 5 22.7273 RGS6 0 genome.wustl.edu 37 14 72944985 72944985 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 14 72944985 72944985 T G SNP RGS6 ENST00000553525 human ensembl 74_37 +1 known missense c.802 p.L268V 1.000 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS6 HGNC ENSG00000182732 42 0 0 19 5 20.8333 WHAMMP3 0 genome.wustl.edu 37 15 23205108 23205108 + RNA SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 15 23205108 23205108 C T SNP WHAMMP3 ENST00000400153 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors WHAMMP3 HGNC ENSG00000187667 17 0 0 18 4 18.1818 SNORD116-8 0 genome.wustl.edu 37 15 25315642 25315642 + RNA SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 15 25315642 25315642 T C SNP SNORD116-8 ENST00000384365 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORD116-8 HGNC ENSG00000207093 137 0 0 110 20 15.3846 ATP10A 0 genome.wustl.edu 37 15 25958965 25958965 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 15 25958965 25958965 A C SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.2200 p.F734V 1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 76 0 0 83 23 21.6981 MAPKBP1 0 genome.wustl.edu 37 15 42116181 42116181 + Silent SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 15 42116181 42116181 T C SNP MAPKBP1 ENST00000456763 human ensembl 74_37 +1 known silent c.4153 p.L1385 0.052 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MAPKBP1 HGNC ENSG00000137802 126 0 0 114 21 15.5556 NEDD4 0 genome.wustl.edu 37 15 56152694 56152694 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 15 56152694 56152694 A C SNP NEDD4 ENST00000508342 human ensembl 74_37 -1 known missense c.2128 p.L710V 0.000 NULL pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors NEDD4 HGNC ENSG00000069869 92 0 0 62 9 12.6761 TM6SF1 0 genome.wustl.edu 37 15 83790679 83790679 + Silent SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 15 83790679 83790679 T G SNP TM6SF1 ENST00000379386 human ensembl 74_37 +1 known silent c.414 p.T138 0.992 NULL pfam_Transmembrane_6/97 - no_errors TM6SF1 HGNC ENSG00000136404 93 0 0 71 7 8.97436 ADAMTSL3 0 genome.wustl.edu 37 15 84582078 84582078 + Silent SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 15 84582078 84582078 T G SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known silent c.1935 p.T645 0.255 superfamily_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 34 0 0 28 9 24.3243 ADAMTSL3 0 genome.wustl.edu 37 15 84651194 84651194 + Silent SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 15 84651194 84651194 A C SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known silent c.2814 p.R938 0.244 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 114 0 0 92 23 20 AGBL1 0 genome.wustl.edu 37 15 87089239 87089239 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 15 87089239 87089239 T C SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known missense c.2554 p.C852R 1.000 pfam_Peptidase_M14 pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 34 0 0 30 7 18.9189 DNAH3 0 genome.wustl.edu 37 16 20998712 20998712 + Missense_Mutation SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 16 20998712 20998712 C T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.6941 p.R2314H 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 131 0 0 124 15 10.7914 CLDN9 0 genome.wustl.edu 37 16 3063438 3063438 + Silent SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 16 3063438 3063438 C T SNP CLDN9 ENST00000445369 human ensembl 74_37 +1 known silent c.75 p.C25 0.798 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin9 - no_errors CLDN9 HGNC ENSG00000213937 87 0 0 62 8 11.4286 CCDC135 0 genome.wustl.edu 37 16 57760055 57760055 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 16 57760055 57760055 G A SNP CCDC135 ENST00000360716 human ensembl 74_37 +1 known missense c.1834 p.A612T 0.000 NULL NULL - no_errors CCDC135 HGNC ENSG00000159625 62 0 0 53 12 18.4615 HYDIN 0 genome.wustl.edu 37 16 71015346 71015346 + Silent SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 16 71015346 71015346 G A SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative silent c.4458 p.S1486 0.005 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 81 0 0 60 11 15.493 DNAH9 0 genome.wustl.edu 37 17 11520913 11520913 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 17 11520913 11520913 G A SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.1090 p.E364K 1.000 pfam_Dynein_heavy_dom-1 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 DNAH9 HGNC ENSG00000007174 93 0 0 70 11 13.5802 DNAH9 0 genome.wustl.edu 37 17 11671828 11671828 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 17 11671828 11671828 A C SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.7229 p.K2410T 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 DNAH9 HGNC ENSG00000007174 90 0 0 76 16 17.3913 TEFM 0 genome.wustl.edu 37 17 29231427 29231427 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 17 29231427 29231427 T G SNP TEFM ENST00000581216 human ensembl 74_37 -1 known missense c.152 p.D51A 0.807 NULL superfamily_RNaseH-like_dom - no_errors TEFM HGNC ENSG00000172171 64 0 0 55 7 11.2903 OR3A1 0 genome.wustl.edu 37 17 3195720 3195720 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 17 3195720 3195720 A C SNP OR3A1 ENST00000323404 human ensembl 74_37 -1 known missense c.157 p.L53V 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR3A1 HGNC ENSG00000180090 71 0 0 72 16 18.1818 KIF2B 0 genome.wustl.edu 37 17 51902173 51902173 + Missense_Mutation SNP A A T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 17 51902173 51902173 A T SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known missense c.1779 p.K593N 0.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 96 0 0 82 13 13.6842 NLRP1 0 genome.wustl.edu 37 17 5463142 5463142 + Missense_Mutation SNP G G T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 17 5463142 5463142 G T SNP NLRP1 ENST00000572272 human ensembl 74_37 -1 known missense c.874 p.Q292K 0.000 superfamily_P-loop_NTPase pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 313 0 0 240 34 12.4088 GH2 0 genome.wustl.edu 37 17 61957795 61957795 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 17 61957795 61957795 G A SNP GH2 ENST00000456543 human ensembl 74_37 -1 known missense c.536 p.T179M 0.386 NULL pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors GH2 HGNC ENSG00000136487 125 0 0 87 23 20.9091 C17orf59 0 genome.wustl.edu 37 17 8093038 8093038 + Missense_Mutation SNP C C G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 17 8093038 8093038 C G SNP C17orf59 ENST00000389017 human ensembl 74_37 -1 known missense c.421 p.E141Q 0.094 NULL pfam_DUF2365 - no_errors C17orf59 HGNC ENSG00000196544 45 0 0 37 3 7.5 GLP2R 0 genome.wustl.edu 37 17 9757876 9757876 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 17 9757876 9757876 T G SNP GLP2R ENST00000262441 human ensembl 74_37 +1 known missense c.569 p.L190R 0.984 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GLP2R HGNC ENSG00000065325 295 0 0 250 42 14.3836 CDH2 0 genome.wustl.edu 37 18 25565074 25565074 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 18 25565074 25565074 A C SNP CDH2 ENST00000269141 human ensembl 74_37 -1 known missense c.2099 p.V700G 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin/Desmocollin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH2 HGNC ENSG00000170558 58 0 0 51 10 16.3934 SETBP1 0 genome.wustl.edu 37 18 42531540 42531540 + Silent SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 18 42531540 42531540 C T SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known silent c.2235 p.A745 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 70 0 0 44 9 16.9811 SETBP1 0 genome.wustl.edu 37 18 42532135 42532135 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 18 42532135 42532135 A C SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.2830 p.S944R 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 73 0 0 63 14 18.1818 MYO5B 0 genome.wustl.edu 37 18 47488655 47488655 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 18 47488655 47488655 A C SNP MYO5B ENST00000285039 human ensembl 74_37 -1 known missense c.1526 p.L509R 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 133 0 0 107 8 6.95652 DCC 0 genome.wustl.edu 37 18 50961524 50961524 + Silent SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 18 50961524 50961524 A G SNP DCC ENST00000442544 human ensembl 74_37 +1 known silent c.3174 p.G1058 1.000 NULL pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 237 0 0 164 26 13.6842 SERPINB10 0 genome.wustl.edu 37 18 61597380 61597380 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 18 61597380 61597380 T G SNP SERPINB10 ENST00000238508 human ensembl 74_37 +1 known missense c.592 p.L198V 0.189 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB10 HGNC ENSG00000242550 110 0 0 78 14 15.2174 CYP4F12 0 genome.wustl.edu 37 19 15795950 15795950 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 19 15795950 15795950 G A SNP CYP4F12 ENST00000324632 human ensembl 74_37 +1 known missense c.1058 p.R353H 0.903 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F12 HGNC ENSG00000186204 91 0 0 64 13 16.8831 SIN3B 0 genome.wustl.edu 37 19 16942380 16942380 + Silent SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 19 16942380 16942380 C T SNP SIN3B ENST00000379803 human ensembl 74_37 +1 known silent c.303 p.N101 0.791 pfam_PAH,superfamily_PAH pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC ENSG00000127511 192 0 0 120 25 17.2414 NCAN 0 genome.wustl.edu 37 19 19339180 19339180 + Silent SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 19 19339180 19339180 G A SNP NCAN ENST00000252575 human ensembl 74_37 +1 known silent c.2751 p.P917 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link,prints_AntifreezeII - no_errors NCAN HGNC ENSG00000130287 156 0 0 149 11 6.875 ZNF626 0 genome.wustl.edu 37 19 20808392 20808392 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 19 20808392 20808392 T G SNP ZNF626 ENST00000601440 human ensembl 74_37 -1 known missense c.291 p.K97N 0.030 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF626 HGNC ENSG00000188171 76 0 0 74 12 13.9535 ZNF43 0 genome.wustl.edu 37 19 21992583 21992583 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 19 21992583 21992583 A C SNP ZNF43 ENST00000354959 human ensembl 74_37 -1 known missense c.256 p.F86V 0.003 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF43 HGNC ENSG00000198521 68 0 0 70 7 9.09091 ZNF729 0 genome.wustl.edu 37 19 22499609 22499609 + Silent SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 19 22499609 22499609 A G SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel silent c.3390 p.K1130 1.000 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 ZNF729 HGNC ENSG00000196350 46 0 0 43 10 18.8679 ZNF492 0 genome.wustl.edu 37 19 22836737 22836737 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 19 22836737 22836737 A G SNP ZNF492 ENST00000456783 human ensembl 74_37 +1 known missense c.50 p.K17R 0.455 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF492 HGNC ENSG00000229676 127 0 0 106 12 10.1695 ZNF492 0 genome.wustl.edu 37 19 22846703 22846703 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 19 22846703 22846703 A C SNP ZNF492 ENST00000456783 human ensembl 74_37 +1 known missense c.232 p.N78H 0.001 NULL pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF492 HGNC ENSG00000229676 14 0 0 11 5 31.25 ZNF260 0 genome.wustl.edu 37 19 37005915 37005915 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 19 37005915 37005915 T G SNP ZNF260 ENST00000523638 human ensembl 74_37 -1 known missense c.226 p.S76R 0.989 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF260 HGNC ENSG00000254004 125 0 0 126 24 16 ZNF568 0 genome.wustl.edu 37 19 37440630 37440630 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 19 37440630 37440630 T G SNP ZNF568 ENST00000333987 human ensembl 74_37 +1 known missense c.575 p.L192R 0.004 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF568 HGNC ENSG00000198453 121 0 0 106 16 13.1148 ZNF568 0 genome.wustl.edu 37 19 37441098 37441098 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 19 37441098 37441098 A C SNP ZNF568 ENST00000333987 human ensembl 74_37 +1 known missense c.1043 p.N348T 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF568 HGNC ENSG00000198453 81 0 0 70 9 11.3924 ZNF607 0 genome.wustl.edu 37 19 38190535 38190535 + Missense_Mutation SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 19 38190535 38190535 C T SNP ZNF607 ENST00000355202 human ensembl 74_37 -1 known missense c.497 p.R166H 0.705 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 ZNF607 HGNC ENSG00000198182 123 1 0.806452 106 17 13.8211 CEACAM8 0 genome.wustl.edu 37 19 43097731 43097731 + Missense_Mutation SNP A A T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 19 43097731 43097731 A T SNP CEACAM8 ENST00000244336 human ensembl 74_37 -1 known missense c.386 p.L129H 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM8 HGNC ENSG00000124469 158 0 0 151 27 15.1685 ZNF226 0 genome.wustl.edu 37 19 44679669 44679669 + Missense_Mutation SNP A A T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 19 44679669 44679669 A T SNP ZNF226 ENST00000337433 human ensembl 74_37 +1 known missense c.254 p.K85M 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF226 HGNC ENSG00000167380 43 0 0 24 6 20 SLC6A16 0 genome.wustl.edu 37 19 49814455 49814455 + Silent SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 19 49814455 49814455 T C SNP SLC6A16 ENST00000335875 human ensembl 74_37 -1 known silent c.150 p.Q50 0.000 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A16 HGNC ENSG00000063127 49 0 0 49 6 10.9091 SYT3 0 genome.wustl.edu 37 19 51135733 51135733 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 19 51135733 51135733 A C SNP SYT3 ENST00000338916 human ensembl 74_37 -1 known missense c.484 p.L162V 0.999 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors SYT3 HGNC ENSG00000213023 41 0 0 28 7 20 LIM2 0 genome.wustl.edu 37 19 51890495 51890495 + Missense_Mutation SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 19 51890495 51890495 C T SNP LIM2 ENST00000221973 human ensembl 74_37 -1 known missense c.203 p.R68H 0.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_LMIP,prints_PMP22_EMP_MP20 - no_errors LIM2 HGNC ENSG00000105370 103 0 0 90 16 15.0943 NLRP12 0 genome.wustl.edu 37 19 54299255 54299255 + Missense_Mutation SNP C C A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 19 54299255 54299255 C A SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known missense c.2956 p.A986S 0.001 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 37 0 0 42 6 12.5 TSEN34 0 genome.wustl.edu 37 19 54696123 54696123 + Missense_Mutation SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 19 54696123 54696123 C T SNP TSEN34 ENST00000429671 human ensembl 74_37 +1 known missense c.644 p.P215L 0.846 superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN34 pfam_tRNA_intron_Endonuc_cat-like,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN34,tigrfam_tRNA_splic - no_errors TSEN34 HGNC ENSG00000170892 101 0 0 88 20 18.5185 ZNF667 0 genome.wustl.edu 37 19 56952809 56952809 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 19 56952809 56952809 T C SNP ZNF667 ENST00000342634 human ensembl 74_37 -1 known missense c.1939 p.R647G 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF667 HGNC ENSG00000198046 60 0 0 52 7 11.8644 PEG3 0 genome.wustl.edu 37 19 57326640 57326640 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 19 57326640 57326640 T C SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.3170 p.K1057R 0.046 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 102 0 0 86 12 12.2449 PEG3 0 genome.wustl.edu 37 19 57327880 57327880 + Nonsense_Mutation SNP C C A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 19 57327880 57327880 C A SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known nonsense c.1930 p.E644* 0.349 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 100 0 0 94 11 10.4762 PEG3 0 genome.wustl.edu 37 19 57328104 57328104 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 19 57328104 57328104 T G SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.1706 p.K569T 0.996 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 116 0 0 103 13 11.2069 ZNF549 0 genome.wustl.edu 37 19 58048993 58048993 + Silent SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 19 58048993 58048993 A G SNP ZNF549 ENST00000376233 human ensembl 74_37 +1 known silent c.621 p.Q207 0.167 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF549 HGNC ENSG00000121406 70 0 0 57 9 13.6364 CD209 0 genome.wustl.edu 37 19 7809855 7809855 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 19 7809855 7809855 A G SNP CD209 ENST00000315599 human ensembl 74_37 -1 known missense c.872 p.L291P 0.023 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CD209 HGNC ENSG00000090659 98 0 0 96 12 11.1111 KANK3 0 genome.wustl.edu 37 19 8389405 8389405 + Silent SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 19 8389405 8389405 G A SNP KANK3 ENST00000593649 human ensembl 74_37 -1 known silent c.2310 p.A770 0.998 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors KANK3 HGNC ENSG00000186994 42 0 0 32 4 11.1111 MUC16 0 genome.wustl.edu 37 19 9060081 9060081 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 19 9060081 9060081 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.27365 p.L9122R 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 51 0 0 44 10 18.5185 MUC16 0 genome.wustl.edu 37 19 9061830 9061830 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 19 9061830 9061830 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.25616 p.L8539R 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 69 0 0 63 10 13.6986 MUC16 0 genome.wustl.edu 37 19 9076366 9076366 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 19 9076366 9076366 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.11080 p.S3694R 0.026 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 105 0 0 79 14 15.0538 MUC16 0 genome.wustl.edu 37 19 9086887 9086887 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 19 9086887 9086887 A G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.4928 p.V1643A 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 143 0 0 125 21 14.3836 ZNF426 0 genome.wustl.edu 37 19 9639571 9639571 + Silent SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 19 9639571 9639571 T G SNP ZNF426 ENST00000253115 human ensembl 74_37 -1 known silent c.1150 p.R384 0.039 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Znf_C2H2_jaz,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF426 HGNC ENSG00000130818 76 0 0 75 11 12.7907 CNTNAP5 0 genome.wustl.edu 37 2 125530496 125530496 + Missense_Mutation SNP A A T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 125530496 125530496 A T SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.2651 p.K884M 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 150 0 0 127 23 15.3333 SNTG2 0 genome.wustl.edu 37 2 1271173 1271173 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 1271173 1271173 T G SNP SNTG2 ENST00000308624 human ensembl 74_37 +1 known missense c.1114 p.L372V 0.938 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 13 0 0 10 3 23.0769 THSD7B 0 genome.wustl.edu 37 2 137852673 137852673 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 137852673 137852673 T G SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.1181 p.L394R 0.002 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 32 0 0 36 8 18.1818 THSD7B 0 genome.wustl.edu 37 2 138169270 138169270 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 138169270 138169270 A C SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.2787 p.Q929H 0.536 smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 137 0 0 91 21 18.75 LRP1B 0 genome.wustl.edu 37 2 141641403 141641403 + Silent SNP A A T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 141641403 141641403 A T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.4152 p.A1384 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 104 0 0 95 8 7.76699 XIRP2 0 genome.wustl.edu 37 2 168103841 168103841 + Missense_Mutation SNP A A T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 168103841 168103841 A T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.5939 p.K1980M 0.013 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 76 0 0 54 5 8.47458 MYO3B 0 genome.wustl.edu 37 2 171242770 171242770 + Silent SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 171242770 171242770 T G SNP MYO3B ENST00000334231 human ensembl 74_37 +1 known silent c.1389 p.T463 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 41 0 0 41 10 19.6078 HOXD3 0 genome.wustl.edu 37 2 177036916 177036916 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 177036916 177036916 G A SNP HOXD3 ENST00000249440 human ensembl 74_37 +1 known missense c.1213 p.D405N 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD3 HGNC ENSG00000128652 57 0 0 52 8 13.3333 TTN 0 genome.wustl.edu 37 2 179415900 179415900 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 179415900 179415900 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.83654 p.K27885T 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 43 0 0 61 14 18.6667 TTN 0 genome.wustl.edu 37 2 179472589 179472589 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 179472589 179472589 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.45221 p.L15074R 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 99 0 0 87 8 8.42105 TTN 0 genome.wustl.edu 37 2 179578774 179578774 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 179578774 179578774 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.22879 p.T7627P 0.972 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 30 0 0 31 6 16.2162 TTN 0 genome.wustl.edu 37 2 179613894 179613894 + Silent SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 179613894 179613894 T C SNP TTN ENST00000360870 human ensembl 74_37 -1 known silent c.13233 p.Q4411 0.716 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 73 0 0 49 7 12.5 TTN 0 genome.wustl.edu 37 2 179616053 179616053 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 179616053 179616053 T G SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.11074 p.S3692R 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 73 0 0 61 14 18.6667 DNAH7 0 genome.wustl.edu 37 2 196771459 196771459 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 196771459 196771459 A C SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.4259 p.L1420R 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 75 0 0 65 10 13.3333 MAP2 0 genome.wustl.edu 37 2 210561388 210561388 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 210561388 210561388 A G SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.4303 p.R1435G 1.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 78 0 0 58 11 15.942 ERBB4 0 genome.wustl.edu 37 2 212248599 212248599 + Missense_Mutation SNP T T A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 212248599 212248599 T A SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.3668 p.K1223M 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 183 0 0 179 24 11.8227 ERBB4 0 genome.wustl.edu 37 2 212426795 212426795 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 212426795 212426795 T C SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.2320 p.S774G 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 89 0 0 79 11 12.2222 ERBB4 0 genome.wustl.edu 37 2 212483974 212483974 + Silent SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 212483974 212483974 A G SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known silent c.2229 p.T743 0.500 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 95 0 0 44 9 16.9811 TMEM198 0 genome.wustl.edu 37 2 220409502 220409502 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 220409502 220409502 A G SNP TMEM198 ENST00000344458 human ensembl 74_37 +1 known missense c.53 p.D18G 0.999 NULL NULL - no_errors TMEM198 HGNC ENSG00000188760 106 0 0 85 14 14.1414 DOCK10 0 genome.wustl.edu 37 2 225702525 225702525 + Missense_Mutation SNP T T A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 225702525 225702525 T A SNP DOCK10 ENST00000258390 human ensembl 74_37 -1 known missense c.2804 p.K935M 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 56 0 0 43 13 23.2143 NYAP2 0 genome.wustl.edu 37 2 226447427 226447427 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 226447427 226447427 A G SNP NYAP2 ENST00000272907 human ensembl 74_37 +1 known missense c.1294 p.S432G 1.000 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 22 0 0 22 4 15.3846 COL4A4 0 genome.wustl.edu 37 2 227953493 227953493 + Missense_Mutation SNP C C A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 227953493 227953493 C A SNP COL4A4 ENST00000396625 human ensembl 74_37 -1 known missense c.1499 p.G500V 0.612 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 129 1 0.769231 97 13 11.8182 SPHKAP 0 genome.wustl.edu 37 2 228886451 228886451 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 228886451 228886451 T C SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.673 p.S225G 0.515 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 72 0 0 61 13 17.5676 POMC 0 genome.wustl.edu 37 2 25384357 25384357 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 25384357 25384357 G A SNP POMC ENST00000264708 human ensembl 74_37 -1 known missense c.397 p.R133C 0.035 NULL pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH - no_errors POMC HGNC ENSG00000115138 28 0 0 19 4 17.3913 DRC1 0 genome.wustl.edu 37 2 26671585 26671585 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 26671585 26671585 G A SNP DRC1 ENST00000288710 human ensembl 74_37 +1 known missense c.1423 p.A475T 0.000 NULL NULL - no_errors DRC1 HGNC ENSG00000157856 105 0 0 104 20 16.129 GALNT14 0 genome.wustl.edu 37 2 31215823 31215823 + Silent SNP C C A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 31215823 31215823 C A SNP GALNT14 ENST00000349752 human ensembl 74_37 -1 known silent c.180 p.R60 0.940 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT14 HGNC ENSG00000158089 59 0 0 65 7 9.72222 GALNT14 0 genome.wustl.edu 37 2 31215824 31215824 + Missense_Mutation SNP C C G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 31215824 31215824 C G SNP GALNT14 ENST00000349752 human ensembl 74_37 -1 known missense c.179 p.R60P 0.949 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT14 HGNC ENSG00000158089 59 0 0 65 7 9.72222 MYADML 0 genome.wustl.edu 37 2 33952773 33952773 + RNA SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 33952773 33952773 A G SNP MYADML ENST00000474610 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MYADML HGNC ENSG00000239649 33 0 0 39 6 13.3333 MAP4K3 0 genome.wustl.edu 37 2 39664044 39664044 + Missense_Mutation SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 39664044 39664044 C T SNP MAP4K3 ENST00000263881 human ensembl 74_37 -1 known missense c.85 p.D29N 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Citron,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,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K3 HGNC ENSG00000011566 32 0 0 20 4 16.6667 SLC8A1 0 genome.wustl.edu 37 2 40656259 40656259 + Silent SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 40656259 40656259 T G SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known silent c.1162 p.R388 0.951 tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 92 0 0 81 11 11.9565 SLC3A1 0 genome.wustl.edu 37 2 44531329 44531329 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 44531329 44531329 T C SNP SLC3A1 ENST00000260649 human ensembl 74_37 +1 known missense c.1184 p.M395T 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom - no_errors SLC3A1 HGNC ENSG00000138079 139 0 0 113 9 7.37705 FSHR 0 genome.wustl.edu 37 2 49191058 49191058 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 49191058 49191058 A C SNP FSHR ENST00000406846 human ensembl 74_37 -1 known missense c.902 p.V301G 0.172 pfam_GnHR_TM pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 153 0 0 134 23 14.6497 CD207 0 genome.wustl.edu 37 2 71058947 71058947 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 71058947 71058947 A C SNP CD207 ENST00000410009 human ensembl 74_37 -1 known missense c.721 p.F241V 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 CD207 HGNC ENSG00000116031 84 0 0 75 10 11.7647 CD207 0 genome.wustl.edu 37 2 71060118 71060118 + Silent SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 71060118 71060118 A G SNP CD207 ENST00000410009 human ensembl 74_37 -1 known silent c.630 p.S210 0.015 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 CD207 HGNC ENSG00000116031 64 0 0 44 12 21.4286 EXOC6B 0 genome.wustl.edu 37 2 72606879 72606879 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 72606879 72606879 A C SNP EXOC6B ENST00000272427 human ensembl 74_37 -1 known missense c.2101 p.L701V 0.486 pfam_Sec15,pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6B HGNC ENSG00000144036 36 0 0 38 5 11.6279 ANKRD20A8P 0 genome.wustl.edu 37 2 95522918 95522918 + RNA SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 95522918 95522918 G A SNP ANKRD20A8P ENST00000432432 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ANKRD20A8P HGNC ENSG00000229089 75 0 0 58 8 12.1212 SLA2 0 genome.wustl.edu 37 20 35261962 35261962 + Missense_Mutation SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 20 35261962 35261962 C T SNP SLA2 ENST00000262866 human ensembl 74_37 -1 known missense c.262 p.A88T 1.000 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2 - no_errors SLA2 HGNC ENSG00000101082 132 0 0 101 20 16.5289 WISP2 0 genome.wustl.edu 37 20 43355923 43355923 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 20 43355923 43355923 G A SNP WISP2 ENST00000190983 human ensembl 74_37 +1 known missense c.728 p.R243H 0.023 NULL pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP2 HGNC ENSG00000064205 43 0 0 45 4 8.16327 TMPRSS15 0 genome.wustl.edu 37 21 19687479 19687479 + Silent SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 21 19687479 19687479 T G SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known silent c.2016 p.S672 0.997 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 73 0 0 62 8 11.4286 ADAMTS1 0 genome.wustl.edu 37 21 28210466 28210466 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 21 28210466 28210466 A C SNP ADAMTS1 ENST00000284984 human ensembl 74_37 -1 known missense c.2336 p.L779R 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC ENSG00000154734 50 0 0 48 7 12.7273 ADAMTS1 0 genome.wustl.edu 37 21 28210864 28210864 + Missense_Mutation SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 21 28210864 28210864 C T SNP ADAMTS1 ENST00000284984 human ensembl 74_37 -1 known missense c.2098 p.G700S 1.000 prints_Peptidase_M12B_ADAM-TS pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC ENSG00000154734 58 0 0 44 7 13.7255 ADAMTS1 0 genome.wustl.edu 37 21 28211926 28211926 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 21 28211926 28211926 A C SNP ADAMTS1 ENST00000284984 human ensembl 74_37 -1 known missense c.2008 p.F670V 1.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC ENSG00000154734 205 0 0 132 27 16.9811 TEKT4P2 0 genome.wustl.edu 37 21 9907198 9907198 + RNA SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 21 9907198 9907198 C T SNP TEKT4P2 ENST00000416067 human ensembl 74_37 -1 known rna NULL NULL 0.017 - - - no_errors TEKT4P2 HGNC ENSG00000188681 12 0 0 8 4 33.3333 POTEH 0 genome.wustl.edu 37 22 16287378 16287378 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 22 16287378 16287378 A G SNP POTEH ENST00000343518 human ensembl 74_37 -1 known missense c.508 p.Y170H 0.030 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEH HGNC ENSG00000198062 234 0 0 266 14 5 CYP2D6 0 genome.wustl.edu 37 22 42522680 42522680 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 22 42522680 42522680 A C SNP CYP2D6 ENST00000360608 human ensembl 74_37 -1 known missense c.1390 p.F464V 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2D6 HGNC ENSG00000100197 27 0 0 27 8 22.8571 BRD1 0 genome.wustl.edu 37 22 50217634 50217634 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 22 50217634 50217634 G A SNP BRD1 ENST00000216267 human ensembl 74_37 -1 known missense c.332 p.P111L 0.000 pfam_Enhancer_polycomb-like_N pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,prints_Bromodomain,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors BRD1 HGNC ENSG00000100425 129 0 0 120 14 10.4478 SI 0 genome.wustl.edu 37 3 164735642 164735642 + Silent SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 3 164735642 164735642 A C SNP SI ENST00000264382 human ensembl 74_37 -1 known silent c.3540 p.T1180 0.792 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 46 0 0 110 8 6.77966 SI 0 genome.wustl.edu 37 3 164735779 164735779 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 3 164735779 164735779 A C SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.3499 p.L1167V 0.691 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 79 0 0 152 8 5 ZBBX 0 genome.wustl.edu 37 3 167034828 167034828 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 3 167034828 167034828 G A SNP ZBBX ENST00000307529 human ensembl 74_37 -1 known missense c.1159 p.P387S 0.962 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 73 0 0 101 10 9.00901 KCNMB2 0 genome.wustl.edu 37 3 178560470 178560470 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 3 178560470 178560470 T G SNP KCNMB2 ENST00000358316 human ensembl 74_37 +1 known missense c.453 p.N151K 0.997 pfam_K_chnl_Ca-activ_BK_bsu pfam_K_chnl_Ca-activ_BK_bsu,pfam_KCNMB2_ball_chain_dom,prints_K_chnl_Ca-activ_BK_bsu - no_errors KCNMB2 HGNC ENSG00000197584 88 0 0 76 13 14.6067 KLHL6 0 genome.wustl.edu 37 3 183273168 183273168 + Missense_Mutation SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 3 183273168 183273168 C T SNP KLHL6 ENST00000341319 human ensembl 74_37 -1 known missense c.274 p.A92T 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL6 HGNC ENSG00000172578 93 0 0 80 14 14.8936 SDHAP1 0 genome.wustl.edu 37 3 195713404 195713404 + RNA SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 3 195713404 195713404 T C SNP SDHAP1 ENST00000413474 human ensembl 74_37 -1 known rna NULL NULL 0.966 - - - no_errors SDHAP1 HGNC ENSG00000185485 21 0 0 14 4 22.2222 OXSM 0 genome.wustl.edu 37 3 25833414 25833414 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 3 25833414 25833414 A C SNP OXSM ENST00000280701 human ensembl 74_37 +1 known missense c.903 p.E301D 0.998 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 108 0 0 58 10 14.7059 ARPP21 0 genome.wustl.edu 37 3 35778853 35778853 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 3 35778853 35778853 A G SNP ARPP21 ENST00000417925 human ensembl 74_37 +1 known missense c.1541 p.Q514R 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 32 0 0 34 6 15 SCN10A 0 genome.wustl.edu 37 3 38739228 38739228 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 3 38739228 38739228 T G SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.5483 p.K1828T 0.998 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 108 0 0 97 8 7.61905 CNTN3 0 genome.wustl.edu 37 3 74350894 74350894 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 3 74350894 74350894 A G SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known missense c.1849 p.S617P 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 104 0 0 74 10 11.9048 GRM7 0 genome.wustl.edu 37 3 7456743 7456743 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 3 7456743 7456743 A C SNP GRM7 ENST00000402647 human ensembl 74_37 +1 known missense c.1067 p.E356A 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 55 0 0 36 8 18.1818 ROBO2 0 genome.wustl.edu 37 3 77530266 77530266 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 3 77530266 77530266 T C SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.563 p.L188P 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 116 0 0 82 22 21.1538 EPHA6 0 genome.wustl.edu 37 3 97356863 97356863 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 3 97356863 97356863 A C SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known missense c.2721 p.K907N 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom 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,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 69 0 0 65 15 18.75 EPHA6 0 genome.wustl.edu 37 3 97454923 97454923 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 3 97454923 97454923 A C SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known missense c.3089 p.N1030T 1.000 superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom 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,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 44 0 0 43 5 10.4167 FAT4 0 genome.wustl.edu 37 4 126370822 126370822 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 4 126370822 126370822 T G SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.8651 p.L2884R 0.989 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 127 0 0 97 17 14.9123 ZNF718 0 genome.wustl.edu 37 4 154768 154768 + RNA SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 4 154768 154768 T G SNP ZNF718 ENST00000502662 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF718 HGNC ENSG00000250312 59 0 0 40 7 14.8936 DCHS2 0 genome.wustl.edu 37 4 155191053 155191053 + Silent SNP T T A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 4 155191053 155191053 T A SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known silent c.5211 p.S1737 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 77 0 0 68 13 16.0494 RBM46 0 genome.wustl.edu 37 4 155720087 155720087 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 4 155720087 155720087 A C SNP RBM46 ENST00000281722 human ensembl 74_37 +1 known missense c.773 p.K258T 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 RBM46 HGNC ENSG00000151962 26 0 0 32 5 13.5135 GUCY1A3 0 genome.wustl.edu 37 4 156629419 156629419 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 4 156629419 156629419 A C SNP GUCY1A3 ENST00000296518 human ensembl 74_37 +1 known missense c.349 p.T117P 0.998 pfam_Heme_NO-bd,superfamily_NO_sig/Golgi_transp_ligand-bd pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A3 HGNC ENSG00000164116 70 0 0 39 8 17.0213 TENM3 0 genome.wustl.edu 37 4 183664404 183664404 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 4 183664404 183664404 G A SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.3461 p.R1154Q 1.000 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 45 0 0 42 5 10.6383 TRIML2 0 genome.wustl.edu 37 4 189020226 189020226 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 4 189020226 189020226 T C SNP TRIML2 ENST00000512729 human ensembl 74_37 -1 known missense c.434 p.E145G 0.017 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIML2 HGNC ENSG00000179046 75 0 0 74 19 20.4301 HSP90AA4P 0 genome.wustl.edu 37 4 190396121 190396121 + RNA SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 4 190396121 190396121 A C SNP HSP90AA4P ENST00000378770 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSP90AA4P HGNC ENSG00000205100 73 0 0 48 10 17.2414 POLR2B 0 genome.wustl.edu 37 4 57860970 57860970 + Missense_Mutation SNP T T A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 4 57860970 57860970 T A SNP POLR2B ENST00000314595 human ensembl 74_37 +1 known missense c.514 p.C172S 1.000 pfam_RNA_pol_bsu_protrusion pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5 - no_errors POLR2B HGNC ENSG00000047315 90 0 0 70 16 18.6047 PPEF2 0 genome.wustl.edu 37 4 76787343 76787343 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 4 76787343 76787343 T G SNP PPEF2 ENST00000286719 human ensembl 74_37 -1 known missense c.1919 p.E640A 1.000 pirsf_Ser/Thr-Pase_EF-hand_contain pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_dom,prints_Ser/Thr-sp_prot-phosphatase,pfscan_EF_hand_dom - no_errors PPEF2 HGNC ENSG00000156194 141 0 0 127 24 15.894 BMP3 0 genome.wustl.edu 37 4 81967513 81967513 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 4 81967513 81967513 A C SNP BMP3 ENST00000282701 human ensembl 74_37 +1 known missense c.938 p.E313A 0.003 pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors BMP3 HGNC ENSG00000152785 45 0 0 37 8 17.7778 DSPP 0 genome.wustl.edu 37 4 88534300 88534300 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 4 88534300 88534300 A C SNP DSPP ENST00000282478 human ensembl 74_37 +1 known missense c.962 p.K321T 0.009 NULL NULL - no_errors DSPP HGNC ENSG00000152591 49 0 0 29 11 27.5 SNCAIP 0 genome.wustl.edu 37 5 121787094 121787094 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 5 121787094 121787094 A C SNP SNCAIP ENST00000379533 human ensembl 74_37 +1 known missense c.2693 p.N898T 0.003 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SNCAIP HGNC ENSG00000064692 115 0 0 105 15 12.5 SLC27A6 0 genome.wustl.edu 37 5 128302234 128302234 + Missense_Mutation SNP T T A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 5 128302234 128302234 T A SNP SLC27A6 ENST00000262462 human ensembl 74_37 +1 known missense c.404 p.L135H 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A6 HGNC ENSG00000113396 42 0 0 30 4 11.7647 DNAH5 0 genome.wustl.edu 37 5 13729585 13729585 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 5 13729585 13729585 A C SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.11846 p.L3949R 1.000 pfam_Dynein_heavy_dom 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 89 0 0 83 16 16.1616 DNAH5 0 genome.wustl.edu 37 5 13769199 13769199 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 5 13769199 13769199 T G SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.9767 p.K3256T 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 290 0 0 227 43 15.9259 PCDHA5 0 genome.wustl.edu 37 5 140203177 140203177 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 5 140203177 140203177 T C SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known missense c.1817 p.L606P 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 86 0 0 95 10 9.52381 PCDHB3 0 genome.wustl.edu 37 5 140482134 140482134 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 5 140482134 140482134 A G SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.1901 p.D634G 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 114 0 0 112 22 16.4179 PCDHGA3 0 genome.wustl.edu 37 5 140723787 140723787 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 5 140723787 140723787 G A SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known missense c.187 p.G63R 0.524 pfam_Cadherin_N,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 165 0 0 144 32 18.1818 SPINK5 0 genome.wustl.edu 37 5 147470754 147470754 + Missense_Mutation SNP G G C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 5 147470754 147470754 G C SNP SPINK5 ENST00000359874 human ensembl 74_37 +1 known missense c.629 p.R210P 0.000 smart_Kazal_dom pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK5 HGNC ENSG00000133710 23 0 0 18 4 18.1818 FAT2 0 genome.wustl.edu 37 5 150925275 150925275 + Silent SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 5 150925275 150925275 A G SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known silent c.5413 p.L1805 0.689 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 105 0 0 98 17 14.7826 FAM114A2 0 genome.wustl.edu 37 5 153390808 153390808 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 5 153390808 153390808 A C SNP FAM114A2 ENST00000351797 human ensembl 74_37 -1 known missense c.986 p.L329R 1.000 NULL pfam_DUF719 - no_errors FAM114A2 HGNC ENSG00000055147 86 0 0 76 9 10.5882 FAM71B 0 genome.wustl.edu 37 5 156590352 156590352 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 5 156590352 156590352 T G SNP FAM71B ENST00000302938 human ensembl 74_37 -1 known missense c.924 p.Q308H 0.015 NULL pfam_DUF3699 - no_errors FAM71B HGNC ENSG00000170613 143 0 0 124 22 15.0685 ENSG00000181495 0 genome.wustl.edu 37 5 32789795 32789795 + Silent SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 5 32789795 32789795 T G SNP ENSG00000181495 ENST00000326958 human ensembl 74_37 +1 novel silent c.288 p.T96 0.187 NULL NULL - no_errors AC026703.1 Clone_based_ensembl_gene ENSG00000181495 107 0 0 79 11 12.2222 SPEF2 0 genome.wustl.edu 37 5 35641550 35641550 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 5 35641550 35641550 T C SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known missense c.179 p.L60P 1.000 pfam_DUF1042,superfamily_CH-domain,pfscan_CH-domain pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 95 0 0 73 17 18.8889 C5orf42 0 genome.wustl.edu 37 5 37187931 37187931 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 5 37187931 37187931 T G SNP C5orf42 ENST00000425232 human ensembl 74_37 -1 known missense c.3825 p.E1275D 0.993 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 25 0 0 20 5 20 HTR1A 0 genome.wustl.edu 37 5 63257405 63257405 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 5 63257405 63257405 A C SNP HTR1A ENST00000323865 human ensembl 74_37 -1 known missense c.142 p.F48V 1.000 pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 62 0 0 66 11 14.2857 AGGF1 0 genome.wustl.edu 37 5 76358896 76358896 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 5 76358896 76358896 G A SNP AGGF1 ENST00000312916 human ensembl 74_37 +1 known missense c.1964 p.R655Q 0.057 pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom pfam_FHA_dom,pfam_G_patch_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_G_patch_dom,pfscan_FHA_dom,pfscan_G_patch_dom - no_errors AGGF1 HGNC ENSG00000164252 399 0 0 309 44 12.4646 VCAN 0 genome.wustl.edu 37 5 82815417 82815417 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 5 82815417 82815417 A C SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.1292 p.K431T 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 76 0 0 68 16 19.0476 VCAN 0 genome.wustl.edu 37 5 82815448 82815448 + Silent SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 5 82815448 82815448 T G SNP VCAN ENST00000265077 human ensembl 74_37 +1 known silent c.1323 p.P441 0.736 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 89 0 0 70 16 18.6047 VCAN 0 genome.wustl.edu 37 5 82836092 82836092 + Silent SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 5 82836092 82836092 T C SNP VCAN ENST00000265077 human ensembl 74_37 +1 known silent c.7270 p.L2424 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 118 0 0 100 18 15.2542 VCAN 0 genome.wustl.edu 37 5 82836790 82836790 + Silent SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 5 82836790 82836790 T G SNP VCAN ENST00000265077 human ensembl 74_37 +1 known silent c.7968 p.T2656 0.111 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 112 0 0 88 12 12 SEMA5A 0 genome.wustl.edu 37 5 9197384 9197384 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 5 9197384 9197384 A G SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known missense c.964 p.F322L 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 101 0 0 94 20 17.5439 SYCP2L 0 genome.wustl.edu 37 6 10903119 10903119 + Silent SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 6 10903119 10903119 T C SNP SYCP2L ENST00000283141 human ensembl 74_37 +1 known silent c.564 p.T188 0.071 NULL NULL - no_errors SYCP2L HGNC ENSG00000153157 60 0 0 47 14 22.9508 TBC1D32 0 genome.wustl.edu 37 6 121412189 121412189 + Splice_Site SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 6 121412189 121412189 T G SNP TBC1D32 ENST00000464622 human ensembl 74_37 -1 known splice_site c.327-2 e4-2 1.000 - - - no_errors TBC1D32 HGNC ENSG00000146350 76 0 0 65 13 16.6667 KIAA0408 0 genome.wustl.edu 37 6 127767947 127767947 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 6 127767947 127767947 T C SNP KIAA0408 ENST00000483725 human ensembl 74_37 -1 novel missense c.1517 p.E506G 0.898 NULL NULL - no_errors KIAA0408 HGNC ENSG00000189367 75 0 0 55 10 15.3846 RGS17 0 genome.wustl.edu 37 6 153347643 153347643 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 6 153347643 153347643 G A SNP RGS17 ENST00000206262 human ensembl 74_37 -1 known missense c.155 p.A52V 0.563 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS17 HGNC ENSG00000091844 122 0 0 99 17 14.6552 DCDC2 0 genome.wustl.edu 37 6 24291223 24291223 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 6 24291223 24291223 T G SNP DCDC2 ENST00000378454 human ensembl 74_37 -1 known missense c.641 p.K214T 0.864 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors DCDC2 HGNC ENSG00000146038 58 0 0 41 6 12.766 BTN2A2 0 genome.wustl.edu 37 6 26388372 26388372 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 6 26388372 26388372 G A SNP BTN2A2 ENST00000356709 human ensembl 74_37 +1 known missense c.574 p.A192T 0.013 pfam_CD80_C2-set pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN2A2 HGNC ENSG00000124508 102 0 0 90 10 10 OR2J3 0 genome.wustl.edu 37 6 29080491 29080491 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 6 29080491 29080491 A C SNP OR2J3 ENST00000377169 human ensembl 74_37 +1 known missense c.824 p.K275T 0.322 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2J3 HGNC ENSG00000204701 90 0 0 65 13 16.6667 LOC101929006 0 genome.wustl.edu 37 6 29231675 29231675 + RNA SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 6 29231675 29231675 A C SNP LOC101929006 ENST00000441381 human ensembl 74_37 +1 known rna NULL NULL 0.977 - - - no_errors XXbac-BPG308J9.3 Clone_based_vega_gene ENSG00000232505 174 0 0 150 24 13.7931 C6orf47 0 genome.wustl.edu 37 6 31627482 31627482 + Silent SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 6 31627482 31627482 C T SNP C6orf47 ENST00000375911 human ensembl 74_37 -1 known silent c.243 p.E81 0.137 NULL NULL - no_errors C6orf47 HGNC ENSG00000204439 59 0 0 57 12 17.3913 F13A1 0 genome.wustl.edu 37 6 6145969 6145969 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 6 6145969 6145969 T G SNP F13A1 ENST00000264870 human ensembl 74_37 -1 known missense c.2082 p.E694D 0.725 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors F13A1 HGNC ENSG00000124491 111 0 0 89 12 11.8812 COL19A1 0 genome.wustl.edu 37 6 70745826 70745826 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 6 70745826 70745826 T G SNP COL19A1 ENST00000322773 human ensembl 74_37 +1 known missense c.1165 p.L389V 1.000 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 59 0 0 41 14 25.4545 COQ3 0 genome.wustl.edu 37 6 99819343 99819343 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 6 99819343 99819343 A C SNP COQ3 ENST00000254759 human ensembl 74_37 -1 known missense c.850 p.F284V 1.000 tigrfam_UbiG_MeTrfase pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_Mycolic_cyclopropane_synthase,pfam_UbiE/COQ5_MeTrFase,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_SAM-MeTfrase_NodS-related,tigrfam_UbiG_MeTrfase - no_errors COQ3 HGNC ENSG00000132423 65 0 0 42 9 17.6471 PLOD3 0 genome.wustl.edu 37 7 100853686 100853686 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 7 100853686 100853686 G A SNP PLOD3 ENST00000223127 human ensembl 74_37 -1 known missense c.1540 p.R514W 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD3 HGNC ENSG00000106397 30 0 0 37 4 9.7561 IMMP2L 0 genome.wustl.edu 37 7 110526690 110526690 + Missense_Mutation SNP C C G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 7 110526690 110526690 C G SNP IMMP2L ENST00000331762 human ensembl 74_37 -1 known missense c.367 p.D123H 1.000 superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1 pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1,tigrfam_Pept_S26A_signal_pept_1 - no_errors IMMP2L HGNC ENSG00000184903 77 0 0 48 10 17.2414 RBM33 0 genome.wustl.edu 37 7 155537721 155537721 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 7 155537721 155537721 G A SNP RBM33 ENST00000401878 human ensembl 74_37 +1 known missense c.2404 p.E802K 1.000 NULL smart_RRM_dom - no_errors RBM33 HGNC ENSG00000184863 19 0 0 8 4 33.3333 WDR60 0 genome.wustl.edu 37 7 158695154 158695154 + Missense_Mutation SNP C C A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 7 158695154 158695154 C A SNP WDR60 ENST00000407559 human ensembl 74_37 +1 known missense c.1225 p.P409T 0.996 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR60 HGNC ENSG00000126870 77 0 0 45 8 15.0943 ABCB5 0 genome.wustl.edu 37 7 20685666 20685666 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 7 20685666 20685666 T C SNP ABCB5 ENST00000404938 human ensembl 74_37 +1 putative missense c.886 p.F296L 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB5 HGNC ENSG00000004846 48 0 0 32 11 25.5814 GPNMB 0 genome.wustl.edu 37 7 23292999 23292999 + Silent SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 7 23292999 23292999 T G SNP GPNMB ENST00000381990 human ensembl 74_37 +1 known silent c.144 p.S48 0.921 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors GPNMB HGNC ENSG00000136235 102 0 0 71 12 14.4578 BBS9 0 genome.wustl.edu 37 7 33397593 33397593 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 7 33397593 33397593 T G SNP BBS9 ENST00000242067 human ensembl 74_37 +1 known missense c.1679 p.L560R 0.836 NULL NULL - no_errors BBS9 HGNC ENSG00000122507 64 0 0 76 11 12.6437 GLI3 0 genome.wustl.edu 37 7 42006192 42006192 + Missense_Mutation SNP G G T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 7 42006192 42006192 G T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.2479 p.L827I 0.988 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 118 0 0 101 15 12.931 ZNF273 0 genome.wustl.edu 37 7 64389422 64389422 + RNA SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 7 64389422 64389422 T C SNP ZNF273 ENST00000527278 human ensembl 74_37 +1 known rna NULL NULL 0.137 - - - no_errors ZNF273 HGNC ENSG00000198039 51 0 0 40 10 20 ZNF117 0 genome.wustl.edu 37 7 64439906 64439906 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 7 64439906 64439906 A G SNP ZNF117 ENST00000282869 human ensembl 74_37 -1 known missense c.43 p.Y15H 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF117 HGNC ENSG00000152926 35 0 0 14 5 26.3158 WBSCR17 0 genome.wustl.edu 37 7 70597831 70597831 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 7 70597831 70597831 T G SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known missense c.43 p.L15V 0.996 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 24 0 0 23 5 17.8571 PCLO 0 genome.wustl.edu 37 7 82544559 82544559 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 7 82544559 82544559 T G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.12743 p.N4248T 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 17 0 0 29 4 12.1212 PCLO 0 genome.wustl.edu 37 7 82545733 82545733 + Silent SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 7 82545733 82545733 T G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.11569 p.R3857 0.957 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 255 0 0 238 54 18.4932 UBR5 0 genome.wustl.edu 37 8 103357767 103357767 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 8 103357767 103357767 A C SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known missense c.743 p.L248R 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 45 0 0 35 5 12.5 DPYS 0 genome.wustl.edu 37 8 105436539 105436539 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 8 105436539 105436539 T C SNP DPYS ENST00000351513 human ensembl 74_37 -1 known missense c.1171 p.R391G 1.000 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYS HGNC ENSG00000147647 93 0 0 86 10 10.4167 TRHR 0 genome.wustl.edu 37 8 110100172 110100172 + Missense_Mutation SNP A A T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 8 110100172 110100172 A T SNP TRHR ENST00000311762 human ensembl 74_37 +1 known missense c.431 p.K144M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_TRH_rcpt_1,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_TRH_rcpt_1,prints_GPCR_Rhodpsn - no_errors TRHR HGNC ENSG00000174417 61 0 0 86 8 8.51064 PKHD1L1 0 genome.wustl.edu 37 8 110445390 110445390 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 8 110445390 110445390 T G SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.3285 p.S1095R 0.627 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 251 0 0 207 27 11.5385 CSMD3 0 genome.wustl.edu 37 8 113304877 113304877 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 8 113304877 113304877 A G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.8677 p.F2893L 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 111 1 0.892857 104 9 7.9646 CSMD3 0 genome.wustl.edu 37 8 113348960 113348960 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 8 113348960 113348960 T C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.6940 p.R2314G 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 170 0 0 146 18 10.9756 CSMD3 0 genome.wustl.edu 37 8 113933896 113933896 + Missense_Mutation SNP T T A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 8 113933896 113933896 T A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.1593 p.E531D 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 78 0 0 79 8 9.1954 TRPS1 0 genome.wustl.edu 37 8 116631822 116631822 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 8 116631822 116631822 T G SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.503 p.K168T 0.999 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 83 0 0 102 16 13.5593 HAS2 0 genome.wustl.edu 37 8 122626941 122626941 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 8 122626941 122626941 T G SNP HAS2 ENST00000303924 human ensembl 74_37 -1 known missense c.1067 p.K356T 1.000 pfam_Chitin_synth_fng pfam_Chitin_synth_fng - no_errors HAS2 HGNC ENSG00000170961 102 0 0 125 15 10.7143 TG 0 genome.wustl.edu 37 8 133912519 133912519 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 8 133912519 133912519 G A SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.3368 p.G1123D 0.001 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 45 0 0 30 8 21.0526 ST3GAL1 0 genome.wustl.edu 37 8 134477158 134477158 + Silent SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 8 134477158 134477158 C T SNP ST3GAL1 ENST00000319914 human ensembl 74_37 -1 known silent c.546 p.G182 0.868 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL1 HGNC ENSG00000008513 197 0 0 200 34 14.5299 SGCZ 0 genome.wustl.edu 37 8 13959935 13959935 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 8 13959935 13959935 A C SNP SGCZ ENST00000382080 human ensembl 74_37 -1 known missense c.694 p.F232V 1.000 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCZ HGNC ENSG00000185053 56 0 0 63 6 8.69565 CYP11B1 0 genome.wustl.edu 37 8 143956698 143956698 + Silent SNP T T A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 8 143956698 143956698 T A SNP CYP11B1 ENST00000292427 human ensembl 74_37 -1 known silent c.1152 p.R384 0.001 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 34 0 0 38 5 11.6279 TUSC3 0 genome.wustl.edu 37 8 15480646 15480646 + Missense_Mutation SNP T T A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 8 15480646 15480646 T A SNP TUSC3 ENST00000503731 human ensembl 74_37 +1 known missense c.196 p.F66I 1.000 superfamily_Thioredoxin-like_fold pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TUSC3 HGNC ENSG00000104723 71 0 0 72 8 10 TUSC3 0 genome.wustl.edu 37 8 15605922 15605922 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 8 15605922 15605922 T C SNP TUSC3 ENST00000503731 human ensembl 74_37 +1 known missense c.976 p.F326L 1.000 pfam_OligosaccharylTrfase_OST3/OST6 pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TUSC3 HGNC ENSG00000104723 116 0 0 102 14 12.069 RP1 0 genome.wustl.edu 37 8 55537320 55537320 + Missense_Mutation SNP C C G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 8 55537320 55537320 C G SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.878 p.S293C 0.999 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 54 0 0 56 7 11.1111 RP1 0 genome.wustl.edu 37 8 55542278 55542278 + Missense_Mutation SNP T T A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 8 55542278 55542278 T A SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.5836 p.F1946I 0.146 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 69 0 0 86 14 14 PREX2 0 genome.wustl.edu 37 8 69017601 69017601 + RNA SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 8 69017601 69017601 T G SNP PREX2 ENST00000529398 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors PREX2 HGNC ENSG00000046889 29 0 0 32 5 13.5135 TRPA1 0 genome.wustl.edu 37 8 72951153 72951153 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 8 72951153 72951153 A G SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.2242 p.S748P 1.000 NULL 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 75 0 0 74 8 9.7561 CRISPLD1 0 genome.wustl.edu 37 8 75924709 75924709 + Silent SNP T T A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 8 75924709 75924709 T A SNP CRISPLD1 ENST00000262207 human ensembl 74_37 +1 known silent c.300 p.A100 0.996 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD1 HGNC ENSG00000121005 90 0 0 98 7 6.66667 DCAF4L2 0 genome.wustl.edu 37 8 88885921 88885921 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 8 88885921 88885921 T G SNP DCAF4L2 ENST00000319675 human ensembl 74_37 -1 known missense c.279 p.E93D 0.015 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC ENSG00000176566 117 0 0 149 18 10.7784 MMP16 0 genome.wustl.edu 37 8 89131066 89131066 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 8 89131066 89131066 A C SNP MMP16 ENST00000286614 human ensembl 74_37 -1 known missense c.734 p.V245G 1.000 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP16 HGNC ENSG00000156103 32 0 0 46 12 20.6897 MMP16 0 genome.wustl.edu 37 8 89339369 89339369 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 8 89339369 89339369 A C SNP MMP16 ENST00000286614 human ensembl 74_37 -1 known missense c.67 p.L23V 1.000 pirsf_Pept_M10A_Metazoans pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP16 HGNC ENSG00000156103 104 0 0 86 14 14 CPQ 0 genome.wustl.edu 37 8 97797501 97797501 + Silent SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 8 97797501 97797501 A C SNP CPQ ENST00000220763 human ensembl 74_37 +1 known silent c.376 p.R126 0.058 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors CPQ HGNC ENSG00000104324 44 0 0 45 6 11.7647 GRIN3A 0 genome.wustl.edu 37 9 104433163 104433163 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 9 104433163 104433163 T G SNP GRIN3A ENST00000361820 human ensembl 74_37 -1 known missense c.1531 p.S511R 0.035 NULL pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 138 0 0 99 41 29.2857 SVEP1 0 genome.wustl.edu 37 9 113276307 113276307 + Silent SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 9 113276307 113276307 G A SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known silent c.1044 p.H348 1.000 pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt_N_dom pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 26 0 0 14 9 39.1304 HSDL2 0 genome.wustl.edu 37 9 115142436 115142436 + RNA SNP C C G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 9 115142436 115142436 C G SNP HSDL2 ENST00000467434 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HSDL2 HGNC ENSG00000119471 13 0 0 8 5 38.4615 C9orf43 0 genome.wustl.edu 37 9 116191605 116191605 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 9 116191605 116191605 T G SNP C9orf43 ENST00000288462 human ensembl 74_37 +1 known missense c.1325 p.L442R 0.974 NULL NULL - no_errors C9orf43 HGNC ENSG00000157653 70 0 0 80 7 8.04598 BRINP1 0 genome.wustl.edu 37 9 121929578 121929578 + Silent SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 9 121929578 121929578 C T SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known silent c.2070 p.S690 0.059 NULL pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 139 1 0.714286 179 10 5.29101 TTLL11 0 genome.wustl.edu 37 9 124751548 124751548 + Missense_Mutation SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 9 124751548 124751548 C T SNP TTLL11 ENST00000321582 human ensembl 74_37 -1 known missense c.1465 p.A489T 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL11 HGNC ENSG00000175764 116 0 0 121 7 5.46875 TTLL11 0 genome.wustl.edu 37 9 124751858 124751858 + Missense_Mutation SNP C C G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 9 124751858 124751858 C G SNP TTLL11 ENST00000321582 human ensembl 74_37 -1 known missense c.1155 p.K385N 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL11 HGNC ENSG00000175764 95 0 0 105 8 7.07965 SLC27A4 0 genome.wustl.edu 37 9 131117714 131117714 + Nonsense_Mutation SNP C C A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 9 131117714 131117714 C A SNP SLC27A4 ENST00000300456 human ensembl 74_37 +1 known nonsense c.1500 p.Y500* 0.991 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A4 HGNC ENSG00000167114 48 0 0 35 10 22.2222 ADAMTSL1 0 genome.wustl.edu 37 9 18776993 18776993 + Silent SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 9 18776993 18776993 G A SNP ADAMTSL1 ENST00000380548 human ensembl 74_37 +1 novel silent c.2766 p.T922 0.035 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors ADAMTSL1 HGNC ENSG00000178031 70 0 0 55 28 33.7349 MAMDC2 0 genome.wustl.edu 37 9 72783642 72783642 + Missense_Mutation SNP A A T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 9 72783642 72783642 A T SNP MAMDC2 ENST00000377182 human ensembl 74_37 +1 known missense c.1429 p.S477C 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom - no_errors MAMDC2 HGNC ENSG00000165072 79 0 0 65 26 28.5714 PTPRD 0 genome.wustl.edu 37 9 8436611 8436611 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 9 8436611 8436611 T G SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.4067 p.K1356T 1.000 smart_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 60 0 0 45 27 37.5 ZMAT1 0 genome.wustl.edu 37 X 101139416 101139416 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 101139416 101139416 T C SNP ZMAT1 ENST00000372782 human ensembl 74_37 -1 known missense c.983 p.K328R 0.153 superfamily_Asn/Gln_tRNA_amidoTrfrase-rel superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT1 HGNC ENSG00000166432 174 0 0 136 32 19.0476 PSMD10 0 genome.wustl.edu 37 X 107331217 107331217 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 107331217 107331217 G A SNP PSMD10 ENST00000217958 human ensembl 74_37 -1 known missense c.326 p.P109L 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PSMD10 HGNC ENSG00000101843 236 0 0 173 32 15.6098 ALG13 0 genome.wustl.edu 37 X 110951264 110951264 + Silent SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 110951264 110951264 T G SNP ALG13 ENST00000251943 human ensembl 74_37 +1 known silent c.81 p.T27 0.007 NULL pfam_OTU,pfscan_OTU,pfscan_Tudor - no_errors ALG13 HGNC ENSG00000101901 24 0 0 28 7 20 ZCCHC16 0 genome.wustl.edu 37 X 111698541 111698541 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 111698541 111698541 A C SNP ZCCHC16 ENST00000340433 human ensembl 74_37 +1 known missense c.585 p.E195D 0.071 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC16 HGNC ENSG00000187823 128 0 0 125 24 16.1074 IL13RA2 0 genome.wustl.edu 37 X 114238661 114238661 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 114238661 114238661 T G SNP IL13RA2 ENST00000243213 human ensembl 74_37 -1 known missense c.1125 p.E375D 0.000 NULL pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL13RA2 HGNC ENSG00000123496 46 0 0 30 4 11.7647 NKAP 0 genome.wustl.edu 37 X 119068469 119068469 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 119068469 119068469 T G SNP NKAP ENST00000371410 human ensembl 74_37 -1 known missense c.725 p.K242T 0.829 NULL pfam_DUF926 - no_errors NKAP HGNC ENSG00000101882 85 0 0 55 6 9.83607 THOC2 0 genome.wustl.edu 37 X 122769999 122769999 + Missense_Mutation SNP A A T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 122769999 122769999 A T SNP THOC2 ENST00000245838 human ensembl 74_37 -1 known missense c.1949 p.F650Y 1.000 NULL pfam_THO_THOC2_C,pfam_THO_THOC2_N - no_errors THOC2 HGNC ENSG00000125676 73 0 0 54 16 22.8571 TENM1 0 genome.wustl.edu 37 X 123556129 123556129 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 123556129 123556129 A C SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.4464 p.C1488W 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 111 0 0 93 24 20.5128 GPR112 0 genome.wustl.edu 37 X 135427928 135427928 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 135427928 135427928 A G SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.2063 p.E688G 0.002 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 113 0 0 89 17 16.0377 FGF13 0 genome.wustl.edu 37 X 137717662 137717662 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 137717662 137717662 T G SNP FGF13 ENST00000370603 human ensembl 74_37 -1 known missense c.587 p.K196T 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam - no_errors FGF13 HGNC ENSG00000129682 167 0 0 129 38 22.7545 ATP11C 0 genome.wustl.edu 37 X 138828012 138828012 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 138828012 138828012 T C SNP ATP11C ENST00000327569 human ensembl 74_37 -1 known missense c.2842 p.I948V 1.000 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11C HGNC ENSG00000101974 85 0 0 66 16 19.5122 SLITRK2 0 genome.wustl.edu 37 X 144906229 144906229 + Silent SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 144906229 144906229 A G SNP SLITRK2 ENST00000370490 human ensembl 74_37 +1 known silent c.2286 p.R762 0.522 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 253 2 0.784314 210 36 14.6341 FMR1 0 genome.wustl.edu 37 X 147011719 147011719 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 147011719 147011719 T G SNP FMR1 ENST00000370475 human ensembl 74_37 +1 known missense c.586 p.L196V 1.000 NULL pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FMR1 HGNC ENSG00000102081 111 0 0 99 15 13.1579 AFF2 0 genome.wustl.edu 37 X 147744022 147744022 + Missense_Mutation SNP A A T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 147744022 147744022 A T SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.774 p.L258F 0.960 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 214 0 0 169 32 15.9204 MOSPD2 0 genome.wustl.edu 37 X 14913459 14913459 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 14913459 14913459 T G SNP MOSPD2 ENST00000380492 human ensembl 74_37 +1 known missense c.265 p.L89V 0.999 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_MSP_dom,superfamily_CRAL-TRIO_dom,superfamily_PapD-like,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_MSP_dom - no_errors MOSPD2 HGNC ENSG00000130150 214 0 0 151 23 13.2184 PASD1 0 genome.wustl.edu 37 X 150844474 150844474 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 150844474 150844474 A C SNP PASD1 ENST00000370357 human ensembl 74_37 +1 known missense c.2181 p.Q727H 0.000 NULL superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 227 0 0 164 32 16.3265 FATE1 0 genome.wustl.edu 37 X 150885864 150885864 + Missense_Mutation SNP A A T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 150885864 150885864 A T SNP FATE1 ENST00000370350 human ensembl 74_37 +1 known missense c.227 p.K76M 0.001 pfam_FATE/Miff/Tango-11 pfam_FATE/Miff/Tango-11 - no_errors FATE1 HGNC ENSG00000147378 158 1 0.628931 134 16 10.6667 MAGEA10 0 genome.wustl.edu 37 X 151304051 151304051 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 151304051 151304051 T G SNP MAGEA10 ENST00000244096 human ensembl 74_37 -1 known missense c.42 p.E14D 0.002 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA10 HGNC ENSG00000124260 158 0 0 124 24 16.2162 GABRA3 0 genome.wustl.edu 37 X 151393246 151393246 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 151393246 151393246 T C SNP GABRA3 ENST00000370314 human ensembl 74_37 -1 known missense c.623 p.K208R 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa3_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA3 HGNC ENSG00000011677 98 0 0 77 13 14.4444 GDI1 0 genome.wustl.edu 37 X 153666940 153666940 + Silent SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 153666940 153666940 C T SNP GDI1 ENST00000447750 human ensembl 74_37 +1 known silent c.117 p.Y39 0.934 pfam_GDP_dissociation_inhibitor,prints_GDP_dissociation_inhibitor pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor - no_errors GDI1 HGNC ENSG00000203879 106 0 0 95 12 11.215 MXRA5 0 genome.wustl.edu 37 X 3240515 3240515 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 3240515 3240515 T G SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.3211 p.N1071H 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 99 0 0 82 15 15.4639 CXorf36 0 genome.wustl.edu 37 X 45060041 45060041 + Missense_Mutation SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 45060041 45060041 C T SNP CXorf36 ENST00000398000 human ensembl 74_37 -1 known missense c.31 p.A11T 0.000 NULL NULL - no_errors CXorf36 HGNC ENSG00000147113 14 0 0 14 4 22.2222 ZNF182 0 genome.wustl.edu 37 X 47836329 47836329 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 47836329 47836329 T G SNP ZNF182 ENST00000305127 human ensembl 74_37 -1 known missense c.1157 p.K386T 0.102 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF182 HGNC ENSG00000147118 138 0 0 105 15 12.5 SUV39H1 0 genome.wustl.edu 37 X 48559088 48559088 + Missense_Mutation SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 48559088 48559088 G A SNP SUV39H1 ENST00000337852 human ensembl 74_37 +1 known missense c.805 p.V269I 1.000 pfam_SET_dom,smart_SET_dom,pirsf_Histone_H3-K9_MeTrfase,pfscan_SET_dom pfam_SET_dom,pfam_Pre-SET_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,smart_Post-SET_dom,pirsf_Histone_H3-K9_MeTrfase,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom,pfscan_Chromo_domain/shadow - no_errors SUV39H1 HGNC ENSG00000101945 54 0 0 61 7 10.2941 CCNB3 0 genome.wustl.edu 37 X 50090646 50090646 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 50090646 50090646 A G SNP CCNB3 ENST00000276014 human ensembl 74_37 +1 known missense c.3832 p.T1278A 1.000 pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 66 0 0 71 5 6.57895 PHF8 0 genome.wustl.edu 37 X 54037563 54037563 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 54037563 54037563 A G SNP PHF8 ENST00000357988 human ensembl 74_37 -1 known missense c.1046 p.I349T 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF8 HGNC ENSG00000172943 77 0 0 51 11 17.7419 GNL3L 0 genome.wustl.edu 37 X 54578117 54578117 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 54578117 54578117 A C SNP GNL3L ENST00000336470 human ensembl 74_37 +1 known missense c.980 p.K327T 1.000 NULL pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors GNL3L HGNC ENSG00000130119 61 0 0 53 10 15.873 ITIH6 0 genome.wustl.edu 37 X 54783779 54783779 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 54783779 54783779 T C SNP ITIH6 ENST00000218436 human ensembl 74_37 -1 known missense c.2728 p.S910G 0.001 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC ENSG00000102313 100 0 0 94 8 7.84314 TRO 0 genome.wustl.edu 37 X 54951444 54951444 + Silent SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 54951444 54951444 A G SNP TRO ENST00000173898 human ensembl 74_37 +1 known silent c.1428 p.Q476 1.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 38 0 0 27 8 22.8571 APEX2 0 genome.wustl.edu 37 X 55033430 55033430 + Silent SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 55033430 55033430 A G SNP APEX2 ENST00000374987 human ensembl 74_37 +1 known silent c.1119 p.Q373 0.000 NULL pfam_Endo/exonuclease/phosphatase,pfam_Znf_GRF,superfamily_Endo/exonuclease/phosphatase,tigrfam_AP_endonuc_1 - no_errors APEX2 HGNC ENSG00000169188 49 0 0 56 9 13.8462 NLGN4X 0 genome.wustl.edu 37 X 5821156 5821156 + Silent SNP G G A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 5821156 5821156 G A SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known silent c.1623 p.A541 0.204 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 94 0 0 95 15 13.6364 NLGN4X 0 genome.wustl.edu 37 X 6069148 6069148 + Silent SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 6069148 6069148 C T SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known silent c.360 p.L120 0.027 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 146 0 0 109 15 12.0968 NLGN4X 0 genome.wustl.edu 37 X 6069402 6069402 + Missense_Mutation SNP A A C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 6069402 6069402 A C SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known missense c.106 p.F36V 0.104 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 101 0 0 97 16 14.1593 AMER1 0 genome.wustl.edu 37 X 63411809 63411809 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 63411809 63411809 A G SNP AMER1 ENST00000330258 human ensembl 74_37 -1 known missense c.1358 p.L453P 0.980 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors AMER1 HGNC ENSG00000184675 83 0 0 77 10 11.4943 PJA1 0 genome.wustl.edu 37 X 68381908 68381908 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 68381908 68381908 T C SNP PJA1 ENST00000361478 human ensembl 74_37 -1 known missense c.1174 p.S392G 0.950 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA1 HGNC ENSG00000181191 61 0 0 56 10 15.1515 TAF1 0 genome.wustl.edu 37 X 70598122 70598122 + Missense_Mutation SNP A A T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 70598122 70598122 A T SNP TAF1 ENST00000449580 human ensembl 74_37 +1 known missense c.968 p.Q323L 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 89 0 0 61 10 14.0845 PGK1 0 genome.wustl.edu 37 X 77380399 77380399 + Missense_Mutation SNP A A G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 77380399 77380399 A G SNP PGK1 ENST00000373316 human ensembl 74_37 +1 known missense c.965 p.K322R 1.000 pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase - no_errors PGK1 HGNC ENSG00000102144 101 0 0 90 16 15.0943 P2RY10 0 genome.wustl.edu 37 X 78216571 78216571 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 78216571 78216571 T C SNP P2RY10 ENST00000171757 human ensembl 74_37 +1 known missense c.554 p.L185P 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors P2RY10 HGNC ENSG00000078589 80 0 0 58 16 21.6216 BRWD3 0 genome.wustl.edu 37 X 79999493 79999493 + RNA SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 79999493 79999493 T G SNP BRWD3 ENST00000478415 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors BRWD3 HGNC ENSG00000165288 27 0 0 19 8 29.6296 CHM 0 genome.wustl.edu 37 X 85211343 85211343 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 85211343 85211343 T G SNP CHM ENST00000357749 human ensembl 74_37 -1 known missense c.981 p.Q327H 1.000 pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHM HGNC ENSG00000188419 37 0 0 46 8 14.8148 FAM9A 0 genome.wustl.edu 37 X 8763146 8763146 + Missense_Mutation SNP T T G TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 8763146 8763146 T G SNP FAM9A ENST00000381003 human ensembl 74_37 -1 known missense c.804 p.E268D 0.017 NULL NULL - no_errors FAM9A HGNC ENSG00000183304 23 0 0 18 4 18.1818 PABPC5 0 genome.wustl.edu 37 X 90691203 90691203 + Silent SNP C C T TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 90691203 90691203 C T SNP PABPC5 ENST00000312600 human ensembl 74_37 +1 known silent c.627 p.D209 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC5 HGNC ENSG00000174740 63 0 0 61 14 18.6667 PCDH19 0 genome.wustl.edu 37 X 99663303 99663303 + Missense_Mutation SNP T T C TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb X 99663303 99663303 T C SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known missense c.293 p.K98R 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 117 0 0 114 23 16.7883 COL11A1 0 genome.wustl.edu 37 1 103491428 103491428 + Frame_Shift_Del DEL G G - TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 1 103491428 103491428 G - DEL COL11A1 ENST00000358392 human ensembl 74_37 -1 known frame_shift_del c.861 p.K288fs 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 113 0 0 96 13 11.9266 NTNG1 0 genome.wustl.edu 37 1 107691083 107691083 + RNA DEL A A - TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 1 107691083 107691083 A - DEL NTNG1 ENST00000462149 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors NTNG1 HGNC ENSG00000162631 22 0 0 17 3 15 C11orf48 0 genome.wustl.edu 37 11 62430750 62430752 + In_Frame_Del DEL GGA GGA - TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 11 62430750 62430752 GGA - DEL C11orf48 ENST00000431002 human ensembl 74_37 -1 known in_frame_del c.797_795 p.P266in_frame_del 1.000:1.000:1.000 NULL NULL - no_errors C11orf48 HGNC ENSG00000162194 88 0 0 53 13 19.697 HCRT 0 genome.wustl.edu 37 17 40336501 40336503 + In_Frame_Del DEL GCA GCA - TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 17 40336501 40336503 GCA - DEL HCRT ENST00000293330 human ensembl 74_37 -1 known in_frame_del c.67_65 p.L22in_frame_del 0.998:0.999:1.000 pfam_Orexin,pirsf_Orexin pfam_Orexin,pirsf_Orexin,prints_Orexin - no_errors HCRT HGNC ENSG00000161610 15 0 0 17 2 10.5263 PSG2 0 genome.wustl.edu 37 19 43579745 43579745 + Frame_Shift_Del DEL T T - TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 19 43579745 43579745 T - DEL PSG2 ENST00000406487 human ensembl 74_37 -1 known frame_shift_del c.470 p.N157fs 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG2 HGNC ENSG00000242221 324 0 0 308 42 12 OR7E24 0 genome.wustl.edu 37 19 9361741 9361741 + Frame_Shift_Del DEL T T - TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 19 9361741 9361741 T - DEL OR7E24 ENST00000456448 human ensembl 74_37 +1 known frame_shift_del c.22 p.F11fs 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7E24 HGNC ENSG00000237521 13 0 0 13 5 27.7778 CASP8 0 genome.wustl.edu 37 2 202150023 202150024 + Frame_Shift_Del DEL GA GA - TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 202150023 202150024 GA - DEL CASP8 ENST00000358485 human ensembl 74_37 +1 known frame_shift_del c.1464_1465 p.E490fs 0.655:0.629 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10 pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP8 HGNC ENSG00000064012 88 0 0 72 12 14.2857 KANSL1L 0 genome.wustl.edu 37 2 210887680 210887680 + Frame_Shift_Del DEL T T - TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 210887680 210887680 T - DEL KANSL1L ENST00000281772 human ensembl 74_37 -1 known frame_shift_del c.2957 p.N986fs 0.980 NULL NULL - no_errors KANSL1L HGNC ENSG00000144445 48 0 0 42 5 10.6383 TAF1B 0 genome.wustl.edu 37 2 9989570 9989571 + Frame_Shift_Ins INS - - A TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 2 9989570 9989571 - A INS TAF1B ENST00000263663 human ensembl 74_37 +1 known frame_shift_ins c.186_187 p.N65fs 0.992:0.991 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 14 0 0 9 2 18.1818 COL1A2 0 genome.wustl.edu 37 7 94057067 94057068 + Frame_Shift_Ins INS - - TATGA TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 7 94057067 94057068 - TATGA INS COL1A2 ENST00000297268 human ensembl 74_37 +1 known frame_shift_ins c.3396_3397 p.E1133fs 0.645:0.994 smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 84 0 0 84 5 5.61798 FAM135B 0 genome.wustl.edu 37 8 139165017 139165017 + Frame_Shift_Del DEL T T - TCGA-D7-A4Z0-01A-22D-A25D-08 TCGA-D7-A4Z0-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 75d90dfc-06ac-4725-887b-6dcca9eadd6b ec32faed-705c-4247-9ebb-518ce17cdafb 8 139165017 139165017 T - DEL FAM135B ENST00000395297 human ensembl 74_37 -1 known frame_shift_del c.1701 p.E567fs 0.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 122 0 0 158 19 10.7345