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 LOC100129138 0 genome.wustl.edu 37 1 104615911 104615911 + RNA SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 1 104615911 104615911 T G SNP LOC100129138 ENST00000418362 human ensembl 74_37 +1 known rna NULL NULL 0.020 - - - no_errors RP11-364B6.1 Clone_based_vega_gene ENSG00000215869 15 0 0 15 4 21.0526 PRAMEF4 0 genome.wustl.edu 37 1 12939698 12939698 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 1 12939698 12939698 T G SNP PRAMEF4 ENST00000235349 human ensembl 74_37 -1 known missense c.1104 p.Q368H 0.002 NULL NULL - no_errors PRAMEF4 HGNC ENSG00000243073 298 0 0 173 119 40.7534 PDE4DIP 0 genome.wustl.edu 37 1 144952198 144952198 + Nonstop_Mutation SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 1 144952198 144952198 T C SNP PDE4DIP ENST00000369348 human ensembl 74_37 -1 known nonstop c.932 p.*311W 0.977 NULL pfam_Spindle_assoc - no_errors PDE4DIP HGNC ENSG00000178104 118 1 0.840336 128 22 14.6667 FLG2 0 genome.wustl.edu 37 1 152327439 152327439 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 1 152327439 152327439 A C SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.2823 p.S941R 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 288 0 0 355 117 24.7881 FLG2 0 genome.wustl.edu 37 1 152327670 152327670 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 1 152327670 152327670 A C SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.2592 p.S864R 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 176 0 0 254 22 7.97101 LMNA 0 genome.wustl.edu 37 1 156100427 156100427 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 1 156100427 156100427 G A SNP LMNA ENST00000368300 human ensembl 74_37 +1 known missense c.376 p.D126N 1.000 pfam_IF pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNA HGNC ENSG00000160789 40 0 0 28 11 28.2051 CD1C 0 genome.wustl.edu 37 1 158259869 158259869 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 1 158259869 158259869 G A SNP CD1C ENST00000368170 human ensembl 74_37 +1 known silent c.15 p.Q5 0.000 NULL pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1C HGNC ENSG00000158481 80 0 0 57 26 31.3253 CD1B 0 genome.wustl.edu 37 1 158298772 158298772 + Missense_Mutation SNP C C G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 1 158298772 158298772 C G SNP CD1B ENST00000368168 human ensembl 74_37 -1 known missense c.919 p.A307P 0.003 NULL pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1B HGNC ENSG00000158485 53 0 0 54 11 16.9231 OR6Y1 0 genome.wustl.edu 37 1 158517014 158517014 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 1 158517014 158517014 A C SNP OR6Y1 ENST00000302617 human ensembl 74_37 -1 known missense c.882 p.I294M 0.981 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6Y1 HGNC ENSG00000197532 88 0 0 70 31 30.6931 OR10J3 0 genome.wustl.edu 37 1 159283665 159283665 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 1 159283665 159283665 T G SNP OR10J3 ENST00000332217 human ensembl 74_37 -1 known missense c.785 p.K262T 1.000 pfam_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J3 HGNC ENSG00000196266 65 0 0 77 28 26.6667 OR10J3 0 genome.wustl.edu 37 1 159284373 159284373 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 1 159284373 159284373 A C SNP OR10J3 ENST00000332217 human ensembl 74_37 -1 known missense c.77 p.L26R 0.093 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J3 HGNC ENSG00000196266 165 0 0 134 48 26.3736 OLFML2B 0 genome.wustl.edu 37 1 161987209 161987209 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 1 161987209 161987209 C T SNP OLFML2B ENST00000294794 human ensembl 74_37 -1 known missense c.527 p.R176Q 0.996 NULL pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 60 0 0 35 45 56.25 DDR2 0 genome.wustl.edu 37 1 162741933 162741933 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 1 162741933 162741933 G A SNP DDR2 ENST00000367921 human ensembl 74_37 +1 known missense c.1624 p.A542T 1.000 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC ENSG00000162733 32 0 0 22 11 33.3333 SELP 0 genome.wustl.edu 37 1 169562867 169562867 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 1 169562867 169562867 G A SNP SELP ENST00000263686 human ensembl 74_37 -1 known silent c.2383 p.L795 0.998 NULL pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELP HGNC ENSG00000174175 38 0 0 43 17 28.3333 TNN 0 genome.wustl.edu 37 1 175046771 175046771 + Silent SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 1 175046771 175046771 T C SNP TNN ENST00000239462 human ensembl 74_37 +1 known silent c.217 p.L73 0.000 NULL 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_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 29 0 0 35 12 25.5319 PAPPA2 0 genome.wustl.edu 37 1 176681096 176681096 + Silent SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 1 176681096 176681096 A G SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known silent c.3777 p.K1259 0.058 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 66 0 0 48 27 36 UBR4 0 genome.wustl.edu 37 1 19489100 19489100 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 1 19489100 19489100 C T SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known silent c.4770 p.V1590 0.985 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 20 0 0 22 13 37.1429 KCNT2 0 genome.wustl.edu 37 1 196227371 196227371 + Missense_Mutation SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 1 196227371 196227371 A G SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.3164 p.L1055P 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 53 0 0 64 22 25.5814 KCNT2 0 genome.wustl.edu 37 1 196250004 196250004 + Missense_Mutation SNP G G T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 1 196250004 196250004 G T SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.2896 p.L966I 0.979 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 36 0 0 37 17 31.4815 CFHR3 0 genome.wustl.edu 37 1 196757392 196757392 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 1 196757392 196757392 C T SNP CFHR3 ENST00000367425 human ensembl 74_37 +1 known silent c.477 p.S159 0.026 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR3 HGNC ENSG00000116785 13 0 0 19 4 17.3913 FMOD 0 genome.wustl.edu 37 1 203317143 203317143 + Missense_Mutation SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 1 203317143 203317143 A G SNP FMOD ENST00000354955 human ensembl 74_37 -1 known missense c.256 p.F86L 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 FMOD HGNC ENSG00000122176 8 0 0 21 9 30 PCNXL2 0 genome.wustl.edu 37 1 233344423 233344423 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 1 233344423 233344423 T G SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known missense c.2704 p.I902L 1.000 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 47 0 0 39 16 29.0909 RYR2 0 genome.wustl.edu 37 1 237608821 237608821 + Missense_Mutation SNP A A T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 1 237608821 237608821 A T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.1285 p.R429W 1.000 NULL 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,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 29 0 0 34 6 15 MYOM3 0 genome.wustl.edu 37 1 24413270 24413270 + Silent SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 1 24413270 24413270 A G SNP MYOM3 ENST00000330966 human ensembl 74_37 -1 known silent c.1665 p.P555 0.835 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM3 HGNC ENSG00000142661 65 0 0 43 4 8.51064 AHCTF1 0 genome.wustl.edu 37 1 247021041 247021041 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 1 247021041 247021041 G A SNP AHCTF1 ENST00000326225 human ensembl 74_37 -1 known missense c.4235 p.P1412L 0.000 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors AHCTF1 HGNC ENSG00000153207 31 0 0 47 3 6 OR14A16 0 genome.wustl.edu 37 1 247978545 247978545 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 1 247978545 247978545 A C SNP OR14A16 ENST00000357627 human ensembl 74_37 -1 known missense c.487 p.S163A 0.011 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14A16 HGNC ENSG00000196772 65 0 0 114 29 20.2797 COL16A1 0 genome.wustl.edu 37 1 32120438 32120438 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 1 32120438 32120438 C T SNP COL16A1 ENST00000271069 human ensembl 74_37 -1 known missense c.4312 p.E1438K 1.000 NULL pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL16A1 HGNC ENSG00000084636 187 0 0 91 56 38.0952 MAP7D1 0 genome.wustl.edu 37 1 36636835 36636835 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 1 36636835 36636835 C T SNP MAP7D1 ENST00000373151 human ensembl 74_37 +1 known missense c.310 p.R104W 0.555 NULL pfam_MAP7 - no_errors MAP7D1 HGNC ENSG00000116871 57 0 0 31 3 8.82353 PTPRF 0 genome.wustl.edu 37 1 44086848 44086848 + Missense_Mutation SNP T T A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 1 44086848 44086848 T A SNP PTPRF ENST00000359947 human ensembl 74_37 +1 known missense c.5600 p.M1867K 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 25 0 0 12 7 36.8421 LRRIQ3 0 genome.wustl.edu 37 1 74507054 74507054 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 1 74507054 74507054 A C SNP LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known missense c.1561 p.L521V 0.000 NULL pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 69 0 0 40 41 50.6173 H6PD 0 genome.wustl.edu 37 1 9322285 9322285 + Silent SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 1 9322285 9322285 A C SNP H6PD ENST00000377403 human ensembl 74_37 +1 known silent c.913 p.R305 0.910 pfam_G6P_DH_C pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB - no_errors H6PD HGNC ENSG00000049239 17 0 0 4 8 66.6667 LPPR4 0 genome.wustl.edu 37 1 99772202 99772202 + Missense_Mutation SNP G G C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 1 99772202 99772202 G C SNP LPPR4 ENST00000370185 human ensembl 74_37 +1 known missense c.1928 p.G643A 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR4 Uniprot_gn ENSG00000117600 35 0 0 16 7 30.4348 CUZD1 0 genome.wustl.edu 37 10 124594423 124594423 + Missense_Mutation SNP T T A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 10 124594423 124594423 T A SNP CUZD1 ENST00000368904 human ensembl 74_37 -1 known missense c.1181 p.N394I 0.242 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors CUZD1 HGNC ENSG00000138161 35 0 0 50 26 34.2105 PTF1A 0 genome.wustl.edu 37 10 23481522 23481522 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 10 23481522 23481522 C T SNP PTF1A ENST00000376504 human ensembl 74_37 +1 known silent c.63 p.F21 0.997 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors PTF1A HGNC ENSG00000168267 58 0 0 46 13 22.0339 GPR158 0 genome.wustl.edu 37 10 25888082 25888082 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 10 25888082 25888082 T G SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.3527 p.F1176C 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 32 0 0 28 17 37.7778 MYO3A 0 genome.wustl.edu 37 10 26432425 26432425 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 10 26432425 26432425 G A SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known missense c.2311 p.D771N 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 20 0 0 30 13 30.2326 ANK3 0 genome.wustl.edu 37 10 61832206 61832206 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 10 61832206 61832206 T G SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.8433 p.K2811N 0.028 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 50 0 0 66 33 33.3333 ANK3 0 genome.wustl.edu 37 10 61834976 61834976 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 10 61834976 61834976 T G SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.5663 p.K1888T 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 59 0 0 57 28 32.9412 JMJD1C 0 genome.wustl.edu 37 10 64974609 64974609 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 10 64974609 64974609 C T SNP JMJD1C ENST00000399262 human ensembl 74_37 -1 known missense c.1318 p.D440N 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 54 0 0 81 30 27.027 ITIH5 0 genome.wustl.edu 37 10 7618705 7618705 + Silent SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 10 7618705 7618705 T G SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known silent c.1689 p.G563 0.001 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 27 0 0 32 25 43.8596 LARP4B 0 genome.wustl.edu 37 10 888940 888940 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 10 888940 888940 G A SNP LARP4B ENST00000316157 human ensembl 74_37 -1 known missense c.578 p.T193M 1.000 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 30 0 0 35 12 25.5319 PGR 0 genome.wustl.edu 37 11 100999459 100999459 + Silent SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 100999459 100999459 A G SNP PGR ENST00000325455 human ensembl 74_37 -1 known silent c.343 p.L115 0.756 pfam_Progest_rcpt,prints_Progest_rcpt pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors PGR HGNC ENSG00000082175 14 0 0 15 3 16.6667 DDI1 0 genome.wustl.edu 37 11 103908222 103908222 + Silent SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 103908222 103908222 A G SNP DDI1 ENST00000302259 human ensembl 74_37 +1 known silent c.672 p.E224 1.000 pfam_Peptidase_aspartic_DDI1-type pfam_Peptidase_aspartic_DDI1-type,pfam_Ubiquitin_dom,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors DDI1 HGNC ENSG00000170967 131 0 0 84 43 33.8583 RDX 0 genome.wustl.edu 37 11 110126036 110126036 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 110126036 110126036 T G SNP RDX ENST00000530749 human ensembl 74_37 -1 known missense c.773 p.K258T 1.000 pirsf_ERM,pfam_FERM_PH-like_C,pfscan_FERM_domain pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors RDX HGNC ENSG00000137710 25 0 0 35 8 18.6047 ZBTB16 0 genome.wustl.edu 37 11 113934258 113934258 + Missense_Mutation SNP C C G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 113934258 113934258 C G SNP ZBTB16 ENST00000335953 human ensembl 74_37 +1 known missense c.236 p.T79S 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB16 HGNC ENSG00000109906 40 0 0 43 8 15.6863 PHLDB1 0 genome.wustl.edu 37 11 118509945 118509945 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 118509945 118509945 G A SNP PHLDB1 ENST00000361417 human ensembl 74_37 +1 known silent c.2712 p.P904 0.994 NULL pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC ENSG00000019144 86 0 0 52 14 21.2121 GRAMD1B 0 genome.wustl.edu 37 11 123477446 123477446 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 123477446 123477446 T G SNP GRAMD1B ENST00000322282 human ensembl 74_37 +1 known missense c.1024 p.F342V 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1B HGNC ENSG00000023171 33 0 0 12 5 29.4118 OR6M1 0 genome.wustl.edu 37 11 123676403 123676403 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 123676403 123676403 T G SNP OR6M1 ENST00000309154 human ensembl 74_37 -1 known missense c.655 p.I219L 0.852 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6M1 HGNC ENSG00000196099 22 0 0 36 13 26.5306 OR10G8 0 genome.wustl.edu 37 11 123900377 123900377 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 123900377 123900377 C T SNP OR10G8 ENST00000431524 human ensembl 74_37 +1 known silent c.48 p.P16 0.035 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G8 HGNC ENSG00000234560 120 0 0 141 39 21.6667 NTM 0 genome.wustl.edu 37 11 132016335 132016335 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 132016335 132016335 C T SNP NTM ENST00000539799 human ensembl 74_37 +1 known silent c.327 p.D109 0.831 pfam_Ig_I-set,pfam_Ig_V-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 NTM HGNC ENSG00000182667 53 0 0 17 29 63.0435 THYN1 0 genome.wustl.edu 37 11 134121176 134121176 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 134121176 134121176 T G SNP THYN1 ENST00000341541 human ensembl 74_37 -1 known missense c.70 p.K24Q 0.484 NULL pfam_EVE_domain,superfamily_PUA-like_domain - no_errors THYN1 HGNC ENSG00000151500 288 0 0 230 67 22.5589 DCDC1 0 genome.wustl.edu 37 11 31086653 31086653 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 31086653 31086653 T G SNP DCDC1 ENST00000597505 human ensembl 74_37 -1 putative missense c.2346 p.Q782H 0.983 superfamily_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Doublecortin_dom,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC1 HGNC ENSG00000170959 27 0 0 37 10 21.2766 OR51F1 0 genome.wustl.edu 37 11 4790367 4790367 + Missense_Mutation SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 4790367 4790367 A G SNP OR51F1 ENST00000380383 human ensembl 74_37 -1 known missense c.802 p.S268P 0.769 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 OR51F1 HGNC ENSG00000188069 40 0 0 57 26 31.3253 OR4A47 0 genome.wustl.edu 37 11 48511002 48511002 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 48511002 48511002 T G SNP OR4A47 ENST00000446524 human ensembl 74_37 +1 known missense c.658 p.L220V 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A47 HGNC ENSG00000237388 58 0 0 81 36 30.7692 OR51S1 0 genome.wustl.edu 37 11 4869842 4869842 + Silent SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 4869842 4869842 T C SNP OR51S1 ENST00000322101 human ensembl 74_37 -1 known silent c.597 p.E199 0.007 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 OR51S1 HGNC ENSG00000176922 83 0 0 64 27 29.6703 OR51G1 0 genome.wustl.edu 37 11 4945136 4945136 + Missense_Mutation SNP T T A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 4945136 4945136 T A SNP OR51G1 ENST00000321961 human ensembl 74_37 -1 known missense c.434 p.K145M 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51G1 HGNC ENSG00000176879 37 0 0 43 17 28.3333 OR51A4 0 genome.wustl.edu 37 11 4967541 4967541 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 4967541 4967541 G A SNP OR51A4 ENST00000380373 human ensembl 74_37 -1 known missense c.790 p.R264C 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51A4 HGNC ENSG00000205497 152 0 0 214 24 10.084 OR4A5 0 genome.wustl.edu 37 11 51412307 51412307 + Nonsense_Mutation SNP A A T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 51412307 51412307 A T SNP OR4A5 ENST00000319760 human ensembl 74_37 -1 known nonsense c.89 p.L30* 0.068 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A5 HGNC ENSG00000221840 37 0 0 37 15 28.8462 OR4P4 0 genome.wustl.edu 37 11 55406423 55406423 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 55406423 55406423 T G SNP OR4P4 ENST00000314612 human ensembl 74_37 +1 known missense c.590 p.V197G 0.218 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 OR4P4 HGNC ENSG00000181927 20 0 0 33 29 46.7742 OR5D14 0 genome.wustl.edu 37 11 55563048 55563048 + Missense_Mutation SNP G G T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 55563048 55563048 G T SNP OR5D14 ENST00000335605 human ensembl 74_37 +1 known missense c.17 p.R6M 0.025 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D14 HGNC ENSG00000186113 64 0 0 89 44 33.0827 OR52H1 0 genome.wustl.edu 37 11 5565929 5565929 + Missense_Mutation SNP A A T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 5565929 5565929 A T SNP OR52H1 ENST00000322653 human ensembl 74_37 -1 known missense c.825 p.N275K 0.891 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 OR52H1 HGNC ENSG00000181616 56 0 0 63 27 30 OR8J3 0 genome.wustl.edu 37 11 55904446 55904446 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 55904446 55904446 A C SNP OR8J3 ENST00000301529 human ensembl 74_37 -1 known missense c.749 p.V250G 0.009 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8J3 HGNC ENSG00000167822 48 0 0 70 24 25.5319 OR8K1 0 genome.wustl.edu 37 11 56113874 56113874 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 56113874 56113874 T G SNP OR8K1 ENST00000279783 human ensembl 74_37 +1 known missense c.360 p.I120M 0.038 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 OR8K1 HGNC ENSG00000150261 145 0 0 181 66 26.7206 P2RX3 0 genome.wustl.edu 37 11 57114108 57114108 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 57114108 57114108 C T SNP P2RX3 ENST00000263314 human ensembl 74_37 +1 known silent c.210 p.Y70 0.997 pfam_P2X_purnocptor,prints_P2X3_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X3_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX3 HGNC ENSG00000109991 29 0 0 30 10 25 BEST1 0 genome.wustl.edu 37 11 61729795 61729795 + Missense_Mutation SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 61729795 61729795 T C SNP BEST1 ENST00000449131 human ensembl 74_37 +1 known missense c.989 p.I330T 0.014 NULL pfam_Bestrophin/UPF0187 - no_errors BEST1 HGNC ENSG00000167995 25 0 0 38 3 7.31707 AHNAK 0 genome.wustl.edu 37 11 62287621 62287621 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 62287621 62287621 G A SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known silent c.14268 p.D4756 0.023 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 169 0 0 189 79 29.4776 CCDC88B 0 genome.wustl.edu 37 11 64109148 64109148 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 64109148 64109148 G A SNP CCDC88B ENST00000356786 human ensembl 74_37 +1 known silent c.609 p.E203 1.000 pfam_Hook-related_fam pfam_Hook-related_fam - no_errors CCDC88B HGNC ENSG00000168071 25 0 0 22 3 12 MAP4K2 0 genome.wustl.edu 37 11 64564487 64564487 + Silent SNP G G C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 64564487 64564487 G C SNP MAP4K2 ENST00000294066 human ensembl 74_37 -1 known silent c.1374 p.S458 0.708 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K2 HGNC ENSG00000168067 53 0 0 40 15 27.2727 NUMA1 0 genome.wustl.edu 37 11 71733400 71733400 + Missense_Mutation SNP A A T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 71733400 71733400 A T SNP NUMA1 ENST00000393695 human ensembl 74_37 -1 known missense c.357 p.F119L 1.000 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 150 0 0 142 42 22.8261 USP35 0 genome.wustl.edu 37 11 77921035 77921035 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 77921035 77921035 G A SNP USP35 ENST00000529308 human ensembl 74_37 +1 known missense c.2134 p.V712M 0.007 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP35 HGNC ENSG00000118369 30 0 0 16 10 38.4615 OR10A3 0 genome.wustl.edu 37 11 7960149 7960149 + Silent SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 7960149 7960149 T G SNP OR10A3 ENST00000360759 human ensembl 74_37 -1 known silent c.919 p.R307 0.015 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A3 HGNC ENSG00000170683 35 0 0 43 13 23.2143 PIDD 0 genome.wustl.edu 37 11 799408 799408 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 799408 799408 G A SNP PIDD ENST00000347755 human ensembl 74_37 -1 known missense c.2632 p.R878C 0.134 superfamily_DEATH-like_dom pfam_Peptidase_S68_pidd,pfam_Death_domain,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5 - no_errors PIDD HGNC ENSG00000177595 93 0 0 41 22 34.9206 GRM5 0 genome.wustl.edu 37 11 88781002 88781002 + Silent SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 88781002 88781002 T C SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known silent c.39 p.K13 1.000 prints_GPCR_3_mtglu_rcpt_5 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 25 0 0 37 8 17.7778 PIWIL4 0 genome.wustl.edu 37 11 94337220 94337220 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 94337220 94337220 C T SNP PIWIL4 ENST00000299001 human ensembl 74_37 +1 known silent c.1636 p.L546 0.959 superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL4 HGNC ENSG00000134627 9 0 0 26 14 35 VPS29 0 genome.wustl.edu 37 12 110939866 110939866 + RNA SNP G G C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 12 110939866 110939866 G C SNP VPS29 ENST00000548259 human ensembl 74_37 -1 known rna NULL NULL 0.508 - - - no_errors VPS29 HGNC ENSG00000111237 27 0 0 44 23 34.3284 SLCO1C1 0 genome.wustl.edu 37 12 20854340 20854340 + Missense_Mutation SNP G G T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 12 20854340 20854340 G T SNP SLCO1C1 ENST00000381552 human ensembl 74_37 +1 known missense c.218 p.R73M 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC ENSG00000139155 62 0 0 12 58 82.8571 SLCO1B1 0 genome.wustl.edu 37 12 21370153 21370153 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 12 21370153 21370153 A C SNP SLCO1B1 ENST00000256958 human ensembl 74_37 +1 known missense c.1598 p.K533T 0.533 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B1 HGNC ENSG00000134538 36 0 0 5 35 87.5 ABCC9 0 genome.wustl.edu 37 12 22047092 22047092 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 12 22047092 22047092 G A SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.1676 p.A559V 0.921 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,prints_Sulphonylurea_rcpt-2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 62 0 0 4 40 90.9091 KRAS 0 genome.wustl.edu 37 12 25398281 25398281 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 12 25398281 25398281 C T SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.38 p.G13D 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 11 0 0 1 11 91.6667 SCAF11 0 genome.wustl.edu 37 12 46355485 46355485 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 12 46355485 46355485 C T SNP SCAF11 ENST00000369367 human ensembl 74_37 -1 known missense c.217 p.E73K 1.000 smart_Znf_RING,pfscan_Znf_RING smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 41 0 0 47 40 45.977 HDAC7 0 genome.wustl.edu 37 12 48196037 48196037 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 12 48196037 48196037 C T SNP HDAC7 ENST00000380610 human ensembl 74_37 -1 known missense c.91 p.G31S 0.998 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC7 HGNC ENSG00000061273 25 0 0 21 2 8.69565 TESPA1 0 genome.wustl.edu 37 12 55360985 55360985 + Missense_Mutation SNP A A T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 12 55360985 55360985 A T SNP TESPA1 ENST00000316577 human ensembl 74_37 -1 known missense c.292 p.L98M 1.000 NULL NULL - no_errors TESPA1 HGNC ENSG00000135426 29 0 0 28 8 22.2222 IKZF4 0 genome.wustl.edu 37 12 56415326 56415326 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 12 56415326 56415326 G A SNP IKZF4 ENST00000262032 human ensembl 74_37 +1 known missense c.49 p.V17I 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF4 HGNC ENSG00000123411 15 0 0 6 8 57.1429 VWF 0 genome.wustl.edu 37 12 6103072 6103072 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 12 6103072 6103072 C T SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.6554 p.R2185Q 0.997 pirsf_VWF,pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 47 0 0 5 37 88.0952 GPR162 0 genome.wustl.edu 37 12 6936089 6936089 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 12 6936089 6936089 G A SNP GPR162 ENST00000311268 human ensembl 74_37 +1 known missense c.1487 p.R496Q 0.469 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR162,prints_GCR_153/162 - no_errors GPR162 HGNC ENSG00000250510 130 1 0.763359 73 4 5.19481 CAPS2 0 genome.wustl.edu 37 12 75698628 75698628 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 12 75698628 75698628 A C SNP CAPS2 ENST00000409445 human ensembl 74_37 -1 known missense c.745 p.L249V 0.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CAPS2 HGNC ENSG00000180881 44 0 0 26 28 51.8519 NAV3 0 genome.wustl.edu 37 12 78443823 78443823 + Silent SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 12 78443823 78443823 T C SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known silent c.2074 p.L692 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 27 0 0 34 19 35.8491 MIR618 0 genome.wustl.edu 37 12 81329555 81329555 + RNA SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 12 81329555 81329555 T C SNP MIR618 ENST00000385287 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR618 HGNC ENSG00000208022 22 0 0 35 13 27.0833 C12orf50 0 genome.wustl.edu 37 12 88383059 88383059 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 12 88383059 88383059 T G SNP C12orf50 ENST00000298699 human ensembl 74_37 -1 known missense c.682 p.K228Q 0.988 NULL NULL - no_errors C12orf50 HGNC ENSG00000165805 9 0 0 29 13 30.9524 ENSG00000243008 0 genome.wustl.edu 37 13 25144710 25144710 + RNA SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 13 25144710 25144710 A G SNP ENSG00000243008 ENST00000453498 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-556N21.1 Clone_based_vega_gene ENSG00000243008 11 0 0 22 8 26.6667 ENSG00000243008 0 genome.wustl.edu 37 13 25144712 25144712 + RNA SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 13 25144712 25144712 A C SNP ENSG00000243008 ENST00000453498 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-556N21.1 Clone_based_vega_gene ENSG00000243008 11 0 0 22 8 26.6667 FRY 0 genome.wustl.edu 37 13 32699009 32699009 + Missense_Mutation SNP C C A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 13 32699009 32699009 C A SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.713 p.A238D 1.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 60 0 0 78 44 36.0656 SMAD9 0 genome.wustl.edu 37 13 37439801 37439801 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 13 37439801 37439801 G A SNP SMAD9 ENST00000379826 human ensembl 74_37 -1 known silent c.876 p.S292 0.995 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD9 HGNC ENSG00000120693 63 0 0 48 18 27.2727 POSTN 0 genome.wustl.edu 37 13 38158997 38158997 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 13 38158997 38158997 C T SNP POSTN ENST00000379747 human ensembl 74_37 -1 known missense c.964 p.E322K 1.000 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 35 0 0 51 19 27.1429 SPERT 0 genome.wustl.edu 37 13 46287490 46287490 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 13 46287490 46287490 C T SNP SPERT ENST00000310521 human ensembl 74_37 +1 known silent c.330 p.A110 0.149 NULL NULL - no_errors SPERT HGNC ENSG00000174015 85 0 0 70 24 25.5319 HTR2A 0 genome.wustl.edu 37 13 47409677 47409677 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 13 47409677 47409677 G A SNP HTR2A ENST00000378688 human ensembl 74_37 -1 known silent c.711 p.I237 0.035 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2A HGNC ENSG00000102468 42 0 0 30 37 55.2239 THSD1 0 genome.wustl.edu 37 13 52952250 52952250 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 13 52952250 52952250 T G SNP THSD1 ENST00000258613 human ensembl 74_37 -1 known missense c.1855 p.S619R 0.996 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC ENSG00000136114 59 0 0 67 19 22.093 OR4N2 0 genome.wustl.edu 37 14 20295670 20295670 + Missense_Mutation SNP A A T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 14 20295670 20295670 A T SNP OR4N2 ENST00000315947 human ensembl 74_37 +1 known missense c.63 p.Q21H 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N2 HGNC ENSG00000176294 376 0 0 525 44 7.73286 RNF31 0 genome.wustl.edu 37 14 24617255 24617255 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 14 24617255 24617255 G A SNP RNF31 ENST00000324103 human ensembl 74_37 +1 known missense c.263 p.S88N 0.993 pfam_PUB_domain pfam_PUB_domain,pfam_Znf_C6HC,superfamily_UBA-like,superfamily_DEATH-like_dom,superfamily_Znf_FYVE_PHD,smart_Znf_RanBP2,smart_Znf_C6HC,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RanBP2 - no_errors RNF31 HGNC ENSG00000092098 67 0 0 7 41 85.4167 PRKD1 0 genome.wustl.edu 37 14 30046521 30046521 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 14 30046521 30046521 T G SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known missense c.2662 p.S888R 0.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 51 0 0 14 51 78.4615 AKAP6 0 genome.wustl.edu 37 14 33291387 33291387 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 14 33291387 33291387 A C SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known missense c.4368 p.E1456D 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 32 0 0 26 5 16.129 LRFN5 0 genome.wustl.edu 37 14 42360793 42360793 + Missense_Mutation SNP G G T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 14 42360793 42360793 G T SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known missense c.1726 p.A576S 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 54 0 0 91 24 20.8696 PTGDR 0 genome.wustl.edu 37 14 52741454 52741454 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 14 52741454 52741454 C T SNP PTGDR ENST00000306051 human ensembl 74_37 +1 known silent c.852 p.R284 0.987 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt,prints_Prostanoid_rcpt - no_errors PTGDR HGNC ENSG00000168229 22 0 0 19 13 40.625 TTLL5 0 genome.wustl.edu 37 14 76238105 76238105 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 14 76238105 76238105 G A SNP TTLL5 ENST00000298832 human ensembl 74_37 +1 known missense c.2044 p.A682T 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL5 HGNC ENSG00000119685 129 0 0 50 34 40.4762 GPATCH2L 0 genome.wustl.edu 37 14 76621146 76621146 + Missense_Mutation SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 14 76621146 76621146 T C SNP GPATCH2L ENST00000261530 human ensembl 74_37 +1 known missense c.440 p.L147P 1.000 NULL NULL - no_errors GPATCH2L HGNC ENSG00000089916 32 0 0 29 22 43.1373 C14orf177 0 genome.wustl.edu 37 14 99182660 99182660 + Silent SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 14 99182660 99182660 T C SNP C14orf177 ENST00000325812 human ensembl 74_37 +1 known silent c.132 p.S44 0.000 NULL NULL - no_errors C14orf177 HGNC ENSG00000176605 24 0 0 12 12 50 OR4N4 0 genome.wustl.edu 37 15 22383400 22383400 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 15 22383400 22383400 G A SNP OR4N4 ENST00000328795 human ensembl 74_37 +1 known missense c.928 p.V310M 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N4 HGNC ENSG00000183706 25 0 0 16 10 38.4615 ZNF770 0 genome.wustl.edu 37 15 35275157 35275157 + Missense_Mutation SNP T T A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 15 35275157 35275157 T A SNP ZNF770 ENST00000356321 human ensembl 74_37 -1 known missense c.479 p.H160L 0.177 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ENSG00000198146 44 0 0 32 24 42.8571 EHD4 0 genome.wustl.edu 37 15 42211597 42211597 + Missense_Mutation SNP C C A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 15 42211597 42211597 C A SNP EHD4 ENST00000220325 human ensembl 74_37 -1 known missense c.735 p.K245N 0.998 superfamily_P-loop_NTPase pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD4 HGNC ENSG00000103966 36 0 0 29 14 32.5581 SEMA6D 0 genome.wustl.edu 37 15 48055225 48055225 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 15 48055225 48055225 T G SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known missense c.671 p.L224R 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 19 0 0 14 10 41.6667 SLC12A1 0 genome.wustl.edu 37 15 48594956 48594956 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 15 48594956 48594956 C T SNP SLC12A1 ENST00000380993 human ensembl 74_37 +1 known silent c.3174 p.P1058 0.943 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A1 HGNC ENSG00000074803 63 0 0 27 22 44.898 GLDN 0 genome.wustl.edu 37 15 51687172 51687172 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 15 51687172 51687172 C T SNP GLDN ENST00000335449 human ensembl 74_37 +1 known silent c.682 p.L228 0.000 NULL pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like - no_errors GLDN HGNC ENSG00000186417 13 0 0 4 8 66.6667 ZNF280D 0 genome.wustl.edu 37 15 56924164 56924164 + Silent SNP G G T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 15 56924164 56924164 G T SNP ZNF280D ENST00000267807 human ensembl 74_37 -1 known silent c.2472 p.I824 0.023 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280D HGNC ENSG00000137871 68 0 0 68 45 39.823 RORA 0 genome.wustl.edu 37 15 60919479 60919479 + Missense_Mutation SNP C C A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 15 60919479 60919479 C A SNP RORA ENST00000261523 human ensembl 74_37 -1 known missense c.95 p.R32I 0.021 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors RORA HGNC ENSG00000069667 54 0 0 35 19 35.1852 CSK 0 genome.wustl.edu 37 15 75091247 75091247 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 15 75091247 75091247 C T SNP CSK ENST00000220003 human ensembl 74_37 +1 known silent c.210 p.G70 0.593 pfscan_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors CSK HGNC ENSG00000103653 48 0 0 28 2 6.66667 ADAMTSL3 0 genome.wustl.edu 37 15 84659886 84659886 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 15 84659886 84659886 A C SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known missense c.3893 p.H1298P 0.000 pfscan_Ig-like_dom pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 169 0 0 90 66 42.3077 MESP2 0 genome.wustl.edu 37 15 90321444 90321444 + Missense_Mutation SNP C C A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 15 90321444 90321444 C A SNP MESP2 ENST00000341735 human ensembl 74_37 +1 known missense c.1073 p.P358Q 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MESP2 HGNC ENSG00000188095 34 0 0 9 10 52.6316 HS3ST2 0 genome.wustl.edu 37 16 22926778 22926778 + Silent SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 16 22926778 22926778 T C SNP HS3ST2 ENST00000261374 human ensembl 74_37 +1 known silent c.999 p.T333 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST2 HGNC ENSG00000122254 178 0 0 115 55 32.3529 PRKCB 0 genome.wustl.edu 37 16 24104114 24104114 + Silent SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 16 24104114 24104114 A C SNP PRKCB ENST00000303531 human ensembl 74_37 +1 known silent c.532 p.R178 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCB HGNC ENSG00000166501 83 0 0 43 53 55.2083 RAB11FIP3 0 genome.wustl.edu 37 16 511421 511421 + Missense_Mutation SNP G G C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 16 511421 511421 G C SNP RAB11FIP3 ENST00000457159 human ensembl 74_37 +1 known missense c.732 p.K244N 0.947 NULL pfam_Rab-bd_FIP-RBD,pfscan_EF_hand_dom - no_errors RAB11FIP3 HGNC ENSG00000090565 130 0 0 50 4 7.40741 FAM86A 0 genome.wustl.edu 37 16 5140541 5140541 + Missense_Mutation SNP G G C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 16 5140541 5140541 G C SNP FAM86A ENST00000427587 human ensembl 74_37 -1 known missense c.368 p.S123C 0.046 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors FAM86A HGNC ENSG00000118894 86 0 0 32 3 8.57143 TMEM231 0 genome.wustl.edu 37 16 75575315 75575315 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 16 75575315 75575315 C T SNP TMEM231 ENST00000568377 human ensembl 74_37 -1 known missense c.790 p.V264M 1.000 pfam_TMEM231 pfam_TMEM231 - no_errors TMEM231 HGNC ENSG00000205084 32 0 0 16 15 48.3871 ADAMTS18 0 genome.wustl.edu 37 16 77334269 77334269 + Silent SNP A A T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 16 77334269 77334269 A T SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known silent c.2565 p.A855 0.986 pfam_ADAM_spacer1 pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,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 ADAMTS18 HGNC ENSG00000140873 51 0 0 55 20 26.6667 MYH4 0 genome.wustl.edu 37 17 10346803 10346803 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 17 10346803 10346803 G A SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known silent c.5709 p.L1903 0.995 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 66 0 0 49 34 40.9639 PMP22 0 genome.wustl.edu 37 17 15134380 15134380 + Missense_Mutation SNP C C A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 17 15134380 15134380 C A SNP PMP22 ENST00000312280 human ensembl 74_37 -1 known missense c.337 p.A113S 0.898 pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20 pfam_PMP22/EMP/MP20/Claudin,prints_PMP22,prints_PMP22_EMP_MP20 - no_errors PMP22 HGNC ENSG00000109099 32 0 0 29 3 9.375 ZNF286A 0 genome.wustl.edu 37 17 15619704 15619704 + Missense_Mutation SNP A A T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 17 15619704 15619704 A T SNP ZNF286A ENST00000413242 human ensembl 74_37 +1 known missense c.666 p.K222N 0.989 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 ZNF286A HGNC ENSG00000255104 21 0 0 20 11 35.4839 PIGL 0 genome.wustl.edu 37 17 16221220 16221220 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 17 16221220 16221220 A C SNP PIGL ENST00000225609 human ensembl 74_37 +1 known missense c.658 p.K220Q 1.000 superfamily_LmbE-like_dom pfam_GlcNAc_PI_deacetylase-related,superfamily_LmbE-like_dom - no_errors PIGL HGNC ENSG00000108474 73 0 0 6 36 85.7143 WDR81 0 genome.wustl.edu 37 17 1637458 1637458 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 17 1637458 1637458 G A SNP WDR81 ENST00000409644 human ensembl 74_37 +1 known silent c.5127 p.P1709 0.001 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 35 0 0 23 4 14.8148 SPECC1 0 genome.wustl.edu 37 17 19999988 19999988 + Nonsense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 17 19999988 19999988 G A SNP SPECC1 ENST00000261503 human ensembl 74_37 +1 known nonsense c.24 p.W8* 0.997 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 142 0 0 47 32 40.5063 KCNJ12 0 genome.wustl.edu 37 17 21319358 21319358 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 17 21319358 21319358 C T SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known missense c.704 p.P235L 0.999 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 32 0 0 22 3 12 FAM27L 0 genome.wustl.edu 37 17 21826233 21826233 + RNA SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 17 21826233 21826233 G A SNP FAM27L ENST00000426869 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors FAM27L HGNC ENSG00000178130 44 0 0 20 18 47.3684 VTN 0 genome.wustl.edu 37 17 26695926 26695926 + Missense_Mutation SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 17 26695926 26695926 A G SNP VTN ENST00000226218 human ensembl 74_37 -1 known missense c.793 p.Y265H 1.000 pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pfam_Hemopexin-like_repeat,pfam_Somatomedin_B_dom,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors VTN HGNC ENSG00000109072 94 0 0 61 34 35.7895 TMEM132E 0 genome.wustl.edu 37 17 32953468 32953468 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 17 32953468 32953468 C T SNP TMEM132E ENST00000321639 human ensembl 74_37 +1 known silent c.390 p.I130 1.000 NULL NULL - no_errors TMEM132E HGNC ENSG00000181291 19 0 0 16 8 33.3333 OR1E1 0 genome.wustl.edu 37 17 3301149 3301149 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 17 3301149 3301149 T G SNP OR1E1 ENST00000322608 human ensembl 74_37 -1 known missense c.556 p.K186Q 0.068 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 OR1E1 HGNC ENSG00000180016 27 0 0 22 24 52.1739 ENSG00000224113 0 genome.wustl.edu 37 17 33332531 33332531 + RNA SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 17 33332531 33332531 T C SNP ENSG00000224113 ENST00000415412 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors RP5-837J1.2 Clone_based_vega_gene ENSG00000224113 36 0 0 30 16 34.7826 AP2B1 0 genome.wustl.edu 37 17 33951554 33951554 + Missense_Mutation SNP A A T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 17 33951554 33951554 A T SNP AP2B1 ENST00000312678 human ensembl 74_37 +1 known missense c.664 p.I222F 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP2B1 HGNC ENSG00000006125 57 0 0 54 31 36.4706 TRPV1 0 genome.wustl.edu 37 17 3495503 3495503 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 17 3495503 3495503 G A SNP TRPV1 ENST00000399756 human ensembl 74_37 -1 known missense c.142 p.R48W 0.712 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV1 HGNC ENSG00000196689 20 0 0 2 6 75 GSG2 0 genome.wustl.edu 37 17 3628131 3628131 + Missense_Mutation SNP A A T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 17 3628131 3628131 A T SNP GSG2 ENST00000325418 human ensembl 74_37 +1 known missense c.902 p.Q301L 0.000 NULL pfam_DUF3635,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors GSG2 HGNC ENSG00000177602 57 0 0 46 3 6.12245 KCNH4 0 genome.wustl.edu 37 17 40315668 40315668 + Silent SNP G G C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 17 40315668 40315668 G C SNP KCNH4 ENST00000264661 human ensembl 74_37 -1 known silent c.2433 p.L811 1.000 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC ENSG00000089558 20 0 0 9 7 43.75 UBE2Z 0 genome.wustl.edu 37 17 46998578 46998578 + Missense_Mutation SNP C C G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 17 46998578 46998578 C G SNP UBE2Z ENST00000360943 human ensembl 74_37 +1 known missense c.747 p.I249M 1.000 superfamily_UBQ-conjugating_enzyme/RWD pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2Z HGNC ENSG00000159202 26 0 0 17 4 19.0476 CACNA1G 0 genome.wustl.edu 37 17 48646631 48646631 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 17 48646631 48646631 C T SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known missense c.460 p.R154W 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 67 0 0 55 16 22.5352 TLK2 0 genome.wustl.edu 37 17 60637416 60637416 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 17 60637416 60637416 A C SNP TLK2 ENST00000326270 human ensembl 74_37 +1 known missense c.760 p.K254Q 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TLK2 HGNC ENSG00000146872 44 0 0 40 15 27.2727 C17orf74 0 genome.wustl.edu 37 17 7330106 7330106 + Nonsense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 17 7330106 7330106 C T SNP C17orf74 ENST00000333870 human ensembl 74_37 +1 known nonsense c.796 p.R266* 0.085 NULL NULL - no_errors C17orf74 HGNC ENSG00000184560 33 0 0 23 9 28.125 EVPL 0 genome.wustl.edu 37 17 74006521 74006521 + Missense_Mutation SNP T T A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 17 74006521 74006521 T A SNP EVPL ENST00000301607 human ensembl 74_37 -1 known missense c.2765 p.E922V 1.000 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 36 0 0 19 8 29.6296 MGAT5B 0 genome.wustl.edu 37 17 74942478 74942478 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 17 74942478 74942478 C T SNP MGAT5B ENST00000428789 human ensembl 74_37 +1 known silent c.1896 p.Y632 0.986 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MGAT5B HGNC ENSG00000167889 39 0 0 16 3 15.7895 RCVRN 0 genome.wustl.edu 37 17 9808171 9808171 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 17 9808171 9808171 G A SNP RCVRN ENST00000226193 human ensembl 74_37 -1 known silent c.327 p.Y109 0.998 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors RCVRN HGNC ENSG00000109047 120 0 0 49 25 33.7838 CXADRP3 0 genome.wustl.edu 37 18 14478666 14478666 + RNA SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 18 14478666 14478666 T G SNP CXADRP3 ENST00000581457 human ensembl 74_37 -1 known rna NULL NULL 0.488 - - - no_errors CXADRP3 HGNC ENSG00000265766 20 0 0 32 15 31.9149 LAMA3 0 genome.wustl.edu 37 18 21357584 21357584 + Splice_Site SNP G G T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 18 21357584 21357584 G T SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known splice_site c.1468+1 e11+1 1.000 - - - no_errors LAMA3 HGNC ENSG00000053747 43 0 0 59 9 13.2353 RIT2 0 genome.wustl.edu 37 18 40323528 40323528 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 18 40323528 40323528 A C SNP RIT2 ENST00000326695 human ensembl 74_37 -1 known missense c.584 p.L195R 1.000 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RIT2 HGNC ENSG00000152214 68 0 0 82 24 22.6415 PIAS2 0 genome.wustl.edu 37 18 44470842 44470842 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 18 44470842 44470842 C T SNP PIAS2 ENST00000585916 human ensembl 74_37 -1 known missense c.200 p.R67Q 0.996 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS2 HGNC ENSG00000078043 70 0 0 72 32 30.7692 MYO5B 0 genome.wustl.edu 37 18 47363930 47363930 + Silent SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 18 47363930 47363930 A G SNP MYO5B ENST00000285039 human ensembl 74_37 -1 known silent c.5095 p.L1699 1.000 pfam_Dil_domain,pfscan_Dilute pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 30 0 0 53 5 8.62069 CCDC102B 0 genome.wustl.edu 37 18 66678349 66678349 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 18 66678349 66678349 T G SNP CCDC102B ENST00000584156 human ensembl 74_37 +1 known missense c.1442 p.L481R 0.001 NULL NULL - no_errors CCDC102B HGNC ENSG00000150636 40 0 0 15 31 67.3913 LAMA1 0 genome.wustl.edu 37 18 6943298 6943298 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 18 6943298 6943298 T G SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.8948 p.N2983T 0.903 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 59 0 0 48 66 57.8947 LAMA1 0 genome.wustl.edu 37 18 7034595 7034595 + Missense_Mutation SNP A A T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 18 7034595 7034595 A T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.1934 p.F645Y 1.000 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 61 0 0 39 54 58.0645 COL5A3 0 genome.wustl.edu 37 19 10071440 10071440 + Nonsense_Mutation SNP C C A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 19 10071440 10071440 C A SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known nonsense c.4978 p.E1660* 0.449 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 70 0 0 42 27 39.1304 ELAVL3 0 genome.wustl.edu 37 19 11577597 11577597 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 19 11577597 11577597 C T SNP ELAVL3 ENST00000359227 human ensembl 74_37 -1 known missense c.55 p.G19S 1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL3 HGNC ENSG00000196361 25 0 0 13 5 27.7778 CILP2 0 genome.wustl.edu 37 19 19655402 19655402 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 19 19655402 19655402 C T SNP CILP2 ENST00000291495 human ensembl 74_37 +1 known missense c.2048 p.S683L 1.000 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP2 HGNC ENSG00000160161 18 0 0 10 5 33.3333 ZNF626 0 genome.wustl.edu 37 19 20808024 20808024 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 19 20808024 20808024 T G SNP ZNF626 ENST00000601440 human ensembl 74_37 -1 known missense c.659 p.K220T 0.714 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 ZNF626 HGNC ENSG00000188171 48 0 0 29 18 38.2979 ZNF85 0 genome.wustl.edu 37 19 21117821 21117821 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 19 21117821 21117821 A C SNP ZNF85 ENST00000328178 human ensembl 74_37 +1 known missense c.197 p.K66T 0.050 pfscan_Krueppel-associated_box 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 ZNF85 HGNC ENSG00000105750 40 0 0 15 8 34.7826 ZNF99 0 genome.wustl.edu 37 19 22941160 22941160 + Silent SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 19 22941160 22941160 A G SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known silent c.1278 p.A426 0.390 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF99 HGNC ENSG00000213973 50 0 0 23 14 37.8378 ZNF724P 0 genome.wustl.edu 37 19 23405457 23405457 + Silent SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 19 23405457 23405457 T G SNP ZNF724P ENST00000418100 human ensembl 74_37 -1 novel silent c.1590 p.G530 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF724P HGNC ENSG00000196081 51 0 0 41 3 6.81818 LRFN3 0 genome.wustl.edu 37 19 36430970 36430970 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 19 36430970 36430970 C T SNP LRFN3 ENST00000246529 human ensembl 74_37 +1 known missense c.643 p.R215C 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN3 HGNC ENSG00000126243 248 0 0 364 46 11.2195 WDR62 0 genome.wustl.edu 37 19 36583682 36583682 + Missense_Mutation SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 19 36583682 36583682 A G SNP WDR62 ENST00000401500 human ensembl 74_37 +1 known missense c.2302 p.T768A 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR62 HGNC ENSG00000075702 131 0 0 185 26 12.3223 ZNF529 0 genome.wustl.edu 37 19 37037814 37037814 + Missense_Mutation SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 19 37037814 37037814 A G SNP ZNF529 ENST00000591340 human ensembl 74_37 -1 known missense c.1646 p.L549P 0.057 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 ZNF529 HGNC ENSG00000186020 56 0 0 139 22 13.6646 ZNF382 0 genome.wustl.edu 37 19 37117657 37117657 + Silent SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 19 37117657 37117657 T G SNP ZNF382 ENST00000292928 human ensembl 74_37 +1 known silent c.858 p.P286 1.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF382 HGNC ENSG00000161298 109 0 0 297 40 11.8694 RYR1 0 genome.wustl.edu 37 19 38966081 38966081 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 19 38966081 38966081 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known silent c.4284 p.N1428 1.000 pfscan_B30.2/SPRY 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 25 0 0 64 5 7.24638 PAF1 0 genome.wustl.edu 37 19 39876874 39876874 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 19 39876874 39876874 C T SNP PAF1 ENST00000221265 human ensembl 74_37 -1 known silent c.1353 p.E451 1.000 NULL pfam_RNA_pol_II-assoc_Paf1 - no_errors PAF1 HGNC ENSG00000006712 107 0 0 240 53 18.0887 TIMM50 0 genome.wustl.edu 37 19 39980387 39980387 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 19 39980387 39980387 C T SNP TIMM50 ENST00000314349 human ensembl 74_37 +1 known missense c.1298 p.S433F 1.000 NULL pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF - no_errors TIMM50 HGNC ENSG00000105197 14 0 0 21 14 40 FCGBP 0 genome.wustl.edu 37 19 40392045 40392045 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 19 40392045 40392045 C T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.8341 p.V2781M 0.301 pfam_TIL_dom,superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 42 0 0 95 12 11.215 FCGBP 0 genome.wustl.edu 37 19 40433051 40433051 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 19 40433051 40433051 C T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known silent c.1218 p.T406 0.010 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 38 0 0 76 10 11.6279 GRIK5 0 genome.wustl.edu 37 19 42509893 42509893 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 19 42509893 42509893 C T SNP GRIK5 ENST00000301218 human ensembl 74_37 -1 known missense c.2245 p.G749S 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC ENSG00000105737 23 0 0 14 4 22.2222 BCAM 0 genome.wustl.edu 37 19 45321843 45321843 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 19 45321843 45321843 C T SNP BCAM ENST00000270233 human ensembl 74_37 +1 known silent c.1143 p.V381 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 32 0 0 24 15 38.4615 TEAD2 0 genome.wustl.edu 37 19 49845738 49845738 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 19 49845738 49845738 C T SNP TEAD2 ENST00000311227 human ensembl 74_37 -1 known missense c.1187 p.R396Q 1.000 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 62 0 0 49 21 30 ZNF577 0 genome.wustl.edu 37 19 52376330 52376330 + Silent SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 19 52376330 52376330 T G SNP ZNF577 ENST00000301399 human ensembl 74_37 -1 known silent c.913 p.R305 0.922 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 ZNF577 HGNC ENSG00000161551 74 0 0 44 50 53.1915 VN1R4 0 genome.wustl.edu 37 19 53770759 53770759 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 19 53770759 53770759 A C SNP VN1R4 ENST00000311170 human ensembl 74_37 -1 known missense c.160 p.F54V 0.281 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R4 HGNC ENSG00000228567 37 0 0 48 7 12.7273 ENSG00000227407 0 genome.wustl.edu 37 19 54942266 54942266 + RNA SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 19 54942266 54942266 T G SNP ENSG00000227407 ENST00000457113 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors AC008746.3 Clone_based_vega_gene ENSG00000227407 78 0 0 43 9 17.3077 ZNF835 0 genome.wustl.edu 37 19 57175393 57175393 + Missense_Mutation SNP A A T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 19 57175393 57175393 A T SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known missense c.1174 p.C392S 0.958 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 34 0 0 21 23 52.2727 ZNF814 0 genome.wustl.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 19 58385546 58385546 G T SNP ZNF814 ENST00000435989 human ensembl 74_37 -1 known missense c.1212 p.D404E 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ENSG00000204514 12 0 0 29 5 14.7059 CERS4 0 genome.wustl.edu 37 19 8326872 8326872 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 19 8326872 8326872 C T SNP CERS4 ENST00000251363 human ensembl 74_37 +1 known missense c.1064 p.A355V 0.000 pirsf_Longevity_assurance_LAG1_LAC1 pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS4 HGNC ENSG00000090661 39 0 0 12 10 45.4545 OR7E24 0 genome.wustl.edu 37 19 9362443 9362443 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 19 9362443 9362443 C T SNP OR7E24 ENST00000456448 human ensembl 74_37 +1 known missense c.724 p.P242S 0.001 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 OR7E24 HGNC ENSG00000237521 9 0 0 12 4 25 AFF3 0 genome.wustl.edu 37 2 100368730 100368730 + Nonsense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 2 100368730 100368730 G A SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known nonsense c.1030 p.Q344* 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 49 0 0 14 13 48.1481 KLF11 0 genome.wustl.edu 37 2 10188508 10188508 + Silent SNP C C G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 2 10188508 10188508 C G SNP KLF11 ENST00000305883 human ensembl 74_37 +1 known silent c.1044 p.L348 0.119 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF11 HGNC ENSG00000172059 74 0 0 74 4 5.12821 RGPD4 0 genome.wustl.edu 37 2 108488148 108488148 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 2 108488148 108488148 G A SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known missense c.3688 p.G1230S 0.009 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 134 0 0 38 167 81.4634 RANBP2 0 genome.wustl.edu 37 2 109347834 109347834 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 2 109347834 109347834 G A SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known silent c.309 p.L103 1.000 pfscan_TPR-contain_dom pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 94 0 0 63 54 46.1538 RANBP2 0 genome.wustl.edu 37 2 109356991 109356991 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 2 109356991 109356991 G A SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.829 p.E277K 1.000 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 245 0 0 42 235 84.8375 POTEE 0 genome.wustl.edu 37 2 131985873 131985873 + Missense_Mutation SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 2 131985873 131985873 T C SNP POTEE ENST00000356920 human ensembl 74_37 +1 known missense c.974 p.L325P 0.167 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEE HGNC ENSG00000188219 30 0 0 49 10 16.9492 CCDC74A 0 genome.wustl.edu 37 2 132290251 132290251 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 2 132290251 132290251 C T SNP CCDC74A ENST00000295171 human ensembl 74_37 +1 known missense c.773 p.P258L 0.029 NULL NULL - no_errors CCDC74A HGNC ENSG00000163040 100 0 0 74 4 5.12821 MCM6 0 genome.wustl.edu 37 2 136626249 136626249 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 2 136626249 136626249 G A SNP MCM6 ENST00000264156 human ensembl 74_37 -1 known missense c.547 p.P183S 1.000 superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase,prints_MCM6 pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM6,prints_MCM_DNA-dep_ATPase - no_errors MCM6 HGNC ENSG00000076003 72 0 0 53 24 31.1688 THSD7B 0 genome.wustl.edu 37 2 138320844 138320844 + Silent SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 2 138320844 138320844 A G SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known silent c.3201 p.V1067 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 19 0 0 15 7 31.8182 LRP1B 0 genome.wustl.edu 37 2 141598520 141598520 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 2 141598520 141598520 T G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.5081 p.K1694T 1.000 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 42 0 0 30 35 53.8462 SCN2A 0 genome.wustl.edu 37 2 166210751 166210751 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 2 166210751 166210751 A C SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.2969 p.N990T 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 167 0 0 134 75 35.8852 CSRNP3 0 genome.wustl.edu 37 2 166535567 166535567 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 2 166535567 166535567 C T SNP CSRNP3 ENST00000314499 human ensembl 74_37 +1 known silent c.1062 p.S354 0.746 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP3 HGNC ENSG00000178662 91 0 0 34 26 43.3333 XIRP2 0 genome.wustl.edu 37 2 168115844 168115844 + Silent SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 2 168115844 168115844 A C SNP XIRP2 ENST00000420519 human ensembl 74_37 +1 known silent c.2887 p.R963 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors XIRP2 HGNC ENSG00000163092 38 0 0 26 11 29.7297 TTN 0 genome.wustl.edu 37 2 179431873 179431873 + Missense_Mutation SNP G G C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 2 179431873 179431873 G C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.71282 p.T23761S 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 66 0 0 51 41 44.5652 TTN 0 genome.wustl.edu 37 2 179498022 179498022 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 2 179498022 179498022 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.35274 p.Y11758 0.997 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub 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 83 0 0 56 44 44 TTN 0 genome.wustl.edu 37 2 179544122 179544122 + Missense_Mutation SNP G G T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 2 179544122 179544122 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.29954 p.P9985Q 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-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 41 0 0 35 15 30 TTN 0 genome.wustl.edu 37 2 179560121 179560121 + Missense_Mutation SNP T T A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 2 179560121 179560121 T A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.27492 p.K9164N 0.991 superfamily_Calpain_domain_III,superfamily_RNaseH-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 71 0 0 38 22 36.6667 TTN 0 genome.wustl.edu 37 2 179593353 179593353 + Missense_Mutation SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 2 179593353 179593353 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.15568 p.S5190G 1.000 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 19 0 0 14 15 51.7241 KCTD18 0 genome.wustl.edu 37 2 201363767 201363767 + Missense_Mutation SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 2 201363767 201363767 T C SNP KCTD18 ENST00000359878 human ensembl 74_37 -1 known missense c.413 p.N138S 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD18 HGNC ENSG00000155729 36 0 0 22 38 63.3333 INO80D 0 genome.wustl.edu 37 2 206927685 206927685 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 2 206927685 206927685 G A SNP INO80D ENST00000403263 human ensembl 74_37 -1 known missense c.56 p.S19L 1.000 NULL NULL - no_errors INO80D HGNC ENSG00000114933 21 0 0 11 5 31.25 MAP2 0 genome.wustl.edu 37 2 210574735 210574735 + Silent SNP T T A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 2 210574735 210574735 T A SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known silent c.4830 p.S1610 1.000 NULL pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 76 0 0 41 33 44.5946 CPS1 0 genome.wustl.edu 37 2 211465397 211465397 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 2 211465397 211465397 G A SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known silent c.1686 p.E562 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 103 0 0 58 27 31.7647 UGT1A4 0 genome.wustl.edu 37 2 234681146 234681146 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 2 234681146 234681146 C T SNP UGT1A4 ENST00000373409 human ensembl 74_37 +1 known missense c.1546 p.R516W 0.109 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A4 HGNC ENSG00000244474 33 0 0 23 20 46.5116 TTC27 0 genome.wustl.edu 37 2 33036126 33036126 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 2 33036126 33036126 G A SNP TTC27 ENST00000317907 human ensembl 74_37 +1 known silent c.2034 p.G678 0.665 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC27 HGNC ENSG00000018699 67 0 0 37 21 36.2069 SLC8A1 0 genome.wustl.edu 37 2 40657171 40657171 + Missense_Mutation SNP C C A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 2 40657171 40657171 C A SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known missense c.250 p.A84S 1.000 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 52 0 0 66 40 37.7358 REG3G 0 genome.wustl.edu 37 2 79255359 79255359 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 2 79255359 79255359 A C SNP REG3G ENST00000272324 human ensembl 74_37 +1 known missense c.485 p.N162T 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors REG3G HGNC ENSG00000143954 51 0 0 25 13 34.2105 LYG2 0 genome.wustl.edu 37 2 99860569 99860569 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 2 99860569 99860569 G A SNP LYG2 ENST00000333017 human ensembl 74_37 -1 known missense c.413 p.A138V 0.997 pfam_TGlycosylase-like_SLT,superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23 pfam_TGlycosylase-like_SLT,superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23 - no_errors LYG2 HGNC ENSG00000185674 45 0 0 24 24 50 PAX1 0 genome.wustl.edu 37 20 21687617 21687617 + Silent SNP G G C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 20 21687617 21687617 G C SNP PAX1 ENST00000398485 human ensembl 74_37 +1 known silent c.828 p.T276 0.136 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 41 0 0 64 4 5.88235 PYGB 0 genome.wustl.edu 37 20 25276278 25276278 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 20 25276278 25276278 G A SNP PYGB ENST00000216962 human ensembl 74_37 +1 known missense c.2351 p.C784Y 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC ENSG00000100994 69 0 0 107 19 15.0794 FAM83C 0 genome.wustl.edu 37 20 33874645 33874645 + Missense_Mutation SNP C C A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 20 33874645 33874645 C A SNP FAM83C ENST00000374408 human ensembl 74_37 -1 known missense c.1937 p.G646V 0.563 NULL pfam_DUF1669 - no_errors FAM83C HGNC ENSG00000125998 37 0 0 72 15 17.2414 CHD6 0 genome.wustl.edu 37 20 40049347 40049347 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 20 40049347 40049347 G A SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known silent c.5928 p.A1976 0.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,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 CHD6 HGNC ENSG00000124177 114 0 0 298 38 11.3095 CHD6 0 genome.wustl.edu 37 20 40049356 40049356 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 20 40049356 40049356 A C SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.5919 p.N1973K 0.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,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 CHD6 HGNC ENSG00000124177 116 0 0 314 48 13.2597 MMP9 0 genome.wustl.edu 37 20 44639165 44639165 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 20 44639165 44639165 G A SNP MMP9 ENST00000372330 human ensembl 74_37 +1 known missense c.415 p.D139N 1.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP9 HGNC ENSG00000100985 48 0 0 101 11 9.82143 PROKR2 0 genome.wustl.edu 37 20 5282999 5282999 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 20 5282999 5282999 A C SNP PROKR2 ENST00000217270 human ensembl 74_37 -1 known missense c.842 p.L281R 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR2 HGNC ENSG00000101292 34 0 0 80 23 22.3301 PTK6 0 genome.wustl.edu 37 20 62166342 62166342 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 20 62166342 62166342 C T SNP PTK6 ENST00000217185 human ensembl 74_37 -1 known missense c.301 p.A101T 0.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors PTK6 HGNC ENSG00000101213 21 0 0 28 3 9.67742 TPTE 0 genome.wustl.edu 37 21 10908834 10908834 + Missense_Mutation SNP T T A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 21 10908834 10908834 T A SNP TPTE ENST00000361285 human ensembl 74_37 -1 known missense c.1511 p.E504V 0.487 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 22 0 0 33 18 35.2941 TPTE 0 genome.wustl.edu 37 21 10934995 10934995 + Silent SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 21 10934995 10934995 T C SNP TPTE ENST00000361285 human ensembl 74_37 -1 known silent c.798 p.E266 1.000 pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 71 0 0 123 13 9.55882 TPTE 0 genome.wustl.edu 37 21 10971302 10971302 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 21 10971302 10971302 G A SNP TPTE ENST00000361285 human ensembl 74_37 -1 known missense c.55 p.P19S 0.000 NULL pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 46 0 0 34 7 17.0732 BAGE2 0 genome.wustl.edu 37 21 11058248 11058248 + RNA SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 21 11058248 11058248 G A SNP BAGE2 ENST00000470054 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors BAGE2 HGNC ENSG00000187172 91 0 0 123 7 5.38462 TRPM2 0 genome.wustl.edu 37 21 45820246 45820246 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 21 45820246 45820246 C T SNP TRPM2 ENST00000300482 human ensembl 74_37 +1 known silent c.2313 p.I771 1.000 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 33 0 0 13 7 35 PCBP3 0 genome.wustl.edu 37 21 47321018 47321018 + Missense_Mutation SNP G G C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 21 47321018 47321018 G C SNP PCBP3 ENST00000400314 human ensembl 74_37 +1 known missense c.330 p.K110N 1.000 smart_KH_dom pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP3 HGNC ENSG00000183570 50 0 0 32 14 30.4348 PRAME 0 genome.wustl.edu 37 22 22891014 22891014 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 22 22891014 22891014 C T SNP PRAME ENST00000398741 human ensembl 74_37 -1 known silent c.1005 p.S335 0.000 NULL NULL - no_errors PRAME HGNC ENSG00000185686 145 0 0 112 33 22.7586 ZNF70 0 genome.wustl.edu 37 22 24087318 24087318 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 22 24087318 24087318 G A SNP ZNF70 ENST00000341976 human ensembl 74_37 -1 known missense c.10 p.P4S 0.036 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF70 HGNC ENSG00000187792 76 0 0 94 9 8.73786 FAM211B 0 genome.wustl.edu 37 22 24985869 24985869 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 22 24985869 24985869 C T SNP FAM211B ENST00000318753 human ensembl 74_37 -1 known missense c.226 p.V76M 0.995 NULL NULL - no_errors FAM211B HGNC ENSG00000178026 15 0 0 10 3 23.0769 LNP1 0 genome.wustl.edu 37 3 100170656 100170656 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 3 100170656 100170656 G A SNP LNP1 ENST00000383693 human ensembl 74_37 +1 known missense c.250 p.D84N 0.000 NULL NULL - no_errors LNP1 HGNC ENSG00000206535 58 0 0 36 45 55.5556 CD200R1L 0 genome.wustl.edu 37 3 112548191 112548191 + Missense_Mutation SNP C C A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 3 112548191 112548191 C A SNP CD200R1L ENST00000398214 human ensembl 74_37 -1 known missense c.87 p.Q29H 0.004 NULL pfam_CD80_C2-set,pfscan_Ig-like_dom - no_errors CD200R1L HGNC ENSG00000206531 49 0 0 36 23 38.9831 CASR 0 genome.wustl.edu 37 3 121981057 121981057 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 3 121981057 121981057 G A SNP CASR ENST00000498619 human ensembl 74_37 +1 known missense c.1175 p.R392Q 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 57 0 0 22 32 59.2593 P2RY13 0 genome.wustl.edu 37 3 151046346 151046346 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 3 151046346 151046346 G A SNP P2RY13 ENST00000325602 human ensembl 74_37 -1 known silent c.498 p.F166 0.003 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_P2Y13_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_P2Y13_rcpt,prints_GPCR_Rhodpsn,prints_P2Y14_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors P2RY13 HGNC ENSG00000181631 46 0 0 28 39 58.209 GHSR 0 genome.wustl.edu 37 3 172165990 172165990 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 3 172165990 172165990 G A SNP GHSR ENST00000241256 human ensembl 74_37 -1 known missense c.214 p.R72C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS-R,prints_GPCR_Rhodpsn - no_errors GHSR HGNC ENSG00000121853 39 0 0 21 21 50 NLGN1 0 genome.wustl.edu 37 3 173997382 173997382 + Missense_Mutation SNP A A T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 3 173997382 173997382 A T SNP NLGN1 ENST00000401917 human ensembl 74_37 +1 known missense c.1711 p.N571Y 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 55 0 0 37 19 33.9286 NAALADL2 0 genome.wustl.edu 37 3 174814991 174814991 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 3 174814991 174814991 C T SNP NAALADL2 ENST00000454872 human ensembl 74_37 +1 known missense c.455 p.S152L 0.899 NULL superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC ENSG00000177694 84 0 0 69 45 39.4737 IL1RAP 0 genome.wustl.edu 37 3 190366294 190366294 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 3 190366294 190366294 G A SNP IL1RAP ENST00000072516 human ensembl 74_37 +1 known missense c.1513 p.A505T 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ - no_errors IL1RAP HGNC ENSG00000196083 86 0 0 83 25 23.1481 ARPP21 0 genome.wustl.edu 37 3 35835432 35835432 + Silent SNP T T A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 3 35835432 35835432 T A SNP ARPP21 ENST00000417925 human ensembl 74_37 +1 known silent c.2424 p.G808 0.992 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 20 0 0 13 16 55.1724 NISCH 0 genome.wustl.edu 37 3 52521668 52521668 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 3 52521668 52521668 C T SNP NISCH ENST00000345716 human ensembl 74_37 +1 known silent c.2160 p.G720 1.000 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC ENSG00000010322 37 0 0 20 33 62.2642 GRM7 0 genome.wustl.edu 37 3 6903438 6903438 + Silent SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 3 6903438 6903438 T C SNP GRM7 ENST00000402647 human ensembl 74_37 +1 known silent c.363 p.T121 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 38 0 0 36 14 28 EPHA3 0 genome.wustl.edu 37 3 89468410 89468410 + Silent SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 3 89468410 89468410 T C SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known silent c.1944 p.I648 0.998 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA3 HGNC ENSG00000044524 65 0 0 27 44 61.9718 MTTP 0 genome.wustl.edu 37 4 100528022 100528022 + Missense_Mutation SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 4 100528022 100528022 A G SNP MTTP ENST00000265517 human ensembl 74_37 +1 known missense c.1462 p.S488G 0.114 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC ENSG00000138823 27 0 0 24 15 38.4615 H2AFZ 0 genome.wustl.edu 37 4 100870839 100870839 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 4 100870839 100870839 G A SNP H2AFZ ENST00000296417 human ensembl 74_37 -1 known missense c.62 p.S21L 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors H2AFZ HGNC ENSG00000164032 111 0 0 50 28 35.8974 ENSG00000251577 0 genome.wustl.edu 37 4 104512559 104512559 + RNA SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 4 104512559 104512559 T G SNP ENSG00000251577 ENST00000502936 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-297P16.3 Clone_based_vega_gene ENSG00000251577 8 0 0 13 15 53.5714 NDST3 0 genome.wustl.edu 37 4 119158338 119158338 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 4 119158338 119158338 T G SNP NDST3 ENST00000296499 human ensembl 74_37 +1 known missense c.2081 p.L694R 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST3 HGNC ENSG00000164100 53 0 0 19 14 42.4242 PDGFC 0 genome.wustl.edu 37 4 157732094 157732094 + Silent SNP T T A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 4 157732094 157732094 T A SNP PDGFC ENST00000502773 human ensembl 74_37 -1 known silent c.390 p.P130 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_PDGF/VEGF_dom,superfamily_CUB_dom,smart_CUB_dom,smart_PDGF/VEGF_dom,pfscan_CUB_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFC HGNC ENSG00000145431 42 0 0 42 23 35.3846 GRIA2 0 genome.wustl.edu 37 4 158282799 158282799 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 4 158282799 158282799 A C SNP GRIA2 ENST00000296526 human ensembl 74_37 +1 known missense c.2401 p.S801R 1.000 pfam_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA2 HGNC ENSG00000120251 33 0 0 30 18 37.5 SPOCK3 0 genome.wustl.edu 37 4 167675653 167675653 + Nonsense_Mutation SNP T T A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 4 167675653 167675653 T A SNP SPOCK3 ENST00000512648 human ensembl 74_37 -1 putative nonsense c.937 p.R313* 0.992 NULL pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,smart_Kazal_dom - no_errors SPOCK3 HGNC ENSG00000196104 35 0 0 29 24 45.283 CLRN2 0 genome.wustl.edu 37 4 17528460 17528460 + Missense_Mutation SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 4 17528460 17528460 A G SNP CLRN2 ENST00000511148 human ensembl 74_37 +1 known missense c.454 p.I152V 0.933 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin - no_errors CLRN2 HGNC ENSG00000249581 43 0 0 11 12 52.1739 VEGFC 0 genome.wustl.edu 37 4 177713384 177713384 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 4 177713384 177713384 C T SNP VEGFC ENST00000280193 human ensembl 74_37 -1 known missense c.82 p.A28T 0.998 NULL pfam_PDGF/VEGF_dom,pfam_CXCXC_repeat,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors VEGFC HGNC ENSG00000150630 11 0 0 5 7 58.3333 AGA 0 genome.wustl.edu 37 4 178363527 178363527 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 4 178363527 178363527 C T SNP AGA ENST00000264595 human ensembl 74_37 -1 known missense c.3 p.M1I 0.376 NULL pfam_Peptidase_T2 - no_errors AGA HGNC ENSG00000038002 39 0 0 18 14 43.75 TENM3 0 genome.wustl.edu 37 4 183601767 183601767 + Missense_Mutation SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 4 183601767 183601767 A G SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.1711 p.K571E 1.000 smart_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 45 0 0 18 16 47.0588 WHSC1 0 genome.wustl.edu 37 4 1980505 1980505 + Missense_Mutation SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 4 1980505 1980505 T C SNP WHSC1 ENST00000382891 human ensembl 74_37 +1 known missense c.3967 p.C1323R 1.000 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom - no_errors WHSC1 HGNC ENSG00000109685 38 0 0 10 18 64.2857 KLB 0 genome.wustl.edu 37 4 39439358 39439358 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 4 39439358 39439358 G A SNP KLB ENST00000257408 human ensembl 74_37 +1 known missense c.1348 p.D450N 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KLB HGNC ENSG00000134962 157 0 0 55 33 37.5 NPFFR2 0 genome.wustl.edu 37 4 73012916 73012916 + Missense_Mutation SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 4 73012916 73012916 A G SNP NPFFR2 ENST00000308744 human ensembl 74_37 +1 known missense c.956 p.K319R 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPFFR2 HGNC ENSG00000056291 33 0 0 35 29 45.3125 FAM47E-STBD1 0 genome.wustl.edu 37 4 77230709 77230709 + Silent SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 4 77230709 77230709 T C SNP FAM47E-STBD1 ENST00000237642 human ensembl 74_37 +1 known silent c.633 p.S211 0.089 NULL pfam_CBM_fam20,superfamily_Carb-bd-like_fold,pfscan_CBM_fam20 - no_errors FAM47E-STBD1 HGNC ENSG00000118804 37 0 0 26 13 33.3333 PTPN13 0 genome.wustl.edu 37 4 87687620 87687620 + Nonsense_Mutation SNP G G T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 4 87687620 87687620 G T SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known nonsense c.4294 p.E1432* 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 13 0 0 4 3 42.8571 CTNND2 0 genome.wustl.edu 37 5 11411757 11411757 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 5 11411757 11411757 T G SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known missense c.330 p.Q110H 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 17 0 0 27 19 41.3043 IL4 0 genome.wustl.edu 37 5 132010172 132010172 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 5 132010172 132010172 G A SNP IL4 ENST00000231449 human ensembl 74_37 +1 known missense c.157 p.V53I 0.002 pfam_IL-4,superfamily_4_helix_cytokine-like_core,smart_IL-4/IL-13,pirsf_IL-4,prints_IL-4 pfam_IL-4,superfamily_4_helix_cytokine-like_core,smart_IL-4/IL-13,pirsf_IL-4,prints_IL-4 - no_errors IL4 HGNC ENSG00000113520 49 0 0 45 3 6.25 PCDHB3 0 genome.wustl.edu 37 5 140481367 140481367 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 5 140481367 140481367 C T SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known silent c.1134 p.N378 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 49 0 0 38 21 35.5932 ENSG00000255622 0 genome.wustl.edu 37 5 140536790 140536790 + Nonsense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 5 140536790 140536790 T G SNP ENSG00000255622 ENST00000539533 human ensembl 74_37 +1 known nonsense c.1214 p.L405* 0.679 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 PCDHB17 Uniprot_gn ENSG00000255622 19 0 0 19 13 40.625 FCHSD1 0 genome.wustl.edu 37 5 141026260 141026260 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 5 141026260 141026260 G A SNP FCHSD1 ENST00000435817 human ensembl 74_37 -1 known silent c.954 p.G318 0.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_FCH_dom,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors FCHSD1 HGNC ENSG00000197948 35 0 0 13 9 40.9091 FBXL7 0 genome.wustl.edu 37 5 15937126 15937126 + Missense_Mutation SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 5 15937126 15937126 A G SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known missense c.1307 p.K436R 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL7 HGNC ENSG00000183580 33 0 0 12 22 64.7059 GABRA6 0 genome.wustl.edu 37 5 161113263 161113263 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 5 161113263 161113263 A C SNP GABRA6 ENST00000274545 human ensembl 74_37 +1 known missense c.66 p.E22D 0.001 prints_GABBAa6_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA6 HGNC ENSG00000145863 52 0 0 40 24 37.5 MYO10 0 genome.wustl.edu 37 5 16671582 16671582 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 5 16671582 16671582 G A SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known silent c.5379 p.D1793 1.000 superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 21 0 0 31 15 32.6087 LOC202181 0 genome.wustl.edu 37 5 177059531 177059531 + RNA SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 5 177059531 177059531 C T SNP LOC202181 ENST00000515045 human ensembl 74_37 -1 known rna NULL NULL 0.021 - - - no_errors RP11-1277A3.2 Clone_based_vega_gene ENSG00000246596 77 0 0 25 29 53.7037 GUSBP1 0 genome.wustl.edu 37 5 21459614 21459614 + RNA SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 5 21459614 21459614 G A SNP GUSBP1 ENST00000509649 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GUSBP1 HGNC ENSG00000183666 105 0 0 33 43 56.5789 PARP8 0 genome.wustl.edu 37 5 50117139 50117139 + Silent SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 5 50117139 50117139 T C SNP PARP8 ENST00000281631 human ensembl 74_37 +1 known silent c.1761 p.P587 0.992 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP8 HGNC ENSG00000151883 56 0 0 8 31 79.4872 ELOVL2 0 genome.wustl.edu 37 6 10995345 10995345 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 6 10995345 10995345 C T SNP ELOVL2 ENST00000354666 human ensembl 74_37 -1 known missense c.400 p.V134I 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL2 HGNC ENSG00000197977 75 0 0 42 27 39.1304 RFPL4B 0 genome.wustl.edu 37 6 112671377 112671377 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 6 112671377 112671377 A C SNP RFPL4B ENST00000441065 human ensembl 74_37 +1 known missense c.467 p.K156T 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL4B HGNC ENSG00000251258 64 0 0 32 18 36 ROS1 0 genome.wustl.edu 37 6 117710930 117710930 + Missense_Mutation SNP G G C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 6 117710930 117710930 G C SNP ROS1 ENST00000368508 human ensembl 74_37 -1 known missense c.1342 p.R448G 0.067 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 38 0 0 29 17 36.9565 MYB 0 genome.wustl.edu 37 6 135539112 135539112 + Silent SNP C C A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 6 135539112 135539112 C A SNP MYB ENST00000341911 human ensembl 74_37 +1 known silent c.2280 p.V760 1.000 NULL pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYB HGNC ENSG00000118513 43 0 0 24 20 45.4545 KATNA1 0 genome.wustl.edu 37 6 149916259 149916259 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 6 149916259 149916259 C T SNP KATNA1 ENST00000335647 human ensembl 74_37 -1 known silent c.1389 p.E463 1.000 pfam_Vps4_C,superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors KATNA1 HGNC ENSG00000186625 62 0 0 26 18 40.9091 TIAM2 0 genome.wustl.edu 37 6 155465823 155465823 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 6 155465823 155465823 G A SNP TIAM2 ENST00000456144 human ensembl 74_37 +1 known missense c.1714 p.D572N 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC ENSG00000146426 56 0 0 30 28 48.2759 TIAM2 0 genome.wustl.edu 37 6 155485683 155485683 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 6 155485683 155485683 G A SNP TIAM2 ENST00000456144 human ensembl 74_37 +1 known silent c.2163 p.K721 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC ENSG00000146426 128 0 0 51 35 40.6977 PNLDC1 0 genome.wustl.edu 37 6 160225002 160225002 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 6 160225002 160225002 T G SNP PNLDC1 ENST00000610273 human ensembl 74_37 +1 known missense c.221 p.I74R 0.944 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors PNLDC1 HGNC ENSG00000146453 100 0 0 63 36 36.3636 MYLIP 0 genome.wustl.edu 37 6 16143326 16143326 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 6 16143326 16143326 G A SNP MYLIP ENST00000356840 human ensembl 74_37 +1 known silent c.540 p.S180 0.007 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam pfam_FERM_N,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,pfscan_Znf_RING,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors MYLIP HGNC ENSG00000007944 56 0 0 33 20 37.7358 SLC17A1 0 genome.wustl.edu 37 6 25820066 25820066 + Silent SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 6 25820066 25820066 T C SNP SLC17A1 ENST00000244527 human ensembl 74_37 -1 known silent c.285 p.Q95 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt - no_errors SLC17A1 HGNC ENSG00000124568 53 0 0 42 34 44.7368 SLC17A3 0 genome.wustl.edu 37 6 25850086 25850086 + Missense_Mutation SNP T T A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 6 25850086 25850086 T A SNP SLC17A3 ENST00000397060 human ensembl 74_37 -1 known missense c.1218 p.L406F 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A3 HGNC ENSG00000124564 69 0 0 34 27 44.2623 HIST1H4K 0 genome.wustl.edu 37 6 27799250 27799250 + Missense_Mutation SNP T T A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 6 27799250 27799250 T A SNP HIST1H4K ENST00000357549 human ensembl 74_37 -1 known missense c.56 p.H19L 1.000 superfamily_Histone-fold,smart_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4K HGNC ENSG00000197914 36 0 0 16 16 50 VARS2 0 genome.wustl.edu 37 6 30890003 30890003 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 6 30890003 30890003 G A SNP VARS2 ENST00000541562 human ensembl 74_37 +1 known silent c.2007 p.Q669 1.000 pfam_aa-tRNA-synth_Ia,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS2 HGNC ENSG00000137411 95 0 0 27 27 50 HLA-DRB6 0 genome.wustl.edu 37 6 32522570 32522570 + RNA SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 6 32522570 32522570 G A SNP HLA-DRB6 ENST00000411500 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HLA-DRB6 HGNC ENSG00000229391 105 0 0 27 5 15.625 SLC26A8 0 genome.wustl.edu 37 6 35965625 35965625 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 6 35965625 35965625 C T SNP SLC26A8 ENST00000355574 human ensembl 74_37 -1 known missense c.517 p.V173I 0.000 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A8 HGNC ENSG00000112053 91 0 0 39 23 37.0968 PKHD1 0 genome.wustl.edu 37 6 51484093 51484093 + Missense_Mutation SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 6 51484093 51484093 T C SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.12011 p.E4004G 0.834 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 50 0 0 28 28 50 MANEA 0 genome.wustl.edu 37 6 96054138 96054138 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 6 96054138 96054138 C T SNP MANEA ENST00000358812 human ensembl 74_37 +1 known missense c.1246 p.P416S 1.000 NULL superfamily_Glycoside_hydrolase_SF - no_errors MANEA HGNC ENSG00000172469 39 0 0 31 19 38 MMS22L 0 genome.wustl.edu 37 6 97629852 97629852 + Missense_Mutation SNP T T A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 6 97629852 97629852 T A SNP MMS22L ENST00000275053 human ensembl 74_37 -1 known missense c.2312 p.Q771L 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MMS22L HGNC ENSG00000146263 130 0 0 64 44 40.7407 MMS22L 0 genome.wustl.edu 37 6 97629859 97629859 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 6 97629859 97629859 T G SNP MMS22L ENST00000275053 human ensembl 74_37 -1 known missense c.2305 p.I769L 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MMS22L HGNC ENSG00000146263 131 0 0 65 51 43.9655 MUC17 0 genome.wustl.edu 37 7 100674400 100674400 + Splice_Site SNP G G C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 7 100674400 100674400 G C SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known splice_site c.83-1 e2-1 0.388 - - - no_errors MUC17 HGNC ENSG00000169876 112 0 0 58 55 48.6726 MUC17 0 genome.wustl.edu 37 7 100675338 100675338 + Missense_Mutation SNP G G T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 7 100675338 100675338 G T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.641 p.G214V 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 224 0 0 105 136 56.4315 MUC17 0 genome.wustl.edu 37 7 100675869 100675869 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 7 100675869 100675869 G A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.1172 p.G391E 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 289 0 0 147 179 54.908 PIK3CG 0 genome.wustl.edu 37 7 106508581 106508581 + Missense_Mutation SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 7 106508581 106508581 A G SNP PIK3CG ENST00000359195 human ensembl 74_37 +1 known missense c.575 p.D192G 1.000 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 53 0 0 35 23 39.6552 PIK3CG 0 genome.wustl.edu 37 7 106508825 106508825 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 7 106508825 106508825 C T SNP PIK3CG ENST00000359195 human ensembl 74_37 +1 known silent c.819 p.R273 0.429 pfam_PI3K_Ras-bd_dom,smart_PI3K_Ras-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 41 0 0 44 17 27.8689 GPR37 0 genome.wustl.edu 37 7 124404054 124404054 + Missense_Mutation SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 7 124404054 124404054 T C SNP GPR37 ENST00000303921 human ensembl 74_37 -1 known missense c.977 p.K326R 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37 HGNC ENSG00000170775 199 0 0 135 38 21.9653 GRM8 0 genome.wustl.edu 37 7 126409924 126409924 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 7 126409924 126409924 A C SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known missense c.1352 p.F451C 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 42 0 0 46 18 28.125 PLXNA4 0 genome.wustl.edu 37 7 131859619 131859619 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 7 131859619 131859619 A C SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.3935 p.I1312S 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 87 0 0 48 26 35.1351 LRGUK 0 genome.wustl.edu 37 7 133948719 133948719 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 7 133948719 133948719 C T SNP LRGUK ENST00000285928 human ensembl 74_37 +1 known missense c.2470 p.R824C 0.611 NULL pfam_GK/Ca_channel_bsu,pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like - no_errors LRGUK HGNC ENSG00000155530 33 0 0 19 18 48.6486 JHDM1D 0 genome.wustl.edu 37 7 139791694 139791694 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 7 139791694 139791694 G A SNP JHDM1D ENST00000397560 human ensembl 74_37 -1 known missense c.2641 p.P881S 0.993 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors JHDM1D HGNC ENSG00000006459 81 0 0 21 72 77.4194 ABCB5 0 genome.wustl.edu 37 7 20685666 20685666 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 7 20685666 20685666 T G SNP ABCB5 ENST00000404938 human ensembl 74_37 +1 putative missense c.886 p.F296V 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB5 HGNC ENSG00000004846 43 0 0 77 24 23.7624 VPS41 0 genome.wustl.edu 37 7 38783011 38783011 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 7 38783011 38783011 C T SNP VPS41 ENST00000310301 human ensembl 74_37 -1 known missense c.2113 p.D705N 1.000 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41 pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING - no_errors VPS41 HGNC ENSG00000006715 58 0 0 66 28 29.7872 POU6F2 0 genome.wustl.edu 37 7 39247061 39247061 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 7 39247061 39247061 A C SNP POU6F2 ENST00000403058 human ensembl 74_37 +1 known missense c.353 p.N118T 1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC ENSG00000106536 122 0 0 184 27 12.7962 ERV3-1 0 genome.wustl.edu 37 7 64452191 64452191 + Missense_Mutation SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 7 64452191 64452191 A G SNP ERV3-1 ENST00000394323 human ensembl 74_37 -1 known missense c.1214 p.L405P 0.480 NULL NULL - no_errors ERV3-1 HGNC ENSG00000213462 23 0 0 31 6 16.2162 MLXIPL 0 genome.wustl.edu 37 7 73008307 73008307 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 7 73008307 73008307 A C SNP MLXIPL ENST00000313375 human ensembl 74_37 -1 known missense c.2447 p.L816R 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLXIPL HGNC ENSG00000009950 34 0 0 28 20 41.6667 MAGI2 0 genome.wustl.edu 37 7 78636484 78636484 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 7 78636484 78636484 A C SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known missense c.340 p.L114V 1.000 smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like 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 41 0 0 48 34 41.4634 CACNA2D1 0 genome.wustl.edu 37 7 81746398 81746398 + Missense_Mutation SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 7 81746398 81746398 T C SNP CACNA2D1 ENST00000356253 human ensembl 74_37 -1 known missense c.488 p.H163R 1.000 pfam_VWA_N pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 66 0 0 76 48 38.7097 PCLO 0 genome.wustl.edu 37 7 82545288 82545288 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 7 82545288 82545288 T G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.12014 p.K4005T 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 170 0 0 233 205 46.8037 ABCB1 0 genome.wustl.edu 37 7 87148690 87148690 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 7 87148690 87148690 C T SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known missense c.2879 p.G960E 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 53 0 0 57 26 31.3253 CCDC132 0 genome.wustl.edu 37 7 92983058 92983058 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 7 92983058 92983058 G A SNP CCDC132 ENST00000305866 human ensembl 74_37 +1 known missense c.2570 p.R857Q 1.000 pfam_DUF2451_C pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C - no_errors CCDC132 HGNC ENSG00000004766 68 0 0 154 28 15.3846 RIMS2 0 genome.wustl.edu 37 8 104955056 104955056 + Missense_Mutation SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 8 104955056 104955056 T C SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.2603 p.L868P 1.000 superfamily_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 26 0 0 46 11 19.2982 ZFPM2 0 genome.wustl.edu 37 8 106813708 106813708 + Silent SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 8 106813708 106813708 T C SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known silent c.1398 p.S466 0.854 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 33 0 0 89 20 18.3486 SOX7 0 genome.wustl.edu 37 8 10683705 10683705 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 8 10683705 10683705 G A SNP SOX7 ENST00000553390 human ensembl 74_37 -1 known silent c.351 p.S117 0.999 superfamily_HMG_box_dom,pfscan_HMG_box_dom pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 16 0 0 11 3 21.4286 PKHD1L1 0 genome.wustl.edu 37 8 110476639 110476639 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 8 110476639 110476639 T G SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.7578 p.F2526L 1.000 superfamily_Pectin_lyase_fold/virulence,smart_PbH1 pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 20 0 0 19 19 50 CSMD3 0 genome.wustl.edu 37 8 113237068 113237068 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 8 113237068 113237068 C T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.11056 p.A3686T 0.184 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 94 0 0 118 80 40.404 CSMD3 0 genome.wustl.edu 37 8 113256779 113256779 + Missense_Mutation SNP T T A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 8 113256779 113256779 T A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.10246 p.T3416S 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 48 0 0 56 26 31.7073 ZFAT 0 genome.wustl.edu 37 8 135521911 135521911 + Missense_Mutation SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 8 135521911 135521911 A G SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known missense c.3443 p.L1148P 0.797 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 83 0 0 75 23 23.4694 FAM135B 0 genome.wustl.edu 37 8 139164740 139164740 + Missense_Mutation SNP C C A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 8 139164740 139164740 C A SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.1978 p.D660Y 0.977 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 66 0 0 80 28 25.9259 BAI1 0 genome.wustl.edu 37 8 143569806 143569806 + Nonsense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 8 143569806 143569806 G A SNP BAI1 ENST00000323289 human ensembl 74_37 +1 known nonsense c.2390 p.W797* 1.000 pfam_DUF3497,prints_GPCR_2_brain-spec_angio_inhib pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 75 0 0 61 21 25.6098 CSMD1 0 genome.wustl.edu 37 8 3855585 3855585 + Missense_Mutation SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 8 3855585 3855585 A G SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.658 p.S220P 0.985 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 11 0 0 4 5 55.5556 PRKDC 0 genome.wustl.edu 37 8 48733370 48733370 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 8 48733370 48733370 G A SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known silent c.9243 p.Y3081 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 20 0 0 29 8 21.6216 PCMTD1 0 genome.wustl.edu 37 8 52733168 52733168 + Missense_Mutation SNP G G T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 8 52733168 52733168 G T SNP PCMTD1 ENST00000360540 human ensembl 74_37 -1 known missense c.817 p.P273T 1.000 NULL pfam_PCMT - no_errors PCMTD1 HGNC ENSG00000168300 131 0 0 205 11 5.09259 NKAIN3 0 genome.wustl.edu 37 8 63659635 63659635 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 8 63659635 63659635 G A SNP NKAIN3 ENST00000328472 human ensembl 74_37 +1 known missense c.418 p.V140I 0.146 pfam_Na/K-Atpase_Interacting pfam_Na/K-Atpase_Interacting - no_errors NKAIN3 HGNC ENSG00000185942 18 0 0 50 5 9.09091 CYP7B1 0 genome.wustl.edu 37 8 65527645 65527645 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 8 65527645 65527645 T G SNP CYP7B1 ENST00000310193 human ensembl 74_37 -1 known missense c.995 p.K332T 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP7B1 HGNC ENSG00000172817 58 0 0 72 13 15.2941 EYA1 0 genome.wustl.edu 37 8 72184108 72184108 + Nonsense_Mutation SNP G G T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 8 72184108 72184108 G T SNP EYA1 ENST00000340726 human ensembl 74_37 -1 known nonsense c.851 p.S284* 1.000 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA1 HGNC ENSG00000104313 198 1 0.502513 281 79 21.9444 TRPA1 0 genome.wustl.edu 37 8 72970017 72970017 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 8 72970017 72970017 C T SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.1028 p.R343H 0.998 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 37 0 0 51 35 40.6977 JPH1 0 genome.wustl.edu 37 8 75227106 75227106 + Missense_Mutation SNP C C G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 8 75227106 75227106 C G SNP JPH1 ENST00000342232 human ensembl 74_37 -1 known missense c.1129 p.A377P 1.000 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH1 HGNC ENSG00000104369 98 0 0 101 68 40.2367 LRRCC1 0 genome.wustl.edu 37 8 86041417 86041417 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 8 86041417 86041417 G A SNP LRRCC1 ENST00000360375 human ensembl 74_37 +1 known missense c.1429 p.E477K 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin - no_errors LRRCC1 HGNC ENSG00000133739 113 0 0 133 37 21.7647 ABCA1 0 genome.wustl.edu 37 9 107645431 107645431 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 9 107645431 107645431 G A SNP ABCA1 ENST00000374736 human ensembl 74_37 -1 known missense c.310 p.R104C 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 53 0 0 46 43 48.3146 PAPPA 0 genome.wustl.edu 37 9 118949686 118949686 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 9 118949686 118949686 A C SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known missense c.669 p.Q223H 0.997 superfamily_ConA-like_lec_gl_sf,smart_LamG-like pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 33 0 0 57 13 18.5714 ASTN2 0 genome.wustl.edu 37 9 119903754 119903754 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 9 119903754 119903754 G A SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.1019 p.A340V 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 28 0 0 18 32 64 NUP214 0 genome.wustl.edu 37 9 134015972 134015972 + Missense_Mutation SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 9 134015972 134015972 T C SNP NUP214 ENST00000451030 human ensembl 74_37 +1 known missense c.1169 p.M390T 1.000 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 91 0 0 74 121 62.0513 AK8 0 genome.wustl.edu 37 9 135742311 135742311 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 9 135742311 135742311 C T SNP AK8 ENST00000298545 human ensembl 74_37 -1 known missense c.199 p.A67T 0.997 pfam_Adenylate_kin,superfamily_P-loop_NTPase pfam_Adenylate_kin,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin - no_errors AK8 HGNC ENSG00000165695 64 0 0 41 77 65.2542 GTF3C5 0 genome.wustl.edu 37 9 135926199 135926199 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 9 135926199 135926199 G A SNP GTF3C5 ENST00000372108 human ensembl 74_37 +1 known missense c.602 p.G201D 0.105 pfam_TF_IIIC_su-5 pfam_TF_IIIC_su-5 - no_errors GTF3C5 HGNC ENSG00000148308 71 0 0 110 23 17.2932 PMPCA 0 genome.wustl.edu 37 9 139313586 139313586 + RNA SNP G G T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 9 139313586 139313586 G T SNP PMPCA ENST00000462616 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PMPCA HGNC ENSG00000165688 43 0 0 63 32 33.6842 ENTPD2 0 genome.wustl.edu 37 9 139946039 139946039 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 9 139946039 139946039 C T SNP ENTPD2 ENST00000355097 human ensembl 74_37 -1 known silent c.309 p.A103 0.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD2 HGNC ENSG00000054179 52 0 0 52 4 7.14286 MLLT3 0 genome.wustl.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 9 20414346 20414346 G A SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known silent c.498 p.S166 0.975 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 40 0 0 72 4 5.26316 TRPM6 0 genome.wustl.edu 37 9 77454993 77454993 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 9 77454993 77454993 A C SNP TRPM6 ENST00000451710 human ensembl 74_37 -1 known missense c.491 p.V164G 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 92 0 0 55 43 43.8776 AGTPBP1 0 genome.wustl.edu 37 9 88203282 88203282 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 9 88203282 88203282 T G SNP AGTPBP1 ENST00000376109 human ensembl 74_37 -1 known missense c.2870 p.Q957P 1.000 pfam_Peptidase_M14 pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC ENSG00000135049 27 0 0 43 12 21.8182 S1PR3 0 genome.wustl.edu 37 9 91616715 91616715 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 9 91616715 91616715 C T SNP S1PR3 ENST00000358157 human ensembl 74_37 +1 known silent c.600 p.C200 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_Cnbnoid_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG3_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_EDG1_rcpt,prints_Cnbnoid_rcpt - no_errors S1PR3 HGNC ENSG00000213694 62 0 0 81 18 18.1818 IPPK 0 genome.wustl.edu 37 9 95400381 95400381 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 9 95400381 95400381 G A SNP IPPK ENST00000287996 human ensembl 74_37 -1 known missense c.818 p.S273L 0.186 pfam_Ins_P5_2-kin pfam_Ins_P5_2-kin - no_errors IPPK HGNC ENSG00000127080 19 0 0 23 6 20.6897 XKRX 0 genome.wustl.edu 37 X 100177864 100177864 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e X 100177864 100177864 G A SNP XKRX ENST00000328526 human ensembl 74_37 -1 known silent c.561 p.I187 0.995 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKRX HGNC ENSG00000182489 57 0 0 48 32 40 COL4A5 0 genome.wustl.edu 37 X 107936061 107936061 + Missense_Mutation SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e X 107936061 107936061 A G SNP COL4A5 ENST00000328300 human ensembl 74_37 +1 known missense c.4612 p.R1538G 1.000 pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 24 0 0 27 32 54.2373 CT47B1 0 genome.wustl.edu 37 X 120009284 120009284 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e X 120009284 120009284 C T SNP CT47B1 ENST00000371311 human ensembl 74_37 -1 known missense c.241 p.A81T 0.000 NULL NULL - no_errors CT47B1 HGNC ENSG00000236446 19 0 0 22 23 51.1111 DCAF12L2 0 genome.wustl.edu 37 X 125298575 125298575 + Missense_Mutation SNP C C G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e X 125298575 125298575 C G SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.1333 p.V445L 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 51 0 0 57 34 37.3626 FAM45B 0 genome.wustl.edu 37 X 129629682 129629682 + RNA SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e X 129629682 129629682 G A SNP FAM45B ENST00000592932 human ensembl 74_37 +1 known rna NULL NULL 0.459 - - - no_errors FAM45B HGNC ENSG00000221930 44 0 0 37 37 50 PASD1 0 genome.wustl.edu 37 X 150840247 150840247 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e X 150840247 150840247 A C SNP PASD1 ENST00000370357 human ensembl 74_37 +1 known missense c.1433 p.N478T 0.000 NULL superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 18 0 0 16 23 58.9744 ZBED1 0 genome.wustl.edu 37 X 2406722 2406722 + Missense_Mutation SNP C C A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e X 2406722 2406722 C A SNP ZBED1 ENST00000381218 human ensembl 74_37 -1 known missense c.2039 p.G680V 0.162 NULL pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED1 HGNC ENSG00000214717 62 0 0 28 3 9.67742 DMD 0 genome.wustl.edu 37 X 32490353 32490353 + Silent SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e X 32490353 32490353 T C SNP DMD ENST00000357033 human ensembl 74_37 -1 known silent c.2877 p.E959 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 45 0 0 36 32 47.0588 TIMM17B 0 genome.wustl.edu 37 X 48754135 48754135 + Nonsense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e X 48754135 48754135 C T SNP TIMM17B ENST00000396779 human ensembl 74_37 -1 known nonsense c.33 p.W11* 1.000 pfam_Tim17/Tim22/Tim23/PMP24 pfam_Tim17/Tim22/Tim23/PMP24 - no_errors TIMM17B HGNC ENSG00000126768 25 0 0 24 16 40 USP51 0 genome.wustl.edu 37 X 55513611 55513611 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e X 55513611 55513611 A C SNP USP51 ENST00000500968 human ensembl 74_37 -1 known missense c.1762 p.L588V 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP51 HGNC ENSG00000247746 32 0 0 30 21 41.1765 LPAR4 0 genome.wustl.edu 37 X 78011422 78011422 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e X 78011422 78011422 A C SNP LPAR4 ENST00000435339 human ensembl 74_37 +1 known missense c.1056 p.E352D 0.663 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors LPAR4 HGNC ENSG00000147145 39 0 0 34 36 51.4286 POU3F4 0 genome.wustl.edu 37 X 82763585 82763585 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e X 82763585 82763585 C T SNP POU3F4 ENST00000373200 human ensembl 74_37 +1 known missense c.253 p.R85C 1.000 pirsf_Transcription_factor_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F4 HGNC ENSG00000196767 10 0 0 5 4 44.4444 NELL1 0 genome.wustl.edu 37 11 21596648 21596649 + RNA INS - - T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 21596648 21596649 - T INS NELL1 ENST00000529218 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors NELL1 HGNC ENSG00000165973 9 0 0 14 6 30 FAM111B 0 genome.wustl.edu 37 11 58892377 58892377 + Frame_Shift_Del DEL A A - TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 11 58892377 58892377 A - DEL FAM111B ENST00000343597 human ensembl 74_37 +1 known frame_shift_del c.807 p.K272fs 0.000 NULL superfamily_Trypsin-like_Pept_dom - no_errors FAM111B HGNC ENSG00000189057 35 0 0 54 6 10 KSR2 0 genome.wustl.edu 37 12 118198972 118198972 + Frame_Shift_Del DEL G G - TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 12 118198972 118198972 G - DEL KSR2 ENST00000339824 human ensembl 74_37 -1 known frame_shift_del c.830 p.P277fs 0.998 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 214 0 0 172 59 25.5411 POLDIP2 0 genome.wustl.edu 37 17 26684390 26684391 + Frame_Shift_Ins INS - - C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 17 26684390 26684391 - C INS POLDIP2 ENST00000540200 human ensembl 74_37 -1 known frame_shift_ins c.82_81 p.P27fs 0.174:0.160 NULL pfam_ApaG_domain,pfam_Hemimethylated_DNA-bd_dom,superfamily_ApaG_domain,superfamily_Hemimethylated_DNA-bd_dom,pfscan_ApaG_domain - no_errors POLDIP2 HGNC ENSG00000004142 8 0 0 4 2 33.3333 EFCAB5 0 genome.wustl.edu 37 17 28384851 28384852 + Frame_Shift_Ins INS - - T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 17 28384851 28384852 - T INS EFCAB5 ENST00000394835 human ensembl 74_37 +1 known frame_shift_ins c.2523_2524 p.K843fs 0.010:0.977 NULL pfscan_EF_hand_dom - no_errors EFCAB5 HGNC ENSG00000176927 75 0 0 103 25 19.5312 PSMC5 0 genome.wustl.edu 37 17 61907794 61907796 + In_Frame_Del DEL AAG AAG - TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 17 61907794 61907796 AAG - DEL PSMC5 ENST00000310144 human ensembl 74_37 +1 known in_frame_del c.485_487 p.E163in_frame_del 1.000:0.999:1.000 superfamily_P-loop_NTPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC5 HGNC ENSG00000087191 73 0 0 35 21 37.5 PIGN 0 genome.wustl.edu 37 18 59742019 59742021 + In_Frame_Del DEL ATA ATA - TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 ATA ATA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 18 59742019 59742021 ATA - DEL PIGN ENST00000357637 human ensembl 74_37 -1 known in_frame_del c.2612_2610 p.I870in_frame_del 1.000:0.998:0.599 pfam_GPI_EtnP_transferase_1_C pfam_GPI_EtnP_transferase_1_C,pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGN HGNC ENSG00000197563 24 0 0 14 15 51.7241 VAPA 0 genome.wustl.edu 37 18 9931832 9931846 + In_Frame_Del DEL AAATCTTAAATTGCG AAATCTTAAATTGCG - TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 AAATCTTAAATTGCG AAATCTTAAATTGCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 18 9931832 9931846 AAATCTTAAATTGCG - DEL VAPA ENST00000340541 human ensembl 74_37 +1 known in_frame_del c.105_119 p.LKLRN37in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:0.997:1.000:1.000:0.961:1.000:1.000:0.997:1.000:1.000 pfam_MSP_dom,superfamily_PapD-like,pirsf_Vesicle-associated_membrane,pfscan_MSP_dom pfam_MSP_dom,superfamily_PapD-like,pirsf_Vesicle-associated_membrane,pfscan_MSP_dom - no_errors VAPA HGNC ENSG00000101558 91 0 0 56 23 29.1139 APC 0 genome.wustl.edu 37 5 112175951 112175952 + Frame_Shift_Ins INS - - A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 5 112175951 112175952 - A INS APC ENST00000257430 human ensembl 74_37 +1 known frame_shift_ins c.4660_4661 p.T1556fs 0.925:0.945 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 63 0 0 28 34 54.8387 INTS4L2 0 genome.wustl.edu 37 7 65150713 65150714 + RNA INS - - A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 7 65150713 65150714 - A INS INTS4L2 ENST00000430126 human ensembl 74_37 +1 known rna NULL NULL 1.000:0.995 - - - no_errors INTS4L2 HGNC ENSG00000232270 26 0 0 29 7 19.4444 ENSG00000199405 0 genome.wustl.edu 37 8 56815414 56815414 + RNA DEL T T - TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 8 56815414 56815414 T - DEL ENSG00000199405 ENST00000362535 human ensembl 74_37 -1 novel rna NULL NULL 0.582 - - - no_errors SNORA1 RFAM ENSG00000199405 10 0 0 10 4 28.5714 TMEM245 0 genome.wustl.edu 37 9 111798631 111798632 + In_Frame_Ins INS - - TGGCACTGC TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 9 111798631 111798632 - TGGCACTGC INS TMEM245 ENST00000374586 human ensembl 74_37 -1 known in_frame_ins c.2254_2253 p.751in_frame_insAVP 1.000:0.472 pfam_UPF0118 pfam_UPF0118 - no_errors TMEM245 HGNC ENSG00000106771 47 0 0 41 6 12.766 ZNF79 0 genome.wustl.edu 37 9 130207312 130207313 + Frame_Shift_Del DEL TA TA - TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 9 130207312 130207313 TA - DEL ZNF79 ENST00000342483 human ensembl 74_37 +1 known frame_shift_del c.1333_1334 p.Y445fs 0.993:0.902 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF79 HGNC ENSG00000196152 112 0 0 123 26 17.4497 HRCT1 0 genome.wustl.edu 37 9 35906584 35906586 + In_Frame_Del DEL CCA CCA - TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 CCA CCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 9 35906584 35906586 CCA - DEL HRCT1 ENST00000354323 human ensembl 74_37 +1 known in_frame_del c.300_302 p.H104in_frame_del 0.016:0.009:0.003 NULL NULL - no_errors HRCT1 HGNC ENSG00000196196 8 0 0 20 3 13.0435 CNTNAP3B 0 genome.wustl.edu 37 9 43844265 43844265 + Frame_Shift_Del DEL G G - TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e 9 43844265 43844265 G - DEL CNTNAP3B ENST00000377564 human ensembl 74_37 +1 known frame_shift_del c.1599 p.L534fs 0.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3B HGNC ENSG00000154529 43 0 0 49 5 9.25926 DUSP9 0 genome.wustl.edu 37 X 152915673 152915674 + Frame_Shift_Ins INS - - G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e X 152915673 152915674 - G INS DUSP9 ENST00000342782 human ensembl 74_37 +1 known frame_shift_ins c.1068_1069 p.Q358fs 0.006:0.150 pirsf_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP9 HGNC ENSG00000130829 74 0 0 57 29 33.7209 ATRX 0 genome.wustl.edu 37 X 76937769 76937770 + Frame_Shift_Ins INS - - T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e X 76937769 76937770 - T INS ATRX ENST00000373344 human ensembl 74_37 -1 known frame_shift_ins c.2979_2978 p.K994fs 0.993:0.997 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 35 0 0 80 61 43.2624 CYLC1 0 genome.wustl.edu 37 X 83129336 83129336 + Frame_Shift_Del DEL T T - TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e X 83129336 83129336 T - DEL CYLC1 ENST00000329312 human ensembl 74_37 +1 known frame_shift_del c.1620 p.S541fs 0.065 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 23 0 0 28 15 34.8837