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 OLFM3 0 genome.wustl.edu 37 1 102290763 102290763 + Silent SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 102290763 102290763 G A SNP OLFM3 ENST00000338858 human ensembl 74_37 -1 known silent c.471 p.I157 1.000 superfamily_Quino_amine_DH_bsu pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM3 HGNC ENSG00000118733 46 0 0 56 8 12.5 PRAMEF6 0 genome.wustl.edu 37 1 13001288 13001288 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 13001288 13001288 T G SNP PRAMEF6 ENST00000355096 human ensembl 74_37 -1 known missense c.395 p.K132T 0.000 NULL NULL - no_errors PRAMEF6 HGNC ENSG00000232423 901 0 0 610 112 15.5125 LCE2B 0 genome.wustl.edu 37 1 152659494 152659494 + Missense_Mutation SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 152659494 152659494 A G SNP LCE2B ENST00000368780 human ensembl 74_37 +1 known missense c.175 p.S59G 0.971 NULL NULL - no_errors LCE2B HGNC ENSG00000159455 259 2 0.766284 211 37 14.9194 IVL 0 genome.wustl.edu 37 1 152882716 152882716 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 152882716 152882716 A C SNP IVL ENST00000368764 human ensembl 74_37 +1 known missense c.443 p.K148T 0.000 NULL pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 62 0 0 43 16 27.1186 C1orf43 0 genome.wustl.edu 37 1 154179928 154179928 + RNA SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 154179928 154179928 G A SNP C1orf43 ENST00000483282 human ensembl 74_37 -1 known rna NULL NULL 0.019 - - - no_errors C1orf43 HGNC ENSG00000143612 169 0 0 154 26 14.4444 ARHGEF11 0 genome.wustl.edu 37 1 156921411 156921411 + Nonsense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 156921411 156921411 G A SNP ARHGEF11 ENST00000368194 human ensembl 74_37 -1 known nonsense c.1879 p.R627* 1.000 NULL pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,pfam_RGS_dom,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 118 0 0 103 27 20.7692 CD5L 0 genome.wustl.edu 37 1 157804351 157804351 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 157804351 157804351 T G SNP CD5L ENST00000368174 human ensembl 74_37 -1 known missense c.564 p.Q188H 0.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD5L HGNC ENSG00000073754 75 0 0 89 21 19.0909 CD1D 0 genome.wustl.edu 37 1 158151963 158151963 + Missense_Mutation SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 158151963 158151963 T C SNP CD1D ENST00000368171 human ensembl 74_37 +1 known missense c.470 p.L157P 0.000 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 248 0 0 242 60 19.8675 OR10Z1 0 genome.wustl.edu 37 1 158576362 158576362 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 158576362 158576362 T G SNP OR10Z1 ENST00000361284 human ensembl 74_37 +1 known missense c.134 p.I45S 0.959 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 OR10Z1 HGNC ENSG00000198967 224 0 0 220 50 18.5185 OR10Z1 0 genome.wustl.edu 37 1 158576477 158576477 + Silent SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 158576477 158576477 T C SNP OR10Z1 ENST00000361284 human ensembl 74_37 +1 known silent c.249 p.S83 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 OR10Z1 HGNC ENSG00000198967 274 0 0 307 57 15.6593 SPTA1 0 genome.wustl.edu 37 1 158651366 158651366 + Missense_Mutation SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 158651366 158651366 T C SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.482 p.Q161R 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 243 0 0 234 52 18.1818 IFI16 0 genome.wustl.edu 37 1 159023489 159023489 + Missense_Mutation SNP G G C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 159023489 159023489 G C SNP IFI16 ENST00000295809 human ensembl 74_37 +1 known missense c.2252 p.R751T 0.774 pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 63 0 0 95 8 7.76699 OR10J5 0 genome.wustl.edu 37 1 159504971 159504971 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 159504971 159504971 G A SNP OR10J5 ENST00000334857 human ensembl 74_37 -1 known missense c.827 p.T276M 0.988 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 OR10J5 HGNC ENSG00000184155 80 0 0 60 18 23.0769 LRRC52 0 genome.wustl.edu 37 1 165514020 165514020 + Nonsense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 165514020 165514020 C T SNP LRRC52 ENST00000294818 human ensembl 74_37 +1 known nonsense c.487 p.Q163* 0.985 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC52 HGNC ENSG00000162763 193 0 0 182 52 22.2222 PAPPA2 0 genome.wustl.edu 37 1 176668476 176668476 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 176668476 176668476 T G SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.2987 p.L996R 1.000 superfamily_Fibronectin_type3 pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 257 1 0.387597 254 33 11.4983 PAPPA2 0 genome.wustl.edu 37 1 176708800 176708800 + Missense_Mutation SNP T T A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 176708800 176708800 T A SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.3837 p.F1279L 0.164 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 65 0 0 89 9 9.18367 HMCN1 0 genome.wustl.edu 37 1 186072686 186072686 + Silent SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 186072686 186072686 T G SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.10656 p.A3552 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 87 0 0 88 5 5.37634 KCNT2 0 genome.wustl.edu 37 1 196227454 196227454 + Silent SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 196227454 196227454 T C SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known silent c.3081 p.K1027 0.984 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 86 0 0 88 20 18.5185 KCNT2 0 genome.wustl.edu 37 1 196251449 196251449 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 196251449 196251449 A C SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.2735 p.L912R 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 56 0 0 94 10 9.61538 CFHR4 0 genome.wustl.edu 37 1 196887413 196887413 + Nonsense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 196887413 196887413 T G SNP CFHR4 ENST00000367416 human ensembl 74_37 +1 known nonsense c.1611 p.Y537* 0.023 superfamily_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR4 HGNC ENSG00000134365 83 0 0 75 23 23.4694 F13B 0 genome.wustl.edu 37 1 197021923 197021923 + Missense_Mutation SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 197021923 197021923 T C SNP F13B ENST00000367412 human ensembl 74_37 -1 known missense c.1396 p.I466V 0.999 superfamily_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors F13B HGNC ENSG00000143278 98 0 0 105 29 21.6418 PLA2G2C 0 genome.wustl.edu 37 1 20490553 20490553 + Silent SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 20490553 20490553 G A SNP PLA2G2C ENST00000247992 human ensembl 74_37 -1 known silent c.384 p.P128 1.000 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors PLA2G2C HGNC ENSG00000187980 43 0 0 22 11 33.3333 USH2A 0 genome.wustl.edu 37 1 215824071 215824071 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 215824071 215824071 C T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.14206 p.E4736K 0.998 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 189 0 0 162 50 23.5849 USH2A 0 genome.wustl.edu 37 1 216258110 216258110 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 216258110 216258110 T G SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.5097 p.Q1699H 0.591 superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,pfscan_Laminin_G pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 109 0 0 133 25 15.8228 PSEN2 0 genome.wustl.edu 37 1 227081737 227081737 + Missense_Mutation SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 227081737 227081737 A G SNP PSEN2 ENST00000391872 human ensembl 74_37 +1 known missense c.1201 p.I401V 1.000 pfam_Peptidase_A22A,smart_Preselin/SPP pfam_Peptidase_A22A,smart_Preselin/SPP,prints_Pept_A22A_PS2,prints_Peptidase_A22A - no_errors PSEN2 HGNC ENSG00000143801 126 0 0 107 19 15.0794 FMN2 0 genome.wustl.edu 37 1 240555817 240555817 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 240555817 240555817 T G SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.4865 p.I1622S 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 115 0 0 120 20 14.2857 OR2AK2 0 genome.wustl.edu 37 1 248129071 248129071 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 248129071 248129071 T G SNP OR2AK2 ENST00000366480 human ensembl 74_37 +1 known missense c.438 p.H146Q 0.062 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 OR2AK2 HGNC ENSG00000187080 207 1 0.480769 250 56 18.3007 OR2AK2 0 genome.wustl.edu 37 1 248129218 248129218 + Silent SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 248129218 248129218 A G SNP OR2AK2 ENST00000366480 human ensembl 74_37 +1 known silent c.585 p.E195 0.002 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 OR2AK2 HGNC ENSG00000187080 71 0 0 68 12 15 OR2M5 0 genome.wustl.edu 37 1 248309375 248309375 + Missense_Mutation SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 248309375 248309375 A G SNP OR2M5 ENST00000366476 human ensembl 74_37 +1 known missense c.926 p.K309R 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M5 HGNC ENSG00000162727 46 0 0 77 10 11.4943 OR2M2 0 genome.wustl.edu 37 1 248343833 248343833 + Silent SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 248343833 248343833 T G SNP OR2M2 ENST00000359682 human ensembl 74_37 +1 known silent c.546 p.P182 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M2 HGNC ENSG00000198601 269 0 0 327 65 16.5816 OR2M7 0 genome.wustl.edu 37 1 248487102 248487102 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 248487102 248487102 A C SNP OR2M7 ENST00000317965 human ensembl 74_37 -1 known missense c.769 p.F257V 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M7 HGNC ENSG00000177186 164 0 0 187 20 9.66184 OR2T4 0 genome.wustl.edu 37 1 248525883 248525883 + Missense_Mutation SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 248525883 248525883 A G SNP OR2T4 ENST00000366475 human ensembl 74_37 +1 known missense c.1001 p.K334R 0.536 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T4 HGNC ENSG00000196944 186 0 0 161 21 11.5385 OR2T3 0 genome.wustl.edu 37 1 248637137 248637137 + Missense_Mutation SNP G G T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 248637137 248637137 G T SNP OR2T3 ENST00000359594 human ensembl 74_37 +1 known missense c.486 p.L162F 0.016 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 OR2T3 HGNC ENSG00000196539 75 0 0 60 5 7.69231 MACF1 0 genome.wustl.edu 37 1 39907918 39907918 + Missense_Mutation SNP G G C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 1 39907918 39907918 G C SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.12697 p.D4233H 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 64 0 0 36 15 29.4118 CCDC172 0 genome.wustl.edu 37 10 118116988 118116988 + Missense_Mutation SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 10 118116988 118116988 T C SNP CCDC172 ENST00000333254 human ensembl 74_37 +1 known missense c.545 p.L182P 1.000 NULL NULL - no_errors CCDC172 HGNC ENSG00000182645 20 0 0 12 3 20 EIF3A 0 genome.wustl.edu 37 10 120796691 120796691 + Nonsense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 10 120796691 120796691 G A SNP EIF3A ENST00000369144 human ensembl 74_37 -1 known nonsense c.3859 p.R1287* 0.992 NULL pfam_PCI_dom,smart_PCI_dom - no_errors EIF3A HGNC ENSG00000107581 204 0 0 124 61 32.973 CUBN 0 genome.wustl.edu 37 10 17113494 17113494 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 10 17113494 17113494 T G SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.2556 p.Q852H 0.173 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 80 0 0 57 11 16.1765 GPR158 0 genome.wustl.edu 37 10 25684866 25684866 + Silent SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 10 25684866 25684866 C T SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known silent c.1035 p.F345 0.990 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 39 0 0 34 9 20.9302 ANKRD30A 0 genome.wustl.edu 37 10 37486355 37486355 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 10 37486355 37486355 A C SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.2495 p.K832T 0.002 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 139 0 0 96 10 9.43396 ANKRD30A 0 genome.wustl.edu 37 10 37505169 37505169 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 10 37505169 37505169 T G SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.2762 p.L921R 0.734 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 59 0 0 49 21 30 HSD17B7P2 0 genome.wustl.edu 37 10 38654432 38654432 + RNA SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 10 38654432 38654432 A G SNP HSD17B7P2 ENST00000494540 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSD17B7P2 HGNC ENSG00000099251 58 0 0 60 4 6.25 ZNF33B 0 genome.wustl.edu 37 10 43088461 43088461 + Missense_Mutation SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 10 43088461 43088461 A G SNP ZNF33B ENST00000359467 human ensembl 74_37 -1 known missense c.1937 p.F646S 0.927 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 ZNF33B HGNC ENSG00000196693 96 0 0 154 14 8.33333 HTR7 0 genome.wustl.edu 37 10 92508669 92508669 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 10 92508669 92508669 G A SNP HTR7 ENST00000336152 human ensembl 74_37 -1 known missense c.1222 p.R408W 1.000 prints_5HT_7_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors HTR7 HGNC ENSG00000148680 225 0 0 115 26 18.4397 MUC15 0 genome.wustl.edu 37 11 26582734 26582734 + Missense_Mutation SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 11 26582734 26582734 T C SNP MUC15 ENST00000436318 human ensembl 74_37 -1 known missense c.964 p.S322G 0.913 NULL NULL - no_errors MUC15 HGNC ENSG00000169550 29 0 0 25 11 30.5556 DCDC1 0 genome.wustl.edu 37 11 31327864 31327864 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 11 31327864 31327864 A C SNP DCDC1 ENST00000452803 human ensembl 74_37 -1 known missense c.506 p.L169R 0.001 NULL pfscan_Doublecortin_dom - no_errors DCDC1 HGNC ENSG00000170959 47 0 0 24 9 27.2727 UBQLNL 0 genome.wustl.edu 37 11 5536964 5536964 + Silent SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 11 5536964 5536964 T C SNP UBQLNL ENST00000380184 human ensembl 74_37 -1 putative silent c.708 p.Q236 0.997 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors UBQLNL HGNC ENSG00000175518 177 0 0 85 45 34.6154 OR4C6 0 genome.wustl.edu 37 11 55433005 55433005 + Silent SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 11 55433005 55433005 C T SNP OR4C6 ENST00000314259 human ensembl 74_37 +1 known silent c.363 p.Y121 0.895 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 OR4C6 HGNC ENSG00000181903 96 0 0 46 15 24.5902 OR5L2 0 genome.wustl.edu 37 11 55594726 55594726 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 11 55594726 55594726 A C SNP OR5L2 ENST00000378397 human ensembl 74_37 +1 known missense c.32 p.E11A 0.020 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L2 HGNC ENSG00000205030 244 0 0 115 50 30.303 OR5D16 0 genome.wustl.edu 37 11 55606858 55606858 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 11 55606858 55606858 A C SNP OR5D16 ENST00000378396 human ensembl 74_37 +1 known missense c.631 p.S211R 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D16 HGNC ENSG00000205029 124 0 0 67 23 25.5556 OR5F1 0 genome.wustl.edu 37 11 55762007 55762007 + Missense_Mutation SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 11 55762007 55762007 A G SNP OR5F1 ENST00000278409 human ensembl 74_37 -1 known missense c.95 p.L32P 0.001 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5F1 HGNC ENSG00000149133 50 0 0 33 15 31.25 OR8K1 0 genome.wustl.edu 37 11 56113544 56113544 + Silent SNP G G C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 11 56113544 56113544 G C SNP OR8K1 ENST00000279783 human ensembl 74_37 +1 known silent c.30 p.T10 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K1 HGNC ENSG00000150261 45 0 0 32 14 30.4348 OR5M10 0 genome.wustl.edu 37 11 56345194 56345194 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 11 56345194 56345194 A C SNP OR5M10 ENST00000526812 human ensembl 74_37 -1 known missense c.4 p.L2V 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M10 HGNC ENSG00000254834 87 0 0 39 16 29.0909 DCHS1 0 genome.wustl.edu 37 11 6646065 6646065 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 11 6646065 6646065 G A SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known missense c.7181 p.A2394V 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 42 0 0 13 6 31.5789 OLR1 0 genome.wustl.edu 37 12 10313422 10313422 + Missense_Mutation SNP T T A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 12 10313422 10313422 T A SNP OLR1 ENST00000309539 human ensembl 74_37 -1 known missense c.527 p.D176V 0.991 pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors OLR1 HGNC ENSG00000173391 186 0 0 72 64 47.0588 KLRC2 0 genome.wustl.edu 37 12 10584760 10584760 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 12 10584760 10584760 G A SNP KLRC2 ENST00000381901 human ensembl 74_37 -1 known missense c.529 p.R177C 0.002 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRC2 HGNC ENSG00000205809 55 0 0 29 7 19.4444 RECQL 0 genome.wustl.edu 37 12 21627837 21627837 + Silent SNP C C A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 12 21627837 21627837 C A SNP RECQL ENST00000421138 human ensembl 74_37 -1 known silent c.1293 p.V431 1.000 pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC ENSG00000004700 79 0 0 50 19 27.5362 TPH2 0 genome.wustl.edu 37 12 72332847 72332847 + Silent SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 12 72332847 72332847 G A SNP TPH2 ENST00000333850 human ensembl 74_37 +1 known silent c.81 p.E27 0.994 pirsf_Tyrosine_3-monooxygenase-like pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH2 HGNC ENSG00000139287 53 0 0 43 11 20.3704 TRHDE 0 genome.wustl.edu 37 12 72969063 72969063 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 12 72969063 72969063 A C SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known missense c.2025 p.K675N 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 50 0 0 52 6 10.3448 GLIPR1L2 0 genome.wustl.edu 37 12 75804385 75804385 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 12 75804385 75804385 A C SNP GLIPR1L2 ENST00000550916 human ensembl 74_37 +1 known missense c.406 p.S136R 1.000 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors GLIPR1L2 HGNC ENSG00000180481 64 0 0 60 18 23.0769 TUBA3C 0 genome.wustl.edu 37 13 19748138 19748138 + Missense_Mutation SNP G G C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 13 19748138 19748138 G C SNP TUBA3C ENST00000400113 human ensembl 74_37 -1 known missense c.1218 p.H406Q 1.000 superfamily_Tub_FtsZ_C,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3C HGNC ENSG00000198033 202 0 0 123 12 8.88889 LACC1 0 genome.wustl.edu 37 13 44455464 44455464 + Missense_Mutation SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 13 44455464 44455464 A G SNP LACC1 ENST00000325686 human ensembl 74_37 +1 known missense c.343 p.M115V 0.905 NULL pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat - no_errors LACC1 HGNC ENSG00000179630 59 0 0 10 31 75.6098 KIAA0226L 0 genome.wustl.edu 37 13 46946153 46946153 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 13 46946153 46946153 A C SNP KIAA0226L ENST00000389908 human ensembl 74_37 -1 known missense c.458 p.I153S 0.000 NULL NULL - no_errors KIAA0226L HGNC ENSG00000102445 69 0 0 50 7 12.2807 TECPR2 0 genome.wustl.edu 37 14 102910107 102910107 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 14 102910107 102910107 G A SNP TECPR2 ENST00000359520 human ensembl 74_37 +1 known missense c.2876 p.R959Q 1.000 pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_RCC1/BLIP-II,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC ENSG00000196663 49 0 0 25 8 24.2424 OR4M1 0 genome.wustl.edu 37 14 20248567 20248567 + Missense_Mutation SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 14 20248567 20248567 T C SNP OR4M1 ENST00000315957 human ensembl 74_37 +1 known missense c.86 p.V29A 0.991 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M1 HGNC ENSG00000176299 350 0 0 265 20 7.01754 OR4K5 0 genome.wustl.edu 37 14 20389631 20389631 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 14 20389631 20389631 T G SNP OR4K5 ENST00000315915 human ensembl 74_37 +1 known missense c.866 p.L289R 0.840 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K5 HGNC ENSG00000176281 256 0 0 174 35 16.7464 DHRS4L1 0 genome.wustl.edu 37 14 24505711 24505711 + RNA SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 14 24505711 24505711 T G SNP DHRS4L1 ENST00000558293 human ensembl 74_37 +1 known rna NULL NULL 0.039 - - - no_errors RP11-468E2.9 Clone_based_vega_gene ENSG00000225766 36 0 0 22 6 21.4286 NFATC4 0 genome.wustl.edu 37 14 24839461 24839461 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 14 24839461 24839461 G A SNP NFATC4 ENST00000413692 human ensembl 74_37 +1 known missense c.1046 p.R349H 1.000 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC ENSG00000100968 37 0 0 10 7 41.1765 AKAP6 0 genome.wustl.edu 37 14 33293932 33293932 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 14 33293932 33293932 A C SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known missense c.6913 p.N2305H 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 110 0 0 71 7 8.97436 TTC6 0 genome.wustl.edu 37 14 38310789 38310789 + Missense_Mutation SNP C C G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 14 38310789 38310789 C G SNP TTC6 ENST00000267368 human ensembl 74_37 +1 known missense c.1340 p.P447R 0.992 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC6 HGNC ENSG00000139865 63 0 0 39 10 20.4082 FSCB 0 genome.wustl.edu 37 14 44975262 44975262 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 14 44975262 44975262 G A SNP FSCB ENST00000340446 human ensembl 74_37 -1 known missense c.929 p.A310V 0.006 NULL NULL - no_errors FSCB HGNC ENSG00000189139 78 0 0 47 18 27.6923 RPL10L 0 genome.wustl.edu 37 14 47120380 47120380 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 14 47120380 47120380 T G SNP RPL10L ENST00000298283 human ensembl 74_37 -1 known missense c.560 p.K187T 0.188 pirsf_Ribosomal_L10e pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e - no_errors RPL10L HGNC ENSG00000165496 123 0 0 57 21 26.9231 MPP5 0 genome.wustl.edu 37 14 67790529 67790529 + Silent SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 14 67790529 67790529 G A SNP MPP5 ENST00000261681 human ensembl 74_37 +1 known silent c.1851 p.K617 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP5 HGNC ENSG00000072415 85 0 0 54 20 27.027 NRXN3 0 genome.wustl.edu 37 14 79746659 79746659 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 14 79746659 79746659 C T SNP NRXN3 ENST00000428277 human ensembl 74_37 +1 known missense c.25 p.R9W 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Neurexin-like,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 227 1 0.438596 82 31 27.4336 KCNK10 0 genome.wustl.edu 37 14 88729593 88729593 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 14 88729593 88729593 G A SNP KCNK10 ENST00000312350 human ensembl 74_37 -1 known missense c.355 p.R119W 1.000 prints_2pore_dom_K_chnl_TREK pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK10 HGNC ENSG00000100433 48 0 0 18 5 21.7391 C14orf159 0 genome.wustl.edu 37 14 91655360 91655360 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 14 91655360 91655360 T G SNP C14orf159 ENST00000256324 human ensembl 74_37 +1 known missense c.1041 p.H347Q 0.549 pirsf_UPF0317_mt pfam_DUF1445,pirsf_UPF0317_mt - no_errors C14orf159 HGNC ENSG00000133943 43 0 0 22 10 31.25 HERC2P3 0 genome.wustl.edu 37 15 20588474 20588474 + RNA SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 15 20588474 20588474 C T SNP HERC2P3 ENST00000428453 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors HERC2P3 HGNC ENSG00000180229 37 0 0 22 6 21.4286 RYR3 0 genome.wustl.edu 37 15 34028450 34028450 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 15 34028450 34028450 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.7439 p.S2480F 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 32 0 0 17 6 26.087 IGF1R 0 genome.wustl.edu 37 15 99251142 99251142 + Missense_Mutation SNP T T A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 15 99251142 99251142 T A SNP IGF1R ENST00000268035 human ensembl 74_37 +1 known missense c.446 p.L149H 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors IGF1R HGNC ENSG00000140443 117 0 0 42 26 38.2353 OTOA 0 genome.wustl.edu 37 16 21709177 21709177 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 16 21709177 21709177 C T SNP OTOA ENST00000286149 human ensembl 74_37 +1 known missense c.821 p.T274M 0.044 NULL NULL - no_errors OTOA HGNC ENSG00000155719 81 0 0 58 38 39.5833 KDM8 0 genome.wustl.edu 37 16 27226219 27226219 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 16 27226219 27226219 G A SNP KDM8 ENST00000441782 human ensembl 74_37 +1 known missense c.802 p.A268T 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM8 HGNC ENSG00000155666 116 1 0.854701 42 38 47.5 CDH11 0 genome.wustl.edu 37 16 65016134 65016134 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 16 65016134 65016134 T G SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.1070 p.K357T 0.938 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 91 0 0 73 13 15.1163 CES2 0 genome.wustl.edu 37 16 66972139 66972139 + Silent SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 16 66972139 66972139 G A SNP CES2 ENST00000317091 human ensembl 74_37 +1 known silent c.468 p.P156 0.049 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES2 HGNC ENSG00000172831 47 0 0 23 3 11.5385 KCNJ12 0 genome.wustl.edu 37 17 21318761 21318761 + Missense_Mutation SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 17 21318761 21318761 T C SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known missense c.107 p.V36A 1.000 pfam_K_chnl_inward-rec_Kir_N,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 50 0 0 36 6 14.2857 KRT28 0 genome.wustl.edu 37 17 38955754 38955754 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 17 38955754 38955754 C T SNP KRT28 ENST00000306658 human ensembl 74_37 -1 known missense c.392 p.R131H 0.899 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT28 HGNC ENSG00000173908 200 0 0 148 38 20.4301 KRTAP4-5 0 genome.wustl.edu 37 17 39305930 39305930 + Nonsense_Mutation SNP G G T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 17 39305930 39305930 G T SNP KRTAP4-5 ENST00000343246 human ensembl 74_37 -1 known nonsense c.90 p.C30* 1.000 NULL NULL - no_errors KRTAP4-5 HGNC ENSG00000198271 70 0 0 60 12 16.6667 PLCD3 0 genome.wustl.edu 37 17 43196223 43196223 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 17 43196223 43196223 C T SNP PLCD3 ENST00000322765 human ensembl 74_37 -1 known missense c.872 p.R291H 0.405 pfam_PLipase_C_EF-hand-like pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD3 HGNC ENSG00000161714 38 0 0 28 4 12.5 POTEC 0 genome.wustl.edu 37 18 14542810 14542810 + Silent SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 18 14542810 14542810 G A SNP POTEC ENST00000358970 human ensembl 74_37 -1 known silent c.336 p.S112 0.001 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 POTEC HGNC ENSG00000183206 258 0 0 151 41 21.3542 POTEC 0 genome.wustl.edu 37 18 14543009 14543009 + Missense_Mutation SNP G G C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 18 14543009 14543009 G C SNP POTEC ENST00000358970 human ensembl 74_37 -1 known missense c.137 p.S46C 0.002 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEC HGNC ENSG00000183206 338 0 0 210 36 14.6341 LAMA3 0 genome.wustl.edu 37 18 21331030 21331030 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 18 21331030 21331030 G A SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known missense c.833 p.R278Q 0.993 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 117 0 0 102 27 20.9302 ASXL3 0 genome.wustl.edu 37 18 31322938 31322938 + Silent SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 18 31322938 31322938 T C SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known silent c.3126 p.S1042 0.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 34 0 0 20 9 31.0345 DCC 0 genome.wustl.edu 37 18 51013247 51013247 + Missense_Mutation SNP C C A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 18 51013247 51013247 C A SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.3817 p.P1273T 1.000 pfam_Neogenin_C 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 126 0 0 71 22 23.6559 ACP5 0 genome.wustl.edu 37 19 11685996 11685996 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 19 11685996 11685996 C T SNP ACP5 ENST00000590420 human ensembl 74_37 -1 putative missense c.80 p.G27D 0.020 NULL NULL - no_errors ACP5 HGNC ENSG00000102575 80 0 0 48 3 5.88235 CYP4F3 0 genome.wustl.edu 37 19 15760856 15760856 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 19 15760856 15760856 C T SNP CYP4F3 ENST00000221307 human ensembl 74_37 +1 known missense c.781 p.R261C 0.421 pfam_Cyt_P450,superfamily_Cyt_P450 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 CYP4F3 HGNC ENSG00000186529 186 0 0 88 43 32.8244 KIAA1683 0 genome.wustl.edu 37 19 18376589 18376589 + Silent SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 19 18376589 18376589 A G SNP KIAA1683 ENST00000392413 human ensembl 74_37 -1 known silent c.1761 p.H587 0.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors KIAA1683 HGNC ENSG00000130518 48 0 0 51 9 15 KIAA1683 0 genome.wustl.edu 37 19 18377483 18377483 + Missense_Mutation SNP G G T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 19 18377483 18377483 G T SNP KIAA1683 ENST00000392413 human ensembl 74_37 -1 known missense c.867 p.N289K 0.005 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors KIAA1683 HGNC ENSG00000130518 163 0 0 129 39 23.2143 ZNF676 0 genome.wustl.edu 37 19 22363964 22363964 + Silent SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 19 22363964 22363964 A C SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known silent c.555 p.T185 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 88 0 0 57 29 33.7209 ZNF492 0 genome.wustl.edu 37 19 22847417 22847417 + Missense_Mutation SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 19 22847417 22847417 A G SNP ZNF492 ENST00000456783 human ensembl 74_37 +1 known missense c.946 p.K316E 0.923 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 49 0 0 28 14 33.3333 ZNF99 0 genome.wustl.edu 37 19 22940468 22940468 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 19 22940468 22940468 A C SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known missense c.1970 p.L657R 0.105 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 ZNF99 HGNC ENSG00000213973 65 0 0 37 18 32.7273 UQCRFS1 0 genome.wustl.edu 37 19 29698476 29698476 + Silent SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 19 29698476 29698476 G A SNP UQCRFS1 ENST00000304863 human ensembl 74_37 -1 known silent c.804 p.D268 0.969 superfamily_Rieske_2Fe-2S,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su pfam_Ubiqinol_cyt_c_Rdtase_N,pfam_Ubiquinol_cyt_Rdtase_TM,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_Globular_prot_asu/bsu,prints_Rieske_Fe-S_prot_C,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su - no_errors UQCRFS1 HGNC ENSG00000169021 48 0 0 36 3 7.69231 ZNF536 0 genome.wustl.edu 37 19 31040275 31040275 + Missense_Mutation SNP A A T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 19 31040275 31040275 A T SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.3749 p.K1250M 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 41 0 0 16 6 27.2727 ARHGAP33 0 genome.wustl.edu 37 19 36271381 36271381 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 19 36271381 36271381 G A SNP ARHGAP33 ENST00000007510 human ensembl 74_37 +1 known missense c.683 p.R228Q 1.000 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 38 0 0 20 6 23.0769 ZFP14 0 genome.wustl.edu 37 19 36832163 36832163 + Missense_Mutation SNP G G C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 19 36832163 36832163 G C SNP ZFP14 ENST00000270001 human ensembl 74_37 -1 known missense c.565 p.Q189E 0.005 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 ZFP14 HGNC ENSG00000142065 130 0 0 77 28 26.6667 ZNF571 0 genome.wustl.edu 37 19 38056875 38056875 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 19 38056875 38056875 G A SNP ZNF571 ENST00000328550 human ensembl 74_37 -1 known missense c.455 p.S152L 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF571 HGNC ENSG00000180479 74 0 0 31 23 42.5926 CCDC155 0 genome.wustl.edu 37 19 49918217 49918217 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 19 49918217 49918217 A C SNP CCDC155 ENST00000447857 human ensembl 74_37 +1 known missense c.1338 p.R446S 0.990 NULL NULL - no_errors CCDC155 HGNC ENSG00000161609 31 0 0 10 6 37.5 SIGLEC5 0 genome.wustl.edu 37 19 52130978 52130978 + Missense_Mutation SNP G G C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 19 52130978 52130978 G C SNP SIGLEC5 ENST00000222107 human ensembl 74_37 -1 known missense c.1019 p.P340R 0.823 NULL pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC5 HGNC ENSG00000105501 19 0 0 26 4 13.3333 FPR3 0 genome.wustl.edu 37 19 52327311 52327311 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 19 52327311 52327311 A C SNP FPR3 ENST00000339223 human ensembl 74_37 +1 known missense c.310 p.M104L 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt - no_errors FPR3 HGNC ENSG00000187474 106 0 0 91 16 14.9533 MIR519A1 0 genome.wustl.edu 37 19 54255679 54255679 + RNA SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 19 54255679 54255679 G A SNP MIR519A1 ENST00000385257 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors MIR519A1 HGNC ENSG00000207992 180 0 0 129 15 10.4167 ZNF416 0 genome.wustl.edu 37 19 58084932 58084932 + Missense_Mutation SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 19 58084932 58084932 T C SNP ZNF416 ENST00000196489 human ensembl 74_37 -1 known missense c.340 p.T114A 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF416 HGNC ENSG00000083817 57 0 0 23 12 34.2857 ZSCAN4 0 genome.wustl.edu 37 19 58190208 58190208 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 19 58190208 58190208 C T SNP ZSCAN4 ENST00000318203 human ensembl 74_37 +1 known missense c.1237 p.R413C 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN4 HGNC ENSG00000180532 144 0 0 38 48 55.814 MYO7B 0 genome.wustl.edu 37 2 128335741 128335741 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 2 128335741 128335741 G A SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known missense c.883 p.A295T 0.136 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 45 0 0 14 10 41.6667 ZEB2 0 genome.wustl.edu 37 2 145156170 145156170 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 2 145156170 145156170 A C SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known missense c.2584 p.L862V 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 119 0 0 50 15 23.0769 RIF1 0 genome.wustl.edu 37 2 152331523 152331523 + Missense_Mutation SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 2 152331523 152331523 A G SNP RIF1 ENST00000243326 human ensembl 74_37 +1 known missense c.7357 p.N2453D 1.000 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 51 0 0 30 7 18.9189 SCN2A 0 genome.wustl.edu 37 2 166172074 166172074 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 2 166172074 166172074 T G SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.1477 p.L493V 1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 76 0 0 67 4 5.6338 SCN9A 0 genome.wustl.edu 37 2 167055189 167055189 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 2 167055189 167055189 T G SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.5963 p.K1988T 0.952 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 27 0 0 26 5 16.129 TTN 0 genome.wustl.edu 37 2 179426489 179426489 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 2 179426489 179426489 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.76666 p.E25556K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,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 50 0 0 32 143 81.7143 TTN 0 genome.wustl.edu 37 2 179587167 179587167 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 2 179587167 179587167 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.18615 p.Q6205H 0.994 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 89 0 0 160 30 15.7895 SESTD1 0 genome.wustl.edu 37 2 180011150 180011150 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 2 180011150 180011150 G A SNP SESTD1 ENST00000428443 human ensembl 74_37 -1 known missense c.616 p.P206S 1.000 NULL superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors SESTD1 HGNC ENSG00000187231 68 0 0 85 14 14.1414 UBE2E3 0 genome.wustl.edu 37 2 181846772 181846772 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 2 181846772 181846772 G A SNP UBE2E3 ENST00000392415 human ensembl 74_37 +1 known missense c.3 p.M1I 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2E3 HGNC ENSG00000170035 72 0 0 99 36 26.6667 ZNF804A 0 genome.wustl.edu 37 2 185802610 185802610 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 2 185802610 185802610 A C SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.2487 p.K829N 0.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 82 0 0 65 21 24.4186 DNAH7 0 genome.wustl.edu 37 2 196774920 196774920 + Splice_Site SNP C C G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 2 196774920 196774920 C G SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known splice_site c.3936-1 e25-1 1.000 - - - no_errors DNAH7 HGNC ENSG00000118997 28 0 0 29 4 12.1212 HECW2 0 genome.wustl.edu 37 2 197086947 197086947 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 2 197086947 197086947 T G SNP HECW2 ENST00000260983 human ensembl 74_37 -1 known missense c.4134 p.E1378D 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW2 HGNC ENSG00000138411 69 0 0 46 10 17.8571 HSPD1 0 genome.wustl.edu 37 2 198352641 198352641 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 2 198352641 198352641 C T SNP HSPD1 ENST00000345042 human ensembl 74_37 -1 known missense c.1510 p.D504N 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chaprnin_Cpn60 pfam_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,superfamily_Cpn60/TCP-1,prints_Chaprnin_Cpn60,prints_Chaperone_TCP-1,tigrfam_Chaprnin_Cpn60 - no_errors HSPD1 HGNC ENSG00000144381 54 0 0 50 8 13.7931 ICOS 0 genome.wustl.edu 37 2 204820607 204820607 + Missense_Mutation SNP C C A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 2 204820607 204820607 C A SNP ICOS ENST00000316386 human ensembl 74_37 +1 known missense c.307 p.H103N 0.562 NULL NULL - no_errors ICOS HGNC ENSG00000163600 75 0 0 87 5 5.43478 APOB 0 genome.wustl.edu 37 2 21231570 21231570 + Missense_Mutation SNP G G T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 2 21231570 21231570 G T SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.8170 p.P2724T 1.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 143 0 0 82 45 35.4331 RPIA 0 genome.wustl.edu 37 2 89049502 89049502 + Silent SNP G G T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 2 89049502 89049502 G T SNP RPIA ENST00000283646 human ensembl 74_37 +1 known silent c.843 p.V281 1.000 pfam_Ribose5P_isomerase_typA,tigrfam_Ribose5P_isomerase_typA pfam_Ribose5P_isomerase_typA,tigrfam_Ribose5P_isomerase_typA - no_errors RPIA HGNC ENSG00000153574 64 0 0 31 16 34.0426 ANKRD36BP2 0 genome.wustl.edu 37 2 89100708 89100708 + RNA SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 2 89100708 89100708 A G SNP ANKRD36BP2 ENST00000393515 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors ANKRD36BP2 HGNC ENSG00000230006 154 0 0 97 44 31.2057 PAX1 0 genome.wustl.edu 37 20 21687401 21687401 + Silent SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 20 21687401 21687401 C T SNP PAX1 ENST00000398485 human ensembl 74_37 +1 known silent c.612 p.G204 0.978 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 112 0 0 53 10 15.873 DEFB118 0 genome.wustl.edu 37 20 29960728 29960728 + Missense_Mutation SNP G G T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 20 29960728 29960728 G T SNP DEFB118 ENST00000253381 human ensembl 74_37 +1 known missense c.127 p.A43S 0.042 NULL NULL - no_errors DEFB118 HGNC ENSG00000131068 63 0 0 44 13 22.807 NCOA5 0 genome.wustl.edu 37 20 44695694 44695694 + Missense_Mutation SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 20 44695694 44695694 T C SNP NCOA5 ENST00000290231 human ensembl 74_37 -1 known missense c.629 p.K210R 1.000 superfamily_Anticodon-bd superfamily_Anticodon-bd - no_errors NCOA5 HGNC ENSG00000124160 101 0 0 87 34 28.0992 TPTE 0 genome.wustl.edu 37 21 10952958 10952958 + Missense_Mutation SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 21 10952958 10952958 T C SNP TPTE ENST00000361285 human ensembl 74_37 -1 known missense c.239 p.K80R 0.000 NULL pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 35 0 0 28 8 22.2222 SAMSN1 0 genome.wustl.edu 37 21 15858241 15858241 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 21 15858241 15858241 T G SNP SAMSN1 ENST00000400566 human ensembl 74_37 -1 known missense c.1114 p.S372R 0.291 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SAMSN1 HGNC ENSG00000155307 101 0 0 100 6 5.66038 MIR125B2 0 genome.wustl.edu 37 21 17962589 17962589 + RNA SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 21 17962589 17962589 T G SNP MIR125B2 ENST00000385128 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR125B2 HGNC ENSG00000207863 37 0 0 23 3 11.5385 APP 0 genome.wustl.edu 37 21 27264118 27264118 + Silent SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 21 27264118 27264118 A G SNP APP ENST00000346798 human ensembl 74_37 -1 known silent c.2127 p.G709 0.947 pfam_Amyloid_glyco_Abeta,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Amyloid_glyco_Abeta,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors APP HGNC ENSG00000142192 74 0 0 42 14 25 ADAMTS5 0 genome.wustl.edu 37 21 28304387 28304387 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 21 28304387 28304387 G A SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known missense c.1985 p.A662V 0.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,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-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 62 0 0 34 23 40.3509 NAGA 0 genome.wustl.edu 37 22 42462769 42462769 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 22 42462769 42462769 C T SNP NAGA ENST00000396398 human ensembl 74_37 -1 known missense c.542 p.R181H 1.000 superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 - no_errors NAGA HGNC ENSG00000198951 12 0 0 4 3 42.8571 TUBGCP6 0 genome.wustl.edu 37 22 50659547 50659547 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 22 50659547 50659547 C T SNP TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known missense c.3241 p.G1081R 0.115 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 212 0 0 101 36 26.2774 TRAT1 0 genome.wustl.edu 37 3 108572596 108572596 + Missense_Mutation SNP G G T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 3 108572596 108572596 G T SNP TRAT1 ENST00000295756 human ensembl 74_37 +1 known missense c.433 p.A145S 0.001 NULL NULL - no_errors TRAT1 HGNC ENSG00000163519 62 0 0 36 11 23.4043 EAF2 0 genome.wustl.edu 37 3 121591406 121591406 + Silent SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 3 121591406 121591406 A C SNP EAF2 ENST00000273668 human ensembl 74_37 +1 known silent c.507 p.L169 0.990 NULL pfam_Tscrpt_elong_fac_Eaf_N - no_errors EAF2 HGNC ENSG00000145088 199 0 0 165 33 16.6667 CNTN6 0 genome.wustl.edu 37 3 1269539 1269539 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 3 1269539 1269539 A C SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.220 p.S74R 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,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 CNTN6 HGNC ENSG00000134115 111 0 0 158 25 13.6612 MCM2 0 genome.wustl.edu 37 3 127339719 127339719 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 3 127339719 127339719 G A SNP MCM2 ENST00000265056 human ensembl 74_37 +1 known missense c.2444 p.R815H 1.000 superfamily_P-loop_NTPase pfam_MCM_DNA-dep_ATPase,pfam_MCM2,pfam_Mg_chelatse_chII,pfam_ATPase_AAA-3,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM2,prints_MCM_DNA-dep_ATPase - no_errors MCM2 HGNC ENSG00000073111 102 0 0 49 14 22.2222 CNTN6 0 genome.wustl.edu 37 3 1415424 1415424 + Silent SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 3 1415424 1415424 G A SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known silent c.1923 p.V641 0.880 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,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 CNTN6 HGNC ENSG00000134115 79 0 0 74 46 38.3333 SKIL 0 genome.wustl.edu 37 3 170078371 170078371 + Silent SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 3 170078371 170078371 C T SNP SKIL ENST00000259119 human ensembl 74_37 +1 known silent c.252 p.P84 0.595 NULL pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKIL HGNC ENSG00000136603 162 0 0 123 37 23.125 NAALADL2 0 genome.wustl.edu 37 3 174814787 174814787 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 3 174814787 174814787 T G SNP NAALADL2 ENST00000454872 human ensembl 74_37 +1 known missense c.251 p.L84R 1.000 NULL superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC ENSG00000177694 59 0 0 57 5 8.06452 MASP1 0 genome.wustl.edu 37 3 186954073 186954073 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 3 186954073 186954073 G A SNP MASP1 ENST00000296280 human ensembl 74_37 -1 known missense c.1586 p.S529L 0.404 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors MASP1 HGNC ENSG00000127241 76 0 0 49 13 20.9677 NR1D2 0 genome.wustl.edu 37 3 24001267 24001267 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 3 24001267 24001267 C T SNP NR1D2 ENST00000312521 human ensembl 74_37 +1 known missense c.478 p.R160C 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1D2 HGNC ENSG00000174738 100 0 0 77 16 17.2043 TRANK1 0 genome.wustl.edu 37 3 36887808 36887808 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 3 36887808 36887808 G A SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.4990 p.R1664W 1.000 superfamily_P-loop_NTPase pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 33 0 0 22 7 24.1379 SCN5A 0 genome.wustl.edu 37 3 38592796 38592796 + Silent SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 3 38592796 38592796 G A SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known silent c.5067 p.D1689 0.216 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 210 0 0 191 31 13.964 SCN11A 0 genome.wustl.edu 37 3 38938681 38938681 + Silent SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 3 38938681 38938681 A C SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known silent c.2058 p.T686 0.300 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 44 0 0 65 14 17.7215 TTC21A 0 genome.wustl.edu 37 3 39162529 39162529 + Silent SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 3 39162529 39162529 C T SNP TTC21A ENST00000301819 human ensembl 74_37 +1 known silent c.966 p.F322 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC ENSG00000168026 90 0 0 149 84 36.0515 TTC21A 0 genome.wustl.edu 37 3 39162565 39162565 + Silent SNP C C G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 3 39162565 39162565 C G SNP TTC21A ENST00000301819 human ensembl 74_37 +1 known silent c.1002 p.V334 0.281 smart_TPR_repeat,pfscan_TPR_repeat pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC ENSG00000168026 95 0 0 147 87 37.1795 TTC21A 0 genome.wustl.edu 37 3 39162590 39162590 + Missense_Mutation SNP C C G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 3 39162590 39162590 C G SNP TTC21A ENST00000301819 human ensembl 74_37 +1 known missense c.1027 p.L343V 1.000 smart_TPR_repeat,pfscan_TPR_repeat pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC ENSG00000168026 92 0 0 157 79 33.4746 CHL1 0 genome.wustl.edu 37 3 423943 423943 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 3 423943 423943 A C SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known missense c.1958 p.D653A 0.004 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CHL1 HGNC ENSG00000134121 69 0 0 116 7 5.69106 WDR6 0 genome.wustl.edu 37 3 49052400 49052400 + Silent SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 3 49052400 49052400 G A SNP WDR6 ENST00000395474 human ensembl 74_37 +1 known silent c.3135 p.E1045 0.469 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 114 0 0 81 65 44.5205 WDR6 0 genome.wustl.edu 37 3 49052464 49052464 + Nonsense_Mutation SNP G G T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 3 49052464 49052464 G T SNP WDR6 ENST00000395474 human ensembl 74_37 +1 known nonsense c.3199 p.E1067* 0.014 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 96 0 0 73 39 34.8214 CACNA2D3 0 genome.wustl.edu 37 3 54603875 54603875 + Nonsense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 3 54603875 54603875 C T SNP CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known nonsense c.730 p.R244* 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 17 0 0 11 13 54.1667 CCDC66 0 genome.wustl.edu 37 3 56605277 56605277 + Missense_Mutation SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 3 56605277 56605277 T C SNP CCDC66 ENST00000394672 human ensembl 74_37 +1 known missense c.883 p.S295P 0.948 NULL NULL - no_errors CCDC66 HGNC ENSG00000180376 102 0 0 109 41 27.3333 TMF1 0 genome.wustl.edu 37 3 69075185 69075185 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 3 69075185 69075185 C T SNP TMF1 ENST00000543976 human ensembl 74_37 -1 known missense c.2830 p.V944I 1.000 NULL pfam_TMF_TATA-bd,pfam_TMF_DNA-bd - no_errors TMF1 HGNC ENSG00000144747 99 0 0 73 22 23.1579 EPHA3 0 genome.wustl.edu 37 3 89462402 89462402 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 3 89462402 89462402 A C SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known missense c.1874 p.K625T 1.000 pirsf_Tyr_kinase_ephrin_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_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA3 HGNC ENSG00000044524 69 0 0 55 56 50.4505 EPHA6 0 genome.wustl.edu 37 3 97202873 97202873 + Missense_Mutation SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 3 97202873 97202873 A G SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known missense c.2170 p.R724G 1.000 superfamily_Kinase-like_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 53 0 0 29 13 30.9524 ZNF518B 0 genome.wustl.edu 37 4 10445604 10445604 + Silent SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 4 10445604 10445604 G A SNP ZNF518B ENST00000326756 human ensembl 74_37 -1 known silent c.2349 p.S783 0.244 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF518B HGNC ENSG00000178163 91 0 0 25 18 41.8605 ANK2 0 genome.wustl.edu 37 4 114176918 114176918 + Missense_Mutation SNP G G T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 4 114176918 114176918 G T SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.1018 p.A340S 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 178 0 0 83 45 35.1562 CCNA2 0 genome.wustl.edu 37 4 122739317 122739317 + Missense_Mutation SNP G G C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 4 122739317 122739317 G C SNP CCNA2 ENST00000274026 human ensembl 74_37 -1 known missense c.1132 p.R378G 0.091 pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNA2 HGNC ENSG00000145386 118 0 0 91 10 9.90099 BBS7 0 genome.wustl.edu 37 4 122774116 122774116 + Missense_Mutation SNP C C G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 4 122774116 122774116 C G SNP BBS7 ENST00000264499 human ensembl 74_37 -1 known missense c.844 p.D282H 1.000 superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot - no_errors BBS7 HGNC ENSG00000138686 58 0 0 39 4 9.30233 KIAA1109 0 genome.wustl.edu 37 4 123161001 123161001 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 4 123161001 123161001 G A SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.4164 p.M1388I 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 72 0 0 39 22 36.0656 PCDH18 0 genome.wustl.edu 37 4 138451176 138451176 + Silent SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 4 138451176 138451176 A G SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known silent c.2067 p.T689 0.379 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 172 0 0 171 15 8.06452 GUCY1A3 0 genome.wustl.edu 37 4 156632253 156632253 + Silent SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 4 156632253 156632253 A G SNP GUCY1A3 ENST00000296518 human ensembl 74_37 +1 known silent c.936 p.R312 0.964 pfam_Haem_no_assoc-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 67 0 0 41 7 14.5833 FSTL5 0 genome.wustl.edu 37 4 162697220 162697220 + Missense_Mutation SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 4 162697220 162697220 T C SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known missense c.416 p.K139R 1.000 NULL pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 20 0 0 17 7 29.1667 SLIT2 0 genome.wustl.edu 37 4 20258306 20258306 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 4 20258306 20258306 G A SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.191 p.G64E 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 60 0 0 34 9 20.9302 SLIT2 0 genome.wustl.edu 37 4 20525501 20525501 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 4 20525501 20525501 T G SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.1249 p.S417A 0.978 smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 148 0 0 78 14 15.2174 FAM193A 0 genome.wustl.edu 37 4 2695327 2695327 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 4 2695327 2695327 G A SNP FAM193A ENST00000324666 human ensembl 74_37 +1 known missense c.1945 p.G649S 0.995 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 172 0 0 72 10 12.1951 CORIN 0 genome.wustl.edu 37 4 47647108 47647108 + Silent SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 4 47647108 47647108 C T SNP CORIN ENST00000273857 human ensembl 74_37 -1 known silent c.1947 p.E649 0.999 pirsf_Peptidase_S1A_corin,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors CORIN HGNC ENSG00000145244 99 0 0 67 19 22.093 CORIN 0 genome.wustl.edu 37 4 47647114 47647114 + Missense_Mutation SNP C C A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 4 47647114 47647114 C A SNP CORIN ENST00000273857 human ensembl 74_37 -1 known missense c.1941 p.M647I 1.000 pirsf_Peptidase_S1A_corin,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors CORIN HGNC ENSG00000145244 107 0 0 72 20 21.7391 JAKMIP1 0 genome.wustl.edu 37 4 6107340 6107340 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 4 6107340 6107340 G A SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known missense c.484 p.R162C 1.000 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 9 0 0 3 3 50 ADAMTS3 0 genome.wustl.edu 37 4 73186470 73186470 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 4 73186470 73186470 A C SNP ADAMTS3 ENST00000286657 human ensembl 74_37 -1 known missense c.1063 p.F355V 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS3 HGNC ENSG00000156140 81 0 0 33 29 46.7742 PTPN13 0 genome.wustl.edu 37 4 87685813 87685813 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 4 87685813 87685813 A C SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known missense c.4085 p.K1362T 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13,superfamily_PDZ pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 17 0 0 8 7 46.6667 ST8SIA4 0 genome.wustl.edu 37 5 100192067 100192067 + Silent SNP T T A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 5 100192067 100192067 T A SNP ST8SIA4 ENST00000231461 human ensembl 74_37 -1 known silent c.537 p.A179 0.267 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA4 HGNC ENSG00000113532 37 0 0 11 8 42.1053 SPOCK1 0 genome.wustl.edu 37 5 136324212 136324212 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 5 136324212 136324212 T G SNP SPOCK1 ENST00000282223 human ensembl 74_37 -1 known missense c.827 p.K276T 1.000 pfam_SPARC/Testican_Ca-bd-dom pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK1 HGNC ENSG00000152377 143 0 0 77 11 12.5 PCDHB12 0 genome.wustl.edu 37 5 140590324 140590324 + Silent SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 5 140590324 140590324 C T SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known silent c.1845 p.F615 0.288 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 PCDHB12 HGNC ENSG00000120328 130 0 0 73 20 21.5054 BNIP1 0 genome.wustl.edu 37 5 172590860 172590860 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 5 172590860 172590860 C T SNP BNIP1 ENST00000231668 human ensembl 74_37 +1 known missense c.752 p.A251V 0.999 pfam_Sec20 pfam_Sec20 - no_errors BNIP1 HGNC ENSG00000113734 149 0 0 61 15 19.7368 CDH18 0 genome.wustl.edu 37 5 19721530 19721530 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 5 19721530 19721530 G A SNP CDH18 ENST00000274170 human ensembl 74_37 -1 known missense c.569 p.T190I 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 112 0 0 152 11 6.74847 CDH10 0 genome.wustl.edu 37 5 24498534 24498534 + Silent SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 5 24498534 24498534 A G SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known silent c.1488 p.F496 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 54 0 0 84 12 12.5 EGFLAM 0 genome.wustl.edu 37 5 38370543 38370543 + Missense_Mutation SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 5 38370543 38370543 A G SNP EGFLAM ENST00000354891 human ensembl 74_37 +1 known missense c.691 p.S231G 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 45 0 0 41 5 10.8696 MRPS30 0 genome.wustl.edu 37 5 44813250 44813250 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 5 44813250 44813250 T G SNP MRPS30 ENST00000507110 human ensembl 74_37 +1 known missense c.896 p.F299C 1.000 pfam_Ribosomal_L37/S30 pfam_Ribosomal_L37/S30 - no_errors MRPS30 HGNC ENSG00000112996 80 0 0 76 11 12.6437 RASA1 0 genome.wustl.edu 37 5 86629108 86629108 + Nonsense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 5 86629108 86629108 C T SNP RASA1 ENST00000274376 human ensembl 74_37 +1 known nonsense c.853 p.R285* 0.985 pfam_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 104 0 0 71 14 16.4706 PARK2 0 genome.wustl.edu 37 6 162206827 162206827 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 6 162206827 162206827 A C SNP PARK2 ENST00000366898 human ensembl 74_37 -1 known missense c.848 p.L283R 0.763 pirsf_Parkin pfam_Ubiquitin_dom,pfam_Znf_C6HC,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin - no_errors PARK2 HGNC ENSG00000185345 33 0 0 34 4 10.5263 HIST1H2BL 0 genome.wustl.edu 37 6 27775400 27775400 + Missense_Mutation SNP G G C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 6 27775400 27775400 G C SNP HIST1H2BL ENST00000377401 human ensembl 74_37 -1 known missense c.285 p.I95M 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BL HGNC ENSG00000185130 153 1 0.649351 93 57 38 NKAPL 0 genome.wustl.edu 37 6 28227548 28227548 + Silent SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 6 28227548 28227548 G A SNP NKAPL ENST00000343684 human ensembl 74_37 +1 known silent c.399 p.A133 0.008 NULL pfam_DUF926 - no_errors NKAPL HGNC ENSG00000189134 203 0 0 184 44 19.2982 TDRD6 0 genome.wustl.edu 37 6 46659618 46659618 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 6 46659618 46659618 T G SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known missense c.3753 p.F1251L 0.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 83 0 0 66 19 22.3529 TFAP2D 0 genome.wustl.edu 37 6 50682950 50682950 + Missense_Mutation SNP A A T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 6 50682950 50682950 A T SNP TFAP2D ENST00000008391 human ensembl 74_37 +1 known missense c.161 p.E54V 1.000 NULL pfam_TF_AP2_C,prints_TF_AP2_C - no_errors TFAP2D HGNC ENSG00000008197 173 0 0 195 32 14.0969 GSTA1 0 genome.wustl.edu 37 6 52661050 52661050 + Missense_Mutation SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 6 52661050 52661050 T C SNP GSTA1 ENST00000334575 human ensembl 74_37 -1 known missense c.202 p.T68A 1.000 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA1 HGNC ENSG00000243955 192 0 0 144 107 42.6295 BAI3 0 genome.wustl.edu 37 6 69653787 69653787 + Silent SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 6 69653787 69653787 A C SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known silent c.1096 p.R366 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 131 0 0 53 19 26.3889 KCNQ5 0 genome.wustl.edu 37 6 73830234 73830234 + Missense_Mutation SNP A A T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 6 73830234 73830234 A T SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known missense c.1154 p.E385V 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 56 0 0 33 11 25 KCNQ5 0 genome.wustl.edu 37 6 73900325 73900325 + Missense_Mutation SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 6 73900325 73900325 A G SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known missense c.1637 p.K546R 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 41 0 0 25 9 26.4706 COL12A1 0 genome.wustl.edu 37 6 75865381 75865381 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 6 75865381 75865381 A C SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.3440 p.L1147R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 126 1 0.787402 86 15 14.8515 PPP1R3A 0 genome.wustl.edu 37 7 113518863 113518863 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 7 113518863 113518863 T G SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.2284 p.S762R 1.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 99 0 0 93 30 24.3902 CPED1 0 genome.wustl.edu 37 7 120876821 120876821 + Silent SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 7 120876821 120876821 T G SNP CPED1 ENST00000310396 human ensembl 74_37 +1 known silent c.2109 p.S703 0.360 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 66 0 0 63 11 14.8649 CHRM2 0 genome.wustl.edu 37 7 136700337 136700337 + Missense_Mutation SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 7 136700337 136700337 A G SNP CHRM2 ENST00000320658 human ensembl 74_37 +1 known missense c.725 p.K242R 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 20 0 0 14 7 33.3333 OR6B1 0 genome.wustl.edu 37 7 143701562 143701562 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 7 143701562 143701562 C T SNP OR6B1 ENST00000408922 human ensembl 74_37 +1 known missense c.473 p.A158V 0.467 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B1 HGNC ENSG00000221813 63 0 0 49 12 19.6721 ZNF398 0 genome.wustl.edu 37 7 148876198 148876198 + Silent SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 7 148876198 148876198 A C SNP ZNF398 ENST00000540950 human ensembl 74_37 +1 known silent c.1249 p.R417 0.008 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF398 HGNC ENSG00000197024 149 0 0 132 24 15.3846 RHEB 0 genome.wustl.edu 37 7 151181842 151181842 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 7 151181842 151181842 A C SNP RHEB ENST00000262187 human ensembl 74_37 -1 known missense c.173 p.L58R 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,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,pfam_EF_GTP-bd_dom,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 RHEB HGNC ENSG00000106615 67 0 0 48 13 21.3115 PLEKHA8 0 genome.wustl.edu 37 7 30092397 30092397 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 7 30092397 30092397 G A SNP PLEKHA8 ENST00000449726 human ensembl 74_37 +1 known missense c.711 p.M237I 0.945 NULL pfam_Glycolipid_transfer_prot_dom,pfam_Pleckstrin_homology,superfamily_Glycolipid_transfer_prot_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA8 HGNC ENSG00000106086 34 0 0 17 6 26.087 SDK1 0 genome.wustl.edu 37 7 4008964 4008964 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 7 4008964 4008964 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.1622 p.A541V 0.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 322 0 0 139 153 52.3973 ABCA13 0 genome.wustl.edu 37 7 48411843 48411843 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 7 48411843 48411843 A C SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.10882 p.S3628R 0.612 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 115 0 0 86 15 14.8515 CHCHD2 0 genome.wustl.edu 37 7 56171922 56171922 + Nonsense_Mutation SNP G G T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 7 56171922 56171922 G T SNP CHCHD2 ENST00000395422 human ensembl 74_37 -1 known nonsense c.297 p.Y99* 1.000 NULL pfam_CHCH - no_errors CHCHD2 HGNC ENSG00000106153 129 0 0 84 15 15.1515 ZNF733P 0 genome.wustl.edu 37 7 62752683 62752683 + RNA SNP C C A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 7 62752683 62752683 C A SNP ZNF733P ENST00000331425 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors ZNF733P HGNC ENSG00000185037 115 0 0 95 14 12.844 AUTS2 0 genome.wustl.edu 37 7 69064894 69064894 + Missense_Mutation SNP G G C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 7 69064894 69064894 G C SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known missense c.255 p.E85D 1.000 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 41 0 0 27 4 12.9032 CACNA2D1 0 genome.wustl.edu 37 7 81746366 81746366 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 7 81746366 81746366 C T SNP CACNA2D1 ENST00000356253 human ensembl 74_37 -1 known missense c.520 p.E174K 1.000 pfam_VWA_N pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 96 0 0 70 14 16.6667 PCLO 0 genome.wustl.edu 37 7 82544696 82544696 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 7 82544696 82544696 T G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.12606 p.K4202N 0.998 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 72 0 0 48 17 26.1538 ZNF804B 0 genome.wustl.edu 37 7 88964949 88964949 + Missense_Mutation SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 7 88964949 88964949 A G SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.2653 p.K885E 0.945 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 53 0 0 61 27 30.6818 CYP3A43 0 genome.wustl.edu 37 7 99459298 99459298 + Silent SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 7 99459298 99459298 G A SNP CYP3A43 ENST00000222382 human ensembl 74_37 +1 known silent c.1089 p.T363 0.362 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP3A43 HGNC ENSG00000021461 62 0 0 49 18 26.8657 KCNQ3 0 genome.wustl.edu 37 8 133150175 133150175 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 8 133150175 133150175 C T SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known missense c.1657 p.G553R 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 133 0 0 71 29 29 ARHGAP39 0 genome.wustl.edu 37 8 145773731 145773731 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 8 145773731 145773731 C T SNP ARHGAP39 ENST00000377307 human ensembl 74_37 -1 known missense c.739 p.G247S 0.987 NULL pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_dom,smart_WW_dom,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP39 HGNC ENSG00000147799 21 0 0 14 2 12.5 SH2D4A 0 genome.wustl.edu 37 8 19218776 19218776 + Silent SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 8 19218776 19218776 G A SNP SH2D4A ENST00000265807 human ensembl 74_37 +1 known silent c.657 p.T219 0.994 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors SH2D4A HGNC ENSG00000104611 48 0 0 34 9 20.9302 CSMD1 0 genome.wustl.edu 37 8 2807839 2807839 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 8 2807839 2807839 A C SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.10231 p.L3411V 1.000 NULL 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 CSMD1 HGNC ENSG00000183117 137 0 0 104 27 20.6107 ENSG00000272159 0 genome.wustl.edu 37 8 38265847 38265847 + RNA SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 8 38265847 38265847 C T SNP ENSG00000272159 ENST00000606593 human ensembl 74_37 -1 known rna NULL NULL 0.054 - - - no_errors RP11-350N15.6 Clone_based_vega_gene ENSG00000272159 11 0 0 12 2 14.2857 CHRNA6 0 genome.wustl.edu 37 8 42620260 42620260 + Missense_Mutation SNP G G C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 8 42620260 42620260 G C SNP CHRNA6 ENST00000276410 human ensembl 74_37 -1 known missense c.167 p.S56C 0.991 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA6 HGNC ENSG00000147434 146 0 0 102 29 22.1374 PXDNL 0 genome.wustl.edu 37 8 52321285 52321285 + Missense_Mutation SNP G G C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 8 52321285 52321285 G C SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.2899 p.L967V 0.489 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 10 0 0 5 2 28.5714 PREX2 0 genome.wustl.edu 37 8 69046292 69046292 + Splice_Site SNP A A T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 8 69046292 69046292 A T SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known splice_site c.3767-2 e32-2 1.000 - - - no_errors PREX2 HGNC ENSG00000046889 65 0 0 64 23 26.4368 PREX2 0 genome.wustl.edu 37 8 69069558 69069558 + Silent SNP A A T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 8 69069558 69069558 A T SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known silent c.4233 p.A1411 0.926 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 18 0 0 22 5 18.5185 SLCO5A1 0 genome.wustl.edu 37 8 70744764 70744764 + Missense_Mutation SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 8 70744764 70744764 T C SNP SLCO5A1 ENST00000260126 human ensembl 74_37 -1 known missense c.145 p.S49G 0.168 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 64 0 0 31 14 31.1111 ZFHX4 0 genome.wustl.edu 37 8 77620259 77620259 + Missense_Mutation SNP C C G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 8 77620259 77620259 C G SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.3069 p.H1023Q 0.983 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 118 0 0 97 19 16.3793 PAPPA 0 genome.wustl.edu 37 9 118949522 118949522 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 9 118949522 118949522 C T SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known missense c.505 p.R169C 1.000 superfamily_ConA-like_lec_gl_sf,smart_LamG-like pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 103 0 0 53 25 32.0513 TLR4 0 genome.wustl.edu 37 9 120475722 120475722 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 9 120475722 120475722 A C SNP TLR4 ENST00000355622 human ensembl 74_37 +1 known missense c.1316 p.E439A 0.001 pirsf_Toll-like_receptor,smart_Leu-rich_rpt_typical-subtyp pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 89 0 0 52 13 20 FCN2 0 genome.wustl.edu 37 9 137778358 137778358 + Silent SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 9 137778358 137778358 C T SNP FCN2 ENST00000291744 human ensembl 74_37 +1 known silent c.642 p.D214 0.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FCN2 HGNC ENSG00000160339 160 0 0 82 39 32.2314 MAMDC4 0 genome.wustl.edu 37 9 139747813 139747813 + Silent SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 9 139747813 139747813 C T SNP MAMDC4 ENST00000445819 human ensembl 74_37 +1 known silent c.231 p.D77 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt - no_errors MAMDC4 HGNC ENSG00000177943 72 0 0 38 13 25.4902 IFNA17 0 genome.wustl.edu 37 9 21227998 21227998 + Missense_Mutation SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 9 21227998 21227998 A G SNP IFNA17 ENST00000413767 human ensembl 74_37 -1 known missense c.175 p.F59L 0.176 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA17 HGNC ENSG00000234829 239 0 0 139 27 16.2651 CCDC107 0 genome.wustl.edu 37 9 35661081 35661081 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 9 35661081 35661081 G A SNP CCDC107 ENST00000426546 human ensembl 74_37 +1 known missense c.749 p.R250Q 0.950 NULL NULL - no_errors CCDC107 HGNC ENSG00000159884 81 0 0 52 15 22.3881 PTPRD 0 genome.wustl.edu 37 9 8500770 8500770 + Silent SNP A A G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 9 8500770 8500770 A G SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known silent c.2112 p.I704 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 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 120 0 0 71 7 8.97436 ARL13A 0 genome.wustl.edu 37 X 100242442 100242442 + Missense_Mutation SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d X 100242442 100242442 C T SNP ARL13A ENST00000450457 human ensembl 74_37 +1 known missense c.550 p.R184C 0.095 pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR - no_errors ARL13A HGNC ENSG00000174225 55 0 0 22 23 51.1111 NXT2 0 genome.wustl.edu 37 X 108785790 108785790 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d X 108785790 108785790 A C SNP NXT2 ENST00000218004 human ensembl 74_37 +1 known missense c.467 p.K156T 1.000 pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_errors NXT2 HGNC ENSG00000101888 65 0 0 51 24 32 GRIA3 0 genome.wustl.edu 37 X 122319754 122319754 + Silent SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d X 122319754 122319754 C T SNP GRIA3 ENST00000264357 human ensembl 74_37 +1 known silent c.180 p.T60 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_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 GRIA3 HGNC ENSG00000125675 56 0 0 41 4 8.88889 F9 0 genome.wustl.edu 37 X 138630607 138630607 + Missense_Mutation SNP G G C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d X 138630607 138630607 G C SNP F9 ENST00000218099 human ensembl 74_37 +1 known missense c.477 p.E159D 0.010 smart_EG-like_dom,pirsf_Pept_S1A_FX pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain - no_errors F9 HGNC ENSG00000101981 38 0 0 22 20 47.619 SLITRK2 0 genome.wustl.edu 37 X 144904233 144904233 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d X 144904233 144904233 G A SNP SLITRK2 ENST00000370490 human ensembl 74_37 +1 known missense c.290 p.G97E 1.000 smart_Leu-rich_rpt_typical-subtyp 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 51 0 0 22 13 37.1429 FMR1NB 0 genome.wustl.edu 37 X 147088344 147088344 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d X 147088344 147088344 T G SNP FMR1NB ENST00000370467 human ensembl 74_37 +1 known missense c.520 p.F174V 0.003 superfamily_P_trefoil superfamily_P_trefoil - no_errors FMR1NB HGNC ENSG00000176988 60 0 0 58 7 10.7692 MAGEA4 0 genome.wustl.edu 37 X 151092883 151092883 + Missense_Mutation SNP A A C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d X 151092883 151092883 A C SNP MAGEA4 ENST00000276344 human ensembl 74_37 +1 known missense c.747 p.Q249H 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA4 HGNC ENSG00000147381 112 0 0 58 34 36.9565 ACE2 0 genome.wustl.edu 37 X 15593858 15593858 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d X 15593858 15593858 T G SNP ACE2 ENST00000252519 human ensembl 74_37 -1 known missense c.1373 p.K458T 1.000 pfam_Peptidase_M2,prints_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE2 HGNC ENSG00000130234 59 0 0 16 20 55.5556 NR0B1 0 genome.wustl.edu 37 X 30326665 30326665 + Silent SNP C C T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d X 30326665 30326665 C T SNP NR0B1 ENST00000378970 human ensembl 74_37 -1 known silent c.816 p.L272 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt - no_errors NR0B1 HGNC ENSG00000169297 9 0 0 5 5 50 USP9X 0 genome.wustl.edu 37 X 41075642 41075642 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d X 41075642 41075642 G A SNP USP9X ENST00000324545 human ensembl 74_37 +1 known missense c.5822 p.R1941H 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP9X HGNC ENSG00000124486 69 0 0 16 89 84.7619 AR 0 genome.wustl.edu 37 X 66765865 66765865 + Missense_Mutation SNP T T C TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d X 66765865 66765865 T C SNP AR ENST00000374690 human ensembl 74_37 +1 known missense c.877 p.S293P 0.340 pfam_Andrgn_rcpt pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 40 0 0 26 11 29.7297 NLGN3 0 genome.wustl.edu 37 X 70375090 70375090 + Missense_Mutation SNP G G A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d X 70375090 70375090 G A SNP NLGN3 ENST00000358741 human ensembl 74_37 +1 known missense c.604 p.V202I 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC ENSG00000196338 27 0 0 27 3 10 KIAA2022 0 genome.wustl.edu 37 X 73961616 73961616 + Missense_Mutation SNP T T G TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d X 73961616 73961616 T G SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.2776 p.N926H 0.977 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 33 0 0 24 6 20 DIAPH2 0 genome.wustl.edu 37 X 95993746 95993746 + Silent SNP C C A TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d X 95993746 95993746 C A SNP DIAPH2 ENST00000324765 human ensembl 74_37 +1 known silent c.327 p.L109 0.996 pfam_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH2 HGNC ENSG00000147202 46 0 0 33 15 31.25 EDNRB 0 genome.wustl.edu 37 13 78472431 78472431 + Frame_Shift_Del DEL T T - TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 13 78472431 78472431 T - DEL EDNRB ENST00000334286 human ensembl 74_37 -1 known frame_shift_del c.1233 p.K411fs 1.000 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 40 0 0 40 10 20 CTDSPL2 0 genome.wustl.edu 37 15 44813530 44813530 + Frame_Shift_Del DEL G G - TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 15 44813530 44813530 G - DEL CTDSPL2 ENST00000260327 human ensembl 74_37 +1 known frame_shift_del c.1261 p.E421fs 1.000 pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase - no_errors CTDSPL2 HGNC ENSG00000137770 62 0 0 33 11 25 FTSJ3 0 genome.wustl.edu 37 17 61902200 61902226 + In_Frame_Del DEL GAGGAAGTCAACAGGGTTGGCAGCTCG GAGGAAGTCAACAGGGTTGGCAGCTCG - TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 GAGGAAGTCAACAGGGTTGGCAGCTCG GAGGAAGTCAACAGGGTTGGCAGCTCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 17 61902200 61902226 GAGGAAGTCAACAGGGTTGGCAGCTCG - DEL FTSJ3 ENST00000427159 human ensembl 74_37 -1 known in_frame_del c.801_775 p.RAANPVDFL259in_frame_del 0.988:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.982:1.000:1.000:0.997:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.996:1.000:1.000:1.000:1.000:1.000 pfam_rRNA_MeTfrase_Spb1_DUF3381 pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381 - no_errors FTSJ3 HGNC ENSG00000108592 68 0 0 51 5 8.92857 TP53 0 genome.wustl.edu 37 17 7579585 7579585 + Frame_Shift_Del DEL G G - TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 17 7579585 7579585 G - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.102 p.L35fs 0.000 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 255 0 0 90 94 51.087 DLGAP1 0 genome.wustl.edu 37 18 3879367 3879379 + Frame_Shift_Del DEL CTGTGAGGCCGAG CTGTGAGGCCGAG - TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 CTGTGAGGCCGAG CTGTGAGGCCGAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 18 3879367 3879379 CTGTGAGGCCGAG - DEL DLGAP1 ENST00000315677 human ensembl 74_37 -1 known frame_shift_del c.702_690 p.S231fs 1.000:1.000:1.000:0.061:1.000:1.000:1.000:1.000:0.959:0.916:1.000:1.000:1.000 NULL pfam_GKAP - no_errors DLGAP1 HGNC ENSG00000170579 134 0 0 120 20 14.2857 ZNF804A 0 genome.wustl.edu 37 2 185731152 185731152 + Frame_Shift_Del DEL T T - TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 2 185731152 185731152 T - DEL ZNF804A ENST00000302277 human ensembl 74_37 +1 known frame_shift_del c.168 p.Y58fs 1.000 pfam_Znf_C2H2_jaz pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 40 0 0 33 6 15.3846 IGSF11 0 genome.wustl.edu 37 3 118621778 118621780 + In_Frame_Del DEL AGA AGA - TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 3 118621778 118621780 AGA - DEL IGSF11 ENST00000393775 human ensembl 74_37 -1 known in_frame_del c.885_883 p.S295in_frame_del 0.957:1.000:1.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF11 HGNC ENSG00000144847 81 0 0 55 14 20.2899 ITGB8 0 genome.wustl.edu 37 7 20371449 20371450 + Frame_Shift_Ins INS - - T TCGA-D7-6527-01A-11D-1800-08 TCGA-D7-6527-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc537fcf-d910-4c4b-8af9-e7da429f2633 3729b122-72fa-41f5-95ba-fcef586c479d 7 20371449 20371450 - T INS ITGB8 ENST00000222573 human ensembl 74_37 +1 known frame_shift_ins c.20_21 p.T10fs 0.625:0.529 pirsf_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_EGF_extracell,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB8 HGNC ENSG00000105855 53 0 0 34 11 24.4444