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 PRAMEF11 0 genome.wustl.edu 37 1 12887516 12887516 + Nonsense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 1 12887516 12887516 C T SNP PRAMEF11 ENST00000535591 human ensembl 74_37 -1 known nonsense c.341 p.W114* 0.000 NULL NULL - no_errors PRAMEF11 HGNC ENSG00000204513 373 0 0 351 71 16.8246 PRAMEF14 0 genome.wustl.edu 37 1 13669392 13669392 + Missense_Mutation SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 1 13669392 13669392 A G SNP PRAMEF14 ENST00000344998 human ensembl 74_37 -1 known missense c.794 p.L265P 0.006 NULL NULL - no_errors PRAMEF14 HGNC ENSG00000204481 14 0 0 8 7 46.6667 HRNR 0 genome.wustl.edu 37 1 152193481 152193481 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 1 152193481 152193481 G A SNP HRNR ENST00000368801 human ensembl 74_37 -1 known silent c.624 p.H208 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 170 0 0 119 61 33.8889 FLG 0 genome.wustl.edu 37 1 152279810 152279810 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 1 152279810 152279810 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.7552 p.R2518C 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 560 0 0 460 74 13.8577 CD1A 0 genome.wustl.edu 37 1 158225038 158225038 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 1 158225038 158225038 T G SNP CD1A ENST00000289429 human ensembl 74_37 +1 known missense c.223 p.F75V 0.335 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1A HGNC ENSG00000158477 64 0 0 41 30 42.2535 OR10K1 0 genome.wustl.edu 37 1 158435857 158435857 + Missense_Mutation SNP A A T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 1 158435857 158435857 A T SNP OR10K1 ENST00000289451 human ensembl 74_37 +1 known missense c.506 p.H169L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K1 HGNC ENSG00000173285 262 0 0 119 85 41.6667 SPTA1 0 genome.wustl.edu 37 1 158622345 158622345 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 1 158622345 158622345 T C SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.3287 p.E1096G 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 88 0 0 91 22 19.469 SPTA1 0 genome.wustl.edu 37 1 158653164 158653164 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 1 158653164 158653164 C T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known silent c.387 p.T129 0.728 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 77 0 0 92 14 13.2075 OR6N2 0 genome.wustl.edu 37 1 158747232 158747232 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 1 158747232 158747232 A C SNP OR6N2 ENST00000339258 human ensembl 74_37 -1 known missense c.194 p.V65G 0.015 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6N2 HGNC ENSG00000188340 123 0 0 132 66 33.3333 KIAA1614 0 genome.wustl.edu 37 1 180910330 180910330 + Missense_Mutation SNP A A T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 1 180910330 180910330 A T SNP KIAA1614 ENST00000367588 human ensembl 74_37 +1 known missense c.3068 p.K1023M 0.997 NULL NULL - no_errors KIAA1614 HGNC ENSG00000135835 60 0 0 32 9 21.9512 HTR6 0 genome.wustl.edu 37 1 20005790 20005790 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 1 20005790 20005790 G A SNP HTR6 ENST00000289753 human ensembl 74_37 +1 known missense c.1252 p.V418I 0.972 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT6_rcpt,prints_GPCR_Rhodpsn - no_errors HTR6 HGNC ENSG00000158748 18 0 0 12 4 25 IGFN1 0 genome.wustl.edu 37 1 201183424 201183424 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 1 201183424 201183424 G A SNP IGFN1 ENST00000335211 human ensembl 74_37 +1 known missense c.8848 p.V2950I 0.502 pfam_Ig_I-set,smart_Ig_sub2,pfscan_Ig-like_dom 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 IGFN1 HGNC ENSG00000163395 57 0 0 32 3 8.57143 LRRN2 0 genome.wustl.edu 37 1 204589057 204589057 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 1 204589057 204589057 C T SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known missense c.64 p.V22M 0.995 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 21 0 0 21 4 16 HSD11B1 0 genome.wustl.edu 37 1 209905907 209905907 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 1 209905907 209905907 T C SNP HSD11B1 ENST00000261465 human ensembl 74_37 +1 known missense c.644 p.L215P 0.999 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors HSD11B1 HGNC ENSG00000117594 95 0 0 80 34 29.8246 LEFTY1 0 genome.wustl.edu 37 1 226074671 226074671 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 1 226074671 226074671 G A SNP LEFTY1 ENST00000272134 human ensembl 74_37 -1 known missense c.857 p.P286L 1.000 pfam_TGF-b_C,smart_TGF-b_C,pirsf_LRDF,prints_LRDF pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_LRDF,prints_LRDF - no_errors LEFTY1 HGNC ENSG00000243709 57 0 0 22 6 21.4286 EPHB2 0 genome.wustl.edu 37 1 23208893 23208893 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 1 23208893 23208893 G A SNP EPHB2 ENST00000400191 human ensembl 74_37 +1 known missense c.1345 p.V449M 0.752 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,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,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 78 0 0 45 30 40 MT1HL1 0 genome.wustl.edu 37 1 237167572 237167572 + Missense_Mutation SNP C C A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 1 237167572 237167572 C A SNP MT1HL1 ENST00000464121 human ensembl 74_37 -1 known missense c.101 p.C34F 0.989 pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert - no_errors MT1HL1 HGNC ENSG00000244020 78 0 0 21 15 41.6667 ZNF695 0 genome.wustl.edu 37 1 247150278 247150278 + Silent SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 1 247150278 247150278 A G SNP ZNF695 ENST00000339986 human ensembl 74_37 -1 known silent c.1539 p.T513 0.668 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 ZNF695 HGNC ENSG00000197472 33 0 0 14 20 58.8235 OR2G3 0 genome.wustl.edu 37 1 247769183 247769183 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 1 247769183 247769183 C T SNP OR2G3 ENST00000320002 human ensembl 74_37 +1 known missense c.296 p.A99V 0.004 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 OR2G3 HGNC ENSG00000177476 294 0 0 149 21 12.3529 OR6F1 0 genome.wustl.edu 37 1 247875925 247875925 + Missense_Mutation SNP T T A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 1 247875925 247875925 T A SNP OR6F1 ENST00000302084 human ensembl 74_37 -1 known missense c.133 p.I45F 0.023 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 OR6F1 HGNC ENSG00000169214 140 0 0 103 33 24.2647 OR2T8 0 genome.wustl.edu 37 1 248085035 248085035 + Missense_Mutation SNP G G T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 1 248085035 248085035 G T SNP OR2T8 ENST00000319968 human ensembl 74_37 +1 known missense c.716 p.C239F 0.995 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T8 HGNC ENSG00000177462 40 0 0 18 7 28 OR2T4 0 genome.wustl.edu 37 1 248525571 248525571 + Missense_Mutation SNP T T A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 1 248525571 248525571 T A SNP OR2T4 ENST00000366475 human ensembl 74_37 +1 known missense c.689 p.F230Y 0.005 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T4 HGNC ENSG00000196944 189 0 0 79 77 49.359 SH3BP5L 0 genome.wustl.edu 37 1 249107243 249107243 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 1 249107243 249107243 A C SNP SH3BP5L ENST00000366472 human ensembl 74_37 -1 known missense c.656 p.I219S 0.983 pfam_SH3-bd_5 pfam_SH3-bd_5 - no_errors SH3BP5L HGNC ENSG00000175137 81 0 0 27 11 28.9474 AHDC1 0 genome.wustl.edu 37 1 27876608 27876608 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 1 27876608 27876608 G A SNP AHDC1 ENST00000247087 human ensembl 74_37 -1 known silent c.2019 p.G673 0.000 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 62 0 0 57 11 16.1765 CSMD2 0 genome.wustl.edu 37 1 34052210 34052210 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 1 34052210 34052210 G A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known silent c.6945 p.I2315 0.996 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 41 0 0 32 22 40.7407 ALG6 0 genome.wustl.edu 37 1 63894567 63894567 + RNA SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 1 63894567 63894567 C T SNP ALG6 ENST00000494765 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors ALG6 HGNC ENSG00000088035 10 0 0 16 5 23.8095 NEGR1 0 genome.wustl.edu 37 1 72163820 72163820 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 1 72163820 72163820 T C SNP NEGR1 ENST00000357731 human ensembl 74_37 -1 known missense c.538 p.K180E 0.999 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NEGR1 HGNC ENSG00000172260 26 0 0 6 17 73.913 C1orf173 0 genome.wustl.edu 37 1 75072397 75072397 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 1 75072397 75072397 T G SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.1377 p.Q459H 0.018 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 99 0 0 118 93 44.0758 COL24A1 0 genome.wustl.edu 37 1 86590871 86590871 + Missense_Mutation SNP C C G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 1 86590871 86590871 C G SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known missense c.1148 p.R383T 0.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 60 0 0 64 27 29.6703 ISG15 0 genome.wustl.edu 37 1 949723 949723 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 1 949723 949723 G A SNP ISG15 ENST00000379389 human ensembl 74_37 +1 known silent c.363 p.L121 0.994 pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors ISG15 HGNC ENSG00000187608 109 0 0 54 22 28.9474 C10orf76 0 genome.wustl.edu 37 10 103789493 103789493 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 10 103789493 103789493 C T SNP C10orf76 ENST00000370033 human ensembl 74_37 -1 known missense c.316 p.A106T 1.000 superfamily_ARM-type_fold pfam_DUF1741,superfamily_ARM-type_fold - no_errors C10orf76 HGNC ENSG00000120029 79 0 0 14 31 68.8889 USP6NL 0 genome.wustl.edu 37 10 11505274 11505274 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 10 11505274 11505274 G A SNP USP6NL ENST00000379237 human ensembl 74_37 -1 known silent c.1722 p.Y574 0.900 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors USP6NL HGNC ENSG00000148429 139 0 0 105 60 36.3636 PNLIPRP1 0 genome.wustl.edu 37 10 118353831 118353831 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 10 118353831 118353831 C T SNP PNLIPRP1 ENST00000497792 human ensembl 74_37 +1 known missense c.334 p.P112S 0.000 prints_Lipase_panc,prints_Lipase pfam_Lipase_N,prints_Lipase_panc,prints_Lipase - no_errors PNLIPRP1 HGNC ENSG00000187021 11 0 0 5 3 37.5 CUBN 0 genome.wustl.edu 37 10 17087075 17087075 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 10 17087075 17087075 G A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known silent c.3603 p.S1201 0.980 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 83 0 0 52 47 47.4747 ZNF438 0 genome.wustl.edu 37 10 31138579 31138579 + Missense_Mutation SNP G G C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 10 31138579 31138579 G C SNP ZNF438 ENST00000361310 human ensembl 74_37 -1 known missense c.755 p.S252C 0.003 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF438 HGNC ENSG00000183621 181 0 0 168 99 37.0787 PRKG1 0 genome.wustl.edu 37 10 52834364 52834364 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 10 52834364 52834364 G A SNP PRKG1 ENST00000373980 human ensembl 74_37 +1 known missense c.14 p.R5Q 1.000 pirsf_cGMP-dependent_protein_kinase pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom - no_errors PRKG1 HGNC ENSG00000185532 18 0 0 15 10 40 DKK1 0 genome.wustl.edu 37 10 54076525 54076525 + Missense_Mutation SNP A A T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 10 54076525 54076525 A T SNP DKK1 ENST00000373970 human ensembl 74_37 +1 known missense c.759 p.Q253H 1.000 NULL pfam_Dickkopf_N - no_errors DKK1 HGNC ENSG00000107984 52 0 0 59 37 38.5417 PCDH15 0 genome.wustl.edu 37 10 56106146 56106146 + Silent SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 10 56106146 56106146 A G SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known silent c.573 p.I191 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 41 0 0 50 38 43.1818 NUTM2E 0 genome.wustl.edu 37 10 81610259 81610259 + Missense_Mutation SNP A A T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 10 81610259 81610259 A T SNP NUTM2E ENST00000429984 human ensembl 74_37 +1 known missense c.2534 p.E845V 0.000 NULL NULL - no_errors NUTM2E HGNC ENSG00000228570 34 0 0 13 6 31.5789 EXOC6 0 genome.wustl.edu 37 10 94816716 94816716 + Silent SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 10 94816716 94816716 T G SNP EXOC6 ENST00000371547 human ensembl 74_37 +1 known silent c.2253 p.T751 0.996 pfam_Sec15,pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6 HGNC ENSG00000138190 64 0 0 11 27 71.0526 ARHGAP20 0 genome.wustl.edu 37 11 110451103 110451103 + Missense_Mutation SNP T T A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 11 110451103 110451103 T A SNP ARHGAP20 ENST00000260283 human ensembl 74_37 -1 known missense c.2567 p.K856M 0.136 NULL pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom - no_errors ARHGAP20 HGNC ENSG00000137727 114 0 0 75 51 40.4762 HTR3B 0 genome.wustl.edu 37 11 113815433 113815433 + Missense_Mutation SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 11 113815433 113815433 A G SNP HTR3B ENST00000260191 human ensembl 74_37 +1 known missense c.1046 p.D349G 0.009 superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_B,prints_5HT3_rcpt,prints_Neur_channel,prints_5HT3_rcpt_A,tigrfam_Neur_channel - no_errors HTR3B HGNC ENSG00000149305 113 0 0 52 23 30.6667 KMT2A 0 genome.wustl.edu 37 11 118343719 118343719 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 11 118343719 118343719 G A SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known silent c.1845 p.P615 0.910 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 76 0 0 65 5 7.14286 UPK2 0 genome.wustl.edu 37 11 118828883 118828883 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 11 118828883 118828883 C T SNP UPK2 ENST00000264031 human ensembl 74_37 +1 known silent c.495 p.V165 0.323 pfam_Uroplakin_II,pirsf_Uroplakin_II pfam_Uroplakin_II,pirsf_Uroplakin_II - no_errors UPK2 HGNC ENSG00000110375 55 0 0 30 21 41.1765 PIK3C2A 0 genome.wustl.edu 37 11 17190765 17190765 + Missense_Mutation SNP C C A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 11 17190765 17190765 C A SNP PIK3C2A ENST00000265970 human ensembl 74_37 -1 known missense c.524 p.R175I 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 84 0 0 51 19 27.1429 KCNA4 0 genome.wustl.edu 37 11 30033552 30033552 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 11 30033552 30033552 C T SNP KCNA4 ENST00000328224 human ensembl 74_37 -1 known missense c.674 p.R225H 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 91 0 0 58 17 22.6667 PAMR1 0 genome.wustl.edu 37 11 35454060 35454060 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 11 35454060 35454060 C T SNP PAMR1 ENST00000278360 human ensembl 74_37 -1 known silent c.2058 p.A686 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_EG-like_dom,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors PAMR1 HGNC ENSG00000149090 89 0 0 32 29 47.541 RAG1 0 genome.wustl.edu 37 11 36595248 36595248 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 11 36595248 36595248 C T SNP RAG1 ENST00000299440 human ensembl 74_37 +1 known missense c.394 p.P132S 1.000 NULL pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING - no_errors RAG1 HGNC ENSG00000166349 75 0 0 44 8 15.3846 ACCSL 0 genome.wustl.edu 37 11 44072941 44072941 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 11 44072941 44072941 T G SNP ACCSL ENST00000378832 human ensembl 74_37 +1 known missense c.692 p.L231R 0.736 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCSL HGNC ENSG00000205126 63 0 0 37 29 43.9394 OR51D1 0 genome.wustl.edu 37 11 4661487 4661487 + Missense_Mutation SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 11 4661487 4661487 A G SNP OR51D1 ENST00000357605 human ensembl 74_37 +1 known missense c.467 p.K156R 0.876 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 OR51D1 HGNC ENSG00000197428 167 0 0 72 15 17.2414 TRIM48 0 genome.wustl.edu 37 11 55033158 55033158 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 11 55033158 55033158 T G SNP TRIM48 ENST00000417545 human ensembl 74_37 +1 known missense c.542 p.I181S 0.002 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM48 HGNC ENSG00000150244 30 0 0 23 25 52.0833 OR4A16 0 genome.wustl.edu 37 11 55110805 55110805 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 11 55110805 55110805 T G SNP OR4A16 ENST00000314721 human ensembl 74_37 +1 known missense c.129 p.I43M 0.240 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A16 HGNC ENSG00000181961 92 0 0 95 22 18.8034 OR4C15 0 genome.wustl.edu 37 11 55322161 55322161 + Missense_Mutation SNP T T A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 11 55322161 55322161 T A SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known missense c.379 p.S127T 0.040 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 172 0 0 78 66 45.8333 FAM111A 0 genome.wustl.edu 37 11 58919986 58919986 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 11 58919986 58919986 C T SNP FAM111A ENST00000361723 human ensembl 74_37 +1 known missense c.845 p.P282L 0.000 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom - no_errors FAM111A HGNC ENSG00000166801 65 0 0 37 23 38.3333 VEGFB 0 genome.wustl.edu 37 11 64003329 64003329 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 11 64003329 64003329 C T SNP VEGFB ENST00000309422 human ensembl 74_37 +1 known missense c.148 p.R50W 0.963 pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors VEGFB HGNC ENSG00000173511 66 0 0 20 14 41.1765 PACS1 0 genome.wustl.edu 37 11 65984206 65984206 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 11 65984206 65984206 A C SNP PACS1 ENST00000320580 human ensembl 74_37 +1 known missense c.938 p.K313T 1.000 NULL pfam_Phosphofurin_acidic_CS-1 - no_errors PACS1 HGNC ENSG00000175115 51 0 0 27 7 20.5882 CABP4 0 genome.wustl.edu 37 11 67223083 67223083 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 11 67223083 67223083 C T SNP CABP4 ENST00000325656 human ensembl 74_37 +1 known silent c.189 p.G63 0.009 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CABP4 HGNC ENSG00000175544 24 0 0 4 7 63.6364 RBMXL2 0 genome.wustl.edu 37 11 7111100 7111100 + Missense_Mutation SNP A A T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 11 7111100 7111100 A T SNP RBMXL2 ENST00000306904 human ensembl 74_37 +1 known missense c.749 p.D250V 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL2 HGNC ENSG00000170748 37 0 0 19 5 20.8333 RIC3 0 genome.wustl.edu 37 11 8132166 8132166 + RNA SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 11 8132166 8132166 G A SNP RIC3 ENST00000530060 human ensembl 74_37 -1 known rna NULL NULL 0.090 - - - no_errors RIC3 HGNC ENSG00000166405 46 0 0 9 13 59.0909 C11orf16 0 genome.wustl.edu 37 11 8948637 8948637 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 11 8948637 8948637 C T SNP C11orf16 ENST00000326053 human ensembl 74_37 -1 known missense c.409 p.V137I 0.086 NULL NULL - no_errors C11orf16 HGNC ENSG00000176029 64 0 0 17 19 52.7778 CNTN5 0 genome.wustl.edu 37 11 99827705 99827705 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 11 99827705 99827705 C T SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known missense c.841 p.L281F 0.792 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN5 HGNC ENSG00000149972 36 0 0 27 12 30.7692 GNPTAB 0 genome.wustl.edu 37 12 102158483 102158483 + Missense_Mutation SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 12 102158483 102158483 A G SNP GNPTAB ENST00000299314 human ensembl 74_37 -1 known missense c.2212 p.S738P 0.687 pfam_DMAP1-bd pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 45 0 0 78 6 7.14286 RNF34 0 genome.wustl.edu 37 12 121861308 121861308 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 12 121861308 121861308 G A SNP RNF34 ENST00000392465 human ensembl 74_37 +1 known missense c.1051 p.G351S 1.000 smart_Znf_RING,pfscan_Znf_RING superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF34 HGNC ENSG00000170633 35 0 0 6 20 76.9231 DNAH10 0 genome.wustl.edu 37 12 124409641 124409641 + Silent SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 12 124409641 124409641 T G SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known silent c.11457 p.G3819 0.017 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 71 0 0 11 42 79.2453 EP400 0 genome.wustl.edu 37 12 132446433 132446433 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 12 132446433 132446433 G A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.1269 p.L423 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 58 0 0 53 23 30.2632 DDX11 0 genome.wustl.edu 37 12 31254031 31254031 + Silent SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 12 31254031 31254031 A G SNP DDX11 ENST00000407793 human ensembl 74_37 +1 known silent c.2019 p.E673 0.103 tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC ENSG00000013573 119 0 0 122 39 24.2236 CNTN1 0 genome.wustl.edu 37 12 41323661 41323661 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 12 41323661 41323661 G A SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known missense c.560 p.R187Q 1.000 smart_Ig_sub,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 CNTN1 HGNC ENSG00000018236 87 0 0 75 104 58.1006 COL2A1 0 genome.wustl.edu 37 12 48375752 48375752 + RNA SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 12 48375752 48375752 A C SNP COL2A1 ENST00000493991 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors COL2A1 HGNC ENSG00000139219 36 0 0 41 26 38.806 TMEM194A 0 genome.wustl.edu 37 12 57454643 57454643 + Nonsense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 12 57454643 57454643 G A SNP TMEM194A ENST00000300128 human ensembl 74_37 -1 known nonsense c.1066 p.R356* 0.860 pfam_TMEM194 pfam_TMEM194 - no_errors TMEM194A HGNC ENSG00000166881 84 0 0 80 103 56.2842 LRP1 0 genome.wustl.edu 37 12 57589508 57589508 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 12 57589508 57589508 C T SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known silent c.8505 p.F2835 0.969 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 68 0 0 66 22 25 ZIC2 0 genome.wustl.edu 37 13 100637296 100637296 + Missense_Mutation SNP A A T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 13 100637296 100637296 A T SNP ZIC2 ENST00000376335 human ensembl 74_37 +1 known missense c.1172 p.K391M 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC2 HGNC ENSG00000043355 104 0 0 73 22 23.1579 ATP12A 0 genome.wustl.edu 37 13 25281524 25281524 + Missense_Mutation SNP C C A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 13 25281524 25281524 C A SNP ATP12A ENST00000218548 human ensembl 74_37 +1 known missense c.2464 p.P822T 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP12A HGNC ENSG00000075673 152 0 0 118 23 16.3121 MTMR6 0 genome.wustl.edu 37 13 25825882 25825882 + Nonsense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 13 25825882 25825882 G A SNP MTMR6 ENST00000381801 human ensembl 74_37 -1 known nonsense c.1510 p.R504* 1.000 NULL pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat - no_errors MTMR6 HGNC ENSG00000139505 29 0 0 43 9 17.3077 RASL11A 0 genome.wustl.edu 37 13 27847280 27847280 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 13 27847280 27847280 C T SNP RASL11A ENST00000241463 human ensembl 74_37 +1 known silent c.378 p.P126 0.995 pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,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 RASL11A HGNC ENSG00000122035 70 0 0 16 47 74.6032 DCLK1 0 genome.wustl.edu 37 13 36521533 36521533 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 13 36521533 36521533 T G SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.785 p.K262T 1.000 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 28 0 0 45 8 15.0943 PCDH20 0 genome.wustl.edu 37 13 61985723 61985723 + Missense_Mutation SNP C C A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 13 61985723 61985723 C A SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known missense c.2509 p.V837F 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 90 0 0 80 17 17.5258 LMO7 0 genome.wustl.edu 37 13 76408425 76408425 + Missense_Mutation SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 13 76408425 76408425 A G SNP LMO7 ENST00000357063 human ensembl 74_37 +1 known missense c.3284 p.K1095R 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 55 0 0 35 16 31.3725 SLITRK5 0 genome.wustl.edu 37 13 88328385 88328385 + Missense_Mutation SNP G G T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 13 88328385 88328385 G T SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.742 p.D248Y 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 130 0 0 127 25 16.4474 DZIP1 0 genome.wustl.edu 37 13 96251664 96251664 + Missense_Mutation SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 13 96251664 96251664 A G SNP DZIP1 ENST00000347108 human ensembl 74_37 -1 known missense c.1492 p.S498P 0.988 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DZIP1 HGNC ENSG00000134874 26 0 0 40 10 20 GPR132 0 genome.wustl.edu 37 14 105518248 105518248 + Missense_Mutation SNP C C G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 14 105518248 105518248 C G SNP GPR132 ENST00000329797 human ensembl 74_37 -1 known missense c.226 p.V76L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_G2A_lysphc_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR132 HGNC ENSG00000183484 115 0 0 100 65 39.3939 JPH4 0 genome.wustl.edu 37 14 24040430 24040430 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 14 24040430 24040430 C T SNP JPH4 ENST00000356300 human ensembl 74_37 -1 known missense c.1510 p.A504T 0.051 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH4 HGNC ENSG00000092051 245 0 0 134 92 40.708 HEATR5A 0 genome.wustl.edu 37 14 31852827 31852827 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 14 31852827 31852827 T C SNP HEATR5A ENST00000389961 human ensembl 74_37 -1 known missense c.1478 p.K493R 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5A HGNC ENSG00000129493 154 0 0 125 93 42.6606 FAM177A1 0 genome.wustl.edu 37 14 35546406 35546406 + Silent SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 14 35546406 35546406 T G SNP FAM177A1 ENST00000280987 human ensembl 74_37 +1 known silent c.390 p.A130 1.000 NULL NULL - no_errors FAM177A1 HGNC ENSG00000151327 105 0 0 229 24 9.48617 VCPKMT 0 genome.wustl.edu 37 14 50576420 50576420 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 14 50576420 50576420 C T SNP VCPKMT ENST00000395860 human ensembl 74_37 -1 known silent c.687 p.S229 0.197 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors VCPKMT HGNC ENSG00000100483 13 0 0 4 20 83.3333 ABHD12B 0 genome.wustl.edu 37 14 51352350 51352350 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 14 51352350 51352350 T G SNP ABHD12B ENST00000337334 human ensembl 74_37 +1 known missense c.505 p.F169V 1.000 pfam_AB_hydrolase_1,pfam_Peptidase_S9,pfam_X-Pro-like_dom pfam_AB_hydrolase_1,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors ABHD12B HGNC ENSG00000131969 104 0 0 84 61 42.069 CGRRF1 0 genome.wustl.edu 37 14 55004833 55004833 + Nonsense_Mutation SNP C C A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 14 55004833 55004833 C A SNP CGRRF1 ENST00000216420 human ensembl 74_37 +1 known nonsense c.731 p.S244* 0.933 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors CGRRF1 HGNC ENSG00000100532 59 0 0 69 10 12.6582 PCNXL4 0 genome.wustl.edu 37 14 60581727 60581727 + Missense_Mutation SNP C C A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 14 60581727 60581727 C A SNP PCNXL4 ENST00000404681 human ensembl 74_37 +1 known missense c.905 p.A302D 0.978 NULL pfam_Pecanex - no_errors PCNXL4 HGNC ENSG00000126773 37 0 0 57 21 26.9231 SIX6 0 genome.wustl.edu 37 14 60976191 60976191 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 14 60976191 60976191 C T SNP SIX6 ENST00000327720 human ensembl 74_37 +1 known silent c.75 p.G25 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX6 HGNC ENSG00000184302 87 0 0 70 18 20.4545 KCNH5 0 genome.wustl.edu 37 14 63175038 63175038 + Missense_Mutation SNP G G T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 14 63175038 63175038 G T SNP KCNH5 ENST00000322893 human ensembl 74_37 -1 known missense c.2155 p.L719M 1.000 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 135 0 0 140 23 14.1104 KCNH5 0 genome.wustl.edu 37 14 63511893 63511893 + Silent SNP G G T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 14 63511893 63511893 G T SNP KCNH5 ENST00000322893 human ensembl 74_37 -1 known silent c.12 p.G4 1.000 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 52 0 0 55 14 20.2899 ALDH6A1 0 genome.wustl.edu 37 14 74538929 74538929 + Missense_Mutation SNP G G C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 14 74538929 74538929 G C SNP ALDH6A1 ENST00000553458 human ensembl 74_37 -1 known missense c.325 p.Q109E 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_MeMal-semiAld_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_MeMal-semiAld_DH - no_errors ALDH6A1 HGNC ENSG00000119711 68 0 0 85 13 13.2653 VRTN 0 genome.wustl.edu 37 14 74824717 74824717 + Missense_Mutation SNP C C A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 14 74824717 74824717 C A SNP VRTN ENST00000256362 human ensembl 74_37 +1 known missense c.1231 p.H411N 1.000 NULL pfam_Transposase_8 - no_errors VRTN HGNC ENSG00000133980 95 0 0 14 79 84.9462 SNORD115-43 0 genome.wustl.edu 37 15 25494368 25494368 + RNA SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 15 25494368 25494368 T C SNP SNORD115-43 ENST00000365503 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SNORD115-43 HGNC ENSG00000202373 386 0 0 60 228 79.1667 ZNF770 0 genome.wustl.edu 37 15 35275478 35275478 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 15 35275478 35275478 T C SNP ZNF770 ENST00000356321 human ensembl 74_37 -1 known missense c.158 p.K53R 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ENSG00000198146 43 0 0 14 39 73.5849 RMDN3 0 genome.wustl.edu 37 15 41043711 41043711 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 15 41043711 41043711 C T SNP RMDN3 ENST00000260385 human ensembl 74_37 -1 known missense c.437 p.R146Q 0.901 NULL NULL - no_errors RMDN3 HGNC ENSG00000137824 121 0 0 84 21 20 ADAMTSL3 0 genome.wustl.edu 37 15 84705590 84705590 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 15 84705590 84705590 A C SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known missense c.4820 p.K1607T 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 36 0 0 9 16 64 ALPK3 0 genome.wustl.edu 37 15 85383024 85383024 + Missense_Mutation SNP A A T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 15 85383024 85383024 A T SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known missense c.1120 p.M374L 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK3 HGNC ENSG00000136383 83 0 0 16 59 78.6667 BLM 0 genome.wustl.edu 37 15 91306363 91306363 + Missense_Mutation SNP G G T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 15 91306363 91306363 G T SNP BLM ENST00000355112 human ensembl 74_37 +1 known missense c.2050 p.D684Y 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors BLM HGNC ENSG00000197299 96 0 0 96 24 20 FOPNL 0 genome.wustl.edu 37 16 15978053 15978053 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 16 15978053 15978053 T C SNP FOPNL ENST00000255759 human ensembl 74_37 -1 known missense c.38 p.D13G 1.000 NULL pfam_FOP_dimerisation-dom_N,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors FOPNL HGNC ENSG00000133393 41 0 0 32 7 17.9487 ZNF48 0 genome.wustl.edu 37 16 30409955 30409955 + Nonsense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 16 30409955 30409955 C T SNP ZNF48 ENST00000320159 human ensembl 74_37 +1 known nonsense c.1384 p.R462* 0.002 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF48 HGNC ENSG00000180035 115 0 0 84 6 6.66667 SRCAP 0 genome.wustl.edu 37 16 30732561 30732561 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 16 30732561 30732561 C T SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known missense c.3305 p.P1102L 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 206 0 0 37 127 77.439 RNF40 0 genome.wustl.edu 37 16 30778079 30778079 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 16 30778079 30778079 G A SNP RNF40 ENST00000324685 human ensembl 74_37 +1 known silent c.1311 p.L437 0.369 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC ENSG00000103549 49 0 0 39 3 7.14286 HEATR3 0 genome.wustl.edu 37 16 50102711 50102711 + Missense_Mutation SNP G G T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 16 50102711 50102711 G T SNP HEATR3 ENST00000299192 human ensembl 74_37 +1 known missense c.332 p.G111V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR3 HGNC ENSG00000155393 111 0 0 31 105 77.2059 CHD9 0 genome.wustl.edu 37 16 53191212 53191212 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 16 53191212 53191212 T G SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known missense c.1211 p.L404R 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 15 0 0 1 22 95.6522 ENSG00000261270 0 genome.wustl.edu 37 16 56974220 56974220 + RNA SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 16 56974220 56974220 C T SNP ENSG00000261270 ENST00000565861 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors RP11-325K4.3 Clone_based_vega_gene ENSG00000261270 26 0 0 4 27 87.0968 EXOC3L1 0 genome.wustl.edu 37 16 67223060 67223060 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 16 67223060 67223060 G A SNP EXOC3L1 ENST00000314586 human ensembl 74_37 -1 known missense c.70 p.R24W 1.000 NULL pfam_Sec6 - no_errors EXOC3L1 HGNC ENSG00000179044 20 0 0 5 7 58.3333 HYDIN 0 genome.wustl.edu 37 16 70977783 70977783 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 16 70977783 70977783 C T SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.6601 p.E2201K 0.897 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 32 0 0 3 22 88 BCMO1 0 genome.wustl.edu 37 16 81324114 81324114 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 16 81324114 81324114 A C SNP BCMO1 ENST00000258168 human ensembl 74_37 +1 known missense c.1576 p.K526Q 0.000 NULL pfam_Carotenoid_Oase - no_errors BCMO1 HGNC ENSG00000135697 110 0 0 16 76 82.6087 MBTPS1 0 genome.wustl.edu 37 16 84126890 84126890 + Missense_Mutation SNP C C G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 16 84126890 84126890 C G SNP MBTPS1 ENST00000343411 human ensembl 74_37 -1 known missense c.749 p.G250A 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors MBTPS1 HGNC ENSG00000140943 80 0 0 18 50 73.5294 MYH8 0 genome.wustl.edu 37 17 10303844 10303844 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 17 10303844 10303844 C T SNP MYH8 ENST00000403437 human ensembl 74_37 -1 known missense c.3598 p.A1200T 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 161 0 0 20 55 73.3333 MYH3 0 genome.wustl.edu 37 17 10550594 10550594 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 17 10550594 10550594 A C SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.803 p.L268R 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 63 0 0 16 27 62.7907 DNAH9 0 genome.wustl.edu 37 17 11711210 11711210 + Missense_Mutation SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 17 11711210 11711210 A G SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.8582 p.K2861R 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 43 0 0 6 18 75 ENSG00000265788 0 genome.wustl.edu 37 17 25989060 25989060 + RNA SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 17 25989060 25989060 G A SNP ENSG00000265788 ENST00000583179 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-19P22.5 Clone_based_vega_gene ENSG00000265788 20 0 0 8 7 46.6667 CORO6 0 genome.wustl.edu 37 17 27946705 27946705 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 17 27946705 27946705 G A SNP CORO6 ENST00000345068 human ensembl 74_37 -1 known silent c.285 p.N95 0.992 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO6 HGNC ENSG00000167549 151 0 0 86 43 33.3333 ITGAE 0 genome.wustl.edu 37 17 3661134 3661134 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 17 3661134 3661134 T G SNP ITGAE ENST00000263087 human ensembl 74_37 -1 known missense c.886 p.S296R 0.027 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAE HGNC ENSG00000083457 177 0 0 95 77 44.7674 KRT33B 0 genome.wustl.edu 37 17 39521764 39521764 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 17 39521764 39521764 G A SNP KRT33B ENST00000251646 human ensembl 74_37 -1 known silent c.630 p.N210 1.000 pfam_IF,prints_Keratin_I pfam_IF,prints_Keratin_I - no_errors KRT33B HGNC ENSG00000131738 50 0 0 35 18 33.9623 ZZEF1 0 genome.wustl.edu 37 17 3992174 3992174 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 17 3992174 3992174 T G SNP ZZEF1 ENST00000381638 human ensembl 74_37 -1 known missense c.2039 p.K680T 1.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 48 0 0 21 9 30 PHOSPHO1 0 genome.wustl.edu 37 17 47302153 47302153 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 17 47302153 47302153 G A SNP PHOSPHO1 ENST00000413580 human ensembl 74_37 -1 known missense c.334 p.R112W 0.965 pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like - no_errors PHOSPHO1 HGNC ENSG00000173868 15 0 0 7 9 56.25 BZRAP1 0 genome.wustl.edu 37 17 56388310 56388310 + Missense_Mutation SNP G G T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 17 56388310 56388310 G T SNP BZRAP1 ENST00000355701 human ensembl 74_37 -1 known missense c.3346 p.L1116I 0.005 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 21 0 0 5 5 50 LRRC37A3 0 genome.wustl.edu 37 17 62856576 62856576 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 17 62856576 62856576 C T SNP LRRC37A3 ENST00000319651 human ensembl 74_37 -1 known missense c.3688 p.A1230T 0.001 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 125 0 0 61 36 37.1134 MIR636 0 genome.wustl.edu 37 17 74732590 74732590 + RNA SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 17 74732590 74732590 G A SNP MIR636 ENST00000384825 human ensembl 74_37 -1 known rna NULL NULL 0.010 - - - no_errors MIR636 HGNC ENSG00000207556 43 0 0 27 19 41.3043 TP53 0 genome.wustl.edu 37 17 7579472 7579472 + Missense_Mutation SNP G G C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 17 7579472 7579472 G C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.215 p.P72R 0.045 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 180 1 0.552486 35 4 10.2564 DNAH2 0 genome.wustl.edu 37 17 7701486 7701486 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 17 7701486 7701486 G A SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.8242 p.V2748M 0.999 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 169 1 0.588235 88 41 31.7829 GPS1 0 genome.wustl.edu 37 17 80011241 80011241 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 17 80011241 80011241 T C SNP GPS1 ENST00000355130 human ensembl 74_37 +1 known missense c.245 p.L82P 1.000 NULL pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom - no_errors GPS1 HGNC ENSG00000169727 22 0 0 11 8 42.1053 LDLRAD4 0 genome.wustl.edu 37 18 13645159 13645159 + Missense_Mutation SNP A A T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 18 13645159 13645159 A T SNP LDLRAD4 ENST00000359446 human ensembl 74_37 +1 known missense c.424 p.T142S 0.184 NULL pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt - no_errors LDLRAD4 HGNC ENSG00000168675 115 0 0 10 89 89.899 ST8SIA5 0 genome.wustl.edu 37 18 44260338 44260338 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 18 44260338 44260338 G A SNP ST8SIA5 ENST00000315087 human ensembl 74_37 -1 known silent c.798 p.D266 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA5 HGNC ENSG00000101638 41 0 0 8 24 75 POLI 0 genome.wustl.edu 37 18 51813737 51813737 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 18 51813737 51813737 G A SNP POLI ENST00000579534 human ensembl 74_37 +1 known missense c.1154 p.R385H 1.000 pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLI HGNC ENSG00000101751 10 0 0 0 5 100 ZNF66 0 genome.wustl.edu 37 19 20989958 20989958 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 19 20989958 20989958 T C SNP ZNF66 ENST00000344519 human ensembl 74_37 +1 known missense c.1552 p.F518L 0.059 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 ZNF66 HGNC ENSG00000160229 11 0 0 6 14 70 JSRP1 0 genome.wustl.edu 37 19 2254273 2254273 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 19 2254273 2254273 C T SNP JSRP1 ENST00000300961 human ensembl 74_37 -1 known missense c.175 p.V59M 0.012 NULL NULL - no_errors JSRP1 HGNC ENSG00000167476 134 0 0 10 76 88.3721 RHPN2 0 genome.wustl.edu 37 19 33486967 33486967 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 19 33486967 33486967 T G SNP RHPN2 ENST00000254260 human ensembl 74_37 -1 known missense c.1385 p.D462A 0.997 pfam_BRO1_dom pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom - no_errors RHPN2 HGNC ENSG00000131941 83 0 0 89 16 15.2381 CHST8 0 genome.wustl.edu 37 19 34263466 34263466 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 19 34263466 34263466 G A SNP CHST8 ENST00000262622 human ensembl 74_37 +1 known missense c.773 p.R258H 0.997 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST8 HGNC ENSG00000124302 127 0 0 63 33 34.375 ZNF540 0 genome.wustl.edu 37 19 38102725 38102725 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 19 38102725 38102725 G A SNP ZNF540 ENST00000316433 human ensembl 74_37 +1 known missense c.544 p.D182N 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 ZNF540 HGNC ENSG00000171817 42 0 0 48 9 15.7895 RYR1 0 genome.wustl.edu 37 19 38956792 38956792 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 19 38956792 38956792 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.2932 p.P978S 0.998 pfam_Ryanodine_rcpt pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,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_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 17 0 0 24 13 35.1351 CREB3L3 0 genome.wustl.edu 37 19 4171144 4171144 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 19 4171144 4171144 A C SNP CREB3L3 ENST00000078445 human ensembl 74_37 +1 known missense c.947 p.K316T 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L3 HGNC ENSG00000060566 55 0 0 11 28 71.7949 ARHGEF1 0 genome.wustl.edu 37 19 42407468 42407468 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 19 42407468 42407468 G A SNP ARHGEF1 ENST00000337665 human ensembl 74_37 +1 known missense c.1795 p.E599K 0.995 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RGS-like_dom,pfam_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF1 HGNC ENSG00000076928 39 0 0 27 4 12.9032 BCAM 0 genome.wustl.edu 37 19 45322614 45322614 + Silent SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 19 45322614 45322614 A G SNP BCAM ENST00000270233 human ensembl 74_37 +1 known silent c.1485 p.P495 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors BCAM HGNC ENSG00000187244 104 1 0.952381 56 51 47.6636 KCNC3 0 genome.wustl.edu 37 19 50827318 50827318 + Missense_Mutation SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 19 50827318 50827318 A G SNP KCNC3 ENST00000477616 human ensembl 74_37 -1 known missense c.892 p.F298L 1.000 prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC3 HGNC ENSG00000131398 55 0 0 12 20 62.5 KLK8 0 genome.wustl.edu 37 19 51503867 51503867 + Nonsense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 19 51503867 51503867 G A SNP KLK8 ENST00000391806 human ensembl 74_37 -1 known nonsense c.178 p.R60* 0.000 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK8 HGNC ENSG00000129455 81 0 0 57 40 41.2371 KLK9 0 genome.wustl.edu 37 19 51509979 51509979 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 19 51509979 51509979 C T SNP KLK9 ENST00000544410 human ensembl 74_37 -1 known missense c.44 p.G15D 0.927 NULL NULL - no_errors KLK9 HGNC ENSG00000213022 26 0 0 27 3 10 SIGLEC10 0 genome.wustl.edu 37 19 51914402 51914402 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 19 51914402 51914402 C T SNP SIGLEC10 ENST00000339313 human ensembl 74_37 -1 known missense c.2045 p.R682Q 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC10 HGNC ENSG00000142512 115 0 0 76 26 25.4902 BIRC8 0 genome.wustl.edu 37 19 53793336 53793336 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 19 53793336 53793336 T G SNP BIRC8 ENST00000426466 human ensembl 74_37 -1 known missense c.292 p.T98P 0.155 NULL pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC8 HGNC ENSG00000163098 102 0 0 116 52 30.9524 ZSCAN5B 0 genome.wustl.edu 37 19 56702324 56702324 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 19 56702324 56702324 G A SNP ZSCAN5B ENST00000358992 human ensembl 74_37 -1 known silent c.621 p.D207 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5B HGNC ENSG00000197213 122 0 0 59 40 40.404 ZNF667 0 genome.wustl.edu 37 19 56953232 56953232 + Silent SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 19 56953232 56953232 T G SNP ZNF667 ENST00000342634 human ensembl 74_37 -1 known silent c.1516 p.R506 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF667 HGNC ENSG00000198046 35 0 0 38 42 52.5 ZNF135 0 genome.wustl.edu 37 19 58578513 58578513 + Missense_Mutation SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 19 58578513 58578513 A G SNP ZNF135 ENST00000401053 human ensembl 74_37 +1 known missense c.733 p.K245E 0.782 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 ZNF135 HGNC ENSG00000176293 136 0 0 97 50 34.0136 ZNF497 0 genome.wustl.edu 37 19 58868391 58868391 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 19 58868391 58868391 G A SNP ZNF497 ENST00000311044 human ensembl 74_37 -1 known missense c.611 p.T204M 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF497 HGNC ENSG00000174586 27 0 0 7 8 53.3333 OR2Z1 0 genome.wustl.edu 37 19 8841411 8841411 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 19 8841411 8841411 G A SNP OR2Z1 ENST00000324060 human ensembl 74_37 +1 known silent c.21 p.S7 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2Z1 HGNC ENSG00000181733 68 0 0 12 48 80 MUC16 0 genome.wustl.edu 37 19 9072734 9072734 + Missense_Mutation SNP C C A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 19 9072734 9072734 C A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.14712 p.Q4904H 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 156 0 0 195 23 10.5505 GLI2 0 genome.wustl.edu 37 2 121554889 121554889 + RNA SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 2 121554889 121554889 C T SNP GLI2 ENST00000435313 human ensembl 74_37 +1 known rna NULL NULL 0.051 - - - no_errors GLI2 HGNC ENSG00000074047 308 0 0 281 118 29.5739 TFCP2L1 0 genome.wustl.edu 37 2 122004466 122004466 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 2 122004466 122004466 C T SNP TFCP2L1 ENST00000263707 human ensembl 74_37 -1 known silent c.585 p.T195 0.064 pfam_CP2 pfam_CP2,superfamily_SAM/pointed - no_errors TFCP2L1 HGNC ENSG00000115112 116 0 0 77 39 33.6207 CNTNAP5 0 genome.wustl.edu 37 2 125367442 125367442 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 2 125367442 125367442 C T SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known silent c.1818 p.I606 0.208 superfamily_Fibrinogen_a/b/g_C_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 65 0 0 70 34 32.6923 NCKAP5 0 genome.wustl.edu 37 2 133540568 133540568 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 2 133540568 133540568 T G SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.3816 p.K1272N 1.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 120 0 0 23 62 72.9412 RPRM 0 genome.wustl.edu 37 2 154335019 154335019 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 2 154335019 154335019 C T SNP RPRM ENST00000325926 human ensembl 74_37 -1 known missense c.61 p.E21K 1.000 NULL NULL - no_errors RPRM HGNC ENSG00000177519 29 0 0 16 8 33.3333 HOXD12 0 genome.wustl.edu 37 2 176964778 176964778 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 2 176964778 176964778 C T SNP HOXD12 ENST00000406506 human ensembl 74_37 +1 known silent c.249 p.L83 0.001 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD12 HGNC ENSG00000170178 11 0 0 12 3 20 TTN 0 genome.wustl.edu 37 2 179400781 179400781 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 2 179400781 179400781 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.92989 p.A30997T 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,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 49 0 0 55 37 40.2174 TTN 0 genome.wustl.edu 37 2 179448559 179448559 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 2 179448559 179448559 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.57646 p.D19216N 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 21 0 0 6 8 57.1429 TTN 0 genome.wustl.edu 37 2 179482725 179482725 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 2 179482725 179482725 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.39649 p.D13217N 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 79 0 0 102 19 15.7025 TTN 0 genome.wustl.edu 37 2 179585215 179585215 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 2 179585215 179585215 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.19542 p.S6514R 1.000 pfam_Ig_I-set,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,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 53 0 0 58 36 38.2979 TTN 0 genome.wustl.edu 37 2 179647007 179647007 + Missense_Mutation SNP T T A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 2 179647007 179647007 T A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.3312 p.Q1104H 0.919 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 92 0 0 49 37 43.0233 CARF 0 genome.wustl.edu 37 2 203839206 203839206 + Missense_Mutation SNP T T A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 2 203839206 203839206 T A SNP CARF ENST00000320443 human ensembl 74_37 +1 known missense c.1481 p.I494N 1.000 NULL NULL - no_errors CARF HGNC ENSG00000138380 32 0 0 25 24 48.9796 PARD3B 0 genome.wustl.edu 37 2 206480561 206480561 + RNA SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 2 206480561 206480561 G A SNP PARD3B ENST00000488622 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors PARD3B HGNC ENSG00000116117 88 0 0 112 45 28.6624 ZDBF2 0 genome.wustl.edu 37 2 207171081 207171081 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 2 207171081 207171081 T C SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known missense c.1829 p.V610A 0.001 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 51 0 0 75 14 15.7303 CRYGA 0 genome.wustl.edu 37 2 209027988 209027988 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 2 209027988 209027988 G A SNP CRYGA ENST00000304502 human ensembl 74_37 -1 known silent c.192 p.P64 0.356 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGA HGNC ENSG00000168582 93 0 0 58 41 41.4141 ERBB4 0 genome.wustl.edu 37 2 212251872 212251872 + Missense_Mutation SNP G G T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 2 212251872 212251872 G T SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.3187 p.Q1063K 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 117 0 0 93 59 38.8158 ABCA12 0 genome.wustl.edu 37 2 215812212 215812212 + Silent SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 2 215812212 215812212 A G SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known silent c.7173 p.S2391 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 70 0 0 84 16 16 ZNF142 0 genome.wustl.edu 37 2 219508077 219508077 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 2 219508077 219508077 G A SNP ZNF142 ENST00000411696 human ensembl 74_37 -1 known silent c.3162 p.G1054 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 78 0 0 58 33 36.2637 GLB1L 0 genome.wustl.edu 37 2 220101991 220101991 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 2 220101991 220101991 T C SNP GLB1L ENST00000295759 human ensembl 74_37 -1 known missense c.1768 p.R590G 1.000 superfamily_Galactose-bd-like pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L HGNC ENSG00000163521 77 0 0 41 43 51.1905 C2orf71 0 genome.wustl.edu 37 2 29295113 29295113 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 2 29295113 29295113 T C SNP C2orf71 ENST00000331664 human ensembl 74_37 -1 known missense c.2015 p.K672R 0.984 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 125 0 0 28 82 74.5455 SLC8A1 0 genome.wustl.edu 37 2 40342635 40342635 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 2 40342635 40342635 C T SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known missense c.2680 p.A894T 0.200 pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 68 0 0 9 36 80 EPAS1 0 genome.wustl.edu 37 2 46607812 46607812 + Missense_Mutation SNP G G T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 2 46607812 46607812 G T SNP EPAS1 ENST00000263734 human ensembl 74_37 +1 known missense c.2001 p.L667F 0.929 NULL pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors EPAS1 HGNC ENSG00000116016 165 0 0 96 46 32.3944 PCBP1 0 genome.wustl.edu 37 2 70315843 70315843 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 2 70315843 70315843 C T SNP PCBP1 ENST00000303577 human ensembl 74_37 +1 known missense c.968 p.S323F 0.962 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP1 HGNC ENSG00000169564 56 0 0 63 12 16 CNGA3 0 genome.wustl.edu 37 2 99013602 99013602 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 2 99013602 99013602 A C SNP CNGA3 ENST00000272602 human ensembl 74_37 +1 known missense c.1969 p.K657Q 0.755 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA3 HGNC ENSG00000144191 51 0 0 28 24 46.1538 ACSS1 0 genome.wustl.edu 37 20 24990040 24990040 + RNA SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 20 24990040 24990040 A C SNP ACSS1 ENST00000484396 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ACSS1 HGNC ENSG00000154930 137 0 0 36 125 77.6398 NCOA6 0 genome.wustl.edu 37 20 33345129 33345129 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 20 33345129 33345129 C T SNP NCOA6 ENST00000359003 human ensembl 74_37 -1 known silent c.1422 p.P474 0.257 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 135 0 0 110 96 46.6019 PHACTR3 0 genome.wustl.edu 37 20 58411587 58411587 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 20 58411587 58411587 A C SNP PHACTR3 ENST00000371015 human ensembl 74_37 +1 known missense c.1356 p.E452D 1.000 pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR3 HGNC ENSG00000087495 38 0 0 43 31 41.8919 BHLHE23 0 genome.wustl.edu 37 20 61637712 61637712 + Missense_Mutation SNP G G T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 20 61637712 61637712 G T SNP BHLHE23 ENST00000370346 human ensembl 74_37 -1 known missense c.367 p.L123M 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors BHLHE23 HGNC ENSG00000125533 31 0 0 45 9 16.6667 BMP2 0 genome.wustl.edu 37 20 6759323 6759323 + Missense_Mutation SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 20 6759323 6759323 A G SNP BMP2 ENST00000378827 human ensembl 74_37 +1 known missense c.778 p.I260V 0.835 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP2 HGNC ENSG00000125845 40 0 0 37 5 11.9048 TPTE 0 genome.wustl.edu 37 21 10951264 10951264 + Splice_Site SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 21 10951264 10951264 A G SNP TPTE ENST00000361285 human ensembl 74_37 -1 known splice_site c.446+2 e7+2 1.000 - - - no_errors TPTE HGNC ENSG00000166157 60 0 0 29 3 9.375 SCAF4 0 genome.wustl.edu 37 21 33043943 33043943 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 21 33043943 33043943 C T SNP SCAF4 ENST00000286835 human ensembl 74_37 -1 known silent c.3213 p.E1071 0.990 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 133 0 0 90 16 15.0943 SCAF4 0 genome.wustl.edu 37 21 33044004 33044004 + Missense_Mutation SNP C C G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 21 33044004 33044004 C G SNP SCAF4 ENST00000286835 human ensembl 74_37 -1 known missense c.3152 p.R1051T 1.000 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 137 0 0 84 19 18.4466 SCAF4 0 genome.wustl.edu 37 21 33044064 33044064 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 21 33044064 33044064 C T SNP SCAF4 ENST00000286835 human ensembl 74_37 -1 known missense c.3092 p.R1031K 1.000 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 141 0 0 84 11 11.5789 SCAF4 0 genome.wustl.edu 37 21 33044066 33044066 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 21 33044066 33044066 C T SNP SCAF4 ENST00000286835 human ensembl 74_37 -1 known silent c.3090 p.R1030 1.000 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 140 0 0 83 12 12.6316 SCAF4 0 genome.wustl.edu 37 21 33076187 33076187 + Missense_Mutation SNP C C A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 21 33076187 33076187 C A SNP SCAF4 ENST00000286835 human ensembl 74_37 -1 known missense c.212 p.R71L 1.000 pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 31 0 0 20 34 62.963 ERG 0 genome.wustl.edu 37 21 39755334 39755334 + Silent SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 21 39755334 39755334 A C SNP ERG ENST00000398919 human ensembl 74_37 -1 known silent c.1452 p.T484 0.974 NULL pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ERG HGNC ENSG00000157554 22 0 0 6 14 70 LRRC3 0 genome.wustl.edu 37 21 45876639 45876639 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 21 45876639 45876639 C T SNP LRRC3 ENST00000291592 human ensembl 74_37 +1 known missense c.112 p.R38W 1.000 pfam_LRR-contain_N,smart_LRR-contain_N pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC3 HGNC ENSG00000160233 69 0 0 36 4 10 COL18A1-AS1 0 genome.wustl.edu 37 21 46842500 46842500 + RNA SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 21 46842500 46842500 C T SNP COL18A1-AS1 ENST00000397787 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors COL18A1-AS1 HGNC ENSG00000183535 10 0 0 2 7 77.7778 ZNF70 0 genome.wustl.edu 37 22 24086106 24086106 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 22 24086106 24086106 C T SNP ZNF70 ENST00000341976 human ensembl 74_37 -1 known missense c.1222 p.E408K 0.291 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF70 HGNC ENSG00000187792 193 0 0 27 69 71.875 MIOX 0 genome.wustl.edu 37 22 50926149 50926149 + Missense_Mutation SNP C C G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 22 50926149 50926149 C G SNP MIOX ENST00000216075 human ensembl 74_37 +1 known missense c.155 p.T52R 0.999 pfam_Inositol_oxygenase pfam_Inositol_oxygenase - no_errors MIOX HGNC ENSG00000100253 78 0 0 28 5 15.1515 PARP9 0 genome.wustl.edu 37 3 122274887 122274887 + Missense_Mutation SNP C C A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 3 122274887 122274887 C A SNP PARP9 ENST00000360356 human ensembl 74_37 -1 known missense c.236 p.R79L 0.000 NULL pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP9 HGNC ENSG00000138496 51 0 0 25 18 41.8605 C3orf27 0 genome.wustl.edu 37 3 128292250 128292250 + Missense_Mutation SNP C C A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 3 128292250 128292250 C A SNP C3orf27 ENST00000356020 human ensembl 74_37 -1 known missense c.323 p.G108V 0.000 NULL NULL - no_errors C3orf27 HGNC ENSG00000198685 89 0 0 31 27 46.5517 RBP2 0 genome.wustl.edu 37 3 139173592 139173592 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 3 139173592 139173592 A C SNP RBP2 ENST00000232217 human ensembl 74_37 -1 known missense c.333 p.I111M 0.041 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors RBP2 HGNC ENSG00000114113 100 0 0 56 30 34.8837 ZBBX 0 genome.wustl.edu 37 3 167023666 167023666 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 3 167023666 167023666 T C SNP ZBBX ENST00000307529 human ensembl 74_37 -1 known missense c.1490 p.E497G 0.000 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 13 0 0 27 11 28.9474 C3orf70 0 genome.wustl.edu 37 3 184801262 184801262 + Missense_Mutation SNP G G T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 3 184801262 184801262 G T SNP C3orf70 ENST00000335012 human ensembl 74_37 -1 known missense c.286 p.Q96K 0.998 NULL NULL - no_errors C3orf70 HGNC ENSG00000187068 115 0 0 45 41 47.6744 SENP2 0 genome.wustl.edu 37 3 185324165 185324165 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 3 185324165 185324165 G A SNP SENP2 ENST00000296257 human ensembl 74_37 +1 known missense c.497 p.R166H 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP2 HGNC ENSG00000163904 64 0 0 93 26 21.8487 MASP1 0 genome.wustl.edu 37 3 186954284 186954284 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 3 186954284 186954284 C T SNP MASP1 ENST00000296280 human ensembl 74_37 -1 known missense c.1375 p.G459S 1.000 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 154 0 0 162 16 8.98876 UBXN7 0 genome.wustl.edu 37 3 196129884 196129884 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 3 196129884 196129884 T G SNP UBXN7 ENST00000296328 human ensembl 74_37 -1 known missense c.228 p.E76D 1.000 pirsf_UCP037991_UAS/UBX pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pirsf_UCP037991_UAS/UBX,pfscan_UBX - no_errors UBXN7 HGNC ENSG00000163960 82 0 0 73 120 62.1762 EFHB 0 genome.wustl.edu 37 3 19974753 19974753 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 3 19974753 19974753 T C SNP EFHB ENST00000295824 human ensembl 74_37 -1 known missense c.758 p.K253R 0.996 NULL pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFHB HGNC ENSG00000163576 28 0 0 26 11 29.7297 SCN5A 0 genome.wustl.edu 37 3 38648286 38648286 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 3 38648286 38648286 G A SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known silent c.1014 p.G338 0.989 pfam_Ion_trans_dom 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 90 0 0 45 22 32.8358 SCN10A 0 genome.wustl.edu 37 3 38755486 38755486 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 3 38755486 38755486 C T SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.3767 p.R1256Q 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 124 0 0 74 30 28.8462 SCN11A 0 genome.wustl.edu 37 3 38888666 38888666 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 3 38888666 38888666 T G SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.4895 p.K1632T 1.000 prints_Na_channel_asu pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 110 0 0 76 56 42.4242 GMPPB 0 genome.wustl.edu 37 3 49760467 49760467 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 3 49760467 49760467 C T SNP GMPPB ENST00000308375 human ensembl 74_37 -1 known missense c.340 p.D114N 1.000 pfam_NTP_transferase pfam_NTP_transferase,pfam_Hexapep_transf - no_errors GMPPB HGNC ENSG00000173540 59 0 0 25 14 35.8974 CACNA2D3 0 genome.wustl.edu 37 3 55038828 55038828 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 3 55038828 55038828 A C SNP CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known missense c.2729 p.N910T 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 56 0 0 38 22 36.6667 EPHA3 0 genome.wustl.edu 37 3 89499325 89499325 + Splice_Site SNP A A T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 3 89499325 89499325 A T SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known splice_site c.2497-2 e15-2 1.000 - - - no_errors EPHA3 HGNC ENSG00000044524 39 0 0 28 17 37.7778 OR5AC2 0 genome.wustl.edu 37 3 97806056 97806056 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 3 97806056 97806056 T C SNP OR5AC2 ENST00000358642 human ensembl 74_37 +1 known missense c.40 p.F14L 0.568 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AC2 HGNC ENSG00000196578 127 0 0 109 79 42.0213 COL8A1 0 genome.wustl.edu 37 3 99513455 99513455 + Missense_Mutation SNP G G T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 3 99513455 99513455 G T SNP COL8A1 ENST00000261037 human ensembl 74_37 +1 known missense c.710 p.R237L 1.000 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC ENSG00000144810 149 0 0 72 47 39.4958 SCLT1 0 genome.wustl.edu 37 4 129913355 129913355 + Missense_Mutation SNP C C G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 4 129913355 129913355 C G SNP SCLT1 ENST00000281142 human ensembl 74_37 -1 known missense c.653 p.S218T 0.056 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 20 0 0 3 4 57.1429 PCDH10 0 genome.wustl.edu 37 4 134073102 134073102 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 4 134073102 134073102 G A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.1807 p.V603M 0.990 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 PCDH10 HGNC ENSG00000138650 68 0 0 4 30 88.2353 DCHS2 0 genome.wustl.edu 37 4 155237128 155237128 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 4 155237128 155237128 T C SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.3667 p.T1223A 0.034 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 40 0 0 6 25 80.6452 LRAT 0 genome.wustl.edu 37 4 155665550 155665550 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 4 155665550 155665550 C T SNP LRAT ENST00000336356 human ensembl 74_37 +1 known silent c.72 p.L24 0.490 NULL pfam_LRAT-like_dom - no_errors LRAT HGNC ENSG00000121207 84 0 0 9 17 65.3846 GABRB1 0 genome.wustl.edu 37 4 47427934 47427934 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 4 47427934 47427934 G A SNP GABRB1 ENST00000295454 human ensembl 74_37 +1 known missense c.1324 p.D442N 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAb_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB1 HGNC ENSG00000163288 126 0 0 29 80 73.3945 AASDH 0 genome.wustl.edu 37 4 57204777 57204777 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 4 57204777 57204777 A C SNP AASDH ENST00000205214 human ensembl 74_37 -1 known missense c.3088 p.Y1030D 0.001 superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like - no_errors AASDH HGNC ENSG00000157426 48 0 0 55 6 9.83607 DMP1 0 genome.wustl.edu 37 4 88583780 88583780 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 4 88583780 88583780 G A SNP DMP1 ENST00000339673 human ensembl 74_37 +1 known missense c.850 p.D284N 0.063 pfam_DMP1 pfam_DMP1 - no_errors DMP1 HGNC ENSG00000152592 35 0 0 27 10 27.027 SLC12A7 0 genome.wustl.edu 37 5 1052500 1052500 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 5 1052500 1052500 C T SNP SLC12A7 ENST00000264930 human ensembl 74_37 -1 known missense c.3227 p.R1076Q 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 123 0 0 220 16 6.77966 CAMK4 0 genome.wustl.edu 37 5 110712611 110712611 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 5 110712611 110712611 A C SNP CAMK4 ENST00000282356 human ensembl 74_37 +1 known missense c.357 p.E119D 0.989 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK4 HGNC ENSG00000152495 72 0 0 45 64 58.7156 FAM170A 0 genome.wustl.edu 37 5 118968544 118968544 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 5 118968544 118968544 T C SNP FAM170A ENST00000515256 human ensembl 74_37 +1 known missense c.172 p.C58R 1.000 NULL NULL - no_errors FAM170A HGNC ENSG00000164334 102 0 0 31 31 50 LECT2 0 genome.wustl.edu 37 5 135286988 135286988 + Silent SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 5 135286988 135286988 A G SNP LECT2 ENST00000274507 human ensembl 74_37 -1 known silent c.213 p.T71 0.332 pfam_Peptidase_M23,pirsf_LECT2_chordata pfam_Peptidase_M23,pirsf_LECT2_chordata - no_errors LECT2 HGNC ENSG00000145826 49 0 0 24 31 56.3636 PCDHA1 0 genome.wustl.edu 37 5 140168189 140168189 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 5 140168189 140168189 T G SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known missense c.2314 p.F772V 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 37 0 0 15 20 57.1429 PCDHB10 0 genome.wustl.edu 37 5 140573285 140573285 + Missense_Mutation SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 5 140573285 140573285 A G SNP PCDHB10 ENST00000239446 human ensembl 74_37 +1 known missense c.1160 p.E387G 0.014 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 PCDHB10 HGNC ENSG00000120324 87 0 0 60 4 6.25 PCDHGA9 0 genome.wustl.edu 37 5 140782734 140782734 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 5 140782734 140782734 C T SNP PCDHGA9 ENST00000573521 human ensembl 74_37 +1 known missense c.215 p.T72M 0.153 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA9 HGNC ENSG00000261934 108 0 0 83 15 15.3061 MIR218-2 0 genome.wustl.edu 37 5 168195242 168195242 + RNA SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 5 168195242 168195242 A C SNP MIR218-2 ENST00000385006 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR218-2 HGNC ENSG00000207739 12 0 0 1 7 87.5 LOC728554 0 genome.wustl.edu 37 5 177309432 177309432 + RNA SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 5 177309432 177309432 A C SNP LOC728554 ENST00000506672 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-423H2.1 Clone_based_vega_gene ENSG00000170089 93 0 0 46 18 28.125 RXFP3 0 genome.wustl.edu 37 5 33938145 33938145 + Missense_Mutation SNP C C A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 5 33938145 33938145 C A SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known missense c.1300 p.P434T 0.870 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 47 0 0 14 24 63.1579 SLC45A2 0 genome.wustl.edu 37 5 33951636 33951636 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 5 33951636 33951636 C T SNP SLC45A2 ENST00000345083 human ensembl 74_37 -1 known silent c.855 p.R285 0.000 NULL superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A2 HGNC ENSG00000164175 91 0 0 103 14 11.9658 ADAMTS16 0 genome.wustl.edu 37 5 5187859 5187859 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 5 5187859 5187859 G A SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.985 p.G329R 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 28 0 0 49 6 10.9091 GZMA 0 genome.wustl.edu 37 5 54405934 54405934 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 5 54405934 54405934 G A SNP GZMA ENST00000274306 human ensembl 74_37 +1 known missense c.713 p.R238H 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors GZMA HGNC ENSG00000145649 83 0 0 74 6 7.5 IL31RA 0 genome.wustl.edu 37 5 55185823 55185823 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 5 55185823 55185823 G A SNP IL31RA ENST00000447346 human ensembl 74_37 +1 known missense c.632 p.R211H 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL31RA HGNC ENSG00000164509 54 0 0 19 32 62.7451 CCDC125 0 genome.wustl.edu 37 5 68578671 68578671 + Missense_Mutation SNP C C G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 5 68578671 68578671 C G SNP CCDC125 ENST00000396496 human ensembl 74_37 -1 known missense c.1421 p.S474T 0.001 NULL NULL - no_errors CCDC125 HGNC ENSG00000183323 67 0 0 91 28 23.5294 NBPF22P 0 genome.wustl.edu 37 5 85578599 85578599 + RNA SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 5 85578599 85578599 G A SNP NBPF22P ENST00000590707 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NBPF22P HGNC ENSG00000205449 110 0 0 36 31 46.2687 ASCC3 0 genome.wustl.edu 37 6 101099456 101099456 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 6 101099456 101099456 C T SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known missense c.3055 p.E1019K 1.000 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 20 0 0 18 2 10 GRIK2 0 genome.wustl.edu 37 6 102307263 102307263 + Silent SNP C C A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 6 102307263 102307263 C A SNP GRIK2 ENST00000421544 human ensembl 74_37 +1 known silent c.1419 p.I473 1.000 pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 34 0 0 61 23 27.381 C6orf58 0 genome.wustl.edu 37 6 127901484 127901484 + Missense_Mutation SNP C C A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 6 127901484 127901484 C A SNP C6orf58 ENST00000329722 human ensembl 74_37 +1 known missense c.463 p.Q155K 0.043 pfam_DUF781 pfam_DUF781 - no_errors C6orf58 HGNC ENSG00000184530 66 0 0 119 14 10.5263 LAMA2 0 genome.wustl.edu 37 6 129381032 129381032 + Missense_Mutation SNP T T A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 6 129381032 129381032 T A SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.387 p.D129E 0.993 pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 32 0 0 48 7 12.7273 MOXD1 0 genome.wustl.edu 37 6 132618968 132618968 + Silent SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 6 132618968 132618968 T C SNP MOXD1 ENST00000367963 human ensembl 74_37 -1 known silent c.1635 p.P545 0.063 prints_Dopamine_b_mOase pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors MOXD1 HGNC ENSG00000079931 85 0 0 74 36 32.7273 BCLAF1 0 genome.wustl.edu 37 6 136597032 136597032 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 6 136597032 136597032 C T SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known missense c.1631 p.R544H 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 210 0 0 284 30 9.55414 RNF182 0 genome.wustl.edu 37 6 13977616 13977616 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 6 13977616 13977616 T G SNP RNF182 ENST00000488300 human ensembl 74_37 +1 known missense c.266 p.V89G 0.035 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF182 HGNC ENSG00000180537 94 0 0 13 69 84.1463 SYNE1 0 genome.wustl.edu 37 6 152469370 152469370 + Silent SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 6 152469370 152469370 A G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.24786 p.A8262 0.913 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 64 0 0 27 44 61.9718 SYNE1 0 genome.wustl.edu 37 6 152671375 152671375 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 6 152671375 152671375 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.11829 p.G3943 0.996 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 91 0 0 73 26 26.2626 TAGAP 0 genome.wustl.edu 37 6 159462400 159462400 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 6 159462400 159462400 C T SNP TAGAP ENST00000367066 human ensembl 74_37 -1 known missense c.463 p.A155T 0.985 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors TAGAP HGNC ENSG00000164691 88 0 0 80 22 21.5686 TCP1 0 genome.wustl.edu 37 6 160201120 160201120 + Splice_Site SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 6 160201120 160201120 C T SNP TCP1 ENST00000321394 human ensembl 74_37 -1 known splice_site c.1098-1 e10-1 1.000 - - - no_errors TCP1 HGNC ENSG00000120438 62 0 0 95 7 6.86275 HIST1H1C 0 genome.wustl.edu 37 6 26056613 26056613 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 6 26056613 26056613 G A SNP HIST1H1C ENST00000343677 human ensembl 74_37 -1 known missense c.44 p.A15V 0.996 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1C HGNC ENSG00000187837 102 0 0 16 65 80.2469 HIST1H1D 0 genome.wustl.edu 37 6 26234947 26234947 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 6 26234947 26234947 T C SNP HIST1H1D ENST00000244534 human ensembl 74_37 -1 known missense c.215 p.Y72C 1.000 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1D HGNC ENSG00000124575 174 0 0 99 21 17.5 HLA-DPA1 0 genome.wustl.edu 37 6 33036858 33036858 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 6 33036858 33036858 T C SNP HLA-DPA1 ENST00000419277 human ensembl 74_37 -1 known missense c.566 p.E189G 0.088 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_II_a_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DPA1 HGNC ENSG00000231389 218 0 0 210 41 16.3347 SPACA1 0 genome.wustl.edu 37 6 88774121 88774121 + RNA SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 6 88774121 88774121 T C SNP SPACA1 ENST00000462690 human ensembl 74_37 +1 known rna NULL NULL 0.028 - - - no_errors SPACA1 HGNC ENSG00000118434 19 0 0 10 16 61.5385 MUC17 0 genome.wustl.edu 37 7 100683595 100683595 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 7 100683595 100683595 T G SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.8898 p.S2966R 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 487 0 0 223 274 55.1308 MUC17 0 genome.wustl.edu 37 7 100685676 100685676 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 7 100685676 100685676 T G SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.10979 p.V3660G 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 265 1 0.37594 112 137 55.0201 RELN 0 genome.wustl.edu 37 7 103179704 103179704 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 7 103179704 103179704 T G SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.7001 p.K2334T 0.993 NULL pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 44 0 0 31 40 56.338 DOCK4 0 genome.wustl.edu 37 7 111580168 111580168 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 7 111580168 111580168 T C SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known missense c.974 p.Y325C 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 65 0 0 50 25 33.3333 FLNC 0 genome.wustl.edu 37 7 128496648 128496648 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 7 128496648 128496648 G A SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.7328 p.R2443Q 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 83 0 0 38 47 55.2941 ENSG00000240571 0 genome.wustl.edu 37 7 129845147 129845147 + RNA SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 7 129845147 129845147 C T SNP ENSG00000240571 ENST00000483283 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-775D22.3 Clone_based_vega_gene ENSG00000240571 95 0 0 98 36 26.8657 CLCN1 0 genome.wustl.edu 37 7 143013331 143013331 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 7 143013331 143013331 G A SNP CLCN1 ENST00000343257 human ensembl 74_37 +1 known missense c.26 p.R9H 0.000 prints_Cl_channel-1 pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1 - no_errors CLCN1 HGNC ENSG00000188037 110 0 0 94 38 28.7879 AOAH 0 genome.wustl.edu 37 7 36588291 36588291 + Silent SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 7 36588291 36588291 A G SNP AOAH ENST00000258749 human ensembl 74_37 -1 known silent c.1060 p.L354 1.000 pfam_Lipase_GDSL pfam_Lipase_GDSL,pfam_SapB_2,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB - no_errors AOAH HGNC ENSG00000136250 65 0 0 80 26 24.5283 ELMO1 0 genome.wustl.edu 37 7 37272780 37272780 + Missense_Mutation SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 7 37272780 37272780 A G SNP ELMO1 ENST00000310758 human ensembl 74_37 -1 known missense c.469 p.F157L 1.000 pfam_DUF3361,superfamily_ARM-type_fold pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 30 0 0 27 12 30.7692 FAM220A 0 genome.wustl.edu 37 7 6370607 6370607 + Missense_Mutation SNP G G T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 7 6370607 6370607 G T SNP FAM220A ENST00000313324 human ensembl 74_37 -1 known missense c.179 p.A60E 0.000 NULL NULL - no_errors FAM220A HGNC ENSG00000178397 84 0 0 66 22 25 POM121 0 genome.wustl.edu 37 7 72416237 72416237 + Silent SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 7 72416237 72416237 T G SNP POM121 ENST00000434423 human ensembl 74_37 +1 known silent c.3642 p.V1214 0.013 NULL NULL - no_errors POM121 HGNC ENSG00000196313 26 0 0 16 6 27.2727 LIMK1 0 genome.wustl.edu 37 7 73530169 73530169 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 7 73530169 73530169 G A SNP LIMK1 ENST00000336180 human ensembl 74_37 +1 known missense c.1448 p.R483H 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK1 HGNC ENSG00000106683 77 0 0 46 24 34.2857 MAGI2 0 genome.wustl.edu 37 7 77885499 77885499 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 7 77885499 77885499 A C SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known missense c.1808 p.L603R 1.000 superfamily_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 37 0 0 29 14 32.5581 ICA1 0 genome.wustl.edu 37 7 8167572 8167572 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 7 8167572 8167572 T C SNP ICA1 ENST00000422063 human ensembl 74_37 -1 known missense c.1348 p.T450A 0.000 pfam_Islet_autoAg_Ica1_C pfam_AH_dom,pfam_Islet_autoAg_Ica1_C,pfscan_AH_dom - no_errors ICA1 HGNC ENSG00000003147 236 0 0 240 13 5.13834 PPP1R9A 0 genome.wustl.edu 37 7 94539454 94539454 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 7 94539454 94539454 G A SNP PPP1R9A ENST00000289495 human ensembl 74_37 +1 known missense c.29 p.R10Q 1.000 NULL pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 40 0 0 52 22 29.7297 RIMS2 0 genome.wustl.edu 37 8 104948824 104948824 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 8 104948824 104948824 A C SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.2421 p.E807D 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 53 0 0 115 12 9.44882 TRAPPC9 0 genome.wustl.edu 37 8 141407835 141407835 + Missense_Mutation SNP C C G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 8 141407835 141407835 C G SNP TRAPPC9 ENST00000389328 human ensembl 74_37 -1 known missense c.1312 p.A438P 1.000 NULL pfam_TRAPP_II_complex_Trs120 - no_errors TRAPPC9 HGNC ENSG00000167632 100 0 0 18 91 83.4862 ZC3H3 0 genome.wustl.edu 37 8 144550422 144550422 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 8 144550422 144550422 G A SNP ZC3H3 ENST00000262577 human ensembl 74_37 -1 known missense c.2132 p.T711M 0.991 smart_Znf_CCCH pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ENSG00000014164 69 0 0 10 34 77.2727 CSMD1 0 genome.wustl.edu 37 8 2820743 2820743 + Splice_Site SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 8 2820743 2820743 C T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known splice_site c.9457+1 e61+1 1.000 - - - no_errors CSMD1 HGNC ENSG00000183117 118 0 0 69 45 39.4737 FGFR1 0 genome.wustl.edu 37 8 38275476 38275476 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 8 38275476 38275476 G A SNP FGFR1 ENST00000425967 human ensembl 74_37 -1 known silent c.1557 p.C519 1.000 pirsf_FGF_rcpt_fam,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_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR1 HGNC ENSG00000077782 69 0 0 55 23 29.4872 TDRP 0 genome.wustl.edu 37 8 442692 442692 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 8 442692 442692 A C SNP TDRP ENST00000427263 human ensembl 74_37 -1 known missense c.265 p.W89G 1.000 NULL NULL - no_errors TDRP HGNC ENSG00000180190 38 0 0 17 35 67.3077 RGS20 0 genome.wustl.edu 37 8 54791938 54791938 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 8 54791938 54791938 G A SNP RGS20 ENST00000297313 human ensembl 74_37 +1 known missense c.286 p.E96K 0.001 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS20 HGNC ENSG00000147509 135 0 0 78 74 48.6842 ENSG00000241431 0 genome.wustl.edu 37 8 57501102 57501102 + RNA SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 8 57501102 57501102 A C SNP ENSG00000241431 ENST00000464216 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-17A4.1 Clone_based_vega_gene ENSG00000241431 60 0 0 11 60 84.507 XKR9 0 genome.wustl.edu 37 8 71646212 71646212 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 8 71646212 71646212 C T SNP XKR9 ENST00000408926 human ensembl 74_37 +1 known silent c.675 p.F225 0.117 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR9 HGNC ENSG00000221947 28 0 0 54 21 28 TRPA1 0 genome.wustl.edu 37 8 72981358 72981358 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 8 72981358 72981358 T G SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.344 p.K115T 0.267 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 134 0 0 124 123 49.7976 OR13C4 0 genome.wustl.edu 37 9 107288559 107288559 + Missense_Mutation SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 9 107288559 107288559 A G SNP OR13C4 ENST00000277216 human ensembl 74_37 -1 known missense c.932 p.L311P 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C4 HGNC ENSG00000148136 64 0 0 58 56 49.1228 TNC 0 genome.wustl.edu 37 9 117826111 117826111 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 9 117826111 117826111 A C SNP TNC ENST00000350763 human ensembl 74_37 -1 known missense c.3724 p.F1242V 0.996 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 92 0 0 95 37 28.0303 OR1J1 0 genome.wustl.edu 37 9 125239555 125239555 + Silent SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 9 125239555 125239555 A G SNP OR1J1 ENST00000259357 human ensembl 74_37 -1 known silent c.651 p.S217 0.992 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 OR1J1 HGNC ENSG00000136834 61 0 0 69 47 40.5172 LCN2 0 genome.wustl.edu 37 9 130911881 130911881 + Missense_Mutation SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 9 130911881 130911881 A G SNP LCN2 ENST00000372998 human ensembl 74_37 +1 known missense c.77 p.D26G 0.000 superfamily_Calycin-like,prints_N_gelatinase pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_N_gelatinase,prints_PstgldnD_synth,prints_Lipocalin,prints_A1-microglobln - no_errors LCN2 HGNC ENSG00000148346 112 0 0 125 10 7.40741 MPDZ 0 genome.wustl.edu 37 9 13126741 13126741 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 9 13126741 13126741 C T SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known missense c.4495 p.E1499K 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 53 0 0 30 6 16.6667 GBGT1 0 genome.wustl.edu 37 9 136028886 136028886 + RNA SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 9 136028886 136028886 G A SNP GBGT1 ENST00000470431 human ensembl 74_37 -1 known rna NULL NULL 0.022 - - - no_errors GBGT1 HGNC ENSG00000148288 56 0 0 26 39 60 ABCA2 0 genome.wustl.edu 37 9 139905615 139905615 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 9 139905615 139905615 C T SNP ABCA2 ENST00000459850 human ensembl 74_37 -1 known silent c.6033 p.G2011 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 62 0 0 56 39 41.0526 FREM1 0 genome.wustl.edu 37 9 14788940 14788940 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 9 14788940 14788940 A C SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known missense c.4157 p.I1386S 1.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 20 0 0 3 8 72.7273 ADAMTSL1 0 genome.wustl.edu 37 9 18622378 18622378 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 9 18622378 18622378 C T SNP ADAMTSL1 ENST00000380570 human ensembl 74_37 +1 putative silent c.612 p.H204 0.000 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL1 HGNC ENSG00000178031 54 0 0 14 19 57.5758 TOPORS 0 genome.wustl.edu 37 9 32542941 32542941 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 9 32542941 32542941 C T SNP TOPORS ENST00000360538 human ensembl 74_37 -1 known missense c.1582 p.D528N 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors TOPORS HGNC ENSG00000197579 91 0 0 93 10 9.70874 SPATA31A2 0 genome.wustl.edu 37 9 39888103 39888103 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 9 39888103 39888103 C T SNP SPATA31A2 ENST00000456183 human ensembl 74_37 +1 known missense c.1090 p.R364W 0.090 NULL NULL - no_errors SPATA31A2 HGNC ENSG00000204848 71 0 0 29 34 53.9683 ZNF658 0 genome.wustl.edu 37 9 40774112 40774112 + Missense_Mutation SNP T T A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 9 40774112 40774112 T A SNP ZNF658 ENST00000377626 human ensembl 74_37 -1 known missense c.1163 p.K388I 0.995 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 ZNF658 HGNC ENSG00000196409 165 0 0 147 119 44.7368 TRPM3 0 genome.wustl.edu 37 9 73233962 73233962 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 9 73233962 73233962 C T SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known missense c.2224 p.D742N 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 45 0 0 20 14 41.1765 NFIL3 0 genome.wustl.edu 37 9 94172104 94172104 + Missense_Mutation SNP G G C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 9 94172104 94172104 G C SNP NFIL3 ENST00000297689 human ensembl 74_37 -1 known missense c.913 p.L305V 0.377 pfam_Vert_IL3-reg_TF,pirsf_TF_bZIP_E4BP4 pfam_Vert_IL3-reg_TF,pfam_bZIP,smart_bZIP,pirsf_TF_bZIP_E4BP4,pfscan_bZIP - no_errors NFIL3 HGNC ENSG00000165030 150 0 0 158 9 5.38922 ARMCX1 0 genome.wustl.edu 37 X 100808487 100808487 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c X 100808487 100808487 T G SNP ARMCX1 ENST00000372829 human ensembl 74_37 +1 known missense c.574 p.F192V 0.889 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMCX1 HGNC ENSG00000126947 116 0 0 24 78 76.4706 PAK3 0 genome.wustl.edu 37 X 110463599 110463599 + Missense_Mutation SNP A A T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c X 110463599 110463599 A T SNP PAK3 ENST00000360648 human ensembl 74_37 +1 known missense c.1667 p.K556I 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK3 HGNC ENSG00000077264 12 0 0 7 4 36.3636 TRPC5 0 genome.wustl.edu 37 X 111020004 111020004 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c X 111020004 111020004 G A SNP TRPC5 ENST00000262839 human ensembl 74_37 -1 known missense c.2459 p.S820F 0.057 prints_TRPC5_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 113 0 0 56 50 47.1698 MAGEA6 0 genome.wustl.edu 37 X 151869966 151869966 + Missense_Mutation SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c X 151869966 151869966 A G SNP MAGEA6 ENST00000329342 human ensembl 74_37 +1 known missense c.656 p.E219G 0.243 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA6 HGNC ENSG00000197172 180 0 0 25 79 75.9615 RBBP7 0 genome.wustl.edu 37 X 16876866 16876866 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c X 16876866 16876866 G A SNP RBBP7 ENST00000380087 human ensembl 74_37 -1 known silent c.414 p.I138 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RBBP7 HGNC ENSG00000102054 28 0 0 5 59 92.1875 CCNB3 0 genome.wustl.edu 37 X 50052016 50052016 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c X 50052016 50052016 T G SNP CCNB3 ENST00000276014 human ensembl 74_37 +1 known missense c.847 p.L283V 0.000 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 48 0 0 17 47 73.4375 WNK3 0 genome.wustl.edu 37 X 54263946 54263946 + Silent SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c X 54263946 54263946 T G SNP WNK3 ENST00000354646 human ensembl 74_37 -1 known silent c.4053 p.T1351 0.678 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK3 HGNC ENSG00000196632 20 0 0 9 26 74.2857 PJA1 0 genome.wustl.edu 37 X 68382960 68382960 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c X 68382960 68382960 C T SNP PJA1 ENST00000361478 human ensembl 74_37 -1 known missense c.122 p.R41Q 0.949 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA1 HGNC ENSG00000181191 126 0 0 33 30 47.619 ERCC6L 0 genome.wustl.edu 37 X 71426113 71426113 + Missense_Mutation SNP C C G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c X 71426113 71426113 C G SNP ERCC6L ENST00000334463 human ensembl 74_37 -1 known missense c.2504 p.S835T 0.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L HGNC ENSG00000186871 15 0 0 9 5 35.7143 PHKA1 0 genome.wustl.edu 37 X 71830971 71830971 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c X 71830971 71830971 G A SNP PHKA1 ENST00000373539 human ensembl 74_37 -1 known silent c.2433 p.T811 0.016 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC ENSG00000067177 30 0 0 16 10 38.4615 SLC16A2 0 genome.wustl.edu 37 X 73745699 73745699 + Missense_Mutation SNP A A T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c X 73745699 73745699 A T SNP SLC16A2 ENST00000276033 human ensembl 74_37 +1 known missense c.1363 p.I455F 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A2 HGNC ENSG00000147100 31 0 0 5 13 72.2222 KAL1 0 genome.wustl.edu 37 X 8555989 8555989 + Missense_Mutation SNP C C A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c X 8555989 8555989 C A SNP KAL1 ENST00000262648 human ensembl 74_37 -1 known missense c.572 p.R191L 0.911 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_WAP-type_4-diS_core - no_errors KAL1 HGNC ENSG00000011201 12 0 0 5 11 68.75 OR52D1 0 genome.wustl.edu 37 11 5509961 5509961 + Frame_Shift_Del DEL A A - TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 11 5509961 5509961 A - DEL OR52D1 ENST00000322641 human ensembl 74_37 +1 known frame_shift_del c.25 p.N9fs 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52D1 HGNC ENSG00000181609 76 0 0 52 10 16.129 KDM4D 0 genome.wustl.edu 37 11 94730806 94730807 + Frame_Shift_Ins INS - - A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 11 94730806 94730807 - A INS KDM4D ENST00000335080 human ensembl 74_37 +1 known frame_shift_ins c.270_271 p.K93fs 0.601:0.600 NULL pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4D HGNC ENSG00000186280 101 1 0.980392 67 27 28.7234 TM7SF3 0 genome.wustl.edu 37 12 27152716 27152717 + RNA INS - - A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 12 27152716 27152717 - A INS TM7SF3 ENST00000539399 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors TM7SF3 HGNC ENSG00000064115 9 0 0 57 42 42.4242 AMIGO2 0 genome.wustl.edu 37 12 47471749 47471749 + Frame_Shift_Del DEL C C - TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 12 47471749 47471749 C - DEL AMIGO2 ENST00000266581 human ensembl 74_37 -1 known frame_shift_del c.1037 p.G346fs 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_Ig-like_dom - no_errors AMIGO2 HGNC ENSG00000139211 114 0 0 230 27 10.5058 ENSG00000271011 0 genome.wustl.edu 37 2 179442293 179442293 + RNA DEL A A - TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 2 179442293 179442293 A - DEL ENSG00000271011 ENST00000604215 human ensembl 74_37 +1 known rna NULL NULL 0.038 - - - no_errors RP11-171I2.5 Clone_based_vega_gene ENSG00000271011 16 0 0 20 18 47.3684 DEFB118 0 genome.wustl.edu 37 20 29960672 29960672 + Frame_Shift_Del DEL A A - TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 20 29960672 29960672 A - DEL DEFB118 ENST00000253381 human ensembl 74_37 +1 known frame_shift_del c.71 p.K26fs 0.000 NULL NULL - no_errors DEFB118 HGNC ENSG00000131068 34 0 0 51 31 37.8049 RUFY3 0 genome.wustl.edu 37 4 71644096 71644098 + In_Frame_Del DEL AAC AAC - TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 AAC AAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 4 71644096 71644098 AAC - DEL RUFY3 ENST00000417478 human ensembl 74_37 +1 known in_frame_del c.1015_1017 p.N340in_frame_del 1.000:1.000:1.000 superfamily_Prefoldin pfam_Run,superfamily_Prefoldin,smart_Run,pfscan_Run - no_errors RUFY3 HGNC ENSG00000018189 34 0 0 3 10 76.9231 FAT2 0 genome.wustl.edu 37 5 150946485 150946486 + Frame_Shift_Del DEL AT AT - TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 5 150946485 150946486 AT - DEL FAT2 ENST00000261800 human ensembl 74_37 -1 known frame_shift_del c.2008_2007 p.C670fs 0.999:0.000 NULL pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 90 0 0 81 10 10.989 SLC26A7 0 genome.wustl.edu 37 8 92406217 92406218 + Frame_Shift_Ins INS - - T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c 8 92406217 92406218 - T INS SLC26A7 ENST00000309536 human ensembl 74_37 +1 known frame_shift_ins c.1885_1886 p.E632fs 0.988:0.996 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A7 HGNC ENSG00000147606 62 0 0 74 33 30.8411