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 VPS13D 0 genome.wustl.edu 37 1 12395817 12395817 + Missense_Mutation SNP G G T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 1 12395817 12395817 G T SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.8484 p.K2828N 0.990 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 130 0 0 149 27 15.3409 NPR1 0 genome.wustl.edu 37 1 153661563 153661563 + Missense_Mutation SNP A A G TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 1 153661563 153661563 A G SNP NPR1 ENST00000368680 human ensembl 74_37 +1 known missense c.2552 p.Q851R 1.000 smart_A/G_cyclase pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR1 HGNC ENSG00000169418 219 0 0 384 47 10.9049 AQP10 0 genome.wustl.edu 37 1 154294533 154294533 + Missense_Mutation SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 1 154294533 154294533 C T SNP AQP10 ENST00000324978 human ensembl 74_37 +1 known missense c.230 p.S77L 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_10,prints_Aquaporin_3,tigrfam_MIP - no_errors AQP10 HGNC ENSG00000143595 38 0 0 49 8 14.0351 FCRLA 0 genome.wustl.edu 37 1 161680576 161680576 + Missense_Mutation SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 1 161680576 161680576 G A SNP FCRLA ENST00000367959 human ensembl 74_37 +1 known missense c.175 p.E59K 0.914 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCRLA HGNC ENSG00000132185 47 0 0 47 23 32.8571 C1orf112 0 genome.wustl.edu 37 1 169816931 169816931 + Missense_Mutation SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 1 169816931 169816931 C T SNP C1orf112 ENST00000286031 human ensembl 74_37 +1 known missense c.2045 p.P682L 1.000 NULL NULL - no_errors C1orf112 HGNC ENSG00000000460 115 0 0 157 19 10.7955 ALDH4A1 0 genome.wustl.edu 37 1 19208375 19208375 + Missense_Mutation SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 1 19208375 19208375 C T SNP ALDH4A1 ENST00000290597 human ensembl 74_37 -1 known missense c.685 p.V229M 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH - no_errors ALDH4A1 HGNC ENSG00000159423 31 0 0 36 8 18.1818 KLHDC8A 0 genome.wustl.edu 37 1 205308335 205308335 + Silent SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 1 205308335 205308335 G A SNP KLHDC8A ENST00000367155 human ensembl 74_37 -1 known silent c.744 p.F248 0.544 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC8A HGNC ENSG00000162873 42 0 0 43 3 6.52174 EPHB2 0 genome.wustl.edu 37 1 23237000 23237000 + Missense_Mutation SNP T T G TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 1 23237000 23237000 T G SNP EPHB2 ENST00000400191 human ensembl 74_37 +1 known missense c.2628 p.I876M 0.680 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_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 63 0 0 64 22 25.5814 FMN2 0 genome.wustl.edu 37 1 240370099 240370099 + Missense_Mutation SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 1 240370099 240370099 G A SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.1987 p.E663K 1.000 NULL pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 41 0 0 70 8 10.2564 AHCTF1 0 genome.wustl.edu 37 1 247024375 247024375 + Missense_Mutation SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 1 247024375 247024375 C T SNP AHCTF1 ENST00000326225 human ensembl 74_37 -1 known missense c.3985 p.E1329K 0.982 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors AHCTF1 HGNC ENSG00000153207 46 0 0 42 31 42.4658 OR6F1 0 genome.wustl.edu 37 1 247875864 247875864 + Missense_Mutation SNP T T G TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 1 247875864 247875864 T G SNP OR6F1 ENST00000302084 human ensembl 74_37 -1 known missense c.194 p.N65T 0.090 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6F1 HGNC ENSG00000169214 122 1 0.813008 115 60 34.2857 FAM159A 0 genome.wustl.edu 37 1 53108542 53108542 + Missense_Mutation SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 1 53108542 53108542 G A SNP FAM159A ENST00000517870 human ensembl 74_37 +1 known missense c.190 p.A64T 0.998 NULL NULL - no_errors FAM159A HGNC ENSG00000182183 452 1 0.220751 568 106 15.727 LZTS2 0 genome.wustl.edu 37 10 102765299 102765299 + Missense_Mutation SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 10 102765299 102765299 C T SNP LZTS2 ENST00000370220 human ensembl 74_37 +1 known missense c.1153 p.R385W 1.000 NULL NULL - no_errors LZTS2 HGNC ENSG00000107816 60 0 0 84 14 14.2857 GTPBP4 0 genome.wustl.edu 37 10 1058414 1058414 + Nonsense_Mutation SNP G G T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 10 1058414 1058414 G T SNP GTPBP4 ENST00000360803 human ensembl 74_37 +1 known nonsense c.1354 p.E452* 1.000 NULL pfam_NOG1_Rossman_fold_dom,pfam_NOG_C,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,superfamily_P-loop_NTPase,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors GTPBP4 HGNC ENSG00000107937 50 0 0 86 26 23.2143 ADARB2 0 genome.wustl.edu 37 10 1405937 1405937 + Silent SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 10 1405937 1405937 C T SNP ADARB2 ENST00000381312 human ensembl 74_37 -1 known silent c.363 p.S121 0.451 NULL pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADARB2 HGNC ENSG00000185736 34 0 0 33 34 50.7463 PTER 0 genome.wustl.edu 37 10 16528620 16528620 + RNA SNP A A C TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 10 16528620 16528620 A C SNP PTER ENST00000485788 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PTER HGNC ENSG00000165983 107 0 0 175 35 16.6667 PARD3 0 genome.wustl.edu 37 10 34671584 34671584 + Missense_Mutation SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 10 34671584 34671584 G A SNP PARD3 ENST00000374789 human ensembl 74_37 -1 known missense c.1283 p.S428L 0.157 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 113 0 0 149 51 25.5 PTEN 0 genome.wustl.edu 37 10 89653801 89653801 + Silent SNP T T C TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 10 89653801 89653801 T C SNP PTEN ENST00000371953 human ensembl 74_37 +1 known silent c.99 p.I33 1.000 smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 107 0 0 92 32 25.8065 TUBB8 0 genome.wustl.edu 37 10 93581 93581 + Silent SNP G G T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 10 93581 93581 G T SNP TUBB8 ENST00000309812 human ensembl 74_37 -1 known silent c.751 p.R251 1.000 superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Gamma_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB8 HGNC ENSG00000173876 22 0 0 58 5 7.93651 SORBS1 0 genome.wustl.edu 37 10 97174384 97174384 + Missense_Mutation SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 10 97174384 97174384 C T SNP SORBS1 ENST00000361941 human ensembl 74_37 -1 known missense c.677 p.R226H 0.752 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 40 0 0 51 15 22.7273 UBE4A 0 genome.wustl.edu 37 11 118239372 118239372 + Missense_Mutation SNP T T G TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 11 118239372 118239372 T G SNP UBE4A ENST00000431736 human ensembl 74_37 +1 known missense c.148 p.S50A 1.000 NULL pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4A HGNC ENSG00000110344 316 0 0 380 57 13.0435 SORL1 0 genome.wustl.edu 37 11 121420786 121420786 + Silent SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 11 121420786 121420786 G A SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known silent c.2169 p.R723 1.000 smart_VPS10 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 79 0 0 68 27 28.4211 LUZP2 0 genome.wustl.edu 37 11 24750779 24750779 + Missense_Mutation SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 11 24750779 24750779 C T SNP LUZP2 ENST00000336930 human ensembl 74_37 +1 known missense c.127 p.R43C 0.997 NULL NULL - no_errors LUZP2 HGNC ENSG00000187398 82 0 0 124 21 14.4828 METTL15 0 genome.wustl.edu 37 11 28349659 28349659 + Missense_Mutation SNP T T G TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 11 28349659 28349659 T G SNP METTL15 ENST00000303459 human ensembl 74_37 +1 known missense c.796 p.F266V 0.000 NULL pfam_RsmH,superfamily_SAM-dep_MeTrfase_MraW_recog,tigrfam_RsmH - no_errors METTL15 HGNC ENSG00000169519 77 0 0 68 9 11.6883 OR51B4 0 genome.wustl.edu 37 11 5322906 5322906 + Missense_Mutation SNP C C A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 11 5322906 5322906 C A SNP OR51B4 ENST00000380224 human ensembl 74_37 -1 known missense c.271 p.A91S 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51B4 HGNC ENSG00000183251 79 0 0 77 43 35.8333 OR5I1 0 genome.wustl.edu 37 11 55703769 55703769 + Missense_Mutation SNP C C A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 11 55703769 55703769 C A SNP OR5I1 ENST00000301532 human ensembl 74_37 -1 known missense c.108 p.L36F 0.001 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5I1 HGNC ENSG00000167825 51 0 0 96 20 17.2414 OR5I1 0 genome.wustl.edu 37 11 55703771 55703771 + Missense_Mutation SNP A A T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 11 55703771 55703771 A T SNP OR5I1 ENST00000301532 human ensembl 74_37 -1 known missense c.106 p.L36M 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5I1 HGNC ENSG00000167825 50 0 0 93 20 17.6991 OR52N4 0 genome.wustl.edu 37 11 5776554 5776554 + Missense_Mutation SNP A A C TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 11 5776554 5776554 A C SNP OR52N4 ENST00000317254 human ensembl 74_37 +1 known missense c.584 p.K195T 0.020 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 OR52N4 HGNC ENSG00000181074 140 0 0 199 11 5.2381 AHNAK 0 genome.wustl.edu 37 11 62298626 62298626 + Missense_Mutation SNP G G C TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 11 62298626 62298626 G C SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.3263 p.S1088C 0.998 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 313 1 0.318471 279 109 28.0928 CHRM1 0 genome.wustl.edu 37 11 62677615 62677615 + Missense_Mutation SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 11 62677615 62677615 G A SNP CHRM1 ENST00000306960 human ensembl 74_37 -1 known missense c.958 p.R320W 0.362 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M1_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM1 HGNC ENSG00000168539 126 0 0 168 26 13.4021 TSKU 0 genome.wustl.edu 37 11 76507252 76507252 + Missense_Mutation SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 11 76507252 76507252 G A SNP TSKU ENST00000333090 human ensembl 74_37 +1 known missense c.592 p.A198T 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors TSKU HGNC ENSG00000182704 136 0 0 165 70 29.7872 TYR 0 genome.wustl.edu 37 11 88911920 88911920 + Missense_Mutation SNP T T A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 11 88911920 88911920 T A SNP TYR ENST00000263321 human ensembl 74_37 +1 known missense c.799 p.S267T 0.997 pfam_Tyrosinase,superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC ENSG00000077498 92 0 0 93 18 16.2162 NOX4 0 genome.wustl.edu 37 11 89224395 89224395 + Missense_Mutation SNP C C G TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 11 89224395 89224395 C G SNP NOX4 ENST00000263317 human ensembl 74_37 -1 known missense c.20 p.S7T 1.000 NULL pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX4 HGNC ENSG00000086991 27 0 0 46 11 19.2982 SART3 0 genome.wustl.edu 37 12 108920075 108920075 + Missense_Mutation SNP G G C TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 12 108920075 108920075 G C SNP SART3 ENST00000228284 human ensembl 74_37 -1 known missense c.2171 p.P724R 0.973 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom - no_errors SART3 HGNC ENSG00000075856 73 0 0 60 66 52.381 USP30 0 genome.wustl.edu 37 12 109523552 109523552 + Missense_Mutation SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 12 109523552 109523552 G A SNP USP30 ENST00000257548 human ensembl 74_37 +1 known missense c.1370 p.R457Q 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP30 HGNC ENSG00000135093 125 0 0 165 26 13.6126 PRB4 0 genome.wustl.edu 37 12 11461181 11461181 + Missense_Mutation SNP G G T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 12 11461181 11461181 G T SNP PRB4 ENST00000279575 human ensembl 74_37 -1 known missense c.736 p.P246T 0.032 NULL NULL - no_errors PRB4 HGNC ENSG00000230657 266 0 0 276 119 30.1266 FZD10 0 genome.wustl.edu 37 12 130648388 130648388 + Missense_Mutation SNP C C A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 12 130648388 130648388 C A SNP FZD10 ENST00000229030 human ensembl 74_37 +1 known missense c.901 p.Q301K 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD10 HGNC ENSG00000111432 117 0 0 171 32 15.7635 SLCO1C1 0 genome.wustl.edu 37 12 20874876 20874876 + Missense_Mutation SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 12 20874876 20874876 G A SNP SLCO1C1 ENST00000381552 human ensembl 74_37 +1 known missense c.914 p.R305K 0.390 pfam_OA_transporter,pfam_MFS,pfam_Sub_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 52 0 0 69 16 18.8235 PDZRN4 0 genome.wustl.edu 37 12 41966380 41966380 + Missense_Mutation SNP T T G TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 12 41966380 41966380 T G SNP PDZRN4 ENST00000402685 human ensembl 74_37 +1 known missense c.1799 p.L600R 0.650 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 67 0 0 71 15 17.4419 KCNA5 0 genome.wustl.edu 37 12 5154190 5154190 + Missense_Mutation SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 12 5154190 5154190 G A SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known missense c.877 p.A293T 0.011 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 88 0 0 75 61 44.8529 IRAK3 0 genome.wustl.edu 37 12 66605310 66605310 + Missense_Mutation SNP G G T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 12 66605310 66605310 G T SNP IRAK3 ENST00000261233 human ensembl 74_37 +1 known missense c.521 p.G174V 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Death_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom - no_errors IRAK3 HGNC ENSG00000090376 97 0 0 118 13 9.92366 IRAK3 0 genome.wustl.edu 37 12 66605311 66605311 + Silent SNP A A T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 12 66605311 66605311 A T SNP IRAK3 ENST00000261233 human ensembl 74_37 +1 known silent c.522 p.G174 0.998 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Death_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom - no_errors IRAK3 HGNC ENSG00000090376 97 0 0 118 14 10.6061 CLSTN3 0 genome.wustl.edu 37 12 7286186 7286186 + Missense_Mutation SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 12 7286186 7286186 C T SNP CLSTN3 ENST00000266546 human ensembl 74_37 +1 known missense c.205 p.R69W 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC ENSG00000139182 68 0 0 92 14 13.2075 NAV3 0 genome.wustl.edu 37 12 78582033 78582033 + Missense_Mutation SNP A A C TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 12 78582033 78582033 A C SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.5796 p.Q1932H 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 87 0 0 118 20 14.4928 CLEC4E 0 genome.wustl.edu 37 12 8688703 8688703 + Silent SNP A A T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 12 8688703 8688703 A T SNP CLEC4E ENST00000299663 human ensembl 74_37 -1 known silent c.471 p.P157 0.942 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,prints_AntifreezeII - no_errors CLEC4E HGNC ENSG00000166523 74 0 0 101 9 8.18182 ZC3H13 0 genome.wustl.edu 37 13 46616346 46616346 + Missense_Mutation SNP T T C TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 13 46616346 46616346 T C SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known missense c.292 p.T98A 0.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 162 1 0.613497 120 91 43.128 WDFY2 0 genome.wustl.edu 37 13 52330495 52330495 + Missense_Mutation SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 13 52330495 52330495 G A SNP WDFY2 ENST00000298125 human ensembl 74_37 +1 known missense c.961 p.V321I 1.000 pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDFY2 HGNC ENSG00000139668 136 1 0.729927 118 93 44.0758 GPC6 0 genome.wustl.edu 37 13 93879869 93879869 + Missense_Mutation SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 13 93879869 93879869 G A SNP GPC6 ENST00000377047 human ensembl 74_37 +1 known missense c.160 p.G54R 1.000 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 29 0 0 43 6 12.2449 AHNAK2 0 genome.wustl.edu 37 14 105405265 105405265 + Missense_Mutation SNP G G C TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 14 105405265 105405265 G C SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.16523 p.T5508R 0.005 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 28 0 0 51 6 10.5263 AHNAK2 0 genome.wustl.edu 37 14 105410061 105410061 + Missense_Mutation SNP C C A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 14 105410061 105410061 C A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.11727 p.K3909N 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 297 0 0 360 158 30.5019 OR4K1 0 genome.wustl.edu 37 14 20404608 20404608 + Silent SNP T T G TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 14 20404608 20404608 T G SNP OR4K1 ENST00000285600 human ensembl 74_37 +1 known silent c.783 p.P261 0.085 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 OR4K1 HGNC ENSG00000155249 238 0 0 330 28 7.82123 ARID4A 0 genome.wustl.edu 37 14 58820474 58820474 + Missense_Mutation SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 14 58820474 58820474 G A SNP ARID4A ENST00000355431 human ensembl 74_37 +1 known missense c.1754 p.R585Q 1.000 pfam_Tudor-knot,superfamily_Chromodomain-like pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ENSG00000032219 115 1 0.862069 107 27 20.1493 SIPA1L1 0 genome.wustl.edu 37 14 72139213 72139213 + Missense_Mutation SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 14 72139213 72139213 G A SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.2978 p.R993H 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 45 0 0 64 27 29.6703 SERPINA3 0 genome.wustl.edu 37 14 95081025 95081025 + Missense_Mutation SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 14 95081025 95081025 G A SNP SERPINA3 ENST00000393078 human ensembl 74_37 +1 known missense c.247 p.A83T 0.995 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA3 HGNC ENSG00000196136 143 0 0 216 30 12.1951 FBN1 0 genome.wustl.edu 37 15 48748847 48748847 + Missense_Mutation SNP C C A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 15 48748847 48748847 C A SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.5409 p.L1803F 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 138 0 0 137 29 17.4699 FBN1 0 genome.wustl.edu 37 15 48773939 48773939 + Missense_Mutation SNP T T G TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 15 48773939 48773939 T G SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.3877 p.S1293R 0.998 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 177 1 0.561798 167 35 17.3267 PDE8A 0 genome.wustl.edu 37 15 85681096 85681096 + Missense_Mutation SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 15 85681096 85681096 G A SNP PDE8A ENST00000310298 human ensembl 74_37 +1 known missense c.2452 p.E818K 0.898 NULL pfam_PDEase_catalytic_dom,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,superfamily_PAS,superfamily_CheY-like_superfamily,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8A HGNC ENSG00000073417 32 0 0 24 19 44.186 ENSG00000270017 0 genome.wustl.edu 37 15 95398817 95398817 + RNA SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 15 95398817 95398817 C T SNP ENSG00000270017 ENST00000602330 human ensembl 74_37 -1 known rna NULL NULL 0.010 - - - no_errors CTD-2576F9.2 Clone_based_vega_gene ENSG00000270017 48 0 0 42 10 19.2308 PKD1P6 0 genome.wustl.edu 37 16 15221955 15221955 + RNA SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 16 15221955 15221955 G A SNP PKD1P6 ENST00000424133 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PKD1P6 HGNC ENSG00000250251 76 0 0 103 17 14.1667 NPIPB6 0 genome.wustl.edu 37 16 28354350 28354350 + Missense_Mutation SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 16 28354350 28354350 C T SNP NPIPB6 ENST00000532254 human ensembl 74_37 -1 novel missense c.856 p.E286K 0.002 NULL NULL - no_errors NPIPB6 HGNC ENSG00000198156 54 0 0 17 2 10.5263 ENSG00000261711 0 genome.wustl.edu 37 16 34713634 34713634 + Splice_Site SNP A A G TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 16 34713634 34713634 A G SNP ENSG00000261711 ENST00000564452 human ensembl 74_37 -1 known splice_site c.NULL NULL 0.006 - - - no_errors RP11-80F22.9 Clone_based_vega_gene ENSG00000261711 17 0 0 21 3 12.5 NF1 0 genome.wustl.edu 37 17 29550553 29550553 + Missense_Mutation SNP A A T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 17 29550553 29550553 A T SNP NF1 ENST00000358273 human ensembl 74_37 +1 known missense c.1813 p.I605F 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 66 0 0 114 15 11.6279 EVI2B 0 genome.wustl.edu 37 17 29632425 29632425 + Missense_Mutation SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 17 29632425 29632425 C T SNP EVI2B ENST00000544462 human ensembl 74_37 -1 known missense c.248 p.G83E 0.556 NULL NULL - no_errors EVI2B HGNC ENSG00000185862 258 0 0 344 58 14.4279 EVI2B 0 genome.wustl.edu 37 17 29632469 29632469 + Silent SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 17 29632469 29632469 C T SNP EVI2B ENST00000544462 human ensembl 74_37 -1 known silent c.204 p.G68 0.025 NULL NULL - no_errors EVI2B HGNC ENSG00000185862 267 1 0.373134 385 52 11.8993 EVI2B 0 genome.wustl.edu 37 17 29632543 29632543 + Missense_Mutation SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 17 29632543 29632543 C T SNP EVI2B ENST00000544462 human ensembl 74_37 -1 known missense c.130 p.E44K 0.882 NULL NULL - no_errors EVI2B HGNC ENSG00000185862 199 0 0 273 34 11.0749 EVI2B 0 genome.wustl.edu 37 17 29632556 29632556 + Missense_Mutation SNP C C A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 17 29632556 29632556 C A SNP EVI2B ENST00000544462 human ensembl 74_37 -1 known missense c.117 p.E39D 0.005 NULL NULL - no_errors EVI2B HGNC ENSG00000185862 162 0 0 239 30 11.1524 EVI2B 0 genome.wustl.edu 37 17 29632562 29632562 + Silent SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 17 29632562 29632562 C T SNP EVI2B ENST00000544462 human ensembl 74_37 -1 known silent c.111 p.K37 0.094 NULL NULL - no_errors EVI2B HGNC ENSG00000185862 148 0 0 215 29 11.8852 SLFN11 0 genome.wustl.edu 37 17 33690427 33690427 + Missense_Mutation SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 17 33690427 33690427 G A SNP SLFN11 ENST00000308377 human ensembl 74_37 -1 known missense c.400 p.R134C 0.000 NULL pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN11 HGNC ENSG00000172716 100 0 0 79 62 43.9716 C17orf53 0 genome.wustl.edu 37 17 42226115 42226115 + Missense_Mutation SNP C C A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 17 42226115 42226115 C A SNP C17orf53 ENST00000319977 human ensembl 74_37 +1 known missense c.944 p.P315H 0.002 NULL NULL - no_errors C17orf53 HGNC ENSG00000125319 434 0 0 456 95 17.2414 NFE2L1 0 genome.wustl.edu 37 17 46128984 46128984 + Silent SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 17 46128984 46128984 C T SNP NFE2L1 ENST00000362042 human ensembl 74_37 +1 known silent c.504 p.T168 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L1 HGNC ENSG00000082641 94 0 0 123 56 31.2849 USH1G 0 genome.wustl.edu 37 17 72916295 72916295 + Silent SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 17 72916295 72916295 G A SNP USH1G ENST00000319642 human ensembl 74_37 -1 known silent c.636 p.G212 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors USH1G HGNC ENSG00000182040 108 0 0 61 92 60.1307 GCDH 0 genome.wustl.edu 37 19 13004403 13004403 + Missense_Mutation SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 19 13004403 13004403 C T SNP GCDH ENST00000590530 human ensembl 74_37 +1 known missense c.496 p.R166C 0.713 NULL superfamily_AcylCoA_DH/oxidase_NM_dom - no_errors GCDH HGNC ENSG00000105607 118 0 0 94 24 20.339 EMR3 0 genome.wustl.edu 37 19 14762009 14762009 + Missense_Mutation SNP T T G TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 19 14762009 14762009 T G SNP EMR3 ENST00000253673 human ensembl 74_37 -1 known missense c.585 p.E195D 0.934 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CD97 - no_errors EMR3 HGNC ENSG00000131355 75 0 0 41 53 56.383 TM6SF2 0 genome.wustl.edu 37 19 19381866 19381866 + Missense_Mutation SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 19 19381866 19381866 G A SNP TM6SF2 ENST00000389363 human ensembl 74_37 -1 known missense c.164 p.S55F 0.803 NULL pfam_Transmembrane_6/97 - no_errors TM6SF2 HGNC ENSG00000213996 134 0 0 60 40 40 C19orf55 0 genome.wustl.edu 37 19 36252987 36252987 + Missense_Mutation SNP C C A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 19 36252987 36252987 C A SNP C19orf55 ENST00000396908 human ensembl 74_37 +1 known missense c.379 p.P127T 0.565 NULL NULL - no_errors C19orf55 HGNC ENSG00000167595 34 0 0 38 4 9.52381 CEACAM1 0 genome.wustl.edu 37 19 43031284 43031284 + Silent SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 19 43031284 43031284 G A SNP CEACAM1 ENST00000161559 human ensembl 74_37 -1 known silent c.333 p.N111 0.001 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM1 HGNC ENSG00000079385 407 0 0 491 290 37.1319 NOVA2 0 genome.wustl.edu 37 19 46443906 46443906 + Missense_Mutation SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 19 46443906 46443906 C T SNP NOVA2 ENST00000263257 human ensembl 74_37 -1 known missense c.694 p.A232T 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA2 HGNC ENSG00000104967 23 0 0 33 8 19.5122 IGFL4 0 genome.wustl.edu 37 19 46543157 46543157 + Missense_Mutation SNP A A C TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 19 46543157 46543157 A C SNP IGFL4 ENST00000377697 human ensembl 74_37 -1 known missense c.368 p.L123R 0.012 NULL NULL - no_errors IGFL4 HGNC ENSG00000204869 108 0 0 181 50 21.645 ZNF320 0 genome.wustl.edu 37 19 53367144 53367144 + RNA SNP G G C TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 19 53367144 53367144 G C SNP ZNF320 ENST00000595202 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ZNF320 HGNC ENSG00000182986 11 0 0 19 5 20.8333 FIZ1 0 genome.wustl.edu 37 19 56104081 56104081 + Missense_Mutation SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 19 56104081 56104081 C T SNP FIZ1 ENST00000221665 human ensembl 74_37 -1 known missense c.1226 p.R409H 0.178 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FIZ1 HGNC ENSG00000179943 86 0 0 154 25 13.9665 NLRP8 0 genome.wustl.edu 37 19 56465888 56465888 + Missense_Mutation SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 19 56465888 56465888 C T SNP NLRP8 ENST00000291971 human ensembl 74_37 +1 known missense c.464 p.S155L 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC ENSG00000179709 86 0 0 147 39 20.9677 ZIM2 0 genome.wustl.edu 37 19 57334113 57334113 + Silent SNP A A C TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 19 57334113 57334113 A C SNP ZIM2 ENST00000593931 human ensembl 74_37 -1 putative silent c.198 p.S66 0.056 NULL NULL - no_errors ZIM2 HGNC ENSG00000269699 42 0 0 49 14 22.2222 ZNF417 0 genome.wustl.edu 37 19 58421206 58421206 + Missense_Mutation SNP A A T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 19 58421206 58421206 A T SNP ZNF417 ENST00000312026 human ensembl 74_37 -1 known missense c.440 p.F147Y 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 ZNF417 HGNC ENSG00000173480 44 0 0 86 9 9.47368 OR2Z1 0 genome.wustl.edu 37 19 8841852 8841852 + Silent SNP C C G TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 19 8841852 8841852 C G SNP OR2Z1 ENST00000324060 human ensembl 74_37 +1 known silent c.462 p.L154 0.025 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 OR2Z1 HGNC ENSG00000181733 193 1 0.515464 154 39 20.2073 OR7G3 0 genome.wustl.edu 37 19 9237253 9237253 + Missense_Mutation SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 19 9237253 9237253 G A SNP OR7G3 ENST00000305444 human ensembl 74_37 -1 known missense c.374 p.A125V 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_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7G3 HGNC ENSG00000170920 119 0 0 82 35 29.9145 UGGT1 0 genome.wustl.edu 37 2 128918778 128918778 + Missense_Mutation SNP A A C TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 2 128918778 128918778 A C SNP UGGT1 ENST00000259253 human ensembl 74_37 +1 known missense c.2761 p.I921L 1.000 NULL pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC ENSG00000136731 185 0 0 195 42 17.7215 NCKAP5 0 genome.wustl.edu 37 2 133540771 133540771 + Missense_Mutation SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 2 133540771 133540771 C T SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.3613 p.E1205K 0.009 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 75 0 0 75 56 42.7481 SLC4A10 0 genome.wustl.edu 37 2 162751304 162751304 + Missense_Mutation SNP G G C TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 2 162751304 162751304 G C SNP SLC4A10 ENST00000446997 human ensembl 74_37 +1 known missense c.1310 p.R437P 1.000 superfamily_PTrfase/Anion_transptr,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A10 HGNC ENSG00000144290 101 0 0 72 51 41.4634 TTN 0 genome.wustl.edu 37 2 179434516 179434516 + Missense_Mutation SNP C C G TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 2 179434516 179434516 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.68639 p.S22880T 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 69 0 0 62 47 43.1193 TTN-AS1 0 genome.wustl.edu 37 2 179470099 179470099 + RNA SNP T T C TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 2 179470099 179470099 T C SNP TTN-AS1 ENST00000419746 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TTN-AS1 HGNC ENSG00000237298 30 0 0 25 5 16.6667 WDR35 0 genome.wustl.edu 37 2 20133220 20133220 + Missense_Mutation SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 2 20133220 20133220 G A SNP WDR35 ENST00000345530 human ensembl 74_37 -1 known missense c.2633 p.A878V 1.000 superfamily_ARM-type_fold,pirsf_WD_repeat_p35 pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR35 HGNC ENSG00000118965 76 0 0 64 49 43.3628 PTPRN 0 genome.wustl.edu 37 2 220167050 220167050 + Missense_Mutation SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 2 220167050 220167050 G A SNP PTPRN ENST00000295718 human ensembl 74_37 -1 known missense c.803 p.S268L 0.975 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN HGNC ENSG00000054356 34 0 0 52 7 11.8644 UGT1A4 0 genome.wustl.edu 37 2 234676494 234676494 + Splice_Site SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 2 234676494 234676494 G A SNP UGT1A4 ENST00000373409 human ensembl 74_37 +1 known splice_site c.1000-1 e3-1 1.000 - - - no_errors UGT1A4 HGNC ENSG00000244474 142 0 0 161 33 17.0103 ACKR3 0 genome.wustl.edu 37 2 237489447 237489447 + Silent SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 2 237489447 237489447 C T SNP ACKR3 ENST00000272928 human ensembl 74_37 +1 known silent c.339 p.G113 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR7 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR7,prints_GPCR_Rhodpsn,prints_ATII_rcpt,prints_Formyl_pep_rcpt - no_errors ACKR3 HGNC ENSG00000144476 161 0 0 221 25 10.1626 CAPN13 0 genome.wustl.edu 37 2 30985951 30985951 + Silent SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 2 30985951 30985951 C T SNP CAPN13 ENST00000295055 human ensembl 74_37 -1 known silent c.771 p.E257 0.014 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN13 HGNC ENSG00000162949 16 0 0 13 3 18.75 LZTS3 0 genome.wustl.edu 37 20 3147762 3147762 + Missense_Mutation SNP G G T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 20 3147762 3147762 G T SNP LZTS3 ENST00000329152 human ensembl 74_37 -1 known missense c.48 p.D16E 0.821 NULL NULL - no_errors LZTS3 Uniprot_gn ENSG00000088899 14 0 0 25 2 7.40741 TGM2 0 genome.wustl.edu 37 20 36767991 36767991 + Missense_Mutation SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 20 36767991 36767991 C T SNP TGM2 ENST00000361475 human ensembl 74_37 -1 known missense c.1165 p.D389N 1.000 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM2 HGNC ENSG00000198959 58 0 0 120 18 13.0435 TSHZ2 0 genome.wustl.edu 37 20 51872284 51872284 + Missense_Mutation SNP C C A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 20 51872284 51872284 C A SNP TSHZ2 ENST00000371497 human ensembl 74_37 +1 known missense c.2287 p.Q763K 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 99 0 0 230 92 28.5714 CDH26 0 genome.wustl.edu 37 20 58547035 58547035 + Missense_Mutation SNP T T C TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 20 58547035 58547035 T C SNP CDH26 ENST00000244047 human ensembl 74_37 +1 known missense c.250 p.Y84H 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 127 0 0 135 71 34.466 LAMA5 0 genome.wustl.edu 37 20 60899589 60899589 + Missense_Mutation SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 20 60899589 60899589 G A SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.5551 p.R1851W 1.000 pfam_EGF_laminin,pfscan_TNFR/NGFR_Cys_rich_reg pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 21 0 0 38 17 30.9091 DSCAM 0 genome.wustl.edu 37 21 41561117 41561117 + Missense_Mutation SNP C C A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 21 41561117 41561117 C A SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.2405 p.G802V 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 101 0 0 83 26 23.8532 UMODL1 0 genome.wustl.edu 37 21 43543199 43543199 + Missense_Mutation SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 21 43543199 43543199 G A SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known missense c.3470 p.S1157N 0.474 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 65 0 0 50 10 16.6667 IGLV4-3 0 genome.wustl.edu 37 22 23214061 23214061 + Missense_Mutation SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 22 23214061 23214061 G A SNP IGLV4-3 ENST00000390318 human ensembl 74_37 +1 known missense c.218 p.G73D 0.002 pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGLV4-3 HGNC ENSG00000211672 200 0 0 234 39 14.2857 C22orf31 0 genome.wustl.edu 37 22 29456825 29456825 + Missense_Mutation SNP T T G TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 22 29456825 29456825 T G SNP C22orf31 ENST00000216071 human ensembl 74_37 -1 known missense c.10 p.I4L 0.001 NULL NULL - no_errors C22orf31 HGNC ENSG00000100249 162 0 0 194 52 21.1382 RTCB 0 genome.wustl.edu 37 22 32797882 32797882 + Missense_Mutation SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 22 32797882 32797882 C T SNP RTCB ENST00000216038 human ensembl 74_37 -1 known missense c.349 p.G117R 1.000 pfam_RtcB,superfamily_RtcB pfam_RtcB,superfamily_RtcB - no_errors RTCB HGNC ENSG00000100220 52 0 0 47 20 29.8507 SYN3 0 genome.wustl.edu 37 22 32914313 32914313 + Missense_Mutation SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 22 32914313 32914313 G A SNP SYN3 ENST00000332840 human ensembl 74_37 -1 known missense c.1327 p.R443C 1.000 NULL pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_dom,prints_Synapsin - no_errors SYN3 HGNC ENSG00000185666 115 0 0 115 28 19.5804 CEP97 0 genome.wustl.edu 37 3 101451490 101451490 + Silent SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 3 101451490 101451490 G A SNP CEP97 ENST00000327230 human ensembl 74_37 +1 known silent c.720 p.Q240 1.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors CEP97 HGNC ENSG00000182504 53 0 0 62 10 13.8889 DPPA4 0 genome.wustl.edu 37 3 109049629 109049629 + Missense_Mutation SNP T T C TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 3 109049629 109049629 T C SNP DPPA4 ENST00000335658 human ensembl 74_37 -1 known missense c.421 p.I141V 0.367 NULL NULL - no_errors DPPA4 HGNC ENSG00000121570 126 0 0 116 23 16.5468 QTRTD1 0 genome.wustl.edu 37 3 113804674 113804674 + Missense_Mutation SNP T T C TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 3 113804674 113804674 T C SNP QTRTD1 ENST00000281273 human ensembl 74_37 +1 known missense c.1171 p.F391L 1.000 pfam_tRNA_ribo_trans-like,superfamily_tRNA_ribo_trans-like,tigrfam_tRNA_ribo_trans-like pfam_tRNA_ribo_trans-like,superfamily_tRNA_ribo_trans-like,tigrfam_tRNA_ribo_trans-like - no_errors QTRTD1 HGNC ENSG00000151576 155 0 0 145 67 31.6038 GSK3B 0 genome.wustl.edu 37 3 119720972 119720972 + Missense_Mutation SNP C C A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 3 119720972 119720972 C A SNP GSK3B ENST00000316626 human ensembl 74_37 -1 known missense c.203 p.G68V 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_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 GSK3B HGNC ENSG00000082701 309 1 0.322581 245 98 28.5714 POLQ 0 genome.wustl.edu 37 3 121238895 121238895 + Missense_Mutation SNP C C G TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 3 121238895 121238895 C G SNP POLQ ENST00000264233 human ensembl 74_37 -1 known missense c.1291 p.A431P 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 105 0 0 105 41 28.0822 PDIA5 0 genome.wustl.edu 37 3 122864408 122864408 + Missense_Mutation SNP A A G TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 3 122864408 122864408 A G SNP PDIA5 ENST00000316218 human ensembl 74_37 +1 known missense c.950 p.K317R 0.043 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors PDIA5 HGNC ENSG00000065485 69 0 0 62 27 30.3371 IFT122 0 genome.wustl.edu 37 3 129226544 129226544 + Missense_Mutation SNP T T G TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 3 129226544 129226544 T G SNP IFT122 ENST00000296266 human ensembl 74_37 +1 known missense c.2978 p.F993C 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC ENSG00000163913 151 0 0 132 33 20 NLGN1 0 genome.wustl.edu 37 3 173998882 173998882 + Missense_Mutation SNP T T A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 3 173998882 173998882 T A SNP NLGN1 ENST00000401917 human ensembl 74_37 +1 known missense c.2381 p.L794H 1.000 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 78 0 0 91 23 20.1754 OXSR1 0 genome.wustl.edu 37 3 38207426 38207426 + Missense_Mutation SNP A A C TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 3 38207426 38207426 A C SNP OXSR1 ENST00000311806 human ensembl 74_37 +1 known missense c.59 p.Q20P 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors OXSR1 HGNC ENSG00000172939 22 0 0 18 15 45.4545 SCN10A 0 genome.wustl.edu 37 3 38797307 38797307 + Missense_Mutation SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 3 38797307 38797307 C T SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.1433 p.R478H 0.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 262 0 0 116 162 58.2734 CCNA2 0 genome.wustl.edu 37 4 122740665 122740665 + Silent SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 4 122740665 122740665 C T SNP CCNA2 ENST00000274026 human ensembl 74_37 -1 known silent c.864 p.K288 1.000 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNA2 HGNC ENSG00000145386 155 0 0 136 38 21.8391 MLF1IP 0 genome.wustl.edu 37 4 185637777 185637777 + Missense_Mutation SNP T T G TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 4 185637777 185637777 T G SNP MLF1IP ENST00000281453 human ensembl 74_37 -1 known missense c.392 p.K131T 0.077 NULL NULL - no_errors MLF1IP HGNC ENSG00000151725 71 0 0 46 19 29.2308 KIAA1211 0 genome.wustl.edu 37 4 57189674 57189674 + Missense_Mutation SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 4 57189674 57189674 C T SNP KIAA1211 ENST00000504228 human ensembl 74_37 +1 known missense c.3319 p.R1107W 0.504 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 37 0 0 20 27 57.4468 LPHN3 0 genome.wustl.edu 37 4 62758415 62758415 + Missense_Mutation SNP A A T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 4 62758415 62758415 A T SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known missense c.1522 p.T508S 1.000 NULL pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 123 0 0 116 21 15.3285 GC 0 genome.wustl.edu 37 4 72631275 72631275 + Missense_Mutation SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 4 72631275 72631275 C T SNP GC ENST00000273951 human ensembl 74_37 -1 known missense c.347 p.G116D 0.999 pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_ALB/AFP/VDB pfam_Serum_albumin_N,pfam_VitD-bind_III,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_VitD-bd,prints_ALB/AFP/VDB - no_errors GC HGNC ENSG00000145321 128 0 0 140 24 14.6341 FRAS1 0 genome.wustl.edu 37 4 79421075 79421075 + Missense_Mutation SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 4 79421075 79421075 G A SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.9316 p.G3106S 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 98 0 0 78 37 32.1739 DGKQ 0 genome.wustl.edu 37 4 954871 954871 + Missense_Mutation SNP G G T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 4 954871 954871 G T SNP DGKQ ENST00000273814 human ensembl 74_37 -1 known missense c.2693 p.P898Q 0.995 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ras-assoc,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKQ HGNC ENSG00000145214 34 0 0 74 4 5.12821 PCDHB14 0 genome.wustl.edu 37 5 140603363 140603363 + Missense_Mutation SNP T T C TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 5 140603363 140603363 T C SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known missense c.286 p.C96R 1.000 pfam_Cadherin_N,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 278 0 0 266 127 32.3155 PCDHGB3 0 genome.wustl.edu 37 5 140750067 140750067 + Missense_Mutation SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 5 140750067 140750067 G A SNP PCDHGB3 ENST00000576222 human ensembl 74_37 +1 known missense c.106 p.A36T 0.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB3 HGNC ENSG00000262209 103 0 0 124 28 18.4211 DNAJC21 0 genome.wustl.edu 37 5 34939087 34939087 + Missense_Mutation SNP G G C TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 5 34939087 34939087 G C SNP DNAJC21 ENST00000382021 human ensembl 74_37 +1 known missense c.868 p.E290Q 0.423 NULL pfam_DnaJ_domain,pfam_Znf_C2H2_jaz,superfamily_DnaJ_domain,smart_DnaJ_domain,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC21 HGNC ENSG00000168724 25 0 0 27 11 28.9474 PTCD2 0 genome.wustl.edu 37 5 71634515 71634515 + Missense_Mutation SNP C C G TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 5 71634515 71634515 C G SNP PTCD2 ENST00000308077 human ensembl 74_37 +1 known missense c.706 p.L236V 0.002 NULL pfam_Ribosomal_S27_mit,tigrfam_Pentatricopeptide_repeat - no_errors PTCD2 HGNC ENSG00000049883 89 0 0 61 23 27.381 SYNE1 0 genome.wustl.edu 37 6 152712629 152712629 + Missense_Mutation SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 6 152712629 152712629 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.7787 p.R2596H 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 74 0 0 96 15 13.5135 TDRD6 0 genome.wustl.edu 37 6 46656928 46656928 + Missense_Mutation SNP A A G TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 6 46656928 46656928 A G SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known missense c.1063 p.S355G 0.851 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 99 0 0 90 75 45.4545 PRIM2 0 genome.wustl.edu 37 6 57244780 57244780 + Missense_Mutation SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 6 57244780 57244780 G A SNP PRIM2 ENST00000607273 human ensembl 74_37 +1 known missense c.541 p.E181K 0.611 NULL pfam_DNA_primase_lsu_euk/arc - no_errors PRIM2 HGNC ENSG00000146143 8 0 0 2 3 60 DPPA5 0 genome.wustl.edu 37 6 74063727 74063727 + Silent SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 6 74063727 74063727 G A SNP DPPA5 ENST00000370370 human ensembl 74_37 -1 known silent c.141 p.I47 0.042 NULL NULL - no_errors DPPA5 HGNC ENSG00000203909 65 0 0 77 57 42.5373 PTPRZ1 0 genome.wustl.edu 37 7 121679509 121679509 + Missense_Mutation SNP G G T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 7 121679509 121679509 G T SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.5504 p.R1835I 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,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_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 102 0 0 148 20 11.9048 CASP2 0 genome.wustl.edu 37 7 142991371 142991371 + Splice_Site SNP A A G TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 7 142991371 142991371 A G SNP CASP2 ENST00000350623 human ensembl 74_37 +1 known splice_site c.308-2 e4-2 1.000 - - - no_errors CASP2 HGNC ENSG00000106144 184 0 0 285 20 6.55738 OR6B1 0 genome.wustl.edu 37 7 143701471 143701471 + Missense_Mutation SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 7 143701471 143701471 C T SNP OR6B1 ENST00000408922 human ensembl 74_37 +1 known missense c.382 p.R128C 0.833 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B1 HGNC ENSG00000221813 90 0 0 117 123 51.25 DPP6 0 genome.wustl.edu 37 7 154564623 154564623 + Missense_Mutation SNP G G T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 7 154564623 154564623 G T SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known missense c.1107 p.E369D 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 19 0 0 47 6 11.3208 ZNRF2P2 0 genome.wustl.edu 37 7 29690705 29690705 + RNA SNP C C A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 7 29690705 29690705 C A SNP ZNRF2P2 ENST00000426767 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ZNRF2P2 HGNC ENSG00000225264 10 0 0 9 7 43.75 FKBP14 0 genome.wustl.edu 37 7 30058688 30058688 + Missense_Mutation SNP A A C TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 7 30058688 30058688 A C SNP FKBP14 ENST00000222803 human ensembl 74_37 -1 known missense c.401 p.I134S 1.000 pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP14 HGNC ENSG00000106080 114 0 0 168 29 14.7208 HECW1 0 genome.wustl.edu 37 7 43447231 43447231 + Missense_Mutation SNP G G T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 7 43447231 43447231 G T SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known missense c.702 p.Q234H 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 49 0 0 64 6 8.57143 TNS3 0 genome.wustl.edu 37 7 47408817 47408817 + Missense_Mutation SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 7 47408817 47408817 C T SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known missense c.1426 p.D476N 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 53 0 0 54 28 34.1463 PRKAR1B 0 genome.wustl.edu 37 7 716895 716895 + Silent SNP G G C TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 7 716895 716895 G C SNP PRKAR1B ENST00000360274 human ensembl 74_37 -1 known silent c.411 p.L137 1.000 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR1B HGNC ENSG00000188191 155 0 0 183 69 27.381 PCLO 0 genome.wustl.edu 37 7 82584756 82584756 + Missense_Mutation SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 7 82584756 82584756 G A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.5513 p.P1838L 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 266 0 0 467 71 13.197 ZNF804B 0 genome.wustl.edu 37 7 88847482 88847482 + Missense_Mutation SNP A A C TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 7 88847482 88847482 A C SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.122 p.K41T 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 75 0 0 80 56 41.1765 ZFAT-AS1 0 genome.wustl.edu 37 8 135612650 135612650 + RNA SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 8 135612650 135612650 C T SNP ZFAT-AS1 ENST00000505776 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZFAT-AS1 HGNC ENSG00000248492 182 0 0 174 55 24.0175 PLEC 0 genome.wustl.edu 37 8 144995534 144995534 + Missense_Mutation SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 8 144995534 144995534 C T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.8866 p.V2956M 0.987 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 99 0 0 111 66 37.2881 NRG1 0 genome.wustl.edu 37 8 32621861 32621861 + Nonsense_Mutation SNP G G T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 8 32621861 32621861 G T SNP NRG1 ENST00000338921 human ensembl 74_37 +1 known nonsense c.1888 p.E630* 1.000 pfam_Neuregulin_1_C pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 52 0 0 58 18 23.6842 COL5A1 0 genome.wustl.edu 37 9 137619115 137619115 + Missense_Mutation SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 9 137619115 137619115 G A SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known missense c.658 p.D220N 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 111 0 0 152 21 12.1387 FAM219A 0 genome.wustl.edu 37 9 34401082 34401082 + Silent SNP G G A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 9 34401082 34401082 G A SNP FAM219A ENST00000445726 human ensembl 74_37 -1 known silent c.438 p.D146 0.693 NULL NULL - no_errors FAM219A HGNC ENSG00000164970 90 0 0 113 27 19.2857 KIAA1210 0 genome.wustl.edu 37 X 118223450 118223450 + Silent SNP A A G TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 X 118223450 118223450 A G SNP KIAA1210 ENST00000402510 human ensembl 74_37 -1 known silent c.1743 p.N581 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 121 0 0 74 67 47.5177 ATP11C 0 genome.wustl.edu 37 X 138880884 138880884 + Silent SNP A A G TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 X 138880884 138880884 A G SNP ATP11C ENST00000327569 human ensembl 74_37 -1 known silent c.738 p.N246 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11C HGNC ENSG00000101974 57 0 0 40 9 18.3673 WAS 0 genome.wustl.edu 37 X 48542701 48542701 + Silent SNP C C T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 X 48542701 48542701 C T SNP WAS ENST00000376701 human ensembl 74_37 +1 known silent c.162 p.Y54 1.000 pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 pfam_WH1/EVH1,pfam_CRIB_dom,pfam_WH2_dom,superfamily_WASP_C,smart_WH1/EVH1,smart_CRIB_dom,smart_WH2_dom,pfscan_CRIB_dom,pfscan_WH1/EVH1,pfscan_WH2_dom - no_errors WAS HGNC ENSG00000015285 67 0 0 47 21 30.8824 PHF8 0 genome.wustl.edu 37 X 54020053 54020053 + Missense_Mutation SNP C C G TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 X 54020053 54020053 C G SNP PHF8 ENST00000357988 human ensembl 74_37 -1 known missense c.1715 p.G572A 1.000 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 PHF8 HGNC ENSG00000172943 58 0 0 47 36 43.3735 FLG 0 genome.wustl.edu 37 1 152287870 152287870 + Frame_Shift_Del DEL T T - TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 1 152287870 152287870 T - DEL FLG ENST00000368799 human ensembl 74_37 -1 known frame_shift_del c.63 p.D22fs 0.000 pfam_S100_Ca-bd_sub pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 142 0 0 197 20 9.21659 THRAP3 0 genome.wustl.edu 37 1 36762331 36762332 + Frame_Shift_Ins INS - - A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 1 36762331 36762332 - A INS THRAP3 ENST00000354618 human ensembl 74_37 +1 known frame_shift_ins c.2263_2264 p.T757fs 1.000:1.000 NULL NULL - no_errors THRAP3 HGNC ENSG00000054118 105 0 0 136 16 10.5263 PGR 0 genome.wustl.edu 37 11 100920727 100920729 + In_Frame_Del DEL CTC CTC - TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 11 100920727 100920729 CTC - DEL PGR ENST00000325455 human ensembl 74_37 -1 known in_frame_del c.2421_2419 p.E807in_frame_del 1.000:1.000:1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core 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 65 0 0 51 12 19.0476 KBTBD6 0 genome.wustl.edu 37 13 41705329 41705329 + Frame_Shift_Del DEL A A - TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 13 41705329 41705329 A - DEL KBTBD6 ENST00000379485 human ensembl 74_37 -1 known frame_shift_del c.1319 p.L440fs 0.994 pfam_Kelch_1,smart_Kelch_1 pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KBTBD6 HGNC ENSG00000165572 143 0 0 150 74 33.0357 USP22 0 genome.wustl.edu 37 17 20921538 20921539 + RNA INS - - AAG TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 17 20921538 20921539 - AAG INS USP22 ENST00000577610 human ensembl 74_37 -1 known rna NULL NULL 0.004:0.005 - - - no_errors USP22 HGNC ENSG00000124422 11 0 0 11 8 42.1053 TP53 0 genome.wustl.edu 37 17 7577558 7577558 + Frame_Shift_Del DEL G G - TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 17 7577558 7577558 G - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.723 p.C242fs 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 75 0 0 73 33 31.1321 NPFFR2 0 genome.wustl.edu 37 4 73013572 73013573 + RNA INS - - T TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 4 73013572 73013573 - T INS NPFFR2 ENST00000506359 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors NPFFR2 HGNC ENSG00000056291 22 0 0 21 6 22.2222 MCHR2 0 genome.wustl.edu 37 6 100382357 100382358 + Frame_Shift_Ins INS - - A TCGA-CG-4440-01A-01D-1158-08 TCGA-CG-4440-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9fa09359-fa06-45ba-8f72-6ebaad4741d5 dabcae8d-c2d2-4c9d-aa90-04012910d357 6 100382357 100382358 - A INS MCHR2 ENST00000281806 human ensembl 74_37 -1 known frame_shift_ins c.624_623 p.L210fs 1.000:1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt - no_errors MCHR2 HGNC ENSG00000152034 73 0 0 73 43 37.069